SE-ATLAS

Dysmorphism-short stature-deafness-difference of sex development syndrome S-adenosylhomocysteine hydrolase deficiency Coffin-Siris syndrome Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome COFS syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Nodular neuronal heterotopia Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Solitary median maxillary central incisor syndrome Mowat-Wilson syndrome 3-phosphoserine phosphatase deficiency, infantile/juvenile form Short ulna-dysmorphism-hypotonia-intellectual disability syndrome Polymicrogyria due to TUBB2B mutation PYCR2-related microcephaly-progressive leukoencephalopathy 9q31.1q31.3 microdeletion syndrome 3q27.3 microdeletion syndrome Intellectual disability-epilepsy-extrapyramidal syndrome Aniridia-renal agenesis-psychomotor retardation syndrome Bannayan-Riley-Ruvalcaba syndrome Aniridia-cerebellar ataxia-intellectual disability syndrome Macrocephaly-spastic paraplegia-dysmorphism syndrome X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome Hirsutism-skeletal dysplasia-intellectual disability syndrome Cardiofaciocutaneous syndrome Aniridia-ptosis-intellectual disability-familial obesity syndrome Semilobar holoprosencephaly Aniridia-intellectual disability syndrome Holoprosencephaly 2q23.1 microduplication syndrome Hyperphosphatasia-intellectual disability syndrome Global developmental delay-osteopenia-ectodermal defect syndrome Filippi syndrome Autosomal recessive spastic paraplegia type 9B Moynahan syndrome Czeizel-Losonci syndrome Holoprosencephaly-postaxial polydactyly syndrome Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Alopecia-intellectual disability syndrome Intellectual disability-facial dysmorphism-hand anomalies syndrome Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Ossification anomalies-psychomotor developmental delay syndrome Oculo-palato-cerebral syndrome Pterygium colli-intellectual disability-digital anomalies syndrome Shoulder and girdle defects-familial intellectual disability syndrome X-linked syndromic intellectual disability Syndromic neurometabolic disease with non-X-linked intellectual disability Microcephaly-glomerulonephritis-marfanoid habitus syndrome Congenital heart defect-round face-developmental delay syndrome 3-methylglutaconic aciduria type 7 PGM3-CDG Spondyloepiphyseal dysplasia tarda, Kohn type Ulbright-Hodes syndrome Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome Say-Barber-Miller syndrome Johanson-Blizzard syndrome 16p12.1p12.3 triplication syndrome Blepharophimosis-intellectual disability syndrome MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Floating-Harbor syndrome 3p25.3 microdeletion syndrome Hereditary cryohydrocytosis with reduced stomatin Urban-Rogers-Meyer syndrome Short stature-webbed neck-heart disease syndrome Spondylocostal dysostosis-hypospadias-intellectual disability syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 13q12.3 microdeletion syndrome Kabuki syndrome Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Sanjad-Sakati syndrome Congenital non-communicating hydrocephalus Osteopenia-intellectual disability-sparse hair syndrome 3C syndrome Wolf-Hirschhorn syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Polymicrogyria with optic nerve hypoplasia Kagami-Ogata syndrome Kapur-Toriello syndrome Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome ANE syndrome Cataract-hypertrichosis-intellectual disability syndrome Crane-Heise syndrome KBG syndrome 5p13 microduplication syndrome Fryns syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Temple syndrome due to paternal 14q32.2 microdeletion Achondroplasia Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Cataract-nephropathy-encephalopathy syndrome Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Cataract-intellectual disability-anal atresia-urinary defects syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Galloway-Mowat syndrome Combined oxidative phosphorylation defect type 7 Septo-optic dysplasia spectrum AICA-ribosiduria Zechi-Ceide syndrome Primary non-essential cutis verticis gyrata DYRK1A-related intellectual disability syndrome Microcephaly-brachydactyly-kyphoscoliosis syndrome Cataract-intellectual disability-hypogonadism syndrome Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome Megalocornea-intellectual disability syndrome MMEP syndrome Catel-Manzke syndrome Cortical blindness-intellectual disability-polydactyly syndrome Blepharonasofacial malformation syndrome Xeroderma pigmentosum-Cockayne syndrome complex Microcephalic primordial dwarfism, Montreal type RARS-related autosomal recessive hypomyelinating leukodystrophy Temple syndrome due to maternal uniparental disomy of chromosome 14 Omphalocele