Visualize Submit Comment
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

MESH:C537943

OMIM:609528

ORDO:66631

SNOMEDCT_US_2023_03_01:722385008

UMLS_CUI:C1836033

Subsets

DO_FlyBase_slim

DO_rare_slim

Synonyms

cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome [EXACT]

Parent Relationships

is_a syndrome

is_a autosomal recessive disease

Add an item to the term tracker