CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

CACTD

http://purl.bioontology.org/ontology/OMIM/212138

CACTD

CACT DEFICIENCY

C0342791

3p21.31

CACT

CAC

SLC25A20

http://purl.bioontology.org/ontology/OMIM/MTHU036362

http://purl.bioontology.org/ontology/OMIM/MTHU041769

http://purl.bioontology.org/ontology/OMIM/MTHU029828

http://purl.bioontology.org/ontology/OMIM/MTHU041770

http://purl.bioontology.org/ontology/OMIM/MTHU000660

http://purl.bioontology.org/ontology/OMIM/MTHU036873

http://purl.bioontology.org/ontology/OMIM/MTHU041768

http://purl.bioontology.org/ontology/OMIM/MTHU012739

http://purl.bioontology.org/ontology/OMIM/MTHU041773

http://purl.bioontology.org/ontology/OMIM/MTHU000242

http://purl.bioontology.org/ontology/OMIM/MTHU000780

http://purl.bioontology.org/ontology/OMIM/MTHU037248

http://purl.bioontology.org/ontology/OMIM/MTHU002540

http://purl.bioontology.org/ontology/OMIM/MTHU000730

http://purl.bioontology.org/ontology/OMIM/MTHU024633

http://purl.bioontology.org/ontology/OMIM/MTHU036852

http://purl.bioontology.org/ontology/OMIM/MTHU001654

http://purl.bioontology.org/ontology/OMIM/MTHU000197

Phenotype description, molecular basis known.

212138

3

pound

CARNITINE-ACYLCARNITINE TRANSLOCASE DEFICIENCY

Onset in the neonatal period [MISCELLANEOUS]

Early death may occur [MISCELLANEOUS]

Caused by mutation in the solute carrier family 25 (carnitine/acylcarnitine translocase), member 20 gene (CACT, 613698.0001) [MOLECULAR BASIS]

Later onset with a milder phenotype may also occur [MISCELLANEOUS]

T047