617090.6

Country

United Arab Emirates

HPO Terms

Microcephaly; Microlissencephaly; Agenesis of corpus callosum; Cerebellar hypoplasia; Hypoplasia of the brainstem; Abnormal cerebral ventricle morphology; Abnormal facial shape; Neonatal death

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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_001206999.2:c.29_38del	2	NA	Microcephaly 17, Primary, Autosomal Recessive

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Remarks

'Proband B' in the publication. This patient had a similarly affected sister.

References

Harding et al. 2016

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
617090.1	United Arab Emirates	Sloping forehead; Micrognathia; Open mouth; Hand clenching; Arthrogryposis multiplex congenita ; Generalized ichthyosis; Short neck; Renal agenesis	Female	Yes	Yes
617090.2	United Arab Emirates	Lissencephaly; Abnormality of neuronal migration; Sloping forehead; Proptosis; Prominent nasal tip; Macrotia; Thick vermilion border	Female	No	Yes
617090.5	United Arab Emirates	Microcephaly; Microlissencephaly; Agenesis of corpus callosum; Cerebellar hypoplasia; Hypoplasia of the brainstem; Hyperintensity of cerebral white matter on MRI; Limb hypertonia; Axial hypotonia; Hyperreflexia; Spastic tetraplegia; Global developmental delay; Abnormal facial shape	Male	Yes	Yes	'Proband A' in the publication. This patient had a similarly affected brother.