Global Variome shared LOVD

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Phenotype #0000308058 Individual ID 00416291 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite NEDBEH Phenotype details see paper; ..., no developmental delay/intellectual disability/autism; no hypotonia; no structural eye anomalies; no sensorineural hearing loss; no choanal atresia; no congenital heart defects; multiple urinary tract infections first few months of life, radiographic studies no hydronephrosis, no vesicoureteral reflux; no scoliosis Inheritance Isolated (sporadic) Age/Examination 8m 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 2022-08-26 11:54:41 +02:00 (CEST) Date last edited N/A

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