Joubert syndrome 27

Joubert syndrome type 27 is an autosomal recessive disorder caused by mutations in the B9D1 gene.

Systematic

Joubert syndrome
	Joubert syndrome 01
	Joubert syndrome 02
	Joubert syndrome 03
	Joubert syndrome 04
	Joubert syndrome 05
	Joubert syndrome 06
	Joubert syndrome 07
	Joubert syndrome 08
	Joubert syndrome 09
	Joubert syndrome 10
	Joubert syndrome 11
	Joubert syndrome 12
	Joubert syndrome 13
	Joubert syndrome 14
	Joubert syndrome 15
	Joubert syndrome 16
	Joubert syndrome 17
	Joubert syndrome 18
	Joubert syndrome 19
	Joubert syndrome 20
	Joubert syndrome 21
	Joubert syndrome 22
	Joubert syndrome 23
	Joubert syndrome 24
	Joubert syndrome 25
	Joubert syndrome 26
	Joubert syndrome 27
		B9D1
	Joubert syndrome 28
	Joubert syndrome 29
	Joubert syndrome 30
	Joubert syndrome 31
	Joubert syndrome 32
	Joubert syndrome 33
	Joubert syndrome 34
	Joubert syndrome 35

References:

1.	Romani M et al. (2014) Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome.

2.	OMIM.ORG article Omim 617120

Update: June 23, 2025

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