Female
Yes
Yes
| Variant Name | Allele Count | Allele Frequency | Associated Disease | Associated Gene |
|---|---|---|---|---|
| NM_004525.3:c.7564T>C | 2 |
| Subject Id | Country | HPO Terms | Sex | Family History | Parental Consanguinity | Remarks |
|---|---|---|---|---|---|---|
| 222448.2.2 | United Arab Emirates | Pulmonary hypoplasia; Omphalocele; Hypertelorism; Myopia; Agenesis of corpus callosum; Wide anterior fontanel; Hearing impairment; Global developmental delay; Retinal dystrophy; Short sternum; Scoliosis; Abnormal rib cage morphology; Abnormal pulmonary artery morphology; Preauricular skin tag | Female | Yes | Yes | Patient 'IV-6' from kindred 1 in the publication, sister of 'IV-5' |
| 222448.2.3 | United Arab Emirates | Omphalocele; Hypertelorism; Myopia; Wide anterior fontanel; Hearing impairment; Global developmental delay | Male | Yes | Yes | Patient 'IV-2' from kindred 1 in the publication, kindred 1 is of Yemeni origin |
| 222448.2.4 | United Arab Emirates | Omphalocele; Hypertelorism; Myopia; Wide anterior fontanel; Hearing impairment; Global developmental delay; Albinism | Male | Yes | Yes | Patient 'IV-3' from kindred 1 in the publication, brother of 'IV-2' |
| 222448.2.5 | United Arab Emirates | Hearing impairment; Hypertelorism; Downslanted palpebral fissures; Short nose; Visual impairment; Esotropia; Hypoplastic iris stroma; Chorioretinal atrophy; Myopia | Female | Yes | Yes | Sister of 222448.2.1 and 222448.2.2 |
| 222448.2.6 | United Arab Emirates | Global developmental delay; Hearing impairment; Wide anterior fontanel; Hypertelorism; Downslanted palpebral fissures; Short nose; Visual impairment; Retinal detachment | Male | Yes | Yes | Double cousin of 222448.2.1 |