Conditions / Genetic
Prieto syndrome
info · Genetic
A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3
A syndromic X-linked intellectual disability characterized by intellectual disability, facial dysmorphism, patella luxation, clinodactyly, subcortical cerebral atrophy, and abnormal growth of the teeth that has_material_basis_in hemizygous mutation in the WNK3 gene on chromosome Xp11.
Signs and symptoms
- Epicanthus
- Abnormality of the dentition
- Strabismus
- Inguinal hernia
- Hypotonia
- Generalized hypotonia
- Osteoporosis
- Nystagmus
- Hypertelorism
- Radial deviation of finger
Also known as: Prieto-Badia-Mulas syndrome; X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome