{"Name":"Syndromic X-linked intellectual disability Shashi type","DiseaseID__c":"GARD:0004119","id":4119,"encodedName":"syndromic-x-linked-intellectual-disability-shashi-type","IsDeleted":false,"Disease_Name_Full__c":"Syndromic X-linked intellectual disability Shashi type","Xref_IDs__c":"718900002; C1846145; C537135; DOID:0060826; MEDGEN:335348; MONDO:0010277; OMIM:300238; ORPHA:85286","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":7,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010277","Disease_Description__c":"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.","GARD_Name__c":"Syndromic X-linked intellectual disability Shashi type","GARD_Synonym__c":"intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic 11; intellectual disability, x-linked, syndromic 11, shashi type; mrxs11; shashi x-linked intellectual disability syndrome; smrxs; syndromic x-linked intellectual disability type 11; x-linked intellectual disability shashi type; x-linked intellectual disability, shashi type","Curated_Disease_Description_Source__c":"MONDO:0010277","Curated_Disease_Description__c":"X-linked intellectual disability, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.","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:85286","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010277","ORPHANET_ID__c":"ORPHA:85286","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discapacidad intelectual ligada al cromosoma x tipo shashi","Spanish_Description_Source__c":"ORPHA:85286","Spanish_Description__c":"Es un trastorno caracterizado por déficit intelectual moderado, obesidad, macroorquidia y facies característica (orejas grandes, labio inferior prominente y párpados hinchados). Se ha descrito en nueve niños de dos familias. La transmisión está ligada al cromosoma X y el gen causal ha sido localizado en la región q21.3-q27 del cromosoma X.","Spanish_Disease_Name__c":"discapacidad intelectual ligada al cromosoma x tipo shashi","Spanish_GARD_Synonym__c":"discapacidad intelectual sindrómica ligada al cromosoma x tipo 11","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, Shashi type is characterised by moderate intellectual deficit, obesity, macroorchidism and a characteristic facies (large ears, a prominent lower lip and puffy eyelids). It has been described in nine boys from two families. Transmission is X-linked and the causative gene has been localised to the q21.3-q27 region of the X chromosome.","Curated_Disease_Description_Source__c":"MONDO:0010277","GARD_Synonym__c":"intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive; intellectual developmental disorder, x-linked, syndromic 11; intellectual disability, x-linked, syndromic 11, shashi type; mrxs11; shashi x-linked intellectual disability syndrome; smrxs; syndromic x-linked intellectual disability type 11; x-linked intellectual disability shashi type; x-linked intellectual disability, shashi type","Name":"Syndromic X-linked intellectual disability Shashi type","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"FACES: The National Craniofacial Association","Website__c":"https://www.faces-cranio.org/"},{"Account_Name__c":"Ameriface","Website__c":"http://www.ameriface.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":"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":"Neonatal","Provided_By__c":"ORPHA:85286"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85286"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846145","Source__c":"C1846145","Xref__c":"C1846145"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335348","Source__c":"C1846145","Xref__c":"MEDGEN:335348"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537135","Source__c":"MONDO:0010277","Xref__c":"C537135"},{"URL__c":"https://www.orpha.net/en/disease/detail/85286","Source__c":"C1846145; MONDO:0010277","Xref__c":"ORPHA:85286"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060826","Source__c":"MONDO:0010277","Xref__c":"DOID:0060826"},{"URL__c":"https://www.omim.org/entry/300238","Source__c":"C1846145; MONDO:0010277; ORPHA:85286","Xref__c":"OMIM:300238"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718900002","Source__c":"MONDO:0010277","Xref__c":"718900002"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010277","Source__c":"GARD:0004119","Xref__c":"MONDO:0010277"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RBMX","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000581","HPO_Synonym__c":"Decreased width of palpebral fissure; Narrow opening between the eyelids","HPO_Name__c":"Blepharophimosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal configuration of the lower lip such that it is turned outward i.e., everted, with the Inner aspect of the lower lip vermilion (normally opposing the teeth) being visible in a frontal view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000232","HPO_Synonym__c":"Drooping lower lip; Eclabium of lower lip; Everted lower lip; Everted prominent lower lip; Outward turned lower lip","HPO_Name__c":"Everted lower lip vermilion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of substantial excess body fat.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001513","HPO_Synonym__c":"Having too much body fat; Obesity","HPO_Name__c":"Obesity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","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":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","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:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Greater than average forward and/or lateral protrusion of the supraorbital portion of the frontal bones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000336","HPO_Synonym__c":"Prominent brow; Prominent supraorbital margins; Prominent supraorbital ridge; Protruding supraorbital ridge; Supraorbital hyperostosis","HPO_Name__c":"Prominent supraorbital ridges","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of abnormally large testes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000053","HPO_Synonym__c":"Large testicles; Large testis","HPO_Name__c":"Macroorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increased volume and globular shape of the anteroinferior aspect of the nose.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000414","HPO_Synonym__c":"Bulbous nose","HPO_Name__c":"Bulbous nose","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","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:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Edema in the region of the eyelids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100540","HPO_Synonym__c":"Edema of the eyelids; Eyelid edema; Fullness of eyelids; Puffy eyelids; Puffy lids; Swelling of eyelids","HPO_Name__c":"Palpebral edema","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85286","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Moderate intellectual disability (ID) is defined as a type of ID characterized by moderately sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 35-49.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002342","HPO_Synonym__c":"Intellectual disability, moderate; IQ between 34 and 49; Mental retardation, moderate; Moderate mental deficiency; Moderate mental retardation","HPO_Name__c":"Moderate intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["intellectual developmental disorder, syndromic 11, shashi type, x-linked recessive"," intellectual developmental disorder, x-linked, syndromic 11"," intellectual disability, x-linked, syndromic 11, shashi type"," mrxs11"," shashi x-linked intellectual disability syndrome"," smrxs"," syndromic x-linked intellectual disability type 11"," x-linked intellectual disability shashi type"," x-linked intellectual disability, shashi type"]}