syndromic microphthalmia 1

info · Genetic

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.

Signs and symptoms

Prominent fingertip pads
Generalized hypotonia
Intellectual disability
Anophthalmia
Pectus excavatum
Motor delay
Iris coloboma
High palate
Clinodactyly
Scoliosis

Also known as: Lenz dysplasia; Lenz microphthalmia; Lenz type microphthalmia; MCOPS1