Phenotype #0000228729
| Individual ID |
00301629 |
| Associated disease |
EDS |
| Inheritance |
Familial, autosomal recessive |
| Diagnosis/Initial |
musculocontractural EDS |
| Age/Examination |
23y (23 years) |
| Diagnosis/Definite |
EDSMC1 |
| Age/Onset |
- |
| Phenotype/Onset |
- |
| Phenotype details |
see paper; ..., blue sclerae; telecanthus/hypertelorism; downâslanting palpebral fissures; short palpebral fissures; no short nose with hypoplastic columella; long philtrum; no thin upper lip vermilion; palatal abnormalities; small mouth; microretrognathia; midfacial hypoplasia; ear deformities; no flexed/adducted thumbs; talipes equinovarus; contractures fingers; joint hypermobility; kyphoscoliosis; tapering fingers / toes; joint dislocations; congenital hip dislocation; hyperextensible skin; large, subcutaneous haematoma; atrophic scarring; fine palmar creases; myopia; retinal detachment; microcornea; no cardiovascular abnormalities; cryptorchidism |
| Hearing/Loss |
- |
| Protein |
- |
| CK-level |
- |
| EMG |
- |
| Muscle/Biopsy |
- |
| Age/Diagnosis |
- |
| Owner name |
Sofie Symoens |
| Database submission license |
Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International |
| Created by |
Johan den Dunnen |
| Date created |
2020-05-19 18:48:52 +02:00 (CEST) |
| Date last edited |
N/A |
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