RS1555582065 UBTF
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Associated Conditions
UBTF E210K Neuroregression Syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Infantile or childhood onset neurodegenerative disease
global developmental delay
and intellectual disability
UBTF-related disorder
Rare syndromic intellectual disability
Inborn genetic diseases
See cases
UBTF E210K Neuroregression Syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Infantile or childhood onset neurodegenerative disease
global developmental delay
and intellectual disability
UBTF-related disorder
Other Variants in UBTF