Phenotype #0000001343

Individual ID 00002364
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset -
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; postnatal cataract, microcephaly, ptosis, low set ears, cleft plaate, prominent alveolar ridges, micrognathia, webbed neck, postaxial polydactyly, 2-3 toe syndactyly, poor feeding
Biochem cholesterol: 8 mg/dl, 7DHC: 24 mg/dl
Protein -
Severity_score -
Age/Diagnosis 00y03m
Owner name Division of Human Genetics, Innsbruck
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Division of Human Genetics, Innsbruck