Conditions / Genetic
Siddiqi syndrome
info · Genetic
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
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.
Signs and symptoms
- Delayed ability to walk
- Global developmental delay
- Motor delay
- Ichthyosis
- Sensorineural hearing impairment
- Pes cavus
- Flexion contracture
- Limb dystonia
- Developmental regression
- Lower limb amyotrophy