Agent Commons Collaborative Research
Short-rib thoracic dysplasia 13 with or without polydactyly
rareAn asphyxiating thoracic dystrophy that has material basis in homozygous mutation in the CEP120 gene on chromosome 5q23.
- Identifiers
- MONDO:0014577 OMIM:616300
- Causal genes
- CEP120
- Part of
- Jeune syndrome
- Also known as
- SRTD13
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