Global Variome shared LOVD

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Phenotype #0000119748 Individual ID 00147031 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NDAGSCW Inheritance Isolated (sporadic) Phenotype details height 141 cm (- 1.5 SD), weight 34.5 kg (+0.7 SD), OFC 50 cm (-2.2 SD); severe/profound intellectual disability; no speech; epilepsy; hypotonia (HP:0001252); spasticity (HP:0001257); dystonia; ataxia, broad-based gait; no nystagmus (-HP:0000639); hypermetropia; no strabismus; no developmental hip dysplasia; tapering fingers; Simean crease Age/Examination 11y (11 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 2017-12-29 15:16:49 +01:00 (CET) Date last edited 2023-11-01 09:20:52 +01:00 (CET)

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