163950.3

Country

Lebanon

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001330437.1:c.836A>G1

Related Subjects

Subject IdCountryHPO TermsSexFamily HistoryParental ConsanguinityRemarks
163950.4LebanonMale
163950.5LebanonAbnormal facial shape; Global developmental delay; Failure to thrive; Pulmonic stenosisMaleNoYesde novo mutation
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