{"orpha":581,"name":"Mucopolysaccharidosis type 3","type":"Disease","group":"Disorder","status":"active","flags":[],"synonyms":["MPS3","MPSIII","Mucopolysaccharidosis type III","Sanfilippo disease","Sanfilippo syndrome"],"definition":"A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type&nbsp;3 (MPS&nbsp;III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction.","note":null,"url":"https://raremap.alftech.space/d/ORPHA-581/","orphanet_url":"https://www.orpha.net/en/disease/detail/581","names":{"fr":{"name":"Mucopolysaccharidose type 3","synonyms":["MPS3","MPSIII","Maladie de Sanfilippo","Mucopolysaccharidose type III","Syndrome de Sanfilippo"],"definition":"Groupe de maladies rares de surcharge lysosomale caractérisées par un déclin neurocognitif progressif, une perte des capacités fonctionnelles et un décès prématuré. On distingue quatre sous-types étiologiques de mucopolysaccharidose de type&nbsp;3 (MPS&nbsp;III, syndrome de Sanfilippo) appelés syndrome de Sanfilippo de type A, B, C et D. Chaque sous-type est causé par le déficit d'une enzyme particulière impliquée dans la dégradation de l'héparane sulfate, ce qui entraîne une accumulation de substrat et un dysfonctionnement cellulaire."},"de":{"name":"Mukopolysaccharidose Typ 3","synonyms":["MPS III","MPS3","Mukopolysaccharidose Typ III","Sanfilippo-Krankheit","Sanfilippo-Syndrom"],"definition":"Eine Gruppe seltener lysosomaler Speicherkrankheiten, die durch fortschreitenden neurokognitiven Verfall, Verlust der funktionellen Fähigkeiten und vorzeitigen Tod gekennzeichnet sind. Es gibt vier ätiologische Subtypen der Mukopolysaccharidose Typ 3 (MPS III, Sanfilippo-Syndrom), die als Sanfilippo-Syndrom Typ A, B, C und D bezeichnet werden. Jeder Subtyp wird durch einen Mangel eines bestimmten Enzyms verursacht, das am Abbau von Heparansulfat beteiligt ist, was zu einer Substratakkumulation und zellulären Dysfunktion führt."},"es":{"name":"Mucopolisacaridosis tipo 3","synonyms":["Enfermedad de Sanfilippo","MPS3","MPSIII","Mucopolisacaridosis tipo III","Síndrome de Sanfilippo"],"definition":"Es un grupo de enfermedades poco frecuentes de depósito lisosomal caracterizadas por un deterioro neurocognitivo progresivo, pérdida de capacidades funcionales y muerte prematura. Se han descrito cuatro subtipos etiológicos de mucopolisacaridosis tipo 3 (MPS III, síndrome de Sanfilippo) denominados síndrome de Sanfilippo tipo A, B, C y D. Cada subtipo está causado por la deficiencia de una enzima particular involucrada en la degradación del heparán sulfato, lo que conduce a un acúmulo del sustrato y a la disfunción celular."},"it":{"name":"Mucopolisaccaridosi tipo 3","synonyms":["MPS3","MPSIII","Malattia di Sanfilippo","Mucopolisaccaridosi, tipo III","Mucopolisaccaridosi tipo III","Sindrome di Sanfilippo"]},"nl":{"name":"Mucopolysacharidose type 3","synonyms":["MPS3","MPSIII","Mucopolysacharidose type III","Syndroom van Sanfilippo","Ziekte van Sanfilippo"],"definition":"Een groep van zeldzame lysosomale stapelingsziekten, gekenmerkt door progressieve neurocognitieve aftakeling, verlies van functionele vaardigheden en voortijdig overlijden. Er bestaan vier etiologische subtypes van mucopolysaccharidose type 3 (MPS III, syndroom van Sanfilippo) genaamd syndroom van Sanfilippo type A, B, C, en D. Elk subtype wordt veroorzaakt door deficiëntie van een specifiek enzym dat betrokken is bij degradatie van heparansulfaat, wat leidt tot accumulatie van substraat en cellulaire disfunctie."},"pt":{"name":"Mucopolissacaridose tipo 3","synonyms":["Doença Sanfilippo","MPS3","MPSIII","Mucopolissacaridose tipo III","Síndrome Sanfilippo"],"definition":"Grupo de doenças raras de armazenamento lisossomal caracterizadas por declínio neurocognitivo progressivo, perda de capacidades funcionais e morte prematura. Existem quatro subtipos etiológicos de mucopolissacaridose tipo 3 (MPS III, síndrome Sanfilippo) chamados síndrome Sanfilippo tipo A, B, C e D. Cada subtipo é causado pela deficiência de uma enzima específica envolvida na degradação do sulfato de heparana, levando à acumulação de substrato e disfunção celular."},"pl":{"name":"Mukopolisacharydoza typu 3","synonyms":["Choroba Sanfilippo","MPS3","MPSIII","Mukopolisacharydoza typu III"],"definition":"Mukopolisacharydoza typu III (MPS III) jest lizosomalną chorobą spichrzeniową należącą do grupy mukopolisacharydoz. Charakteryzuje się ciężkim i szybkim pogorszeniem sprawności intelektualnej."},"cs":{"name":"Mukopolysacharidóza, typ 3","synonyms":["MPS3","MPSIII","Mukopolysacharidóza, typ III","Sanfilippova nemoc"]},"uk":{"name":"Мукополісахаридоз, тип 3","synonyms":["MPS3","MPSIII","Мукополісахаридоз III типу","Хвороба Санфіліппо"],"definition":"A group of rare lysosomal storage diseases characterized by progressive neurocognitive decline, loss of functional abilities and premature death. There are four etiological subtypes of mucopolysaccharidosis type&nbsp;3 (MPS&nbsp;III, Sanfilippo syndrome) called Sanfilippo syndrome type A, B, C, and D. Each subtype is caused by deficiency of a particular enzyme involved in the degradation of heparan sulfate leading to substrate accumulation and cellular dysfunction."