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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:0008736 | Hypoplasia of penis |
| HP:0008872 | Feeding difficulties in infancy |
| HP:0011228 | Horizontal eyebrow |
| HP:0011800 | Midface retrusion |
| HP:0012733 | Macule |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0100490 | Camptodactyly of finger |
| HP:0100559 | Lower limb asymmetry |
| HP:0100716 | Self-injurious behavior |
