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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:0001829 | Foot polydactyly |
| HP:0002007 | Frontal bossing |
| HP:0002015 | Dysphagia |
| HP:0002019 | Constipation |
| HP:0002020 | Gastroesophageal reflux |
| HP:0002021 | Pyloric stenosis |
| HP:0002119 | Ventriculomegaly |
| HP:0002120 | Cerebral cortical atrophy |
| HP:0002167 | Abnormality of speech or vocalization |
| HP:0002230 | Generalized hirsutism |
