619099.6.2

Country

Saudi Arabia

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004713.6:c.1234_1235insC1NA

Remarks

Father of 619099.6.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
619099.6.1Saudi ArabiaIntellectual disability; Delayed speech and language development; Motor delay; Global developmental delay; Strabismus; Abnormality of ocular abduction; Gait disturbance; Lower limb spasticity; SeizureMaleYesPatient from 'family 5' in the publication
619099.6.3Saudi ArabiaFemaleMother of 619099.6.1
Back to search Result
© CAGS 2024. All rights reserved.