Global Variome shared LOVD

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Phenotype #0000343488 Individual ID 00454881 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite RENU Phenotype details see paper; ..., no intra-uterine growth retardation; short stature; microcephaly; severe global developmental delay; non-ambulatory; no speech; intellectual disability; no behavioral issues; self injury, marked insensitivity to pain; seizures (treatment-resistant seizure from age 7 years); MRI brain abnormal, ventriculomegaly, right hippocampal sclerosis Inheritance Isolated (sporadic) Age/Examination 29y (29 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 2024-09-30 10:26:47 +02:00 (CEST) Date last edited N/A

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