615419.4.2

Lebanon

Global developmental delay; Hypotonia; Absent speech;

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_052867.4:c.3056dupT	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1

Sibling of 615419.4.1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615419.4.1	Lebanon	Global developmental delay; Hypotonia;	Male	Yes	Yes	One sibling and two cousins similarly affected