Global Variome shared LOVD

LOVD v.3.0 Build 30b [ Current LOVD status ] Register as submitter | Log in

Phenotype #0000236653 Individual ID 00311406 Associated disease ? Diagnosis/Initial microcephaly, intellectual disability Diagnosis/Definite - Phenotype details microcephaly, OFC 47 cm (<−3SD), small stature (110 cm, <−3SD), low body weight (29 kg, <−3SD), microcephaly, moderate mental retardation; can not concentrate on work, speaks single words with ambiguous pronunciation; skeletal radiographs show delayed bone age Inheritance Familial, autosomal dominant Age/Examination 12y (12 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-09-24 18:43:56 +02:00 (CEST) Date last edited N/A

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