Global Variome shared LOVD

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Phenotype #0000302899 Individual ID 00410808 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., developmental delay, complications pregnancy; birth 36w; neonatal complications; failure to thrive; truncal overweight; mild/moderate intellectual disability/developmental delay; motor delay; speech delay; behavioral disorders; hypotonia; no seizures; MRI brain abnormal; no hearing loss; vision problems; cardiac anomalies; no urogenital anomalies; no kidney anomalies; polycystic spleen; scoliosis; no pectus deformity; genu varum, equinovarus; facial features Inheritance Unknown Age/Examination 18y (18 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 2022-05-30 15:22:01 +02:00 (CEST) Date last edited 2023-05-05 16:55:59 +02:00 (CEST)

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