Global Variome shared LOVD

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Phenotype #0000346994 Individual ID 00458563 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDGFC Phenotype details see paper; ..., height 134cm (Z-4.8), weight 32kg (Z-3.9), OFC 50.3cm (Z-3.8); no motor delay; mild intellectual disability (IQ68); muscular hypotonia; no seizures; no behavioural problems; thin stretched corpus callosum; craniofacial dysmorphism; clinodactyly 4th/5th toes; growth hormone deficiency; anaemia Inheritance Familial, autosomal recessive Age/Examination 15y (15 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2024-12-18 21:38:12 +01:00 (CET) Date last edited N/A

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