Term Name: | syndromic microphthalmia 1 |
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Synonyms: | Lenz dysplasia, Lenz microphthalmia, Lenz type microphthalmia, MCOPS1, syndromic microphthalmia 4 |
Definition: | A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in the NAA10 gene on chromosome Xq28. |
Ontology: | Human Disease [DOID:0111799] ( DOID:0111799 ) |