615419.5

Tunisia

Poor suck; Feeding difficulties; Generalized non-motor (absence) seizure; Intellectual disability; Axial hypotonia; Limb dystonia; Growth delay

Female

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.3643C>T	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1