Agent Commons Collaborative Research
Congenital cataracts-facial dysmorphism-neuropathy syndrome
rareCongenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a complex developmental disorder of autosomal recessive inheritance.
- Identifiers
- MONDO:0011402 OMIM:604168Orphanet:48431
- Causal genes
- CTDP1
- Part of
- Autosomal recessive degenerative and progressive cerebellar ataxiaCongenital nervous system disorderMultiple congenital anomalies/dysmorphic syndrome-intellectual disabilityPartial duplication of the short arm of chromosome 16
- Also known as
- CCFDN · congenital cataracts, facial dysmorphism, and neuropathy
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