616171.1.1

Country

Saudi Arabia

HPO Terms

Intrauterine growth retardation; Sloping forehead; Prominent nose; Proptosis; Prominent metopic ridge; Optic nerve hypoplasia; Strabismus; Short long bone; Microcephaly; Global developmental delay; Severe short stature; Micrognathia

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Sex

Female

Family History

Yes

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_014264.5:c.1299_1303del	2		Microcephaly And Chorioretinopathy, Autosomal Recessive, 2

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Remarks

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References

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616171.1.2	Saudi Arabia	Intrauterine growth retardation; Microcephaly; Global developmental delay; Severe short stature; Sloping forehead; Prominent nose; Proptosis; Micrognathia; Optic nerve hypoplasia; Strabismus	Male	Yes	Yes	Full brother of 616171.1.1
616171.1.3	Saudi Arabia	Intrauterine growth retardation; Microcephaly; Global developmental delay; Severe short stature; Sloping forehead; Prominent nose; Proptosis; Micrognathia; Optic nerve hypoplasia; Strabismus	Female	Yes	Yes	Paternal half-sister of 616171.1.1