Case
SR573
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Hidden
SR573
Student Mode
Type 1 Usher Syndrome (IB1a)
Female
Female
Highlighted Images
| Age at visit: 37 years | OD | OS |
|---|---|
History
This 37 year old woman has had profound hearing loss since birth. She communicates with American Sign Language.
Pedigree
| Age at visit: 16 years |
| OD | OS | ||
|---|---|---|---|
| Age at visit: 37 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 38 years |
| OD | OS | ||
|---|---|---|---|
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| OD | OS | ||
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| Age at visit: 43 years |
| OD | OS | ||
|---|---|---|---|
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Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Type 1 Usher Syndrome | CDH23 | Glu1435Lys GAG>AAG | Tyr1947Stop TAT>TAG | AR |
Disease:
Gene:
Allele 1:
Glu1435Lys GAG>AAG
Allele 2:
Tyr1947Stop TAT>TAG
Inheritance:
AR