130000.1

Country

Lebanon

HPO Terms

Global developmental delay; Delayed speech and language development; Retrognathia; Seizure; Joint laxity; Scoliosis
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Sex

Unknown

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_000093.5:c.2654T>A1
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