Global Variome shared LOVD

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Phenotype #0000330252 Individual ID 00047956 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite CSS1 Inheritance Isolated (sporadic) Phenotype details birth 39w+4;severe intellectual disability; no speech; coarse facial features; thick eyebrows; no low frontal hairline; no hypertrichosis; no joint laxity; no brachydactyly; no brachydactyly fifth finger; hypoplastic nails; no hypoplastic nail fifth finger; atrial septum defect; sparse hair; no nail growth; unilateral single palmar crease; 4y-nephrocalcinosis Age/Examination 02y (2 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2023-11-01 18:22:43 +01:00 (CET) Date last edited N/A

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