612940.1

Country

Saudi Arabia

HPO Terms

Intrauterine growth retardation; Postnatal growth retardation; Progeroid facial appearance; Global developmental delay; Abnormal facial shape; Cataract; Glaucoma; Buphthalmos; Corneal opacity

Back to search Result

Sex

Female

Parental Consanguinity

Yes

Subject Variants

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
NM_006907.4:c.616G>A	2	NA	Cutis Laxa, Autosomal Recessive, Type IIB

Download Table

Remarks

Patient was noted to have autosomal recessive cutis laxa type IIB in Maddirevula et al. 2018. She was reported with ophthalmological abnormalities in Alazami et al, 2016.

References

Maddirevula et al. 2018;
Alazami et al, 2016