RS142500730 UFSP2
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Associated Conditions
Microcephaly
Intellectual disability
Seizure
Focal-onset seizure
Epileptic encephalopathy
Severe global developmental delay
Abnormality of the nervous system
UFSP2-related neurodevelopmental disorder
Olivopontocerebellar hypoplasia
Developmental and epileptic encephalopathy 106
Developmental and epileptic encephalopathy
1
Hip dysplasia
Beukes type
Microcephaly
Other Variants in UFSP2