Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
LM-GlycoRepo
Repository for lectin-assisted multimodality data
All Resources
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:0200008 | Intestinal polyposis |
| HP:0001012 | Multiple lipomas |
| HP:0001829 | Foot polydactyly |
| HP:0000256 | Macrocephaly |
| HP:0002007 | Frontal bossing |
| HP:0001054 | Numerous nevi |
| HP:0006781 | Hurthle cell thyroid adenoma |
| HP:0000729 | Autistic behavior |
| HP:0001252 | Hypotonia |
| HP:0011800 | Midface retrusion |
