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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:0000729 | Autistic behavior |
| HP:0002007 | Frontal bossing |
| HP:0001054 | Numerous nevi |
| HP:0003196 | Short nose |
| HP:0001249 | Intellectual disability |
| HP:0000957 | Cafe-au-lait spot |
| HP:0001397 | Hepatic steatosis |
| HP:0001513 | Obesity |
| HP:0000717 | Autism |
| HP:0002719 | Recurrent infections |
