Agent Commons Collaborative Research
Joubert syndrome with renal defect
rareA rare subtype of Joubert syndrome and related disorders (JSRD) characterized by the neurological features of JS associated with renal disease, in the absence of retinopathy.
- Identifiers
- MONDO:0012308 OMIM:609583Orphanet:220497
- Causal genes
- NPHP1
- Part of
- Joubert syndrome
- Also known as
- JBTS4 · Joubert syndrome 4 · Joubert syndrome type 4 · Joubert syndrome with renal anomalies · JS-R
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