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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:0005280 | Depressed nasal bridge |
| HP:0006781 | Hurthle cell thyroid adenoma |
| HP:0003593 | Infantile onset |
| HP:0011098 | Speech apraxia |
| HP:0005490 | Postnatal macrocephaly |
| HP:0004422 | Biparietal narrowing |
| HP:0012520 | Dilation of Virchow-Robin spaces |
| HP:0004313 | Decreased circulating antibody level |
| HP:0011220 | Prominent forehead |
