Name: PubCaseFinder
License: http://creativecommons.org/licenses/by/2.1/jp/
Keywords: PubCaseFinder,PCF,Rare Disease,Phenotype,Gene,Match,Assist

Nephrogenic diabetes insipidus-intracranial calcification syndrome

This syndrome is characterised by nephrogenic diabetes insipidus, intracerebral calcifications, intellectual deficit, short stature and facial dysmorphism.

Micrognathia

Developmental hypoplasia of the mandible.

Total: 0

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PMID (PMCID)