SE-ATLAS

Dysplasie, fronto-nasale Achondrogenesie Kurzrippen-Polydaktylie-Syndrom Typ Saldino-Noonan Dysplasie, spondyloepiphysäre, Typ Nishimura Herz-Hand-Syndrom Typ 3 X-chromosomal-dominante Intelligenzminderung-Epilepsie-Syndrom Syndaktylie Typ 5 Okulo-zerebro-faziales Syndrom, Typ Kaufman Schinzel-Giedion-Syndrom Spondyloepiphysäre und spondyloepimetaphysäre Dysplasie Ankyloblepharon-ektodermale Defekte-Lippen-Kiefer-Gaumenspalte-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Isidor-Toutain Osteosklerose-Entwicklungsverzögerung-Kraniosynostose-Syndrom HSD10-Krankheit, infantiler Typ Brachydaktylie-Syndaktylie Typ Zhao Allgemeine Entwicklungsverzögerung-Osteopenie-ektodermaler Defekt-Syndrom Oro-fazio-digitales Syndrom Typ 9 Spastische Ataxie - Hornhautdystrophie Kurzrippen-Polydaktylie-Syndrom Typ Verma-Naumoff Holoprosenzephalie, semilobäre Dysplasie, spondylometaphysäre Schwartz-Jampel-Syndrom Schwerhörigkeit-Onychodystrophie-Syndrom, autosomal-dominantes Intelligenzminderung-spastische Paraplegie-Ektrodaktylie-Syndrom Fibromatose, hyaline juvenile Czeizel-Losonci-Syndrom Hyperkalzämie, familiäre hypokalziurische, Typ 2 Filippi-Syndrom Spondyloepiphysäre Dysplasie-Brachydaktylie-Sprachstörung-Syndrom Moynahan-Syndrom Störung der Geschlechtsentwicklung-Intelligenzminderung-Syndrom Mikrodeletionssyndrom 9q31.1q31.3 Albright-Osteodystrophie, hereditäre Thanatophore Dysplasie Typ 2 Fibromatose, multiple nicht ossifizierende ATR-X-abhängiges Syndrom Holoprosenzephalie - postaxiale Polydaktylie Vertikaler Talus, kongenitaler Chondrodysplasia punctata, X-chromosomal-dominante Polymikrogyrie, fokale unilaterale pondylokostale Dysostose-Analatresie-Urogenitalfehlbildung-Syndrom Fibuläre Dimelie-Diplopodie-Syndrom Ruvalcaba-Syndrom Monostotische fibröse Dysplasie Okulo-fazio-kardio-dentales Syndrom Arthrogrypose - Hyperkeratose, letaler Typ Hyperkalzämie, familiäre hypokalziurische, Typ 3 Cenani-Lenz-Syndaktylie DOORS-Syndrom Isolierte Spalthand-Spaltfuß-Fehlbildung Opitz BBB/G-Syndrom, autosomal-dominantes Hypophosphatasie des Erwachsenen Alopezie-Intelligenzminderung-Syndrom Okulo-palato-zerebrales Syndrom Krankheit, genetisch bedingte EEC-Syndrom Oto-palato-digitales Syndrom Mikrodeletionssyndrom 14q24.1q24.3 Osteopetrose-Hypogammaglobulinämie-Syndrom Pterygium colli - Intelligenzminderung - Fingeranomalien Okulo-zerebro-renales Syndrom Lowe IVIC-Syndrom Schultergürtelsyndrom mit Intelligenzminderung, familiärer Typ Dobrow-Syndrom Kraniosynostose - Hydrozephalus - Chiari-Fehlbildung I - radioulnare Synostose Xq28-Duplikationssyndrom, proximales Intelligenzminderung-grobe Gesichtsszüge-Makrozephalie-zerebelläre Hypoplasie-Syndrom Multiples Pterygium-Syndrom, autosomal-rezessives Syndaktylie - Kamptodaktylie und Klinodaktylie des fünften Fingers - bifide Zehen Dysplasie, spondyloepiphysäre, Typ Kimberley Dysplasie, spondyloepiphysäre, Typ Reardon Pyruvat-Dehydrogenase-E3-bindendes Protein-Mangel Knochenkrankheit, seltene Dysplasie, spondyloepimetaphysäre, Typ PAPSS2 Akrozephalosyndaktylie Syndromale neurometabolische Krankheit mit X-chromosomaler Intelligenzminderung Syndrom der Beinverlust-Deformität mit Katarakt Symbrachydakytlie der Hände und Füße, bilateral Dysostose, spondylokostale, autosomal-rezessive Kreatin-Transporter-Mangel, X-chromosomaler SRD5A3-CDG Mohr-Tranebjaerg-Syndrom Reunion Insel-Variante des Larsen-Syndroms Ulbright-Hodes-Syndrom Schwere Intelligenzminderung-Kleinwuchs-Verhaltensstörungen-Gesichtsdysmorphie-Syndrom Intelligenzminderung, X-chromosomale, durch GRIA3-Mutationen Kryohydrozytose mit reduziertem Stomatin, hereditäre Form Ektodermale Dysplasie-Pili-Torti-Syndaktylie-Syndrom Say-Barber-Miller-Syndrom Radio-ulnare Synostose, kongenitale MEDNIK-Syndrom Kraniosynostose, nicht-syndromale Ankylose, glossopalatine Say-Field-Coldwell-Syndrom Multiples Pterygium-Syndrom Epilepsie-Syndrom, infantiles, Amish-Typ Osteopoikilose, isolierte Radioulnare Synostose-Entwicklungsretardierung-Hypotonie-Syndrom Chudley-Lowry-Hoar-Syndrom Intelligenzminderung, X-chromosomale, Typ Najm SCARF-Syndrom Ziliopathie mit vorwiegend skelettaler Beteiligung Baller-Gerold-Syndrom Letal okzipitale Enzephalozele-Skelettdysplasie-Syndrom Holmes-Gang-Syndrom Dysplasie, spondyloepiphysäre, verzögerte, Typ Kohn Upington-Krankheit Muskeldystrophie, kongenitale, Typ Fukuyama Smith-Fineman-Myers-Syndrom Zentrale Polydaktylie der Zehen Hydrozephalus mit Stenose des Aquaeductus Sylvii Herz-Hand-Syndrom Hajdu-Cheney-Syndrom Blepharophimose-Intelligenzminderung-Syndrom Typ Ohdo Carpenter-Waziri-Syndrom Banki-Syndrom Dysplasie, metaphysäre COG1-CDG Ulna-Mamma-Syndrom