All individuals with variants in gene SUCO

2 entries on 1 page. Showing entries 1 - 2.
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00016189 - PubMed: Zhang 2014 4-generation family, 11 affected (5F, 6M) F;M no China Chinese - - - - DFNA1 nonsyndromic, bilateral, slowly progressive hearing impairment, starting mildly in high frequencies; age onset late 20s, hearing impairment gradually progressed to all frequencies later, eventually reached severe-to-profound in seventh decade; absent or abnormal otoacoustic emission, no evidence of vestibular dysfunction, no inner ear malformation observed by CT scanning 1 11 Tao Yang
00331569 13DG0499 PubMed: Maddirevula 2018 family M no - Arab - - - - skeletal dysplasia Multiple prenatal fractures, Seizures, Pulmonary hypoplasia, Cutis laxa, Osteopenia, LissenYes 2 1 LOVD
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