Joubert syndrome 04

Joubert syndrome 4 is an autosomal recessive disorder caused by mutations of the NPHP1 gene.

Systematic

Joubert syndrome
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		NPHP1
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References:

1.	Parisi MA et al. (2006) AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.

2.	Parisi MA et al. (2004) The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.

3.	OMIM.ORG article Omim 609583

Update: June 23, 2025

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