},"zh":{"name":"粘多糖贮积症3型","synonyms":["粘多糖贮积症III型"]},"tr":{"name":"Mukopolisakkaridoz tip 3","synonyms":["MPS3","MPSIII","Sanfilippo hastalığı","Mukopolisakkaridoz tip III"]}},"xrefs":[{"source":"OMIM","code":"252900","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252920","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252930","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"OMIM","code":"252940","qualifier":"BTNT","icd_relation":null,"validated":true},{"source":"ICD-10","code":"E76.2","qualifier":"NTBT","icd_relation":"inclusion","validated":true},{"source":"ICD-11","code":"5C56.3Y","qualifier":"NTBT","icd_relation":"index","validated":true,"icd11_uri":"1477250013"},{"source":"MONDO","code":"0018937","qualifier":"E","icd_relation":null,"validated":true},{"source":"MeSH","code":"D009084","qualifier":"E","icd_relation":null,"validated":true},{"source":"UMLS","code":"C0026706","qualifier":"E","icd_relation":null,"validated":true},{"source":"GARD","code":"3807","qualifier":"E","icd_relation":null,"validated":true},{"source":"MedDRA","code":"10056890","qualifier":"E","icd_relation":null,"validated":true}],"associations":[],"incoming_associations":[],"preferential_parent":{"orpha":68367,"name":"Rare inborn error of metabolism"},"parents":[{"orpha":225681,"name":"Lysosomal disease with epilepsy","classifications":[156,181]},{"orpha":93448,"name":"Lysosomal storage disease with skeletal involvement","classifications":[156,199]},{"orpha":98644,"name":"Metabolic disease with cataract","classifications":[156,189]},{"orpha":79213,"name":"Mucopolysaccharidosis","classifications":[147,150,156,189,199,233]},{"orpha":68385,"name":"Neurometabolic disease","classifications":[156,181]},{"orpha":611314,"name":"Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome","classifications":[156,181]}],"children":[{"orpha":79269,"name":"Sanfilippo syndrome type A","type":"Etiological subtype"},{"orpha":79270,"name":"Sanfilippo syndrome type B","type":"Etiological subtype"},{"orpha":79271,"name":"Sanfilippo syndrome type C","type":"Etiological subtype"},{"orpha":79272,"name":"Sanfilippo syndrome type D","type":"Etiological subtype"}],"genes":[],"genes_via_subtypes":[{"symbol":"GNS","name":"glucosamine (N-acetyl)-6-sulfatase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"12573255[PMID]_17998446[PMID]","hgnc":"4422","ensembl":"ENSG00000135677","omim":"607664","loci":["12q14.3"],"via":{"orpha":79272,"name":"Sanfilippo syndrome type D"}},{"symbol":"HGSNAT","name":"heparan-alpha-glucosaminide N-acetyltransferase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"17033958[PMID]","hgnc":"26527","ensembl":"ENSG00000165102","omim":"610453","loci":["8p11.21-p11.1"],"via":{"orpha":79271,"name":"Sanfilippo syndrome type C"}},{"symbol":"NAGLU","name":"N-acetyl-alpha-glucosaminidase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"16151907[PMID]","hgnc":"7632","ensembl":"ENSG00000108784","omim":"609701","loci":["17q21.2"],"via":{"orpha":79270,"name":"Sanfilippo syndrome type B"}},{"symbol":"SGSH","name":"N-sulfoglucosamine sulfohydrolase","gene_type":"gene with protein product","association":"Disease-causing germline mutation(s) (loss of function) in","status":"Assessed","source":"15146460[PMID]","hgnc":"10818","ensembl":"ENSG00000181523","omim":"605270","loci":["17q25.3"],"via":{"orpha":79269,"name":"Sanfilippo syndrome type A"}}],"inheritance":["Autosomal recessive"],"onset":["Childhood"],"prevalence":[{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.21,"area":"Brazil","status":"Validated","source":"31926052[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 100 000","value":1.63,"area":"Sweden","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.27,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.88,"area":"Norway","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.43,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.92,"area":"Denmark","status":"Validated","source":"18681890[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.36,"area":"Ireland","status":"Validated","source":"9439667[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.29,"area":"Canada","status":"Validated","source":"10617747[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.39,"area":"Taiwan, Province of China","status":"Validated","source":"19396827[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.7,"area":"Tunisia","status":"Validated","source":"20209839[PMID]"},{"type":"Prevalence at birth","qualification":"Class only","class":"1-9 / 1 000 000","value":0.0,"area":"Worldwide","status":"Not yet validated","source":"ORPHANET"},{"type":"Point prevalence","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.3,"area":"Europe","status":"Validated","source":"European Medicines Agency 2012[OTHER]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.87,"area":"Europe","status":"Not yet validated","source":"ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.57,"area":"Germany","status":"Validated","source":"16435194[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Portugal","status":"Validated","source":"14685153[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.89,"area":"Netherlands","status":"Validated","source":"10480370[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.42,"area":"Australia","status":"Validated","source":"9918480[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.91,"area":"Czech Republic","status":"Validated","source":"20490927[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.84,"area":"Sweden","status":"Validated","source":"18681890[PMID]_25274184[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.86,"area":"Poland","status":"Validated","source":"25472774[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"Japan","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.38,"area":"Switzerland","status":"Validated","source":"28595941[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.8,"area":"Saudi