Conditions / Genetic
syndromic X-linked intellectual disability type 10
info · Genetic · ICD-10: G25.5
A syndromic X-linked intellectual disability characterized by mild intellectual deficit associated with choreoathetosis and abnormal behaviour that has_material_basis_in mutation in the HSD17B10 gene on chromosome Xp11.22.
Signs and symptoms
- Intellectual disability
- Elevated circulating tiglylglycine concentration
- Progressive neurologic deterioration
- Cerebral cortical atrophy
- Seizure
- Hypotonia
- Generalized hypotonia
- Nystagmus
- Aggressive behavior
- Hypoglycemia
Also known as: HSD10 deficiency, atypical type; HSD10 disease, atypical type; MRXS10; X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome; mental retardation, X-linked syndromic 10