RGDs registry under the 'Developmental / Multisystemic disorders'
| Disorder Name (Total=3) | Aliases | Sub-Category | Gene | Indian Reports | Link |
|---|---|---|---|---|---|
| Johanson-Blizzard syndrome Autosomal recessive |
- |
UBR1 ubiquitin protein ligase E3 component n-recognin 1 |
Reports Updated as of May 24, 2023 |
PubMed | |
| Rhizomelic chondrodysplasia punctata Autosomal recessive |
- |
AGPS alkylglycerone phosphate synthase GNPAT glyceronephosphate O-acyltransferase PEX7 peroxisomal biogenesis factor 7 PEX5 peroxisomal biogenesis factor 5 |
Reports Updated as of Sep 05, 2023 |
PubMed | |
| GAPO syndrome Autosomal recessive |
•Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome |
- |
ANTXR1 ANTXR cell adhesion molecule 1 |
Reports Updated as of Dec 07, 2023 |
PubMed |