{"orpha":273,"name":"Steinert myotonic dystrophy","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["Myotonic dystrophy type 1","Steinert disease"],"definition":"A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-273/","orphanet_url":"https://www.orpha.net/en/disease/detail/273","names":{"fr":{"name":"Dystrophie myotonique de Steinert","synonyms":["Dystrophie myotonique de type 1","Maladie de Steinert"],"definition":"Maladie génétique rare avec atteinte multisystémique caractérisée par de nombreuses manifestations musculaires (faiblesse musculaire, myotonie), des cataractes précoces (avant l'âge de&#8239;50 ans) et des atteintes systémiques (atteinte cérébrale, endocrinienne, cardiaque, gastro-intestinale, utérine, cutanée et du système immunitaire) variant en fonction de l'âge de survenue. Le spectre clinique est très étendu et va de formes létales dans la petite enfance à des formes légères à début tardif."},"de":{"name":"Myotone Dystrophie Steinert","synonyms":["Curschmann-Steinert-Syndrom","Myotone Dystrophie Typ 1","Steinert-Krankheit"],"definition":"Eine seltene genetisch bedingte Multisystemerkrankung, die durch ein breites Spektrum von muskelbezogenen Manifestationen (Muskelschwäche, Myotonie, früh einsetzender Katarakt (vor dem 50. Lebensjahr) und systemischen Manifestationen (zerebrale, endokrine, kardiale, gastrointestinale, uterale, Haut- und immunologische Beteiligung) gekennzeichnet ist, die je nach Alter des Auftretens variieren. Das sehr breite klinische Spektrum reicht von tödlichen Verläufen im Säuglingsalter bis hin zu milden, spät auftretenden Erkrankungen."},"es":{"name":"Distrofia miotónica de Steinert","synonyms":["Distrofia miotónica tipo 1","Enfermedad de Steinert"],"definition":"Es un trastorno multisistémico de origen genético poco frecuente caracterizado por una amplia gama de manifestaciones musculares [debilidad muscular, miotonía, cataratas de inicio temprano (antes de los 50 años)] y manifestaciones sistémicas (cerebral, endocrina, cardíaca, del tubo digestivo, útero, piel y afección inmunológica) que varían en función de la edad de inicio. El amplio espectro clínico va desde presentaciones letales en el periodo de lactancia hasta una enfermedad leve de aparición tardía."},"it":{"name":"Distrofia miotonica di Steinert","synonyms":["Distrofia miotonica, tipo 1","Malattia di Steinert"],"definition":"Si tratta di una malattia multisistemica genetica rara, caratterizzata da un'ampia gamma di sintomi muscolari (debolezza muscolare, miotonia, cataratta a esordio precoce prima dei 50 anni) e sistemici (interessamento cerebrale, endocrino, cardiaco, del tratto gastrointestinale, dell'utero, della cute e del sistema immunitario), che variano a seconda dell'età d'esordio della malattia. Il quadro clinico è molto variabile e comprende le forme letali infantili e quelle lievi ad esordio tardivo."},"nl":{"name":"Myotone dystrofie van Steinert","synonyms":["Myotone dystrofie type 1","Ziekte van Steinert"],"definition":"Een zeldzame, genetische multisystemische aandoening, gekarakteriseerd door een brede waaier van spiergerelateerde manifestaties (spierzwakte, myotonie, vroeg aanvangend cataract (voor de leeftijd van 50 jaar) en systemische manifestaties (cerebrale, endocriene, cardiale, gastro-intestinale, uteriene, dermale en immunologische betrokkenheid) die variëren naargelang aanvangsleeftijd. Het zeer brede klinische spectrum gaat van letale presentaties in zuigelingentijd tot milde ziekte met late aanvang."},"pt":{"name":"Distrofia miotónica de Steinert","synonyms":["Distrofia miotónica tipo 1","Doença de Steinert"]},"pl":{"name":"Dystrofia miotoniczna Steinerta","synonyms":["Choroba Steinerta","DM1","Dystrofia miotoniczna typu 1","MD1"]},"cs":{"name":"Myotonická dystrofie, typ 1","synonyms":["MD1","DM1","Steinertova myotonická dystrofie","Steinertova nemoc"]},"uk":{"name":"Міотонічна дистрофія Штейнерта","synonyms":["Міотонічна дистрофія типу 1","Хвороба Штейнерта"],"definition":"A rare genetic multi-system disorder characterized by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts (before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease."},"zh":{"name":"Steinert强直性肌营养不良","synonyms":["营养不良性肌强直1型"]},"tr":{"name":"Steinert miyotonik distrofisi","synonyms":["DM1","MD1","Steinert hastalığı","Miyotonik distrofi tip 1"]}},"xrefs":[{"source":"OMIM","code":"160900","qualifier":"E","icd_relation":null,"validated":true},{"source":"ICD-10","code":"G71.1","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"8C71.0","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"557405480"},{"source":"MONDO","code":"0008056","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"C538008","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C3250443","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"8310","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":98006,"name":"Rare neurologic disease"},"parents":[{"orpha":98648,"name":"Musculoskeletal disease with cataract","classifications":[156,189]},{"orpha":206647,"name":"Myotonic dystrophy","classifications":[156,181]},{"orpha":98578,"name":"Rare disorder with ptosis","classifications":[147,156,189]},{"orpha":522522,"name":"Rare genetic neuromuscular disorder with ocular motility/alignment anomaly","classifications":[156]},{"orpha":98033,"name":"Rare neurologic disease with psychiatric involvement","classifications":[181]},{"orpha":519347,"name":"Rare neuromuscular disorder with ocular motility/alignment anomaly","classifications":[189]},{"orpha":217595,"name":"Syndrome associated with hypertrophic cardiomyopathy","classifications":[146,156,233]}],"children":[{"orpha":589830,"name":"Adult-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":589824,"name":"Childhood-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":589821,"name":"Congenital-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":589827,"name":"Juvenile-onset Steinert myotonic dystrophy","type":"Clinical subtype"},{"orpha":589833,"name":"Late-onset Steinert myotonic dystrophy","type":"Clinical subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"],"via":{"orpha":589821,"name":"Congenital-onset Steinert myotonic