619099.1.1

Country

Syria

HPO Terms

Intellectual disability; Global developmental delay; Delayed speech and language development; Peripheral axonal neuropathy; Ataxia; Distal amyotrophy; Tremor; Scoliosis; Pectus excavatum

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_004713.6:c.2608C>T	2	NA	Intellectual Developmental Disorder with Speech Delay and Axonal Peripheral Neuropathy

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Remarks

Patient from 'family AUS1' in the publication

References

Martin et al. 2020

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
619099.1.2	Syria		Male			Father of 619099.1.1
619099.1.3	Syria		Female			Mother of 619099.1.1