Conditions / Genetic

female-restricted Wieacker-Wolff syndrome

info · Genetic

A syndromic X-linked intellectual disability that has_material_basis_in heterozygous mutation in the ZC4H2 gene on chromosome Xq11.

Signs and symptoms

Posteriorly rotated ears
Achilles tendon contracture
Delayed CNS myelination
Inability to walk
Short stature
Flexion contracture
Hip contracture
Distal muscle weakness
U-Shaped upper lip vermilion
Generalized hypotonia

Also known as: WRWFFR