218340.G.2

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Country

Syria

HPO Terms

Intellectual disability, severe; Hypotonia; Bruxism; Abnormal facial shape; Visual impairment; Microphthalmia; Nystagmus; Cerebral atrophy; Leukodystrophy
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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant NameAllele CountAllele FrequencyAssociated DiseaseAssociated Gene
NM_138425.4:c.1A>G2
NM_000071.3:c.341C>T2
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Remarks

2 members of a family

References

© CAGS 2024. All rights reserved.
© CAGS 2024. All rights reserved.