SE-ATLAS

Dysplasie frontonasale Achondrogenèse Syndrome des côtes courtes-polydactylie type Saldino-Noonan Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle Syndrome coeur-main type 3 Epilepsie-déficience intellectuelle dominante liée à l'X Syndactylie type 5 Syndrome oculo-cérébro-facial type Kaufman Syndrome de Schinzel-Giedion Dysplasie spondylo-épiphysaire et dysplasie spondylo-épimétaphysaire Syndrome d'ankyloblépharon-anomalies ectodermiques-fente labiopalatine Dysplasie spondylo-épimétaphysaire type Isidor-Toutain Syndrome d'ostéosclérose-retard de développement-craniosynostose Maladie HSD10 type infantile Brachydactylie-syndactylie type Zhao Syndrome de retard de développement-ostéopénie-anomalies ectodermiques Syndrome oro-facio-digital type 9 Syndrome d'ataxie spinocérébelleuse-dystrophie cornéenne Syndrome des côtes courtes-polydactylie type Verma-Naumoff Holoprosencéphalie semi-lobaire Dysplasie spondylo-métaphysaire Syndrome de Schwartz-Jampel Syndrome de surdité-onychodystrophie autosomique dominant Syndrome d'ectrodactylie-paraplégie spastique-déficience intellectuelle Fibromatose hyaline juvénile Syndrome de Czeizel-Losonci Hypercalcémie hypocalciurique familiale type 2 Syndrome de Filippi Syndrome de dysplasie spondylo-épiphysaire-brachydactylie-trouble du langage Syndrome de Moynahan Syndrome différence du développement sexuel-déficience intellectuelle Syndrome de microdélétion 9 q31.1q31.3 Ostéodystrophie héréditaire d'Albright Dysplasie thanatophore type 2 Fibromatose multiple non ossifiante Syndrome lié à ATR-X Syndrome d'holoprosencéphalie-polydactylie post-axiale Pied convexe congénital Chondrodysplasie ponctuée dominante liée à l'X Polymicrogyrie unilatérale focale Syndrome de dysostose spondylocostale-atrésie anale-malformation génito-urinaire Syndrome de dimélie fibulaire-diplopodie Syndrome de Ruvalcaba Dysplasie fibreuse monostotique Syndrome oculo-facio-cardio-dentaire Arthrogrypose-hyperkératose létale Hypercalcémie hypocalciurique familiale type 3 Syndrome de Cenani-Lenz Syndrome DOORS Malformation des mains et pieds fendus isolée Syndrome d'Opitz G/BBB autosomique dominant Hypophosphatasie de l'adulte Syndrome de Perniola-Krajewska-Carnevale Syndrome oculo-palato-cérébral Maladie génétique rare Syndrome EEC Syndrome oto-palato-digital Syndrome de microdélétion 14q24.1q24.3 Syndrome d'ostéopétrose-hypogammaglobulinémie Syndrome de pterygium colli-déficience intellectuelle-anomalies des doigts Syndrome oculo-cérébro-rénal de Lowe Syndrome IVIC Syndrome d'anomalie des muscles de la ceinture scapulaire-déficience intellectuelle Syndrome de Dobrow Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome Proximal Xq28 duplication syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Autosomal recessive multiple pterygium syndrome Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome Spondyloepiphyseal dysplasia, Kimberley type Spondyloepiphyseal dysplasia, Reardon type Pyruvate dehydrogenase E3-binding protein deficiency Rare bone disease Spondyloepimetaphyseal dysplasia, PAPSS2 type Acrocephalosyndactyly Syndromic neurometabolic disease with X-linked intellectual disability Absence deformity of leg-cataract syndrome Symbrachydactyly of hand and foot, bilateral Autosomal recessive spondylocostal dysostosis X-linked creatine transporter deficiency SRD5A3-CDG Mohr-Tranebjaerg syndrome Reunion Island Larsen-like syndrome Ulbright-Hodes syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome X-linked intellectual disability due to GRIA3 mutations Hereditary cryohydrocytosis with reduced stomatin Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome Say-Barber-Miller syndrome Congenital radioulnar synostosis MEDNIK syndrome Non-syndromic craniosynostosis Glossopalatine ankylosis Say-Field-Coldwell syndrome Multiple pterygium syndrome Amish infantile epilepsy syndrome Isolated osteopoikilosis Radioulnar synostosis-developmental delay-hypotonia syndrome Chudley-Lowry-Hoar syndrome X-linked intellectual disability, Najm type SCARF syndrome Ciliopathies with major skeletal involvement Baller-Gerold syndrome Lethal occipital encephalocele-skeletal dysplasia syndrome Holmes-Gang syndrome Spondyloepiphyseal dysplasia tarda, Kohn type Upington disease Congenital muscular dystrophy, Fukuyama type Smith-Fineman-Myers syndrome Central polydactyly of toes Hydrocephalus with stenosis of the aqueduct of Sylvius Heart-hand syndrome Hajdu-Cheney syndrome Blepharophimosis-intellectual disability syndrome, Ohdo type Carpenter-Waziri syndrome Banki syndrome Multiple metaphyseal dysplasia COG1-CDG Ulnar-mammary syndrome Spondyloepiphyseal dysplasia, MacDermot type Acropectororenal dysplasia Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Multiple epiphyseal dysplasia and pseudoachondroplasia Brain-lung-thyroid syndrome Dyskeratosis congenita Primary hypertrophic osteoarthropathy Mandibuloacral dysplasia Odontohypophosphatasia Pyknoachondrogenesis Okihiro syndrome VACTERL with hydrocephalus Renier-Gabreels-Jasper syndrome Short stature, Brussels type Leukocyte adhesion deficiency type II Hypocalcemic vitamin D-dependent rickets Mirror polydactyly-vertebral segmentation-limbs defects syndrome Hypocalcemic vitamin D-resistant rickets X-linked complex spastic paraplegia Achondrogenesis type 2 Cole-Carpenter syndrome Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Mandibulofacial dysostosis-microcephaly syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Osteopenia-intellectual disability-sparse hair syndrome Achondrogenesis type 1B Van den Ende-Gupta syndrome Spondylodysplastic dysplasia X-linked complicated spastic paraplegia type 1 Non-syndromic syndactyly Thin ribs-tubular bones-dysmorphism syndrome Spondyloepimetaphyseal dysplasia, Bieganski type Bartsocas-Papas syndrome Marden-Walker syndrome Hyperostosis corticalis generalisata Leukocyte adhesion deficiency type III Pfeiffer-Palm-Teller syndrome Hypochondrogenesis Periventricular nodular heterotopia Freeman-Sheldon syndrome Shprintzen-Goldberg syndrome Schneckenbecken dysplasia X-linked Charcot-Marie-Tooth disease type 1 Acromesomelic dysplasia Van den Bosch syndrome Neonatal severe primary hyperparathyroidism Osteochondritis of tarsal/metatarsal bone Achondrogenesis type 1A Coxopodopatellar syndrome Dysosteosclerosis Odontochondrodysplasia Acromelic dysplasia SHOX-related short stature Myopathy-growth delay-intellectual disability-hypospadias syndrome Brachyolmia, Maroteaux type Congenital pseudoarthrosis of the femur Stickler syndrome Campomelic dysplasia and related disorders Intellectual disability-cataracts-kyphosis syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome X-linked Charcot-Marie-Tooth disease type 2 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome Distal arthrogryposis Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome Acrofrontofacionasal dysostosis Multiple epiphyseal dysplasia due to collagen 9 anomaly Distal Xq28 microduplication syndrome Mesomelic and rhizo-mesomelic dysplasia Congenital cataracts-facial dysmorphism-neuropathy syndrome Trichorhinophalangeal syndrome Autosomal dominant brachyolmia Metaphyseal acroscyphodysplasia X-linked Charcot-Marie-Tooth disease type 4 Brachyolmia type 1, Toledo type Acrofacial dysostosis, Catania type Fryns syndrome Craniodigital-intellectual disability syndrome Multiple epiphyseal dysplasia type 4 Acromicric dysplasia