Syndrome with truncal obesity, neutropenia, retinal dystrophy and microcephaly.
- Specialty
- Endocrinology
- Subspecialty
- Endocrinology / Pediatric endocrinology
- Sex & age distribution
- Male: affected; Female: affected equally; Children: yes, infancy
- Gene(s) involved
- VPS13B
- Alternative names & eponyms
- Pepper syndrome
Etiology & mechanism
VPS13B variants.
Gene(s) involved (1)
Symptoms & signs (9)
In plain terms, someone with Cohen syndrome may experience the following — click any to explore related syndromes:
Same gene(s)
Other syndromes that involve one of this syndrome's genes.
Overlapping symptoms
Other syndromes that share symptoms with this one.
Drag nodes, scroll to zoom, click a node to open that syndrome.
Shares symptoms with
3 shared
Cri du chat syndrome
hypotonia, intellectual disability, microcephaly
3 shared
Kleefstra syndrome
hypotonia, intellectual disability, microcephaly
2 shared
Allan–Herndon–Dudley syndrome
hypotonia, intellectual disability
2 shared
Cerebral folate deficiency syndrome
hypotonia, microcephaly
2 shared
Coffin–Siris syndrome
hypotonia, intellectual disability
2 shared
Crigler–Najjar syndrome
hypotonia, intellectual disability
2 shared
Down syndrome
hypotonia, intellectual disability
2 shared
Emanuel syndrome
hypotonia, microcephaly
2 shared
Fetal alcohol syndrome
intellectual disability, microcephaly
2 shared
Lowe syndrome
hypotonia, intellectual disability
Shares genes with
None.
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