619099.3.1

Egypt

Intellectual disability; Global developmental delay; Delayed speech and language development; Autistic behavior; EEG abnormality

Female

Yes

Yes

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004713.6:c.2517_2520del	2	NA	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619099.3.2	Egypt	Intellectual disability; Global developmental delay; Delayed speech and language development; Autistic behavior; EEG abnormality	Male	Yes	Yes	Brother of 619099.3.1