Global Variome shared LOVD

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Phenotype #0000357865 Individual ID 00473070 Associated disease MYOP Diagnosis/Initial metabolic myopathy Diagnosis/Definite - Phenotype details onset 1-month; Short stature; Growth retardation; Seizures; Depressed nasal bridge; Broad nasal tip; Midface hypoplasia, mild; Bow shaped lip; Deep set eyes; Mild cardiac hypertrophy & SDS; Hepatomegaly; Prominent abdomen; Hypoglycemia; Inguinal hernia, bilateral; Hx of vomiting & diarrhea; Elevated level of SGOT, SGPT, CPK, LDH & Aldolase; Abdomen & pelvis ultrasound suggestive of GSD and LSD. Inheritance Unknown Age/Examination 3y (3 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 2026-03-06 17:24:40 +01:00 (CET) Date last edited N/A

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