{"Name":"Diencephalic-mesencephalic junction dysplasia","DiseaseID__c":"GARD:0021407","id":21407,"encodedName":"diencephalic-mesencephalic-junction-dysplasia","IsDeleted":false,"Disease_Name_Full__c":"Diencephalic-mesencephalic junction dysplasia","Xref_IDs__c":"C4707858; MEDGEN:1641855; MONDO:0017868; OMIMPS:251280; ORPHA:319192","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0017868","Disease_Description__c":"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.","GARD_Name__c":"Diencephalic-mesencephalic junction dysplasia","GARD_Synonym__c":"diencephalic mesencephalic junction dysplasia; diencephalic-mesencephalic junction dysplasia syndrome","Curated_Disease_Description_Source__c":"MONDO:0017868","Curated_Disease_Description__c":"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:319192","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0017868","ORPHANET_ID__c":"ORPHA:319192","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Displasia de la unión diencéfalo-mesencefálica","Spanish_Description_Source__c":"ORPHA:319192","Spanish_Description__c":"Es una malformación cerebral no sindrómica, genética poco frecuente, caracterizada por grave discapacidad intelectual, microcefalia postnatal progresiva, hipotonía axial, cuadriparesia espástica, convulsiones y dismorfia facial (cejas pobladas, hipertricosis frontal, raíz nasal ancha, filtrum plano y largo, labio superior en forma de V invertida). Adicionalmente, también pueden asociarse pie equinovaro, miocardiopatía no obstructiva, vítreo primario hiperplásico persistente, hidrocefalia obstructiva y rasgos autistas. En las imágenes de resonancia magnética cerebral, es característico el \"signo de mariposa\" y también se han descrito calcificaciones corticales, agenesia del cuerpo calloso, ventriculomegalia, displasia del tronco encefálico e hipoplasia del vermis cerebeloso.","Spanish_Disease_Name__c":"displasia de la unión diencéfalo-mesencefálica","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":"Diencephalic-mesencephalic junction dysplasia is a rare, genetic, non-syndromic cerebral malformation characterized by severe intellectual disability, progressive postnatal microcephaly, axial hypotonia, spastic quadriparesis, seizures and facial dysmorphism (bushy eyebrows, hairy forehead, broad nasal root, long flat philtrum, V-shaped upper lip). Additionaly, talipes equinovarus, non-obstructive cardiomyopathy, persistent hyperplastic primary vitreous, obstructive hydrocephalus and autistic features may also be associated. On brain magnetic resonance imaging, the 'butterfly sign' is characterisitcally observed and cortical calcifications, agenesis of the corpus callosum, ventriculomegaly, brainstem dysplasia and cerebellar vermis hypoplasia have also been described.","Curated_Disease_Description_Source__c":"MONDO:0017868","GARD_Synonym__c":"diencephalic mesencephalic junction dysplasia; diencephalic-mesencephalic junction dysplasia syndrome","Name":"Diencephalic-mesencephalic junction dysplasia","estimateUsa":""}],"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":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:319192"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:319192"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1641855","Source__c":"C4707858","Xref__c":"MEDGEN:1641855"},{"URL__c":"https://www.orpha.net/en/disease/detail/319192","Source__c":"C4707858; MONDO:0017868; ORPHA:319192","Xref__c":"ORPHA:319192"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4707858","Source__c":"C4707858","Xref__c":"C4707858"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS251280","Source__c":"MONDO:0017868","Xref__c":"OMIMPS:251280"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0017868","Source__c":"GARD:0021407","Xref__c":"MONDO:0017868"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=766871009","Source__c":"C4707858","Xref__c":"766871009"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PCDH12","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"GSX2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Pediatrics"]},"synonyms":["diencephalic mesencephalic junction dysplasia"," diencephalic-mesencephalic junction dysplasia syndrome"]}