Global Variome shared LOVD

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Phenotype #0000355640 Individual ID 00470744 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite - Inheritance Familial, autosomal recessive Phenotype details see paper; ..., no global psychomotor developmental delay; failure to thrive; hypotonia; 14m-sit; 3y-walk; speech 13m-first words, very verbal; N (IQ 95-98 intellectual disability; autism spectrum disorder (Asperger); no epilepsy; EEG normal; triangular face, broad bone nasal bridge; no ophthalmological features; no skin lesions; short 5th digits, proximal insertion of thumbs; no skeletal abnormalities; no heart defect; normal kidney; no genital anomalies; growth hormone treatment; Specific learning disabilities, very talented for foreign languages' learning, congenital anal stenosis (dilated non operatively constipation now present) Age/Examination 14y (14 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 2025-12-08 15:51:34 +01:00 (CET) Date last edited N/A

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