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Al-Gazali syndrome
rareAn autosomal recessive syndrome characterized by joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality.
- Identifiers
- MONDO:0012282 OMIM:609465Orphanet:2725
- Part of
- B3GALT6-related congenital disorder of glycosylationCongenital limb malformationDevelopmental anomaly of metabolic originSkeletal system disorderSyndromic disease
- Also known as
- Al Gazali Al Talabani syndrome · Al Gazali syndrome · eye defects arachnodactyly cardiopathy
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