Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
10q25.3-q26.11
Intellectual developmental disorder with autism and dysmorphic facies (IDDADF) is an autosomal recessive neurodevelopmental disorder characterized by moderate to severely impaired cognitive development associated with behavioral abnormalities, including autism spectrum disorder. Affected individuals have variable dysmorphic facial features. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 620021.1.1 | Oman | Male | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, severe; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopathy; Disproportionate tall stature  | NM_173791.5:c.2197_2200del | Homozygous | Autosomal, Recessive | Al-Amri et al. 2022 | |
| 620021.1.2 | Oman | Male | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopathy; Seizure; Obsessive-compulsive behavior | NM_173791.5:c.2197_2200del | Homozygous | Autosomal, Recessive | Al-Amri et al. 2022 | Sibling of 620021.1.... |
| 620021.1.3 | Oman | Female | Yes | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, severe; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopia; Myopathy; Seizure; Abnormal heart morphology; Attention deficit hyperactivity disorder; Insomnia; Disproportionate tall stature; Hypoplasia of the corpus callosum | NM_173791.5:c.2197_2200del | Homozygous | Autosomal, Recessive | Al-Amri et al. 2022 | Sibling of 620021.1.... |
| 620021.2 | United Arab Emirates | Male | Yes | Global developmental delay; Intellectual... Global developmental delay; Intellectual disability, moderate; Autistic behavior; Abnormal facial shape; Hypertelorism; Myopia; Attention deficit hyperactivity disorder; Bilateral ptosis; Astigmatism; Overlapping toe | NM_173791.5:c.894C>G | Homozygous | Autosomal, Recessive | Al-Amri et al. 2022 |