RS374259530 ADSL
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What This Variant Does
"CLNSIG=5
Associated Conditions
Adenylosuccinate lyase deficiency
Severe global developmental delay
Difficulty standing
Inability to walk
Generalized myoclonic seizure
Progressive neurologic deterioration
Inborn genetic diseases
ADSL-related disorder
Adenylosuccinate lyase deficiency
Severe global developmental delay
Difficulty standing
Inability to walk
Generalized myoclonic seizure
Progressive neurologic deterioration
Inborn genetic diseases
Other Variants in ADSL