MetaADEDB 2.0 @ LMMD
Dystonia Musculorum Deformans
(UMLS:C0013423)
Definition:
A condition characterized by focal DYSTONIA that progresses to involuntary spasmodic contractions of the muscles of the legs, trunk, arms, and face. The hands are often spared, however, sustained axial and limb contractions may lead to a state where the body is grossly contorted. Onset is usually in the first or second decade. Familial patterns of inheritance, primarily autosomal dominant with incomplete penetrance, have been identified. (Adams et al., Principles of Neurology, 6th ed, p1078)
UMLS ID:
C0013423
MeSH ID:
D004422
Classification 1:
Name:
Nervous System Diseases
MeSH Tree Number(s):
C10.228.140.079.357|C10.228.662.300.200|C10.574.500.393
Classification 2:
Name:
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
MeSH Tree Number(s):
C16.320.400.330
Synonym(s)
1.
Dystonia Musculorum Deformans
2.
Bilateral paraspasm syndrome
3.
DYSTONIA DEFORMANS PROGRESSIVA
4.
Dystonia Deformans Progressiva
5.
Dystonia deformans progressiva
6.
Dystonia lenticularis syndrome
7.
Dystonia musculorum deformans
8.
Genetic torsion dystonia
9.
Idiopathic Torsion Dystonia
10.
Idiopathic torsion dystonia
11.
Primary torsion dystonia
12.
Schwalbe disease
13.
Schwalbe-Ziehen-Oppenheim
14.
Schwalbe-Ziehen-Oppenheim disease
Associated Drug(s)
NameNumber of ReportsReference(s)Data Source
1Haloperidol4752335CTD
2Procyclidine4752335CTD
3Tetrabenazine4260957CTD
Similar ADE(s)
NameSemantic Similarity
1Multiple System Atrophy46.1%
2Meige Syndrome42.4%
3Huntington Disease42.2%
4Parkinsonian Disorders39.9%
5Parkinson Disease37.9%
6Lewy Body Disease37.8%
7Hepatolenticular Degeneration37.3%
8Lafora Disease36.1%
9Unverricht-Lundborg Syndrome36.1%
10Meningoencephalitis33.6%
11Encephalomyelitis32.2%
12Striatonigral Degeneration31.6%
13Progressive supranuclear palsy31.2%
14Canavan Disease30.2%
15Alexander Disease30.2%
16Basal Ganglia Cerebrovascular Disease29%
17Myotonia Congenita28.4%
18Friedreich Ataxia28.4%
19Shy-Drager Syndrome28.1%
20Prion Diseases27.8%
21Dandy-Walker Syndrome27.3%
22Pneumocephalus27.2%
23Subdural Effusion26.8%
24Neuroleptic Malignant Syndrome26.1%
25Myotonic Dystrophy25.8%
26Tuberous Sclerosis25.7%
27Cockayne Syndrome25.7%
28Ocular Motility Disorders25.7%
29Cyclophoria25.7%
30Neuronal Ceroid-Lipofuscinoses25.2%
31Amyotrophic Lateral Sclerosis24.9%
32Motor Neuron Disease24.7%
33Dementia, Vascular24.7%
34Subacute Combined Degeneration24.5%
35Epidural Abscess24.2%
36Myelitis24.2%
37Meningitis24%
38Pachymeningitis24%
39Spinal Cord Diseases24%
40MPTP Poisoning23.9%
41Asterixis23.8%
42Ballismus23.8%
43Spinal Muscular Atrophy23.6%
44Progressive Muscular Atrophy23.6%
45Charcot-Marie-Tooth Disease23.3%
46Brain Abscess23.2%
47Amyloid Neuropathies, Familial23.1%
48Stiff-Person Syndrome22.7%
49Akinetic Mutism22.4%
50Anoxic Encephalopathy22.4%
51Brain Damage, Chronic22.4%
52Cerebellar Diseases22.4%
53Encephalitis22.4%
54Encephalomalacia22.4%
55Epilepsy22.4%
56Hydrocephalus22.4%
57Congenital Hydrocephalus22.4%
58Hypothalamic Diseases22.4%
59Thalamic Diseases22.4%
60Intracranial Hypertension22.4%
61Aura22.4%
62Leukoencephalopathy22.4%
63Essential Tremor22.4%
64Neuroaxonal Dystrophies22.4%
65Familial Tremor22.4%
66Headache Disorders22.4%
67Intracranial Hypotension22.4%
68Brain Edema22.4%
69Brain Hypoxia22.4%
70Aqueductal Stenosis22.4%
71Alstrom Syndrome22.2%
72Posterior Leukoencephalopathy Syndrome22%
