Phenotype #0000054271

Individual ID 00074417
Associated disease MPMCD
Phenotype details psychomotor delay (HP:0001263), progressive visual deficit (HP:0000529), retinal detachment (HP:0000541), severe visual impairment (HP:0001141), severe progressive hearing loss (HP:0001730), bilateral ptosis (HP:0001488), generalized muscular hypotonia (HP:0001290), lower limb hypotrophy (HP:0008944), rotatory nystagmus (HP:0001583), no proximal (-HP:0003701) and distal muscle weakness (-HP:0002460), reduced tendon reflexes (HP:0001315), hypoferritinemia (HP:?), hyperamylasemia (HP:?), hyperCKemia (HP:?), thin corpus callosum (HP:0002079)
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination 17y (17 years)
Age/Diagnosis -
Age/Onset 00y01m
Phenotype/Onset axial hypotonia (HP:0008936), congenital cataract (HP:0000519)
Protein -
Owner name Jamie Zeegers
Database submission license No license selected
Created by Johan den Dunnen
Date created 2016-07-02 11:38:50 +02:00 (CEST)
Date last edited N/A

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