Arabia","status":"Validated","source":"20622343[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.25,"area":"Korea, Republic of","status":"Validated","source":"25364648[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":1.62,"area":"Estonia","status":"Validated","source":"22480138[PMID]"},{"type":"Point prevalence","qualification":"Value and class","class":"<1 / 1 000 000","value":0.071,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 1 000 000","value":0.26,"area":"United States","status":"Validated","source":"34051828[PMID]"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":2.4,"area":"Israel","status":"Validated","source":"33239050[PMID]_ORPHANET"},{"type":"Prevalence at birth","qualification":"Value and class","class":"1-9 / 100 000","value":4.8,"area":"Specific population","status":"Validated","source":"33239050[PMID]_ORPHANET"}],"phenotypes":{"validation_status":"y","online":"y","validation_date":"2020-04-07","source":"25851924[PMID]_31536183[PMID]","terms":[{"hpo":"HP:0007009","label":"Central nervous system degeneration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000389","label":"Chronic otitis media","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002208","label":"Coarse hair","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0000750","label":"Delayed speech and language development","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002230","label":"Generalized hirsutism","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0006887","label":"Intellectual disability, progressive","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0010864","label":"Intellectual disability, severe","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002024","label":"Malabsorption","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0008155","label":"Mucopolysacchariduria","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002344","label":"Progressive neurologic deterioration","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0002360","label":"Sleep abnormality","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0003541","label":"Urinary glycosaminoglycan excretion","frequency":"Very frequent (99-80%)","criteria":null},{"hpo":"HP:0001999","label":"Abnormal facial shape","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0003312","label":"Abnormal form of the vertebral bodies","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000772","label":"Abnormal rib morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011842","label":"Abnormality of skeletal morphology","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000889","label":"Abnormality of the clavicle","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0031458","label":"Adenoiditis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001251","label":"Ataxia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000708","label":"Atypical behavior","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0410263","label":"Brain imaging abnormality","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000518","label":"Cataract","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000280","label":"Coarse facial features","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0004493","label":"Craniofacial hyperostosis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002376","label":"Developmental regression","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001288","label":"Gait disturbance","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002857","label":"Genu valgum","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000365","label":"Hearing impairment","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002159","label":"Heparan sulfate excretion in urine","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002240","label":"Hepatomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001007","label":"Hirsutism","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000752","label":"Hyperactivity","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001276","label":"Hypertonia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0002254","label":"Intermittent diarrhea","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000545","label":"Myopia","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000388","label":"Otitis media","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0005425","label":"Recurrent sinopulmonary infections","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011110","label":"Recurrent tonsillitis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0011947","label":"Respiratory tract infection","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001328","label":"Specific learning disability","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001744","label":"Splenomegaly","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0000664","label":"Synophrys","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0100874","label":"Thick hair","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001604","label":"Vocal cord paresis","frequency":"Frequent (79-30%)","criteria":null},{"hpo":"HP:0001646","label":"Abnormal aortic valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001633","label":"Abnormal mitral valve morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001637","label":"Abnormal myocardium