Term Name: primary autosomal recessive microcephaly 9
Synonyms: MCPH9
Definition: A primary autosomal recessive microcephaly characterized by head circumference more than 3 standard deviations below the age- and sex-matched population mean and impaired intellectual development, with no other associated malformations and with no apparent etiology that has_material_basis_in homozygous or compound heterozygous mutation in the CEP152 gene on chromosome 15q21.
Ontology: Human Disease [DOID:0070292]   ( DOID:0070292 )

Relationships
is a type of: primary autosomal recessive microcephaly