246900.2.3

Country

Algeria

HPO Terms

Death in infancy; Axial hypotonia; Rigidity; Choreoathetosis; Cerebral cortical atrophy;
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000108.5:c.1444A>G2

Remarks

Brother of 246900.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
246900.2.1AlgeriaDeath in childhood; Axial hypotonia; Rigidity; Choreoathetosis; Cerebral cortical atrophyMaleYesYes
246900.2.2AlgeriaDeath in childhood; Axial hypotonia; Rigidity; Choreoathetosis; Cerebral cortical atrophy; Hypertrophic cardiomyopathyMaleYesYesBrother of 246900.2.1
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