73Posterior reversible encephalopathy syndrome22%
74Refsum Disease21.6%
75Marchiafava-Bignami Disease21.5%
76Epilepsy, Post-Traumatic21.5%
77Torticollis21.3%
78Brain Injuries20.8%
79Central Nervous System Infection20.7%
80Brain Neoplasms20.7%
81Cerebral Ventriculitis20.7%
82Leukomalacia, Periventricular20.5%
83Limbic Encephalitis20.4%
84Basal Ganglia Hemorrhage19.9%
85Leukoencephalopathy, Progressive Multifocal19.6%
86Adrenoleukodystrophy19.5%
87Presenile dementia19.2%
88Senile dementia19.2%
89Cranial nerve diseases19.2%
90Demyelinating Diseases19.2%
91Demyelination19.2%
92Neuromuscular Diseases19.2%
93Chronobiology Disorders19.2%
94Poliomyelitis18.9%
95Myoclonic Epilepsy18.9%
96Epilepsy, Temporal Lobe18.9%
97Epilepsy, Rolandic18.9%
98Benign Rolandic Epilepsy18.9%
99Brain Diseases, Metabolic18.9%
100Cerebrovascular Disorders18.9%
101Cerebrovascular Insufficiency18.9%
102Dementia18.9%
103Vascular Headaches18.9%
104Hypoxia-Ischemia, Brain18.8%
105Lupus Vasculitis, Central Nervous System18.7%
106Tauopathies18.7%
107Spinal Cord Injuries18.6%
108Myelitis, Transverse18.6%
109Cerebellar Neoplasms18.6%
110Akathisia, Drug-Induced18.6%
111Myelinolysis, Central Pontine18.5%
112Ophthalmoplegic Migraine18.2%
113Brain Death18.1%
114Optic Atrophy, Hereditary, Leber17.9%
115Leukoencephalitis, Acute Hemorrhagic17.9%
116Creutzfeldt-Jakob disease17.8%
117Meningitis, Bacterial17.4%
118Meningitis, Fungal17.4%
119Opsoclonus-Myoclonus Syndrome17.2%
120Fragile X Syndrome17.1%
121Putaminal Hemorrhage16.9%
122Amblyopia16.9%
123Paraneoplastic Cerebellar Degeneration16.8%
124Restless Legs Syndrome16.8%
125Rett Syndrome16.5%
126Trauma, Nervous System16.5%
127Menkes Kinky Hair Syndrome16.4%
128Chronic Fatigue Syndrome16.4%
129Dyskinesia, Drug-Induced16.3%
130Polyradiculoneuropathy16.3%
131Polyradiculoneuritis16.3%
132Ataxia Telangiectasia16.2%
133Nervous System Neoplasms16.1%
134Neurologic Manifestations16.1%
135Neurotoxicity Syndromes16.1%
136Miller Fisher Syndrome16%
137Juvenile Myoclonic Epilepsy15.9%
138Myoclonic Epilepsies, Progressive15.9%
139Scrapie15.6%
140Myasthenic Syndromes, Congenital15.6%
141Chorea15.4%
142Progressive bulbar palsy15.4%
143Bulbar palsy15.4%
144Encephalomyelitis, Acute Disseminated15.3%
145Brain Hemorrhage, Traumatic15.2%
146Cerebral Palsy15%
147Epilepsies, Partial15%
148Epilepsy, Generalized15%
149Pseudotumor Cerebri15%
150Hypertensive Encephalopathy15%
151Simple Partial Seizures15%
152Epilepsy, Reflex15%
153Headache Disorders, Primary15%
154Headache Disorders, Secondary15%
155Medication overuse headache15%
156Spinal Cord Neoplasms15%
157Smith-Magenis syndrome15%
158Pituitary Adenoma14.9%
159Pituitary Neoplasms14.9%
160Carotid Artery Injuries14.7%
161Toxoplasmosis, Cerebral14.6%
162Lambert-Eaton Myasthenic Syndrome14.6%
163Arachnoiditis14.5%
164Aseptic Meningitis14.5%
165Syringomyelia14.5%
166Pneumorrhachis14.5%
167Autonomic Dysreflexia14.4%
168Complex Regional Pain Syndromes14.4%
169Brain Diseases, Metabolic, Inborn14.4%
170Vasculitis, Central Nervous System14.4%
171Aicardi's syndrome14.4%
172Pituitary Apoplexy14.3%
173Amnesia, Transient Global14.3%
174Brain Infarction14.2%
175Brain Diseases14%
176Movement Disorders14%
177Sleep Wake Disorders14%
178Brain Injuries, Diffuse14%
179Traumatic Brain Injury14%
180Cerebellar Ataxia13.9%
181Supratentorial Neoplasms13.9%
182Tuberculosis, Meningeal13.6%
183Mucopolysaccharidosis II13.6%
184Paraneoplastic Encephalomyelitis13.5%
