Global Variome shared LOVD

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Phenotype #0000254906 Individual ID 00359633 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details length 145 cm 14y (-2.5 SD), OFC 50 cm 12y (-2.6 SD); no facial dysmorphisms; 1y-walk, normal ambulation; 2y-first words, 14y-normal speech; 14y-read and write with difficulties; normal vision; noral hearing; mild intellectual disability; rare febrile seizures, generalized seizure (fever induced); EEG-slightly abnormal Inheritance Familial, autosomal recessive Age/Examination 14y (14 years) Age/Diagnosis - Age/Onset 4y 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 2021-04-03 15:08:35 +02:00 (CEST) Date last edited N/A

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