Phenotype #0000025703

Individual ID 00029692
Associated disease MRT
Phenotype details see paper; ID moderate (2x)/severe (5x), all illiterate, never attended regular school; facial dysmorphism tall forehead, prognatism, prominent chin, very large/ overhanging nose
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2015-01-27 22:49:18 +01:00 (CET)
Date last edited 2015-01-27 23:00:50 +01:00 (CET)

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