{"Name":"X-linked intellectual disability-ataxia-apraxia syndrome","DiseaseID__c":"GARD:0019063","id":19063,"encodedName":"x-linked-intellectual-disability-ataxia-apraxia-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-ataxia-apraxia syndrome","Xref_IDs__c":"C4305139; MEDGEN:930808; MONDO:0019430; ORPHA:85338","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0019430","Disease_Description__c":"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers. There have been no further descriptions in the literature since 1992.","GARD_Name__c":"X-linked intellectual disability-ataxia-apraxia syndrome","GARD_Synonym__c":"x-linked intellectual disability with ataxia and apraxia syndrome","Curated_Disease_Description_Source__c":"ORPHA:85338","Curated_Disease_Description__c":"A rare, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:85338","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019430","ORPHANET_ID__c":"ORPHA:85338","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-ataxia-apraxia ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85338","Spanish_Description__c":"Es un trastorno sindrómico poco frecuente de discapacidad intelectual ligado al cromosoma X, caracterizado por ataxia no progresiva, apraxia, discapacidad intelectual variable y/o disfunción visuoespacial, visuográfica y visuoconstructiva en los pacientes varones. También se han asociado crisis epilépticas, pie zambo congénito y macroorquidia. Se ha descrito una expresión clínica parcial en las mujeres portadoras. No ha habido más casos descritos en la literatura desde 1992.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-ataxia-apraxia ligado al cromosoma x","Spanish_GARD_Synonym__c":null,"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, X-linked syndromic intellectual disability disorder characterized by non-progressive ataxia, apraxia, variable intellectual disability and/or visuospatial, visuographic and visuoconstructive dysfunctions in male patients. Seizures, congenital clubfoot and macroorchidism have also been associated. Partial clinical expression was noted in obligate female carriers.","Curated_Disease_Description_Source__c":"ORPHA:85338","GARD_Synonym__c":"x-linked intellectual disability with ataxia and apraxia syndrome","Name":"X-linked intellectual disability-ataxia-apraxia syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"}],"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":"Neurology","Tag_Category__c":"Disease Category;Specialist","category_description":"Neurological diseases affect the brain, spinal cord, cranial nerves, autonomic nerves, or other peripheral nerves.","curated_tag_name":"Neurological diseases"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:85338"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930808","Source__c":"C4305139","Xref__c":"MEDGEN:930808"},{"URL__c":"https://www.orpha.net/en/disease/detail/85338","Source__c":"C4305139; MONDO:0019430; ORPHA:85338","Xref__c":"ORPHA:85338"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305139","Source__c":"C4305139","Xref__c":"C4305139"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718845002","Source__c":"C4305139","Xref__c":"718845002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019430","Source__c":"GARD:0019063","Xref__c":"MONDO:0019430"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85338","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001250","HPO_Synonym__c":"Epileptic seizure; Seizures","HPO_Name__c":"Seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85338","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A defect in the understanding of complex motor commands and in the execution of certain learned movements, i.e., deficits in the cognitive components of learned movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002186","HPO_Name__c":"Apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85338","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Talipes equinovarus (also called clubfoot) typically has four main components: inversion and adduction of the forefoot; inversion of the heel and hindfoot; equinus (limitation of extension) of the ankle and subtalar joint; and internal rotation of the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001762","HPO_Synonym__c":"Club feet; Club foot; Clubbing of feet; Clubfeet; Clubfoot; Equinovarus; Foot, talipes equinovarus; Pes equinovarus; Pes equinus","HPO_Name__c":"Talipes equinovarus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["x-linked intellectual disability with ataxia and apraxia syndrome"]}