185Infarction, Middle Cerebral Artery13.3%
186Infarction, Anterior Cerebral Artery13.3%
187Infarction, Posterior Cerebral Artery13.3%
188Persistent Vegetative State13.2%
189Pituitary Diseases13%
190Guillain-Barre Syndrome12.9%
191Fabry Disease12.6%
192Carotid Artery Diseases12.6%
193Brain Ischemia12.6%
194Cerebrovascular accident12.6%
195Kluver-Bucy Syndrome12.6%
196Vasospasm, Intracranial12.6%
197Intracranial Arterial Diseases12.6%
198Peripheral Nerve Injuries12.5%
199Central Nervous System Cysts12.4%
200Myasthenia Gravis12.4%
201Frontotemporal dementia12.3%
202MELAS Syndrome12.3%
203Central Nervous System Fungal Infections12.2%
204Conus Medullaris Syndrome12.2%
205Spinal Cord Vascular Diseases12.2%
206Muscular Dystrophy, Duchenne12.1%
207Cerebral Infarction11.9%
208Brain Stem Infarctions11.9%
209Muscular Dystrophy11.8%
210Central Cord Syndrome11.8%
211Moyamoya Disease11.6%
212Galactosemias11.5%
213Urea Cycle Disorders, Inborn11.5%
214Tyrosinemias11.5%
215Post-Traumatic Headache11.4%
216Tension Headache11.4%
217Epilepsy, Complex Partial11.4%
218Migraine Disorders11.4%
219Abdominal Migraine11.4%
220Status Migrainosus11.4%
221Cervicogenic Headache11.4%
222Tardive Dyskinesia11.3%
223Subacute Sclerosing Panencephalitis11.3%
224Causalgia11.2%
225Neuromyelitis Optica11.2%
226Cri-du-Chat Syndrome11.1%
227Down Syndrome11.1%
228Hydranencephaly11.1%
229Neural Tube Defects11.1%
230Tethered Cord Syndrome11.1%
231Iniencephaly11.1%
232Craniorachischisis11.1%
233Exencephaly11.1%
234Septo-Optic Dysplasia11.1%
235Cortical Dysplasia11.1%
236Sleep Disorders, Circadian Rhythm11.1%
237Malformations of Cortical Development11.1%
238Trisomy 2111.1%
239Olfactory Nerve Injuries11.1%
240Mitochondrial Encephalomyopathies10.9%
241Reye Syndrome10.8%
242Meningitis, Cryptococcal10.8%
243Botulism10.8%
244Holoprosencephaly10.8%
245Meningitis, Listeria10.8%
246Intracranial Embolism and Thrombosis10.7%
247Hepatic Encephalopathy10.7%
248Lateral Medullary Syndrome10.7%
249Meningitis, Haemophilus10.7%
250Meningitis, Pneumococcal10.7%
251Subarachnoid Hemorrhage, Traumatic10.7%
252Carotid Artery, Internal, Dissection10.7%
253Dysautonomia10.7%
254Vagus Nerve Disorder10.7%
255Glossopharyngeal Neuralgia10.7%
256Abducens Nerve Diseases10.7%
257Heavy Metal Poisoning, Nervous System10.7%
258Neuromuscular Junction Diseases10.7%
259Trochlear Nerve Diseases10.7%
260Peripheral Nervous System Diseases10.7%
261Diffuse Axonal Injury10.6%
262Brain Stem Neoplasms10.6%
263Central Nervous System Bacterial Infections10.6%
264CHARGE Syndrome10.5%
265Polyradiculoneuropathy, Chronic Inflammatory Demyelinating10.4%
266Neoplastic Syndromes, Hereditary10.3%
267Cystic Fibrosis10.3%
268Ichthyosis, X-Linked10.1%
269Homocystinuria10.1%
270Leigh Disease10%
271Multiple Epiphyseal Dysplasia10%
272Osteochondrodysplasias10%
273Pelger-Huet Anomaly10%
274Werner Syndrome10%
275Vertebral Artery Dissection10%
276Glycogen storage disease type II10%
277Albinism9.9%
278Anemia, Sickle Cell9.9%
279Thalassemia9.9%
280Prader-Willi Syndrome9.9%
281Facial Nerve Injuries9.9%
282Dystonia Musculorum Deformans9.8%
283Auditory Perceptual Disorders9.8%
284Brain Concussion9.7%
285Empty Sella Syndrome9.6%
286Hyperpituitarism9.6%
287Hypopituitarism9.6%
288Hypophysitis9.6%
289Cluster Headache9.6%
290Migraine with Aura9.6%
291Familial Hemiplegic Migraine9.6%
292Chronic Paroxysmal Hemicrania9.6%
293SUNCT Syndrome9.6%
294Paroxysmal Hemicrania9.6%
295Dural Arteriovenous Fistula9.5%
