RS749966973 TMEM147
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Associated Conditions
Poor speech
Severe intellectual disability
Motor delay
Abnormal facial shape
Absent speech
Neurodevelopmental disorder with facial dysmorphism
absent language
and pseudo-pelger-huet anomaly
Poor speech
Severe intellectual disability
Motor delay
Abnormal facial shape
Absent speech
Neurodevelopmental disorder with facial dysmorphism
absent language
Other Variants in TMEM147