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.

Downslanted palpebral fissures

The palpebral fissure inclination is more than two standard deviations below the mean.

Total: 0

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PMID (PMCID)