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
401	Microcephaly 17, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	CIT citron rho-interacting serine/threonine kinase	Reports Updated as of Feb 10, 2026	PubMed
402	Microcephaly 5, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	ASPM assembly factor for spindle microtubules	Reports Updated as of Feb 01, 2025	PubMed
403	Microcephaly 8, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	CEP135 centrosomal protein 135	Reports Updated as of Aug 17, 2026	PubMed
404	Microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability Autosomal dominant	Multisystemic disorders	KIF11 kinesin family member 11	Reports Updated as of Jan 05, 2026	PubMed
405	Microcephaly, normal intelligence and immunodeficiency Autosomal recessive	Immune disorders	NBN nibrin	Reports Updated as of Feb 26, 2025	PubMed
406	Miller syndrome Autosomal recessive	Bone disorders	DHODH dihydroorotate dehydrogenase (quinone)	Reports Updated as of Jan 04, 2024	PubMed
407	Mitochondrial DNA depletion syndrome 13 Autosomal recessive	Metabolic disorders	FBXL4 F-box and leucine rich repeat protein 4	Reports Updated as of Mar 30, 2026	PubMed
408	Mitochondrial DNA depletion syndrome 6 (hepatocerebral type) Autosomal recessive	Metabolic disorders	MPV17 mitochondrial inner membrane protein MPV17	Reports Updated as of Jul 20, 2024	PubMed
409	MOGS-congenital disorder of glycosylation Autosomal recessive	Metabolic disorders	MOGS mannosyl-oligosaccharide glucosidase	Reports Updated as of Aug 17, 2026	PubMed
410	Monomelic amyotrophy	Neuromuscular disorders	SLIT1 slit guidance ligand 1	Reports Updated as of Feb 01, 2024	PubMed

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