Disease #05816 (ALGAZ (Al-Gazali syndrome (ALGAZ)), OMIM:609465)

Official abbreviation ALGAZ
Name Al-Gazali syndrome (ALGAZ)
OMIM ID 609465
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 1
Phenotype entries for this disease -
Associated with 1 gene B3GALT6
Associated tissues -
Disease features -
Remarks -
Date created 2020-08-24 10:56:12 +02:00 (CEST)
Date last edited 2020-08-27 16:49:38 +02:00 (CEST)


Individuals

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00318163 V-2 PubMed: Ben-Mahmoud et al., 2018 This family was previously described in PubMed: Al-Gazali et al., 1999. The proband had two siblings V-1, and V-2, who carried the same variants and phenotype. The authors of {PMID29443383:Ben-Mahmoud et al., 2018} suggest that Al-Gazali syndrome represents the more severe phenotype among B3GALT6-related diseases due to patients dying within the first few months of life. - - Palestine Palestinian - - - - ALGAZ - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
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