Case
SR2626
Student Mode
Heimler Syndrome (IB8a)
Female
Female
Hidden
SR2626
Student Mode
Heimler Syndrome (IB8a)
Female
Female
History
This four year old girl failed her newborn hearing screen and was fitted with hearing aids at 3 months of age. At age 3 she developed esotropia.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Heimler Syndrome | PEX1 | Gly843Asp GGT>GAT | Gly1044Arg GGA>AGA | AR |
Disease:
Gene:
Allele 1:
Gly843Asp GGT>GAT
Allele 2:
Gly1044Arg GGA>AGA
Inheritance:
AR