Search Ontology:
Human Disease

primary autosomal recessive microcephaly 2 with or without cortical malformations

Term ID
DOID:0070293
Synonyms
  • MCPH2
Definition
A primary autosomal recessive microcephaly that has_material_basis_in homozygous or compound heterozygous mutation in the WDR62 gene on chromosome 19q13. https://www.ncbi.nlm.nih.gov/pubmed/20890279
References
Ontology
Human Disease   ( DOID:0070293 )
Relationships
is a type of
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Genes Involved
Zebrafish Models