Global Variome shared LOVD

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Phenotype #0000296528 Individual ID 00403848 Associated disease NDD Diagnosis/Initial pyruvate kinase deficiency Diagnosis/Definite NEDMIGS Phenotype details weight 13 - 16th centile, height 89.5 cm (3rd percentile) 45.5 cm (< 3rd percentile); global developmental delay, failure to thirve; severe intellectual disability; IQ <20; severe axial and appendicular hypotonia with poor interactions; no epilepsy; MRI brain unremarkable apart from small arachnoid cyst seen along the anterolateral surface of the left cerebellar hemisphere in the posterior fossa; Mongolian spots skin; dysmorphism; strabismus, gray sclera; Inheritance Familial, autosomal recessive Age/Examination 3y6m (3 years, 6 months) Age/Diagnosis - Age/Onset - Phenotype/Onset - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-24 15:46:26 +01:00 (CET) Date last edited N/A

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