Kenny-Caffey syndrome Radio-renal syndrome Neonatal osteosclerotic dysplasia Congenital vascular bone syndrome Spondyloepimetaphyseal dysplasia, aggrecan type Polymicrogyria with optic nerve hypoplasia Nestor-Guillermo progeria syndrome FGFR2-related bent bone dysplasia Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Sclerosteosis Congenital knee dislocation Dysostosis with brachydactyly Temple syndrome due to paternal 14q32.2 microdeletion Progressive non-infectious anterior vertebral fusion McDonough syndrome Absent radius-anogenital anomalies syndrome Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome Chondrodysplasia punctata McCune-Albright syndrome Primary bone dysplasia with increased bone density Cataract-intellectual disability-anal atresia-urinary defects syndrome TMEM165-CDG Multiple epiphyseal dysplasia type 1 AICA-ribosiduria Isolated complex I deficiency Teebi-Shaltout syndrome Primary bone dysplasia with defective bone mineralization Zechi-Ceide syndrome Microcephalic primordial dwarfism Frontofacionasal dysplasia Isolated oxycephaly Ramon syndrome Cataract-deafness-hypogonadism syndrome Galloway-Mowat syndrome HSD10 disease, neonatal type Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia Hypochondroplasia SLC35A2-CDG Osteogenesis imperfecta Shwachman-Diamond syndrome Dyssegmental dysplasia, Rolland-Desbuquois type Spondylometaphyseal dysplasia, Czarny-Ratajczak type Craniodiaphyseal dysplasia Craniofrontonasal dysplasia Ectrodactyly-polydactyly syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Enlarged parietal foramina Xeroderma pigmentosum-Cockayne syndrome complex Primary bone dysplasia with multiple joint dislocations Primary non-essential cutis verticis gyrata Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Pyruvate dehydrogenase E1-alpha deficiency Cooks syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Blepharophimosis-intellectual disability syndrome Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome Primary bone dysplasia with decreased bone density Primary osteolysis Multiple epiphyseal dysplasia, Beighton type RAPADILINO syndrome 1p21.3 microdeletion syndrome Craniofrontonasal dysplasia-Poland anomaly syndrome Extensor tendons of finger anomalies Oromandibular-limb hypogenesis syndrome Mixed sclerosing bone dystrophy with extra-skeletal manifestations Craniometaphyseal dysplasia OBSOLETE: Peripheral dysostosis Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome Spondylometaphyseal dysplasia, 'corner fracture' type MEND syndrome Autosomal recessive hypophosphatemic rickets Microphthalmia, Lenz type Orofaciodigital syndrome type 1 Cleidocranial dysplasia and isolated cranial ossification defect Lethal congenital contracture syndrome type 2 Cataract-intellectual disability-hypogonadism syndrome Orofaciodigital syndrome type 2 Primary bone dysplasia with disorganized development of skeletal components Microcephaly-brachydactyly-kyphoscoliosis syndrome Autosomal dominant spondylocostal dysostosis Megalocornea-intellectual disability syndrome Isolated cloverleaf skull syndrome Spondylometaphyseal dysplasia, Sedaghatian type MMEP syndrome Dominant hypophosphatemia with nephrolithiasis or osteoporosis Cranio-osteoarthropathy Acrocapitofemoral dysplasia Orofaciodigital syndrome type 4 Dysostosis with predominant vertebral and costal involvement X-linked calvarial hyperostosis Lethal congenital contracture syndrome type 3 Dysostosis with predominant craniofacial involvement Multiple epiphyseal dysplasia, Lowry type Isolated Klippel-Feil syndrome Temple syndrome due to maternal uniparental disomy of chromosome 14 Peters plus syndrome Craniosynostosis, Philadelphia type Melhem-Fahl syndrome Orofaciodigital syndrome type 8 Omphalocele syndrome, Shprintzen-Goldberg type Sagliker syndrome Angelman syndrome due to imprinting defect in 15q11-q13 Brachydactylous dwarfism, Mseleni type Tetraamelia-multiple malformations syndrome Autosomal recessive Stickler syndrome Orofaciodigital syndrome type 12 Patellar dysostosis Pfeiffer syndrome Orofaciodigital syndrome type 10 Alpha-thalassemia-X-linked intellectual disability syndrome Blepharophimosis-radioulnar synostosis syndrome Arthrogryposis syndrome Acrofacial dysostosis, Kennedy-Teebi type Dysostosis of genetic origin with limb anomaly as a major feature Radial hemimelia Syndromic X-linked intellectual disability 7 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type Melnick-Needles syndrome Multicentric osteolysis-nodulosis-arthropathy spectrum Tibial hemimelia Kleefstra syndrome Non-syndromic polydactyly, syndactyly and/or hyperphalangy Biemond syndrome type 2 X-linked intellectual disability, Abidi type Cerebrofaciothoracic dysplasia Melorheostosis Bipartite talus Central polydactyly of toes, bilateral Shoulder and thorax deformity-congenital heart disease syndrome X-linked intellectual disability-epilepsy syndrome Non-syndromic limb reduction defect 17q11 microdeletion syndrome Familial clubfoot due to 17q23.1q23.2 microduplication Orofaciodigital syndrome type 13 Hypertelorism-microtia-facial clefting syndrome Fallot complex-intellectual disability-growth delay syndrome X-linked intellectual disability, Armfield type Pseudoaminopterin syndrome Ulnar hypoplasia-split foot syndrome Syndrome with limb malformations as a major feature Imperforate oropharynx-costovertebral anomalies syndrome Sillence syndrome Autosomal recessive Kenny-Caffey syndrome Gómez-López-Hernández syndrome Microphthalmia-ankyloblepharon-intellectual disability syndrome Caudal appendage-deafness syndrome Sirenomelia Fibular hemimelia Postaxial polydactyly of toes, unilateral Geroderma osteodysplastica Syndrome with synostosis or other joint formation defect Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome Craniosynostosis-fibular aplasia syndrome Multiple pterygium-malignant hyperthermia syndrome Non-syndromic limb malformation KDM5C-related syndromic X-linked intellectual disability Bonnemann-Meinecke-Reich syndrome Delayed membranous cranial ossification Upper limb defect-eye and ear abnormalities syndrome Postaxial polydactyly of toes, bilateral Multiple epiphyseal dysplasia, Al-Gazali type Progressive osseous heteroplasia Autosomal dominant Kenny-Caffey syndrome Christianson syndrome Bilateral parasagittal parieto-occipital polymicrogyria 48,XYYY syndrome Brachyolmia-amelogenesis imperfecta syndrome Eyebrow duplication-syndactyly syndrome Rare surgical thoracic disease Agnathia-holoprosencephaly-situs inversus syndrome Osteocraniostenosis Dysostosis of genetic origin Autosomal dominant omodysplasia Rubinstein-Taybi syndrome due to EP300 haploinsufficiency Frontorhiny RFT1-CDG Leri pleonosteosis Central polydactyly of toes, unilateral Osteochondritis dissecans Tatton-Brown-Rahman syndrome Weaver syndrome Metaphyseal chondrodysplasia, Schmid type Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome Marfan syndrome type 1 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome X-linked intellectual disability, Miles-Carpenter type Osteosclerosis-ichthyosis-premature ovarian failure syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency Lethal chondrodysplasia Okihiro syndrome due to 20q13 microdeletion Cartilage-hair hypoplasia Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia Thalidomide embryopathy Carpotarsal osteochondromatosis MEHMO syndrome X-linked recessive intellectual