Conditions / Syndrome
Halperin-Birk syndrome
info · Syndrome
A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on c
A syndrome characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy that has_material_basis_in homozygous mutation in the SEC31A gene on chromosome 4q21.22.
Signs and symptoms
- Hypertonia
- Hearing impairment
- Inability to walk
- Flexion contracture
- Agenesis of corpus callosum
- Gastroesophageal reflux
- Failure to thrive
- Thick vermilion border
- Developmental cataract
- Pseudobulbar paralysis
Also known as: HLBKS; NEDSOSB; NEURODEVELOPMENTAL DISORDER WITH SPASTIC QUADRIPLEGIA, OPTIC ATROPHY, SEIZURES, AND STRUCTURAL BRAIN ANOMALIES