{"Name":"Intellectual disability, X-linked 1","DiseaseID__c":"GARD:0022699","id":22699,"encodedName":"intellectual-disability-x-linked-1","IsDeleted":false,"Disease_Name_Full__c":"Intellectual disability, X-linked 1","Xref_IDs__c":"C133729; C2931498; C564489; C567906; DOID:0112038; MEDGEN:444070; MONDO:0010656; OMIM:309530; ORPHA:397933","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010656","Disease_Description__c":"An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene, encoding IQ motif and SEC7 domain-containing protein 2. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.","GARD_Name__c":"Intellectual disability, X-linked 1","GARD_Synonym__c":"atkin flaitz patil smith syndrome; intellectual developmental disorder, x-linked 1; intellectual developmental disorder, x-linked 1, x-linked dominant; iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability; iqsec2-related disorder; iqsec2-related syndromic intellectual disability; mental retardation, x-linked, nonspecific; mrx; severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome; xlid1","Curated_Disease_Description_Source__c":"C2931498","Curated_Disease_Description__c":"An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene on chromosome Xp11. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"OMIM:309530","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010656","ORPHANET_ID__c":"ORPHA:397933","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de discapacidad intelectual grave-microcefalia postnatal progresiva-movimientos estereotipados de las manos en la línea media","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de discapacidad intelectual grave-microcefalia postnatal progresiva-movimientos estereotipados de las manos en la línea media","Spanish_GARD_Synonym__c":"discapacidad intelectual sindrómica asociada a iqsec2","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":"An X-linked dominant condition caused by mutation(s) in the IQSEC2 gene on chromosome Xp11. It is characterized by substantially impaired intellectual functioning and behavioral abnormalities.","Curated_Disease_Description_Source__c":"C2931498","GARD_Synonym__c":"atkin flaitz patil smith syndrome; intellectual developmental disorder, x-linked 1; intellectual developmental disorder, x-linked 1, x-linked dominant; iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability; iqsec2-related disorder; iqsec2-related syndromic intellectual disability; mental retardation, x-linked, nonspecific; mrx; severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome; xlid1","Name":"Intellectual disability, X-linked 1","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Simons Searchlight","Website__c":"https://www.simonssearchlight.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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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:397933"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:397933"}],"External_Identifier_Disease__c":[{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C133729","Source__c":"C2931498; MONDO:0010656","Xref__c":"C133729"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C564489","Source__c":"MONDO:0010656","Xref__c":"C564489"},{"URL__c":"https://www.omim.org/entry/309530","Source__c":"C2931498; MONDO:0010656; ORPHA:397933","Xref__c":"OMIM:309530"},{"URL__c":"https://www.orpha.net/en/disease/detail/397933","Source__c":"MONDO:0010656","Xref__c":"ORPHA:397933"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567906","Source__c":"MONDO:0010656","Xref__c":"C567906"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=444070","Source__c":"C2931498","Xref__c":"MEDGEN:444070"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112038","Source__c":"MONDO:0010656","Xref__c":"DOID:0112038"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2931498","Source__c":"C2931498","Xref__c":"C2931498"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010656","Source__c":"GARD:0022699","Xref__c":"MONDO:0010656"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=774149004","Source__c":"C2931498","Xref__c":"774149004"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IQSEC2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Habitual clasping and wringing of the hands in the middle of the body, similar to a hand-washing movement.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012171","HPO_Synonym__c":"Hand clasping; Hand-wringing; Handwringing","HPO_Name__c":"Stereotypical hand wringing","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and sex-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000253","HPO_Synonym__c":"Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull","HPO_Name__c":"Progressive microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Nystagmus consisting of horizontal to-and-fro eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000666","HPO_Synonym__c":"Nystagmus, horizontal","HPO_Name__c":"Horizontal nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Uncontrolled episodes of crying occur without any apparent motivating stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030215","HPO_Synonym__c":"Cry frequently for no reason; Cry frequently without apparent cause; Cry frequently without cause; Cry frequently without reason; Frequently cries for no reason; Frequently cries without apparent cause; Frequently cries without cause; Frequently cries without reason; Inappropriate crying","HPO_Name__c":"Inappropriate crying","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Motor hyperactivity with excessive movement of muscles of the body as a whole.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002487","HPO_Synonym__c":"Hyperactive movements; Hyperkinesia; Hyperkinesis","HPO_Name__c":"Hyperkinetic movements","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduced ability to participate in the back-and-forth flow of social interaction appropriate to culture and developmental level, which is normally characterized by an influence of the behavior of one person on the behavior of another person. This results in difficulty interacting with others through emotional, physical, or verbal communication.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012760","HPO_Synonym__c":"Impaired social interaction; Impaired social interactions; Impaired social reciprocity; Poor social interactions","HPO_Name__c":"Reduced social responsiveness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","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:397933","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:397933","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","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:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Self-aggression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100716","HPO_Synonym__c":"Autoagression; Self injury; Self-harm; Self-injurious behavior; Self-injurious behaviors","HPO_Name__c":"Self-injurious behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Median longitudinal ear length greater than two standard deviations above the mean and median ear width greater than two standard deviations above the mean (objective); or, apparent increase in length and width of the pinna (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000400","HPO_Synonym__c":"Large ears; Large pinnae","HPO_Name__c":"Macrotia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:397933","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Complete lack of development of speech and language abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001344","HPO_Synonym__c":"Absent speech development; Lack of language development; Lack of speech; No speech development; No speech or language development; Nonverbal","HPO_Name__c":"Absent speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["atkin flaitz patil smith syndrome"," intellectual developmental disorder, x-linked 1"," intellectual developmental disorder, x-linked 1, x-linked dominant"," iqsec2 (iq motif and sec7 domain 2) related syndromic intellectual disability"," iqsec2-related disorder"," iqsec2-related syndromic intellectual disability"," mental retardation, x-linked, nonspecific"," mrx"," severe intellectual disability, progressive postnatal microcephaly, midline stereotypic hand movements syndrome"," xlid1"]}