{"Name":"Intellectual disability, X-linked 63","DiseaseID__c":"GARD:0005613","id":5613,"encodedName":"intellectual-disability-x-linked-63","IsDeleted":false,"Disease_Name_Full__c":"Intellectual disability, X-linked 63","Xref_IDs__c":"C1845672; C564522; DOID:0112050; MEDGEN:337002; MONDO:0010313; OMIM:300387","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":4,"No_of_Age_at_Onset__c":0,"Description_Source__c":"MONDO:0010313","Disease_Description__c":"Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene.","GARD_Name__c":"Intellectual disability, X-linked 63","GARD_Synonym__c":"acsl4 non-syndromic x-linked intellectual disability; intellectual developmental disorder, x-linked 63; intellectual developmental disorder, x-linked 63, x-linked dominant; intellectual disability, x-linked type 63; non-syndromic x-linked intellectual disability caused by mutation in acsl4; xlid63","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Intellectual developmental disorder, x-linked 63 is a condition that affects how a person's brain develops and works. Peoople with this disorder may have a wide range of nonprogressive intellectual disability. It is caused by a change in a gene called ACSL4. This gene is located on the X chromosome, which is one of the two chromosomes that determine a person's sex. The condition is inherited in a way that is linked to the X chromosome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":null,"SourceID__c":"OMIM:300387","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010313","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 63 is a condition that affects how a person's brain develops and works. Peoople with this disorder may have a wide range of nonprogressive intellectual disability. It is caused by a change in a gene called ACSL4. This gene is located on the X chromosome, which is one of the two chromosomes that determine a person's sex. The condition is inherited in a way that is linked to the X chromosome.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"acsl4 non-syndromic x-linked intellectual disability; intellectual developmental disorder, x-linked 63; intellectual developmental disorder, x-linked 63, x-linked dominant; intellectual disability, x-linked type 63; non-syndromic x-linked intellectual disability caused by mutation in acsl4; xlid63","Name":"Intellectual disability, X-linked 63","estimateUsa":""}],"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:C1845672"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0005613","Source__c":"RareSource"},{"URL__c":"https://www.omim.org/entry/300387","Source__c":"C1845672; MONDO:0010313","Xref__c":"OMIM:300387"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337002","Source__c":"C1845672","Xref__c":"MEDGEN:337002"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845672","Source__c":"C1845672","Xref__c":"C1845672"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112050","Source__c":"MONDO:0010313","Xref__c":"DOID:0112050"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564522","Source__c":"MONDO:0010313","Xref__c":"C564522"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010313","Source__c":"GARD:0005613","Xref__c":"MONDO:0010313"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ACSL4","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:300387","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Intense feelings of nervousness, tension, or panic often arise in response to interpersonal stresses. There is worry about the negative effects of past unpleasant experiences and future negative possibilities. Individuals may feel fearful, apprehensive, or threatened by uncertainty, and they may also have fears of falling apart or losing control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000739","HPO_Synonym__c":"Anxiety; Anxiousness; Excessive, persistent worry and fear","HPO_Name__c":"Anxiety","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300387","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:300387","HPO_Frequency__c":"Occasional (5-29%)","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":"OMIM:300387","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:300387","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300387","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:300387","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"}}],"tags":{"Specialist":["Neurodevelopmental disabilities"]},"synonyms":["acsl4 non-syndromic x-linked intellectual disability"," intellectual developmental disorder, x-linked 63"," intellectual developmental disorder, x-linked 63, x-linked dominant"," intellectual disability, x-linked type 63"," non-syndromic x-linked intellectual disability caused by mutation in acsl4"," xlid63"]}