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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:0001508 | Failure to thrive |
| HP:0001513 | Obesity |
| HP:0001636 | Tetralogy of Fallot |
| HP:0001643 | Patent ductus arteriosus |
| HP:0001644 | Dilated cardiomyopathy |
| HP:0001654 | Abnormal heart valve morphology |
| HP:0001671 | Abnormal cardiac septum morphology |
| HP:0001734 | Annular pancreas |
| HP:0001743 | Abnormality of the spleen |
| HP:0001773 | Short foot |
