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 0
Associated with 1 gene B3GALT6
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Individuals

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00318163 V-2 PubMed: Ben-Mahmoud et al., 2018 This family was previously described in {PMID10319196: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 - 0 - - ALGAZ - B3GALT6 B3GALT6 1 1 Raymond Dalgleish
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