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CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE

CHONDRODYSPLASIA PUNCTATA, X-LINKED RECESSIVE
CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT; CHONDRODYSPLASIA PUNCTATA, X-LINKED DOMINANT TYPE
302950
OMIM = Online Mendelian Inheritance of Men
79345
Arylsulfatase E
Xp22.33
Q77.3
rare
X-linked recessive
mutation in the arylsulfatase E gene
Laboratory findings    Steroid sulfatase dec (fibroblasts)
Symptoms    cataract
    hearing defect, deafness
    ichthyosis
    mental retardation
    nasal hypoplasia
    onset, childhood
    onset, infancy
    short stature
    X-ray, abnormalities