{"Name":"Intellectual disability, X-linked, with or without seizures, ARX-related","DiseaseID__c":"GARD:0005614","id":5614,"encodedName":"intellectual-disability-x-linked-with-or-without-seizures-arx-related","IsDeleted":false,"Disease_Name_Full__c":"Intellectual disability, X-linked, with or without seizures, ARX-related","Xref_IDs__c":"C0796244; C563150; DOID:0112021; MEDGEN:208681; MONDO:0010317; OMIM:300419","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":1,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":0,"Description_Source__c":"OMIM:300419","Disease_Description__c":"Intellectual developmental disorder-29 (XLID29) is a nonspecific form of XLID. It is part of a phenotypic spectrum of disorders caused by mutation in the ARX gene comprising a nearly continuous series of developmental disorders ranging from lissencephaly (LISX2; {300215}) to Proud syndrome ({300004}) to infantile spasms without brain malformations (DEE1; {308350}) to Partington syndrome ({309510}) ({8:Kato et al., 2004}; {13:Wallerstein et al., 2008}).","GARD_Name__c":"Intellectual disability, X-linked, with or without seizures, ARX-related","GARD_Synonym__c":"arx-related intellectual disability; intellectual developmental disorder, x-linked 29; intellectual developmental disorder, x-linked 29, x-linked recessive","Curated_Disease_Description_Source__c":"MEDGEN:C0796244","Curated_Disease_Description__c":"Intellectual developmental disorder, x-linked 29 is a genetic neurological disorder. It is caused by mutations in the ARX gene. Symptoms usually begin in infancy or childhood. This condition can cause profound intellectual disability that does not progress over time. People with this condition may be obese. This condition can cause differences in facial features, particularly around the eyes and lips. Some people with this condition may experience symptoms of epilepsy, like seizures. People with this condition may have a larger-than-average head size. This condition is inherited in an X-linked manner. While both males and females may be affected, females typically have milder symptoms, and some may not have any symptoms at all.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300419","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010317","ORPHANET_ID__c":null,"Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":null,"Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":null,"Spanish_GARD_Synonym__c":null,"Category_Linearization__c":null,"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":"Intellectual developmental disorder, x-linked 29 is a genetic neurological disorder. It is caused by mutations in the ARX gene. Symptoms usually begin in infancy or childhood. This condition can cause profound intellectual disability that does not progress over time. People with this condition may be obese. This condition can cause differences in facial features, particularly around the eyes and lips. Some people with this condition may experience symptoms of epilepsy, like seizures. People with this condition may have a larger-than-average head size. This condition is inherited in an X-linked manner. While both males and females may be affected, females typically have milder symptoms, and some may not have any symptoms at all.","Curated_Disease_Description_Source__c":"MEDGEN:C0796244","GARD_Synonym__c":"arx-related intellectual disability; intellectual developmental disorder, x-linked 29; intellectual developmental disorder, x-linked 29, x-linked recessive","Name":"Intellectual disability, X-linked, with or without seizures, ARX-related","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796244"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005614","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/300419","Source__c":"C0796244; MONDO:0010317","Xref__c":"OMIM:300419"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112021","Source__c":"MONDO:0010317","Xref__c":"DOID:0112021"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563150","Source__c":"MONDO:0010317","Xref__c":"C563150"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796244","Source__c":"C0796244","Xref__c":"C0796244"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=208681","Source__c":"C0796244","Xref__c":"MEDGEN:208681"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010317","Source__c":"GARD:0005614","Xref__c":"MONDO:0010317"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ARX","GHR_URL__c":"https://medlineplus.gov/genetics/gene/arx","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of the ability to control the urinary bladder leading to involuntary urination.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000020","HPO_Synonym__c":"Bladder incontinence; Loss of bladder control","HPO_Name__c":"Urinary incontinence","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Distance between medial and lateral canthi is more than two standard deviations above the mean for age (objective); or, apparently increased length of the palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000637","HPO_Synonym__c":"Broad opening between the eyelids; Broad palpebral fissure; Long opening between the eyelids; Long palpebral fissures; Wide opening between the eyelids; Wide palpebral fissure; Wide palpebral fissures","HPO_Name__c":"Long palpebral fissure","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in periorbital soft tissue.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000629","HPO_Synonym__c":"Periorbital puffiness; Periorbital swelling; Puffiness around eye; Puffy eyes; Swelling around the eyes","HPO_Name__c":"Periorbital fullness","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:300419","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:300419","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:300419","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A descriptive term denoting a developmental anomaly of the male gonad characterized by architectural disorganization of the testicular parenchyma, which may include irregular or poorly formed seminiferous tubules, a thinned tunica albuginea, and increased or fibrotic interstitial tissue. Macroscopically, the testis may range from near-normal in size and appearance to a small, firm, or streak-like structure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008733","HPO_Synonym__c":"Dysplastic testes","HPO_Name__c":"Dysplastic testis","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Specialist":["Neurodevelopmental disabilities"]},"synonyms":["arx-related intellectual disability"," intellectual developmental disorder, x-linked 29"," intellectual developmental disorder, x-linked 29, x-linked recessive"]}