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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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
- OMIM
- MGI genotype (from TogoID)
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0003196 | Short nose |
| HP:0000957 | Cafe-au-lait spot |
| HP:0001397 | Hepatic steatosis |
| HP:0001548 | Overgrowth |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| HP:0003593 | Infantile onset |
| HP:0000343 | Long philtrum |
| HP:0002208 | Coarse hair |
| HP:0005490 | Postnatal macrocephaly |
