Global Variome shared LOVD

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Phenotype #0000167710 Individual ID 00219164 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite MRX-102 Inheritance Unknown Phenotype details no decreased body weight (-HP:0004325); no macrocephaly (-HP:0000256); intellectual disability (HP:0001249), mild/moderate; hypotonia (HP:0001290); epilepsy +/- (HP:0001250); movement disorder (incl. spasticity) (HP:0100022); no abnormal behaviour (-HP:0000708); MRI no hypoplasia corpus callosum (-HP:0007370), no cortical malformation (-HP:0002539), no ventricular enlargement (-HP:0002119); skin abnormality (HP:0000951); hyperlaxity (HP:0001388); no visual problems (-HP:0000504); no hearing loss (-HP:0000365); no cleft lip or palate (-HP:0000202); no precocious puberty (-HP:0000826); no scoliosis (-HP:0002650) Age/Examination 12y (12 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 2019-02-06 21:03:42 +01:00 (CET) Date last edited 2019-02-06 21:10:16 +01:00 (CET)

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