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

MIM:616402

Ontology

Human Disease ( DOID:0070279 )

Relationships

is a type of: primary autosomal recessive microcephaly

primary autosomal recessive microcephaly Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models