615419.8.1

Saudi Arabia

Neurodevelopmental delay; Generalized hypotonia; Dystonia; Microcephaly; Scoliosis; Encephalopathy

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001350748.2:c.321G>A	2		Hypotonia, Infantile, with Psychomotor Retardation and characteristic Facies 1

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
615419.8.2	Saudi Arabia	Generalized hypotonia; Failure to thrive;	Male	Yes	Yes	Sibling of 615419.8.1