Disease_Mapped_To_Gene
HSD17B4 Gene
CTRP Terminology
CTRP Disease Terminology
D-Bifunctional Protein Deficiency
A rare, autosomal recessive inherited disorder caused by mutation in the HSD17B4 gene. It is characterized by neurodegeneration that begins in infancy, hypotonia, and seizures. The majority of the affected individuals lack developmental skills.
C0342870
C119676
CTRP
Cellosaurus
D-Bifunctional Enzyme Deficiency
D-Bifunctional Protein Deficiency
D-Bifunctional Protein Deficiency
D-Bifunctional Protein Deficiency
Disease or Syndrome
Multifunctional Enzyme Deficiency
Peroxisomal Multifunctional Enzyme (MFE2) Deficiency
Peroxisomal Multifunctional Enzyme Deficiency
Pseudo-Zellweger Syndrome
Cellosaurus Disease Terminology
Cellosaurus Terminology
Rare Non-Neoplastic Disorder