Case
SR597
Student Mode
Cohen Syndrome (IB9)
Female
Female
Hidden
SR597
Student Mode
Cohen Syndrome (IB9)
Female
Female
History
This 34 year old woman first came to our department at age 3 for evaluation of her esotropia and left hypertropia. She had a history of developmental delay and an almost non-recordable electroretinogram. As an adult her cognitive impairment is stable. She is a very happy person and greets everyone with a smile and a hug. She has long arms and slender fingers and her body seems heavier than her limbs.
Pedigree
Diagnosis & molecular findings
| Disease | Gene | Allele 1 variant(s) | Allele 2 variant(s) | Inheritance mode |
|---|---|---|---|---|
| Cohen Syndrome | VPS13B | Deletion Exon 8 | Deletion Exon 8 | AR |
Disease:
Gene:
Allele 1:
Deletion Exon 8
Allele 2:
Deletion Exon 8
Inheritance:
AR