Joubert syndrome with renal defect

Joubert syndrome with renal defect is a rare subtype of Joubert syndrome and related disorders (JSRD, see this term) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.



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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: 36

HPO ID Term Frequency
HP:0000112 Nephropathy Very frequent (99-80%)
HP:0000657 Oculomotor apraxia Very frequent (99-80%)
HP:0001249 Intellectual disability Very frequent (99-80%)
HP:0001251 Ataxia Very frequent (99-80%)
HP:0001252 Muscular hypotonia Very frequent (99-80%)
HP:0001263 Global developmental delay Very frequent (99-80%)
HP:0001320 Cerebellar vermis hypoplasia Very frequent (99-80%)
HP:0002104 Apnea Very frequent (99-80%)
HP:0002419 Molar tooth sign on MRI Very frequent (99-80%)
HP:0002793 Abnormal pattern of respiration Very frequent (99-80%)
HP:0000276 Long face Frequent (79-30%)
HP:0000368 Low-set, posteriorly rotated ears Frequent (79-30%)
HP:0000639 Nystagmus Frequent (79-30%)
HP:0001288 Gait disturbance Frequent (79-30%)
HP:0004422 Biparietal narrowing Frequent (79-30%)
HP:0011968 Feeding difficulties Frequent (79-30%)
HP:0000083 Renal insufficiency Occasional (29-5%)
HP:0000175 Cleft palate Occasional (29-5%)
HP:0000202 Oral cleft Occasional (29-5%)
HP:0000238 Hydrocephalus Occasional (29-5%)
HP:0000426 Prominent nasal bridge Occasional (29-5%)
HP:0000463 Anteverted nares Occasional (29-5%)
HP:0000486 Strabismus Occasional (29-5%)
HP:0000508 Ptosis Occasional (29-5%)
HP:0000612 Iris coloboma Occasional (29-5%)
HP:0000864 Abnormality of the hypothalamus-pituitary axis Occasional (29-5%)
HP:0001161 Hand polydactyly Occasional (29-5%)
HP:0001250 Seizures Occasional (29-5%)
HP:0001274 Agenesis of corpus callosum Occasional (29-5%)
HP:0001337 Tremor Occasional (29-5%)
HP:0002084 Encephalocele Occasional (29-5%)
HP:0002126 Polymicrogyria Occasional (29-5%)
HP:0002251 Aganglionic megacolon Occasional (29-5%)
HP:0002553 Highly arched eyebrow Occasional (29-5%)
HP:0002564 obsolete Malformation of the heart and great vessels Occasional (29-5%)
HP:0002650 Scoliosis Occasional (29-5%)


Phenotype(s) retrieved from case reports

    Total: 0

HPO ID Term # of case reports


Causative gene(s) retrieved from Orphanet

    Total: 3

Gene Symbol Gene Name Entrez Gene ID
NPHP1 nephrocystin 1 4867
RPGRIP1L RPGRIP1 like 23322
TMEM237 transmembrane protein 237 65062