has material basis in germline mutation in SNAP29 syndromic intellectual disability syndromic disease CEDNIK syndrome https://github.com/monarch-initiative/mondo/issues/5588 https://github.com/monarch-initiative/mondo/issues/6878 https://www.malacards.org/card/cerebral_dysgenesis_neuropathy_ichthyosis_and_palmoplantar_keratoderma_syndrome GARD:0009940 cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome MEDGEN:332113 MESH:C537943 MONDO:0012290 CEDNIK syndrome is a neurocutaneaous syndrome characterized by severe developmental abnormalities of the nervous system and aberrant differentiation of the epidermis. SCTID:722385008 DOID:0060337 UMLS:C1836033 cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Orphanet:66631 CEDNIK syndrome OMIM:609528 diffuse palmoplantar keratoderma