Phenotype #0000319078

Individual ID 00428160
Associated disease SMALED
Diagnosis/Initial spinal muscular atrophy lower extremity predominant
Diagnosis/Definite SMALED2
Phenotype details see paper; ..., 11m-died; antenatal arthrogryposis, postnatal hypotonia, generalized and respiratory weakness, joint deformities particularly affecting lower limbs, poor swallow; 5m-cataracts, ERG abnormal, visual evoked potentials, global developmental impairments
Inheritance Isolated (sporadic)
Age/Examination 00y11m (11 months)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
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 2022-12-22 17:22:16 +01:00 (CET)
Date last edited N/A

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