Phenotype #0000256876

Individual ID 00361471
Associated disease ?
Diagnosis/Initial polyneuropathy
Diagnosis/Definite -
Phenotype details see paper; ..., OFC 52.5cm (10th), length 141cm (50th), weight 46.2kg (50th), BMI 18.83; delayed motor milestones, y-walk with aid; 3y-delayed speech development; severe cognitive delay, severe intellectual disability; strabismus, limited abduction both eyes with narrowing pupil's fissure (Duane syndrome Type 1); dysarthria; no scoliosis; limping gait Spasticity in the ankles; MRI head normal; seizure disorder, resolved with time; ADHD; no lower limb sensory problems
Inheritance Familial, autosomal recessive
Age/Examination 11y (11 years)
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Protein -
Tumor/MSI -
Diagnosis/Criteria -
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 2021-04-07 09:00:28 +02:00 (CEST)
Date last edited N/A

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