Dysplasie, spondyloepiphysäre, Typ MacDermot Akro-pektoro-renale Dysplasie Entwicklungsverzögerung-Gesichtsdysmorphien-Syndrom durch MED13L-Mangel Dysplasie, epiphysäre multiple, mit Pseudoachondroplasie Hirn-Lunge-Schilddrüsen-Syndrom Dyskeratosis congenita Osteoarthropathie, hypertrophe primäre Dysplasie, mandibulo-akrale Odontohypophosphatasie Pyknoachondrogenesie Okihiro-Syndrom VACTERL-Assoziation mit Hydrozephalus Renier-Gabreels-Jasper-Syndrom Kleinwuchs Typ Brüssel Leukozytenadhäsionsdefekt Typ II Rachitis, hypokalzämische, Vitamin D-abhängige Polydaktylie, spiegelbildliche - vertebrale Segmentierungsdefekte - Extremitätenanomalien Rachitis, hypokalzämische, Vitamin D-resistente Hereditäre spastische Paraplegie, X-chromosomale, komplexe Achondrogenesie Typ 2 Cole-Carpenter-Syndrom Leukoenzephalopathie mit Hirnstamm- und Rückenmarkbeteiligung - Laktaterhöhung Mandibulo-faziale Dysostose-Mikrozephalie-Syndrom Gesichtsdysmorphie-Schalskrotum-Gelenkschlaffheit-Syndrom Osteopenie-Intelligenzminderung-spährliches Haar-Syndrom Achondrogenesie Typ 1B Van den Ende-Gupta-Syndrom Dysplasie, spondylodysplastische Spastische Paraplegie, komplizierte, X-chromosomale, Typ 1 Syndaktylie, nicht-syndromale Dünne Rippen und Röhrenknochen-Dysmorphie-Syndrom Dysplasie, spondyloepimetaphysäre, Typ Bieganski Bartsocas-Papas-Syndrom Marden-Walker-Syndrom Hyperostosis corticalis generalisata Leukozytenadhäsionsdefekt Typ III Pfeiffer-Palm-Teller-Syndrom Hypochondrogenesie Heterotopie, noduläre periventrikuläre Freeman-Sheldon-Syndrom Shprintzen-Goldberg-Syndrom Schneckenbecken-Dysplasie Charcot-Marie-Tooth-Krankheit, X-chromosomale, Typ 1 Dysplasie, akromesomele Van den Bosch-Syndrom Hyperparathyroidismus, neonataler primärer schwerer Osteochondritis der Tarsal-/Metatarsalknochen Achondrogenesie Typ 1A Small-Patella-Syndrom Dysosteosklerose Goldblatt-Syndrom Dysplasie, akromele Kleinwuchs, Shox-bedingter Myopathie-Wachstumsverzögerung-Intelligenzminderung-Hypospadie Brachyolmie Typ 2 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 Dysplasie, spondyloepimetaphysäre, Typ Handigodu Schwere Intelligenzminderung-progressive spastische Diplegie-Syndrom X-chromosomale Intelligenzminderung mit isoliertem Wachstumshormonmangel Pelizaeus-Merzbacher-Krankheit, klassische Form Schwerhörigkeit-Intelligenzminderung-Syndrom Typ Martin-Probst W-Syndrom Avaskuläre Nekrose des Femurkopfes, familiäre Form Frank-ter Haar-Syndrom X-chromosomale Intelligenzminderung-Psychose-Makroorchidie-Syndrom X-chromosomale Intelligenzminderung-Makrozephalie-Makroorchidie-Syndrom Arthrogrypose, distale, Typ 5D Feingold-Syndrom Schwere X-chromosomale Intelligenzminderung Typ Gustavson Dysplasie, kraniometadiaphysäre, Schaltknochen-Typ Seltene syndromale Intelligenzminderung Mikrozephalie - Schwerhörigkeit - Intelligenzminderung Intelligenzminderung, X-chromosomale, Typ Seemanova Buschke-Ollendorff-Syndrom Femoral-faziales Syndrom Hypospadie - Intelligenzminderung, Typ Goldblatt STT3A-CDG Tricho-dento-ossäres Syndrom Intelligenzminderung, X-chromosomale, Typ Pai Nicht-syndromale Extremitätenhypertrophie Diaphano-spondylo-Dysostose Saldino-Mainzer-Syndrom Blepharophimose- Intelligenzminderung-Syndrom, Typ Verloes GM3-Synthase-Mangel Endosteale Sklerose-zerebelläre Hypoplasie-Syndrom Hautkrankheit, seltene Mikroduplikationssyndrom 17q11.2 Intelligenzminderung, X-chromosomale, Typ Stoll Walker-Warburg-Syndrom Avaskuläre Nekrose, primäre Störung des Vitamin D-Stoffwechels Dysplasie, metaphysäre, Typ Braun-Tinschert Intelligenzminderung, X-chromosomale, Typ Shrimpton Metaphysäre Chondromatose mit D-2-Hydroxy-Glutarazidurie Hyperkalzämie, familiäre hypokalziurische, Typ 1 Intelligenzminderung-Polydaktylie-unkämmbare Haare-Syndrom MAN1B1-CDG Spondyloenchondrodysplasie Neuro-fazio-digito-renales Syndrom Brachydaktylie mit langem Daumen Dysplasie, diastrophe Fountain-Syndrom Singleton-Merten-Dysplasie Intelligenzminderung, X-chromosomale, Typ Turner Ptosis - Syndaktylie - Lernschwierigkeiten Vorzeitige Chromosomenkondensation mit Mikrozephalie und mentaler Retardierung Caffey-Krankheit Hyperphalangie der Finger-Zehenanomalie-schweres Pectus excavatum-Syndrom Triphalangeale Daumen - Brachyektrodaktylie Kranio-fazio-fronto-digitales Syndrom Pyruvat-Dehydrogenase-Mangel X-chromosomale Intelligenzminderung-Akromegalie-Hyperaktivität-Syndrom Synostose, humero-ulnare Ataxie, zerebelläre, X-chromosomale, Typ 1 Hemimelie Kienböck-Krankheit Neurofibromatose Typ 1 durch NF1-Genmutation oder intragenische Deletion Osteoporose, idiopathische juvenile Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom Neuroektodermales endokrines Syndrom