Global Variome shared LOVD

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Phenotype #0000351401 Individual ID 00466016 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., polyhydramnios, fetal kidney malformation; birth-36w, 2,720g; height +1.3 SD, weight -0.5 SD, OFC -2.5 SD; severe developmental delay; 3y-walk with support; speech vocalization, bi-syllabic words; hemiplegic episodes; agitation; 2m-seizures, alternating hemiplegia; MRI brain 1y/5y-abnormal frontal folding, vermis hypoplasia; horseshoe kidney; three ventricular septal defects, vena cava duplication; no ophthalmologic features; no reproductive organ anomaly Inheritance Familial, autosomal recessive Age/Examination 5y6m (5 years, 6 months) 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 2025-07-07 15:05:37 +02:00 (CEST) Date last edited N/A

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