600118.2

Country

Morocco

HPO Terms

Secondary microcephaly; Severe global developmental delay; Axial hypotonia; Cerebral palsy; Microphthalmia
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Sex

Unknown

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_001172435.2:c.475_478del2

Remarks

Proband from a large affected kindred
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