Conditions / Genetic
non-syndromic X-linked intellectual disability 93
info · Genetic
A non-syndromic X-linked intellectual disability characterized by mild to moderate intellectual disability and macrocephaly that has_material_basis_in hemizygous mutation in the BRWD3 gene on chromosome Xq21.1.
Signs and symptoms
- Mild intellectual disability
- Intellectual disability
- Macrotia
- Macrocephaly
- Long face
- Hypotonia
- Cupped ear
- Frontal bossing
- Cryptorchidism
- Delayed speech and language development
Also known as: MRX93; X-linked mental retardation 93; X-linked mental retardation with macrocephaly