Choose UMD databases to use for this analysis:
APC ATP7B BRCA1 BRCA2 CDH23 CFTR COL3A1 CSA CSB DFNB1-GJB2 DMD DNM2 DPYD DYSF EMD F7 FBN1 FBN2 LDLR LMNA MEN1 MLH1 MSH2 MSH6 MYO7A PCDH15 PTCH1 SMN1 TGFBR1 TGFBR2 THAP1 TP53 USH1C USH1G USH2A USH3A VHL Choose Phenotype(s) for this analysis: A ----------------------------------------------------------------ability to stand on heelsability to stand on tip toesAble to climb stairsAble to climb stairs ?able to climb stairs with or without aidAble to control head positionAble to raise the hand up to the headAble to raise the hand up to the mouthAble to readAble to rise from the floorAble to rise from the floor ?Able to rise the arms over headAble to runAble to run ?Able to sit (Y, N, UK)Able to sit by himselfAble to sit by himself ?Able to standAble to stand (Y, N, UK)Able to stand from sitting position without helpAble to stand from sitting position without help ?Able to stand sitting without helpAble to walkAble to walk ?AbnormalAbnormal ST/T-segment on last ECGAbnormal tendon reflexesAbsence of autonomous breathingabsolute value of VCAcanthosis NigricansAcute pancreatitisage at biopsyage at first use of wheelchairage at investigationAge at last examinationAge at last follow-upAge at last neurological examinationAge at onsetAge at sittingage at the highest valueage at the last investigationage at the last valueage at the lowest valueAge at walkingAge of 1st clinical signAge of 1st medical adviceAge of 1st medical advice : [age] in years /UK)Age of CKAge of clinical diagnosisAge of deathAge of first orthosesAge of heart transplantationAge of ICD implantationAge of initiating physical therapyAge of last documented ECGAge of last documented echocardiographyAge of last documented forced vital capacityAge of last documented Holter MonitoringAge of LVEF< 60-55%Age of mechanical ventilationAge of onsetAge of pacemaker implantationAge of presentationAge of respiratory insufficiency discoveryAmyotrophy as symptom of onsetAngiomaAnkle extensors contracturesAnkle flexors contracturesAnkles / Feet Surgeryanterior compartment of the legsanterior compartment of the thighsanterior thighs hypodensityAnxietyAnxiety disorderArmasymmetry at onsetAsymptomaticAtrial dilatation on last echocardiographyAtrial fibrillation on last ECGAtrial flutter / other atrial arrhythmias on last ECGAttention deficit / Hyperactivity disorderAutismAutistic disorderAutistic syndromeAxial muscle weaknessAxial WastingAxial weakness B ----------------------------------------------------------------Behavioural psychotic problemsBehavioural hyperkinetic problemsBehavioural psychotic problemsBest motor function achievedbiceps atrophybiceps brachii hypodensitybiceps brachii R/Lbiceps en boulesBiliary lithiasisBiopsyBiopsy available (Y, N, UK)brachioradialis R/LBrain imageBranch blocks on last ECGbulbar weakness C ----------------------------------------------------------------C-Aneurysm asc.aortaC-Aortic regurgitation (m/-)C-Aortic root aneurysm (m/-)C-Aortic root dilation (M/M)C-Aortic root dissection (M/M)C-Aortic root replacementC-Aortic valve insufficiencyC-Aortic valve prolapseC-ArhythmiaC-Atrial septal defectC-BicuspidyC-BradycardyC-CardiomegalyC-Congestive heart failureC-Coronary artery aneurysmC-Dilated aortaC-Dilated aortic rootC-Dilation asc. aorta (M/M)C-Dilation desc. aorta (-/m)C-Dilation of ascen. aortaC-Dilation of atriaC-Dilation pulmonary art. (-/m)C-Dissecting aneurysmC-Dissection abdominal aorta (M/m)C-Dissection asc. aorta (M/M)C-Dissection desc. Aorta (M/m)C-Dysrythmia (m/-)C-Enlarged aoric rootC-Enlarged heartC-Incomplete descriptionC-Mitral endocarditisC-Mitral regurgitationC-Mitral valve insufficiencyC-Mitral Valve ProlapseC-Mitral valve prolapse (m/m)C-Mixomatous mitral valveC-Multiple aneurysmsC-Myocardial massC-Pulmonary emphysemaC-Pulmonary valve insufficiencyC-Thoracic des. aorta neurysmC-Tricuspid regurgitationC-Tricuspid valve insufficiencyC-Tricuspid valve prolapseC-Ventricular hypertrophyC-Ventricular septal defectc.835-?_885*3+?del calpaïn 30kDa bandcalpaïn 60kDa bandcalpaïn 94kDa bandCalves hypertrophyCardiac disease as symptom of onsetCardiac SeverityCardiomyopathyCause of deathcaveolincaveolin 3Cell LineCell Line numberCentral apneaCervical cord cystic tumorChest deformityChewing difficulties and/or trismusChronic pain requiring the use of antalgic drugCHRPECKCK highest valueCK last valueCK lowest valueClimbing stairs acquiredClinical heart failureClinical signs of cardiac rhythm abnormalitiesClinical symptoms of heart failureClinical symptoms of respiratory failureCNS-Dural ectasia (M/M)CNS-Enlarged cisterna magna (m/-)CNS-Lombosacral meningocele (m/-)CNS-Mental retardationCNS-Verbal expression pb (m/-)CNS-Widening of the lumbosacral canalCochin hospital record numberCommentsComments #1Comments #2Comments #3Comments #4Complete absence of functional mouvementsComplete Progeroid featuresconduction disturbances on ECG and/or holter ECGCongenital or early contracturesConsanguinityConvulsionCranialCurative treatment with ACE inhibitorsCurrent cardiac medicationCurrent CK levelCurrent steroid therapyCurrently able to sit without supportCurrently able to walkCystadenomas epididymis D ----------------------------------------------------------------Date of biopsy (dd/mm/yyyy)Date of birthDate of last follow-upDaytime urinary abnormalitiesDaytime urinary continence acquired after 3 years oldDaytime urinary incontinenceDeathDeep Brain StimulationDelay language developmentDelayed motor milestonesDelayed motor milestones as symptom of onsetdeltoid R/LDepressionDepressive disorderDiagnosisDiagnostic circumstancesdifficulties in climbing stairsDifficulties in climbing stairs as symptom of onsetDifficulties in gymnastic as symptom of onsetdifficulties in rising from a chair or from the grounddifficulties in runningdifficulties in standing on tip toesDiffuse lower limb weaknessDiffuse muscle hypertorphyDiffuse muscle hypertrophyDiffuse muscle weaknessDiffuse upper limb weaknessDiffuse WastingDigestive perforationDisease durationDisease progressiondistaldistal atrophy of the ULDistal lower limb WastingDistal muscle weaknessDistal upper limb Wastingdistal wastingDiurnal desaturationDiurnal hypercapniaDorsal kyphosisDorsal lordosisDual energy X-ray absorptiometry : lumbar spine Z scoreDual energy X-ray absorptiometry : total body Z scoreDual energy X-ray absorptiometry: lumbar spine Z scoreDual energy X-ray absorptiometry: total body Z scoreDysarthriadysferlin banddysferlin stainingDysmorphic featuresDyspneaDyspnea as symptom of onset E ----------------------------------------------------------------early* contracturesEchographic LVEF after 50 yearsEchographic LVEF after 50 years oldEchographic LVEF before 6 years oldEchographic LVEF between 10 - 11 yearsEchographic LVEF between 10 - 11 years oldEchographic LVEF between 11 - 12 yearsEchographic LVEF between 11 - 12 years oldEchographic LVEF between 12 - 13 yearsEchographic LVEF between 12 - 13 years oldEchographic LVEF between 13 - 14 yearsEchographic LVEF between 13 - 14 years oldEchographic LVEF between 14 - 15 yearsEchographic LVEF between 14 - 15 years oldEchographic LVEF between 15 - 16 yearsEchographic LVEF between 15 - 16 years oldEchographic LVEF between 16 - 17 yearsEchographic LVEF between 16 - 17 years oldEchographic LVEF between 17 - 18 yearsEchographic LVEF between 17 - 18 years oldEchographic LVEF between 18 - 19 yearsEchographic LVEF between 18 - 19 years oldEchographic LVEF between 19 - 20 yearsEchographic LVEF between 19 - 20 years oldEchographic LVEF between 20 - 25 yearsEchographic LVEF between 20 - 25 years oldEchographic LVEF between 25 - 30 yearsEchographic LVEF between 25 - 30 years oldEchographic LVEF between 30 - 40 yearsEchographic LVEF between 30 - 40 years oldEchographic LVEF between 40 - 50 yearsEchographic LVEF between 40 - 50 years oldEchographic LVEF between 6 - 8 years