Visualize Submit Comment
Metadata
ID DOID:0070279
Name primary autosomal recessive microcephaly 14
Definition A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the SASS6 gene on chromosome 1p21.
https://www.ncbi.nlm.nih.gov/pubmed/24951542
Xrefs

MIM:616402

Synonyms

MCPH14 [EXACT]

Parent Relationships

is_a primary autosomal recessive microcephaly

Add an item to the term tracker