Seckel syndrome
Information
- Disease name
- Seckel syndrome
- Disease ID
- DOID:0050569
- Description
- "A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability." [url:http\://en.wikipedia.org/wiki/Seckel_syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03139903 | Completed | The Primordial Dwarfisms: Diagnosis, Identification of the Molecular Basis of Seckel Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II | July 28, 2010 | July 2015 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:8562
- Cross Reference ID (Disease Ontology)
- ICD10CM:Q87.1
- Cross Reference ID (Disease Ontology)
- MIM:PS210600
- Cross Reference ID (Disease Ontology)
- ORDO:808
- Exact Synonym (Disease Ontology)
- bird-headed dwarfism
- Exact Synonym (Disease Ontology)
- Harper's syndrome
- Exact Synonym (Disease Ontology)
- microcephalic primordial dwarfism
- Exact Synonym (Disease Ontology)
- Virchow-Seckel dwarfism
- OMIM Phenotype Series Number (OMIM)
- PS210600
- OrphaNumber from OrphaNet (Orphanet)
- 808