Seckel syndrome 1
Information
- Disease name
- Seckel syndrome 1
- Disease ID
- DOID:0070007
- Description
- "A Seckel syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the ATR gene on chromosome 3q23." [url:https\://www.ncbi.nlm.nih.gov/pubmed/12640452]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0050569
- Cross Reference ID (Disease Ontology)
- MESH:C537533
- Cross Reference ID (Disease Ontology)
- MIM:210600
- Exact Synonym (Disease Ontology)
- microcephalic primordial dwarfism I
- Exact Synonym (Disease Ontology)
- SCKL1