Disease #00757 (Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528)
Official abbreviation |
- |
Name |
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome |
OMIM ID |
609528 |
Human Phenotype Ontology Project (HPO) |
HPO |
Inheritance |
Autosomal recessive |
Individuals reported having this disease |
1 |
Phenotype entries for this disease |
1 |
Associated with 1 gene |
SNAP29 |
Associated tissues |
- |
Disease features |
- |
Remarks |
- |
Individuals
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