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 axonale motorische und sensorische Neuropathie-Optikusatrophie-Neurodegeneration-Syndrom Temple-Syndrom durch paternale Mikrodeletion 14q32.2 Achondroplasie Ophthalmoplegie-Intelligenzminderung-Lingua scrotalis-Syndrom Katarakt-Nephropathie-Enzephalopathie-Syndrom Zerebelläre Ataxie, autosomal-rezessive, durch CWF19L1-Mangel Katarakt-Intelligenzminderung-Analatresie-Uropathie-Syndrom Aortenbogen-Anomalie-Gesichtsdysmorphie-Intelligenzminderung-Syndrom Galloway-Mowat-Syndrom Kombinierter Defekt der oxidativen Phosphorylierung Typ 7 Septo-optische Dysplasie-Spektrum AICA-Ribosidurie Zechi-Ceide-Syndrom Primäre Cutis verticis gyrata, nicht-essentielle Intelligenzminderung-Syndrom, DYRK1A-assoziiertes Mikrozephalie - Brachydaktylie - Kyphoskoliose Katarakt-Intelligenzminderung-Hypogonadismus-Syndrom Postnatale Microzephalie-infantile Hypotonie-spastische Diplegie-Dysarthrie-Intelligenzminderung-Syndrom Megalokornea-Intelligenzminderung-Syndrom MMEP-Syndrom Catel-Manzke-Syndrom Kortikale Blindheit-Intelligenzminderung-Polydaktylie-Syndrom Blepharo-naso-faziales Syndrom Xeroderma pigmentosum/Cockayne-Syndrom-Komplex Kleinwuchs, mikrozephaler primordialer, Typ Montreal Hypomyelinisierende Leukodystrophie, RARS-abhängige, autosomal-rezessive Temple-Syndrom bei maternaler uniparentaler Disomie von Chromosom 14 Omphalozele-Syndrom Typ Shprintzen-Goldberg Oro-fazio-digitales Syndrom Typ 10 Temple-Syndrom durch paternale 14q32.2-Hypomethylierung Angelman-Syndrom durch Imprinting-Defekt in 15q11-q13 Wiedemann-Steiner-Syndrom Hypertelorismus - Mikrotie - Gesichtsspalten Fallot-Tetralogie mit Intelligenzminderung und Wachstumsverzögerungen Mikrodeletionssyndrom 17q11 Cockayne-Syndrom Typ 3 Kaudaler Appendix-Taubheit-Syndrom White-Sutton-Syndrom Cockayne-Syndrom Typ 2 Biemond-Syndrom Typ 2 Fehlbildungen der oberen Gliedmaßen - Augen- und Ohranomalien Mikrodeletionssyndrom 9q33.3q34.11 Infantile Spasmen-psychomotorische Retardierung-progressive Hirnatrophie-Basalganglienerkrankung-Syndrom Akrokallosal-Syndrom Agnathie-Holoprosenzephalie-Situs inversus-Syndrom Intelligenzminderung, genetisch bedingte, seltene Prominente Glabella - Mikrozephalie - Hypogenitalismus Arachnodaktylie-Ossifikationsstörungen-Intelligenzminderung-Syndrom Polyendokrine Polyneuropathie-Syndrom Weaver-Williams-Syndrom Makrozephalie-Entwicklungsverzögerung-Syndrom Mikrozephalie-Intelligenzminderung-sensorineuraler Hörverlust-Epilepsie-abnormer Muskeltonus-Syndrom Epilepsie-Mikrozephalie-Skelettdysplasie-Syndrom Intelligenzminderung-Strabismus-Syndrom West-Syndrom Bowen-Conradi-Syndrom Epilepsie-Teleangiektasie-Syndrom Oro-fazio-digitales Syndrom Typ 14 Schwere motorische und intellektuelle Beeinträchtigung-sensorinsorineurale Schwerhörigkeit-Dystonie-Syndrom Holoprosenzephalie, septopräoptische Aymé-Gripp-Syndrom Haaranomalien - Photosensibilität - Intelligenzminderung Phosphoserin-Aminotransferase-Mangel, infantile/juvenile Form Hypohidrose-Schmelzhypoplasie-Palmoplantarkeratose-Intelligenzminderung-Syndrom Mikroduplikationssyndrom 20q11.2 Angelman-Syndrom durch paternale UPD 15 Angelman-Syndrom durch maternale Deletion 15q11q13 Metaphysäre Dysostose-Intelligenzminderung-Schallleitungsschwerhörigkeit-Syndrom Bohring-Opitz-Syndrom Steinfeld-Syndrom Aicardi-Goutières-Syndrom Lissenzephalie Männlicher Hypogonadismus-Intelligenzminderung-Skelettanomalien-Syndrom