oldEchographic LVEF between 8 - 10 yearsEchographic LVEF between 8 - 10 years oldEKG HolterElbows contracturesElbows contractures as symptom of onsetElbows SurgeryElectroretinogramElevated CK as symptom of onsetEmerinEndolymphatic Sac TumorEpileptic seizuresEssential hand tremorEthnic / Geographic OriginEthnic origin specifyExtracolonic lesions F ----------------------------------------------------------------FaceFacial diplegiafacial weaknessFat accumulation at the neckFat accumulation at the shouldersFibrosisfinger extensors R/Lfinger flexors R/LFingers extensors contracturesFingers flexors contracturesFirst orthosesFirst use of wheelchairFluctuations of blood pressureFluctuations of heart rateFootFracture of long bonesFracture of long bones : lower limbFracture of long bones : upper limbFracture of long bones: lower limbFracture of long bones: upper limbFracture of lower limb long bonesFracture of upper limb long bonesFrequent chest infectionsfrequent fallsFrequent falls as symptom of onsetFundoplication to decrease gastroesophageal refluxFVC <30%FVC after 30 years oldFVC after 50 years old - %FVC after 50 years old - mlFVC after 50 years old -%FVC after 50 years old - %FVC after 50 years old - mlFVC before 10 yearsFVC before 8 years oldFVC before 8 years old - %FVC before 8 years old - mlFVC betweed>1110FVC between 8 - 10 years oldFVC between 8 - 10 years old - %FVC between 8 - 10 years old - mlFVC between 10 - 11 years oldFVC between 10 - 11 years old - %FVC between 10 - 11 years old - mlFVC between 10 - 11 years old -%FVC between 11 - 12 years oldFVC between 11 - 12 years old - %FVC between 11 - 12 years old - mlFVC between 11 - 12 years old -%FVC between 11 - 12 years old -mlFVC between 12 - 13 years oldFVC between 12 - 13 years old - %FVC between 12 - 13 years old - mlFVC between 12 - 13 years old -%FVC between 13 - 14 years oldFVC between 13 - 14 years old - %FVC between 13 - 14 years old - mlFVC between 14 - 15 years oldFVC between 14 - 15 years old - %FVC between 14 - 15 years old - mlFVC between 15 - 16 years oldFVC between 15 - 16 years old - %FVC between 15 - 16 years old - %FVC between 15 - 16 years old - mlFVC between 16 - 17 years oldFVC between 16 - 17 years old - %FVC between 16 - 17 years old - mlFVC between 17 - 18 years oldFVC between 17 - 18 years old - %FVC between 17 - 18 years old - mlFVC between 18 - 19 years oldFVC between 18 - 19 years old - %FVC between 18 - 19 years old - mlFVC between 19 - 20 years oldFVC between 19 - 20 years old - %FVC between 19 - 20 years old - mlFVC between 20 - 25 years oldFVC between 20 - 25 years old - %FVC between 20 - 25 years old - mlFVC between 25 - 30 years oldFVC between 25 - 30 years old - %FVC between 25 - 30 years old - mlFVC between 3 - 4 years old - %FVC between 3 - 4 years old - mlFVC between 30 - 40 years old - %FVC between 30 - 40 years old - mlFVC between 30 -40 years old - %FVC between 30 -40 years old - mlFVC between 4 - 5 years old - %FVC between 4 - 5 years old - mlFVC between 40 - 50 years old - %FVC between 40 - 50 years old - mlFVC between 40 -50 years old - %FVC between 40 -50 years old - mlFVC between 5 - 6 years old - %FVC between 5 - 6 years old - mlFVC between 6 - 7 years old - %FVC between 6 - 7 years old - mlFVC between 7 - 8 years old - %FVC between 7 - 8 years old - mlFVC between 8 - 9 years old - %FVC between 8 - 9 years old - mlFVC between 9 - 10 years old - %FVC between 9 - 10 years old - mlFVC betweeotor)FVC value >16 yearsFVC value between 10-16years G ----------------------------------------------------------------Gastric or colic dilatationGastric or colic dilationgastrocnemius R/LGastroesophageal reflux diseaseGastrostomyGeneralized muscle hypertrophyGH evaluationGlobal IQ scoregluteus atrophygluteus hypodensitygluteus maximus R/Lgluteus medius R/LGower's signGrowth retardation H ----------------------------------------------------------------hamstrings R/LHand tremorHas a muscle biopsy