Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
19p13.2
Coffin-Siris syndrome is a congenital malformation syndrome characterized by developmental delay, intellectual disability, coarse facial features, feeding difficulties, and hypoplastic or absent fifth fingernails and fifth distal phalanges. Other more variable features may also occur. Patients with SMARCA4 mutations may have less coarse craniofacial appearances and fewer behavioral abnormalities than Coffin-Siris patients with mutations in other genes. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 614609.1 | Lebanon | Male | Submucous cleft hard palate; Bifid uvul... Submucous cleft hard palate; Bifid uvula; Ataxia; Hypotonia; Global developmental delay; Omphalocele; Encephalocele  | NM_001128849.2:c.3506A>G | Heterozygous | Autosomal, Dominant | Nair et al. 2018 | |||
| 614609.2 | Saudi Arabia | Unknown | Delayed speech and language development;... Delayed speech and language development; Intellectual disability | NM_003072.5:c.1289T>C | Heterozygous | Autosomal, Dominant | Monies et al. 2019 | de novo mutation |