296Cerebral Arterial Diseases9.5%
297Vertebrobasilar Insufficiency9.5%
298Basilar Artery Stenosis9.5%
299Vertebral Artery Stenosis9.5%
300Intracranial Hemorrhage, Hypertensive9.5%
301Transient Cerebral Ischemia9.5%
302Horner Syndrome9.5%
303Beckwith-Wiedemann Syndrome9.4%
304Wolf-Hirschhorn Syndrome9.4%
305Classical Lissencephalies and Subcortical Band Heterotopias9.4%
306Williams Syndrome9.4%
307Multiple Sclerosis9.4%
308Brain Contusion9.3%
309Alice in Wonderland Syndrome9.3%
310Reflex Sympathetic Dystrophy9.3%
311Nocturnal Myoclonus Syndrome9.3%
312Duane Retraction Syndrome9.2%
313Nail-Patella Syndrome9.2%
314Zellweger Syndrome9.2%
315Myopathy9.2%
316Optic Neuropathy9.2%
317Facial Nerve Diseases9%
318Craniocerebral Trauma9%
319Parasomnia9%
320Dyssomnias9%
321Choroid Plexus Papilloma9%
322Kernicterus9%
323Rubinstein-Taybi Syndrome9%
324West Nile Fever8.9%
325Vestibulocochlear Nerve Diseases8.9%
326Decerebrate State8.9%
327Hemiparesis8.9%
328Meningism8.9%
329Paresis8.9%
330Seizures8.9%
331Sensation Disorders8.9%
332Central Nervous System Neoplasms8.9%
333Complex partial seizures8.9%
334Monoparesis8.9%
335Neurogenic Inflammation8.9%
336Gait Disorders, Neurologic8.9%
337Neuromuscular Manifestations8.9%
338Sweating, Gustatory8.8%
339Auriculotemporal Syndrome8.8%
340Dwarfism8.8%
341Myasthenia Gravis, Autoimmune, Experimental8.8%
342Carbamoyl-Phosphate Synthase I Deficiency Disease8.7%
343Basal Ganglia Diseases8.6%
344Writer's Cramp8.6%
345Osteogenesis Imperfecta8.5%
346Jet Lag Syndrome8.5%
347Wernicke Encephalopathy8.4%
348AIDS Dementia Complex8.3%
349Mobius Syndrome8.3%
350Ophthalmoplegia8.3%
351External Ophthalmoplegia8.3%
352Gaucher Disease8.2%
353Toxoplasmosis, Congenital8.2%
354Spinal Cord Ischemia8.2%
355Carotid Stenosis8.2%
356Intracranial Aneurysm8.2%
357Welander Distal Myopathy8.2%
358Giant Cell Arteritis8.1%
359Temporal Arteritis8.1%
360Intracranial Arteriosclerosis8.1%
361Cerebral Atherosclerosis8.1%
362Subarachnoid Hemorrhage8.1%
363Cerebral Arteriosclerosis8.1%
364Cerebral Hemorrhage8.1%
365Tuberculosis, Central Nervous System8.1%
366Kartagener Syndrome8.1%
367Cerebral Thrombosis8.1%
368Intracranial Embolism8.1%
369Intracranial Thrombosis8.1%
370Hyperprolactinemia8%
371Anencephaly8%
372Subclavian Steal Syndrome8%
373Pick Disease of the Brain8%
374Acrodynia7.9%
375Familial Mediterranean Fever7.9%
376Wiskott-Aldrich Syndrome7.9%
377Familial Periodic Paralysis7.9%
378Pupil Disorders7.8%
379Neurobehavioral Manifestations7.8%
380Uveomeningoencephalitic Syndrome7.6%
381Brachial Plexus Neuritis7.6%
382Neuralgic Amyotrophy7.6%
383Marfan Syndrome7.6%
384Sturge-Weber Syndrome7.6%
385Vertigo7.6%
386Alcohol-Induced Disorders, Nervous System7.6%
387Autoimmune Lymphoproliferative Syndrome7.6%
388Tay-Sachs Disease7.5%
389Vocal Cord Paralysis7.4%
390Angioedemas, Hereditary7.4%
391Ectodermal Dysplasia7.4%
392Aplasia Cutis Congenita7.4%
393Sickle Cell Trait7.3%
394Niemann-Pick Disease, Type C7.2%
395Smith-Lemli-Opitz Syndrome7.2%
396Meningomyelocele7.1%
397Spina Bifida7.1%
398Carotid Artery Thrombosis7.1%
399Neuroaspergillosis7%
400Hematoma, Subdural7%
401Hematoma, Epidural, Cranial7%
402Cerebrospinal Fluid Otorrhea6.9%
403Cerebrospinal Fluid Rhinorrhea6.9%
404Neuritis, Autoimmune, Experimental6.9%
405Gait Ataxia6.9%
406Acromegaly6.9%
407Coma, Post-Head Injury6.9%
408Deformity6.8%
409Cerebral Amyloid Angiopathy6.8%
410Sinus Thrombosis, Intracranial6.8%
411Voice Disorders6.8%