Epiphysäre Dysplasie mit Hörverlust und Dysmorphien 3MC-Syndrom Down-Syndrom Basel-Vanagaite-Smirin-Yosef-Syndrom Proximales Mikroduplikationssyndrom 16p11.2 Woodhouse-Sakati-Syndrom Mikro-Syndrom Grubben-de-Cock-Borghgraef-Syndrom Hypomyelinisierung - kongenitale Katarakt Transketolase-Mangel Cohen-Syndrom Laurence-Moon-Syndrom Mikrodeletionssyndrom 2p13.2 GMS-Syndrom Gesichtsdysmorphie - Makrozephalie - Myopie - Dandy-Walker-Malformation Makrothrombozytopenie-Lymphödem-Entwicklungsverzögerung-Gesichtsdysmorphien-Kamptodaktylie-Syndrom Prolidase-Mangel Mikrodeletionssyndrom 8q21.11 Hall-Riggs-Syndrom Cornelia de Lange-Syndrom Allgemeine Entwicklungsverzögerung-neuroophthalmologische Anomalien-Krämpfe-Intelligenzminderung-Syndrom Hallermann-Streiff-Syndrom Anomalie des Mittel- und/oder Innenohrs Osteochondrodysplasie, komplexe letale Zimmerman-Laband-Syndrom Mikrozephalie-Krämpfe-Intelligenzminderung-Kardiopathie-Syndrom Intelligenzminderung, schwere, mit progressiver spastischer Paraplegie Mikrozephalie-Gaumenspalte-abnorme Retinapigmentierung-Syndrom Zerebro-okulo-nasales Syndrom Kleinwuchs, hyperostotischer, Typ Lenz-Majewski Mikrozephalie - Fusionsanomalien der Halswirbelsäule Schwere Intelligenzminderung-progressive spastische Diplegie-Syndrom Sturge-Weber-Syndrom Intelligenzminderung-Myopathie-Kleinwuchs-endokrine Störung-Syndrom Harrod-Syndrom Hypoplasie der weißen Gehirnsubstanz-Corpus-callosum-Agenesie-Intelligenzminderung-Syndrom Schwere Intelligenzminderung-eingeschränktes Sprachvermögen-Strabismus-grimassierendes Gesicht-lange Finger-Syndrom Hartsfield-Syndrom Costello-Syndrom Goldberg-Shprintzen-Megakolon-Syndrom Retinitis pigmentosa-juvenile Katarakt-Kleinwuchs-Intelligenzminderung Syndrom Branchio-skeleto-genitales Syndrom Intelligenzminderung, nicht-syndromale, autosomal-dominante Angelman-Syndrom Intelligenzminderung-Kleinwuchs-Hypertelorismus-Syndrom CEDNIK-Syndrom Epilepsie mit frühem Beginn-Intelligenzminderung-Gehirnanomalien-Syndrom Autosomal-rezessive zerebelläre Ataxie-Epilepsie-Intelligenzminderung-Syndrom Seltene nicht-syndromale Intelligenzminderung Intelligenzminderung-Syndrom, TBCK-assoziiertes Neurofibromatose Typ 1 durch NF1-Genmutation oder intragenische Deletion Intelligenzminderung-Krämpfe-Hypophosphatasie-ophthalmologische und skelettale Anomalien-Syndrom Ptosis - Syndaktylie - Lernschwierigkeiten Intelligenzminderung Typ Wolff WAC-assoziiertes Syndrom der Gesichtsdysmorphie mit Entwicklungsverzögerung und Verhaltensstörungen C-Syndrom Progressive spondyloepimetaphysäre Dysplasie-Kleinwuchs-kurze vierte Metatarsalen-Intelligenzminderung-Syndrom Neuro-fazio-digito-renales Syndrom Fountain-Syndrom Schwere Wachstumsstörung-Strabismus-extensive dermale Melanozytose-Intelligenzminderung-Syndrom Intelligenzminderung-Polydaktylie-unkämmbare Haare-Syndrom Fettsäure Acyl-CoA-Reduktase 1-Mangel Hypotrichose mit Intelligenzminderung Typ Lopes Intelligenzminderung-Hyperkinetische Bewegungsstörungen-Trunkale Ataxie-Syndrom Skelettdysplasie - Epilepsie - Kleinwuchs Mikroduplikationssyndrom 17q11.2 Neuroektodermales endokrines Syndrom Mikrodeletionssyndrom 2q23.1 Schwerhörigkeit - Genitalanomalien - Synostose der Mittelhand- und der Mittelfussknochen Holoprosenzephalie, alobäre Ichthyose-Alopezie-Eklabium-Ektropion-Intelligenzminderung-Syndrom Holoprosenzephalie, lobäre Rezidivierende metabolische