614039.1

Country

Jordan

HPO Terms

Intellectual disability; Microcephaly; Cerebral palsy; Strabismus; Hydrocephalus
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Sex

Male

Family History

No

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_006086.4:c.136C>T1

Remarks

de novo mutation

References

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