412Voice Disturbance6.8%
413Tarsal Tunnel Syndrome6.8%
414Cauda Equina Syndrome6.8%
415Kallmann Syndrome6.7%
416Sjogren-Larsson Syndrome6.6%
417Amino Acid Metabolism, Inborn Errors6.6%
418Carbohydrate Metabolism, Inborn Errors6.6%
419Metal Metabolism, Inborn Errors6.6%
420Progeria6.6%
421Lysosomal Storage Diseases6.6%
422Cytochrome-c Oxidase Deficiency6.6%
423Peroxisomal Disorders6.6%
424Neuritis6.6%
425Polyneuritis6.6%
426Radiculitis6.6%
427Polyneuropathy6.6%
428Mononeuritis6.6%
429Mononeuropathies6.6%
430Brachial Plexus Neuropathies6.6%
431Radiculopathy6.6%
432Mononeuropathy Multiplex6.6%
433Nerve Root Compression6.6%
434Alcohol Withdrawal Seizures6.5%
435Polycystic Kidney Diseases6.5%
436Multiple Sclerosis, Chronic Progressive6.5%
437Multiple Sclerosis, Relapsing-Remitting6.5%
438Primary Ciliary Dyskinesia6.5%
439Pseudorabies6.4%
440Anterior Spinal Artery Syndrome6.2%
441Akathisia6.2%
442Restlessness6.2%
443Psychomotor Agitation6.2%
444Congenital nystagmus6.2%
445Cavernous Sinus Thrombosis6.1%
446Sagittal Sinus Thrombosis6.1%
447Meningocele6.1%
448Encephalocele6.1%
449Neurosyphilis6.1%
450Optic Nerve Glioma6.1%
451Hematoma, Subdural, Intracranial6.1%
452Hematoma, Subdural, Chronic6.1%
453Hematoma, Subdural, Acute6.1%
454Retinal Dysplasia6%
455Aniridia6%
456Acute Chest Syndrome5.9%
457Hypokalemic periodic paralysis5.9%
458Epidermolysis Bullosa5.9%
459Reflex, Abnormal5.9%
460Hyporeflexia5.9%
461Hyperreflexia5.9%
462Carpal Tunnel Syndrome5.8%
463neurofibroma5.8%
464Sciatica5.8%
465Fetal Diseases5.7%
466Cutis Laxa5.7%
467Retinitis Pigmentosa5.7%
468Pigmentary retinopathy5.7%
469Porokeratosis5.7%
470Keratoderma, Palmoplantar5.7%
471Chronic granulomatous disease5.6%
472Gait Apraxia5.6%
473Myositis5.6%
474Optic Atrophy5.6%
475Optic Neuritis5.6%
476Papilledema5.6%
477Strabismus5.6%
478Tolosa-Hunt Syndrome5.6%
479Isaacs syndrome5.6%
480Arsenic Poisoning5.6%
481Myotonic Disorders5.6%
482Diabetic Neuropathies5.5%
483Facial Injuries5.5%
484Facial Neuralgia5.5%
485Diabetic Amyotrophy5.5%
486Diabetic Autonomic Neuropathy5.5%
487Sleep Talking5.5%
488Manganese Poisoning5.5%
489Sleep Disorders, Intrinsic5.5%
490Orthostatic intolerance5.5%
491Anosmia5.5%
492Ataxia5.5%
493Athetosis5.5%
494Catalepsy5.5%
495Dystonia5.5%
496Hemiplegia5.5%
497Locked-In Syndrome5.5%
498Meningeal Neoplasms5.5%
499Muscle Hypertonia5.5%
500Muscle hypotonia5.5%
501Myoclonus5.5%
502Myotonia5.5%
503Neuralgia5.5%
504Paraplegia5.5%
505Pseudobulbar Palsy5.5%
506Quadriplegia5.5%
507Spasm5.5%
508Spastic Paraplegia5.5%
509Status Epilepticus5.5%
510Taste Disorders5.5%
511Tremor5.5%
512Monoplegia5.5%
513Hypokinesia5.5%
514Paraparesis5.5%
515Bradykinesia5.5%
516Waxy flexibility5.5%
517Action Tremor5.5%
518Resting Tremor5.5%
519Dysosmia5.5%
520Quadriparesis5.5%
521Mercury Poisoning, Nervous System5.5%
522Olfaction Disorders5.5%
523Myokymia5.5%
524Lead Poisoning, Nervous System5.5%
525Vestibular Neuronitis5.5%
526Somatosensory Disorders5.5%
527Neuropathic pain5.5%
528Hyperkinesia5.5%
529Intention tremor5.5%
530Nelson Syndrome5.4%
531Lyme Neuroborreliosis5.4%
532Malaria, Cerebral5.4%
533Mucopolysaccharidosis III5.4%
534Prolactinoma5.3%
535Growth Hormone-Secreting Pituitary Adenoma5.3%
536Neurocysticercosis5.3%
537Hyperphosphaturia5.3%
538Waterhouse-Friderichsen Syndrome5.3%
539Dermal Sinus5.1%
540Spina Bifida Cystica5.1%
541Spina Bifida Occulta5.1%
542Lissencephaly5.1%
543Polymicrogyria5.1%
544Pachygyria5.1%
545Schizencephaly5.1%
