Phenotype #0000073494

Individual ID 00095100
Associated disease PVNH4
Phenotype details no abnormalities aorta (-HP:0001679), aneurysm right subclavian artery (HP:0002617), no abnormalities valves (-HP:0001654), easy bruising (HP:0000978), soft skin (HP:0000977), normal wound healing (-HP:0001058), normal scars (-HP:0000987), no skin hyper extensibility (-HP:0008067), single uvula (-HP:0000172), normal palate (-HP:0008067), no dysmorphic features (-HP:0001999), normal habitus (-HP:0004323), joint hypermobility (7/9) (HP:0001382), no dislocations (-HP:0001373), joint pain (HP:0002829), normal genetic bone survey (HP:0000924), no seizures (-HP:0001250), periventricular nodular heterotopia (HP:0007165)
Diagnosis/Initial -
Inheritance Familial, X-linked dominant
Diagnosis/Definite -
Age/Examination -
Age/Diagnosis -
Age/Onset ?
Phenotype/Onset -
Protein -
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 2016-09-22 22:41:26 +02:00 (CEST)
Date last edited 2016-09-27 08:59:32 +02:00 (CEST)

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