Disease #00757

Official abbreviation -
Name Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
OMIM ID 609528
Human Phenotype Ontology Project (HPO) HPO
Individuals reported having this disease 1
Phenotype entries for this disease 1
Associated with 1 gene SNAP29
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Individuals

1 entry on 1 page. Showing entry 1.
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00080888 - Trujillano et al., submitted unaffected parents - - - - - 0 - - Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (OMIM:609528) SNAP29 SNAP29 1 1 Daniel Trujillano
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