macrocephaly-autism syndrome
Information
- Disease name
- macrocephaly-autism syndrome
- Disease ID
- DOID:0060867
- Description
- "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." [url:https\://www.ncbi.nlm.nih.gov/pubmed/15805158, url:https\://www.ncbi.nlm.nih.gov/pubmed/1719811]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:C565342
- Cross Reference ID (Disease Ontology)
- MIM:605309
- Cross Reference ID (Disease Ontology)
- ORDO:210548
- Exact Synonym (Disease Ontology)
- macrocephaly-intellectual disability-autism syndrome