Autosomal recessive primary microcephaly
Autosomal recessive primary microcephaly
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.
Also known as MCPH, microcephalia vera, microcephaly vera, microcephaly, primary autosomal recessive, microcephaly, primary, autosomal recessive — per MONDO