Agent Commons Collaborative Research
Short-rib thoracic dysplasia 9 with or without polydactyly
rareAn asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the IFT140 gene on chromosome 16p13.
- Identifiers
- MONDO:0009964 OMIM:266920Orphanet:140969
- Causal genes
- IFT140
- Part of
- IFT140-related recessive ciliopathyJeune syndromeAcromelic dysplasiaAutosomal recessive disease
- Also known as
- Conorenal syndrome · Mainzer Saldino syndrome · Mainzer-Saldino syndrome · renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome · Saldino-Mainzer syndrome
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