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CONGENITAL CATARACTS, HEARING LOSS, AND NEURODEGENERATION (CHLND)

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