546Periventricular Nodular Heterotopia5.1%
547Cubital Tunnel Syndrome5.1%
548Microcephaly5.1%
549Macrocephaly5.1%
550Acoustic Neuroma5%
551Porphyrias, Hepatic5%
552Peutz-Jeghers Syndrome4.9%
553Thrombasthenia4.9%
554Antithrombin III Deficiency4.9%
555Protein C Deficiency4.9%
556Afibrinogenemia4.9%
557Factor VII Deficiency4.9%
558Factor X Deficiency4.9%
559Factor XII Deficiency4.9%
560Hemophilia A4.9%
561Activated Protein C Resistance4.9%
562Factor II deficiency4.9%
563Factor VIII Deficiency4.9%
564Factor V deficiency4.9%
565Factor XI Deficiency4.9%
566Hypoprothrombinemias4.9%
567Hand-Arm Vibration Syndrome4.9%
568Fanconi Anemia4.9%
569Alkaptonuria4.9%
570Glycogen Storage Disease4.9%
571Hypophosphatasia4.9%
572Propionic acidemia4.9%
573Dihydropyrimidine Dehydrogenase Deficiency4.9%
574Cystinosis4.9%
575Anemia, Diamond-Blackfan4.9%
576Porencephaly4.9%
577Polycystic Kidney, Autosomal Dominant4.9%
578Pseudoxanthoma Elasticum4.8%
579Vision Disorders4.8%
580Metamorphopsia4.8%
581Visual Impairment4.8%
582Fibromyalgia4.8%
583Optic Neuropathy, Ischemic4.8%
584Anterior Ischemic Optic Neuropathy4.8%
585Medial Tibial Stress Syndrome4.8%
586Facial Hemiatrophy4.8%
587Melkersson-Rosenthal Syndrome4.8%
588Mitochondrial Myopathies4.8%
589Anisocoria4.7%
590Confusion4.7%
591Facial paralysis4.7%
592Lethargy4.7%
593Memory Disorders4.7%
594Muscle Cramp4.7%
595Perceptual Disorders4.7%
596Psychomotor Disorders4.7%
597Tonic Pupil4.7%
598Eosinophilia-Myalgia Syndrome4.7%
599Anhedonia4.7%
600Disorientation4.7%
601Facial Paresis4.7%
602Memory Loss4.7%
603Hemisensory Neglect4.7%
604Dysacusis4.7%
605Sleep Bruxism4.7%
606Muscular Atrophy4.7%
607Respiratory Paralysis4.7%
608Hyperkeratosis, Epidermolytic4.7%
609Tetany4.7%
610Sciatic Neuropathy4.6%
611Ulnar Neuropathies4.6%
612Lesion of Sciatic Nerve4.6%
613Ulnar Neuritis4.6%
614Radial nerve compression4.6%
615Radial Tunnel Syndrome4.6%
616Peroneal Neuropathies4.6%
617Radial Neuropathy4.6%
618Median Neuropathy4.6%
619Sciatic Nerve Palsy4.6%
620Femoral Neuropathy4.6%
621Tibial Neuropathy4.6%
622Ulnar Nerve Palsy4.6%
623Postural Orthostatic Tachycardia Syndrome4.6%
624Radial nerve palsy4.6%
625Meconium Aspiration Syndrome4.5%
626Multiple Endocrine Neoplasia4.5%
627POEMS Syndrome4.5%
628Xeroderma Pigmentosum4.4%
629Congenital Hypothyroidism4.4%
630Dermatitis, Atopic4.4%
631Antley-Bixler Syndrome Phenotype4.3%
632Hypolipoproteinemias4.2%
633Papillon-Lefevre Disease4.2%
634Consciousness Disorders4.2%
635Mental Retardation4.2%
636Muscle Weakness4.2%
637Depressed Level of Consciousness4.2%
638Mental deficiency4.2%
639Intellectual Disability4.2%
640Hyperlipidemia, Familial Combined4.2%
641Hyperlipoproteinemia Type III4.2%
642Xeroderma4.2%
643Bell Palsy4.2%
644Catatonia4.1%
645Herpes Zoster Oticus4.1%
646Aphonia4.1%
647Sleep Deprivation4.1%
648Dysphonia4.1%
649Glycogen Storage Disease Type I4.1%
650Glycogen Storage Disease Type V4.1%
651Basal Cell Nevus Syndrome4%
652Abdominal Cramps4%
653Abnormalities, Drug-Induced4%
654Amniotic Band Syndrome4%
655Asphyxia Neonatorum4%
656Infant, Premature, Diseases4%
657Situs Inversus4%
658Infantile Colic4%
659Behcet Syndrome4%
660Alexia3.9%
661Dyslexia3.9%
662Thoracic Outlet Syndrome3.9%
663Esotropia3.8%
664Exotropia3.8%
665Hypotension, Orthostatic3.8%
666Sleep Apnea Syndromes3.8%
667Polymyositis3.8%
668Post-Exercise Hypotension3.8%
669Kearns-Sayre syndrome3.8%
670Disorders of Excessive Somnolence3.8%
