CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND) | |
614482
OMIM = Online Mendelian Inheritance of Men | |
300313 | |
Acetyl-coenzyme A transporter 1 | |
3q25.31 |
|
rare autosomal recessive mutation in the SLC33A1 gene | |
Laboratory findings | Ceruloplasmin dec (serum) Copper dec (serum) |
Symptoms | cataract cerebellar atrophy or hypoplasia cerebral atrophy defect of walking, running, rising or climbing early death hearing defect, deafness hypotonia MRI, brain, abnormalities [-] MRS, brain, abnormalities myelination, incomplete, hypomyelination nystagmus onset, infancy onset, neonatal psychomotor retardation seizures speech development, delayed, abnormal |