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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:0000405 | Conductive hearing impairment |
| HP:0000160 | Narrow mouth |
| HP:0000505 | Visual impairment |
| HP:0000077 | Abnormality of the kidney |
| HP:0000464 | Abnormality of the neck |
| HP:0000286 | Epicanthus |
| HP:0000047 | Hypospadias |
| HP:0000343 | Long philtrum |
| HP:0000490 | Deeply set eye |
| HP:0000126 | Hydronephrosis |
