SR544

Type 2 Usher Syndrome (IB1b)

Male

Male

SR544

Type 2 Usher Syndrome (IB1b)

Male

Male

Highlighted Images

Age at visit: 67 years
OD OS

Age at visit: 67 years

Diagnosis & molecular findings

Disease Gene Allele 1 variant(s) Allele 2 variant(s) Inheritance mode
Type 2 Usher Syndrome CLRN1 Asn48Lys AAT>AAG Asn48Lys AAT>AAG AR
Gene:
Allele 1:
Asn48Lys AAT>AAG
Allele 2:
Asn48Lys AAT>AAG
Inheritance:
AR
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