RGDs registry under the 'Developmental / Multisystemic disorders'
S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
1 | Johanson-Blizzard syndrome |
UBR1 ubiquitin protein ligase E3 component n-recognin 1 |
PubMed | Reports | ||
2 | Rhizomelic chondrodysplasia punctata |
AGPS alkylglycerone phosphate synthase GNPAT glyceronephosphate O-acyltransferase PEX7 peroxisomal biogenesis factor 7 PEX5 peroxisomal biogenesis factor 5 |
PubMed | Reports | ||
3 | GAPO syndrome |
•Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome |
ANTXR1 ANTXR cell adhesion molecule 1 |
PubMed | Reports |
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