Congenital malformations, deformations and chromosomal abnormalities
Other congenital malformations
Autosomal recessive
17q25.1
IDDCDF is an autosomal recessive syndromic neurodevelopmental disorder characterized by globally impaired development with intellectual disability and speech delay, congenital cardiac malformations, and dysmorphic facial features. Additional features, such as distal skeletal anomalies, may also be observed. [From OMIM]
| Subject ID | Country | Sex | Family History | Parental Consanguinity | HPO Terms | Variant | Zygosity | Mode of Inheritance | Reference | Remarks |
|---|---|---|---|---|---|---|---|---|---|---|
| 618316.1 | United Arab Emirates | Female | No | Yes | Abnormal facial shape; Abnormality of th... Abnormal facial shape; Abnormality of the vertebral column; Intellectual disability; Ventricular septal defect; Atrial septal defect  | NM_014738.5:c.810del | Homozygous | Autosomal, Recessive | Saleh et al. 2021 | |
| 618316.2.1 | Qatar | Male | Yes | Yes | Neonatal respiratory distress; Patent fo... Neonatal respiratory distress; Patent foramen ovale; Generalized myoclonic-tonic-clonic seizure; Appendicular hypotonia; Axial hypotonia; Abnormal facial shape; Hyperintensity of cerebral white matter on MRI | NM_014738.5:c.810del | Homozygous | Autosomal, Recessive | Stephen et al. 2018 | |
| 618316.2.2 | Qatar | Female | Yes | Yes | Neonatal respiratory distress; Abnormal ... Neonatal respiratory distress; Abnormal facial shape; Generalized hypotonia; Delayed speech and language development; Specific learning disability | NM_014738.5:c.810del | Homozygous | Autosomal, Recessive | Stephen et al. 2018 | Sibling of 618316.2.... |
| 618316.2.3 | Qatar | Female | Yes | Yes | Neonatal respiratory distress; Abnormal ... Neonatal respiratory distress; Abnormal facial shape; Delayed speech and language development; Specific learning disability; Scoliosis; Pectus excavatum | NM_014738.5:c.810del | Homozygous | Autosomal, Recessive | Stephen et al. 2018 | Sibling of 618316.2.... |
| 618316.3.1 | Oman | Male | Yes | Tetralogy of Fallot with pulmonary atres... Tetralogy of Fallot with pulmonary atresia; Abnormal facial shape; Motor delay; Delayed speech and language development | NM_014738.6:c.2734C>T | Homozygous | Autosomal, Recessive | Stephen et al. 2018 | ||
| 618316.3.2 | Oman | Female | Yes | Abnormal facial shape; Global developmen... Abnormal facial shape; Global developmental delay; Atrial septal defect | NM_014738.6:c.2734C>T | Homozygous | Autosomal, Recessive | Stephen et al. 2018 | Sibling of 618316.3.... |