Source: ALL
Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
Long eyelashes
CUI: C1853738
Disease: Long eyelashes
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Single transverse palmar crease
CUI: C0424731
Disease: Single transverse palmar crease
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Highly arched eyebrow
CUI: C1868571
Disease: Highly arched eyebrow
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Prominent digit pad
CUI: C4023424
Disease: Prominent digit pad
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Micrognathism
CUI: C0025990
Disease: Micrognathism
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Abnormality of the genital system
CUI: C0744356
Disease: Abnormality of the genital system
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Low-set, posteriorly rotated ears
CUI: C1857486
Disease: Low-set, posteriorly rotated ears
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Synophrys
CUI: C0431447
Disease: Synophrys
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Poor school performance
CUI: C1843367
Disease: Poor school performance
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Acid reflux
CUI: C4317146
Disease: Acid reflux
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Blepharoptosis
CUI: C0005745
Disease: Blepharoptosis
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Congenital diaphragmatic hernia
CUI: C0235833
Disease: Congenital diaphragmatic hernia
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
CORNELIA DE LANGE SYNDROME 4
CUI: C3553517
Disease: CORNELIA DE LANGE SYNDROME 4
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019
Byzanthine arch palate
CUI: C0240635
Disease: Byzanthine arch palate
0.700 GeneticVariation CLINVAR A novel RAD21 p.(Gln592del) variant expands the clinical description of Cornelia de Lange syndrome type 4 - Review of the literature. 30125677 2019