dystrophy"}},{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"],"via":{"orpha":589824,"name":"Childhood-onset Steinert myotonic dystrophy"}},{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"],"via":{"orpha":589827,"name":"Juvenile-onset Steinert myotonic dystrophy"}},{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"],"via":{"orpha":589830,"name":"Adult-onset Steinert myotonic dystrophy"}},{"symbol":"DMPK","name":"DM1 protein kinase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) in","status":"Assessed","source":"31326502[PMID]","hgnc":"2933","ensembl":"ENSG00000104936","omim":"605377","loci":["19q13.32"],"via":{"orpha":589833,"name":"Late-onset Steinert myotonic dystrophy"}}],"inheritance":["Autosomal dominant"],"onset":["Adolescent","Adult","Antenatal","Childhood","Infancy","Neonatal"],"prevalence":[{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.0,"area":"Europe","status":"Validated","source":"[EXPERT]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":12.5,"area":"Worldwide","status":"Not yet validated","source":"ISBN:702021520[OTHER]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":10.4,"area":"United Kingdom","status":"Validated","source":"19767415[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":7.9,"area":"Iceland","status":"Validated","source":"16264243[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.3,"area":"Serbia","status":"Validated","source":"16713671[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.13,"area":"Japan","status":"Validated","source":"1745328[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.46,"area":"Taiwan, Province of China","status":"Validated","source":"12902623[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":14.3,"area":"South Africa","status":"Validated","source":"3992413[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"6-9 / 10 000","value":76.3,"area":"Specific population","status":"Validated","source":"4973215[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":">1 / 1000","value":210.5,"area":"Specific population","status":"Validated","source":"2924205[PMID]_21364698[PMID]"},{"type":"Annual incidence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.2,"area":"Serbia","status":"Validated","source":"16713671[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":9.31,"area":"Italy","status":"Validated","source":"11359466[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":11.95,"area":"Ireland","status":"Validated","source":"14960839[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":20.0,"area":"Specific population","status":"Validated","source":"12784291[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":5.7,"area":"Specific population","status":"Validated","source":"12784291[PMID]_21364698[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-5 / 10 000","value":18.1,"area":"Croatia","status":"Validated","source":"9088385[PMID]_21364698[PMID]"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-02-27","source":"20301344[PMID]_25037086[PMID]_24882752[PMID]","terms":[{"hpo":"HP:0001324","label":"Muscle weakness","frequency":"Obligate (100%)","criteria":null},{"hpo":"HP:0031546","label":"Cardiac conduction abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002460","label":"Distal muscle weakness","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0100284","label":"EMG: myotonic discharges","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001262","label":"Excessive daytime somnolence","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003740","label":"Myotonia with warm-up phenomenon","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0007787","label":"Posterior subcapsular cataract","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002494","label":"Abnormal rapid eye movement sleep","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410011","label":"Abnormality of masticatory muscle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005110","label":"Atrial fibrillation","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100543","label":"Cognitive impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030192","label":"Fatigable weakness of bulbar muscles","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012378","label":"Fatigue","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0009027","label":"Foot dorsiflexor weakness","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100786","label":"Hypersomnia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031466","label":"Impairment in personality functioning","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003326","label":"Myalgia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0007010","label":"Poor fine motor coordination","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0012248","label":"Prolonged PR interval","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0006677","label":"Prolonged QRS complex","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0030319","label":"Weakness of facial musculature","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002500","label":"Abnormal cerebral white matter morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040173","label":"Abnormality of the tongue muscle","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002926","label":"Abnormality of thyroid physiology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001596","label":"Alopecia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000739","label":"Anxiety","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000483","label":"Astigmatism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000729","label":"Autistic behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001488","label":"Bilateral ptosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002120","label":"Cerebral cortical atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001081","label":"Cholelithiasis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000144","label":"Decreased fertility","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001558","label":"Decreased fetal movement","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0040171","label":"Decreased serum testosterone concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000716","label":"Depression","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000819","label":"Diabetes mellitus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009113","label":"Diaphragmatic weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002014","label":"Diarrhea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003693","label":"Distal amyotrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002234","label":"Early balding","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002910","label":"Elevated circulating hepatic transaminase concentration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000712","label":"Emotional lability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001349","label":"Facial diplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002527","label":"Falls","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0008872","label":"Feeding difficulties in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001263","label":"Global developmental delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012899","label":"Handgrip myotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003124","label":"Hypercholesterolemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000815","label":"Hypergonadotropic hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000842","label":"Hyperinsulinemia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000540","label":"Hypermetropia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010794","label":"Impaired visuospatial constructive cognition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000802","label":"Impotence","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000855","label":"Insulin resistance","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006889","label":"Intellectual disability, borderline","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001256","label":"Intellectual disability, mild","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004389","label":"Intestinal pseudo-obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025169","label":"Left ventricular systolic dysfunction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007941","label":"Limited extraocular movements","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000026","label":"Male hypogonadism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001268","label":"Mental deterioration","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010952","label":"Mild fetal ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012901","label":"Myotonia of the jaw","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012903","label":"Myotonia of the upper limb","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011470","label":"Nasogastric tube feeding in infancy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003722","label":"Neck flexor weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000467","label":"Neck muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001319","label":"Neonatal hypotonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000602","label":"Ophthalmoplegia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0200136","label":"Oral-pharyngeal dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011999","label":"Paranoia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009830","label":"Peripheral neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001561","label":"Polyhydramnios","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003701","label":"Proximal muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007663","label":"Reduced visual acuity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002878","label":"Respiratory failure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004887","label":"Respiratory failure requiring assisted ventilation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002093","label":"Respiratory insufficiency","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002747","label":"Respiratory insufficiency due to muscle weakness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000867","label":"Secondary hyperparathyroidism","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000736","label":"Short attention span","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0003202","label":"Skeletal muscle atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004755","label":"Supraventricular tachycardia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001762","label":"Talipes equinovarus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0010804","label":"Tented upper lip vermilion","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000029","label":"Testicular atrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000717","label":"Autism","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0030692","label":"Brain neoplasm","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012054","label":"Choroidal melanoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003003","label":"Colon cancer","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000824","label":"Decreased response to growth hormone stimulation test","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001644","label":"Dilated cardiomyopathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0012114","label":"Endometrial carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0002540","label":"Inability to walk","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008069","label":"Neoplasm of the skin","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0040198","label":"Non-medullary thyroid carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0008770","label":"Obsessive-compulsive trait","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0025318","label":"Ovarian carcinoma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003749","label":"Pelvic girdle muscle weakness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003477","label":"Peripheral axonal neuropathy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0003547","label":"Shoulder girdle muscle weakness","frequency":"Very rare (<4-1%)","criteria":null}]}}