619099.4.1

Country

Saudi Arabia

HPO Terms

Intellectual disability; Delayed speech and language development; Protruding ear; Joint hypermobility; Bilateral talipes equinovarus; Abnormal foot morphology

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Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004713.6:c.574+1G>T	2	NA	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

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Remarks

Patient from 'family 3' in the publication

References

Ahmed et al. 2021

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619099.4.2	Saudi Arabia		Male			Father of 619099.4.1
619099.4.3	Saudi Arabia		Female			Mother of 619099.4.1