Male
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_000501.4:c.631C>T | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 219100.2.1 | Lebanon | Redundant skin; Global developmental delay; Hoarse voice; Abnormal facial shape; Joint laxity | Female | Yes | Yes | Homozygous mutation in ELN. Phenotype modified by mutation in FBN5 |
| 219100.2.3 | Lebanon | Female | Mother of 219100.2.1 | |||
| 219100.2.4 | Lebanon | Male | Father of 219100.2.1 |