Global Variome shared LOVD

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Phenotype #0000079011 Individual ID 00079752 Associated disease stature, short Phenotype details see paper; 2 index cases had severe short stature (height SD score -4.1 and-4.6), microcephaly, low IGF-I levels; adult height and head circumference SD score carriers was -2.5 and -1.8 (-1.6 and 0.3 in non-carriers) Diagnosis/Initial - Inheritance Familial, autosomal dominant 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 International Created by Johan den Dunnen Date created 2017-03-10 16:11:46 +01:00 (CET) Date last edited N/A

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