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craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development syndrome 2
Summary
- Definition
- A craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome that is characterized by flat face, low-set ears, and cleft lip and palate, as well as costovertebral anomalies including bifid and fused ribs, vertebral segmentation defects, and scoliosis. Intellectual delay can be severe, with absent speech and that has_material_basis_in homozygous mutation in the RAB5IF gene on chromosome 20q11.
- Super Class
- craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome
External Links
- Disease Ontology
- DOID:0081125
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9BUV8 | GEL complex subunit OPTI |
