| SPASTIC PARAPLEGIA 82, AUTOSOMAL RECESSIVE (SPG82) | |
|
618770
OMIM = Online Mendelian Inheritance of Men | |
very rare autosomal recessive mutation in the PCYT2 gene | |
| Laboratory findings | no specific laboratory findings (P, S, U ,CSF) () |
| Symptoms | blindness, visual loss, visual impairment cerebellar atrophy or hypoplasia cerebral atrophy contractures, joints defect of walking, running, rising or climbing developmental delay dysarthria epilepsy gait disturbance growth retardation, poor growth hearing defect, deafness hyperreflexia hypertonia, spasticity hypotonia intellectual disability/intellectual developmental disorder MRI, brain, abnormalities [-] nystagmus onset, childhood onset, infancy optic atrophy progressive neurologic defect scoliosis seizures seizures, tonic clonic spastic diplegia/quadriplegia/tetraplegia speech development, delayed, abnormal |