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Cohen syndrome
rareCohen syndrome (CS) is a rare genetic developmental disorder characterized by microcephaly, characteristic facial features, hypotonia, non-progressive intellectual deficit, myopia and retinal dystrophy, neutropenia and truncal obesity.
- Identifiers
- MONDO:0008999 OMIM:216550Orphanet:193
- Causal genes
- VPS13B
- Part of
- Autosomal recessive syndromic intellectual disabilityCongenital nervous system disorderConstitutional neutropeniaMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- Chs1 · COH1 · cutis verticis gyrata, retinitis pigmentosa, and sensorineural deafness
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