Joubert syndrome with renal defect

Orpha code: 220497OMIM code: 614424

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
JS-R
JS-R
ORPHA code
220497
OMIM code
614424
ICD10 code
Q61.5
ICD11 code
LD20.0Y

No additional description.

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