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autosomal recessive primary microcephaly

Disease Summary
Associated Targets (27)
Tbio

23

Tclin

2

Tchem

2


GARD Rare
Mondo 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.
Disease Ontology Description A primary microcephaly characterized by microcephaly present at birth, where the brain is small but has normal architecture, and nonprogressive mental retardation that has material basis in an autosomal recessive mutation.
Mondo Term and Equivalent IDs
MONDO:0016660:  autosomal recessive primary microcephaly
DC:0000277: 
GARD:0012117: 
MESH:C579935: 
OMIMPS:251200: 
Orphanet:2512: 
SCTID:715981004: 
UMLS:C3711387: