615419.11

Egypt

Psychomotor retardation; Severe; Failure to thrive; Seizure; Autistic behavior; Death in childhood

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.2758del	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1

Had a similarly affected deceased cousin