X-chromosomale Intelligenzminderung-Corpus callosum-Agenesie-spastische Tetraparese-Syndrom ALG1-CDG Kongenitale Glykosylierungs-Krankheit mit Intelligenzminderung als Hauptmerkmal (nicht X-chromosomal) Schwannomatose Genu flexum, kongenital Anadysplasie, metaphysäre Intelligenzminderung-Krämpfe-Hypophosphatasie-ophthalmologische und skelettale Anomalien-Syndrom Phosphoribosylpyrophosphat-Synthetase-Überaktivität Doughnut-förmige Läsionen der Schädelkalotte - Knochenfragilität Mukopolysaccharidose Typ 2, schwere Form Williams-Syndrom X-chromosomale Intelligenzminderung-Hypotonie-Gesichtsdysmorphien-aggressives Verhalten-Syndrom Holoprosenzephalie, alobäre X-chromosomale Intelligenzminderung-Retinitis pigmentosa-Syndrom Thanatophore Dysplasie Typ 1 Oto-palato-digitales Syndrom Typ 1 Schwerhörigkeit - Genitalanomalien - Synostose der Mittelhand- und der Mittelfussknochen Spondylo-okuläres Syndrom Osteolyse, expansile familiäre Avaskuläre Nekrose, traumatische Mikrodeletionssyndrom 12q14 Primäre Knochendysplasie mit progressiver Ossifikation von Haut, Skelettmuskeln, Faszien, Sehnen und Ligamenten Makrodaktylie der Zehen, unilateral Dysostose, kleidokraniale Spastische Paraplegie-Epilepsie-Intelligenzminderung-Syndrom Kraniosynostose-intrakranielle Kalzifizierung-Syndrom Neurodegeneratives Syndrom, X-chromosomales, Typ Bertini Mazabraud-Syndrom CHST3-assoziierte Skelettdysplasie Hypomyelinisierung-Neuropathie-Arthrogrypose-Syndrom Sinding-Larsen-Johansson-Syndrom Panner-Krankheit Dysspondyloenchondromatose Cleido-rhizomeles Syndrom Madelung-Deformität Osgood-Schlatter-Krankheit Nebennierenhyperplasie, kongenitale, durch Cytochrom-P450-Oxydoreduktase-Mangel Genochondromatose Typ 1 Mittlere interhemisphärische Fusionsvariante der Holoprosenzephalie Hennekam-Syndrom Spastische Paraplegie - Glaukom - Intelligenzminderung Ulna-Fibula-Strahldefekt-Brachydaktylie-Syndrom Neurodegeneratives Syndrom, X-chromosomales, Typ Hamel Mowat-Wilson-Syndrom durch Punktmutationen im ZEB2-Gen Mikrodeletionssyndrom 15q24 Lowry-Maclean-Syndrom Intelligenzminderung-Adipositas-Hirnfehlbildungen-Gesichtsdysmorphie-Syndrom COG8-CDG Brachydaktylie A6 Ischio-vertebrales Syndrom Fried-Syndrom Venöse Fehlbildung, intraossäre primäre Trigonozephalie - breite Daumen Autismus-Spektrum-Störung-Epilepsie-Arthrogrypose-Syndrom Kraniosynostose-anale Anomalien-Porokeratose-Syndrom Acheirie, bilaterale Avaskuläre Nekrose, idiopathische Hernández-Aguirre-Negrete-Syndrom Guttmacher-Syndrom Urogenitale Krankheit, seltene Keutel-Syndrom Kraniosynostose, metopische, nicht-syndromale X-chromosomale Intelligenzminderung-Ataxie-Apraxie-Syndrom Seltene systemische oder rheumatologische Krankheit Arthrogrypose-anteriore Hornzellkrankheit-Syndrom Brachydaktylie Typ C Lujan-Fryns-Syndrom Avaskuläre Nekrose, sekundäre Dystrophie, bullöse, hereditäre, makulärer Typ Rachitis, hypokalzämische Okulo-aurikulo-vertebrales Spektrum mit radialen Defekten Spastische Paraplegie, autosomal-rezessive, Typ 11 X-chromosomale Intelligenzminderung-Dysmorphie-zerebrale Atrophie-Syndrom Schwere Intelligenzminderung-Epilepsie-Analanomalien-Hypoplastische distale Phalangen Rachitis, hypophosphatämische, mit Hyperkalziurie Hunter-McAlpine -Syndrom Schwerhörigkeit-Onychodystrophie-Syndrom Genito-patellares Syndrom Primary bone dysplasia Brachydactyly type A1 Apodia, unilateral Paraplegia-brachydactyly-cone-shaped epiphysis syndrome Trigonocephaly-short stature-developmental delay syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Acropectoral syndrome Ramos-Arroyo syndrome Brachydactyly type E Spondyloepiphyseal dysplasia congenita Acrocephalopolydactyly Osteochondrosis Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Monosomy 22q13.3 Optic atrophy-intellectual disability syndrome Acrocardiofacial syndrome X-linked Charcot-Marie-Tooth disease Adactyly of foot, bilateral Ear-patella-short stature syndrome S-adenosylhomocysteine hydrolase deficiency Subependymal nodular heterotopia Terminal transverse defects of arm Craniosynostosis, Herrmann-Opitz type Sub-cortical nodular heterotopia Rare circulatory system disease X-linked Charcot-Marie-Tooth disease type 6 Lesch-Nyhan syndrome Otopalatodigital syndrome spectrum disorder Coffin-Siris syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Pfeiffer syndrome type 1 Microcephaly-thin corpus callosum-intellectual disability syndrome Chondrodysplasia punctata, tibial-metacarpal type Brachydactyly type A4 Brain malformation-congenital heart disease-postaxial polydactyly syndrome Dyggve-Melchior-Clausen disease Brachytelephalangic chondrodysplasia punctata Orofaciodigital syndrome Microphthalmia-brain