Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
6q25.3
Coffin-Siris syndrome is a multiple malformation syndrome characterized by mental retardation associated with coarse facial features, hypertrichosis, sparse scalp hair, and hypoplastic or absent fifth fingernails or toenails. Other more variable features may include poor overall growth, craniofacial abnormalities, spinal anomalies, and congenital heart defects. Mutations in the ARID1B gene are the most common cause of Coffin-Siris syndrome. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 135900.1 | United Arab Emirates | Female | No | No | Mucopolysacchariduria; Intellectual disa... Mucopolysacchariduria; Intellectual disability; Global developmental delay; Attention deficit hyperactivity disorder; Macrocephaly; Partial agenesis of the corpus callosum  | NM_017519.3:c.5080C>T | Heterozygous | Al-Shamsi et al. 2016; Saleh et al. 2021 | de novo mutation | |
| 135900.2 | United Arab Emirates | Female | No | No | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Failure to thrive; Acute encephalopathy; Hypoglycemia; Metabolic acidosis | NM_001374828.1:c.4058+1G>C | Heterozygous | Al-Shamsi et al. 2016; Saleh et al. 2021 | de novo mutation | |
| 135900.3.1 | United Arab Emirates | Female | Yes | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Agenesis of corpus callosum; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis; Autistic behavior; Aggressive behavior | NM_017519.3:c.4567C>T | Heterozygous | Autosomal, Dominant | Ben-Salem et al. 2016 | Baluchi origin Emira... |
| 135900.3.2 | United Arab Emirates | Male | Yes | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Dysplastic corpus callosum; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis; Ventricular septal defect | NM_017519.3:c.4567C>T | Heterozygous | Autosomal, Dominant | Ben-Salem et al. 2016 | Brother of 135900.3.... |
| 135900.3.3 | United Arab Emirates | Male | Yes | Yes | Intellectual disability; Global developm... Intellectual disability; Global developmental delay; Delayed speech and language development; Persistent head lag; Axial hypotonia; Bicuspid aortic valve; Brachycephaly; Narrow forehead; Low anterior hairline; Thick eyebrow; Long eyelashes; Low-set ears; Broad nasal tip; Thick lower lip vermilion; Broad hallux; Hypertrichosis | NM_017519.3:c.4567C>T | Heterozygous | Autosomal, Dominant | Ben-Salem et al. 2016 | Brother of 135900.3.... |