enzephalomyopathische Krisen-Rhabdomyolyse-Herzrhythmusstörung-Intelligenzminderung-Syndrom Hennekam-Syndrom Neurofibromatose Typ 1 Autismus, atypischer Lowry-Maclean-Syndrom Mittlere interhemisphärische Fusionsvariante der Holoprosenzephalie Schwere Intelligenzminderung-Epilepsie-Analanomalien-Hypoplastische distale Phalangen Mikrozephalie-dünnes Corpus callosum-Intelligenzminderung-Syndrom Mikrodeletionssyndrom 15q24 Anenzephalie/Exenzephalie, isolierte Intelligenzminderung-Adipositas-Hirnfehlbildungen-Gesichtsdysmorphie-Syndrom Keutel-Syndrom Hernández-Aguirre-Negrete-Syndrom PDE4D-Haploinsuffizienz-Syndrom Genito-patellares Syndrom Schwerhörigkeit-Onychodystrophie-Syndrom Intelligenzminderung, nicht-syndromale, X-chromosomale Kongenitale labioskrotale Agenesie-zerebelläre Fehlbildung-Hornhautdystrophie-Gesichtsdysmorphie-Syndrom Ramos-Arroyo-Syndrom Schwere Intelligenzminderung-Corpus callosum-Agenesie-faziale Dysmorphien-zerebelläre Ataxie-Syndrom Dubowitz-Syndrom Pyridoxalphosphat-abhängige Epilepsie Muskeldystrophie, kongenitale, Typ 1A Intelligenzminderung, X-chromosomale, Typ Stocco Dos Santos Treacher-Collins-Syndrom Pfeiffer-Palm-Teller-Syndrom Mikroduplikationssyndrom 16p13.3 Blepharophimose-Intelligenzminderung-Syndrom Typ MKB Pitt-Hopkins-Syndrom Intelligenzminderung-Katarakte-Kyphose-Syndrom Charcot-Marie-Tooth-Krankheit, autosomal-dominante, Typ 2Z Intelligenzminderung-spastische Paraplegie-Ektrodaktylie-Syndrom Oliver-Syndrom Mikrodeletionssyndrom 12q14 Polyneuropathie-Intelligenzminderung-Akromikrie-vorzeitige Menopause-Syndrom Angelman-Syndrom durch Punktmutation Chromosom 1q-Deletion, partielle Spastische Paraplegie, autosomal-rezessive, Typ 55 Neurologische Entwicklungsstörungen-kranio-faziale Dysmorphie-Herzfehler-Skelettanomalien-Syndrom Williams-Syndrom Epilepsie mit myoklonisch-astatischen Krisen Intelligenzminderung-expressive Aphasie-Gesichtsdysmorphien-Syndrom THOC6-assoziierte Entwicklungsverzögerung mit Mikrozephalie und Gesichtsdysmorphien Baraitser-Winter zerebro-fronto-faziales Syndrom Cono-spondyläre Dysplasie Akro-kardio-faziales Syndrom Tatton-Brown-Rahman-Syndrom Verzögerte Sprachentwicklung-Gesichtsasymmetrie-Strabismus-Ohrmuscheldefekte-Syndrom Gaumenspalte - Kleinwuchs - Fehlbildungen der Wirbel Intelligenzminderung-Syndrom, DYRK1A-assoziiertes, durch Mikrodeletion 21q22.13q22.2 Intelligenzminderung-Katarakt-kalzifizierte Ohrknorpel-Myopathie-Syndrom FBLN1-abhängiges Entwicklungsverzögerung-ZNS-Anomalien-Syndaktylie-Syndrom Blepharophimose-Intelligenzminderung-Syndrom Typ SBBYS Nicolaides-Baraitser-Syndrom Alopezie-Epilepsie-Pyorrhoe-Intelligenzminderung-Syndrom Kamptodaktylie Guadalajara Typ 3 Charcot-Marie-Tooth-Krankheit-Schwerhörigkeit-Intelligenzminderung-Syndrom Rubinstein-Taybi-Syndrom durch CREBBP-Genmutation Deletion 22q11 Koolen-de Vries-Syndrom Wiedemann-Rautenstrauch-Syndrom Pierpont-Syndrom Marden-Walker-Syndrom Leukoenzephalopathie-Ataxie-Hypodontie-Hypomyelinisierung-Syndrom McDonough-Syndrom DYNC1H1-assoziierte autosomal-dominante im Kindesalter beginnende proximale spinale Muskelatrophie Witteveen-Kolk-Syndrom Kontrakturen-ektodermale Dysplasie-Lippen-Kiefer-Gaumenspalte-Syndrom Mikrobrachyzephalie - Ptosis - Lippenspalte Mitochondriale Störungen der oxidativen Phosphorylierung Alpha-Thalassämie-Intelligenzminderung-Syndrom, gekoppelt an Chr. 16 Kraniodigitales Syndrom mit Intelligenzminderung