Siddiqi syndrome

Term ID

DOID:0081273

Synonyms

Definition

A lipid storage disease that is characterized by global developmental delay, early-onset progressive sensorineural hearing impairment, regression of motor skills, dystonia, poor overall growth, and low body mass index and that has_material_basis_in homozygous or compound heterozygous mutation in the FITM2 gene on chromosome 20q13. (3)

References

• MIM:618635

Ontology

Human Disease   ( DOID:0081273 )