619844.G.1

Saudi Arabia

Intellectual disability; Hypotonia; Unsteady gait; Abnormal globus pallidus morphology

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001161.5:c.34C>T	4		Intellectual Developmental Disorder with or without Peripheral Neuropathy

Two sisters

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619844.G.2	Saudi Arabia	Hypotonia; Intellectual disability, borderline; Motor delay; Delayed speech and language development; Poor suck; Small for gestational age			Yes	Five patients (three males; two females) from three unrelated families.