Global Variome shared LOVD

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Phenotype #0000143925 Individual ID 00183171 Associated disease MRX;IDX Phenotype details see paper; ..., males mild intellectual disability (1/5)/moderate intellectual disability (3/5)/severe-profound intellectual disability (1/5), females mild intellectual disability (1/2); delayed speech (4/5); males no issues (3/5)/aggression (2/5)/repetitive autistic behaviors (1/5), females autistic features (1/2); seizures (1/5), absence (1/1), well controlled on monotherapy, 7ymedication ceased; EEG no epileptiform activity; infantile hypotonia (2/2); OFC 50th-97th centile, weight 75th-90th centile, length 25th->98th centile; long face (3/3), flat midface; (1/3) prominent chin (2/3), deep-set eyes (1/3), lean body habitus (2/3) Diagnosis/Initial mental retardation Inheritance Familial, X-linked recessive Diagnosis/Definite - Age/Examination - Age/Diagnosis - Age/Onset - Phenotype/Onset - Birth_Details - Protein - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2018-10-14 12:07:53 +02:00 (CEST) Date last edited 2022-12-09 15:41:20 +01:00 (CET)

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