618142.3

Country

Saudi Arabia

HPO Terms

Microcephaly; Lissencephaly; Diffuse white matter abnormalities ; Hypoplasia of the corpus callosum; Widened subarachnoid space ; Small posterior fossa; Abnormal facial shape; Abnormality of the skeletal system; Unilateral renal agenesis; Ambiguous genitalia; Micropenis

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Sex

Male

Family History

Yes

Parental Consanguinity

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_001012759.2:c.873G>A	2		Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

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References

Shaheen et al. 2019

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618142.4	Saudi Arabia	Microcephaly; Brachycephaly; Abnormal facial shape; Abnormal heart morphology; Ambiguous genitalia	Unknown	No	Yes