Global Variome shared LOVD

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Phenotype #0000337061 Individual ID 00447865 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite NEDBAF Phenotype details see paper; ..., ; abnormal tone; severe-profound intellectual disability; MRI brain structural abnormalities; no macro/microcephaly in childhood; no seizures; feeding difficulties; unilateral lambdoid craniosynostosis; severe scoliosis; no malignancy Inheritance Isolated (sporadic) Age/Examination 19y (19 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 2024-01-29 16:06:49 +01:00 (CET) Date last edited N/A

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