Phenotype #0000341593

Individual ID 00452943
Associated disease EDSCL1
Diagnosis/Initial classic EDS, ?vascular EDS
Diagnosis/Definite EDSCL1
Phenotype details Iliac artery aneurysm (HP:4000067), incisional hernia (HP:0004872), bruising susceptibility (HP:0000978), soft doughy skin (HP:0001027), hyperextensible skin (HP:0000974), blue sclerae (HP:0000592), joint hypermobility (HP:0001382), pectus excavatum (HP:0000767).
Inheritance Familial, autosomal dominant
Age/Examination 34y (34 years)
Age/Diagnosis 46y
Age/Onset -
Phenotype/Onset Iliac artery aneurysm HP:4000067 at age 40 and 46.
Owner name Deepak Subramanian
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Deepak Subramanian
Date created 2024-08-07 15:12:04 +02:00 (CEST)
Date last edited 2024-11-04 11:54:00 +01:00 (CET)

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