Global Variome shared LOVD

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Phenotype #0000295905 Individual ID 00403162 Associated disease EDS Inheritance Familial, autosomal recessive Diagnosis/Initial Ehlers-Danlos syndrome Age/Examination 11y (11 years) Diagnosis/Definite EDSMC2 Age/Onset 00y00m00d Phenotype/Onset - Phenotype details small mouth/micro-retrognathia (infancy); hypertelorism; down-slanting palpebral fissures; broad tall nasal bridge; long philtrum and/or thin upper lip vermilion; no congenital multiple contractures; talipes equinovarus; no spinal deformities; long slender fingers; joint hypermobility; feet surgery performed; no skin hyperextensibility; no skin bruisability; no skin fragility; no atrophic scars skin; mild hypertropia; no hearing impairment; no hypotonia; no motor developmental delay Hearing/Loss - Protein - CK-level - EMG - Muscle/Biopsy - Age/Diagnosis - Owner name Johan den Dunnen Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 International Created by Johan den Dunnen Date created 2022-02-17 17:05:14 +01:00 (CET) Date last edited N/A

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