Term Name: primary autosomal recessive microcephaly 16
Synonyms: MCPH16
Definition: A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the ANKLE2 gene on chromosome 12q24.
Ontology: Human Disease [DOID:0070289]   ( DOID:0070289 )

Relationships
is a type of: primary autosomal recessive microcephaly