Joubert syndrome with renal defect

Orpha code: 220497OMIM code: 614424

Definicja

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
Klasyfikacja

Malformation syndrome

Synonimy
JS-R
JS-R
Kod ORPHA
220497
Kod OMIM
614424
Kod ICD10
Q61.5
Kod ICD11
LD20.0Y

No additional description.

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