{"Name":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","DiseaseID__c":"GARD:0021762","id":21762,"encodedName":"microcephaly-complex-motor-and-sensory-axonal-neuropathy-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","Xref_IDs__c":"C4706585; MEDGEN:1637079; MONDO:0018507; ORPHA:423894","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":3,"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":3,"Description_Source__c":"MONDO:0018507","Disease_Description__c":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.","GARD_Name__c":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","GARD_Synonym__c":"microcephalus, complex motor and sensory axonal neuropathy syndrome; microcephaly, complex motor and sensory axonal neuropathy syndrome","Curated_Disease_Description_Source__c":"MONDO:0018507","Curated_Disease_Description__c":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:423894","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018507","ORPHANET_ID__c":"ORPHA:423894","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja","Spanish_Description_Source__c":"ORPHA:423894","Spanish_Description__c":"El síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja es un subtipo de neuropatía sensitivo-motora hereditaria extremadamente infrecuente caracterizado por polineuropatía simétrica distal grave rápidamente progresiva y microcefalia (que puede ser evidente in utero) con una cognición intacta. Clínicamente se presenta con retraso del desarrollo motor, hipotonía, reflejos osteotendinosos ausentes o reducidos, atrofia y debilidad muscular progresivas y escoliosis.","Spanish_Disease_Name__c":"síndrome de microcefalia-neuropatía axonal sensitivo-motora compleja","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:98006","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":"Microcephaly-complex motor and sensory axonal neuropathy syndrome is an extremely rare subtype of hereditary motor and sensory neuropathy characterized by severe, rapidly-progressing, distal, symmetric polyneuropathy and microcephaly (which can be evident in utero) with intact cognition. Clinically it presents with delayed motor development, hypotonia, absent or reduced deep tendon reflexes, progressive muscle wasting and weakness and scoliosis.","Curated_Disease_Description_Source__c":"MONDO:0018507","GARD_Synonym__c":"microcephalus, complex motor and sensory axonal neuropathy syndrome; microcephaly, complex motor and sensory axonal neuropathy syndrome","Name":"Microcephaly-complex motor and sensory axonal neuropathy syndrome","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":"Peripheral Neuropathy","Tag_Category__c":"Account","curated_tag_name":"Peripheral neuropathy"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:423894"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:423894"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:423894"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1637079","Source__c":"C4706585","Xref__c":"MEDGEN:1637079"},{"URL__c":"https://www.orpha.net/en/disease/detail/423894","Source__c":"C4706585; MONDO:0018507; ORPHA:423894","Xref__c":"ORPHA:423894"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4706585","Source__c":"C4706585","Xref__c":"C4706585"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763798008","Source__c":"C4706585","Xref__c":"763798008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018507","Source__c":"GARD:0021762","Xref__c":"MONDO:0018507"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"VRK1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/vrk1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Peripheral Neuropathy"]},"synonyms":["microcephalus, complex motor and sensory axonal neuropathy syndrome"," microcephaly, complex motor and sensory axonal neuropathy syndrome"]}