Male
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001139.3:c.944T>C | 1 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 242100.2.1 | United Arab Emirates | Congenital nonbullous ichthyosiform erythroderma; Neonatal sepsis; Pneumonia; Glabellar hemangioma; Abnormality of the palmar creases; Contracture of the proximal interphalangeal joint of the 5th finger; Blue nevus; Cutis marmorata; Prominent forehead; Wide nasal bridge; Micrognathia | Female | Yes | ||
| 242100.2.3 | United Arab Emirates | Female | Unaffected mother of 242100.2.1 |