616900.3

Country

Egypt

HPO Terms

Profound global developmental delay; Areflexia; Severe muscular hypotonia; Optic atrophy; Esotropia; Hypoventilation; Nasogastric tube feeding; Right aortic arch; Missing ribs; Turricephaly; Hypertrichosis

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Sex

Male

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001163435.3:c.1532G>A	2		Hypotonia, Infantile, with Psychomotor Retardation and Characteristic Facies 3

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Remarks

Proband had a similarly affected sister who was deceased.

References

Chong et al. 2016