Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Hydrolethalus 2

Hydrolethalus syndrome 2 is a severe lethal malformation that is caused by mutations of the KIF7 gene.

Systematic

Inborn skeletal malformations
Al-Gazali-Bakalinova syndrome
Brachydactyly
Branchio-oculo-facial syndrome
Congenital contractural arachnodactyly
Ehlers-Danlos syndrome due to tenascin-X deficiency
Hydrolethalus 2
KIF7
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.

Putoux A et al. (2011) KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes.

external link
2.

OMIM.ORG article

Omim 614120 external link
3.

Orphanet article

Orphanet ID 2189 external link
Update: Aug. 14, 2020
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