Phenotype #0000352865

Individual ID 00467699
Associated disease SLOS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Smith-Lemli-Opitz syndrome
Diagnosis/Definite ALAZS
Age/Onset -
Age/Examination 15y (15 years)
Phenotype/Onset -
Phenotype details see paper; ..., no intrauterine growth restriction; Developmental delay, recurrent urinary tract infections, hypospadias, strabismus, growth retardation (weight 3rd percentile, height <3rd percentile), microcephaly (OFC <2nd centile), moderate intellectual disability (IQ 44)
Biochem -
Protein -
Severity_score -
Age/Diagnosis -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-27 15:47:16 +01:00 (CET)
Date last edited N/A

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