Global Variome shared LOVD

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Phenotype #0000054238 Individual ID 00074420 Associated disease - Phenotype details adrenal insufficiency (HP:0000846), moderately cognitively delayed (HP:0001263), muscle weakness (HP:0001324), wide-based gait (HP:0002136), neck hyperextension (HP:?), truncal instability (HP:?), restrictive lung disease (HP:0002091), elevated plasma lactate levels (HP:?), Diagnosis/Initial - Inheritance Familial, autosomal recessive Diagnosis/Definite - Age/Examination 19y (19 years) Age/Diagnosis - Age/Onset - Phenotype/Onset lactic acidosis (HP:0003128), poor feeding (HP:0011968), irritability (HP:0000737), hepatomegaly (HP:0002240), bilateral cataracts (HP:0000519) Protein - Owner name Jamie Zeegers Database submission license No license selected Created by Jamie Zeegers Date created 2016-06-29 14:23:19 +02:00 (CEST) Date last edited 2016-07-02 11:25:58 +02:00 (CEST)

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