Case
SR531
Student Mode
Cohen Syndrome (IB9)
Male
Male
Hidden
SR531
Student Mode
Cohen Syndrome (IB9)
Male
Male
History
This 10 year old male was noted to have microcephaly and hypotony at birth. At 2 months of age he had meningitis and was found to have a low neutrophil count. He has always preferred bright light to dim light.
Pedigree
| Age at visit: 10 years |
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cohen Syndrome | VPS13B | Arg639Stop CGA>TGA | Deletion Exons 17-19 | AR |
Disease:
Gene:
Allele 1:
Arg639Stop CGA>TGA
Allele 2:
Deletion Exons 17-19
Inheritance:
AR