616900.1.1

Saudi Arabia

Global developmental delay; Seizure; Abnormal facial shape; Hypotonia; Ventricular septal defect; Death in childhood

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001163435.3:c.1897+1G>A	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

Proband also had 4 male double first cousins with a similar presentation who were not tested for the mutation.

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616900.1.2	Saudi Arabia	Global developmental delay; Seizure; Abnormal facial shape; Hypotonia; Ventricular septal defect	Female	Yes	Yes	Sister of 616900.1.1