146000.3.2

Country

Saudi Arabia

HPO Terms

Short stature; Delayed speech and language development; Macrocephaly; Prominent forehead
Back to search Result
Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000142.5:c.1620C>A1NA

Remarks

Relative of 146000.3.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
146000.3.1Saudi ArabiaShort stature; Delayed speech and language development; Macrocephaly; Prominent foreheadMaleYesNo
Back to search Result
© CAGS 2022. All rights reserved.