disability-macrocephaly-ciliary dysfunction syndrome X-linked intellectual disability, Schimke type Roifman syndrome Jackson-Weiss syndrome Mesomelic dwarfism-cleft palate-camptodactyly syndrome Intellectual disability-strabismus syndrome Weill-Marchesani syndrome Bilateral frontal polymicrogyria X-linked mandibulofacial dysostosis Synpolydactyly type 1 Weissenbacher-Zweymuller syndrome Craniosynostosis, Boston type Rhizomelic chondrodysplasia punctata type 1 Langer mesomelic dysplasia Intellectual disability-balding-patella luxation-acromicria syndrome Thiemann disease, familial form Non-syndromic sagittal craniosynostosis Familial osteodysplasia, Anderson type BRESEK syndrome Postaxial polydactyly type A Infantile spasms syndrome Multiple epiphyseal dysplasia, with miniepiphyses Upper limb mesomelic dysplasia Pelviscapular dysplasia X-linked intellectual disability, Shashi type Muscle-eye-brain disease Bowen-Conradi syndrome Epiphyseal stippling-osteoclastic hyperplasia syndrome Mesomelic dwarfism, Reinhardt-Pfeiffer type Genetic syndrome with limb reduction defects Treacher-Collins syndrome Bruck syndrome Spondylocamptodactyly syndrome Familial clubfoot due to 5q31 microdeletion Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Chondroectodermal dysplasia with night blindness Polydactyly of a triphalangeal thumb X-linked intellectual disability, Vitale type Zygodactyly type 3 GMS syndrome Lacrimoauriculodentodigital syndrome Metachondromatosis Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency X-linked intellectual disability, Stocco Dos Santos type Intellectual disability-developmental delay-contractures syndrome Bilateral generalized polymicrogyria Crisponi syndrome Postaxial polydactyly type B Hyperekplexia-epilepsy syndrome FRAXE intellectual disability 20q11.2 microduplication syndrome Angelman syndrome due to maternal 15q11q13 deletion Polysyndactyly X-linked intellectual disability, Wittwer type Wiedemann-Rautenstrauch syndrome Isolated plagiocephaly FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome Polydactyly of a biphalangeal thumb and/or hallux Wildervanck syndrome 2q37 microdeletion syndrome Multicentric carpo-tarsal osteolysis with or without nephropathy Blepharophimosis-intellectual disability syndrome, SBBYS type Okihiro syndrome due to a point mutation Femoral agenesis/hypoplasia, unilateral Rhizomelic chondrodysplasia punctata type 2 Thrombocytopenia-absent radius syndrome Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Poland syndrome Polydactyly of an index finger X-linked intellectual disability, Wilson type Cherubism Cryptorchidism-arachnodactyly-intellectual disability syndrome Fibular aplasia-complex brachydactyly syndrome Microform holoprosencephaly Congenital vertical talus, bilateral SLC35A1-CDG Scalp defects-postaxial polydactyly syndrome Brachydactyly-arterial hypertension syndrome Autosomal recessive distal osteolysis syndrome X-linked epilepsy-learning disabilities-behavior disorders syndrome Rare endocrine disease Brachydactyly-short stature-retinitis pigmentosa syndrome Hoyeraal-Hreidarsson syndrome Angelman syndrome due to paternal uniparental disomy of chromosome 15 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome Cloverleaf skull-asphyxiating thoracic dysplasia syndrome Non-syndromic polydactyly Holoprosencephaly-radial heart renal anomalies syndrome X-linked spinocerebellar ataxia type 4 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 Osteomesopyknosis X-linked intellectual disability, Cabezas type Wilson-Turner syndrome Craniosynostosis-dental anomalies X-linked centronuclear myopathy Brachydactyly-preaxial hallux varus syndrome Torg-Winchester syndrome Kleefstra syndrome due to a point mutation Nicolaides-Baraitser syndrome Simpson-Golabi-Behmel syndrome type 2 Bohring-Opitz syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Prader-Willi syndrome due to translocation Grant syndrome Septopreoptic holoprosencephaly Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Larsen-like osseous dysplasia-short stature syndrome Microcephalic primordial dwarfism, Toriello type 15q13.3 microdeletion syndrome Osteopathia striata-pigmentary dermopathy-white forelock syndrome X-linked intellectual disability-seizures-psoriasis syndrome HSD10 disease, atypical type Carney complex-trismus-pseudocamptodactyly syndrome Lethal Larsen-like syndrome Rare developmental defect during embryogenesis Proximal 16p11.2 microduplication syndrome Lissencephaly Arthrogryposis-like hand anomaly-sensorineural deafness syndrome Exostoses-anetodermia-brachydactyly type E syndrome Polydactyly-myopia syndrome Frontometaphyseal dysplasia Corpus callosum agenesis-abnormal genitalia syndrome Osteopetrosis and related disorders Humeral agenesis/hypoplasia, bilateral ADNP syndrome Rolandic epilepsy-speech dyspraxia syndrome Acromelic frontonasal dysplasia Osteoglosphonic dysplasia Anauxetic dysplasia X-linked spinocerebellar ataxia type 3 Autosomal dominant hypophosphatemic rickets Ulnar hemimelia, bilateral Humero-radial synostosis, unilateral Parastremmatic dwarfism X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome Rare sucking/swallowing disorder Camptodactyly-tall stature-scoliosis-hearing loss syndrome Absent tibia-polydactyly-arachnoid cyst syndrome ANK3-related intellectual disability-sleep disturbance syndrome Parietal foramina with clavicular hypoplasia Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome Grubben-de Cock-Borghgraef syndrome Rhizomelic chondrodysplasia punctata type 3 Orofaciodigital syndrome type 5 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia X-linked hypophosphatemia X-linked intellectual disability, Brooks type Sheldon-Hall syndrome ALG11-CDG Microbrachycephaly-ptosis-cleft lip syndrome Oliver syndrome Spondyloepimetaphyseal dysplasia congenita, Strudwick type Hypomyelination-congenital cataract syndrome Tibial aplasia-ectrodactyly syndrome Goodman syndrome Laryngeal abductor paralysis-intellectual disability syndrome Intellectual disability-alacrima-achalasia syndrome Monoamine oxidase A deficiency X-linked spondyloepimetaphyseal dysplasia Cohen syndrome Platyspondylic dysplasia, Torrance type Prader-Willi syndrome due to imprinting mutation Feingold syndrome type 1 Osteopetrosis with renal tubular acidosis Preaxial polydactyly-colobomata-intellectual disability syndrome Short stature-intellectual disability-eye anomalies-cleft lip/palate syndrome Hutchinson-Gilford progeria syndrome Chondrodysplasia-difference of sex development syndrome Pelizaeus-Merzbacher disease, connatal form Laurence-Moon syndrome X-linked intellectual disability, Gu type Arthrogryposis multiplex congenita-whistling face syndrome Lethal osteosclerotic bone dysplasia Craniofacial conodysplasia Hypoplastic tibiae-postaxial polydactyly syndrome Developmental and speech delay due to SOX5 deficiency Isolated congenital digital clubbing Osteoporosis-pseudoglioma syndrome Early-onset parkinsonism-intellectual disability syndrome Mammary-digital-nail syndrome 3MC syndrome 8q21.11 microdeletion syndrome Blepharophimosis-intellectual disability syndrome, MKB type Mesomelic dysplasia, Savarirayan type Pitt-Hopkins-like syndrome Legg-Calvé-Perthes disease Lateral meningocele syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome Dacryocystitis-osteopoikilosis syndrome Syndactyly-telecanthus-anogenital and renal malformations syndrome