Phenotype #0000359463

Individual ID 00474669
Associated disease SLOS
Inheritance Familial, autosomal recessive
Diagnosis/Initial mild SLOS
Diagnosis/Definite MIM:270400
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details two unrelated patients (female and male) with mild SLOS phenotype
Biochem -
Protein -
Severity_score -
Age/Diagnosis -
Owner name Julia Martinkova
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Julia Martinkova
Date created 2026-03-20 12:28:03 +01:00 (CET)
Date last edited 2026-03-23 19:40:24 +01:00 (CET)

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