Phenotype #0000357007

Individual ID 00472198
Associated disease EMARDD
Phenotype details Generalized amyotrophy * Long face * Hypomimic face * Ptosis Abnormality of the voice * Scoliosis * Spinal rigidity * Equinus calcaneus * Velopharyngeal insufficiency * Gastroesophageal reflux * Motor delay * Abnormality of the musculature of the neck * Neonatal hypotonia
Diagnosis/Initial Congenital myopathy
Inheritance Isolated (sporadic)
Diagnosis/Definite Congenital myopathy
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 2026-01-15 15:08:10 +01:00 (CET)
Date last edited 2026-02-06 10:21:15 +01:00 (CET)

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