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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:0000733 | Motor stereotypy |
| HP:0000750 | Delayed speech and language development |
| HP:0000821 | Hypothyroidism |
| HP:0000878 | 11 pairs of ribs |
| HP:0000892 | Bifid ribs |
| HP:0000902 | Rib fusion |
| HP:0001009 | Telangiectasia |
| HP:0001107 | Ocular albinism |
| HP:0001156 | Brachydactyly |
| HP:0001249 | Intellectual disability |
