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

Смотрите также:

  • Gene: [14q32/USH1A] Usher syndrome 1A (autosomal recessive, severe; retinitis/deafness); [USH1 US1 ]