Spondyloepimetaphyseal dysplasia, Shohat type Trichorhinophalangeal syndrome type 1 Neonatal Marfan syndrome Familial digital arthropathy-brachydactyly Yunis-Varon syndrome Cornelia de Lange syndrome Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome Mesomelic dysplasia, Kantaputra type Lethal faciocardiomelic dysplasia X-linked intellectual disability, Snyder type Spondyloepimetaphyseal dysplasia, Missouri type Microcephalic osteodysplastic dysplasia, Saul-Wilson type 15q overgrowth syndrome Thanatophoric dysplasia Fibrodysplasia ossificans progressiva Familial chondromalacia patellae Ulna metaphyseal dysplasia syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome CHIME syndrome Radio-ulnar synostosis, bilateral Brachymorphism-onychodysplasia-dysphalangism syndrome Pseudohypoparathyroidism type 1A Hallux varus-preaxial polysyndactyly syndrome Feingold syndrome type 2 Temtamy preaxial brachydactyly syndrome Distal triplication 15q Brachyolmia Thrombocythemia with distal limb defects POMT2-related limb-girdle muscular dystrophy R14 Severe intellectual disability and progressive spastic paraplegia Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Endocrine-cerebro-osteodysplasia syndrome IMAGe syndrome Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome X-linked congenital disorder of glycosylation with intellectual disability as a major feature SPONASTRIME dysplasia Pseudopseudohypoparathyroidism Microcephaly-cervical spine fusion anomalies syndrome Lenz-Majewski hyperostotic dwarfism Intellectual disability-myopathy-short stature-endocrine defect syndrome X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome Pseudoachondroplasia Hip dysplasia, Beukes type Pachydermoperiostosis Astley-Kendall dysplasia Spondyloepimetaphyseal dysplasia with joint laxity Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Spondylo-megaepiphyseal-metaphyseal dysplasia Stüve-Wiedemann syndrome Hypoxanthine-guanine phosphoribosyltransferase deficiency Harrod syndrome 17q21.31 microduplication syndrome Symbrachydactyly of hands and feet Infantile osteopetrosis with neuroaxonal dysplasia FOXP1 Syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 19p13.13 microdeletion syndrome Congenital muscular dystrophy with intellectual disability and severe epilepsy Costello syndrome Weismann-Netter syndrome Radio-ulnar synostosis, unilateral Intermediate osteopetrosis Talo-patello-scaphoid osteolysis Osteonecrosis Bone dysplasia, Azouz type Crossed polysyndactyly X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome Mowat-Wilson syndrome due to monosomy 2q22 Inverse Klippel-Trénaunay syndrome Blomstrand lethal chondrodysplasia Congenital elbow dislocation, bilateral Congenital pseudoarthrosis of the clavicle Autosomal dominant popliteal pterygium syndrome X-linked skeletal dysplasia-intellectual disability syndrome Osteonecrosis of the jaw Limb-mammary syndrome Mosaic monosomy X Microlissencephaly-micromelia syndrome B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome STT3B-CDG Microcephaly-microcornea syndrome, Seemanova type Summitt syndrome X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome Perinatal lethal hypophosphatasia Intellectual disability-short stature-hypertelorism syndrome PMM2-CDG Lipodystrophy-intellectual disability-deafness syndrome Tall stature-long halluces-multiple extra-epiphyses syndrome Zellweger-like syndrome without peroxisomal anomalies Diaphyseal medullary stenosis-bone malignancy syndrome Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome Spondyloepimetaphyseal dysplasia, Handigodu type Severe intellectual disability-progressive spastic diplegia syndrome X-linked intellectual disability with isolated growth hormone deficiency Pelizaeus-Merzbacher disease, classic form Deafness-intellectual disability syndrome, Martin-Probst type W syndrome Familial avascular necrosis of femoral head Frank-Ter Haar syndrome X-linked intellectual disability-psychosis-macroorchidism syndrome X-linked intellectual disability-macrocephaly-macroorchidism syndrome Distal arthrogryposis type 5D Feingold syndrome Severe X-linked intellectual disability, Gustavson type Craniometadiaphyseal dysplasia, wormian bone type Rare syndromic intellectual disability Microcephaly-deafness-intellectual disability syndrome X-linked intellectual disability, Seemanova type Buschke-Ollendorff syndrome Femoral-facial syndrome Hypospadias-intellectual disability, Goldblatt type syndrome STT3A-CDG Tricho-dento-osseous syndrome X-linked intellectual disability, Pai type Non syndromic limb overgrowth Diaphanospondylodysostosis Saldino-Mainzer syndrome Blepharophimosis-intellectual disability syndrome, Verloes type GM3 synthase deficiency Endosteal sclerosis-cerebellar hypoplasia syndrome Rare skin disease 17q11.2 microduplication syndrome X-linked intellectual disability, Stoll type Walker-Warburg syndrome Primary avascular necrosis Disorders of vitamin D metabolism Metaphyseal dysplasia, Braun-Tinschert type X-linked intellectual disability, Shrimpton type Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria Familial hypocalciuric hypercalcemia type 1 Intellectual disability-polydactyly-uncombable hair syndrome MAN1B1-CDG Spondyloenchondrodysplasia Neurofaciodigitorenal syndrome Brachydactyly-long thumb syndrome Diastrophic dysplasia Fountain syndrome Singleton-Merten dysplasia X-linked intellectual disability, Turner type Ptosis-syndactyly-learning difficulties syndrome Premature chromosome condensation with microcephaly and intellectual disability Caffey disease Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome Triphalangeal thumbs-brachyectrodactyly syndrome Craniofaciofrontodigital syndrome Pyruvate dehydrogenase deficiency X-linked intellectual disability-acromegaly-hyperactivity syndrome Humero-ulnar synostosis X-linked progressive cerebellar ataxia Hemimelia Kienbock disease Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Idiopathic juvenile osteoporosis Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Neuroectodermal-endocrine syndrome X-linked intellectual disability-corpus callosum agenesis-spastic quadriparesis syndrome ALG1-CDG Non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature Full schwannomatosis Congenital genu flexum Metaphyseal anadysplasia Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Phosphoribosylpyrophosphate synthetase superactivity Calvarial doughnut lesions-bone fragility syndrome Mucopolysaccharidosis type 2, severe form Syndrome de Williams Syndrome de déficience intellectuelle liée à l'X-hypotonie-dysmorphie faciale-comportement agressif Holoprosencéphalie alobaire Syndrome de déficience intellectuelle liée à l'X-rétinite pigmentaire Dysplasie thanatophore type 1 Syndrome oto-palato-digital type 1 Syndrome de surdité-anomalies génitales-synostoses métacarpiennes et métatarsiennes Spondylo-oculaire syndrome Ostéolyse expansive familiale Nécrose avasculaire traumatique Syndrome de microdélétion 12q14 Dysplasie osseuse primaire avec ossification progressive de la peau, des muscles squelettiques, fascias, tendons et ligaments Macrodactylie des orteils, unilatérale Dysostose cléido-crânienne Syndrome de paraplégie spastique-épilepsie-déficience intellectuelle Syndrome de craniosynostose-calcifications intracrâniennes Syndrome neurodégénératif lié à l'X type Bertini Syndrome de Mazabraud Dysplasie squelettique associée à CHST3 