syndrome, Shprintzen-Goldberg type Orofaciodigital syndrome type 10 Temple syndrome due to paternal 14q32.2 hypomethylation Angelman syndrome due to imprinting defect in 15q11-q13 Wiedemann-Steiner syndrome Hypertelorism-microtia-facial clefting syndrome Fallot complex-intellectual disability-growth delay syndrome 17q11 microdeletion syndrome Cockayne syndrome type 3 Caudal appendage-deafness syndrome White-Sutton syndrome Cockayne syndrome type 2 Biemond syndrome type 2 Upper limb defect-eye and ear abnormalities syndrome 9q33.3q34.11 microdeletion syndrome Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Acrocallosal syndrome Agnathia-holoprosencephaly-situs inversus syndrome Rare genetic intellectual disability Prominent glabella-microcephaly-hypogenitalism syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome Polyendocrine-polyneuropathy syndrome Weaver-Williams syndrome Macrocephaly-developmental delay syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome Intellectual disability-strabismus syndrome Infantile spasms syndrome Bowen-Conradi syndrome Epilepsy-telangiectasia syndrome Orofaciodigital syndrome type 14 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Septopreoptic holoprosencephaly Aymé-Gripp syndrome Hair defect-photosensitivity-intellectual disability syndrome Phosphoserine aminotransferase deficiency, infantile/juvenile form Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 20q11.2 microduplication syndrome Angelman syndrome due to paternal uniparental disomy of chromosome 15 Angelman syndrome due to maternal 15q11q13 deletion Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Bohring-Opitz syndrome Holoprosencephaly-radial heart renal anomalies syndrome Aicardi-Goutières syndrome Lissencephaly Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 3MC syndrome Down syndrome Basel-Vanagaite-Smirin-Yosef syndrome Proximal 16p11.2 microduplication syndrome Woodhouse-Sakati syndrome Micro syndrome Grubben-de Cock-Borghgraef syndrome Hypomyelination-congenital cataract syndrome Transketolase deficiency Cohen syndrome Laurence-Moon syndrome 2p13.2 microdeletion syndrome GMS syndrome Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome Prolidase deficiency 8q21.11 microdeletion syndrome Hall-Riggs syndrome Cornelia de Lange syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Hallermann-Streiff syndrome Middle and/or inner ear anomaly Complex lethal osteochondrodysplasia Zimmermann-Laband syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Severe intellectual disability and progressive spastic paraplegia Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Cerebrooculonasal syndrome Lenz-Majewski hyperostotic dwarfism Microcephaly-cervical spine fusion anomalies syndrome Severe intellectual disability-progressive spastic diplegia syndrome Sturge-Weber syndrome Intellectual disability-myopathy-short stature-endocrine defect syndrome Harrod syndrome White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Hartsfield syndrome Costello syndrome Goldberg-Shprintzen megacolon syndrome Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Branchioskeletogenital syndrome Autosomal dominant non-syndromic intellectual disability Angelman syndrome Intellectual disability-short stature-hypertelorism syndrome CEDNIK syndrome Early-onset epilepsy-intellectual disability-brain anomalies syndrome Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome Rare non-syndromic intellectual disability TBCK-related intellectual disability syndrome Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Intellectual disability, Wolff type WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome C syndrome Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Neurofaciodigitorenal syndrome Fountain syndrome Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Intellectual disability-polydactyly-uncombable hair syndrome Fatty acyl-CoA reductase 1 deficiency Hypotrichosis-intellectual disability, Lopes type Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Skeletal dysplasia-epilepsy-short stature syndrome 17q11.2 microduplication syndrome Neuroectodermal-endocrine syndrome 2q23.1 microdeletion syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Alobar holoprosencephaly Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Lobar holoprosencephaly Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Hennekam syndrome Neurofibromatosis type 1 Atypical autism Lowry-MacLean syndrome Midline interhemispheric variant of holoprosencephaly Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Microcephaly-thin corpus callosum-intellectual disability syndrome 15q24 microdeletion syndrome Isolated anencephaly/exencephaly Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Keutel