Phenotype #0000339512

Individual ID 00450452
Associated disease SPG
Phenotype details see paper; ..., developmental delay, spasticity, ataxia, muscle weakness, learning and speech abnormalities, mild-scoliosis; 22m-speeak, 29m-walk; IQ59, mild intellectual disability last examination, delayed fine motor skills, delayed motor skills, spasticity, sleeping distress.
Diagnosis/Initial spastic paraplegia
Inheritance Familial, autosomal recessive
Diagnosis/Definite SPG89
Age/Examination 14y (14 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
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 2024-05-27 09:25:31 +02:00 (CEST)
Date last edited N/A

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