LD20.2 Syndromes with microcephaly as a major feature

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2025-01

Developmental syndromes in which an abnormally small head size is a significant feature.

Syndromes with microcephaly as a major feature
Microcephaly - cervical spine fusion anomalies
Microcephaly - brain defect - spasticity - hypernatremia
Microcephaly-microcornea syndrome, Seemanova type
Microcephaly, Amish type
Mitochondrial thiamine pyrophosphate carrier deficiency
Bowen-Conradi syndrome
Severe neonatal-onset encephalopathy with microcephaly
Congenital intrauterine infection-like syndrome
Pseudo-TORCH syndrome
Microcephalic osteodysplastic primordial dwarfism types 1 and 3
Microcephalic osteodysplastic primordial short stature types 1 and 3
MOPD - [microcephalic osteodysplastic primordial dwarfism] types 1 and 3
Microcephalic osteodysplastic primordial dwarfism type 2
Microcephalic osteodysplastic primordial short stature type 2
Microcephalic osteodysplastic primordial dwarfism type II
MPOD - [microcephalic osteodysplastic primordial dwarfism] type 2
Intellectual development disorder and microcephaly with pontine and cerebellar hypoplasia
MICPCH - [mental retardation and microcephaly with pontine and cerebellar hypoplasia]

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