/autosomal recessive primary microcephaly

autosomal recessive primary microcephaly

Rare Disease

MONDO:0016660

Also Known As

true microcephalyMCPHmicrocephalia veramicrocephaly veramicrocephaly, primary autosomal recessivemicrocephaly, primary, autosomal recessive

Definition

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.