Visualize Submit Comment

Metadata
ID	DOID:0070292
Name	primary autosomal recessive microcephaly 9
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. https://pubmed.ncbi.nlm.nih.gov/15806441/, https://www.ncbi.nlm.nih.gov/pubmed/20598275
Xrefs	MIM:614852
Synonyms	MCPH9 [EXACT]
Parent Relationships	is_a primary autosomal recessive microcephaly