Global Variome shared LOVD

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Phenotype #0000330191 Individual ID 00440294 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite CSS1 Phenotype details see paper; ..., birth 39w; intellectual disability.developmental delay; hypoplasia corpus callosum; no autism spectrum disorder; severe speech impairment; seizures; hypotonia; low hairline; low-set ears; broad nasal tip; hypertrichosis; pectus excavatum; joint laxity; cataracts Inheritance Isolated (sporadic) Age/Examination 10y (10 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 2023-10-31 19:36:26 +01:00 (CET) Date last edited N/A

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