List of monogenic disorders and their associated genes
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in multiple genes can also lead to similar phenotypes, typically following Mendelian inheritance patterns associated with specific genetic changes.
View information by inheritance mode
| S.No. | Genetic Disorders Modes of inheritance |
Category | Gene symbol | Indian context |
Links |
| 581 | X-linked lissencephaly with abnormal genitalia X-linked recessive |
Multisystemic disorders |
ARX aristaless related homeobox |
Reports Updated as of Nov 12, 2025 |
PubMed |
| 582 | X-linked lymphoproliferative disease due to SH2D1A deficiency X-linked recessive |
Immune disorders |
SH2D1A SH2 domain containing 1A |
Reports Updated as of Feb 10, 2026 |
PubMed |
| 583 | X-linked myopathy with excessive autophagy X-linked recessive |
Neuromuscular disorders |
VMA21 vacuolar ATPase assembly factor VMA21 |
Reports Updated as of Feb 01, 2025 |
PubMed |