Phenotype #0000352781

Individual ID 00467571
Associated disease SMA
Phenotype details see paper; ..., severe; 30m-deceased; hoarseness of voice; joint pain, joint contractures; subcutaneous nodules; pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, no seizures
Diagnosis/Initial spinal muscle atrophy with progressive myoclonic epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite SMAPME
Age/Examination -
Age/Diagnosis 28m
Age/Onset 16m
Phenotype/Onset -
Protein -
Owner name Mohamed A. Elmonem
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-22 09:49:32 +02:00 (CEST)
Date last edited N/A

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