616721.1.1

Country

Lebanon

HPO Terms

Global developmental delay; Limb hypertonia; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Peripheral axonal neuropathy; Broad forehead; Hirsutism; Anteverted nares; Thin vermilion border; Smooth philtrum

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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_022154.5:c.338G>C	2		Congenital Disorder of Glycosylation, Type IIn

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Remarks

Proband

References

Riley et al, 2017

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
616721.1.2	Lebanon	Profound global developmental delay; Psychomotor retardation; Seizure; Cerebral atrophy; Focal T2 hyperintense basal ganglia lesion; Scoliosis; Broad forehead	Female	Yes	Yes	Sister of 616721.1.1
616721.1.3	Lebanon		Male	Yes		Father of 616721.1.1
616721.1.4	Lebanon		Female	Yes		Mother of 616721.1.1
616721.1.5	Lebanon		Male	Yes	Yes	Brother of 616721.1.1