Global Variome shared LOVD

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Phenotype #0000350422 Individual ID 00464399 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); motor delay (HP:0001270), 2y-walk; moderate-severe intellectual disability; parental concerns on autism spectrum disorder; speech delay (HP:0000750, 8y-short sentances; no seizures; normal muscle tone; straight eyebrows, square jaw but looks similar to mother/sister; no cardiavacular anomalies; patellar dislocation (HP:0002999), sarcoral dimple (HP:0000960), talipes (HP:0001883); premature adenarche, anteriorly placed anus (HP:0001545) Age/Examination 8y (8 years) Age/Diagnosis - Age/Onset <0d 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 2025-03-08 17:44:25 +01:00 (CET) Date last edited N/A

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