atrophy syndrome Spondylometaphyseal dysplasia, Golden type Nodular neuronal heterotopia Rhizomelic dysplasia, Patterson-Lowry type Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Brachydactyly type A2 Maffucci syndrome Pfeiffer syndrome type 3 Secondary non-traumatic avascular necrosis Infantile hypophosphatasia Pfeiffer syndrome type 2 Renpenning syndrome Sporadic infantile bilateral striatal necrosis Orofaciodigital syndrome type 11 Cleft palate-short stature-vertebral anomalies syndrome Mowat-Wilson syndrome HSD10 disease Congenital muscular dystrophy with cerebellar involvement Arthrogryposis-renal dysfunction-cholestasis syndrome Wrinkly skin syndrome Crouzon syndrome-acanthosis nigricans syndrome Brachydactyly type A7 Rare otorhinolaryngologic disease Familial infantile bilateral striatal necrosis Distal deletion 6p Axial spondylometaphyseal dysplasia Syndromic multisystem autoimmune disease due to Itch deficiency Juvenile sialidosis type 2 Hamel cerebro-palato-cardiac syndrome 48,XXXY syndrome Epiphysiolysis of the hip Tetramelic monodactyly X-linked intellectual disability, Porteous type Guanidinoacetate methyltransferase deficiency Symphalangism with multiple anomalies of hands and feet Postaxial acrofacial dysostosis Femur-fibula-ulna complex Autosomal dominant otospondylomegaepiphyseal dysplasia Polymicrogyria Humerus trochlea aplasia Hypotonia-speech impairment-severe cognitive delay syndrome Hirsutism-skeletal dysplasia-intellectual disability syndrome Bilateral polymicrogyria DPAGT1-CDG Partington syndrome Female restricted epilepsy with intellectual disability Pelvis-shoulder dysplasia Distal symphalangism X-linked intellectual disability, Golabi-Ito-Hall type Syndactyly type 4 Saethre-Chotzen syndrome Pelvic dysplasia-arthrogryposis of lower limbs syndrome Atelosteogenesis type III Cardiofaciocutaneous syndrome Robinow syndrome Syndactyly type 2 Proximal symphalangism Mucopolysaccharidosis type 2, attenuated form 3C syndrome Amelia Dysostosis 48,XXYY syndrome Intercalary limb defects Achondroplasia Split hand or/and split foot malformation Terminal limb defects Adactyly of hand Muenke syndrome Postaxial polydactyly of fingers Acrofacial dysostosis Dysostosis with limb anomaly as a major feature Brachydactyly Dysostosis with limb and face anomalies as a major feature Preaxial polydactyly of fingers Joint formation defects Congenital joint dislocations Intellectual disability-brachydactyly-Pierre Robin syndrome Acrocallosal syndrome Congenital deformities of limbs Congenital deformities of fingers Mandibuloacral dysplasia with type A lipodystrophy Acromesomelic dysplasia, Maroteaux type Dysostosis with combined reduction defects of upper and lower limbs Mandibuloacral dysplasia with type B lipodystrophy Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy Adenylosuccinate lyase deficiency Syndrome with limb reduction defects Lethal congenital contracture syndrome Aicardi syndrome Aicardi-Goutières syndrome Amelia of upper limb Albers-Schönberg osteopetrosis Popliteal pterygium syndrome Humeral agenesis/hypoplasia Allan-Herndon-Dudley syndrome Congenital absence of upper arm and forearm with hand present Amelia of lower limb Tetra-amelia Congenital absence of both lower leg and foot Acheiria Congenital absence of thigh and lower leg with foot present Congenital absence of both forearm and hand Angelman syndrome Congenital hypoplasia of thumb Gorham-Stout disease Apodia Brachydactyly of toes Split hand Apert syndrome Preaxial polydactyly of toes Constriction rings syndrome Syndactyly type 6 Familial isolated clinodactyly of fingers Postaxial polydactyly of toes Congenital pseudoarthrosis of the fibula Camptodactyly of fingers Congenital patella dislocation Borjeson-Forssman-Lehmann syndrome Macrodactyly of fingers X-linked intellectual disability, Cilliers type Syndromic craniosynostosis Congenital absence of upper arm and forearm with hand present, unilateral Congenital absence of upper arm and forearm with hand present, bilateral Fibular hemimelia, unilateral Alazami syndrome Cockayne syndrome type 3 Autosomal recessive cutis laxa type 2 Léri-Weill dyschondrosteosis Fibrous dysplasia of bone Central polydactyly of fingers, bilateral 17p13.3 microduplication syndrome Metaphyseal chondrodysplasia, Jansen type Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome Aphalangy-syndactyly-microcephaly syndrome Neurogenic arthrogryposis multiplex congenita Infantile-onset X-linked spinal muscular atrophy Arthrogryposis due to muscular dystrophy Progressive pseudorheumatoid arthropathy of childhood Pyruvate dehydrogenase E1-beta deficiency