{"Name":"Nathalie syndrome","DiseaseID__c":"GARD:0003929","id":3929,"encodedName":"nathalie-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Nathalie syndrome","Xref_IDs__c":"716170005; C1850626; C538342; MEDGEN:338087; MONDO:0009721; OMIM:255990; ORPHA:2663","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":6,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":7,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0009721","Disease_Description__c":"A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.","GARD_Name__c":"Nathalie syndrome","GARD_Synonym__c":"deafness with cataract and skeletal anomaly syndrome; deafness-cataract-skeletal anomalies syndrome; deafness-cataracts-skeletal anomalies syndrome; sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0009721","Curated_Disease_Description__c":"A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:2663","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0009721","ORPHANET_ID__c":"ORPHA:2663","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de nathalie","Spanish_Description_Source__c":"ORPHA:2663","Spanish_Description__c":"Es un defecto genético y poco frecuente del desarrollo embrionario caracterizado por una hipoacusia neurosensorial, catarata de inicio en la infancia, falta del desarrollo de las características sexuales secundarias, atrofia muscular espinal, retraso del crecimiento y anomalías cardíacas y esqueléticas. En algunos casos se ha descrito muerte súbita, así como miocardiopatía fatal e insuficiencia cardíaca.","Spanish_Disease_Name__c":"síndrome de nathalie","Spanish_GARD_Synonym__c":"síndrome de hipoacusia neurosensorial-catarata-anomalías esqueléticas-miocardiopatía; síndrome de sordera-catarata-anomalías esqueléticas","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"A rare, genetic developmental defect during embryogenesis disorder characterized by sensorineural hearing impairment, childhood-onset cataract, underdeveloped secondary sexual characteristics, spinal muscular atrophy, growth retardation, and cardiac and skeletal anomalies. Sudden death, as well as fatal cardiomyopathy and heart failure, have been described in some cases.","Curated_Disease_Description_Source__c":"MONDO:0009721","GARD_Synonym__c":"deafness with cataract and skeletal anomaly syndrome; deafness-cataract-skeletal anomalies syndrome; deafness-cataracts-skeletal anomalies syndrome; sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome","Name":"Nathalie syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Cardiology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Otolaryngology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Cardiomyopathy","Tag_Category__c":"Account","curated_tag_name":"Cardiomyopathy"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2663"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/2663","Source__c":"C1850626; MONDO:0009721; ORPHA:2663","Xref__c":"ORPHA:2663"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716170005","Source__c":"C1850626; MONDO:0009721","Xref__c":"716170005"},{"URL__c":"https://www.omim.org/entry/255990","Source__c":"C1850626; MONDO:0009721; ORPHA:2663","Xref__c":"OMIM:255990"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C538342","Source__c":"MONDO:0009721","Xref__c":"C538342"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1850626","Source__c":"C1850626","Xref__c":"C1850626"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=338087","Source__c":"C1850626","Xref__c":"MEDGEN:338087"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0009721","Source__c":"GARD:0003929","Xref__c":"MONDO:0009721"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Any cardiac rhythm other than the normal sinus rhythm. Such a rhythm may be either of sinus or ectopic origin and either regular or irregular. An arrhythmia may be due to a disturbance in impulse formation or conduction or both.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011675","HPO_Synonym__c":"Abnormal heart rate; Arrhythmias; Cardiac arrhythmia; Cardiac arrhythmias; Cardiac rhythm disturbances; Heart rhythm disorders; Irregular heart beat; Irregular heartbeat","HPO_Name__c":"Arrhythmia","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000407","HPO_Synonym__c":"Hearing loss, sensorineural; Sensorineural deafness; Sensorineural hearing loss","HPO_Name__c":"Sensorineural hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2663","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A cataract is an opacity or clouding that develops in the crystalline lens of the eye or in its capsule.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000518","HPO_Synonym__c":"Cataracts; Clouding of the lens of the eye; Cloudy lens; Lens opacities; Lens opacity","HPO_Name__c":"Cataract","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Congenital Abnormality"],"Specialist":["Genetics","Cardiology","Ophthalmology","Otolaryngology","Anterior segment of Eye","Pediatrics"],"Account":["Cardiomyopathy"]},"synonyms":["deafness with cataract and skeletal anomaly syndrome"," deafness-cataract-skeletal anomalies syndrome"," deafness-cataracts-skeletal anomalies syndrome"," sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"]}