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Metadata
ID DOID:0111804
PURL http://purl.obolibrary.org/obo/DOID_0111804 Copy
Name syndromic microphthalmia 11
Definition A syndromic microphthalmia characterized by microphthalmia, cleft lip and palate, and agenesis of the corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in VAX1 on chromosome 10q25.3.
https://www.ncbi.nlm.nih.gov/pubmed/22095910
Xrefs

MIM:614402

Synonyms

MCOPS11 [EXACT]

Parent Relationships

is_a syndromic microphthalmia

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