HSD17B4

hydroxysteroid 17-beta dehydrogenase 4
OMIM: 601860
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-BIFUNCTIONAL PROTEIN DEFICIENCY 261515, PERRAULT SYNDROME
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-BIFUNCTIONAL PROTEIN DEFICIENCY, PERRAULT SYNDROME
R-numbers: R59
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-bifunctional protein deficiency, 261515
Green
in Hearing loss
R-numbers: R67
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hearing loss, D-bifunctional protein deficiency, 261515, Perrault syndrome 1, 233400
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
D-bifunctional protein deficiency, 261515, Peroxisomal D-bifunctional protein deficiency (Disorders of peroxisomal alpha-, beta and omega-oxidation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PERRAULT SYNDROME
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peroxisome-Associated Disorders & Zellweger Syndrome, General Leukodystrophy & Mitochondrial Leukoencephalopathy, D-bifunctional protein deficiency