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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:0000639 | Nystagmus |
| HP:0000368 | Low-set, posteriorly rotated ears |
| HP:0000135 | Hypogonadism |
| HP:0000504 | Abnormality of vision |
| HP:0000055 | Abnormal female external genitalia morphology |
| HP:0000457 | Depressed nasal ridge |
| HP:0000270 | Delayed cranial suture closure |
| HP:0000648 | Optic atrophy |
| HP:0000708 | Atypical behavior |
| HP:0000717 | Autism |
