Disease-gene associations mined from literature

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