been takenHas ever been able to run?Head control acquiredHeart transplantationHemangioblastoma (CNS)Hepatic steatosisHigh degree AVB on last ECGHighest CK levelHighest or pre-operative scoliosis curvehip adductors R/LHip contracturesHip subluxation or luxationHolterHypercapniaHyperglycemiaHyperinsulinismhyperlordosisHyperlordosis age of onsetHyperlordosis as symptom of onsetHypertriglyceridaemia I ----------------------------------------------------------------If cerebral imaging is abnormal : specifyIf cerebral imaging is abnormal, specifyIf death, specify the causeIf electroretinogram is abnormal : specifyIf electroretinogram is abnormal, specifyIf gastric or colic dilatation, specify number of episodesIf gastric or colic dilation, specify number of episodesIf IQ test, specifyIf IQ test, specify Global IQ scoreIf IQ test, specify Performance IQ scoreIf IQ test, specify Verbal IQ scoreIf long bones fractures occurred : specify total number of fracturesIf long bones fractures occurred, specify total number of fracturesIf mechanical ventilation specify mode of ventilationIf mechanical ventilation, specify mode of ventilationIf mechanical ventilation, specify total duration of ventilation at last examinaIf no IQ test, clinical classificationIf no IQ test: clinical classificationIf nocturnal desaturations, total timeIf normal and/or motor education : specify maximal achieved education levelIf normal and/or motor education : specify years of delay in schoolIf normal and/or motor education: specify maximal achieved education levelIf normal and/or motor education: specify years of delay in schoolIf pain, specify localisationIf scoliosis, specify highest or pre-operative scoliosis curveIf seizures, specify frequencyIf seizures, specify international classification of epilepsyIf seizures, specify International Classification of Epilepsy typeIf seizures, specify seizures frequencyIf seizures, specify seizures typeIf seizures, specify typeIf steroïd therapy, specify total duration in monthsIf wheelchair is used : specify way of useiliopsoas R/LIncomplete clinical descriptioninducing factorsinflammatory changesinfrasupinatus R/LInguinal herniaInitial symptomInsulin resistanceInternal Cardioverter Defibrillator implantationInternational classification of epilepsyInvasive ventilationIQ testis muscle pain exercise related J K ----------------------------------------------------------------Knee extensors contracturesKnee flexors contractures L ----------------------------------------------------------------L-Apical blebs (m/m)L-hemidiaphragm eventrationL-PneumectomyL-Pulmonary emphysemaL-Spontaneous pneumothorax (m/m)Language impairmentLarynxLast documented forced vital capacityLast FVCLast LVEFLeft armLeft legLeglegs atrophyLegs muscle hypertrophylegs posterior compartment hypodensityLimb muscles fasciculationsLimbs lipodystrophyLipodystrophy features as symptom of onsetlobulated fiberslobulated type I fibersLoss of ambulationLost of normal lumbar lordosisLower limb contractureslower limb weaknessLVEF - 14 yearsLVEF after 30 yearsLVEF after 50 yearsLVEF before 8 years oldLVEF before 8tr>LVEF between 11 - 12 yearsLVEF between 10 - 11 yearsLVEF between 11 - 12 yearsLVEF between 12 - 13 yearsLVEF between 13 - 14 yearsLVEF between 14 - 15 yearsLVEF between 15 - 16 yearsLVEF between 16 - 17 yearsLVEF between 17 - 18 yearsLVEF between 18 - 19 yearsLVEF between 18 - 19 yeartr>LVEF between 20 - 25 yearsLVEF between 19 - 20 yearsLVEF between 20 - 25 yearsLVEF between 25- 30 yearsLVEF between 25- 30 yearsLVEF between 30 - 40 yearsLVEF between 40 - 50 yearsLVEF between 8- 10 yearsLVEF on echocardiographyLVEF on last echocardiographyLW on last ECG M ----------------------------------------------------------------MACMAC deposit on fibers membraneMacroglossiaMaximal achieved education levelMaximal achieved educdMecanical insufflation-exsufflationMechanical ventilationMedical treatment of psychological disordersMedical