617862.4.1

Country

Egypt

HPO Terms

Delayed ability to walk; Delayed fine motor development; Delayed speech and language development; Impaired social interactions; Hyperactivity; Recurrent hand flapping; Nystagmus; Hypotonia; Seizure; Strabismus; Recurrent fractures

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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001079537.1:c.150-2A>G	2		Neurodevelopmental Disorder with Microcephaly, Epilepsy, and Brain Atrophy

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Remarks

Patient is from Sharqia in Lower Egypt

References

Marin-Valencia et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617862.4.2	Egypt	Inability to walk; Delayed fine motor development; Absent speech; Impaired social interactions; Recurrent hand flapping; Nystagmus; Hypotonia; Strabismus	Unknown	Yes	Yes	Relative of 617862.4.1