619099.2.1

Saudi Arabia

Intellectual disability; Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder; Seizure

Male

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004713.6:c.2871_2875dup	2	NA	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

Patient from 'family SAU1' in the publication

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619099.2.2	Saudi Arabia	Intellectual disability; Global developmental delay; Delayed speech and language development; Attention deficit hyperactivity disorder	Male	Yes	Yes	Brother of 619099.2.1
619099.2.G	Saudi Arabia					Unaffected relatives of 619099.2.1 (parents + one brother).