Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
3p25.3
Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency is a rare, syndromic intellectual disability characterized by intellectual disability of various severity, hypotonia, feeding difficulties, dysmorphic features, autism and behavioral issues. Growth retardation, congenital heart anomalies, gastrointestinal and genitourinary defects have been rarely associated. [From Orphanet]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 615761.1 | United Arab Emirates | Female | No | No | Global developmental delay; Hypoglycemia... Global developmental delay; Hypoglycemia; Polydactyly  | NM_001080517.2:c.2347-7A>G | Heterozygous | Saleh et al. 2021 | de novo mutation |