Short Rib-Polydactyly Syndrome, Saldino-Noonan Type

Alias:

Short Rib-Polydactyly Syndrome Type 1

Favorite

Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Short Rib-Polydactyly Syndrome, Saldino-Noonan Type, also known as short rib-polydactyly syndrome type 1, is related to polydactyly and short rib-polydactyly syndrome. An important gene associated with Short Rib-Polydactyly Syndrome, Saldino-Noonan Type is DYNC2H1 (Dynein Cytoplasmic 2 Heavy Chain 1), and among its related pathways/superpathways are Organelle biogenesis and maintenance and Ciliary landscape. Affiliated tissues include bone and kidney.

Related ID：

MALACARDS：SHR137