{"Name":"Syndromic X-linked intellectual disability Shrimpton type","DiseaseID__c":"GARD:0016751","id":16751,"encodedName":"syndromic-x-linked-intellectual-disability-shrimpton-type","IsDeleted":false,"Disease_Name_Full__c":"Syndromic X-linked intellectual disability Shrimpton type","Xref_IDs__c":"C2678039; C567474; DOID:0060813; MEDGEN:395523; MONDO:0010409; OMIM:300709; ORPHA:85324","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":2,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010409","Disease_Description__c":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.","GARD_Name__c":"Syndromic X-linked intellectual disability Shrimpton type","GARD_Synonym__c":"intellectual disability, x-linked, syndromic 9; mrxs9; x-linked intellectual disability, shrimpton type","Curated_Disease_Description_Source__c":"MONDO:0010409","Curated_Disease_Description__c":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.","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:85324","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010409","ORPHANET_ID__c":"ORPHA:85324","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discapacidad intelectual ligada al cromosoma x tipo shrimpton","Spanish_Description_Source__c":"ORPHA:85324","Spanish_Description__c":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por una discapacidad intelectual grave, microcefalia y talla baja en los pacientes varones. También se han descrito estrabismo y diplejía espástica.","Spanish_Disease_Name__c":"discapacidad intelectual ligada al cromosoma x tipo shrimpton","Spanish_GARD_Synonym__c":"mrxs9","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":"An X-linked syndromic intellectual disability characterised by severe intellectual disability, microcephaly and short stature in male patients. Strabismus and spastic diplegia have also been described.","Curated_Disease_Description_Source__c":"MONDO:0010409","GARD_Synonym__c":"intellectual disability, x-linked, syndromic 9; mrxs9; x-linked intellectual disability, shrimpton type","Name":"Syndromic X-linked intellectual disability Shrimpton type","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:85324"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85324"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C567474","Source__c":"MONDO:0010409","Xref__c":"C567474"},{"URL__c":"https://www.omim.org/entry/300709","Source__c":"C2678039; MONDO:0010409; ORPHA:85324","Xref__c":"OMIM:300709"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060813","Source__c":"MONDO:0010409","Xref__c":"DOID:0060813"},{"URL__c":"https://www.orpha.net/en/disease/detail/85324","Source__c":"C2678039; MONDO:0010409; ORPHA:85324","Xref__c":"ORPHA:85324"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=395523","Source__c":"C2678039","Xref__c":"MEDGEN:395523"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2678039","Source__c":"C2678039","Xref__c":"C2678039"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010409","Source__c":"GARD:0016751","Xref__c":"MONDO:0010409"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85324","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":"ORPHA:85324","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:85324","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85324","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormally increased height of the forehead.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000348","HPO_Synonym__c":"High forehead","HPO_Name__c":"High forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85324","HPO_Frequency__c":"Very frequent (80-99%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["intellectual disability, x-linked, syndromic 9"," mrxs9"," x-linked intellectual disability, shrimpton type"]}