| SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 20; SCAR20 (SNX14) | |
|
616354
OMIM = Online Mendelian Inheritance of Men | |
|
397709 | |
| Sorting nexin-14 | |
rare autosomal recessive mutation in the SNX14 gene | |
| Laboratory findings | |
| Symptoms | ataxia behavior, autism or autistic-like brachydactyly cerebellar atrophy or hypoplasia clinodactyly coarse facial features cortical or cerebral atrophy defect of walking, running, rising or climbing dysmorphism high arched palate hypertonia, spasticity hypertrichosis hyporeflexia hypotonia intellectual disability/intellectual developmental disorder macrocephaly (large calvaria, >2 SD for age) MRI, brain, abnormalities [-] nystagmus onset, infancy psychomotor retardation scoliosis seizures speech development, delayed, abnormal Teeth: delayed eruption or noneruption |