Phenotype #0000058791

Individual ID	00074612
Associated disease	PVNH4
Phenotype details	5y diagnosed with EDS based on soft and slightly hyperextensible skin, diaphragmatic eventration, umbilical hernia, joint hypermobility (Beighton score 8/9); mild pectus carinatum, mild lumbar scoliosis; normal palate/uvula; normal wound healing, normal scarring, normal bruising, no joint dislocations; EMG and elastin staining skin biopsy normal; 15y-MRI paucinodular PH,headaches, episodes of dizziness/poor balance, no associated cortical malformations; early childhood development, subsequent learning, intelligence, mainstream school progress normal; ECG mild mitral valve prolapse with thickened mitral valve leaflets, normal aortic valve, aortic diameter sinuses level of Valsalva 31mm (normal range 28mm); MRA cerebral arteries normal; 16y-admitted for spontaneous pneumothorax
Diagnosis/Initial	-
Inheritance	Familial, X-linked
Diagnosis/Definite	-
Age/Examination	16y (16 years)
Age/Diagnosis	05y
Age/Onset	-
Phenotype/Onset	-
Protein	-
Owner name	M Walsh
Database submission license	No license selected
Created by	Johan den Dunnen
Date created	2016-07-30 15:44:45 +02:00 (CEST)
Date last edited	2016-07-30 16:07:58 +02:00 (CEST)

Global Variome shared LOVD