{"Name":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","DiseaseID__c":"GARD:0019054","id":19054,"encodedName":"x-linked-intellectual-disability-epilepsy-progressive-joint-contractures-dysmorphism-syndrome","IsDeleted":false,"Disease_Name_Full__c":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","Xref_IDs__c":"C4304917; MEDGEN:930586; MONDO:0019418; ORPHA:85319","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019418","Disease_Description__c":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. It has been described in two boys. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.","GARD_Name__c":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome","GARD_Synonym__c":"x-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome","Curated_Disease_Description_Source__c":"ORPHA:85319","Curated_Disease_Description__c":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.","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:85319","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019418","ORPHANET_ID__c":"ORPHA:85319","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual-epilepsia-contracturas progresivas de las articulaciones-dismorfia ligado al cromosoma x","Spanish_Description_Source__c":"ORPHA:85319","Spanish_Description__c":"Es un trastorno caracterizado por déficit intelectual, epilepsia, dismorfia facial y contracturas articulares progresivas. Se ha descrito en dos niños. También se informó hipotonía y problemas de alimentación al nacimiento. El modo de transmisión está ligado al cromosoma X.","Spanish_Disease_Name__c":"síndrome de discapacidad intelectual-epilepsia-contracturas progresivas de las articulaciones-dismorfia 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":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome is characterised by intellectual deficit, epilepsy, facial dysmorphism and progressive joint contractures. Hypotonia and feeding problems at birth were also reported. The mode of transmission is X-linked.","Curated_Disease_Description_Source__c":"ORPHA:85319","GARD_Synonym__c":"x-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome","Name":"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorp","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":"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":"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":"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:85319"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85319"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4304917","Source__c":"C4304917","Xref__c":"C4304917"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930586","Source__c":"C4304917","Xref__c":"MEDGEN:930586"},{"URL__c":"https://www.orpha.net/en/disease/detail/85319","Source__c":"C4304917; MONDO:0019418; ORPHA:85319","Xref__c":"ORPHA:85319"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719155005","Source__c":"C4304917","Xref__c":"719155005"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019418","Source__c":"GARD:0019054","Xref__c":"MONDO:0019418"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressively worsening joint contractures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005876","HPO_Synonym__c":"Joint contractures, progressive","HPO_Name__c":"Progressive flexion contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002828","HPO_Name__c":"Multiple joint contractures","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Absence of fine and sharp appearance of brows, nose, lips, mouth, and chin, usually because of rounded and heavy features or thickened skin with or without thickening of subcutaneous and bony tissues.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000280","HPO_Synonym__c":"Coarse face; Coarse facial appearance; Coarse facial features; Coarse facies","HPO_Name__c":"Coarse facial features","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","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:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85319","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["x-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome"]}