Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
17q21.31
Koolen-De Vries syndrome is characterized by moderate to severe intellectual disability, hypotonia, friendly demeanor, and highly distinctive facial features, including tall, broad forehead, long face, upslanting palpebral fissures, epicanthal folds, tubular nose with bulbous nasal tip, and large ears. More variable features include cardiac or genitourinary anomalies and seizures. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 610443.1 | Lebanon | Male | Yes | Everted lower lip vermilion; Ptosis; I... Everted lower lip vermilion; Ptosis; Intellectual disability; Hypotonia; Motor delay; Joint hypermobility; Expressive language delay; Short stature  | NM_001193466.2:c.808_809delCT | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | ||
| 610443.2 | United Arab Emirates | Male | No | Intrauterine growth retardation; Cryptor... Intrauterine growth retardation; Cryptorchidism; Hydronephrosis; Dandy-Walker malformation; Short stature; Decreased body weight; Atrial septal defect; Ventricular septal defect; Recurrent lower respiratory tract infections; Thoracic scoliosis; Global developmental delay; Abnormal facial shape | NC_000017.11:g.42875129_43570427dup | Heterozygous | Autosomal, Dominant | Alabdullatif et al. 2017 |