Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
11q23.3
Wiedemann-Steiner syndrome is a congenital malformation syndrome characterized by hypertrichosis cubiti associated with short stature; consistent facial features, including long eyelashes, thick or arched eyebrows with a lateral flare, wide nasal bridge, and downslanting and vertically narrow palpebral fissures; mild to moderate intellectual disability; behavioral difficulties; and hypertrichosis on the back. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 147920.2 | Lebanon | Male | Microcephaly; Hypotonia; Global develo... Microcephaly; Hypotonia; Global developmental delay; Abnormal facial shape; High palate; Gowers sign  | NM_001197104.1:c.2627_2630delGAGA | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | |||
| 605130.1 | United Arab Emirates | Female | Yes | No | Intellectual disability; Attention defic... Intellectual disability; Attention deficit hyperactivity disorder; Abnormal facial shape | NM_001197104.1:c.10881_10884del | Heterozygous | Autosomal, Dominant | Saleh et al. 2021 | Affected father and ... |
| 605130.2 | United Arab Emirates | Male | No | No | Short stature; Abnormal facial shape; De... Short stature; Abnormal facial shape; Delayed speech and language development; Failure to thrive; Horseshoe kidney | NM_001197104.1:c.5239C>T | Heterozygous | Saleh et al. 2021 | de novo mutation |