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
211	LAMA2-related muscular dystrophy Autosomal recessive	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 26, 2025	PubMed
212	Langer mesomelic dysplasia syndrome Autosomal recessive	Bone disorders	SHOX SHOX homeobox	Reports Updated as of Feb 01, 2024	PubMed
213	Lateral meningocele syndrome Autosomal dominant	Neurodevelopmental disorders	NOTCH3 notch receptor 3	Reports Updated as of Feb 01, 2024	PubMed
214	Lathosterolosis Autosomal recessive	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
215	Laurence-Moon syndrome Autosomal recessive	Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
216	LCAT deficiency Autosomal recessive	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
217	Leprechaunism syndrome Autosomal recessive	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
218	Lesch-Nyhan syndrome X-linked dominant	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
219	Lethal congenital contracture syndrome 9 Autosomal recessive	Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
220	Lethal osteosclerotic bone dysplasia Autosomal recessive	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed

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