Phenotype #0000352768

Individual ID 00301412
Associated disease SMAPME
Phenotype details see paper; ..., moderate; no hoarseness of voice; no joint pain, no joint contractures; no subcutaneous nodules; no pulmonary disease, no cardiac disease; no organomegaly; normal fundus; developmental delay, seizures
Diagnosis/Initial spinal muscle atrophy with progressive myoclonic epilepsy
Inheritance Familial, autosomal recessive
Diagnosis/Definite SMAPME
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Johan den Dunnen
Database submission license Creative Commons Attribution 4.0 InternationalCreative Commons License
Created by Johan den Dunnen
Date created 2025-10-22 08:56:23 +02:00 (CEST)
Date last edited 2025-10-22 09:39:10 +02:00 (CEST)

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