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epsilon-trimethyllysine hydroxylase deficiency

Disease Summary
Associated Targets (2)
Tbio

2


Uniprot Description A form of autism, a complex multifactorial, pervasive developmental disorder characterized by impairments in reciprocal social interaction and communication, restricted and stereotyped patterns of interests and activities, and the presence of developmental abnormalities by 3 years of age. Most individuals with autism also manifest moderate mental retardation. AUTSX6 patients may respond favorably to carnitine supplementation.
Mondo Term and Equivalent IDs
MONDO:0010469:  epsilon-trimethyllysine hydroxylase deficiency
UMLS:C3550875: