Term Name:	D-bifunctional protein deficiency
Synonyms:
Definition:	A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dying before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
Ontology:	Human Disease [DOID:0090031]   ( DOID:0090031 )