primary autosomal recessive microcephaly 17

Term ID

DOID:0070288

Synonyms

• MCPH17

Definition

A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the CIT gene on chromosome 12q24. https://www.ncbi.nlm.nih.gov/pubmed/27453578

References

• OMIM:617090

Ontology

Human Disease   ( DOID:0070288 )