Nephrogenic diabetes insipidus-intracranial calcification syndrome

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



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Total: 0 (papers)
  


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Matched Phenotype  Gene  Mutation  MeSH
Rank
(Similarity)		 PMID
(PMCID)
        

Phenotype(s) retrieved from Orphanet

    Total: 15

HPO ID Term Frequency
HP:0000347 Micrognathia Very frequent (99-80%)
HP:0000494 Downslanted palpebral fissures Very frequent (99-80%)
HP:0000670 Carious teeth Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001376 Limitation of joint mobility Very frequent (99-80%)
HP:0001939 Abnormality of metabolism/homeostasis Very frequent (99-80%)
HP:0002514 Cerebral calcification Very frequent (99-80%)
HP:0004322 Short stature Very frequent (99-80%)
HP:0009738 Abnormality of the antihelix Very frequent (99-80%)
HP:0009806 Nephrogenic diabetes insipidus Very frequent (99-80%)
HP:0010669 Hypoplasia of the zygomatic bone Very frequent (99-80%)
HP:0011069 Increased number of teeth Very frequent (99-80%)
HP:0000405 Conductive hearing impairment Frequent (79-30%)
HP:0000823 Delayed puberty Frequent (79-30%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 0

Gene Symbol Gene Name Entrez Gene ID