ZFIN Human Disease: CEDNIK syndrome

OBO ID: DOID:0060337

Term Name:	CEDNIK syndrome		Search Ontology:
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 )

Relationships

is a type of:	autosomal recessive disease syndrome autosomal recessive disease syndrome Show first 5 Terms

OTHER CEDNIK syndrome PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
SNAP29	snap29	Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome	609528

ZEBRAFISH MODELS

Fish	Conditions	Citations
snap29^{sa13359/sa13359}	standard conditions	Mastrodonato et al., 2019

PHENOTYPE No data available

CITATIONS (1)