224050.G.1

Country

Oman; United Arab Emirates

HPO Terms

Intellectual disability, moderate; Infantile muscular hypotonia; Delayed ability to walk; Gait disturbance; Truncal ataxia; Absent speech; Strabismus; Aplasia of the inferior half of the cerebellar vermis; Cerebellar hypoplasia

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Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_003383.5:c.2117G>T	10		Cerebellar Ataxia, Mental Retardation, and Dysequilibrium Syndrome 1

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Remarks

Five patients from two Emirati families of Omani origin

References

Ali et al. 2012;
Saleh et al. 2021