Gene: [21q21/USH1E] Usher syndrome 1E (autosomal recessive, severe);
|
COM |
By linkage analysis, Chaib et al. (Chaib-1997) identified a genetically distinct form, which they called USH1E and mapped to 21q21." |
|
PAT |
Usher syndrome type I is an autosomal recessive disorder characterized by profound congenital hearing impairment with unintelligible speech, early retinitis pigmentosa, and constant vestibular dysfunction." |
|
REF |
LIN,LOC "Chaib H &: Hum Mol Genet, 6, 27-31, 1997 |
|
KEY |
eye, neu |
|
CLA |
unknown, basic |
|
LOC |
21 q21 |
|
MIM |
MIM: 602097 |
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