| Metadata | |
|---|---|
| ID | DOID:0060337 |
| Name | CEDNIK 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. https://www.ncbi.nlm.nih.gov/pubmed/21073448 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722385008 |
| Subsets |
DO_FlyBase_slim DO_rare_slim |
| Synonyms |
cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome [EXACT] |
| Parent Relationships |
is_a syndrome |