Global Variome shared LOVD

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Phenotype #0000236654 Individual ID 00311407 Associated disease ? Diagnosis/Initial microcephaly, intellectual disability Diagnosis/Definite - Phenotype details microcephaly, OFC 48 cm (<-3SD), small stature (130 cm, <−3SD), low body weight (30.5 kg, <−3SD), microcephaly, moderate mental retardation; speaks only single words with ambiguous pronunciation; scoliosis, congenital amblyopia resulting from chorioretinal degeneration Inheritance Familial, autosomal dominant Age/Examination 15y (15 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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