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.
Age at visit: 10 years |
Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
---|---|---|---|---|
Cohen Syndrome | VPS13B | Arg639Stop CGA>TGA | Deletion Exons 17-19 | AR |