treatment of psychological problemsMental retardationMFM: last D3 scoreMFM: last D1 scoreMFM: last D2 scoreMFM: last D3 scoreMFM: last Total scoreMHC-IMicrocephalyMisdiagnosisMorphotypeMorphotype : weight > 10 years after loss of walkMorphotype : weight > 10 yeheight between birth and loss of walkMorphotype : height > 10 years after loss of walkMorphotype : height between birth and loss of walkMorphotype : height between loss of walk and 10 years laterMorphotype : weight between 5 years and 10 years after loss of walk :Morphotype : weight between 5 years and 10 years after loss of walk : Morphotype : weight between birth and loss of walkMorphotype : weight between loss of walk and 5 years laterMorphotype: height > 10 years after loss of walkMorphotype: height between birth and loss of walkMorphotype: height between loss of walk and 10 years laterMorphotype: weight > 10 years after loss of walkMorphotype: weight after 50 years oldMorphotype: weight before 6 ytd>18,5Morphotype: weight between 0 - 1 year oldMorphotype: weight between 1 - 2 years oldMorphotype: weight between 10 - 11 yearsMorphotype: weight between 10 - 11 years oldMorphotype: weight between 11 - 12 years oldMorphotype: weight between 12 - 13 years oldMorphotype: weight between 13 - 14 years oldMorphotype: weight between 14 - 15 years oldMorphotype: weight between 15 - 16 years oldMorphotype: weight between 16 - 17 years oldMorphotype: weight between 17 - 18 years oldMorphotype: weight between 17 - 1s and 10 years after loss of walkMorphotype: weight between 18 - 19 years oldMorphotype: weight between 19 - 20 years oldMorphotype: weight between 2 - 3 years oldMorphotype: weight between 20 - 25 years oldMorphotype: weight between 25 - 30 years oldMorphotype: weight between 3 - 4 years oldMorphotype: weight between 30 - 40 years oldMorphotype: weight between 4 - 5 years oldMorphotype: weight between 40 - 50 years oldMorphotype: weight between 5 - 6 years oldMorphotype: weight between 5 years and 10 years after loss of walkMorphotype: weight between 6 - 7 years oldMorphotype: weight between 7 - 8 years oldMorphotype: weight between 8 - 9 years oldMorphotype: weight between 9 - 10 years oldMorphotype: weight between birth and loss of walkMorphotype: weight between loss of walk and 5 years laterMorphotyptd>ShortMotor difficulties in childhood or teenageMotor physiotherapyMotor retardationMuscle atrophyMuscle hypertrophymuscle painMuscle weakness or hypotonia localisationMuscular SeverityMyalgia as symptom of onsetmyogenic patternmyotilin N ----------------------------------------------------------------NeckNeck SurgeryNeck contracturesneck extensorsneck flexorsnecrosis, regenerationneurogenic patternNG2-CSPno clinical dataNo clinical data availableNocturnal desaturationsNocturnal enuresiaNocturnal hypercapniaNocturnal urinary continence acquired after 8 years oldNon invasive ventilation O ----------------------------------------------------------------O-Adhesion of iris with corneaO-AmblyopiaO-AphakiaO-AsthigmatismO-AstigmatismO-Bluish scleraeO-CataractO-ColobomaO-Congenital miosisO-Corneal detachmentO-Divergent strabismusO-Ectopia lentis (M/M)O-Flat cornea (<42 dp) (m/m)O-GlaucomaO-Incomplete descriptionO-Increased axial length of globe (m/m)O-IridodonesisO-Iris dilatator hypoplasia (-/m)O-Lens extractionO-MegalocorneaO-MicrophthalmusO-MicrospherophakiaO-MiosisO-MyopiaO-Myopia (m/-)O-No implicationO-Not examinedO-Peripheral iris atrophyO-Retinal ablationO-Retinal aplasiaO-Retinal degenerationO-Retinal detachment (m/-)O-Shallow anterior chambersO-SpherophakiaO-StrabismusObstructive apneaObstructive hydrocephalusOcular abnormalitiesocular weaknessonset spine rigidityOphtalmoplegiaOral communication abnormalitiesOtherOther affected family membersOther Associated Gene mutationother biopsyOther cardiotropic treatmentsOther CNS involving featuresother conditionsother contracturesother current featuresother featuresOther features