Case
SR1829
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Hidden
SR1829
Student Mode
Type 1 Usher Syndrome (IB1a)
Male
Male
Highlighted Images
| Age at visit: 9 years | OD | OS |
|---|---|
History
This 9 year old boy received his 1st cochlear implant at age 11 months. He also has difficulty with balance. For the past few years he has increasing difficulty in dim light.
Pedigree
| Age at visit: 9 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
|---|---|---|---|
| Age at visit: 11 years |
| OD | OS | ||
|---|---|---|---|
| OD | OS | ||
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| Age at visit: 13 years |
| OD | OS | ||
|---|---|---|---|
| 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 | MYO7A | Ser211Gly AGC>GGC | Gly214Arg GGA>AGA | AR |
Disease:
Gene:
Allele 1:
Ser211Gly AGC>GGC
Allele 2:
Gly214Arg GGA>AGA
Inheritance:
AR