{"Name":"X-linked neurodegenerative syndrome, Hamel type","DiseaseID__c":"GARD:0019062","id":19062,"encodedName":"x-linked-neurodegenerative-syndrome-hamel-type","IsDeleted":false,"Disease_Name_Full__c":"X-linked neurodegenerative syndrome, Hamel type","Xref_IDs__c":"718847005; C4305135; MEDGEN:930804; MONDO:0019429; ORPHA:85336","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":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0019429","Disease_Description__c":"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.","GARD_Name__c":"X-linked neurodegenerative syndrome, Hamel type","GARD_Synonym__c":"x-linked neurodegenerative syndrome hamel type","Curated_Disease_Description_Source__c":"MONDO:0019429","Curated_Disease_Description__c":"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.","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:85336","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019429","ORPHANET_ID__c":"ORPHA:85336","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome neurodegenerativo ligado al cromosoma x tipo hamel","Spanish_Description_Source__c":"ORPHA:85336","Spanish_Description__c":"Es una discapacidad intelectual sindrómica ligada al cromosoma X caracterizada por un periodo de pocos meses de desarrollo normal seguido de un cuadro neurodegenerativo progresivo con pérdida gradual de la visión, desarrollo de tetraplejia espástica, crisis comiciales, microcefalia, fallo de medro y muerte prematura.","Spanish_Disease_Name__c":"síndrome neurodegenerativo ligado al cromosoma x tipo hamel","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":"An X-linked syndromic intellectual disability characterized by a few months of normal development, followed by progressive neurodegenerative course with gradual loss of vision, development of spastic tetraplegia, convulsions, microcephaly, failure to thrive, and early death.","Curated_Disease_Description_Source__c":"MONDO:0019429","GARD_Synonym__c":"x-linked neurodegenerative syndrome hamel type","Name":"X-linked neurodegenerative syndrome, Hamel 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":"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:85336"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:85336"}],"External_Identifier_Disease__c":[{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4305135","Source__c":"C4305135","Xref__c":"C4305135"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=718847005","Source__c":"C4305135; MONDO:0019429","Xref__c":"718847005"},{"URL__c":"https://www.orpha.net/en/disease/detail/85336","Source__c":"C4305135; MONDO:0019429; ORPHA:85336","Xref__c":"ORPHA:85336"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=930804","Source__c":"C4305135","Xref__c":"MEDGEN:930804"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019429","Source__c":"GARD:0019062","Xref__c":"MONDO:0019429"}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:85336","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:85336","HPO_Frequency__c":"Very frequent (80-99%)","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:85336","HPO_Frequency__c":"Very frequent (80-99%)","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:85336","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:85336","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Blindness is the condition of lacking visual perception defined as a profound reduction in visual perception. On the 6m visual acuity scale, blindness is defined as less than 3/60. On the 20ft visual acuity scale, blindness is defined as less than 20/400. On the decimal visual acuity scale, blindness is defined as less than 0.05. Blindness is typically characterized by a visual field of no greater than 10 degrees in radius around central fixation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000618","HPO_Synonym__c":"Blindness; Total vision loss","HPO_Name__c":"Blindness","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"]},"synonyms":["x-linked neurodegenerative syndrome hamel type"]}