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 Nodular neuronal heterotopia Syndromic multisystem autoimmune disease due to Itch deficiency Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome Recessive intellectual disability-motor dysfunction-multiple joint contractures 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 3q27.3 microdeletion syndrome 9q31.1q31.3 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 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 Czeizel-Losonci syndrome Moynahan 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 Ossification anomalies-psychomotor developmental delay syndrome Oculo-palato-cerebral syndrome Pterygium colli-intellectual disability-digital anomalies syndrome Congenital heart defect-round face-developmental delay syndrome 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 Floating-Harbor syndrome 3p25.3 microdeletion syndrome Hereditary cryohydrocytosis with reduced stomatin Urban-Rogers-Meyer syndrome Short stature-webbed neck-heart disease syndrome Intellectual disability-brachydactyly-Pierre Robin syndrome Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 13q12.3 microdeletion syndrome Sanjad-Sakati syndrome Facial dysmorphism-shawl scrotum-joint laxity syndrome Congenital non-communicating hydrocephalus Osteopenia-intellectual disability-sparse hair syndrome 3C syndrome Wolf-Hirschhorn syndrome Polymicrogyria with optic nerve hypoplasia Kapur-Toriello syndrome Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Cataract-hypertrichosis-intellectual disability syndrome KBG syndrome 5p13 microduplication syndrome Spastic paraplegia-severe developmental delay-epilepsy syndrome Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Cataract-nephropathy-encephalopathy syndrome AICA-ribosiduria Zechi-Ceide syndrome Primary non-essential cutis verticis gyrata Microcephaly-brachydactyly-kyphoscoliosis syndrome Cataract-intellectual disability-hypogonadism syndrome DYRK1A-related intellectual disability syndrome Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome MMEP syndrome Cortical blindness-intellectual disability-polydactyly syndrome Blepharonasofacial malformation syndrome Xeroderma pigmentosum-Cockayne syndrome complex RARS-related autosomal recessive hypomyelinating leukodystrophy Temple syndrome due to maternal uniparental disomy of chromosome 14 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 Cockayne syndrome type 3 17q11 microdeletion syndrome Caudal appendage-deafness syndrome White-Sutton syndrome Upper limb defect-eye and ear abnormalities syndrome 9q33.3q34.11 microdeletion syndrome Acrocallosal syndrome Agnathia-holoprosencephaly-situs inversus syndrome Prominent glabella-microcephaly-hypogenitalism syndrome Rare genetic intellectual disability Macrocephaly-developmental delay syndrome Epilepsy-microcephaly-skeletal dysplasia syndrome Intellectual disability-strabismus syndrome Bowen-Conradi syndrome Epilepsy-telangiectasia syndrome Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome Septopreoptic holoprosencephaly Aymé-Gripp syndrome Phosphoserine aminotransferase deficiency, infantile/juvenile form 20q11.2 microduplication syndrome Angelman syndrome due to paternal uniparental disomy of chromosome 15 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome Aicardi-Goutières syndrome Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 3MC syndrome Down syndrome Proximal 16p11.2 microduplication syndrome Micro syndrome Cohen syndrome Laurence-Moon syndrome 2p13.2 microdeletion syndrome Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome 8q21.11 microdeletion syndrome Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome Cornelia de Lange syndrome Hallermann-Streiff syndrome Middle and/or inner ear anomaly Complex lethal osteochondrodysplasia Severe intellectual disability and progressive spastic paraplegia Microcephaly-cleft palate-abnormal retinal pigmentation syndrome Microcephaly-cervical spine fusion anomalies 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 Goldberg-Shprintzen megacolon syndrome Branchioskeletogenital syndrome CEDNIK syndrome Early-onset epilepsy-intellectual disability-brain anomalies syndrome Autosomal dominant non-syndromic intellectual disability Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome