250950.2.2

Country

Morocco

HPO Terms

Delayed speech and language development; Organic aciduria;
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Sex

Male

Family History

Yes

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001698.2:c.589C>T 2

Remarks

Brother of 250950.2.1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
250950.2.1MoroccoGlobal developmental delay; Enuresis nocturna; Organic aciduria;MaleYesNo
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