Phenotype #0000054270

Individual ID 00074418
Associated disease MPMCD
Phenotype details congenital cataract (HP:0000519), progressive axial hypotonia (HP:0008936), unilateral ptosis (HP:0007687), slight sensorineural hearing loss (HP:0000407), diffuse muscle hypotrophy (HP:0003202), hypotonia (HP:0001252), low serum ferritin (HP:?)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 07y (7 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-07-02 11:36:04 +02:00 (CEST)
Date last edited N/A

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