syndrome Hernández-Aguirre Negrete syndrome PDE4D haploinsufficiency syndrome Genitopatellar syndrome Deafness-onychodystrophy syndrome X-linked non-syndromic intellectual disability Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Ramos-Arroyo syndrome Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Dubowitz syndrome Pyridoxal phosphate-responsive seizures Laminin subunit alpha 2-related congenital muscular dystrophy X-linked intellectual disability, Stocco Dos Santos type Treacher-Collins syndrome Pfeiffer-Palm-Teller syndrome 16p13.3 microduplication syndrome Blepharophimosis-intellectual disability syndrome, MKB type Pitt-Hopkins syndrome Intellectual disability-cataracts-kyphosis syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Z Intellectual disability-spasticity-ectrodactyly syndrome Oliver syndrome 12q14 microdeletion syndrome Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome Angelman syndrome due to a point mutation Partial deletion of the long arm of chromosome 1 Autosomal recessive spastic paraplegia type 55 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Williams syndrome Myoclonic-astatic epilepsy Intellectual disability-expressive aphasia-facial dysmorphism syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Baraitser-Winter cerebrofrontofacial syndrome Cono-spondylar dysplasia Acrocardiofacial syndrome Tatton-Brown-Rahman syndrome Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Cleft palate-short stature-vertebral anomalies syndrome DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion Intellectual disability-cataracts-calcified pinnae-myopathy syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome Blepharophimosis-intellectual disability syndrome, SBBYS type Nicolaides-Baraitser syndrome Alopecia-epilepsy-pyorrhea-intellectual disability syndrome Camptodactyly syndrome, Guadalajara type 3 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome Rubinstein-Taybi syndrome due to CREBBP mutations 22q11.2 deletion syndrome Koolen-De Vries syndrome Wiedemann-Rautenstrauch syndrome Pierpont syndrome Marden-Walker syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome McDonough syndrome DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy Witteveen-Kolk syndrome Contractures-ectodermal dysplasia-cleft lip/palate syndrome Microbrachycephaly-ptosis-cleft lip syndrome Mitochondrial oxidative phosphorylation disorder Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 Craniodigital-intellectual disability syndrome 19p13.3 microduplication syndrome Cantú syndrome 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome Monosomy 22q13.3 Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Xp22.13p22.2 duplication syndrome Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome Myopathy-growth delay-intellectual disability-hypospadias syndrome Autosomal recessive non-syndromic intellectual disability Pontine autosomal dominant microangiopathy with leukoencephalopathy Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Monosomy 18p Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2O SLC35A2-CDG Neurofibromatosis-Noonan syndrome Noonan syndrome Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Lethal omphalocele-cleft palate syndrome Isolated congenital auditory ossicle malformation Osteopathia striata-cranial sclerosis syndrome Osteopetrosis with renal tubular acidosis Sinoatrial node dysfunction and deafness Dysequilibrium syndrome SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome Pachygyria-intellectual disability-epilepsy syndrome Distal nebulin myopathy Acrofacial dysostosis, Rodríguez type Spastic paraplegia-glaucoma-intellectual disability syndrome Usher syndrome type 1 Autosomal recessive spastic paraplegia type 11 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome RERE-related neurodevelopmental syndrome Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Smith-Lemli-Opitz syndrome Freeman-Sheldon syndrome Orofaciodigital syndrome type 3 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome Cockayne syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome 8p23.1 duplication syndrome Congenital cataracts-facial dysmorphism-neuropathy syndrome 2-aminoadipic 2-oxoadipic aciduria Lennox-Gastaut syndrome Waardenburg-Shah syndrome CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome CTCF-related neurodevelopmental disorder Familial paroxysmal ataxia Distal 16p11.2 microdeletion syndrome 1q21.1 microduplication syndrome CHARGE syndrome Trisomy 1q Rubinstein-Taybi syndrome due to 16p13.3 microdeletion GAPO syndrome Adenylosuccinate lyase deficiency 1p21.3 microdeletion syndrome 15q11.2 microdeletion syndrome Alström syndrome Proximal 16p11.2 microdeletion syndrome Alternating