Autosomal recessive, Digenic recessive
Monogenic disorders list based on single and multiple genes
| Disorder Name (Total=1) | Aliases | Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Short-rib thoracic dysplasia 6 with or without polydactyly |
• Majewski syndrome • Polydactyly with neonatal chondrodystrophy, type ii • Polydactyly with neonatal chondrodystrophy type 2 • Short rib-polydactyly syndrome, type iia • Short-rib thoracic dysplasia 6 with polydactyly • Short-rib thoracic dysplasia 6 without polydactyly |
Bone disorders |
NEK1 NIMA related kinase 1 WDR35 WD repeat domain 35 TTC21B tetratricopeptide repeat domain 21B TRAF3IP1 TRAF3 interacting protein 1 IFT172 intraflagellar transport 172 DYNC2LI1 dynein cytoplasmic 2 light intermediate chain 1 EVC2 EvC ciliary complex subunit 2 EVC EvC ciliary complex subunit 1 DYNC2H1 dynein cytoplasmic 2 heavy chain 1 FUZ fuzzy planar cell polarity protein |
Reports Updated as of Feb 26, 2025 |
PubMed |