619099.1.2

Country

Syria

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004713.6:c.2608C>T1NA

Remarks

Father of 619099.1.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619099.1.1SyriaIntellectual disability; Global developmental delay; Delayed speech and language development; Peripheral axonal neuropathy; Ataxia; Distal amyotrophy; Tremor; Scoliosis; Pectus excavatumMaleYesPatient from 'family AUS1' in the publication
619099.1.3SyriaFemaleMother of 619099.1.1
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