312750.12

Country

Lebanon

HPO Terms

Microcephaly; Autism; Delayed speech and language development; Intellectual disability; Ataxia; Global developmental delay; Motor delay; Hypoplasia of the corpus callosum; Developmental regression; Childhood onset; Stereotypical hand wringing; Recurrent hand flapping

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_004992.3:c.473C>T1
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