Terminology Service for NFDI4Health

CEDNIK syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0060337


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

CEDNIK syndrome

Synonyms
  • cerebral dysgenesis, neuropathy, ichthyosis and keratoderma syndrome
database cross reference
Subsets

DO_FlyBase_slim, DO_rare_slim

comment

Flybase.

created by

emitraka

creation date

2015-05-11T10:31:37Z

has obo namespace

disease_ontology

id

DOID:0060337