neurodevelopmental disorder with hypotonia, epilepsy, and absent speech
A neurodevelopmental syndrome caused by a variation in the UNC13A gene, characterized by hypotonia, epilepsy, and absent speech.
MONDO:0100500
Mendelian neurodevelopmental disorder
is_a
UNC13A-related congenital neurodevelopmental disorder with epilepsy
exact
SPAC11E3.02c