{"Name":"Early-onset parkinsonism-intellectual disability syndrome","DiseaseID__c":"GARD:0003203","id":3203,"encodedName":"early-onset-parkinsonism-intellectual-disability-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Early-onset parkinsonism-intellectual disability syndrome","Xref_IDs__c":"716107009; C0796195; C184991; C537179; DOID:0111781; MEDGEN:208674; MONDO:0010709; OMIM:311510; ORPHA:2379","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":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0010709","Disease_Description__c":"A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.","GARD_Name__c":"Early-onset parkinsonism-intellectual disability syndrome","GARD_Synonym__c":"early onset parkinsonism and intellectual disability syndrome; laxova brown hogan syndrome; laxova opitz syndrome; laxova-opitz syndrome; waisman syndrome; waisman syndrome, x-linked recessive; wsmn","Curated_Disease_Description_Source__c":"MONDO:0010709","Curated_Disease_Description__c":"A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant","SourceID__c":"ORPHA:2379","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010709","ORPHANET_ID__c":"ORPHA:2379","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de parkinsonismo de inicio precoz-discapacidad intelectual","Spanish_Description_Source__c":"ORPHA:2379","Spanish_Description__c":"Es una discapacidad intelectual sindrómica ligada al cromosoma X poco frecuente caracterizada por un déficit intelectual no progresivo de inicio en la lactancia (con retraso del desarrollo psicomotor, afectación cognitiva y macrocefalia) y parkinsonismo de inicio precoz (antes de los 45 años), afectando a pacientes varones.","Spanish_Disease_Name__c":"síndrome de parkinsonismo de inicio precoz-discapacidad intelectual","Spanish_GARD_Synonym__c":"síndrome de laxova-opitz; síndrome de waisman","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":"A rare X-linked syndromic intellectual disability characterized by infantile-onset non-progressive intellectual deficit (with psychomotor developmental delay, cognitive impairment and macrocephaly) and early-onset parkinsonism (before 45 years of age), in male patients.","Curated_Disease_Description_Source__c":"MONDO:0010709","GARD_Synonym__c":"early onset parkinsonism and intellectual disability syndrome; laxova brown hogan syndrome; laxova opitz syndrome; laxova-opitz syndrome; waisman syndrome; waisman syndrome, x-linked recessive; wsmn","Name":"Early-onset parkinsonism-intellectual disability syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"American Parkinson Disease Association","Website__c":"https://www.apdaparkinson.org/"},{"Account_Name__c":"Parkinson's Foundation","Website__c":"https://www.parkinson.org/"},{"Account_Name__c":"Michael J. Fox Foundation for Parkinson's Research","Website__c":"https://www.michaeljfox.org/"},{"Account_Name__c":"Parkinson & Movement Disorder Alliance","Website__c":"https://www.pmdalliance.org/"},{"Account_Name__c":"International Parkinson and Movement Disorder Society","Website__c":"https://www.movementdisorders.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":"Parkinsonism","Tag_Category__c":"Account","curated_tag_name":"Parkinsonism"},{"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:2379"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C0796195"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0003203","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C0796195","Source__c":"C0796195","Xref__c":"C0796195"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=208674","Source__c":"C0796195","Xref__c":"MEDGEN:208674"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716107009","Source__c":"C0796195; MONDO:0010709","Xref__c":"716107009"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0111781","Source__c":"MONDO:0010709","Xref__c":"DOID:0111781"},{"URL__c":"https://www.orpha.net/en/disease/detail/2379","Source__c":"C0796195; MONDO:0010709; ORPHA:2379","Xref__c":"ORPHA:2379"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C537179","Source__c":"MONDO:0010709","Xref__c":"C537179"},{"URL__c":"https://www.omim.org/entry/311510","Source__c":"C0796195; MONDO:0010709; ORPHA:2379","Xref__c":"OMIM:311510"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C184991","Source__c":"C0796195","Xref__c":"C184991"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010709","Source__c":"GARD:0003203","Xref__c":"MONDO:0010709"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"RAB39B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002007","HPO_Synonym__c":"Frontal protuberance; Skull bossing","HPO_Name__c":"Frontal bossing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000256","HPO_Synonym__c":"Increased size of cranium; Increased size of skull; Large head; Large head circumference; Macrocephalus; Macrocrania; Megacephaly","HPO_Name__c":"Macrocephaly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of movement with a neurological basis characterized by changes in coordination and speed of voluntary movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100022","HPO_Synonym__c":"Abnormality of movement; Movement disorder; Unusual movement","HPO_Name__c":"Abnormality of movement","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","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:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of rigidity in which a muscle responds with cogwheellike jerks to the use of constant force in bending the limb (i.e., it gives way in little, repeated jerks when the muscle is passively stretched).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002396","HPO_Name__c":"Cogwheel rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","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":"ORPHA:2379","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2379","HPO_Frequency__c":"Frequent (30-79%)","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"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Parkinsonism"]},"synonyms":["early onset parkinsonism and intellectual disability syndrome"," laxova brown hogan syndrome"," laxova opitz syndrome"," laxova-opitz syndrome"," waisman syndrome"," waisman syndrome, x-linked recessive"," wsmn"]}