{"Name":"Syndromic X-linked intellectual disability Siderius type","DiseaseID__c":"GARD:0009704","id":9704,"encodedName":"syndromic-x-linked-intellectual-disability-siderius-type","IsDeleted":false,"Disease_Name_Full__c":"Syndromic X-linked intellectual disability Siderius type","Xref_IDs__c":"C1846055; C537333; DOID:0060812; MEDGEN:337375; MONDO:0010286; OMIM:300263; ORPHA:85287","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:85287","Disease_Description__c":"X-linked intellectual disability, Siderius type is characterised by mild to borderline intellectual deficit associated with cleft lip/palate. Preaxial polydactyly, large hands and cryptorchidism are sometimes present. The syndrome has been described in seven boys from two families. Transmission is X-linked and the syndrome is caused by mutations in the <i>PHF8</i> gene, localised to the p11.21 region of the X chromosome.","GARD_Name__c":"Syndromic X-linked intellectual disability Siderius type","GARD_Synonym__c":"intellectual developmental disorder, x-linked, syndromic, siderius type; intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive; intellectual disability syndrome, x-linked, siderius type; mrxssd; siderius x-linked intellectual disability syndrome; siderius-hamel syndrome; x-linked intellectual disability siderius type; x-linked intellectual disability, siderius type","Curated_Disease_Description_Source__c":"ORPHA:85287","Curated_Disease_Description__c":"X-linked intellectual disability, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip. Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.","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:85287","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010286","ORPHANET_ID__c":"ORPHA:85287","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Discapacidad intelectual ligada al cromosoma x tipo siderius","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"discapacidad intelectual ligada al cromosoma x tipo siderius","Spanish_GARD_Synonym__c":null,"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, Siderius type is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed. Individuals with X-linked intellectual disability, Siderius type frequently also have an opening in the lip (cleft lip) with an opening in the roof of the mouth (cleft palate). A cleft can occur on one or both sides of the upper lip. Some boys and men with this condition have distinctive facial features, including a long face, a sloping forehead, a broad nasal bridge, a prominent bone in the lower forehead (supraorbital ridge), and outside corners of the eyes that point upward (upslanting palpebral fissures). Affected individuals may also have low-set ears and large hands.","Curated_Disease_Description_Source__c":"ORPHA:85287","GARD_Synonym__c":"intellectual developmental disorder, x-linked, syndromic, siderius type; intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive; intellectual disability syndrome, x-linked, siderius type; mrxssd; siderius x-linked intellectual disability syndrome; siderius-hamel syndrome; x-linked intellectual disability siderius type; x-linked intellectual disability, siderius type","Name":"Syndromic X-linked intellectual disability Siderius 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":"Neonatal","Provided_By__c":"ORPHA:85287"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:85287"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1846055"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009704","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/85287","Source__c":"C1846055; MONDO:0010286","Xref__c":"ORPHA:85287"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337375","Source__c":"C1846055","Xref__c":"MEDGEN:337375"},{"URL__c":"https://www.omim.org/entry/300263","Source__c":"C1846055; MONDO:0010286; ORPHA:85287","Xref__c":"OMIM:300263"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537333","Source__c":"MONDO:0010286","Xref__c":"C537333"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060812","Source__c":"MONDO:0010286","Xref__c":"DOID:0060812"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1846055","Source__c":"C1846055","Xref__c":"C1846055"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010286","Source__c":"GARD:0009704","Xref__c":"MONDO:0010286"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-intellectual-disability-siderius-type","Source__c":"GARD:0009704","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-intellectual-disability-siderius-type"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718908009","Source__c":"C1846055","Xref__c":"718908009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PHF8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/phf8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001177","HPO_Synonym__c":"Extra thumb; Polydactyly affecting the thumb; Preaxial polydactyly of hands; Supernumerary thumb; thumb polydactyly","HPO_Name__c":"Preaxial hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced volume of the testicle (the male gonad).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008734","HPO_Synonym__c":"Decreased testicular size; Decreased testicular volume; Hypoplastic testes; Reduced testicular volume; Small testes; Small testis; Testicular hypoplasia","HPO_Name__c":"Decreased testicular size","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A gap or groove in the upper lip. This is a congenital defect resulting from nonfusion of tissues of the lip during embryonal development.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000204","HPO_Synonym__c":"Cheiloschisis of upper lip; Cleft upper lip; Harelip","HPO_Name__c":"Cleft upper lip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001176","HPO_Synonym__c":"Disproportionately large hands; large hand; Large hands","HPO_Name__c":"Large hands","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Meeting of the medial eyebrows in the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000664","HPO_Synonym__c":"Monobrow; Synophris; Unibrow","HPO_Name__c":"Synophrys","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hair on the neck extends more inferiorly than usual.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002162","HPO_Synonym__c":"Low hairline at back of neck; Low posterior hair line","HPO_Name__c":"Low posterior hairline","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Increase in width of the nasal tip.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000455","HPO_Synonym__c":"Broad nasal tip; Broad tip of nose; Broad, upturned nose; Increased breadth of nasal tip; Increased breadth of tip of nose; Increased width of nasal tip; Increased width of tip of nose; Nasal tip, broad; Nasal tip, wide; Wide tip of nose","HPO_Name__c":"Broad nasal tip","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85287","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["intellectual developmental disorder, x-linked, syndromic, siderius type"," intellectual developmental disorder, x-linked, syndromic, siderius type, x-linked recessive"," intellectual disability syndrome, x-linked, siderius type"," mrxssd"," siderius x-linked intellectual disability syndrome"," siderius-hamel syndrome"," x-linked intellectual disability siderius type"," x-linked intellectual disability, siderius type"]}