primary autosomal recessive microcephaly 14

Term ID

DOID:0070279

Synonyms

• MCPH14

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

References

• OMIM:616402

Ontology

Human Disease   ( DOID:0070279 )