Global Variome shared LOVD

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Phenotype #0000210504 Individual ID 00275905 Associated disease NDD Diagnosis/Initial neurodevelopmental delay Diagnosis/Definite SNIBCPS Phenotype details global developmental delay; walk-1y6m; fine motor delay; Speech delay; Mild intellectual disability; normal weight; normal height; MRI-brain normal; no wide CSF spaces; no epilepsy, no seizures; not known; underbite; normal vision; aortic dilatation; undescended testes, orchidopexy performed; primary hypogonadism, malar hypoplasia. Also de novo mutation in CIC gene: NM_015125.3:c.1444G>T; p.(Glu482*) Inheritance Isolated (sporadic) Age/Examination 14y4m (14 years, 4 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 2020-01-20 21:55:37 +01:00 (CET) Date last edited N/A

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