/short-rib thoracic dysplasia 7 with or without polydactyly

short-rib thoracic dysplasia 7 with or without polydactyly

Rare Disease

MONDO:0013569

Also Known As

SRPS5SRTD7short rib-polydactyly syndrome type 5short rib-polydactyly syndrome type Vshort rib-polydactyly syndrome, type 5short-rib thoracic dysplasia 7 with or without polydactyly

Definition

An asphyxiating thoracic dystrophy that has material basis in homozygous or compound heterozygous mutation in the WDR35 gene on chromosome 2p21.1.

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Associated Genes

WDR35 ↗

Gene data from MyGene.info • Click to view on NCBI Gene

External Resources

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short-rib thoracic dysplasia 7 with or without polydactyly

Also Known As

Definition

Patient-Friendly Information

Associated Genes

External Resources

OMIM

Orphanet

GARD

Related Diseases