Phenotype #0000001333

Individual ID 00002354
Associated disease SLOS
Inheritance Unknown
Diagnosis/Initial -
Diagnosis/Definite -
Age/Onset 00y00m01d
Age/Examination -
Phenotype/Onset -
Phenotype details ascertainment clinical presentation; developmental delay, growth retardation, microcephaly, ptosis, hypertelorism, low-set ears, micrognathia, cryptorchidism, hypospaidas, hypotonia
Biochem cholesterol: 800 umol/l, 7DHC: 660 umol/l
Protein -
Severity_score 75
Age/Diagnosis -
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
Date created 2013-03-13 11:50:04 +01:00 (CET)
Date last edited 2013-03-13 12:14:31 +01:00 (CET)

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