| children | - 19p13.3 microduplication syndrome 1229883008
- 3-phosphoglycerate dehydrogenase deficiency infantile form 733637001
- Achalasia microcephaly syndrome 718573009
- Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome 722281001
- Amish lethal microcephaly 702437000
- Anonychia with microcephaly syndrome 720494009
- Aphalangy and syndactyly with microcephaly syndrome 720498007
- Autosomal dominant primary microcephaly 778070003
- Autosomal recessive chorioretinopathy and microcephaly syndrome 770404004
- Autosomal recessive primary microcephaly 715981004
- Cerebellar-facial-dental syndrome 1237475006
- Cleft palate, large ears, small head syndrome 763130006
- Congenital intrauterine infection-like syndrome 722390006
- Congenital microcephaly, severe encephalopathy, progressive cerebral atrophy syndrome 782757004
- Diffuse cerebral and cerebellar atrophy, intractable seizures, progressive microcephaly syndrome 782737003
- DONSON-related microcephaly, short stature, limb abnormalities spectrum 1236845001
- Epilepsy, microcephaly, skeletal dysplasia syndrome 733031004
- Epiphyseal dysplasia, microcephalus, nystagmus syndrome 721975004
- Extrasystoles, short stature, hyperpigmentation, microcephaly syndrome 771179007
- Filippi syndrome 720954000
- Goldberg Shprintzen megacolon syndrome 717822006
- Hadziselimovic syndrome 719395001
- Hall Riggs syndrome 721008000
- Hennekam Beemer syndrome 722453009
- Hydromicrocephaly 78071008
- Hypogonadotropic hypogonadism, severe microcephaly, sensorineural hearing loss, dysmorphism syndrome 773665006
- Intellectual disability, feeding difficulties, developmental delay, microcephaly syndrome 773552008
- Intellectual disability, hypoplastic corpus callosum, preauricular tag syndrome 722455002
- Jawad syndrome 771470001
- Kawashima Tsuji syndrome 716112005
- Lowry MacLean syndrome 721974000
- MacDermot Winter syndrome 716023007
- Microcephalic cortical malformations, short stature due to RTTN deficiency 1187195007
- Microcephalic osteodysplastic dysplasia Saul Wilson type 723404002
- Microcephalic osteodysplastic primordial dwarfism type II 1208348002
- Microcephalic osteodysplastic primordial dwarfism types I and III 725461009
- Microcephalic primordial dwarfism Alazami type 770564004
- Microcephalic primordial dwarfism Dauber type 770565003
- Microcephalic primordial dwarfism Montreal type 765758008
- Microcephalic primordial dwarfism Toriello type 715482004
- Microcephalic primordial dwarfism, insulin resistance syndrome 1220596009
- Microcephalus cardiomyopathy syndrome 719380003
- Microcephalus cleft palate syndrome 719394002
- Microcephalus with albinism and digital anomaly syndrome 719377004
- Microcephalus with brachydactyly and kyphoscoliosis syndrome 719378009
- Microcephalus with cardiac defect and lung malsegmentation syndrome 719379001
- Microcephalus, brain defect, spasticity, hypernatremia syndrome 770655004
- Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome 764732004
- Microcephalus, complex motor and sensory axonal neuropathy syndrome 763798008
- Microcephalus, glomerulonephritis, marfanoid habitus syndrome 733472005
- Microcephalus, hypergonadotropic hypogonadism, short stature syndrome 733092009
- Microcephalus, lymphedema, chorioretinopathy syndrome 733604003
- Microcephaly with cervical spine fusion anomaly 715462003
- Microcephaly with simplified gyral pattern 1003373003
- Microcephaly, facial dysmorphism, ocular anomalies, multiple congenital anomalies syndrome 1279889005
- Microcephaly, hypogammaglobulinemia, abnormal immunity syndrome 721903007
- Microcephaly, intellectual disability, sensorineural hearing loss, epilepsy, abnormal muscle tone syndrome 1254651003
- Microcephaly, polymicrogyria, corpus callosum agenesis syndrome 773305003
- Microcephaly, seizure, intellectual disability, heart disease syndrome 723304001
- Microcephaly-capillary malformation syndrome 703369003
- MMEP syndrome 715533002
- NDE1-related microhydranencephaly 1237462006
- Neu-Laxova syndrome 77817004
- Nijmegen breakage syndrome-like disorder 766753005
- Oculocerebrofacial syndrome Kaufman type 722056009
- Oculopalatocerebral syndrome 722055008
- Oro-facial digital syndrome type 14 763837007
- Osteogenesis imperfecta, recessive perinatal lethal, with microcephaly AND cataracts 15552004
- Primary microcephaly, epilepsy, permanent neonatal diabetes syndrome 782825008
- Primary microcephaly, mild intellectual disability, young-onset diabetes syndrome 782755007
- Pseudoprogeria syndrome 733086003
- Radioulnar synostosis with microcephaly and scoliosis syndrome 719162001
- RNF13-related severe early-onset epileptic encephalopathy 1222659003
- Seckel syndrome 57917004
- Seemanova Lesny syndrome 715464002
- Severe growth deficiency, strabismus, extensive dermal melanocytosis, intellectual disability syndrome 1172629005
- Severe intellectual disability, agenesis of corpus callosum, facial dysmorphism, cerebellar ataxia syndrome 1208727002
- Severe X-linked intellectual disability Gustavson type 722213009
- Short stature, skeletal dysplasia, retinal degeneration, intellectual disability, sensorineural hearing loss syndrome 1284851009
- Stimmler syndrome 733072002
- TELO2-related intellectual disability, neurodevelopmental disorder 1172626003
- THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 773554009
- X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome 771148008
- X-linked microcephaly, growth retardation, prognathism, cryptorchidism syndrome 1197588008
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