morphology","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0007256","label":"Abnormal pyramidal sign","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0025160","label":"Abnormal temper tantrums","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000164","label":"Abnormality of the dentition","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004452","label":"Abnormality of the middle ear ossicles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000718","label":"Aggressive behavior","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0011951","label":"Aspiration pneumonia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001678","label":"Atrioventricular block","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0005743","label":"Avascular necrosis of the capital femoral epiphysis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001640","label":"Cardiomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000405","label":"Conductive hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002019","label":"Constipation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012185","label":"Constrictive median neuropathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000726","label":"Dementia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000268","label":"Dolichocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001260","label":"Dysarthria","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000943","label":"Dysostosis multiplex","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002015","label":"Dysphagia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030195","label":"Fatigable weakness of swallowing muscles","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001371","label":"Flexion contracture","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001385","label":"Hip dysplasia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0030838","label":"Hip pain","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000238","label":"Hydrocephalus","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0006801","label":"Hyperactive deep tendon reflexes","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002659","label":"Increased susceptibility to fractures","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000023","label":"Inguinal hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001249","label":"Intellectual disability","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001387","label":"Joint stiffness","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002505","label":"Loss of ambulation","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0100512","label":"Low levels of vitamin D","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000256","label":"Macrocephaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000158","label":"Macroglossia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000410","label":"Mixed hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001270","label":"Motor delay","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002870","label":"Obstructive sleep apnea","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000580","label":"Pigmentary retinopathy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001538","label":"Protuberant abdomen","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0004349","label":"Reduced bone mineral density","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012664","label":"Reduced left ventricular ejection fraction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000510","label":"Rod-cone dystrophy","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002650","label":"Scoliosis","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001250","label":"Seizure","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000407","label":"Sensorineural hearing impairment","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001257","label":"Spasticity","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0009928","label":"Thick nasal alae","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0012471","label":"Thick vermilion border","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0000391","label":"Thickened helices","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0001537","label":"Umbilical hernia","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002781","label":"Upper airway obstruction","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:0002119","label":"Ventriculomegaly","frequency":"Occasional (29-5%)","criteria":null},{"hpo":"HP:5200321","label":"Amplification of sexual behavior","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000618","label":"Blindness","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0001133","label":"Constriction of peripheral visual field","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007957","label":"Corneal opacity","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000734","label":"Disinhibition","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000710","label":"Hyperorality","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000662","label":"Nyctalopia","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0007759","label":"Opacification of the corneal stroma","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000648","label":"Optic atrophy","frequency":"Very rare (<4-1%)","criteria":null},{"hpo":"HP:0000546","label":"Retinal degeneration","frequency":"Very rare (<4-1%)","criteria":null}]}}