Congenital absence/hypoplasia of fingers excluding thumb Brachydactyly of fingers Antley-Bixler syndrome Fanconi anemia Split foot Central polydactyly Hyperphalangy Bannayan-Riley-Ruvalcaba syndrome Congenital pseudoarthrosis of the tibia Tibio-fibular synostosis Auriculoosteodysplasia True congenital shoulder dislocation Congenital contractural arachnodactyly Congenital pseudoarthrosis of the radius X-linked intellectual disability, Nascimento type Congenital pseudoarthrosis of the ulna Patella aplasia/hypoplasia, unilateral X-linked cerebral-cerebellar-coloboma syndrome Isolated congenital radial head dislocation X-linked dominant chondrodysplasia, Chassaing-Lacombe type Macrodactyly of toes Patella aplasia/hypoplasia, bilateral X-linked cerebral adrenoleukodystrophy X-linked intellectual disability-craniofacioskeletal syndrome Amelia of upper limb, unilateral X-linked intellectual disability, Van Esch type CHILD syndrome Amelia of upper limb, bilateral Campomelic dysplasia X-linked intellectual disability-spastic quadriparesis syndrome Upper limb hypertrophy Lower limb hypertrophy Humeral agenesis/hypoplasia, unilateral Amelia of lower limb, unilateral Developmental delay-deafness syndrome, Hildebrand type Amelia of lower limb, bilateral Radial hemimelia, unilateral Radial hemimelia, bilateral Femoral agenesis/hypoplasia, bilateral X-linked syndromic intellectual disability Tibial hemimelia, unilateral Tibial hemimelia, bilateral Ulnar hemimelia, unilateral Fibular hemimelia, bilateral Non-rhizomelic chondrodysplasia punctata Rhizomelic chondrodysplasia punctata Congenital absence of both forearm and hand, unilateral Congenital absence of both forearm and hand, bilateral Congenital absence of thigh and lower leg with foot present, unilateral Congenital absence of thigh and lower leg with foot present, bilateral Arthrogryposis-severe scoliosis syndrome Acheiria, unilateral Congenital absence of both lower leg and foot, unilateral Cockayne syndrome Congenital absence of both lower leg and foot, bilateral Microcephalic primordial dwarfism, Dauber type Coffin-Lowry syndrome Parkes Weber syndrome Klippel-Trénaunay syndrome Apodia, bilateral Adactyly of foot, unilateral Autosomal dominant multiple pterygium syndrome Crouzon syndrome Cockayne syndrome type 1 Cockayne syndrome type 2 ISPD-related limb-girdle muscular dystrophy R20 Carpenter syndrome Hyperphalangy, unilateral Hyperphalangy, bilateral Digital anomalies-intellectual disability-short stature syndrome Symbrachydactyly of hand and foot, unilateral Dubowitz syndrome Autism spectrum disorder due to AUTS2 deficiency Nager syndrome Multiple epiphyseal dysplasia 19q13.11 microdeletion syndrome Preaxial polydactyly of toes, unilateral Central polydactyly of fingers, unilateral Preaxial polydactyly of toes, bilateral Zygodactyly type 2 Zygodactyly type 1 Synpolydactyly type 2 Oncogenic osteomalacia Synpolydactyly type 3 Zygodactyly type 4 Ellis Van Creveld syndrome Humero-radio-ulnar synostosis, unilateral Microduplication Xp11.22p11.23 syndrome Humero-radio-ulnar synostosis, bilateral Congenital vertical talus, unilateral Ollier disease Humero-ulnar synostosis, unilateral Macrocephaly-developmental delay syndrome Humero-ulnar synostosis, bilateral Humero-radial synostosis, bilateral Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome Madelung deformity, unilateral Madelung deformity, bilateral Congenital genu recurvatum Congenital elbow dislocation, unilateral Multiple osteochondromas Congenital patella dislocation, bilateral Macrodactyly of fingers, unilateral Bainbridge-Ropers syndrome Congenital patella dislocation, unilateral Macrodactyly of toes, bilateral Macrodactyly of fingers, bilateral Lethal multiple pterygium syndrome Simpson-Golabi-Behmel syndrome Goldenhar syndrome Gordon syndrome 3q27.3 microdeletion syndrome Phalangeal microgeodic syndrome Greig cephalopolysyndactyly syndrome Holt-Oram syndrome Familial hypocalciuric hypercalcemia Joubert syndrome with Jeune asphyxiating thoracic dystrophy Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion Hypophosphatasia Hypophosphatemic rickets Gnathodiaphyseal dysplasia Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 X-linked lissencephaly with abnormal genitalia Incontinentia pigmenti Jeune syndrome Kniest dysplasia Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Prader-Willi syndrome due to paternal 15q11q13 deletion Trichorhinophalangeal syndrome type 2 Larsen syndrome Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome Spondyloepimetaphyseal dysplasia, Geneviève type Stickler syndrome type 1 Otopalatodigital syndrome type 2 Stickler syndrome