as symptom of onsetother features on last ECGother features on last ECG #1other features on last ECG #2Other hypertrophied musclesother imagingOther minimal significant featuresOther minimal significant features #1Other minimal significant features #2other muscles hypertrophyOther Orthopaedic surgeriesOther suspected muscular dystrophiesother symptomsOther treatmentsOthers CNS involving featuresOthers SNC involving featuresOvarian dystrophy P ----------------------------------------------------------------P-Restricted pulmonary functionPace makerPacemaker implatationPainPain localisationPale optic discPalpitationsPancreas CystPancreatic cystsParoxysmal arrhythmia on last holter monitoringParoxysmal head shakepectoralis R/LPelvic obliquityPerformance IQ scorePeripheric nerve involvement: clinical signsPeripheric nerve involvement: electrophysiological disturbancesPermanent axial muscle weakness as symptom of onsetPermanent limbs muscle weakness as symptom of onsetperoneus longus R/LPhenotypePheochromocytomaPhysiotherapyPolyps numberposterior compartment of the legsposterior compartment of the thighsposterior thighs hypodensityPR interval on last ECGPremature auricular contractions on last ECGPremature ventricular contractions on last ECGPresence of FVC < 30 %Presence of LVEF < 55%Presentation at onsetPresyncopePreventive treatment with ACE inhibitorsPreventive treatment with ACE inhibitorsKProven Axonal NeuropathyproximalProximal lower limb / Pelvic Girdle WastingProximal lower limb weaknessProximal muscle weaknessProximal upper limb / Shoulder Girdle WastingProximal upper limb weaknessproximal wastingproximo-distalpsoas hypodensity Q R ----------------------------------------------------------------RCCRecord N*Recurrent dislocation of patellaReduced fetal movementsReduction in mouth openingRenal Cystrepeated twisted anklesRepolarization abnormalities on last ECGRespiratory physiotherapyRetinal hemangiomarhabdomyolysis: swelling and/or black urinesrhomboïd R/LRight armRight legRigid spine as symptom of onsetRunning acquiredrythm disturbances on ECG and/or holter ECG S ----------------------------------------------------------------S-Abnormal earsS-Abnormal faceS-Anterior beaking of vertebraeS-ArachnodactylyS-Arachnodactyly (m/M)S-Arched palateS-Arm span > heightS-Arm span/height >1.05 (-/M)S-Arthritis of hands and kneesS-Bilaterally dislocating patellaeS-Broad palateS-Broad prominent foreheadS-CamptodactylyS-Chest deformity (unspecified) (m/m)S-Chondromalacia PatellaeS-Cleft palateS-Congenital contracturesS-Congenital contractures of the elbowsS-Congenital contractures of the fingersS-Congenital contractures of the hipsS-Congenital contractures of the kneesS-Congenital contractures of the shouldersS-Congenital contractures of the toesS-Congenital contractures of the wristsS-Coxa valgaS-CraniosynostosisS-Crumpled earsS-Cubitus valgusS-Delay in motor developmentS-Dental crowdingS-Dental crowding (m/m)S-Disclocation of elbowsS-Dislocated patellaeS-Dolichocephalia (-/m)S-DolichostenomeliaS-Dolichostenomelia (m/-)S-Downward palpebral fissures (-/m)S-Enophthalmus (-/m)S-Flat feetS-Flat nasal rootS-Foot deformityS-Genu valgusS-Hypermobility of both thumbsS-Hypoplastic calfS-Incomplete descriptionS-Increased body lenghtS-Increased body length (m/-)S-Infantile hypotoniaS-Joint contractures (m/-)S-Joint contractures of the anklesS-Joint contractures of the elbowsS-Joint contractures of the fingersS-Joint contractures of the handsS-Joint contractures of the hipsS-Joint contractures of the kneesS-Joint contractures of the toesS-Joint contractures of the wristsS-Joint dislocationS-Joint hyper-mobility (m/m)S-Knees dislocationS-KyphoscoliosisS-KyphosisS-Kyphosis (m/-)S-Leg deformityS-Limited pro-/supination of the handsS-Long bone over growthS-Long, thin, narrow feetS-Lordosis (m/-)S-Low posterior hairlineS-Low-set earsS-Malar hypoplasia (-/m)S-MicrognathiaS-MicrognatiaS-Muscle hypoplasiaS-Muscular