Phenotype #0000357078

Individual ID 00472268
Associated disease LGMDR10;LGMD2J
Phenotype details 0002349: Simple partial seizure, 0001319: Neonatal hypotonia, 0030799: Scaphocephaly, 0001357: Plagiocephaly, 0000316: Hypertelorism, 0002650: Scoliosis, 0001618: Dysphonia, 0003398: Neuromuscular junction abnormality
Diagnosis/Initial Congenital myastenic syndrome
Inheritance Isolated (sporadic)
Diagnosis/Definite CMYO5
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Camille Verebi
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Camille Verebi
Date created 2026-01-20 16:31:33 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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