GenTIGS

List of monogenic disorders and their associated genes(Heterogeneity and Homogeneity)
Monogenic disorders arise from mutations in a single gene, but variations within that gene or in any one across of 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
251	Fragile X syndrome X-linked recessive	Neurodevelopmental disorders	FMR1 fragile X messenger ribonucleoprotein 1	Reports Updated as of Sep 05, 2023	PubMed
252	Frasier syndrome Autosomal dominant	Multisystemic disorders	WT1 WT1 transcription factor	Reports Updated as of Feb 10, 2026	PubMed
253	FRAXE X-linked recessive	Neurodevelopmental disorders	AFF2 ALF transcription elongation factor 2	Reports Updated as of Mar 30, 2026	PubMed
254	Freeman-Sheldon syndrome Autosomal dominant, Autosomal recessive	Neuromuscular disorders	MYH3 myosin heavy chain 3	Reports Updated as of Aug 17, 2026	PubMed
255	Friedreich ataxia Autosomal recessive	Neurodegenerative disorders	FXN frataxin	Reports Updated as of Sep 05, 2023	PubMed
256	Fructose-biphosphatase deficiency Autosomal recessive	Metabolic disorders	FBP1 fructose-bisphosphatase 1	Reports Updated as of Mar 30, 2026	PubMed
257	Fumarase deficiency Autosomal recessive	Metabolic disorders	FH fumarate hydratase	Reports Updated as of Feb 20, 2024	PubMed
258	Gabriele de Vries syndrome Autosomal dominant	Neurodevelopmental disorders	YY1 YY1 transcription factor	Reports Updated as of Feb 10, 2026	PubMed
259	Galactose epimerase deficiency Autosomal recessive	Metabolic disorders	GALE UDP-galactose-4-epimerase	Reports Updated as of Sep 05, 2023	PubMed
260	GAPO syndrome Autosomal recessive	Developmental / Multisystemic disorders	ANTXR1 ANTXR cell adhesion molecule 1	Reports Updated as of Dec 07, 2023	PubMed

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