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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:0000534 | Abnormal eyebrow morphology |
| HP:0000252 | Microcephaly |
| HP:0000431 | Wide nasal bridge |
| HP:0000028 | Cryptorchidism |
| HP:0000307 | Pointed chin |
| HP:0000486 | Strabismus |
| HP:0000107 | Renal cyst |
| HP:0000518 | Cataract |
| HP:0000248 | Brachycephaly |
| HP:0000407 | Sensorineural hearing impairment |
