Phenotype #0000318992

Individual ID 00428046
Associated disease EDSSPD
Diagnosis/Initial Guiffre-Tsukahara syndrome
Diagnosis/Definite -
Phenotype details Prominent craniofacial abnormalities, scoliosis, fifth-finger clinodactyly, restricted elbow movement, joint hypermobility, barrel chest, soft/doughy skin.
Inheritance Familial, autosomal dominant
Age/Examination 7
Age/Diagnosis -
Age/Onset -
Phenotype/Onset -
Owner name Oumaima Nehaili
Database submission license Creative Commons Attribution-ShareAlike 4.0 InternationalCreative Commons License
Created by Oumaima Nehaili
Date created 2022-12-19 22:05:46 +01:00 (CET)
Date last edited 2022-12-20 15:42:23 +01:00 (CET)

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