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Chromosome 6pter-p24 deletion syndrome
rareDistal monosomy 6p is responsible for a distinct chromosome deletion syndrome with a recognizable clinical picture including intellectual deficit, ocular abnormalities, hearing loss, and facial dysmorphism.
- Identifiers
- MONDO:0012948 OMIM:612582Orphanet:96125
- Part of
- IridogoniodysgenesisMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial deletion of the short arm of chromosome 6
- Also known as
- 6p subtelomeric deletion syndrome · 6p25 microdeletion syndrome · chromosome 6pter-p24 deletion syndrome, isolated cases · distal deletion 6p · distal monosomy type 6p
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