Female
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_025216.3:c.697G>T | 1 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
257980.1.1 | Lebanon | Dry hair ; Keratosis pilaris ; Hypodontia ; Smooth tongue ; Nail dysplasia ; Nail dystrophy ; Palmoplantar erythema ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis | Male | Yes | Yes | |
257980.1.2 | Lebanon | Dry hair ; Keratosis pilaris ; Hypodontia ; Smooth tongue ; Nail dysplasia ; Nail dystrophy ; Palmoplantar erythema ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis | Male | Yes | Yes | Brother of 257980.1.1 |
257980.1.3 | Lebanon | Dry hair ; Keratosis pilaris ; Hypodontia ; Smooth tongue ; Nail dysplasia ; Nail dystrophy ; Palmoplantar erythema ; Palmoplantar keratoderma ; Palmoplantar hyperhidrosis | Male | Yes | Yes | First cousin of 257980.1.1 |
257980.1.4 | Lebanon | Male | Yes | Unaffected father of 257980.1.1 | ||
257980.1.6 | Lebanon | Male | Yes | Unaffected father of 257980.1.3 | ||
257980.1.7 | Lebanon | Female | Yes | Unaffected mother of 257980.1.3 |