Term Name: | primary autosomal recessive microcephaly 2 with or without cortical malformations |
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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. |
Ontology: | Human Disease [DOID:0070293] ( DOID:0070293 ) |