Male
Yes
Yes
Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
---|---|---|---|---|
NM_005199.5:c.320T>G | 2 |
Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
---|---|---|---|---|---|---|
265000.1.1 | Saudi Arabia | Multiple pterygia; Ptosis; Downslanted palpebral fissures; Mask-like facies; Rocker bottom foot; Fused thoracic vertebrae; Diaphragmatic eventration | Male | Yes | Yes | Proband. He also had two affected siblings that died as neonates- a sister at 3 months due to congenital heart disease and a brother at 3 days due to lung hypoplasia. |
265000.1.2 | Saudi Arabia | Multiple pterygia; | Male | Yes | Yes | Double first cousin of 265000.1.1 |
265000.1.3 | Saudi Arabia | Multiple pterygia; | Male | Yes | Yes | Double first cousin of 265000.1.1, twin brother of 265000.1.2 |
265000.1.5 | Saudi Arabia | Multiple pterygia; | Male | Yes | Yes | Double first cousin of 265000.1.1, brother of 265000.1.4 |