Phenotype #0000270395

Individual ID 00375185
Associated disease MEOAL;MMDS8
Phenotype details see paper; ..., reluctance to stand and walk unsupported, speech acquisition delay; no intellectual disability; no seizure; muscle weakness; tremor; dysmetry; adiadochokinesia; walking disturbance; ophthalomology normal; tightness Achilles tendons; raised CK (5420 IU/L; 3y6m-MRI hypoplasia cerebellar vermis and hemispheres
Diagnosis/Initial -
Inheritance Familial, autosomal recessive
Diagnosis/Definite MMYAT
Age/Examination 03y06m (3 years, 6 months)
Age/Diagnosis -
Age/Onset 01y
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 2021-05-28 19:41:07 +02:00 (CEST)
Date last edited 2021-05-28 21:17:11 +02:00 (CEST)

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