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CEDNIK syndrome
Summary
- Synonym
-
- cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
- Definition
- 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.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0060337
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P42356 | Phosphatidylinositol 4-kinase alpha |
