Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
20p11.21
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 617662.1.1 | Saudi Arabia | Female | Yes | Yes | Short stature; Joint hypermobility; Mult... Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; Kyphoscoliosis; Lumbar hyperlordosis; High myopia; Glaucoma; Hearing impairment  | NM_022482.5:c.865G>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Patient from 'family... |
| 617662.1.2 | Saudi Arabia | Male | Yes | Yes | Short stature; Joint hypermobility; Mult... Short stature; Joint hypermobility; Multiple joint dislocation; Bilateral talipes equinovarus; Pectus carinatum; High myopia; Cervical kyphosis; Hypothyroidism; Inguinal hernia; Umbilical hernia | NM_022482.5:c.865G>T | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Brother of 617662.1.... |
| 617662.2.1 | Saudi Arabia | Male | Yes | Yes | Short stature; Joint hypermobility; Abno... Short stature; Joint hypermobility; Abnormal sternum morphology; Scoliosis; High myopia; Iris coloboma; Chorioretinal coloboma; Retinal detachment; Hearing impairment | NM_022482.5:c.1054dup | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Patient from 'family... |
| 617662.2.2 | Saudi Arabia | Male | Yes | Yes | Short stature; Joint hypermobility; Abno... Short stature; Joint hypermobility; Abnormal sternum morphology; High myopia; Iris coloboma; Chorioretinal coloboma; Retinal detachment; Bilateral talipes equinovarus | NM_022482.5:c.1054dup | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Brother of 617662.2.... |
| 617662.2.3 | Saudi Arabia | Male | Yes | Yes | Short stature; Joint hypermobility; Abno... Short stature; Joint hypermobility; Abnormal sternum morphology; High myopia | NM_022482.5:c.1054dup | Homozygous | Autosomal, Recessive | Patel et al. 2017 | Brother of 617662.2.... |