Phenotype #0000295907

Individual ID 00403164
Associated disease EDS
Inheritance Familial, autosomal recessive
Diagnosis/Initial Ehlers-Danlos syndrome
Age/Examination 4y (4 years)
Diagnosis/Definite EDSMC2
Age/Onset 00y00m00d
Phenotype/Onset -
Phenotype details small mouth/micro-retrognathia (infancy); hypertelorism; 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 InternationalCreative Commons License
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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