Mikroduplikationssyndrom 19p13.3 Hypertrichose mit Osteochondrodysplasie vom Typ Cantú 3-Phosphoglycerat-Dehydrogenase-Mangel, infantile/juvenile Form Progressiver essentieller Tremor-Sprachstörung-Gesichtsdysmorphie-Intelligenzminderung-Verhaltensstörung-Syndrom Monosomie 22q13 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 Developmental and speech delay due to SOX5 deficiency X-linked intellectual disability-hypotonia-movement disorder syndrome MEND syndrome Temple syndrome Combined oxidative phosphorylation defect type 27 Short stature-advanced bone age-early-onset osteoarthritis syndrome 11q22.2q22.3 microdeletion syndrome Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Partial duplication of the short arm of chromosome 10 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Pyridoxine-dependent epilepsy Qazi-Markouizos syndrome Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome C12ORF65-related combined oxidative phosphorylation defect Pitt-Hopkins-like syndrome Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Alacrimia-choreoathetosis-liver dysfunction syndrome Intellectual disability-balding-patella luxation-acromicria syndrome Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Seizures-scoliosis-macrocephaly syndrome Alopecia-contractures-dwarfism-intellectual disability syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Atelosteogenesis type II Atelosteogenesis type III VPS11-related autosomal recessive hypomyelinating leukodystrophy Osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Rubinstein-Taybi syndrome ADNP syndrome Cataract-deafness-hypogonadism syndrome Microcephaly-micromelia syndrome Kleefstra syndrome Optic atrophy-intellectual disability syndrome Weaver syndrome Shprintzen-Goldberg syndrome AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Short stature-brachydactyly-obesity-global developmental delay syndrome Intellectual disability syndrome due to a DYRK1A point mutation Uveal coloboma-cleft lip and palate-intellectual disability Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Spinocerebellar ataxia type 6 Autosomal recessive primary microcephaly Rare genetic syndromic intellectual disability Microcephaly-cardiomyopathy syndrome Non-specific early-onset epileptic encephalopathy Microcephaly-microcornea syndrome, Seemanova type Familial porencephaly Microcephaly-deafness-intellectual disability syndrome Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 20q11.2 microdeletion syndrome Okamoto syndrome Cerebellar-facial-dental syndrome 17p11.2 microduplication syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Orofaciodigital syndrome type 6 Intellectual disability-alacrima-achalasia syndrome 9p13 microdeletion syndrome Osteoporosis-pseudoglioma syndrome Temtamy syndrome Acrofacial dysostosis, Catania type Spastic paraplegia-epilepsy-intellectual disability syndrome Partial deletion of the short arm of chromosome 9 Smith-Magenis syndrome Cardiocranial syndrome, Pfeiffer type Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome MEDNIK syndrome Alpha-thalassemia-X-linked intellectual disability syndrome Orofaciodigital syndrome type 5 Preaxial polydactyly-colobomata-intellectual disability syndrome 15q11q13 microduplication syndrome PCNA-related progressive neurodegenerative photosensitivity syndrome Porencephaly Congenital insensitivity to pain with severe intellectual disability