618065.2.1

Country

United Arab Emirates

HPO Terms

Global developmental delay; Hand clenching; Hypotonia; Nystagmus; Deep palmar crease; Hypoasparaginemia; Hypocystinemia; Cerebellar atrophy; Cerebellar vermis atrophy; Hyperintensity of cerebral white matter on MRI; Brachycephaly; Esodeviation; Posteriorly rotated ears; High palate

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_005033.3:c.41T>C	2		Pontocerebellar Hypoplasia, Type 1D

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Remarks

The patient had 2 first cousins once removed with psychomotor and speech delay

References

Bizzari et al. 2020

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618065.2.2	United Arab Emirates		Male			Father of 618065.2.1
618065.2.3	United Arab Emirates		Female			Mother of 618065.2.1