ZFIN Human Disease: primary autosomal recessive microcephaly 17

OBO ID: DOID:0070288

Term Name:	primary autosomal recessive microcephaly 17		Search Ontology:
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 )

Relationships

is a type of:	primary autosomal recessive microcephaly primary autosomal recessive microcephaly Show first 5 Terms

OTHER primary autosomal recessive microcephaly 17 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
CIT	citb cita	Microcephaly 17, primary, autosomal recessive	617090

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None