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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:0004209 | Clinodactyly of the 5th finger |
| HP:0004322 | Short stature |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0004378 | Abnormality of the anus |
| HP:0005113 | Aortic arch aneurysm |
| HP:0005280 | Depressed nasal bridge |
| HP:0006824 | Cranial nerve paralysis |
| HP:0008066 | Abnormal blistering of the skin |
| HP:0008499 | High hypermetropia |
| HP:0008551 | Microtia |
