617560.6.2

Country

United Arab Emirates

HPO Terms

Abnormal facial shape; Flexion contracture; Scoliosis; Global developmental delay; Developmental regression; Hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia; Strabismus; Abnormal cerebral white matter morphology; Abnormal myelination; Leukodystrophy; Aplasia/Hypoplasia of the corpus callosum; Brain atrophy

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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_177400.3:c.608G>A	2		Spastic Ataxia 8, Autosomal Recessive, with Hypomyelinating Leukodystrophy

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Remarks

Twin sister of 617560.6.1

References

Baldi et al. 2018

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617560.6.1	United Arab Emirates	Abnormal facial shape; Flexion contracture; Scoliosis; Global developmental delay; Developmental regression; Hypotonia; Horizontal nystagmus; Generalized hyperreflexia; Spastic tetraplegia; Strabismus; Abnormal cerebral white matter morphology; Abnormal myelination; Leukodystrophy; Aplasia/Hypoplasia of the corpus callosum; Brain atrophy	Female	Yes	Yes	Proband from 'family 6' in the publication. She had an affected brother (now deceased)