Conditions / Genetic
syndromic X-linked intellectual disability Hedera type
info · Genetic
A syndromic X-linked intellectual disability characterized by mild to moderate mental retardation and epilepsy that has_material_basis_in mutation in the ATP6AP2 gene on chromosome Xp11.
Signs and symptoms
- Narrow forehead
- Bradykinesia
- Delayed CNS myelination
- Astereognosis
- Apraxia
- Seizure
- Agraphesthesia
- Thin corpus callosum
- Intellectual disability
- Hyporeflexia
Also known as: MRXE; MRXSH; X-linked mental retardation with epilepsy; mental retardation, X-linked, syndromic, Hedera type