Phenotype #0000337666

Individual ID 00448478
Associated disease NEM2
Phenotype details neonatal hypotonia (HP:0001319); lower limb muscle weakness (HP:0007340); prominent nose (HP:0000448); pes cavus (HP:0001761); hepatomegaly (HP:0002240); neonatal respiratory distress (HP:0002643); feeding difficulties in infancy (HP:0008872); delayed motor milestones (HP:0001270); failure to thrive (HP:0001508); areflexia (HP:0001284); dysarthria (HP:0001260); proximal muscle weakness (HP:0003701); type 1 muscle fiber predominance (HP:0003803); abnormality of skeletal muscle fiber size (HP:0012084)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite NEM2
Age/Examination -
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 2024-03-11 22:36:08 +01:00 (CET)
Date last edited 2025-08-11 10:05:10 +02:00 (CEST)

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