300868.1

Country

Egypt

HPO Terms

Intellectual disability, severe; Seizure; Microcephaly; Spasticity; Abnormality of the face; Gingival overgrowth; Nystagmus; Scaphocephaly; Schizencephaly; Leukodystrophy; Basal ganglia calcification

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Sex

Male

Family History

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_002641.4:c.1261G>C			Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2

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References

Reuter et al. 2017