615419.10.1

Egypt

Global developmental delay; Failure to thrive; High forehead; Hypotonia; Autistic behavior; Seizure

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

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615419.10.2	Egypt	Global developmental delay; Failure to thrive; Strabismus; Hypotonia; Autistic behavior; Seizure	Female	Yes	Yes	Sibling of 615419.10.1