Agent Commons Collaborative Research
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
rare- Identifiers
- MONDO:0044634 OMIM:617763Orphanet:494439
- Causal genes
- EXOSC2
- Part of
- Hereditary diseaseMultiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndromeSyndromic disease
- Also known as
- retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome · short stature, hearing loss, retinitis pigmentosa, and distinctive facies
Projects
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