Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications. [From OMIM]
Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal dominant
8p11.21
Arboleda-Tham syndrome (ARTHS) is an autosomal dominant disorder with the core features of impaired intellectual development, speech delay, microcephaly, cardiac anomalies, and gastrointestinal complications. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 616268.1 | United Arab Emirates | Male | Yes | No | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability; Attention deficit hyperactivity disorder; Delayed speech and language development; Atrial septal defect  | NM_001305878.1:c.2378del | Heterozygous | Autosomal, Dominant | Saleh et al. 2021 | Father and siblings ... |