Histidinuria-renal tubular defect syndrome




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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: 14

HPO ID Term Frequency
HP:0000343 Long philtrum Very frequent (99-80%)
HP:0000400 Macrotia Very frequent (99-80%)
HP:0000407 Sensorineural hearing impairment Very frequent (99-80%)
HP:0000431 Wide nasal bridge Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001800 Hypoplastic toenails Very frequent (99-80%)
HP:0001943 Hypoglycemia Very frequent (99-80%)
HP:0002119 Ventriculomegaly Very frequent (99-80%)
HP:0002120 Cerebral cortical atrophy Very frequent (99-80%)
HP:0002750 Delayed skeletal maturation Very frequent (99-80%)
HP:0002927 Histidinuria Very frequent (99-80%)
HP:0005819 Short middle phalanx of finger Very frequent (99-80%)
HP:0005844 Rounded middle phalanx of finger Very frequent (99-80%)
HP:0008666 Impaired histidine renal tubular absorption Very frequent (99-80%)


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