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macrocephaly-autism syndrome
Summary
- Synonym
-
- macrocephaly-intellectual disability-autism syndrome
- Definition
- A syndrome characterized by macrocephaly, facial phenotypes including square outline with frontal bossing, 'dished-out' midface, biparietal narrowing, and long philtrum, developmental delay and autism that has_material_basis_in heterozygous mutation in the PTEN gene on chromosome 10q23.
- Super Class
- autosomal dominant disease syndrome
External Links
- Disease Ontology
- DOID:0060867
- Mondo Disease Ontology
- MeSH
- ORDO
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P60484 | Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001177 | Preaxial hand polydactyly |
| HP:0002890 | Thyroid carcinoma |
| HP:0000750 | Delayed speech and language development |
| HP:0001270 | Motor delay |
| HP:0000316 | Hypertelorism |
| HP:0001250 | Seizure |
| HP:0001829 | Foot polydactyly |
| HP:0001012 | Multiple lipomas |
| HP:0000256 | Macrocephaly |
| HP:0001252 | Hypotonia |
