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Browse result for Cednik syndrome

※ introduction

    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.

Reference
DiseaseOntology: Cednik syndrome



PTMD IDUniProt AccessionEntrez IDGene NameProtein NameOrganism
PTMD03499O957219342
SNAP29
Synaptosomal-associated protein 29
Homo sapiens