618142.1.2

Country

United Arab Emirates

HPO Terms

Ventilator dependence with inability to wean; Seizure; Bronchomalacia; Agenesis of corpus callosum; Lissencephaly; Hyperreflexia; Strabismus; Camptodactyly; Limitation of joint mobility; Hypertelorism; Microretrognathia; Depressed nasal bridge; Hypotonia

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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_001012759.2:c.873G>A	2		Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome

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Remarks

Double first cousin of 618142.1.1

References

Shaheen et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
618142.1.1	United Arab Emirates	Congestive heart failure; Seizure; Microcephaly; Hypotonia; Micrognathia; Depressed nasal bridge; Micropenis; Hydrocele testis; Abnormality of the kidney; Polydactyly; Clinodactyly; Lissencephaly; Pachygyria; Dysplastic corpus callosum	Male	Yes	Yes	The proband had an older sister with microcephaly who died at 2 years of age with no documented diagnosis.