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Human Disease

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
Ontology
Human Disease   ( DOID:0081273 )
Relationships
is a type of
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Genes Involved
Zebrafish Models