Phenotype #0000256874
| Individual ID |
00361469 |
| Associated disease |
? |
| Diagnosis/Initial |
polyneuropathy |
| Diagnosis/Definite |
- |
| Phenotype details |
see paper; ..., OFC 46cm (< 5th), length 95cm (10th–25th), weight 12kg (< 3rd), BMI 13.3 (< 5th); no delayed motor milestones, 14m-walk; delayed speech development, make 4 word sentence, most words are clear; mild intellectual disability; normal eye movements; no dysarthria; no scoliosis; no lower limb weakness, no feet equinovarus, no hammer toes; protruding ears, mild hypermobility of joints, skeletal survey normal except for hind foot deformity; no upper limb atrophy (distal/proximal), normal upper limb tone, no lower limb weakness, normal upper limb reflexes, no upper limb sensory problems, no hand deformity, no lower limb atrophy (distal/proximal), normal lower limb tone, lower limb weakness (distal/proximal), feet dorsiflexion, normal lower limb reflexes, no lower limb sensory problems, bilateral talipes equinovarus more in L>R, foot deformity gives unsteady and side foot walk when running only, no spasticity, no ataxia |
| Inheritance |
Familial, autosomal recessive |
| Age/Examination |
4y6m (4 years, 6 months) |
| 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 International |
| 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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