hemiplegia of childhood Bardet-Biedl syndrome Beckwith-Wiedemann syndrome 16p13.11 microduplication syndrome Stimmler syndrome Distal 17p13.3 microdeletion syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Microcephalic primordial dwarfism 1q44 microdeletion syndrome FOXP1 Syndrome Cockayne syndrome type 1 Intellectual disability, Birk-Barel type Autism spectrum disorder due to AUTS2 deficiency Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Intellectual disability-seizures-macrocephaly-obesity syndrome X-linked intellectual disability, Cabezas type Bainbridge-Ropers syndrome Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Microduplication Xp11.22p11.23 syndrome Mowat-Wilson syndrome due to monosomy 2q22 Spastic paraplegia type 7 Usher syndrome type 2 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Hypospadias-intellectual disability, Goldblatt type syndrome Bonnemann-Meinecke-Reich syndrome Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Mandibulofacial dysostosis-microcephaly syndrome Johnson neuroectodermal syndrome Joubert syndrome with oculorenal defect Monosomy 5p Infantile choroidocerebral calcification syndrome Microphthalmia-brain atrophy syndrome Noonan syndrome with multiple lentigines Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Gómez-López-Hernández syndrome Partial duplication/triplication of the short arm of chromosome 12 14q24.1q24.3 microdeletion syndrome Cryptorchidism-arachnodactyly-intellectual disability syndrome HANAC syndrome Myhre syndrome Retard de développement et de langage par déficit en SOX5 Syndrome de déficience intellectuelle liée à l'X-hypotonie-anomalie du mouvement Syndrome MEND Syndrome de Temple Déficit combiné de la phosphorylation oxydative type 27 Syndrome de petite taille-âge osseux avancé-arthrose précoce Syndrome de microdélétion 11q22.2q22.3 Syndrome de microcéphalie-hypoplasie cérébelleuse-trouble de la conduction cardiaque Duplication partielle du bras court du chromosome 10 Syndrome d'aphonie-surdité-dystrophie rétinienne-gros orteil bifide-déficience intellectuelle Epilepsie pyridoxino-dépendante Syndrome de Qazi-Markouizos Syndrome de tétraplégie spastique-déficience intellectuelle-rétinite pigmentaire Déficit combiné de la phosphorylation oxydative associé à C12ORF65 Syndrome Pitt-Hopkins-like Syndrome de déficience intellectuelle-dysmorphie faciale par haploinsuffisance de SETD5 Syndrome d'alacrymie-choréoathétose-hépatopathie Syndrome de déficience intellectuelle-calvitie-luxation de la rotule-acromicrie Syndrome de déficience intellectuelle-dysmorphie-hypogonadisme-diabète sucré Syndrome de convulsions-scoliose-macrocéphalie Syndrome d'alopécie-contractures-nanisme-déficience intellectuelle Syndrome de fibrose hépatique-kystes rénaux-déficience intellectuelle Atélostéogenèse type II Atélostéogenèse type III Leucodystrophie hypomyélinisante autosomique récessive associée à VPS11 Syndrome d'ostéopénie-myopie-surdité-déficience intellectuelle-dysmorphie Encéphalopathie épileptique à début précoce et déficience intellectuelle liées à une mutation de GRIN2A Syndrome de Rubinstein-Taybi Syndrome ADNP Syndrome de cataracte-surdité-hypogonadisme Syndrome de microcéphalie-micromélie Syndrome de Kleefstra Syndrome d'atrophie optique-déficience intellectuelle Syndrome de Weaver Syndrome de Shprintzen-Goldberg Syndrome de déficience intellectuelle-apnée obstructive du sommeil-dysmorphie modérée associé à AHDC1 Syndrome de petite taille-brachydactylie-obésité-retard global de développement Syndrome de déficience intellectuelle dû à une mutation ponctuelle de DYRK1A Syndrome de colobome-fente labiopalatine-déficience intellectuelle Syndrome Noonan-like avec leucémie myélomonocytaire juvénile Ataxie spinocérébelleuse type 6 Microcéphalie primaire autosomique récessive Déficience intellectuelle syndromique rare d'origine génétique Syndrome de microcéphalie-cardiomyopathie Encéphalopathie épileptique à début précoce non spécifique Microcéphalie-microcornée type Seemanova Porencéphalie familiale Syndrome de microcéphalie-surdité-déficience intellectuelle Syndrome de déficience intellectuelle-obésité-prognathisme-anomalies oculaires et cutanées Syndrome de microdélétion 20q11.2 Syndrome d'Okamoto Syndrome cérébellofaciodentaire Syndrome de microduplication 17p11.2 Syndrome de microcéphalie-polymicrogyrie-agénésie du corps calleux Syndrome orofaciodigital type 6 Syndrome de déficience intellectuelle-alacrimie-achalasie Syndrome de microdélétion 9p13 Syndrome d'ostéoporose-pseudogliome Syndrome de Temtamy Dysostose acrofaciale type Catane Syndrome de paraplégie spastique-épilepsie-déficience intellectuelle Délétion partielle du bras court du chromosome 9 Syndrome de Smith-Magenis Syndrome