Spondylocostal dysostosis-anal atresia-genitourinary malformation syndrome Difference of sex development-intellectual disability syndrome Pseudoprogeria syndrome Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Distal monosomy 7q36 Combined oxidative phosphorylation defect type 23 Diastrophic dysplasia Microlissencephaly-micromelia syndrome Brain malformation-congenital heart disease-postaxial polydactyly syndrome PMP22-RAI1 contiguous gene duplication syndrome ANK3-related intellectual disability-sleep disturbance syndrome Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 19p13.13 microdeletion syndrome Oculocerebrofacial syndrome, Kaufman type Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 4 Temple-Baraitser syndrome Distal 17p13.1 microdeletion syndrome SLC39A8-CDG Non-specific syndromic intellectual disability Intellectual disability, Buenos-Aires type Atypical Rett syndrome Crouzon syndrome-acanthosis nigricans syndrome 6q terminal deletion syndrome Sialuria Congenital contractural arachnodactyly X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency Polymicrogyria 7q31 microdeletion syndrome TELO2-related intellectual disability-neurodevelopmental disorder Chudley-McCullough syndrome Inverted duplicated chromosome 15 syndrome KDM5C-related syndromic X-linked intellectual disability Dravet syndrome Juvenile myoclonic epilepsy Malignant migrating focal seizures of infancy Simpson-Golabi-Behmel syndrome Keppen-Lubinsky syndrome Rare autosomal dominant non-syndromic sensorineural deafness type DFNA Infantile bilateral striatal necrosis Bilateral generalized polymicrogyria Menke-Hennekam syndrome GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Developmental delay with autism spectrum disorder and gait instability Larsen syndrome Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Kleefstra syndrome due to a point mutation Periventricular nodular heterotopia GNB5-related intellectual disability-cardiac arrhythmia syndrome GNAO1-related developmental delay-seizures-movement disorder spectrum Episodic ataxia type 1 Axenfeld-Rieger syndrome Childhood absence epilepsy Autosomal recessive spastic paraplegia type 77 Early infantile epileptic encephalopathy Kleefstra syndrome due to 9q34 microdeletion Isolated childhood apraxia of speech 5q14.3 microdeletion syndrome Allan-Herndon-Dudley syndrome Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion L1 syndrome Congenital communicating hydrocephalus X-linked creatine transporter deficiency Malan overgrowth syndrome Joubert syndrome Autosomal dominant dopa-responsive dystonia Alagille syndrome due to a NOTCH2 point mutation NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance X-linked intellectual disability-cerebellar hypoplasia syndrome Autosomal dominant epilepsy with auditory features Biotin-thiamine-responsive basal ganglia disease Rett syndrome Silver-Russell syndrome 47,XYY syndrome 48,XXYY syndrome SMARCA2-related blepharophimosis-intellectual disability syndrome Barth syndrome SYNGAP1-related developmental and epileptic encephalopathy 2q24 microdeletion syndrome Sotos syndrome STXBP1-related encephalopathy Mowat-Wilson syndrome due to a ZEB2 point mutation X-linked intellectual disability-short stature-overweight syndrome Lamb-Shaffer syndrome Beta-propeller protein-associated neurodegeneration Autosomal dominant spastic paraplegia type 8 Weiss-Kruszka Syndrome