Search Ontology:
Human Disease
Siddiqi syndrome
- Term ID
- DOID:0081273
- Synonyms
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- 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 )
- is a type of
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