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chromosome 1p36 deletion syndrome
Summary
- Synonym
-
- 1p36 deletion syndrome
- deletion 1p36
- monosomy 1p36
- Definition
- A chromosomal deletion syndrome that has_material_basis_in by deletion of the chromosome 1p36 region and is characterized by severe intellectual disability, a small head, deep-set eyes with straight eyebrows, midface hypoplasia, a broad, flat nose, a pointed chin and low-set ears.
- Super Class
- chromosomal deletion syndrome
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002242 | Abnormal intestine morphology |
| HP:0002353 | EEG abnormality |
| HP:0002465 | Poor speech |
| HP:0002591 | Polyphagia |
| HP:0002650 | Scoliosis |
| HP:0002715 | Abnormality of the immune system |
| HP:0002808 | Kyphosis |
| HP:0003006 | Neuroblastoma |
| HP:0003198 | Myopathy |
| HP:0003416 | Spinal canal stenosis |
