HADHB

hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit beta
OMIM: 143450
PanelMode of inheritanceDetails
5 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency, OMIM:609015
R-numbers: R135
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency (LCHADD), Trifunctional protein deficiency 609015, Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Liver disease, hypotonia, hypoketotic hypoglycaemia, neuropathy, lactic acidosis, retinopathy, hypoparathyroidism, Mitochondrial Trifunctional Protein deficiency, HCM
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency, OMIM:609015, Mitochondrial trifunctional protein deficiency, MONDO:0012172
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial trifunctional protein deficiency (Disorders of mitochondrial fatty acid oxidation), Trifunctional protein deficiency 609015
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Trifunctional protein deficiency 609015