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syndromic microphthalmia 1
Summary
- Synonym
-
- Lenz dysplasia
- Lenz microphthalmia
- Lenz type microphthalmia
- MCOPS1
- 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.
- Super Class
- X-linked monogenic disease syndromic microphthalmia
External Links
- Disease Ontology
- DOID:0111799
- Mondo Disease Ontology
- UMLS
- ORDO
- OMIM
- GARD
