Global Variome shared LOVD

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Phenotype #0000356812 Individual ID 00472003 Associated disease NDD Diagnosis/Initial neurodevelopmental disorder Diagnosis/Definite - Phenotype details see paper; ..., brith 41w; no developmental delay; no intellectual disability; speech delay; no autism; hypotonia; no seizures; EEG normal; MRI/CT left small rudimental eye with unrecognizable optic nerve, left lateral ventricular dilatation; neonatal period hypotonia of upper limbs, hypertonia lower limbs; unilateral anophthalmia (left), hypoplasic eyebrow (left), facial asymetry, retrognathia, eversion of lower lip, posterior plagiocephaly (left), broad forehead, bulging forehead; plagiocephaly (suspected); no cardiac anomalies; unilateral kidney agenesis (left); sensorineural hearing loss; unilateral anophthalmia (left) Inheritance Isolated (sporadic) Age/Examination 16m 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 2026-01-05 12:55:15 +01:00 (CET) Date last edited N/A

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