Congenital malformations, deformations and chromosomal abnormalities
19q13.33
Basel-Vanagaite-Smirin-Yosef syndrome is an autosomal recessive multiple congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616449.1.1 | Lebanon | Male | Yes | No | Cleft palate; Coarctation of aorta; Vent... Cleft palate; Coarctation of aorta; Ventricular septal defect; Global developmental delay; Psychomotor retardation; Wide anterior fontanel; High forehead; Sparse scalp hair; Sparse eyebrow; Depressed nasal bridge; Broad nasal tip; Hypertelorism; Short philtrum; Wide mouth; Thin upper lip vermilion; Bilateral single transverse palmar creases; Hypotonia  | NM_030973.4:c.518T>C | Homozygous | Autosomal, Recessive | Nair et al, 2019 | Proband |
| 616449.1.2 | Lebanon | Female | Yes | No | Psychomotor retardation; Hypotonia; Glob... Psychomotor retardation; Hypotonia; Global developmental delay; Wide anterior fontanel; High forehead; Sparse scalp hair; Sparse eyebrow; Hypertelorism; Nevus flammeus; Short philtrum; Depressed nasal bridge; Broad nasal tip; Exaggerated cupid's bow | NM_030973.4:c.518T>C | Homozygous | Autosomal, Recessive | Nair et al, 2019 | Sister of proband |
| 616449.2 | Lebanon | Female | Yes | Global developmental delay; Seizure; Ata... Global developmental delay; Seizure; Ataxia; Hypotonia; Microcephaly | NM_030973.4:c.518T>C | Homozygous | Autosomal, Recessive | Nair et al. 2019 |