Global Variome shared LOVD

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Phenotype #0000321955 Individual ID 00431361 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details weight -0.69, height -0.5; motor delay (HP:0001270); 5y-walk; severe intellectual disability (HP:0001249); language delay (HP:0000750), no speech; aggressivity, frustration intolerance self- injury; no neurological features; coarse facies, thin upper lip, epicanthus synophrys; scoliosis, 5th finger clinodactyly, transverse palmar crease; MRI brain normal Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset - Phenotype/Onset - Protein - Owner name Fernanda Soledad Jalil Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-10-14 11:22:32 +02:00 (CEST) Date last edited N/A

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