Phenotype #0000337663

Individual ID 00217165
Associated disease NEM
Phenotype details decreased fetal movement (HP:0001558); neonatal hypotonia (HP:0001319); multiple prenatal fractures (HP:0005855); hypotonia (HP:0001252); myopathic facies (HP:0002058); drooling (HP:0002307); gastrostomy tube feeding in infancy (HP:0011471); respiratory insufficiency due to muscle weakness (HP:0002747); feeding difficulties in infancy (HP:0008872); delayed speech and language development (HP:0000750); dysarthria (HP:0001260); 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-ShareAlike 4.0 InternationalCreative Commons License
Created by Lydia Sagath
Date created 2024-03-11 21:45:37 +01:00 (CET)
Date last edited 2026-02-13 09:46:30 +01:00 (CET)

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