type 2 Marfan syndrome Marshall syndrome Meckel syndrome Menkes disease Temple syndrome Temple syndrome due to paternal 14q32.2 hypomethylation Mucopolysaccharidosis type 2 Bilateral perisylvian polymicrogyria Early-onset X-linked optic atrophy Spondylometaphyseal dysplasia, A4 type Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome Nance-Horan syndrome Neurofibromatosis type 1 Full NF2-related schwannomatosis Norrie disease Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Congenital central hypoventilation syndrome Ornithine transcarbamylase deficiency Autosomal recessive malignant osteopetrosis Pallister-Hall syndrome Dysplasia of head of femur, Meyer type Pelizaeus-Merzbacher disease Autosomal recessive cutis laxa type 2A Glycogen storage disease due to phosphoglycerate kinase 1 deficiency Autosomal recessive cutis laxa type 2, classic type Prader-Willi syndrome MAGEL2-related Prader-Willi-like syndrome Pycnodysostosis Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Oculoauriculofrontonasal syndrome Townes-Brocks syndrome Heart-hand syndrome, Slovenian type Turner syndrome Fragile X syndrome Monosomy X Acheiropodia Acrodysostosis Acromesomelic dysplasia, Hunter-Thompson type Adams-Oliver syndrome ADULT syndrome Hypoglossia-hypodactyly syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome Rubinstein-Taybi syndrome due to CREBBP mutations Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Arthrogryposis multiplex congenita Aniridia-cerebellar ataxia-intellectual disability syndrome Aniridia-intellectual disability syndrome Thumb stiffness-brachydactyly-intellectual disability syndrome Familial scaphocephaly syndrome, McGillivray type X-linked Charcot-Marie-Tooth disease type 5 Autosomal recessive cutis laxa type 2B Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome Patella aplasia/hypoplasia Smith-Lemli-Opitz syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Microphthalmia with linear skin defects syndrome Mononen-Karnes-Senac syndrome Myhre syndrome Nail-patella syndrome Microcephalic primordial dwarfism, Montreal type Metatropic dysplasia Microcephalic osteodysplastic primordial dwarfism types I and III X-linked intellectual disability-cerebellar hypoplasia syndrome Okamoto syndrome Pancreatic insufficiency-anemia-hyperostosis syndrome Opitz GBBB syndrome Orofaciodigital syndrome type 3 Unilateral hemispheric polymicrogyria Nasu-Hakola disease X-linked Charcot-Marie-Tooth disease type 3 Osteoporosis-oculocutaneous hypopigmentation syndrome Endosteal hyperostosis, Worth type Rare chromosomal anomaly Fuhrmann syndrome Short stature-webbed neck-heart disease syndrome Cardiocranial syndrome, Pfeiffer type Phocomelia, Schinzel type X-linked intellectual disability-plagiocephaly syndrome Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Triphalangeal thumb-polysyndactyly syndrome Musculocontractural Ehlers-Danlos syndrome Pseudoprogeria syndrome Pyle disease Intellectual disability-cataracts-calcified pinnae-myopathy syndrome Intellectual disability-microcephaly-phalangeal-facial abnormalities syndrome Intellectual disability, Buenos-Aires type Intellectual disability, Wolff type Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 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 Brachydaktylie - Ellenbogen-/Handgelenk-Dysplasie Brachydaktylie, mesomele, mit mentaler Retardierung und Herzfehlern Eiken-Syndrom Brachytelephalangie mit Dysmorphien und Kallmann-Syndrom C-Syndrom Kampomelie Typ Cumming Kamptobrachydaktylie Camurati-Engelmann-Syndrom COG5-CDG Dysplasie, diaphysäre gefleckte Cheiro-spondylo-enchondromatose Dysplasie, spondyloepiphysäre, Typ Maroteaux Herz-Hand-Syndrom Typ 2 COG4-CDG Kongenitaler Herzfehler-rundes Gesicht-Entwicklungsverzögerung-Syndrom Intelligenzminderung-Gesichtsdysmorphien-Handanomalien-Syndrom Katarakt-Hypertrichose-Intelligenzminderung-Syndrom Ataxie-Intelligenzminderung-okulomotorische Apraxie-zerebelläre Zysten-Syndrom Katarakt-Nephropathie-Enzephalopathie-Syndrom Catel-Manzke-Syndrom Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom Zerebro-kosto-mandibuläres Syndrom Hydrozephalus-Kleinhirn-Agenesie-Syndrom Osteochondrosis dissecans, familiäre Charlie M-Syndrom Kelley-Seegmiller-Syndrom Haaranomalien - Photosensibilität - Intelligenzminderung Tarsal-Karpal-Fusions-Syndrom Chondrodysplasie, letale, Typ Moerman Pyruvat-Dehydrogenase E2-Mangel Chondrodysplasie, letale, Typ Seller Pyruvat-Dehydrogenase-Phosphatase-Mangel Chondrodysplasie, letale, rezessive Desbuquois-Syndrom Greenberg-Dysplasie Dysplasie, oto-spondylo-megaepiphysäre Ringchromosom-10-Syndrom COFS-Syndrom Uvea-Kolobom mit