Term Name: syndromic microphthalmia 1
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 )

Relationships
is a type of: syndromic microphthalmia X-linked monogenic disease