Phenotype #0000333045

Individual ID 00443771
Associated disease -
Phenotype details Psychomotor retardation, cognitive impairment, seizures, spasticity, dystonia, chorea, ophthalmoparesis, bulbar signs, skeletal muscle atrophy, microcephaly, scoliosis, hypertrichosis
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Owner name Ece Sonmezler
Database submission license Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 InternationalCreative Commons License
Created by Ece Sonmezler
Date created 2023-12-01 13:46:32 +01:00 (CET)
Date last edited 2023-12-04 08:48:26 +01:00 (CET)

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