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Baraitser-Winter syndrome 2
Summary
- Definition
- A Baraitser-Winter syndrome that has_material_basis_in heterozygous mutation in the ACTG1 gene on chromosome 17q25.
- Super Class
- Baraitser-Winter syndrome autosomal dominant disease
External Links
- Disease Ontology
- DOID:0081113
- Mondo Disease Ontology
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0005487 | Prominent metopic ridge |
| HP:0009942 | Duplication of thumb phalanx |
| HP:0010529 | Echolalia |
| HP:0010935 | Abnormality of the upper urinary tract |
| HP:0011968 | Feeding difficulties |
| HP:0012157 | Subcortical cerebral atrophy |
| HP:0012905 | Euryblepharon |
| HP:0100308 | Cerebral cortical hemiatrophy |
| HP:0100540 | Palpebral edema |
| HP:0000568 | Microphthalmia |