671Sleep Initiation and Maintenance Disorders3.8%
672Night Terrors3.8%
673Somnambulism3.8%
674Trigeminal Nerve Disorder3.8%
675Transient Insomnia3.8%
676Sleep Paralysis3.8%
677Chronic Insomnia3.8%
678REM Sleep Behavior Disorder3.8%
679Hypersomnia3.8%
680Dysgeusia3.8%
681Formication3.8%
682Hyperalgesia3.8%
683Hyperesthesia3.8%
684Hypesthesia3.8%
685Language Disorders3.8%
686Numbness3.8%
687Paresthesia3.8%
688Paraparesis, Spastic3.8%
689Trismus3.8%
690Epilepsia Partialis Continua3.8%
691Hypogeusia3.8%
692Meningeal Carcinomatosis3.8%
693Brown-Sequard Syndrome3.8%
694Lockjaw3.8%
695Allodynia3.8%
696Lead Poisoning, Nervous System, Childhood3.8%
697Lead Poisoning, Nervous System, Adult3.8%
698Ageusia3.8%
699Klinefelter Syndrome3.7%
700Lactose Intolerance3.7%
701Variegate Porphyria3.7%
702Acute intermittent porphyria3.7%
703Porphyria Cutanea Tarda3.7%
704Hyperhomocysteinemia3.7%
705Neurofibrosarcoma3.7%
706Myalgia3.7%
707Renal Aminoacidurias3.7%
708Fanconi Syndrome3.7%
709Pseudohypoaldosteronism3.7%
710Liddle Syndrome3.7%
711Hyperlipoproteinemia Type IV3.6%
712Hyperlipoproteinemia Type V3.6%
713Polyradiculopathy3.6%
714Hypoalphalipoproteinemias3.5%
715Eye Abnormalities3.4%
716Cardiovascular Abnormalities3.4%
717Hydrops Fetalis3.4%
718Turner Syndrome3.4%
719Skin Abnormalities3.4%
720Lymphatic Abnormalities3.4%
721Congenital Microtia3.4%
722Eye Injuries3.4%
723Anemia, Neonatal3.3%
724Persistent Fetal Circulation Syndrome3.3%
725Hoarseness3.3%
726Orbital Myositis3.3%
727Congenital diaphragmatic hernia3.3%
728Gout3.3%
729Umbilical hernia3.3%
730Diplopia3.3%
731Muscle Rigidity3.3%
732Muscle Spasticity3.3%
733Scotoma3.3%
734Photophobia3.3%
735Cogwheel Rigidity3.3%
736Hemifacial Spasm3.3%
737Amaurosis3.3%
738Blindness3.3%
739Nuchal Rigidity3.3%
740Pyomyositis3.3%
741Multiple Endocrine Neoplasia Type 13.3%
742Pseudohypoparathyroidism3.3%
743Alcohol Withdrawal Delirium3.3%
744Nephroblastoma3.3%
745Agnosia3.3%
746Apraxias3.3%
747Hallucinations3.3%
748Hemianopsia3.3%
749Hyperacusis3.3%
750Tinnitus3.3%
751Visual Agnosia3.3%
752Anosognosia3.3%
753Wernicke-Korsakoff Syndrome3.3%
754Phonophobia3.3%
755Hearing Loss3.3%
756Sarcopenia3.2%
757Renal tubular acidosis3.2%
758Cystinuria3%
759Adenomatous Polyposis Coli3%
760Familial Hypophosphatemic Rickets3%
761Sleep Apnea, Obstructive3%
762Sleep Apnea, Central3%
763Narcolepsy3%
764Trigeminal Neuralgia3%
765Kleine-Levin Syndrome3%
766Urogenital Abnormalities3%
767Agraphia3%
768Anomia3%
769Cluttering3%
770Language Development Disorders3%
771Speech Disorders3%
772Syncope3%
773Stupor3%
774Dysgraphia3%
775Presyncope3%
776Dyslalia3%
777Neonatal Abstinence Syndrome2.9%
778Maxillofacial Abnormalities2.9%
779Amnesia2.9%
780Delirium2.9%
781Dissociative Amnesia2.9%
782Color blindness2.9%
783Global Amnesia2.9%
784Dextrocardia2.9%
785Meningioma2.9%
786Fetal Growth Retardation2.9%
787Fetal Hypoxia2.8%
788Fetal Alcohol Spectrum Disorders2.8%
789Syphilis, Congenital2.8%
790Arthritis, Gouty2.7%
791Glycosuria, Renal2.6%
792Prune Belly Syndrome2.6%
793Twins, Conjoined2.6%
794Waardenburg Syndrome2.6%
795Eye Burns2.6%
796Cataplexy2.6%
797Aphasia2.6%
798Articulation Disorders2.6%
799Echolalia2.6%
800Stuttering2.6%
801Dysphasia2.6%
802Amaurosis Fugax2.6%
803Blindness, Cortical2.6%
804Dyscalculia2.6%
805Deafness2.5%
806Hearing Loss, Sudden2.5%
807Gerstmann Syndrome2.5%
808Hearing Loss, Bilateral2.5%
809Hearing Loss, High-Frequency2.5%
810Hearing Loss, Mixed Conductive-Sensorineural2.5%
