Siddiqi syndrome (DOID:0081273)
Alliance: disease page
Alt IDs: OMIM:618635
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.