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
311	L-2-hydroxyglutaric aciduria Autosomal recessive	Metabolic disorders	L2HGDH L-2-hydroxyglutarate dehydrogenase	Reports Updated as of Jan 05, 2026	PubMed
312	Lacrimoauriculodentodigital syndrome Autosomal dominant	Oral disorders	FGF10 fibroblast growth factor 10	Reports Updated as of Feb 01, 2024	PubMed
313	LAMA2-related muscular dystrophy Autosomal recessive	Neuromuscular disorders	LAMA2 laminin subunit alpha 2	Reports Updated as of Feb 26, 2025	PubMed
314	Langer mesomelic dysplasia syndrome Autosomal recessive	Bone disorders	SHOX SHOX homeobox	Reports Updated as of Feb 01, 2024	PubMed
315	Laron-type isolated somatotropin defect Autosomal recessive	Endocrine disorders	GHR growth hormone receptor	Reports Updated as of Sep 08, 2025	PubMed
316	Laryngo-onycho-cutaneous syndrome Autosomal recessive	Skin disorders	LAMA3 laminin subunit alpha 3	Reports Updated as of Jun 12, 2025	PubMed
317	Lateral meningocele syndrome Autosomal dominant	Neurodevelopmental disorders	NOTCH3 notch receptor 3	Reports Updated as of Feb 01, 2024	PubMed
318	Lathosterolosis Autosomal recessive	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
319	Laurence-Moon syndrome Autosomal recessive	Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
320	LCAT deficiency Autosomal recessive	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed

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