{"Name":"Autosomal recessive spinocerebellar ataxia 12","DiseaseID__c":"GARD:0017313","id":17313,"encodedName":"autosomal-recessive-spinocerebellar-ataxia-12","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive spinocerebellar ataxia 12","Xref_IDs__c":"C3280452; DOID:0080060; MEDGEN:482082; MONDO:0013687; OMIM:614322; ORPHA:284282","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":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0013687","Disease_Description__c":"A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.","GARD_Name__c":"Autosomal recessive spinocerebellar ataxia 12","GARD_Synonym__c":"autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency; autosomal recessive spinocerebellar ataxia type 12; scar12; spinocerebellar ataxia, autosomal recessive type 12; wwox autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome; wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","Curated_Disease_Description_Source__c":"MONDO:0013687","Curated_Disease_Description__c":"A rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:284282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0013687","ORPHANET_ID__c":"ORPHA:284282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de wwox","Spanish_Description_Source__c":"ORPHA:284282","Spanish_Description__c":"Es un síndrome poco frecuente de ataxia cerebelosa-epilepsia y discapacidad intelectual autosómico recesivo caracterizado por el inicio en la infancia temprana de ataxia cerebelosa asociada a epilepsia tónico-clónica generalizada y retraso en el desarrollo psicomotor, disartria, nistagmo evocado por la mirada y discapacidad cognitiva. Otras características descritas en algunos casos incluyen signos de motoneurona superior con espasticidad en las piernas y respuestas plantares extensoras así como atrofia cerebelosa leve en la RM cerebral.","Spanish_Disease_Name__c":"síndrome de ataxia cerebelosa-epilepsia-discapacidad intelectual autosómico recesivo por deficiencia de wwox","Spanish_GARD_Synonym__c":"ataxia espinocerebelosa autosómica recesiva tipo 12; scar12","Category_Linearization__c":"ORPHA:98006","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 autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI.","Curated_Disease_Description_Source__c":"MONDO:0013687","GARD_Synonym__c":"autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox; autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency; autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency; autosomal recessive spinocerebellar ataxia type 12; scar12; spinocerebellar ataxia, autosomal recessive type 12; wwox autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome; wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome","Name":"Autosomal recessive spinocerebellar ataxia 12","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"WWOX Foundation","Website__c":"https://wwox.org"},{"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":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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":"Neonatal","Provided_By__c":"ORPHA:284282"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:284282"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3280452","Source__c":"C3280452","Xref__c":"C3280452"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080060","Source__c":"MONDO:0013687","Xref__c":"DOID:0080060"},{"URL__c":"https://www.orpha.net/en/disease/detail/284282","Source__c":"C3280452; MONDO:0013687; ORPHA:284282","Xref__c":"ORPHA:284282"},{"URL__c":"https://www.omim.org/entry/614322","Source__c":"C3280452; MONDO:0013687; ORPHA:284282","Xref__c":"OMIM:614322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=482082","Source__c":"C3280452","Xref__c":"MEDGEN:482082"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0013687","Source__c":"GARD:0017313","Xref__c":"MONDO:0013687"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770898002","Source__c":"C3280452","Xref__c":"770898002"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"WWOX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Reduction of neurologic reflexes such as the knee-jerk reaction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001265","HPO_Synonym__c":"Decreased reflex response; Decreased reflexes","HPO_Name__c":"Hyporeflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal function of a sphincter of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002839","HPO_Synonym__c":"Sphincter disturbance; Sphincter disturbances","HPO_Name__c":"Urinary bladder sphincter dysfunction","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A kind of ataxia that affects movements of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002070","HPO_Synonym__c":"Appendicular ataxia","HPO_Name__c":"Limb ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:284282","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Psychiatry","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy","Ataxia"]},"synonyms":["autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome caused by mutation in wwox"," autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in wwox"," autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to wwox deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to ww domain containing oxidoreductase deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox (ww domain containing oxidoreductase) deficiency"," autosomal recessive cerebellar ataxia, epilepsy, intellectual disability syndrome due to wwox deficiency"," autosomal recessive spinocerebellar ataxia type 12"," scar12"," spinocerebellar ataxia, autosomal recessive type 12"," wwox autosomal recessive cerebellar ataxia - epilepsy - intellectual disability syndrome"," wwox autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome"]}