TBCK-related intellectual disability syndrome Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome Ptosis-syndactyly-learning difficulties syndrome Intellectual disability, Wolff type Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Fountain syndrome Intellectual disability-polydactyly-uncombable hair syndrome 2q23.1 microdeletion syndrome Neuroectodermal-endocrine syndrome Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Lobar holoprosencephaly Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome Neurofibromatosis type 1 Lowry-MacLean syndrome Atypical autism Midline interhemispheric variant of holoprosencephaly Microcephaly-thin corpus callosum-intellectual disability syndrome Isolated anencephaly/exencephaly Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome X-linked non-syndromic intellectual disability Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome Dubowitz syndrome X-linked intellectual disability, Stocco Dos Santos type Pierpont syndrome Marden-Walker syndrome Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination 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 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 Autosomal recessive non-syndromic intellectual disability Pontine autosomal dominant microangiopathy with leukoencephalopathy 22q11.2 deletion syndrome Freeman-Sheldon syndrome CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome Adenylosuccinate lyase deficiency 1p21.3 microdeletion syndrome 15q11.2 microdeletion syndrome Alström syndrome Proximal 16p11.2 microdeletion syndrome Alternating hemiplegia of childhood CTCF-related neurodevelopmental disorder Familial paroxysmal ataxia Distal 16p11.2 microdeletion syndrome Bardet-Biedl syndrome 1q21.1 microduplication syndrome 16p13.11 microduplication syndrome Stimmler syndrome CHARGE syndrome Distal 17p13.3 microdeletion syndrome Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome Microcephalic primordial dwarfism Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome 1q44 microdeletion syndrome Cockayne syndrome Radioulnar synostosis-developmental delay-hypotonia syndrome 8p23.1 duplication syndrome FOXP1 Syndrome Hypospadias-intellectual disability, Goldblatt type syndrome Intellectual disability, Birk-Barel type Trisomy 1q Developmental delay-facial dysmorphism syndrome due to MED13L deficiency Bonnemann-Meinecke-Reich syndrome Autism spectrum disorder due to AUTS2 deficiency Brachydactyly-mesomelia-intellectual disability-heart defects syndrome Mandibulofacial dysostosis-microcephaly syndrome Primary hyperaldosteronism-seizures-neurological abnormalities syndrome Johnson neuroectodermal syndrome Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 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 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 Pfeiffer-Palm-Teller syndrome Blepharophimosis-intellectual disability syndrome, MKB type Pitt-Hopkins syndrome Treacher-Collins syndrome 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 Williams syndrome Myoclonic-astatic epilepsy Koolen-De Vries syndrome Intellectual disability-expressive aphasia-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 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 Rubinstein-Taybi syndrome due to CREBBP mutations Crouzon syndrome-acanthosis nigricans syndrome Sialuria Congenital contractural arachnodactyly Polymicrogyria 7q31 microdeletion syndrome TELO2-related intellectual disability-neurodevelopmental disorder Chudley-McCullough syndrome Inverted duplicated chromosome 15 syndrome Joubert syndrome with oculorenal defect Monosomy 5p Intellectual disability-seizures-macrocephaly-obesity syndrome Infantile choroidocerebral calcification syndrome X-linked intellectual disability, Cabezas type Congenital cataracts-facial dysmorphism-neuropathy syndrome 2-aminoadipic 2-oxoadipic aciduria Bainbridge-Ropers syndrome Lennox-Gastaut syndrome Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome Cataract-deafness-hypogonadism syndrome Microcephaly-micromelia 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 Spinocerebellar ataxia type 6 Autosomal recessive primary microcephaly Microcephaly-microcornea syndrome, Seemanova type Familial porencephaly Microcephaly-deafness-intellectual disability syndrome Microphthalmia-brain