Disease #02664

Official abbreviation THMD-2
Name thiamine metabolism dysfunction syndrome, type 2 (THMD-2, basal ganglia disease, biotin-responsive)
OMIM ID 607483
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SLC19A3
Associated tissues -
Disease features autosomal recessive
Remarks -


Individuals

1 entry on 1 page. Showing entry 1.
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00080954 - Trujillano et al., submitted unaffected parents - - - - - 0 - - THMD-2 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (OMIM:607483) SLC19A3 SLC19A3 1 1 Daniel Trujillano
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