autosomal recessive primary microcephaly
MONDO:0016660Also known as: true microcephaly, MCPH, microcephalia vera, microcephaly vera, microcephaly, primary autosomal recessive
- MONDO:
- MONDO:0016660
- Orphanet:
- 2512 ↗
Rare disease43 associated genes
Description
Autosomal recessive primary microcephaly (MCPH) is a rare genetically heterogeneous disorder of neurogenic brain development characterized by reduced head circumference at birth with no gross anomalies of brain architecture and variable degrees of intellectual impairment.
Associated genes
+33 more genes — install the extension to see the full list inline on any page.