D-bifunctional protein deficiency

Term ID

DOID:0090031

Synonyms

Definition

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. (2)

References

• GARD:4539
• ICD10CM:E71.3
• OMIM:261515
• ORDO:300

Ontology

Human Disease   ( DOID:0090031 )