Phenotype #0000311197

Individual ID 00419928
Associated disease CMYO4B
Phenotype details Failure to thrive (HP:0001508); high, narrow palate (HP:0002705); poor head control (HP:0002421); generalized hypotonia (HP0001290); respiratory insufficiency due to muscle weakness (HP:0002747); type 1 muscle fiber atrophy (HP:0011807); type 1 fibers relatively smaller than type 2 fibers (HP:0003755); nemaline bodies (HP:0003798); central nuclei (HP:0003687).
Diagnosis/Initial NEM
Inheritance Familial, autosomal recessive
Diagnosis/Definite NEM1
Age/Examination 00y ()
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Lydia Sagath
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Lydia Sagath
Date created 2022-10-26 10:36:47 +02:00 (CEST)
Date last edited 2022-10-27 09:19:56 +02:00 (CEST)

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