Syndrome de neuropathie hypomyélinisante-arthrogrypose Maladie de Sinding-Larsen-Johansson Maladie de Panner Dysspondyloenchondromatose Syndrome cléido-rhizomélique Déformation de Madelung Maladie d'Osgood-Schlatter Hyperplasie congénitale des surrénales par déficit en cytochrome P450 oxydoréductase Génochondromatose type 1 Variant interhémisphérique médian de l'holoprosencéphalie Syndrome de Hennekam Syndrome de paraplégie spastique-glaucome-déficience intellectuelle Syndrome d'hypoplasie du péroné et du cubitus-brachydactylie Syndrome neurodégénératif lié à l'X type Hamel Syndrome de Mowat-Wilson dû à une mutation ponctuelle de ZEB2 Syndrome de microdélétion 15q24 Syndrome de Lowry-MacLean Syndrome de déficience intellectuelle-obésité-malformations cérébrales-dysmorphie faciale COG8-CDG Brachydactylie type A6 Syndrome ischio-vertébral Syndrome de Fried Malformation veineuse osseuse primaire Syndrome de trigonocéphalie-anomalies des extrémités Syndrome d'arthrogrypose-épilepsie-trouble du spectre de l'autisme Syndrome de craniosynostose-anomalies anales-porokératose Acheirie bilatérale Nécrose avasculaire idiopathique Syndrome de Hernández-Aguirre Negrete Syndrome de Guttmacher Maladie urogénitale rare Syndrome de Keutel Craniosynostose métopique non syndromique Syndrome d'ataxie-apraxie-déficience intellectuelle lié à l'X Maladie systémique ou rhumatologique rare Syndrome d'arthrogrypose-maladie de la corne antérieure Brachydactylie type C Syndrome de Lujan-Fryns Nécrose avasculaire secondaire Dystrophie bulleuse héréditaire type maculaire Rachitisme hypocalcémique Spectre oculo-auriculo-vertébral avec anomalies radiales Paraplégie spastique autosomique récessive type 11 Syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale Syndrome de déficience intellectuelle sévère-épilepsie-anomalies anales-hypoplasie des phalanges Rachitisme hypophosphatémique héréditaire avec hypercalciurie Syndrome de Hunter-McAlpine Syndrome de surdité-onychodystrophie Syndrome génito-patellaire Dysplasie osseuse primaire Brachydactylie type A1 Apodie unilatérale Syndrome de paraplégie-brachydactylie-épiphyses en cône Syndrome de trigonocéphalie-petite taille-retard de croissance Syndrome de déficience intellectuelle-mouvements hyperkinétiques-ataxie tronculaire Syndrome acropectoral Syndrome de Ramos-Arroyo Brachydactylie type E Dysplasie spondylo-épiphysaire congénitale Acro-céphalo-polydactylie Ostéochondrose Syndrome de microcéphalie primaire-déficience intellectuelle modérée-diabète juvénile Monosomie 22q13.3 Syndrome d'atrophie optique-déficience intellectuelle Syndrome acrocardiofacial Maladie de Charcot-Marie-Tooth liée à l'X Adactylie bilatérale du pied Syndrome de microtie-anomalies squelettiques-petite taille Déficit en S-adénosylhomocystéine hydrolase Hétérotopie nodulaire sous-épendymaire Amputation congénitale des membres supérieurs Craniosynostose de Herrmann-Opitz Hétérotopie nodulaire sous-corticale Maladie rare du système circulatoire Maladie de Charcot-Marie-Tooth liée à l'X type 6 Syndrome de Lesch-Nyhan Spectre phénotypique des ostéodysplasies oto-palato-digitales Syndrome de Coffin-Siris Syndrome de retard de développement-microcéphalie-dysmorphie faciale associé à THOC6 Syndrome de Pfeiffer type 1 Syndrome de microcéphalie-corps calleux fin-déficience intellectuelle Chondrodysplasie ponctuée tibio-métacarpienne Brachydactylie type A4 Syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie post-axiale Syndrome de Dyggve-Melchior-Clausen Chondrodysplasie ponctuée avec brachytéléphalangie Syndrome oro-facio-digital Syndrome de microphtalmie-atrophie cérébrale Dysplasie spondylo-métaphysaire type Golden Hétérotopie neuronale nodulaire Dysplasie rhizomélique de Patterson-Lowry Syndrome de leucoencéphalopathie progressive à début précoce-calcification du système nerveux central-surdité-cécité Brachydactylie type A2 Syndrome de Maffucci Syndrome de Pfeiffer type 3 Nécrose avasculaire secondaire non traumatique Hypophosphatasie infantile Syndrome de Pfeiffer type 2 Syndrome de Renpenning Nécrose striatale bilatérale de l'enfant, forme sporadique Syndrome oro-facio-digital type 11 Syndrome de fente palatine-petite taille-anomalies vertébrales Syndrome de Mowat-Wilson Maladie HSD10 Dystrophie musculaire congénitale avec atteinte cérébelleuse Syndrome d'arthrogrypose-insuffisance rénale-cholestase Syndrome de la peau ridée Syndrome de Crouzon-acanthosis nigricans Brachydactylie type A7 Maladie othorinolaryngologique rare Nécrose striatale bilatérale de l'enfant, forme familiale Délétion distale 6p Dysplasie spondylo-métaphysaire axiale Maladie auto-immune multisystémique syndromique par déficit en Itch Sialidose type 2 juvénile Syndrome cérébro-palato-cardiaque d'Hamel Syndrome 48,XXXY Epiphysiolyse de la hanche Monodactylie tétramélique Déficience intellectuelle liée à l'X type Porteous Déficit en guanidinoacétate méthyltransférase Syndrome de symphalangie-anomalies multiples des mains et des pieds Dysostose acrofaciale post-axiale Complexe fémoro-péronéo-cubital Dysplasie oto-spondylo-mégaépiphysaire autosomique dominante Polymicrogyrie Aplasie de la trochlée de l'humérus Syndrome d'hypotonie-trouble sévère du langage-retard cognitif sévère Syndrome d'hirsutisme-dysplasie squelettique-déficience intellectuelle Polymicrogyrie bilatérale DPAGT1-CDG Syndrome de Partington Epilepsie de la femme avec déficience intellectuelle Dysplasie de l'épaule et du pelvis Symphalangie distale Déficience intellectuelle liée à l'X type Golabi-Ito-Hall Syndactylie type 4 Syndrome de Saethre-Chotzen Syndrome de dysplasie du pelvis-pseudoarthrogrypose Atélostéogenèse type III Syndrome cardio-facio-cutané Syndrome de Robinow Syndactylie type 2 Symphalangie proximale Mucopolysaccharidose type 2, forme atténuée Syndrome 3C Amélie Dysostose Syndrome 48,XXYY Anomalie réductionnelle intercalaire des membres Achondroplasie Mains et/ou pieds fendus Anomalie réductionnelle terminale Adactylie de la main Syndrome de Muenke Polydactylie postaxiale des doigts Dysostose acrofaciale Dysostose avec anomalie des membres comme manifestation majeure Brachydactylie Dysostose avec anomalies des membres et de la face comme manifestation majeure Polydactylie préaxiale des doigts Anomalie de formation des articulations Luxation articulaire congénitale Syndrome de Pierre Robin-déficience intellectuelle-brachydactylie Syndrome acrocalleux Déformations congénitales des membres Déformations congénitales des doigts Dysplasie mandibulo-acrale avec lipodystrophie de type A Dysplasie acromésomélique type Maroteaux Dysostose avec anomalies réductionnelles combinées des membres supérieurs et inférieurs Dysplasie mandibulo-acrale avec lipodystrophie de type B Syndrome avec duplication des membres, polydactylie, syndactylie et/ou hyperphalangie Déficit en adénylosuccinate lyase Syndrome avec anomalies réductionnelles des membres Syndrome des contractures congénitales létales Syndrome d'Aicardi Syndrome d'Aicardi-Goutières Amélie des membres supérieurs Ostéopétrose d'Albers-Schönberg Syndrome des ptérygiums poplités Agénésie/hypoplasie de l'humérus Syndrome d'Allan-Herndon-Dudley Absence congénitale du bras et de l'avant-bras avec main conservée Amélie des membres inférieurs Tétra-amélie Absence congénitale de la jambe et du pied Acheirie Absence congénitale de la cuisse et de la jambe avec pied conservé Absence congénitale de l'avant-bras