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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:0002119 | Ventriculomegaly |
| HP:0000219 | Thin upper lip vermilion |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0004322 | Short stature |
| HP:0000365 | Hearing impairment |
| HP:0000006 | Autosomal dominant inheritance |
| HP:0001274 | Agenesis of corpus callosum |
| HP:0000589 | Coloboma |
| HP:0005484 | Secondary microcephaly |
| HP:0000202 | Orofacial cleft |
