Global Variome shared LOVD

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Phenotype #0000350396 Individual ID 00464373 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRD50 Inheritance Isolated (sporadic) Phenotype details see paper; ..., (growth parameters); mild ataxia (HP:0001251); moderate intellectual disability (HP:0002342) (TIQ 51); autism spectrum disorder (HP:0000729); difficulty speech (HP:0002465); no seizures; MRI brain moderate cerebellar atrophy (HP:0001272), thin corpus callosum (HP:0002079),mild atrophy of the left hippocampus (HP:0007367); hypertonia (HP:0001276); hypertelorism (HP:0000316), low-set ears (HP:0000369), overfolded helices (HP:0000396), brachycephaly (HP:0000248), broad nose tip (HP:0000455), prominent upper lip (HP:0000215), fetal pads on fingertips (HP:0001212); atrial ectopic (multifocal) tachycardia (HP:0011701) treated with verapamil, hypertension (HP:0000822); easy fatiguability (HP:0003388) Age/Examination 17y (17 years) Age/Diagnosis - Age/Onset 12y 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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