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
371	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome Autosomal recessive	Neurodegenerative disorders	DARS2 aspartyl-tRNA synthetase 2, mitochondrial	Reports Updated as of Jan 05, 2026	PubMed
372	Leukoencephalopathy, developmental delay, and episodic neurologic regression syndrome Autosomal dominant	Neurodevelopmental disorders	EIF2AK2 eukaryotic translation initiation factor 2 alpha kinase 2	Reports Updated as of Aug 17, 2026	PubMed
373	Linear nevus sebaceus syndrome Somatic mosaicism	Skin disorders	KRAS KRAS proto-oncogene, GTPase	Reports Updated as of Jan 04, 2024	PubMed
374	Lipid proteinosis Autosomal recessive	Metabolic disorders	ECM1 extracellular matrix protein 1	Reports Updated as of Feb 01, 2024	PubMed
375	Lipomatosis, multiple symmetric Autosomal dominant, Autosomal recessive, MT inheritance	Skin disorders	MFN2 mitofusin 2	Reports Updated as of Jan 04, 2024	PubMed
376	Lissencephaly 7 with cerebellar hypoplasia Autosomal recessive	Neurodevelopmental disorders	CDK5 cyclin dependent kinase 5	Reports Updated as of Aug 17, 2026	PubMed
377	Lowe syndrome X-linked dominant	Metabolic disorders	OCRL OCRL inositol polyphosphate-5-phosphatase	Reports Updated as of Sep 05, 2023	PubMed
378	Lysinuric protein intolerance Autosomal recessive	Metabolic disorders	SLC7A7 solute carrier family 7 member 7	Reports Updated as of Feb 01, 2024	PubMed
379	Macular corneal dystrophy Autosomal recessive	Eye disorders	CHST6 carbohydrate sulfotransferase 6	Reports Updated as of Feb 01, 2024	PubMed
380	Majeed syndrome Autosomal recessive	Bone disorders	LPIN2 lipin 2	Reports Updated as of Feb 01, 2024	PubMed

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