603063.1.2

Country

Syria

HPO Terms

Intellectual disability, severe; Seizure; Hypotonia; Limb hypertonia; Spasticity; Short stature; Microcephaly; Leukodystrophy
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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_203314.3:c.668G>A2

Remarks

Relative of 603063.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
603063.1.1SyriaIntellectual disability, severe; Seizure; Hypotonia; Limb hypertonia; Spasticity; Short stature; Microcephaly; LeukodystrophyMaleYesYesAuthors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.
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