219250.1

Country

Saudi Arabia

HPO Terms

Abnormal facial shape; Glaucoma; Macrocephaly; Seizure; Global developmental delay; Abnormal cerebral vascular morphology; Abnormal heart morphology; Hypospadias; Hydronephrosis; Congenital hypothyroidism; Livedo reticularis; Telangiectasia; Abnormality of skin pigmentation; Ischemic stroke

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Sex

Male

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_152522.7:c.192G>A	2	NA	Cutis Marmorata Telangiectatica Congenita

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Remarks

This patient has another homozygous variant (HDDC2: NM_016063:c.517G>C) that was considered an unlikely candidate based on carrier frequency in the tribe (3.3% - could be a tribe-specific polymorphism).

References

Abumansour et al. 2015