| children | - 16p12.1p12.3 triplication syndrome 1251450006
- 3-methylglutaconic aciduria type 9 1222672002
- 9q21.13 microdeletion syndrome 1229875002
- Autism spectrum disorder due to AUTS2 deficiency 771512003
- Autosomal dominant intellectual disability, craniofacial anomalies, cardiac defects syndrome 1255319004
- Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 1237625002
- Autosomal recessive leukoencephalopathy, ischemic stroke, retinitis pigmentosa syndrome 771476007
- Basel Vanagaite Smirin Yosef syndrome 1187644009
- CAD-CDG - carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase congenital disorder of glycosylation 1237417007
- Coffin-Lowry syndrome 15182000
- Congenital cataract, severe neonatal hepatopathy, global developmental delay syndrome 1260140008
- Congenital contracture of limbs and face, hypotonia, developmental delay syndrome 1255322002
- Congenital ichthyosis, intellectual disability, spastic quadriplegia syndrome 1208936008
- Congenital labioscrotal agenesis, cerebellar malformation, corneal dystrophy, facial dysmorphism syndrome 1172594000
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 782828005
- Developmental delay with autism spectrum disorder and gait instability 770790004
- Developmental delay, facial dysmorphism syndrome due to MED13L deficiency 787093004
- Early-onset epilepsy, intellectual disability, brain anomalies syndrome 1172627007
- Early-onset progressive encephalopathy, hearing loss, pons hypoplasia, brain atrophy syndrome 1169356004
- Early-onset seizures, distal limb anomalies, facial dysmorphism, global developmental delay syndrome 1187042007
- Fatty acyl-CoA reductase 1 deficiency 1237619001
- Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome 1222658006
- Global developmental delay, lung cysts, overgrowth, Wilms tumor syndrome 782722002
- Global developmental delay, neuro-ophthalmological abnormalities, seizures, intellectual disability syndrome 1172630000
- Global developmental delay, osteopenia, ectodermal defect syndrome 717813005
- Global developmental delay, visual anomalies, progressive cerebellar atrophy, truncal hypotonia syndrome 1172696009
- Growth retardation, mild developmental delay, chronic hepatitis syndrome 774204006
- Infantile hypotonia, oculomotor anomalies, hyperkinetic movements, developmental delay syndrome 1217371005
- Infantile multisystem neurologic, endocrine, pancreatic disease 1260450002
- Intellectual disability, cardiac anomalies, short stature, joint laxity syndrome 1186729007
- Intellectual disability, coarse face, macrocephaly, cerebellar hypotrophy syndrome 782753000
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome 773552008
- Intellectual disability, hyperkinetic movement, truncal ataxia syndrome 787174003
- Intellectual disability, macrocephaly, hypotonia, behavioral abnormalities syndrome 1254652005
- Intellectual disability, seizures, abnormal gait, facial dysmorphism syndrome 1177167002
- Intellectual disability, severe speech delay, mild dysmorphism syndrome 774203000
- ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 1208747005
- Lamb Shaffer syndrome 1251453008
- Macrothrombocytopenia, lymphedema, developmental delay, facial dysmorphism, camptodactyly syndrome 1172685001
- Megaconial congenital muscular dystrophy 1230273004
- Megalencephaly, severe kyphoscoliosis, overgrowth syndrome 1260143005
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microcephaly-capillary malformation syndrome 703369003
- Mucopolysaccharidosis-like plus disease 1187113001
- Neurodevelopmental delay, seizures, ophthalmic anomalies, osteopenia, cerebellar atrophy syndrome 1217381009
- Neurodevelopmental disorder, craniofacial dysmorphism, cardiac defect, skeletal anomalies syndrome 1222710008
- Ocular anomalies, axonal neuropathy, developmental delay syndrome 1172586007
- Palatal anomalies, widely spaced teeth, facial dysmorphism, developmental delay syndrome 1172889005
- Pierpont syndrome 1220594007
- PLAA-associated neurodevelopmental disorder 1217367007
- PMP22-RAI1 contiguous gene duplication syndrome 1172899000
- Posterior-predominant lissencephaly, broad flat pons and medulla-midline crossing defects syndrome 1269233006
- Primary hypomagnesemia, refractory seizures, intellectual disability syndrome 1269236003
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Progressive cerebello-cerebral atrophy 1208481000
- Progressive essential tremor, speech impairment, facial dysmorphism, intellectual disability, abnormal behavior syndrome 1260130005
- Progressive spondyloepimetaphyseal dysplasia, short stature, short fourth metatarsals, intellectual disability syndrome 1187303004
- PRUNE1-related neurological syndrome 1222657001
- RERE-related neurodevelopmental syndrome 1172624000
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Short stature with delayed bone age due to thyroid hormone metabolism deficiency 763890006
- Short stature, brachydactyly, obesity, global developmental delay syndrome 1187277001
- Short ulna, dysmorphism, hypotonia, intellectual disability syndrome 773556006
- Spastic ataxia, dysarthria due to glutaminase deficiency 1255323007
- Spastic paraplegia, intellectual disability, nystagmus, obesity syndrome 1260134001
- Spastic tetraplegia, thin corpus callosum, progressive postnatal microcephaly syndrome 1237418002
- STAG1-related intellectual disability, facial dysmorphism, gastroesophageal reflux syndrome 1187041000
- Syndromic multisystem autoimmune disease due to ITCH deficiency 778023004
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- TMEM94-associated congenital heart defect, facial dysmorphism, developmental delay syndrome 1222708006
- VPS11-related autosomal recessive hypomyelinating leukodystrophy 1187249005
- X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability 1172697000
- X-linked intellectual disability, cerebellar hypoplasia, spondyloepiphyseal dysplasia syndrome 1217228004
- X-linked intellectual disability, global development delay, facial dysmorphism, sacral caudal remnant syndrome 1237420004
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