Phenotypes for disease #00783 (PVNH4 (heterotopia, periventricular, Ehlers-Danlos variant, type 4 (PVNH-4)), OMIM:300537)

17 entries on 1 page. Showing entries 1 - 17.
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Individual ID     
0000024773 skin hyperelasticity, joint hypermobility, elbow and scapulohumeral dislocation, subarachnoid haemorrhage, hiatus hernia, mitral prolapse - - Familial - - - - - Yu Sun 00028751
0000024774 skin hyperelasticity, joint hypermobility, shoulder and knee dislocations, high arched palate, lumbar scoliosis, pectus excavatum - - Familial - - - - - Yu Sun 00028752
0000024775 skin hyperelasticity, joint hypermobility, knee dislocations, bilateral inguinal hernias, pyloric stenosis, high arched palate, lumbar hyperlordosis - - Familial - - - - - Yu Sun 00028753
0000024884 - - - Isolated (sporadic) - - - - - Yu Sun 00028747
0000024885 - - - Isolated (sporadic) - - - - - Yu Sun 00028748
0000024886 ### - - Isolated (sporadic) - - - - - Yu Sun 00028749
0000058791 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 - - Familial, X-linked 16y 05y - - - M Walsh 00074612
0000073493 joint hypermobility (7/9) (HP:0001382), seizures (HP:0001250), pulmonary root dilatation (HP:0004927), normal aorta (-HP:0001679), normal valves (-HP:0001654), thin skin with visible vessels (HP:0000963), no abnormalities craniofacial (-HP:0000271, -HP:0000234) - - Isolated (sporadic) - - >00y - - Johan den Dunnen 00095101
0000073494 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) - - Familial, X-linked dominant - - ? - - Johan den Dunnen 00095100
0000073495 Generalised joint laxity (HP:0002761), no seizures (-HP:0001250), Dilatation Aorta ascendens (HP:0005111), Thin skin (HP:0000963), Abnormality of the aortic valve (HP:0001646), Patent ductus arteriosus (ligated at 0y3m)(HP:0001643), Cognitive impairment (HP:0100543) - - Familial, X-linked recessive - - ? - - Johan den Dunnen 00095102
0000073496 joint hypermobility (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia, mitralic valve prolapse (HP:0001634), ventriculomegaly (HP:0002119), soft thin skin (HP:0000963), normal elasticity, normally healed scars, agenesis of corpus collosum (HP:0001338), cognitive impairment (HP:0100543) - - Familial, X-linked recessive 15y - 0 - - Johan den Dunnen 00095103
0000073499 Congenital hip dysplasia (HP:0001385), JH (8/9) (HP:0001382), Seizures (HP:0001250), periventricular nodular heterotopia (HP:0007165), Aortic root dilatation (HP:0002616), pulmonary artery dilatation (HP:0004927), Mild skin thinning (HP:0000963), ‘criss crossing’ of palmar skin (HP:0011356), Non-dysmorphic (-HP:0001999) , Umbilical hernia (HP:0001537) - - Familial, X-linked dominant - - ? - - Johan den Dunnen 00095106
0000073500 joint hypermobility (HP:0001382), no dislocations (-HP:0001373), joint pain (HP:0002829), aortic aneurysm (HP:0004942), sinus of valsalva aneurysm (HP:0011645), diffuse ectasia (HP:?), normal valves (-HP:0001654), easy bruising (HP:0000978), soft skin (HP:0000977), normal wound healing (-HP:0001058), normal scars (HP:0001075, HP:0001073), no skin hyperextensibility (-HP:0000974), stretch marks (HP:0001065), normal palate (-HP:0000174), single uvula (HP:0000172), no dysmorphic features (-HP:0001999) - - Familial, X-linked dominant - - <38y - - Johan den Dunnen 00095099
0000073503 no abnormality of habitus (HP:0004323), joint hypermobility (HP:0001382), seizures (HP:0001250), periventricular heterotopia (HP:0002282), mitral valve prolapse (HP:0001634), thin skin (HP:0000963), doughy skin (HP:0001027), no skin hyperextensibility (-HP:0000974), no poor wound healing (-HP:0001058), non dysmorphic face (-HP:0001999), high arched palate (HP:0002705), supraumbilical hernia (HP:0001537); brain MRI periventricular heterotropia (PH); ECG prolapse mitral valve; 8y supra-umbilical hernia repaired; 1m small atrial septal defect; normal wound healing - - Familial, X-linked dominant 10y - 00y01m - - Johan den Dunnen 00095107
0000073504 Joint laxity (HP:0002761), No seizure (HP:0001250), Periventricular heterotopia (HP:0002282), Hypoplasia of corpus callosum (HP:0007370), Syringomyelia (HP:0003396), Dilation of ascending aorta (HP:0005111), Dilation of abdominal aorta (HP:0005112), Dysplastic aortic (HP:0005176), Dysplastic mitral valve (HP:0001633), Dysplastic tricuspid valves (HP:0001702), Tortuous supra-aortic vessels , Elastic skin (HP:0000974), Non dysmorphic face (HP:0001999), Normal palate (HP:0000174), Intestinal malrotation (HP:0002566), Abnormality of elastic fibers - - Familial, X-linked dominant - - 00y00m? - - Johan den Dunnen 00095108
0000073508 no joint hypermobility, seizures, periventricular nodular heterotopia, ECG normal, thin skin, normal scar formation, non-dysmorphic, - - Unknown 41y - - - - Johan den Dunnen 00095113
0000106397 PVNH myxomatous and prolapsed mitral valve with moderate regurgitation tricuspid aortic valve prolapse with mild regurgitation brachycephaly, telecanthus, epicanthal folds, periorbital fullness and infraorbital creases bilaterally and low-set, posteriorly rotated ears skin laxity Increased mobility across all joints brachydactyly with proximally placed thumbs, flat feet with sandal gap and medially deviated great toes tall vertebral bodies - - Isolated (sporadic) - 04y - - - Elyssa Cannaerts 00133647
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