Phenotype #0000084242

Individual ID 00106438
Associated disease MYOP
Phenotype details cap myopathy; pregnancy reduced fetal movements; birth weight 3160g, 39w, caesarian section; respiratory efforts (1h intubated), weak cry, low hairline, micrognathia, high arched palate, single palmar crease, long fingers, undescended testes; GJ tube and tracheostomy; 4y11m-hypotonic, generalized muscle atrophy, muscle strength MRC2/5 (upper)/1/5 (lower extremities), absent deep tendon reflexes; died cardiac arrest
Diagnosis/Initial -
Inheritance Isolated (sporadic)
Diagnosis/Definite -
Age/Examination 5y (5 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2010-04-10 20:07:13 +02:00 (CEST)
Date last edited 2012-03-09 19:17:22 +01:00 (CET)

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