616420.3

Country

Morocco

HPO Terms

Profound global developmental delay; Progressive microcephaly; Agenesis of corpus callosum; Cerebral hypomyelination; Hypotonia
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Sex

Male

Parental Consanguinity

No

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_013328.4:c.796C>T2
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