Human genes for D-bifunctional protein deficiency
D-bifunctional protein deficiency [DOID:0090031]
A peroxisomal disease characterized by, in severe cases, infantile-onset of hypotonia, seizures, and abnormal facial features with most dieing before age 2 years that has_material_basis_in homozygous or compound heterozygous mutation in the HSD17B4 gene on chromosome 5q2.
Synonyms: D-bifunctional protein deficiency, Dbifunctional protein deficiency, D-bifunctional protein deficiencies, DOID:0090031