DHTKD1 - Gene browser

DHTKD1

dehydrogenase E1 and transketolase domain containing 1

HCNC Approved Symbol: DHTKD1 (HGNC:23537)
Genomic Coordinates: 10:12,068,954 - 12,123,221 (10p14)
Synonyms: KIAA1630, MGC3090, DKFZP762M115, CMT2Q, OADC-E1, OADH-E1, E1a
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

3Patients

In total, 3 patients were diagnosed with a variant in the DHTKD1 gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

03
Patient count

Distal muscle weakness: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Achilles tendon shortening: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Cubitus valgus: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
High myopia: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)
Madelung deformity: 1 (33.3%)
Patient Count: 1 (33.3%)
% of total patients presenting each phenotype is shown in parentheses.
1 (33.3%)