LD20.2
Syndromes with microcephaly as a major feature
Síndromes com microcefalia como uma característica importante
CategoryDefinition
Developmental syndromes in which an abnormally small head size is a significant feature.
Index Terms
Syndromes with microcephaly as a major featureMicrocephaly - cervical spine fusion anomaliesMicrocephaly - brain defect - spasticity - hypernatremiaMicrocephaly-microcornea syndrome, Seemanova typeMicrocephaly, Amish typeMitochondrial thiamine pyrophosphate carrier deficiencyBowen-Conradi syndromeSevere neonatal-onset encephalopathy with microcephalyCongenital intrauterine infection-like syndromePseudo-TORCH syndromeMicrocephalic osteodysplastic primordial dwarfism types 1 and 3Microcephalic osteodysplastic primordial short stature types 1 and 3MOPD - [microcephalic osteodysplastic primordial dwarfism] types 1 and 3Microcephalic osteodysplastic primordial dwarfism type 2Microcephalic osteodysplastic primordial short stature type 2Microcephalic osteodysplastic primordial dwarfism type IIMPOD - [microcephalic osteodysplastic primordial dwarfism] type 2Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasiaMICPCH - [mental retardation and microcephaly with pontine and cerebellar hypoplasia]