Global Variome shared LOVD

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Phenotype #0000239726 Individual ID 00315981 Associated disease ? Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite - Phenotype details see paper; ..., failure to thrive; bilateral microphthalmia; left eye iris coloboma, chorioretinal; bilateral pigmentary changes in retina (severe), optic nerve hypoplasia;rigft eye persistent pupillary membrane (Wachendorf membrane); motor delay; speech delay; attention deficit, hyperactivity, repetitive movements, no interest in social interaction; hypotonia; cardiac defect; no kidney anomaly; Microcephaly; thin upper lip; bilateral 2-3 toe syndactyly Inheritance Isolated (sporadic) Age/Examination 02y02m (2 years, 2 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Tumor/MSI - Diagnosis/Criteria - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2020-11-01 10:06:29 +01:00 (CET) Date last edited 2022-11-30 19:42:11 +01:00 (CET)

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