{"Name":"Autism spectrum disorder - epilepsy - arthrogryposis syndrome","DiseaseID__c":"GARD:0017604","id":17604,"encodedName":"autism-spectrum-disorder-epilepsy-arthrogryposis-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Autism spectrum disorder - epilepsy - arthrogryposis syndrome","Xref_IDs__c":"C3809910; MEDGEN:816240; MONDO:0014248; OMIM:615553; ORPHA:370943","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"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:0014248","Disease_Description__c":"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.","GARD_Name__c":"Autism spectrum disorder - epilepsy - arthrogryposis syndrome","GARD_Synonym__c":"arthrogryposis, impaired intellectual development, and seizures; autism spectrum disorder-epilepsy-arthrogryposis syndrome; slc35a3-cdg","Curated_Disease_Description_Source__c":"MONDO:0014248","Curated_Disease_Description__c":"A form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.","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:370943","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014248","ORPHANET_ID__c":"ORPHA:370943","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de trastorno del espectro autista-epilepsia-artrogriposis","Spanish_Description_Source__c":"ORPHA:370943","Spanish_Description__c":"Es un trastorno congénito de la N-glicosilación caracterizado por artrogriposis distal (leves contracturas en flexión de los dedos, desviación de las falanges distales, malformación en ''cuello de cisne''), retromicrognatia, hipotonía muscular general, retraso en el desarrollo psicomotor, trastornos del espectro autista (retraso en el habla, uso anómalo del habla, dificultades para iniciar, entender y mantener una interacción social, comunicación no verbal limitada y conductas repetitivas), convulsiones, microcefalia y discapacidad intelectual de leve a moderada y que se hace evidente con la edad.","Spanish_Disease_Name__c":"síndrome de trastorno del espectro autista-epilepsia-artrogriposis","Spanish_GARD_Synonym__c":"slc35a3-cdg","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 form of congenital disorders of N-linked glycosylation characterized by distal arthrogryposis (mild flexion contractures of the fingers, deviation of the distal phalanges, swan-neck deformity), retromicrognathia, general muscle hypotonia, delayed psychomotor development, autism spectrum disorder (speech delay, abnormal use of speech, difficulties in initiating, understanding and maintaining social interaction, limited non-verbal communication and repetitive behavior), seizures, microcephaly and mild to moderate intellectual disability that becomes apparent with age.","Curated_Disease_Description_Source__c":"MONDO:0014248","GARD_Synonym__c":"arthrogryposis, impaired intellectual development, and seizures; autism spectrum disorder-epilepsy-arthrogryposis syndrome; slc35a3-cdg","Name":"Autism spectrum disorder - epilepsy - arthrogryposis syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Organization for Autism Research","Website__c":"https://researchautism.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":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic diseases"},{"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":"Orthopedics","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Congenital limb malformation","Tag_Category__c":"Account","curated_tag_name":"Limb anomalies"},{"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":"Infancy","Provided_By__c":"ORPHA:370943"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:370943"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3809910","Source__c":"C3809910","Xref__c":"C3809910"},{"URL__c":"https://www.orpha.net/en/disease/detail/370943","Source__c":"C3809910; MONDO:0014248","Xref__c":"ORPHA:370943"},{"URL__c":"https://www.omim.org/entry/615553","Source__c":"C3809910; MONDO:0014248; ORPHA:370943","Xref__c":"OMIM:615553"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=816240","Source__c":"C3809910","Xref__c":"MEDGEN:816240"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014248","Source__c":"GARD:0017604","Xref__c":"MONDO:0014248"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC35A3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized non-motor (absence) seizure is a type of a type of dialeptic seizure that is of electrographically generalized onset. It is a generalized seizure characterized by an interruption of activities, a blank stare, and usually the person will be unresponsive when spoken to. Any ictal motor phenomena are minor in comparison to these non-motor features.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002121","HPO_Synonym__c":"Absence seizure; Absence seizures; Brief seizures with staring spells; Petit mal; Petit mal seizure; Petit mal seizures","HPO_Name__c":"Generalized non-motor (absence) seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001765","HPO_Synonym__c":"Hammer toe; Hammertoe; Hammertoes","HPO_Name__c":"Hammertoe","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Frequent (30-79%)","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:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of developmental dysplasia of the hip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001385","HPO_Synonym__c":"Congenital hip dysplasia; DDH; Developmental dysplasia of the hip","HPO_Name__c":"Hip dysplasia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004976","HPO_Synonym__c":"Dislocations of the knees; Knee dislocations","HPO_Name__c":"Knee dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Severe intellectual disability (ID) is defined as a type of ID characterized by severely sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 20-34.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010864","HPO_Synonym__c":"Early and severe mental retardation; Intellectual disability, severe; Mental retardation, severe; Severe mental retardation","HPO_Name__c":"Severe intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Always (100%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:370943","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Displacement of the femur from its normal location in the hip joint.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002827","HPO_Synonym__c":"Dislocated femoral heads; Dislocated hips; Dislocation of hip; Dislocation of the femoral head; Hip dislocation","HPO_Name__c":"Hip dislocation","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Psychiatry","Orthopedics","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy","Congenital limb malformation"]},"synonyms":["arthrogryposis, impaired intellectual development, and seizures"," autism spectrum disorder-epilepsy-arthrogryposis syndrome"," slc35a3-cdg"]}