atrophy syndrome Noonan syndrome with multiple lentigines Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation Partial duplication/triplication of the short arm of chromosome 12 14q24.1q24.3 microdeletion syndrome Cryptorchidism-arachnodactyly-intellectual disability 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 Distal monosomy 7q36 Combined oxidative phosphorylation defect type 23 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome Diastrophic dysplasia Microlissencephaly-micromelia syndrome Partial duplication of the short arm of chromosome 10 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 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Oculocerebrofacial syndrome, Kaufman type 20q11.2 microdeletion syndrome Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Orofaciodigital syndrome type 3 Spastic paraplegia type 7 Usher syndrome type 2 Waardenburg-Shah syndrome 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 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 47,XYY syndrome 5q14.3 microdeletion syndrome Allan-Herndon-Dudley syndrome Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion L1 syndrome SMARCA2-related blepharophimosis-intellectual disability syndrome Barth syndrome Congenital communicating hydrocephalus X-linked creatine transporter deficiency KDM5C-related syndromic X-linked intellectual disability Juvenile myoclonic epilepsy Malignant migrating focal seizures of infancy STXBP1-related encephalopathy Simpson-Golabi-Behmel syndrome Keppen-Lubinsky syndrome Mowat-Wilson syndrome due to a ZEB2 point mutation Joubert syndrome Developmental delay with autism spectrum disorder and gait instability SYNGAP1-related developmental and epileptic encephalopathy Alagille syndrome due to a NOTCH2 point mutation Okamoto syndrome Cerebellar-facial-dental syndrome 17p11.2 microduplication syndrome Microcephaly-polymicrogyria-corpus callosum agenesis syndrome Orofaciodigital syndrome type 2 Orofaciodigital syndrome type 4 Orofaciodigital syndrome type 6 Distal 17p13.1 microdeletion syndrome Intellectual disability-alacrima-achalasia syndrome Temple-Baraitser syndrome SLC39A8-CDG 9p13 microdeletion syndrome Osteoporosis-pseudoglioma syndrome Temtamy syndrome Acrofacial dysostosis, Catania type Spastic paraplegia-epilepsy-intellectual disability syndrome Rubinstein-Taybi syndrome Partial deletion of the short arm of chromosome 9 Smith-Magenis syndrome Cardiocranial syndrome, Pfeiffer type 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 Pseudoprogeria syndrome Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Hepatic fibrosis-renal cysts-intellectual disability syndrome Atelosteogenesis type II Atelosteogenesis type III VPS11-related autosomal recessive hypomyelinating leukodystrophy Kleefstra syndrome due to a point mutation Lamb-Shaffer syndrome Bilateral generalized polymicrogyria Beta-propeller protein-associated neurodegeneration Periventricular nodular heterotopia 2q24 microdeletion syndrome NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance X-linked intellectual disability-cerebellar hypoplasia syndrome GNB5-related intellectual disability-cardiac arrhythmia syndrome Autosomal dominant spastic paraplegia type 8 Weiss-Kruszka Syndrome Menke-Hennekam syndrome Autosomal dominant epilepsy with auditory features GNAO1-related developmental delay-seizures-movement disorder spectrum GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder Episodic ataxia type 1 Biotin-thiamine-responsive basal ganglia disease Rett syndrome Axenfeld-Rieger syndrome Childhood absence epilepsy Autosomal recessive spastic paraplegia type 77 Silver-Russell syndrome Sotos syndrome Kleefstra syndrome due to 9q34 microdeletion Isolated childhood apraxia of speech Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome Atypical Rett syndrome Laminin subunit alpha 2-related congenital muscular dystrophy Kleefstra syndrome McDonough syndrome Noonan syndrome-like disorder with juvenile myelomonocytic leukemia Rare genetic syndromic intellectual disability Microcephaly-cardiomyopathy syndrome 19p13.3 microduplication syndrome HANAC syndrome Monosomy 18p Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome 16p13.3 microduplication syndrome Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome Intellectual