cardio-crânien type Pfeiffer Syndrome de dysplasie spondylo-épiphysaire-craniosynostose-fente palatine-cataracte-déficience intellectuelle Syndrome MEDNIK Alpha-thalassémie-déficience intellectuelle liée à l'X Syndrome oro-facio-digital type 5 Syndrome de polydactylie préaxiale-colobome-déficience intellectuelle-petite taille Syndrome de microduplication 15q11q13 Syndrome neurodégénératif progressif avec photosensibilité associé à PCNA Porencéphalie Insensibilité congénitale à la douleur avec déficience intellectuelle sévère Syndrome de dysostose spondylocostale-atrésie anale-malformation génito-urinaire Syndrome différence du développement sexuel-déficience intellectuelle Pseudoprogéria Syndrome de déficience intellectuelle sévère-hypotonie-strabisme-traits grossiers du visage-planovalgus Monosomie distale 7q36 Déficit combiné de la phosphorylation oxydative type 23 Nanisme diastrophique Syndrome de microlissencéphalie-micromélie Syndrome de malformations cérébrales-cardiopathie congénitale-polydactylie post-axiale Syndrome de duplication de gènes contigus PMP22-RAI1 Syndrome de déficience intellectuelle-troubles du sommeil associé à ANK3 Syndrome de croissance excessive-mégalencéphalie-cyphoscoliose sévère Syndrome de microdélétion 19p13.13 Syndrome oculo-cérébro-facial type Kaufman Syndrome de déficience intellectuelle-faiblesse musculaire-petite taille-dysmorphie faciale Syndrome d'agammaglobulinémie-microcéphalie-craniosténose-dermatite sévère Syndrome oro-facio-digital type 2 Syndrome oro-facio-digital type 4 Syndrome de Temple-Baraitser Syndrome de microdélétion 17p13.1 distale SLC39A8-CDG Déficience intellectuelle syndromique non spécifique Déficience intellectuelle type Buenos-Aires Syndrome de Rett atypique Syndrome de Crouzon-acanthosis nigricans Syndrome de délétion 6q terminale Sialurie Arachnodactylie congénitale avec contractures Prédisposition mendélienne aux infections mycobactériennes liée à l'X par déficit en IKBKG Polymicrogyrie Syndrome de microdélétion 7q31 Trouble neurologique du développement-déficience intellectuelle associée à TELO2 Syndrome de Chudley-McCullough Syndrome de duplication inversée du chromosome 15 Déficience intellectuelle liée à l'X syndromique associée à KDM5C Syndrome de Dravet Epilepsie myoclonique juvénile Epilepsie focale migrante Syndrome de Simpson-Golabi-Behmel Syndrome de Keppen-Lubinsky Surdité rare neurosensorielle non syndromique autosomique dominante type DFNA Nécrose striatale bilatérale de l'enfant Polymicrogyrie généralisée bilatérale Syndrome de Menke-Hennekam Retard de développement, déficience intellectuelle et trouble du spectre de l'autisme associés à GRIN2B Retard de développement avec trouble du spectre de l'autisme et démarche instable Syndrome de Larsen Surdité rare neurosensorielle non syndromique autosomique récessive type DFNB Syndrome de Kleefstra dû à une mutation ponctuelle Hétérotopie nodulaire périventriculaire Syndrome de déficience intellectuelle-arythmie cardiaque associé à GNB5 Spectre de retard de développement-épilepsies-anomalies du mouvement lié à GNAO1 Ataxie épisodique type 1 Syndrome d'Axenfeld-Rieger Epilepsie-absence de l'enfance Paraplégie spastique autosomique récessive type 77 Encéphalopathie épileptique infantile précoce Syndrome de Kleefstra dû à une microdélétion 9q34 Dyspraxie verbale de développement isolée Syndrome de microdélétion 5q14.3 Syndrome d'Allan-Herndon-Dudley Syndrome de déficience intellectuelle-cardiopathie congénitale-fente palatine dû à une microdélétion 15q14 Syndrome L1 Hydrocéphalie congénitale communicante Déficit en transporteur de la créatine lié à l'X Syndrome de croissance excessive de Malan Syndrome de Joubert Dystonie dopa-sensible autosomique dominante Syndrome d'Alagille dû à une mutation ponctuelle de NOTCH2 Syndrome de trouble neurodéveloppemental sévère-stéréotypies motrices-constipation chronique-trouble du rythme veille-sommeil associé à NRXN1 Syndrome de déficience intellectuelle liée à l'X-hypoplasie cérébelleuse Epilepsie autosomique dominante avec aura auditive Maladie des noyaux gris centraux sensible à la biotine et à la thiamine Syndrome de Rett Syndrome de Silver-Russell Syndrome 47,XYY Syndrome 48,XXYY Syndrome de blépharophimosis-déficience intellectuelle associé à SMARCA2 Syndrome de Barth Encéphalopathie épileptique et développementale associée à SYNGAP1 Syndrome de microdélétion 2q24 Syndrome de Sotos Encéphalopathie liée à STXBP1 Syndrome de Mowat-Wilson dû à une mutation ponctuelle de ZEB2 Syndrome de déficience intellectuelle liée à l'X-petite taille-surpoids Syndrome de Lamb-Shaffer Neurodégénérescence associée à une protéine bêta-propeller Paraplégie spastique autosomique dominante type 8 Syndrome de Weiss-Kruszka