et de la main Syndrome d'Angelman Hypoplasie congénitale du pouce Maladie de Gorham-Stout Apodie Brachydactylie des orteils Main fendue Syndrome d'Apert Polydactylie préaxiale des orteils Syndrome d'anneaux de constriction Syndactylie type 6 Clinodactylie des doigts familiale isolée Polydactylie postaxiale des orteils Pseudoarthrose congénitale de la fibula Camptodactylie des doigts Luxation congénitale de la rotule Syndrome de Borjeson-Forssman-Lehmann Macrodactylie des doigts Déficience intellectuelle liée à l'X type Cilliers Craniosynostose syndromique Absence congénitale unilatérale du bras et de l'avant-bras avec main conservée Absence congénitale bilatérale du bras et de l'avant-bras avec main conservée Hémimélie unilatérale de la fibula Syndrome d'Alazami Syndrome de Cockayne type 3 Cutis laxa autosomique récessive type 2 Dyschondrostéose de Léri-Weill Dysplasie fibreuse des os Polydactylie centrale bilatérale des doigts Syndrome de microduplication 17p13.3 Chondrodysplasie métaphysaire type Jansen Syndrome d'Alport-déficience intellectuelle-hypoplasie du visage-elliptocytose Syndrome d'aphalangie-syndactylie-microcéphalie Arthrogrypose congénitale multiple neurogénique Amyotrophie spinale infantile liée à l'X Arthrogrypose par dystrophie musculaire Arthropathie pseudorhumatoïde progressive infantile Déficit en pyruvate déshydrogénase E1-bêta Absence/hypoplasie congénitale des doigts à l'exception du pouce Brachydactylie des doigts Syndrome d'Antley-Bixler Maladie de Fanconi Pied fendu Polydactylie centrale Hyperphalangie Syndrome de Bannayan-Riley-Ruvalcaba Pseudoarthrose congénitale du tibia Synostose tibio-fibulaire Auriculo-ostéodysplasie Luxation congénitale vraie de l'épaule Arachnodactylie congénitale avec contractures Pseudoarthrose congénitale du radius Déficience intellectuelle liée à l'X type Nascimento Pseudoarthrose congénitale de l'ulna Aplasie/hypoplasie unilatérale de la rotule Syndrome cérébral-cérébelleux-colobome lié l'X Luxation congénitale isolée de la tête radiale Chondrodysplasie dominante liée à l'X type Chassaing-Lacombe Macrodactylie des orteils Aplasie/hypoplasie bilatérale de la rotule Adrénoleucodystrophie liée à l'X, forme cérébrale Syndrome de déficience intellectuelle liée à l'X-syndrome cranio-facio-squelettique Amélie unilatérale des membres supérieurs Déficience intellectuelle liée à l'X type Van Esch Syndrome CHILD Amélie bilatérale des membres supérieurs Dysplasie campomélique Syndrome de déficience intellectuelle liée à l'X-quadriparésie spastique Hypertrophie des membres supérieurs Hypertrophie des membres inférieurs Agénésie/hypoplasie unilatérale de l'humérus Amélie unilatérale des membres inférieurs Syndrome de retard de développement-surdité, type Hildebrand Amélie bilatérale des membres inférieurs Hémimélie unilatérale du radius Hémimélie bilatérale du radius Agénésie/hypoplasie bilatérale du fémur Déficience intellectuelle liée à l'X syndromique Hémimélie unilatérale du tibia Hémimélie bilatérale du tibia Hémimélie unilatérale de l'ulna Hémimélie bilatérale de la fibula Chondrodysplasie ponctuée non rhizomélique Chondrodysplasie ponctuée rhizomélique Absence congénitale unilatérale de l'avant-bras et de la main Absence congénitale bilatérale de l'avant-bras et de la main Absence congénitale unilatérale de la cuisse et de la jambe avec pied conservé Absence congénitale bilatérale de la cuisse et de la jambe avec pied conservé Syndrome d'arthrogrypose-scoliose sévère Acheirie unilatérale Absence congénitale unilatérale de la jambe et du pied Syndrome de Cockayne Absence congénitale bilatérale de la jambe et du pied Nanisme microcéphalique primordial type Dauber Syndrome de Coffin-Lowry Syndrome de Parkes Weber Syndrome de Klippel-Trénaunay Apodie bilatérale Adactylie unilatérale du pied Syndrome des ptérygiums multiples autosomique dominant Syndrome de Crouzon Syndrome de Cockayne type 1 Syndrome de Cockayne type 2 Dystrophie musculaire des ceintures associée à ISPD R20 Syndrome de Carpenter Hyperphalangie unilatérale Hyperphalangie bilatérale Syndrome d'anomalies digitales-déficience intellectuelle-petite taille Symbrachydactylie de la main et du pied, unilatérale Syndrome de Dubowitz Trouble du spectre de l'autisme par déficit en AUTS2 Syndrome de Nager Dysplasie épiphysaire multiple Syndrome de microdélétion 19q13.11 Polydactylie préaxiale des orteils, unilatérale Polydactylie centrale unilatérale des doigts Polydactylie préaxiale bilatérale des orteils Zygodactylie type 2 Zygodactylie type 1 Sympolydactylie type 2 Ostéomalacie oncogénique Sympolydactylie type 3 Zygodactylie type 4 Syndrome d'Ellis-Van Creveld Synostose huméro-radio-ulnaire, unilatérale Syndrome de microduplication Xp11.22p11.23 Synostose huméro-radio-ulnaire, bilatérale Pied convexe congénital unilatéral Maladie d'Ollier Synostose huméro-ulnaire, unilatérale Syndrome de macrocéphalie-retard de développement Synostose huméro-ulnaire, bilatérale Synostose huméro-radiale, bilatérale Syndrome de petite taille-atrésie du canal auditif-hypoplasie mandibulaire-anomalies squelettiques Déformation de Madelung unilatérale Déformation de Madelung bilatérale Genu recurvatum congénital Luxation congénitale du coude, unilatérale Maladie des exostoses multiples Luxation congénitale de la rotule, bilatérale Macrodactylie des doigts, unilatérale Syndrome de Bainbridge-Ropers Luxation congénitale de la rotule, unilatérale Macrodactylie des orteils, bilatérale Macrodactylie des doigts, bilatérale Forme létale du syndrome des ptérygiums multiples Syndrome de Simpson-Golabi-Behmel Syndrome de Goldenhar Syndrome de Gordon Syndrome de microdélétion 3q27.3 Syndrome microgéodique des phalanges Syndrome de céphalopolysyndactylie de Greig Syndrome de Holt-Oram Hypercalcémie hypocalciurique familiale Syndrome de Joubert avec dystrophie thoracique asphyxiante de Jeune Syndrome de dysmorphie craniofaciale-anomalies squelettiques-cardiopathie-trouble neurologique du développement dû à une microdélétion 9q21.3 Hypophosphatasie Rachitisme hypophosphatémique Dysplasie gnatho-diaphysaire Syndrome de Prader-Willi dû à une disomie uniparentale maternelle du chromosome 15 Lissencéphalie liée à l'X avec anomalies génitales Incontinentia pigmenti Syndrome de Jeune Dysplasie de Kniest Syndrome d'alpha-thalassémie-déficience intellectuelle associée au chromosome 16 Syndrome de Prader-Willi dû à une délétion 15q11q13 d'origine paternelle Syndrome trichorhinophalangien type 2 Syndrome de Larsen Syndrome de dysplasie spondylo-métaphysaire-hypotrichose Syndrome de dysplasie spondylo-épimétaphysaire-dentition anormale Dysplasie spondylo-épimétaphysaire type Geneviève Syndrome de Stickler type 1 Syndrome oto-palato-digital type 2 Syndrome de Stickler type 2 Syndrome de Marfan Syndrome de Marshall Syndrome de Meckel Maladie de Menkes Syndrome de Temple Syndrome de Temple lié à une hypométhylation paternelle 14q32.2 Mucopolysaccharidose type 2 Polymicrogyrie bilatérale périsylvienne Atrophie optique précoce liée à l'X Dysplasie spondylo-métaphysaire type A4 Syndrome de dysplasie spondylo-métaphysaire-avant-bras incurvé-dysmorphie faciale Syndrome de déficience intellectuelle sévère-microcéphalie postnatale progressive-stéréotypies manuelles sur la ligne médiane Syndrome de Nance-Horan Neurofibromatose type 1 Schwannomatose liée à NF2 germinale Maladie de Norrie Syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées