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
361	Lateral meningocele syndrome Autosomal dominant	Neurodevelopmental disorders	NOTCH3 notch receptor 3	Reports Updated as of Feb 01, 2024	PubMed
362	Lathosterolosis Autosomal recessive	Metabolic disorders	SC5D sterol-C5-desaturase	Reports Updated as of Feb 01, 2024	PubMed
363	Laurence-Moon syndrome Autosomal recessive	Eye disorders	PNPLA6 patatin like phospholipase domain containing 6	Reports Updated as of May 24, 2023	PubMed
364	LCAT deficiency Autosomal recessive	Metabolic disorders	LCAT lecithin-cholesterol acyltransferase	Reports Updated as of Dec 07, 2023	PubMed
365	Leprechaunism syndrome Autosomal recessive	Endocrine disorders	INSR insulin receptor	Reports Updated as of Feb 01, 2024	PubMed
366	Lesch-Nyhan syndrome X-linked dominant	Metabolic disorders	HPRT1 hypoxanthine phosphoribosyltransferase 1	Reports Updated as of Feb 20, 2024	PubMed
367	Lethal congenital contracture syndrome 9 Autosomal recessive	Neuromuscular disorders	ADGRG6 adhesion G protein-coupled receptor G6	Reports Updated as of Feb 01, 2025	PubMed
368	Lethal osteosclerotic bone dysplasia Autosomal recessive	Bone disorders	FAM20C FAM20C golgi associated secretory pathway kinase	Reports Updated as of Sep 15, 2022	PubMed
369	Leukodystrophy, hypomyelinating, 17 Autosomal recessive	Neurodegenerative disorders	AIMP2 aminoacyl tRNA synthetase complex interacting multifunctional protein 2	Reports Updated as of Aug 17, 2026	PubMed
370	Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Autosomal recessive	Neurodegenerative disorders	POLR3A RNA polymerase III subunit A	Reports Updated as of Aug 17, 2026	PubMed

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