X-linked recessive chondrodysplasia punctata | |
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Classification and external resources | |
ICD-10 | Q77.3 |
OMIM | 302950 |
DiseasesDB | 34567 |
GeneReviews | Chondrodysplasia Punctata 1, X-Linked Recessive |
X-linked recessive chondrodysplasia punctata is a type of chondrodysplasia punctata that can involve the skin, hair, and cause short stature with skeletal abnormalities, cataracts, and deafness.[1]:500
It has been associated with arylsulfatase E.[2]