811Prosopagnosia2.5%
812Apraxia, Ideomotor2.5%
813Charles Bonnet Syndrome2.5%
814Hearing Loss, Unilateral2.5%
815Complete Hearing Loss2.5%
816Alien Hand Syndrome2.5%
817Deaf Mutism2.5%
818Phantom pain2.5%
819Phantom Limb Pain2.5%
820Congenital Hyperinsulinism2.5%
821Chorioamnionitis2.5%
822Scimitar Syndrome2.4%
823Dysarthria2.4%
824Denys-Drash Syndrome2.3%
825Acrocephalosyndactylia2.3%
826Dermatomyositis2.3%
827Corneal Scar2.3%
828Retrograde amnesia2.2%
829Amnesia, Anterograde2.2%
830Mutism2.2%
831Selective Mutism2.2%
832Anophthalmos2.2%
833Anus, Imperforate2.2%
834Microphthalmos2.2%
835Paralysis, Obstetric2.2%
836Retinopathy of Prematurity2.2%
837Limb Deformities, Congenital2.2%
838Craniofacial Abnormalities2.2%
839Anorectal Malformations2.2%
840Abnormalities, Radiation-Induced2.2%
841Bloom Syndrome2.2%
842Bronchopulmonary Dysplasia2.2%
843Craniosynostosis2.2%
844Syndactyly2.2%
845Brachycephaly2.2%
846Alexia, Pure2%
847Noonan Syndrome2%
848Ophthalmia Neonatorum2%
849Cleft Palate1.9%
850Corneal Perforation1.9%
851Blepharophimosis1.9%
852Laryngostenosis1.9%
853Mouth Abnormalities1.9%
854Respiratory Distress Syndrome, Newborn1.9%
855Esophageal Atresia1.9%
856Intestinal Atresia1.9%
857Horseshoe Kidney1.9%
858Pectus excavatum1.9%
859Klippel-Feil Syndrome1.9%
860Gastroschisis1.9%
861Synostosis1.9%
862Acrodermatitis1.9%
863Lymphangiectasis, Intestinal1.9%
864Gianotti-Crosti Syndrome1.9%
865Jaw Abnormalities1.8%
866Poland Syndrome1.8%
867Arthrogryposis1.7%
868Choanal Atresia1.7%
869Tracheobronchomegaly1.7%
870Laryngocele1.7%
871Choledochal Cyst1.7%
872Hermaphroditism1.7%
873Disorders of Sex Development1.7%
874Cryptorchidism1.7%
875Hypospadias1.7%
876Amelia1.6%
877Arachnodactyly1.6%
878Ectopia Cordis1.6%
879Ectromelia1.6%
880Hemimelia1.6%
881Phocomelia1.6%
882Sirenomelia1.6%
883Polydactyly1.6%
884Brachydactyly1.6%
885Plagiocephaly1.6%
886Lower Extremity Deformities, Congenital1.6%
887Upper Extremity Deformities, Congenital1.6%
888Single umbilical artery1.6%
889Nesidioblastosis1.6%
890Micrognathism1.5%
891Pierre Robin Syndrome1.5%
892Laryngomalacia1.5%
893Pectus carinatum1.5%
894Bladder Exstrophy1.5%
895Epispadias1.5%
896Multicystic Dysplastic Kidney1.5%
897Aortic coarctation1.4%
898Cor Triatriatum1.4%
899Coronary Vessel Anomalies1.4%
900Dental Enamel Hypoplasia1.4%
901Patent ductus arteriosus1.4%
902Ebstein Anomaly1.4%
903Heart Septal Defects1.4%
904Hyaline Membrane Disease1.4%
905Hypodontia1.4%
906Macrostomia1.4%
907Microstomia1.4%
908Tetralogy of Fallot1.4%
909Transposition of Great Vessels1.4%
910Hypoplastic Left Heart Syndrome1.4%
911May-Thurner Syndrome1.4%
912Retrognathia1.4%
913Craniofacial Dysostosis1.4%
914Wolff-Parkinson-White Syndrome1.4%
915Hyperandrogenism1.3%
916Prognathism1.3%
917Long QT Syndrome1.2%
918Platybasia1.2%
919Tricuspid Atresia1.2%
920Arrhythmogenic Right Ventricular Dysplasia1.2%
921Gonadal Dysgenesis1.2%
922Bronchomalacia1.2%
923Adrenogenital Syndrome1.2%
924Tracheomalacia1.2%
925Ovotesticular Disorders of Sex Development1.2%
926Aortopulmonary Septal Defect1.2%
927Double Outlet Right Ventricle1.2%
928Endocardial Cushion Defects1.2%
929Myocardial bridging1.2%
930Aorticopulmonary Septal Defect1.2%
931Truncus Arteriosus, Persistent1%
932Goldenhar Syndrome1%
933Mandibulofacial Dysostosis1%
934Romano-Ward Syndrome1%
935Talipes0.9%
936Congenital clubfoot0.9%
937Vertical Talus0.9%
938Arteriovenous fistula0.8%
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