Phenotype #0000256869

Individual ID 00361464
Associated disease ?
Diagnosis/Initial polyneuropathy
Diagnosis/Definite -
Phenotype details OFC 55.8cm (50th), length 143.3cm (<1), weight 40kg (<1); delayed motor milestones, 3y-walk; 4y-delayed speech development; Moderate ID; strabismus; dysarthria; no scoliosis; lower limb weakness, feet equinovarus, hammer toes; MRI head cerebral atrophy
Inheritance Familial, autosomal recessive
Age/Examination 21y (21 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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