3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

SCHAD DEFICIENCY, FORMERLY

http://purl.bioontology.org/ontology/OMIM/231530

SCHAD DEFICIENCY, FORMERLY

HADH DEFICIENCY

C1291230

4q22-q26

HADHSC

HHF4

SCHAD

http://purl.bioontology.org/ontology/OMIM/MTHU036870

http://purl.bioontology.org/ontology/OMIM/MTHU036522

http://purl.bioontology.org/ontology/OMIM/MTHU000370

http://purl.bioontology.org/ontology/OMIM/MTHU012736

http://purl.bioontology.org/ontology/OMIM/MTHU012745

http://purl.bioontology.org/ontology/OMIM/MTHU012741

http://purl.bioontology.org/ontology/OMIM/MTHU001720

http://purl.bioontology.org/ontology/OMIM/MTHU067605

http://purl.bioontology.org/ontology/OMIM/MTHU002080

http://purl.bioontology.org/ontology/OMIM/MTHU012735

http://purl.bioontology.org/ontology/OMIM/MTHU001330

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

http://purl.bioontology.org/ontology/OMIM/MTHU000371

http://purl.bioontology.org/ontology/OMIM/MTHU012740

http://purl.bioontology.org/ontology/OMIM/MTHU001652

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

Phenotype description, molecular basis known.

609609

231530

3

pound

3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY

Sudden infant death may occur [MISCELLANEOUS]

Caused by mutation in the L-3-hydroxyacyl-CoA dehydrogenase gene (HAD, 601609.0001). [MOLECULAR BASIS]

Highly variable phenotype [MISCELLANEOUS]

T047