Lippen-Kiefer-Gaumenspalte und Intelligenzminderung Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-Syndrom Syndrom der kongenitalen letalen Kontrakturen Typ 1 ALG3-CDG Corpus callosum-Dysgenesie, komplizierte, X-chromosomale MPDU1-CDG ALG8-CDG Hyperphosphatasie-Intelligenzminderung-Syndrom ALG2-CDG MGAT2-CDG Kurzrippen-Polydaktylie-Syndrome Robinow-Syndrom, autosomal-rezessives Coxo-aurikuläres Syndrom Crane-Heise-Syndrom Dysplasie, kranioektodermale Hypertrichose mit Osteochondrodysplasie vom Typ Cantú SPECC1L-assoziiertes Hypertelorismus-Syndrom Larsen-ähnliches Syndrom, B3GAT3 Typ Chondrodysplasia punctata Typ Sheffield Chondrodysplasia punctata Typ Toriello CK-Syndrom Kranio-mikromeles Syndrom Dysplasie, kraniotelenzephale Kraniosynostose-Katarakt-Syndrom Kraniosynostose Kraniosynostose - Dysmorphien - Brachydaktylie Kleinwuchs, mikrozephaler primordialer, duch ZNF335-Mangel Intelligenzminderung-kraniofaziale Dysmorphien-Kryptorchismus-Syndrom Currarino-Syndrom Xp22.13p22.2-Duplikationssyndrom Curry-Jones-Syndrom Polymikrogyrie durch TUBB2B-Genmutation Dandy-Walker-Malformation-postaxiale Polydaktylie-Syndrom Spondylokostale Dysostose-Hypospadie-Intelligenzminderung-Syndrom Blepharophimose-Intelligenzminderung-Syndrom durch UBE3B-Mangel Striatale Nekrose, infantile Distale Deletion 3p Pseudohypoparathyreoidismus Typ 1C Multiples Pterygium-Syndrom, letales, X-chromosomales Spalthand - Spaltfuß - Schwerhörigkeit Brachydaktylie Typ B2 Arthrogrypose, distale, Typ 10 Radioulnar-Synostose - amegakaryozytische Thrombozytopenie Dysplasie, kranio-lentikulo-suturale Wolcott-Rallison-Syndrom Pelizaeus-Merzbacher-Krankheit, weibliche Überträgerinnen Pelizaeus-Merzbacher-Krankheit, transitionale Form Distale Duplikation 15q Null-Syndrom Dyschondrosteose - Nephritis Temtamy-Syndrom Prader-Willi-Syndrom durch paternale Deletion von 15q11.13, Typ 2 Angio-osteo-hypotrophisches Syndrom Dysostose, akrofaziale, Palagonien-Typ Dysostose, akrofaziale, Typ Rodriguez Glycerol-Kinase-Mangel, infantiler Dysostose, okulo-maxillo-faziale Dysostose Typ Stanescu Spastische Paraplegie mit Paget-Syndrom Dysplasie, kyphomele Alpha-Dystroglycan-assoziierte Gliedergürtelmuskeldystrophie R16 Dysplasie, hämatodiaphysäre, Typ Ghosal Dysplasie, thorakomelische Glykogenose durch LAMP-2-Mangel Dysplasia epiphysealis hemimelica Lowry-Wood-Syndrom Knochendysplasie, immuno-ossäre, Typ Schimke Knochendysplasie, letale, Typ Holmgren Avaskuläre Nekrose Syndromale neurometabolische Krankheit mit nicht X-chromosomaler Intelligenzminderung Spondyloperiphere Dysplasie mit kurzer Ulna Skelettdysplasie - Epilepsie - Kleinwuchs Intelligenzminderung - motorische Dysfunktion - multiple Gelenkkontrakturen, rezessiv Sialidose Typ 2 Dysplasie, dyssegmentale, Typ Silverman-Handmaker Hypophosphatasie, benigne pränatale Melorheostose mit Osteopoikilosis EEM-Syndrom Hypophosphatasie mit Beginn im Kindesalter Angelman-Syndrom durch Punktmutation Emery-Nelson-Syndrom Kleefstra-Syndrom durch Mikrodeletion 9q34 Epilepsie-Mikrozephalie-Skelettdysplasie-Syndrom Gollop-Wolfgang-Komplex Femuragenesie/-hypoplasie Pai-Syndrom Dysplasie, engelförmige phalango-epiphysäre Fibrochondrogenesie Floating-Harbor-Syndrom 49,XXXXY-Syndrom Chondrodysplasie mit Gelenkkontrakturen, gPAPP-Typ Splenogonadale Fusion-Extremitätenfehlbildung-Mikrognathie-Syndrom GAPO-Syndrom Prominente Glabella - Mikrozephalie - Hypogenitalismus Hypoplasie, fokale dermale Dysplasie, akromesomele, Typ Grebe Hall-Riggs-Syndrom Hallermann-Streiff-Syndrom Multiple kongenitale Anomalien-Hypotonie-Krampfanfälle-Syndrom Akrodysostose mit multipler Hormonresistenz Gynäkologie oder Geburtshilfe, seltene Krankheiten der Lissenzephalie Typ 1 mit Doublecortin(DCX)-Genmutation Mesoaxiale synostotische Syndaktylie mit phalangealer Reduktion Holoprosenzephalie Pseudoarthrose der Gliedmaßen, kongenitale Holoprosenzephalie-Kraniosynostose-Syndrom Hyalinose, infantile systemische Hyperostose, ankylosierende vertebrale mit Tylosis Seckel-Syndrom Smith-Magenis-Syndrom X-chromosomale Intelligenzminderung-Kardiomegalie-kongestive Herzinsuffizienz-Syndrom Aarskog-Scott-Syndrom Dysostose, akro-kranio-faziale Dysostose, akrofaziale, Typ Weyers Dysplasie, akro-pectoro-vertebrale Alopezie-Epilepsie-Pyorrhoe-Intelligenzminderung-Syndrom Osteopenie-Myopie-Hörverlust-Intelligenzminderung-Gesichtsdysmorphien-Syndrom Amelie, autosomal-rezessive Amnionruptur-Sequenz Anenzephalie/Exenzephalie, isolierte Seltene neoplastische Krankheit Aniridie-Ptosis-Intelligenzminderung-familiäre Adipositas-Syndrom Zerebro-okulo-nasales Syndrom Roberts-Syndrom Fronto-nasale Dysplasie mit Alopezie und Genitalanomalien