Online Mendelian Inheritance in Man

Last uploaded: January 31, 2024
Preferred Name

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Synonyms

GNMT DEFICIENCY

ID

http://purl.bioontology.org/ontology/OMIM/606664

altLabel

GNMT DEFICIENCY

cui

C1847720

Gene Locus

6p12

Gene Symbol

GNMT

Has manifestation

http://purl.bioontology.org/ontology/OMIM/MTHU000204

http://purl.bioontology.org/ontology/OMIM/MTHU036371

http://purl.bioontology.org/ontology/OMIM/MTHU003943

MIMTYPEMEANING

Phenotype description, molecular basis known.

notation

606664

OMIM Entry Type

3

OMIM MimType Value

pound

prefLabel

GLYCINE N-METHYLTRANSFERASE DEFICIENCY

Scope Statement

Caused by mutations in the glycine N-methyltransferase gene (GNMT, 606628.0001) [MOLECULAR BASIS]

tui

T047

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