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Cornelia de Lange syndrome 1
Summary
- Definition
- A Cornelia de Lange syndrome characterized by facial dysmorphism, including low anterior hairline, arched eyebrows, synophrys, anteverted nares, maxillary prognathism, long philtrum, thin lips, and 'carp' mouth, in association with prenatal and postnatal growth retardation, impaired intellectual development, and, in many cases, upper limb anomalies that has_material_basis_in heterozygous mutation in the NIPBL gene, which encodes a component of the cohesin complex, on chromosome 5p13.
- Super Class
- Cornelia de Lange syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0080505
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6KC79 | Nipped-B-like protein |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q6KCD5 | Nipped-B-like protein |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009623 | Proximal placement of thumb |
| HP:0009830 | Peripheral neuropathy |
| HP:0010034 | Short 1st metacarpal |
| HP:0010300 | Abnormally low-pitched voice |
| HP:0010864 | Intellectual disability, severe |
| HP:0010880 | Increased nuchal translucency |
| HP:0012165 | Oligodactyly |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0200055 | Small hand |
