Al-Gazali-Bakalinova syndrome

Al-Gazali-Bakalinova syndrome ia an autosomal recessive disorder caused by mutations of the KIF7 gene.

Systematic

Inborn skeletal malformations
	Al-Gazali-Bakalinova syndrome
		KIF7
	Brachydactyly
	Branchio-oculo-facial syndrome
	Congenital contractural arachnodactyly
	Ehlers-Danlos syndrome due to tenascin-X deficiency
	Hydrolethalus 2
	Lacrimoauriculodentodigital syndrome
	Loeys-Dietz syndrome
	Multiple synostoses syndrome
	Multiple synostoses syndrome 3
	Orofacial cleft 11
	Orofaciodigital syndrome
	Periodontal Ehlers-Danlos syndrome
	Proximal symphalangism
	Renal tubular acidosis with arthrogryposis
	Simpson-Golabi-Behmel syndrome
	Stapes ankylosis with broad thumbs and toes
	Syndactyly type 5
	Synpolydactyly type 1
	Tarsal-carpal coalition syndrome
	Tatton-Brown-Rahman syndrome
	Townes-Brocks syndrome
	Trigonocephaly 2
	Van Maldergem syndrome 2

References:

1.	al-Gazali LI et al. (1998) Autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

2.	Ali BR et al. (2012) A mutation in KIF7 is responsible for the autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia and distinctive facial appearance.

3.	Bayoumi R et al. (2001) Localisation of a gene for an autosomal recessive syndrome of macrocephaly, multiple epiphyseal dysplasia, and distinctive facies to chromosome 15q26.

4.	Karaer K et al. (2012) Macrocephaly with multiple epiphyseal dysplasia: a second example of Al Gazali-Bakalinova syndrome?

5.	OMIM.ORG article Omim 607131

Update: June 23, 2025

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