RGDs registry under the 'Multisystemic disorders'
| S.No. | Genetic Disorders | Aliases | Sub-Category | Gene symbol | Links | Indian context |
| 1 | Hypoparathyroidism, deafness, renal disease syndrome |
•Barakat syndrome •Hypoparathyroidism-sensorineural deafness-renal disease syndrome |
GATA3 GATA binding protein 3 |
PubMed | Reports | |
| 2 | Alstrom syndrome |
•Alström Syndrome •Alstrom's syndrome |
ALMS1 ALMS1 centrosome and basal body associated protein |
PubMed | Reports | |
| 3 | Mosaic variegated aneuploidy syndrome 2 |
•Mosaic variegated aneuploidy syndrome |
CEP57 centrosomal protein 57 |
PubMed | Reports | |
| 4 | Aicardi-Goutieres syndrome 6 |
•Aicardi-Goutières syndrome •Encephalopathy with basal ganglia calcification •Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid •Pseudo-Torch syndrome •Aicardi-Toutieres syndrome •Type 6Aicardi-Goutieres syndrome 1 |
ADAR adenosine deaminase RNA specific |
PubMed | Reports | |
| 5 | Aicardi-Goutieres syndrome 4 |
•Aicardi-Goutières syndrome •Encephalopathy with basal ganglia calcification •Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid •Pseudo-Torch syndrome •Aicardi-Toutieres syndrome |
RNASEH2A ribonuclease H2 subunit A |
PubMed | Reports |
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