disability-cataracts-calcified pinnae-myopathy syndrome ADNP syndrome Neurofaciodigitorenal syndrome Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome Hypotonia-speech impairment-severe cognitive delay syndrome Alobar holoprosencephaly Prolidase deficiency Distal nebulin myopathy Skeletal dysplasia-epilepsy-short stature syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2Z Basel-Vanagaite-Smirin-Yosef syndrome 15q24 microdeletion syndrome Polyendocrine-polyneuropathy syndrome Difference of sex development-intellectual disability syndrome THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Combined oxidative phosphorylation defect type 7 Intellectual disability-myopathy-short stature-endocrine defect syndrome Severe intellectual disability-progressive spastic diplegia syndrome Intellectual disability-short stature-hypertelorism syndrome Orofaciodigital syndrome type 14 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Fryns syndrome Achondroplasia Galloway-Mowat syndrome GMS syndrome Grubben-de Cock-Borghgraef syndrome Hall-Riggs syndrome Angelman syndrome Septo-optic dysplasia spectrum Hennekam syndrome Omphalocele syndrome, Shprintzen-Goldberg type Mowat-Wilson syndrome Arachnodactyly-abnormal ossification-intellectual disability syndrome Holoprosencephaly-postaxial polydactyly syndrome Sturge-Weber syndrome Hypomyelination-congenital cataract syndrome Intellectual disability-hyperkinetic movement-truncal ataxia syndrome Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 17q11.2 microduplication syndrome Cockayne syndrome type 1 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome ANE syndrome Kabuki syndrome C syndrome Microduplication Xp11.22p11.23 syndrome Rare non-syndromic intellectual disability Malan overgrowth syndrome Lissencephaly Weaver-Williams syndrome Mowat-Wilson syndrome due to monosomy 2q22 COFS syndrome Kagami-Ogata syndrome Autosomal dominant Charcot-Marie-Tooth disease type 2O Lenz-Majewski hyperostotic dwarfism 3-methylglutaconic aciduria type 7 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome Epiphyseal dysplasia-hearing loss-dysmorphism syndrome Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency Fatty acyl-CoA reductase 1 deficiency Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome Costello syndrome Microcephalic primordial dwarfism, Montreal type Rubinstein-Taybi syndrome due to 16p13.3 microdeletion Intellectual disability, Buenos-Aires type 48,XXYY syndrome Bohring-Opitz syndrome GAPO syndrome Biemond syndrome type 2 Ramos-Arroyo syndrome MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect Cerebrooculonasal syndrome 6q terminal deletion syndrome Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Hernández-Aguirre Negrete syndrome Holoprosencephaly-radial heart renal anomalies syndrome Beckwith-Wiedemann syndrome Microcephaly-glomerulonephritis-marfanoid habitus syndrome Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome Deafness-onychodystrophy syndrome Transketolase deficiency Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion Genitopatellar syndrome Cockayne syndrome type 2 Keutel syndrome Hypotrichosis-intellectual disability, Lopes type Pyridoxal phosphate-responsive seizures Corpus callosum agenesis-macrocephaly-hypertelorism syndrome Catel-Manzke syndrome Wiedemann-Rautenstrauch syndrome Hair defect-photosensitivity-intellectual disability syndrome Woodhouse-Sakati syndrome Zimmermann-Laband syndrome Marfanoid habitus-autosomal recessive intellectual disability syndrome Megalocornea-intellectual disability syndrome Microcephaly-seizures-intellectual disability-heart disease syndrome Cantú syndrome Autosomal dominant dopa-responsive dystonia Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome Crane-Heise syndrome Craniodigital-intellectual disability syndrome Angelman syndrome due to maternal 15q11q13 deletion Larsen syndrome Gómez-López-Hernández syndrome PDE4D haploinsufficiency syndrome Rare autosomal dominant non-syndromic sensorineural deafness type DFNA X-linked intellectual disability-short stature-overweight syndrome Infantile bilateral striatal necrosis Temple syndrome due to paternal 14q32.2 microdeletion Rare autosomal recessive non-syndromic sensorineural deafness type DFNB Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome