Global Variome shared LOVD

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Phenotype #0000119745 Individual ID 00147028 Associated disease ID Diagnosis/Initial intellectual disability Diagnosis/Definite NDAGSCW Inheritance Isolated (sporadic) Phenotype details height 152 cm (-1 SD), weight 47.8 kg (+1.5 SD), OFC 49 cm (-3 SD); severe/profound intellectual disability; no speech; 3y-walk; childhood hypotonia (HP:0001252); ataxia, broad-based gait; nystagmus (HP:0000639); mild hypermetropia; strabismus; delayed visual maturation; mild, non-progressive developmental hip dysplasia; tapering fingers; pes cavus; shortened achilles tendons; prominent steloideus ulnae; drooling; Simean crease; neonatal feeding difficulties Age/Examination 13y (13 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 09:19:41 +01:00 (CET)

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