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 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