Conditions / Musculoskeletal
congenital hypomyelinating neuropathy 3
info · Musculoskeletal
A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis
A congenital hypomyelinating neuropathy characterized by polyhydramnios, severe hypotonia, profoundly impaired psychomotor development, severely decreased nerve conduction properties, hypomyelination, and cerebral and cerebellar atrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CNTNAP1 gene on chromosome 17q21. Contractures may also manifest.
Signs and symptoms
- Epicanthus
- Hearing impairment
- Dystonia
- Cerebellar atrophy
- Gastroesophageal reflux
- CNS hypomyelination
- High palate
- Gingival overgrowth
- Hyperreflexia
- Abnormal foot morphology
Also known as: CHN3