309500.2

Country

Egypt

HPO Terms

Hypoplasia of the corpus callosum; Hypoplasia of the pons; Round face; Hypertelorism; Wide nasal bridge; Bulbous nose; Full cheeks; Long philtrum; Thin vermilion border; Microphallus; Cryptorchidism

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Sex

Male

Family History

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001032382.2:c.209_210del	1		Renpenning Syndrome 1

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References

Shaheen et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
309500.1	Egypt	Intellectual disability	Male	Yes	No	Similarly affected brothers