Term Name:	Siddiqi syndrome
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.
Ontology:	Human Disease [DOID:0081273]   ( DOID:0081273 )