620791.1

Country

Syria

HPO Terms

Intellectual disability, moderate; Hypotonia; Microcephaly; Short stature
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_024899.4:c.302T>C

Remarks

Authors classified this gene variant as a "moderately confident" novel candidate for neurodevelopmental disorders.
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