hypotoniaS-Narrow palatal arch (m/m)S-Narrow palateS-Orbital hypertelorismS-OsteopeniaS-Pain in numerous joints, muscles, tendonsS-Patella dislocationS-Pectus carinatumS-Pectus carinatum (m/M)S-Pectus deformityS-Pectus excavatumS-Pectus excavatum moderate (m/m)S-Pectus excavatum severe (m/M)S-Pes planovalgusS-Pes planusS-Pes planus (-/M)S-Premature synostosis of the coronal suturesS-Prominent occiputS-Protusio acetabulæ (m/M)S-PterygiaS-PtosisS-Reduced extension of the elbows (-/M)S-Repeating twistsS-RetrognathiaS-Retrognathia (-/m)S-Round and flate faceS-ScoliosisS-Scoliosis (m/M)S-Short neckS-Short statureS-Slender limbsS-Thin and hyperelastic skinS-Thoracic scoliosisS-Thoracolumbar scoliosisS-Tight hamstringsS-Upturned noseS-US/LS ratio < 0.87S-US/LS ratio <0.87 (-/M)S-Valgus elbowSample IDscapular muscles hypodensityscapular wingingScoliosisScoliosis age of onset onsetScoliosis as symptom of onsetScoliosis surgerySe-Hearing lossSecondary contracturesSecondary optic atrophySeizuresSeizures frequencySeizures typeseratus anterior R/LSexShoukders contracturesshoulder girdle atrophySI-Bleeding tendencySI-Café-au-lait spotSI-Inguinal hernia (m/m)SI-Loose, redundant skinSI-Other herniae (m/m)SI-Skin hyperextensibilitySI-Striae distensaeSI-Striae distensae (m/m)SI-Tendency to ecchymosisSI-Translucent skinSI-Varicose veinsSigned up for other registriesSigns of heart failure on examinationsite of biopsySite of onset-FootSite of onset-Hand (writer's dystonia)Site of onset-Orofacial/OromandibularSitting acquisitionSitting without support acquiredSleep apneaSMA classificationsoleus R/LSpeechSpine extensors contracturesSpine rigiditySpine rigidity age of onsetSpine Surgeryspontaneous activitySpontaneous complete remission (honeymoon)Standing position without support acquiredStaturoponderal defectsteppageSteroïd therapyStiff neckStiff neck as symptom of onsetstill asymptomaticsub-scapular R/Lsuprasupinatus R/LSurgery of scoliosisSurgery to release contracturesSwallowing abnormalitiesSwallowing problemssymptom #1symptom #2Syncope T ----------------------------------------------------------------thighs atrophytibial anterior compartment hypodensitytibialis anterior R/Ltime to walk 10 meterstoe extensors R/LTongueTongue atrophy and/or fasciculationsTotal duration of ventilation at last examinationTotal Serum Calciumtr statiq rachTracheotomyTransit abnormalitiesTransit problemstrapezus R/LTreatement with B_/tr>Treatment with ACE inhibitorsTreatmentTreatment for constipationTreatment with beta-blockersTreatment with B-blo of educationTreatment with B-blockersTreatment with diureticstriceps brachii hypodensitytriceps brachii R/Ltriceps surae contracturesTrichloroethylene exposuretrunck extensorstrunck flexorsTrunck lipodystrophyTrunkTube for feedingTumor sizetype I fibers atrophyType of education U ----------------------------------------------------------------UL abduction amplitude R/LUL antepulsion amplitude R/LUpper limb contracturesupper limb weakness V ----------------------------------------------------------------VC percentage of the averageVentricular dilatation on last echocardiographyVentricular tachycardia on last ECGVerbal IQVerbal IQ scoreVertebral fracturesVitamin D W ----------------------------------------------------------------waddling gaitWalk before 18 mo (Y, N, UK)Walking abnormalities / difficulties as symptom of onsetWalking aloneWalking alone :Walking alone ?walking with aidwalking without aidWalking without support acquiredWalton score at last examinationwheelchair indoorwheelchair outdoorWheelchair usewrist extensors R/Lwrist flexors R/L X Y Z ----------------------------------------------------------------20- Maj 2a3.b.a Aortic sinuses22- Maj 2a3.b.c Horizontal aorta24- Maj 2a3.c Other/ Specification25- Maj 2a4. Torso-Abdomen26- Maj 2a4.a Abdominal aorta27- Maj 2a4.b Abdominal aorta:celliac28- Maj 2a4.c Abdominal aorta: splenic29- Maj 2a4.d Abdominal aorta: common hepatic