Global Variome shared LOVD

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Phenotype #0000325820 Individual ID 00435636 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., motor delay, non-ambulant; no speech; intellectual disability; seizures, developmental and epileptic encephalopathy; no ophthalmologic abnormalities; hypotonia; MRI brain abnormal lateral ventricles (contour, septum pellucidum cyst), focal dysgyria, velum interpositium cyst, increased csf spaces at the temporal poles, flattening of corpus callosum; scoliosis, small feet; prominent maxilla/upper lip; no micrognathia; long ears Inheritance Isolated (sporadic) Age/Examination 4y (4 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 2023-08-06 22:51:48 +02:00 (CEST) Date last edited N/A

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