EPSILON-TRIMETHYLLYSINE HYDROXYLASE DEFICIENCY

General Information (adopted from Orphanet):

Synonyms, Signs: TMLHED
AUTISM, SUSCEPTIBILITY TO, X-LINKED 6
AUTSX6
Number of Symptoms 3
OrphanetNr:
OMIM Id: 300872
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: No data available.

Symptom Information: Sort by abundance 

1
(HPO:0001250) Seizures rare [HPO:skoehler] 1245 / 7739
2
(HPO:0001249) Intellectual disability 1089 / 7739
3
(HPO:0000717) Autism 108 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Autism, the prototypic pervasive developmental disorder (PDD), is usually apparent by 3 years of age. It is characterized by a triad of limited or absent verbal communication, a lack of reciprocal social interaction or responsiveness, and restricted, stereotypical, ...
Clinical Description OMIM Celestino-Soper et al. (2012) found that the cognitive function of TMLHE-deficient males with autism varies widely, with a full-scale IQ ranging from 38 to 143. Five of 21 with available data were in the range of intellectual disability, ...
Molecular genetics OMIM In a single patient with autism, Celestino-Soper et al. (2011) identified deletion of exon 2 of the TMLHE gene (300777.0001), which encodes the first enzyme in the biosynthesis of carnitine. This deletion was also identified in the patient's ...