SR531

Cohen Syndrome (IB9)

Male

Male

SR531

Cohen Syndrome (IB9)

Male

Male

Highlighted Images

Age at visit: 10 years
OD OS

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
Age at visit: 11 years
Age at visit: 12 years
Age at visit: 14 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
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