Syndrome d'Ondine Déficit en ornithine transcarbamylase Ostéopétrose maligne autosomique récessive Syndrome de Pallister-Hall Dysplasie de la tête du fémur type Meyer Maladie de Pelizaeus-Merzbacher Cutis laxa autosomique récessive type 2A Glycogénose par déficit en phosphoglycérate kinase 1 Cutis laxa autosomique récessive type 2 classique Syndrome de Prader-Willi Syndrome de Prader-Willi-like associé à MAGEL2 Pycnodysostose Syndrome d'ulna courte-dysmorphie-hypotonie-déficience intellectuelle Syndrome oculo-auriculo-fronto-nasal Syndrome de Townes-Brocks Syndrome cardiomélique type slovène Syndrome de Turner Syndrome de l'X fragile Monosomie X Acheiropodie Acrodysostose Dysplasie acromésomélique type Hunter-Thompson Syndrome d'Adams-Oliver Syndrome ADULT Syndrome d'hypoglossie-hypodactylie Syndrome d'alopécie-contractures-nanisme-déficience intellectuelle Syndrome de Rubinstein-Taybi dû à des mutations de CREBBP Syndrome de Rubinstein-Taybi dû à une microdélétion 16p13.3 Arthrogrypose multiple congénitale Syndrome d'aniridie-ataxie cérébelleuse-déficience intellectuelle Syndrome d'aniridie-déficience intellectuelle Syndrome d'ankylose des pouces-brachydactylie-déficience intellectuelle Scaphocéphalie familiale type McGillivray Maladie de Charcot-Marie-Tooth liée à l'X type 5 Cutis laxa autosomique récessive type 2B Syndrome d'incurvation latérale sévère du tibia-petite taille-omoplate ailée modérée-dysmorphie faciale modérée Aplasie/hypoplasie de la rotule Syndrome de Smith-Lemli-Opitz Encéphalopathie épileptique à début précoce et déficience intellectuelle liées à une mutation de GRIN2A Microphtalmie avec défauts linéaires cutanés Syndrome de Mononen-Karnes-Senac Syndrome de Myhre Syndrome nail-patella Nanisme microcéphalique primordial type Montréal Dysplasie métatropique Nanisme microcéphalique ostéodysplasique primordial types I et III Syndrome de déficience intellectuelle liée à l'X-hypoplasie cérébelleuse Syndrome d'Okamoto Syndrome d'insuffisance pancréatique-anémie-hyperostose Syndrome d'Opitz GBBB Syndrome oro-facio-digital type 3 Polymicrogyrie unilatérale hémisphérique Maladie de Nasu-Hakola Maladie de Charcot-Marie-Tooth liée à l'X type 3 Syndrome d'ostéoporose-hypopigmentation oculocutanée Hyperostose endostéale type Worth Anomalie chromosomique rare Syndrome de Furhmann Syndrome de petite taille-pterygium colli-cardiopathie congénitale Syndrome cardio-crânien type Pfeiffer Phocomélie type Schinzel Syndrome de déficience intellectuelle liée à l'X-plagiocéphalie Syndrome d'agénésie du corps calleux-déficience intellectuelle-colobome-micrognathie Syndrome de polyneuropathie-déficience intellectuelle-acromicrie-ménopause prématurée Syndrome de pouce triphalangé-polysyndactylie Syndrome d'Ehlers-Danlos musculocontractural Pseudoprogéria Maladie de Pyle Syndrome de déficience intellectuelle-cataracte-calcification du pavillon auriculaire-myopathie Syndrome de déficience intellectuelle-microcéphalie-anomalies phalangiennes et faciales Déficience intellectuelle type Buenos-Aires Déficience intellectuelle type Wolff Syndrome d'ataxie cérébelleuse autosomique récessive-épilepsie-déficience intellectuelle par déficit de TUD Atypical Rett syndrome Richieri Costa-da Silva syndrome Autosomal dominant Robinow syndrome Scheuermann's disease Short rib-polydactyly syndrome, Majewski type Polyostotic fibrous dysplasia CTCF-related neurodevelopmental disorder X-linked spasticity-intellectual disability-epilepsy syndrome Rare genetic bone development disorder Brachyolmia type 1, Hobaek type Multiple epiphyseal dysplasia type 5 Spondylometaphyseal dysplasia, Kozlowski type Autosomal recessive omodysplasia Multiple synostoses syndrome Pseudodiastrophic dysplasia Syndactyly-polydactyly-ear lobe syndrome Rett syndrome Goldberg-Shprintzen megacolon syndrome Atkin-Flaitz syndrome Metaphyseal chondrodysplasia, Kaitila type Ulna hypoplasia-intellectual disability syndrome Thumb deformity-alopecia-pigmentation anomaly syndrome Hereditary breast cancer Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Solitary median maxillary central incisor syndrome XYLT1-CDG Salt-and-pepper syndrome ANE syndrome Johanson-Blizzard syndrome Johnson neuroectodermal syndrome Kabuki syndrome Sanjad-Sakati syndrome Familial clubfoot due to PITX1 point mutation Non-syndromic bicoronal craniosynostosis KBG syndrome Keratosis follicularis-dwarfism-cerebral atrophy syndrome Marfan syndrome type 2 Lethal Kniest-like dysplasia Patterson-Stevenson-Fontaine syndrome MASA syndrome FATCO syndrome Microcephaly-cardiomyopathy syndrome Rubinstein-Taybi syndrome POMT1-related limb-girdle muscular dystrophy R11 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome Tuberous sclerosis complex CEDNIK syndrome Atelosteogenesis type I Familial scaphocephaly syndrome Blepharonasofacial malformation syndrome Boomerang dysplasia Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Aymé-Gripp syndrome Brachydactyly-elbow wrist dysplasia syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Eiken syndrome Brachytelephalangy-dysmorphism-Kallmann syndrome C syndrome Campomelia, Cumming type Camptobrachydactyly Camurati-Engelmann disease COG5-CDG Dappled diaphyseal dysplasia Cheirospondyloenchondromatosis Spondyloepiphyseal dysplasia, Maroteaux type Heart-hand syndrome type 2 COG4-CDG Congenital heart defect-round face-developmental delay syndrome Intellectual disability-facial dysmorphism-hand anomalies syndrome Cataract-hypertrichosis-intellectual disability syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Cataract-nephropathy-encephalopathy syndrome Catel-Manzke syndrome Cortical blindness-intellectual disability-polydactyly syndrome Cerebrocostomandibular syndrome Hydrocephaly-cerebellar agenesis syndrome Familial osteochondritis dissecans Charlie M syndrome Hypoxanthine guanine phosphoribosyltransferase partial deficiency Hair defect-photosensitivity-intellectual disability syndrome Tarsal-carpal coalition syndrome Lethal chondrodysplasia, Moerman type Pyruvate dehydrogenase E2 deficiency Lethal chondrodysplasia, Seller type Pyruvate dehydrogenase phosphatase deficiency Lethal recessive chondrodysplasia Desbuquois syndrome Greenberg dysplasia Otospondylomegaepiphyseal dysplasia Ring chromosome 10 syndrome COFS syndrome Uveal coloboma-cleft lip and palate-intellectual disability Contractures-ectodermal dysplasia-cleft lip/palate syndrome Lethal congenital contracture syndrome type 1 ALG3-CDG X-linked complicated corpus callosum dysgenesis MPDU1-CDG ALG8-CDG Hyperphosphatasia-intellectual disability syndrome ALG2-CDG MGAT2-CDG Short rib-polydactyly syndrome Autosomal recessive Robinow syndrome Coxoauricular syndrome Crane-Heise syndrome Cranioectodermal dysplasia Cantú syndrome SPECC1L-related hypertelorism syndrome Larsen-like syndrome, B3GAT3 type Chondrodysplasia punctata, Sheffield type Chondrodysplasia punctata, Toriello type CK syndrome Craniomicromelic syndrome Craniotelencephalic dysplasia Craniosynostosis-cataract syndrome Craniosynostosis Craniosynostosis-dysmorphism-brachydactyly syndrome Microcephalic primordial dwarfism due to ZNF335 deficiency Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Currarino syndrome Xp22.13p22.2 duplication syndrome Curry-Jones syndrome Polymicrogyria due to TUBB2B mutation Dandy-Walker malformation-postaxial polydactyly syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Blepharophimosis-intellectual disability syndrome due to UBE3B deficiency Infantile bilateral striatal necrosis Distal deletion 3p Pseudohypoparathyroidism type 1C X-linked lethal multiple pterygium syndrome Split hand-split foot-deafness syndrome Brachydactyly type B2 Distal arthrogryposis type 10 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome Craniolenticulosutural dysplasia Wolcott-Rallison syndrome Pelizaeus-Merzbacher disease in female carriers Pelizaeus-Merzbacher disease, transitional form Distal duplication 15q Null syndrome Dyschondrosteosis-nephritis syndrome Temtamy syndrome Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 Angioosteohypotrophic syndrome Acrofacial dysostosis, Palagonia type Acrofacial dysostosis, Rodríguez type Glycerol kinase deficiency, infantile form Oculomaxillofacial dysostosis Dysostosis, Stanescu type Spastic paraplegia-Paget disease of bone syndrome Kyphomelic dysplasia Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 Ghosal hematodiaphyseal dysplasia Thoracomelic dysplasia Glycogen storage disease due to LAMP-2 deficiency Dysplasia epiphysealis hemimelica Lowry-Wood syndrome Schimke immuno-osseous dysplasia Bone dysplasia, lethal Holmgren type Avascular necrosis Syndromic neurometabolic disease with non-X-linked intellectual disability Spondyloperipheral dysplasia-short ulna syndrome Skeletal dysplasia-epilepsy-short stature syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Sialidosis type 2 Dyssegmental dysplasia, Silverman-Handmaker type Prenatal benign hypophosphatasia Melorheostosis with osteopoikilosis EEM syndrome Childhood-onset hypophosphatasia Angelman syndrome due to a point mutation Emery-Nelson syndrome Kleefstra syndrome due to 9q34 microdeletion Epilepsy-microcephaly-skeletal dysplasia syndrome Gollop-Wolfgang complex Femoral agenesis/hypoplasia Pai syndrome Angel-shaped phalango-epiphyseal dysplasia Fibrochondrogenesis Floating-Harbor syndrome 49,XXXXY syndrome Chondrodysplasia with joint dislocations, gPAPP type Splenogonadal fusion-limb defects-micrognathia syndrome GAPO syndrome Prominent glabella-microcephaly-hypogenitalism syndrome Focal dermal hypoplasia Acromesomelic dysplasia, Grebe type Hall-Riggs syndrome Hallermann-Streiff syndrome Multiple congenital anomalies-hypotonia-seizures syndrome Acrodysostosis with multiple hormone resistance Rare gynecologic or obstetric disease Lissencephaly type 1 due to doublecortin gene mutation Mesoaxial synostotic syndactyly with phalangeal reduction Holoprosencephaly Congenital pseudoarthrosis of the limbs Holoprosencephaly-craniosynostosis syndrome Infantile systemic hyalinosis Ankylosing vertebral hyperostosis with tylosis Seckel syndrome Smith-Magenis syndrome X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome Aarskog-Scott syndrome Acrocraniofacial dysostosis Acrofacial dysostosis, Weyers type Acropectorovertebral dysplasia Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Autosomal recessive amelia Amniotic bands Isolated anencephaly/exencephaly Rare neoplastic disease Aniridia-ptosis-intellectual disability-familial obesity syndrome Cerebrooculonasal syndrome Roberts syndrome Frontonasal dysplasia-alopecia-genital anomalies syndrome Cloverleaf skull-multiple congenital anomalies syndrome Short rib-polydactyly syndrome, Beemer-Langer type Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis Spondyloepimetaphyseal dysplasia, matrilin-3 type L1 syndrome Turner syndrome due to structural X chromosome anomalies Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome Fibular aplasia-ectrodactyly syndrome Radial deficiency-tibial hypoplasia syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome Distal arthrogryposis type 1 Kuskokwim syndrome Lethal ataxia with deafness and optic atrophy Terminal osseous dysplasia-pigmentary defects syndrome 3M syndrome Geleophysic dysplasia Mesomelic dysplasia, Nievergelt type Microcephalic osteodysplastic primordial dwarfism type II Micromelic dwarfism, Fryns type Unilateral polymicrogyria Familial clubfoot with or without associated lower limb anomalies Oculodentodigital dysplasia Postaxial tetramelic oligodactyly Omodysplasia Lethal omphalocele-cleft palate syndrome Opsismodysplasia Orofaciodigital syndrome type 6 Bilateral frontoparietal polymicrogyria Blount disease Osteopathia striata-cranial sclerosis syndrome Autosomal dominant osteopetrosis type 1 Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome Pachygyria-intellectual disability-epilepsy syndrome Juvenile Paget disease Paraplegia-intellectual disability-hyperkeratosis syndrome Congenital limb malformation Pitt-Hopkins syndrome Polymicrogyria-turricephaly-hypogenitalism syndrome Adducted thumbs-arthrogryposis syndrome, Christian type Acrodysplasia scoliosis Qazi-Markouizos syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Atelosteogenesis type II Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency Rhizomelic syndrome, Urbach type GMPPB-related limb-girdle muscular dystrophy R19 Spondyloepiphyseal dysplasia tarda Spondylometaphyseal dysplasia, Schmidt type Ulnar hemimelia Spondyloepimetaphyseal dysplasia, Irapa type Severe achondroplasia-developmental delay-acanthosis nigricans syndrome Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type Humero-radial synostosis Humero-radio-ulnar synostosis Familial lambdoid synostosis Radioulnar synostosis-microcephaly-scoliosis syndrome Brachydactyly type B Spondylocarpotarsal synostosis Brachydactyly type A5 Nodulosis-arthropathy-osteolysis syndrome Ballard syndrome Genochondromatosis type 2 Congenital sialidosis type 2 Syndactyly type 1 Syndactyly type 3 Thoracolaryngopelvic dysplasia Slender bone dysplasia X-linked intellectual disability, Cantagrel type X-linked intellectual disability-cubitus valgus-dysmorphism syndrome X-linked intellectual disability, Siderius type Trismus-pseudocamptodactyly syndrome X-linked intellectual disability-precocious puberty-obesity syndrome X-linked intellectual disability, Stevenson type Urban-Rogers-Meyer syndrome X-linked intellectual disability, Zorick type Woodhouse-Sakati syndrome Zimmermann-Laband syndrome X-linked Opitz G/BBB syndrome X-linked intellectual disability-hypotonic face syndrome Ossification anomalies-psychomotor developmental delay syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Lobar holoprosencephaly Rare infertility X-linked intellectual disability, Sutherland-Haan type X-linked intellectual disability, Hedera type Juberg-Marsidi syndrome Medial condensing osteitis of the clavicle Primary bone dysplasia with micromelia X-linked osteoporosis with fractures Smith-McCort dysplasia Hypotrichosis-intellectual disability, Lopes type Intellectual disability, Birk-Barel type Dysmorphism-short stature-deafness-difference of sex development syndrome Congenital bowing of long bones-short stature-dolichomacrocephaly-ocular hypertelorism syndrome Kapur-Toriello syndrome Karsch-Neugebauer syndrome Congenital muscular dystrophy with intellectual disability Desmosterolosis Angioosteohypertrophic syndrome Laurin-Sandrow syndrome Pyruvate dehydrogenase E3 deficiency Macrocephaly-spastic paraplegia-dysmorphism syndrome Hand-foot-genital syndrome Transverse limb deficiency-hemangioma syndrome Mesomelia-synostoses syndrome Syndactyly type 8 Metaphyseal chondrodysplasia, Spahr type Spondyloepiphyseal dysplasia with metatarsal shortening