Kleeblattschädel - multiple kongenitale Anomalien Kurzrippen-Polydaktylie-Syndrom Typ Beemer-Langer Milde spondyloepiphysäre Dysplasie durch COL2A1-Genmutation mit früh beginnender Osteoarthritis Spondyloepimetaphysäre Dysplasie, MATN3-Gen-assoziierte L1-Syndrom Turner-Syndrom durch strukturelle Anomalien des X-Chromosoms Aphalangie-Hemivertebrae-urogenital-intestinale Dysgenesie-Syndrom Fibula-Aplasie-Ektrodaktylie-Syndrom Radiusaplasie-Tibiahypoplasie-Syndrom Arachnodaktylie-Ossifikationsstörungen-Intelligenzminderung-Syndrom Arthrogrypose, distale, Typ 1 Kuskokwim-Syndrom Letale Ataxie mit Schwerhörigkeit und Optikusatrophie Terminale Knochendysplasie - Pigmentstörungen 3M-Syndrom Kleinwuchs, geleophysischer Dysplasie, mesomele, Typ Nievergelt Kleinwuchs, mikrozephaler osteodysplastischer primordialer, Typ II Kleinwuchs, mikromeler, Typ Fryns Polymikrogyrie, unilaterale Klumpfuß, familiärer, mit oder ohne untere Extremitätenanomalie Dysplasie, okulo-dento-digitale Oligodaktylie, tetramelische postaxiale Omodysplasie Omphalozele-Gaumenspalte-Syndrom, letales Opsismodysplasie Oro-fazio-digitales Syndrom Typ 6 Polymikrogyrie, bilaterale frontoparietale Blount-Syndrom Osteopathia striata - kraniale Sklerose Osteopetrose, autosomal-dominante, Typ 1 Osteoporose - Makrozephalie - Blindheit - Gelenkinstabilität Pachygyrie-Intelligenzminderung-Epilepsie-Syndrom Paget-Syndrom, juveniles Paraplegie-Intelligenzminderung-Hyperkeratose-Syndrom Extremitätenfehlbildung, kongenitale Pitt-Hopkins-Syndrom Polymikrogyrie-Turrizephalus-Hypogenitalismus-Syndrom Adduzierte Daumen-Arthrogrypose-Syndrom Typ Christian Akrodysplasie - Skoliose Qazi-Markouizos-Syndrom Intelligenzminderung-Dysmorphien-Hypogonadismus-Diabetes mellitus-Syndrom Atelosteogenesis Typ II Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom durch RUBCN-Mangel Rhizomeles Syndrom Typ Urbach GMPPB-assoziierte Gliedergürtelmuskeldystrophie R19 Dysplasie, spondyloepiphysäre verzögerte Dysplasie, spondylometaphysäre, Typ Schmidt Hemimelie, ulnare Dysplasie, spondyloepimetaphysäre, Typ Irapa Schwere Achondroplasie-Entwicklungsverzögerung-Acanthosis nigricans-Syndrom Spondylometaphysäre Dysplasie mit Zapfen-Stäbchendystrophie Spondyloepimetaphysäre Dysplasie mit kurzen Extremitäten und anormaler Kalzifizierung Dysplasie, spondyloepimetaphysäre, mit multiplen Luxationen, leptodaktyler Typ Synostose, humero-radiale Synostose, humero-radio-ulnare Familiäre lambdoide Synostose Radioulnare Synostose-Mikrozephalie-Skoliose-Syndrom Brachydaktylie Typ B Spondylo-karpo-tarsale Synostose Brachydaktylie Typ A5 Nodulose-Arthropathie-Osteolyse-Syndrom Ballard-Syndrom Genochondromatose Typ 2 Sialidose Typ 2, kongenitale Form Syndaktylie Typ 1 Syndaktylie Typ 3 Dysostose, thorakopelvine Dysplasie, dünner Knochen Intelligenzminderung, X-chromosomale, Typ Cantagrel X-chromosomale Intelligenzminderung-Cubitus valgus-Dysmorphie-Syndrom Intelligenzminderung, X-chromosomale, Typ Siderius Trismus - Pseudokamptodaktylie X-chromosomale Intelligenzminderung-vorzeitige Pubertät-Adipositas-Syndrom Intelligenzminderung, X-chromosomale, Typ Stevenson Urban-Rogers-Meyer-Syndrom Intelligenzminderung, X-chromosomale, Typ Zorick Woodhouse-Sakati-Syndrom Zimmerman-Laband-Syndrom Opitz BBB/G-Syndrom, X-chromosomales X-chromosomale Intelligenzminderung-Syndrom-hypotones Gesicht-Syndrom Ossifikationsstörung - psychomotorische Entwicklungsverzögerung Viszerale Neuropathie-Gehirnanomalien-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom Microzephalie - Polymikrogyrie - Corpus callosum-Agenesie Holoprosenzephalie, lobäre Infertilität, seltene Intelligenzminderung, X-chromosomale, Typ Sutherland-Haan Intelligenzminderung, X-chromosomale, Typ Hedera Juberg-Marsidi-Syndrom Kondensierende Ostitis der medialen Klavikula Primäre Knochendysplasie mit Mikromelie Osteoporose mit Knochenbrüchen, X-chromosomal Smith-McCort-Dysplasie Hypotrichose mit Intelligenzminderung Typ Lopes Birk-Barel-Syndrom Dysmorphien-Kleinwuchs-Schwerhörigkeit-Störung der Geschlechtsentwicklung-Syndrom Kongenitale Verkrümmung der Röhrenknochen-Kleinwuchs-Dolichomakrozephalie-okulärer Hypertelorismus-Syndrom Kapur-Toriello-Syndrom Karsch-Neugebauer-Syndrom Kongenitale Muskeldystrophie mit Intelligenzminderung Desmosterolose Angio-osteo-hypertrophisches Syndrom Laurin-Sandrow-Syndrom Pyruvat-Dehydrogenase E3-Mangel Makrozephalie-spastische Paraplegie-Dysmorphien-Syndrom Hand-Fuß-Genital-Syndrom Transversale Extremitätenfehlbildungen-Hämangiom-Syndrom Mesomelie-Synostosen-Syndrom Syndaktylie Typ 8 Chondrodysplasie, metaphysäre, Typ Spahr Dysplasie, spondyloepiphysäre, mit metatarsaler Verkürzung