GenTIGS

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
351	Microcephaly 17, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	CIT citron rho-interacting serine/threonine kinase	Reports Updated as of Feb 10, 2026	PubMed
352	Microcephaly 5, primary, autosomal recessive Autosomal recessive	Neurodevelopmental disorders	ASPM assembly factor for spindle microtubules	Reports Updated as of Feb 01, 2025	PubMed
353	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
354	Microcephaly, normal intelligence and immunodeficiency Autosomal recessive	Immune disorders	NBN nibrin	Reports Updated as of Feb 26, 2025	PubMed
355	Miller syndrome Autosomal recessive	Bone disorders	DHODH dihydroorotate dehydrogenase (quinone)	Reports Updated as of Jan 04, 2024	PubMed
356	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
357	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
358	Monomelic amyotrophy	Neuromuscular disorders	SLIT1 slit guidance ligand 1	Reports Updated as of Feb 01, 2024	PubMed
359	Morning glory disc anomaly Autosomal dominant	Eye disorders	PAX6 paired box 6	Reports Updated as of Jan 04, 2024	PubMed
360	Mosaic variegated aneuploidy syndrome 2 Autosomal recessive	Multisystemic disorders	CEP57 centrosomal protein 57	Reports Updated as of Feb 01, 2024	PubMed

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