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Browse result for Cednik syndrome
※ introduction A syndrome that has_material_basis_in homozygous mutation in the SNAP29 gene and characterized by a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, facial dysmoprhism, palmoplantar keratoderma and late-onset ichthyosis.
Reference
DiseaseOntology: Cednik syndrome
Reference
DiseaseOntology: Cednik syndrome
| PTMD ID | UniProt Accession | Entrez ID | Gene Name | Protein Name | Organism |
|---|---|---|---|---|---|
| PTMD03499 | O95721 | 9342 | SNAP29 | Synaptosomal-associated protein 29 | Homo sapiens |
