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D-Bifunctional Protein Deficiency

Go to external page http://purl.obolibrary.org/obo/NCIT_C119676

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. [ ]

Term info

Label

D-Bifunctional Protein Deficiency

Synonyms
  • D-Bifunctional Enzyme Deficiency
  • D-Bifunctional Protein Deficiency
  • Multifunctional Enzyme Deficiency
  • Peroxisomal Multifunctional Enzyme (MFE2) Deficiency
  • Peroxisomal Multifunctional Enzyme Deficiency
  • Pseudo-Zellweger Syndrome
Subsets

NCIT_C118168, NCIT_C116977

Display Name

D-Bifunctional Protein Deficiency

Preferred Name

D-Bifunctional Protein Deficiency

Semantic Type

Disease or Syndrome

UMLS CUI

C0342870

code

C119676