Male
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_001159773.2:c.899G>A | 2 | NA |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 251450.1 | United Arab Emirates | Skeletal dysplasia; Macrocephaly at birth; Short stature; Wide anterior fontanel | Male | Yes | ||
| 251450.2 | United Arab Emirates | Brachydactyly; Acromelia; Bilateral talipes equinovarus; Micrognathia; Narrow palpebral fissure | Female | Yes | Yes | |
| 251450.3 | United Arab Emirates | Skeletal dysplasia; Low-set ears; Abnormality of the outer ear; Narrow nasal bridge | Female | Yes | Yes | |
| 251450.5 | United Arab Emirates | Severe short stature; Multiple joint dislocation | Female | Yes | ||
| 251450.6 | United Arab Emirates | Limb undergrowth; Narrow chest; Neonatal respiratory distress; Round face; Micrognathia | Male | Yes | ||
| 251450.7 | United Arab Emirates | Intrauterine growth retardation; Large joint dislocations; Monkey wrench femoral neck; Talipes equinovarus; Radial club hand; Therapeutic abortion | No | Yes | ||
| 251450.8 | United Arab Emirates | Growth delay; Joint dislocation; Abnormality of the hand; Retrognathia; Glaucoma | Yes | |||
| 251450.9 | United Arab Emirates | Growth delay; Joint dislocation; Bifid distal phalanx of the thumb; Talipes equinovarus; Narrow chest; Craniosynostosis; Patent foramen ovale; Patent ductus arteriosus | Yes | |||
| 251450.11 | United Arab Emirates | Joint dislocation; Death in infancy | Male | Yes | Patient from 'family 8' in the publication | |
| 251450.12 | United Arab Emirates | Skeletal dysplasia | Yes | Fetus |