CEDNIK syndrome

Term ID

DOID:0060337

Synonyms

• 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. https://www.ncbi.nlm.nih.gov/pubmed/21073448

References

• MESH:C537943
• OMIM:609528
• ORDO:66631
• SNOMEDCT_US_2023_03_01:722385008
• UMLS_CUI:C1836033

Ontology

Human Disease   ( DOID:0060337 )