Joubert syndrome with hepatic defect (Q61012)
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Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of Joubert syndrome associated with congenital hepatic fibrosis (CHF).
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_139444027 |
||
| English | Joubert syndrome with hepatic defect |
Joubert syndrome with hepatic defect is a very rare subtype of Joubert syndrome related disorders (JSRD) characterised by the neurological features of Joubert syndrome associated with congenital hepatic fibrosis (CHF). |
