251300.3.1

Country

Morocco

HPO Terms

Death in childhood; Microcephaly; Intellectual disability; Seizure; Hypotonia; Cerebellar atrophy; Proteinuria; Focal segmental glomerulosclerosis; Abnormal facial shape; hypoplasia of the corpus callosum

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_032856.3:c.129T>G	2		Galloway-Mowat Syndrome 1

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References

Colin et al, 2014

Related Subjects

Subject Id	Country	HPO Terms	Sex	Parental Consanguinity	Remarks
251300.3.2	Morocco	Microcephaly; Intellectual disability; Seizure; Hypotonia; Cerebellar atrophy; Brain atrophy; Optic atrophy; Abnormal facial shape	Male	Yes	Sibling of 251300.3.1
251300.3.3	Morocco		Male		Father of 251300.3.1
251300.3.4	Morocco		Female		Mother of 251300.3.1