{"Name":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","DiseaseID__c":"GARD:0004437","id":4437,"encodedName":"porencephaly-cerebellar-hypoplasia-internal-malformations-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","Xref_IDs__c":"763821001; C1832472; C536336; MEDGEN:331296; MONDO:0011036; OMIM:601322; ORPHA:2941","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":2,"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":1,"Disease_Characteristics_Score__c":5,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0011036","Disease_Description__c":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.","GARD_Name__c":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","GARD_Synonym__c":"bonnemann meinecke syndrome; bonnemann-meinecke syndrome; porencephaly cerebellar hypoplasia internal malformations; porencephaly, cerebellar hypoplasia, and internal malformations","Curated_Disease_Description_Source__c":"MONDO:0011036","Curated_Disease_Description__c":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:2941","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011036","ORPHANET_ID__c":"ORPHA:2941","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas","Spanish_Description_Source__c":"ORPHA:2941","Spanish_Description__c":"El síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas es un síndrome de malformación del sistema nervioso central poco frecuente caracterizado por porencefalia bilateral, ausencia del septum pellucidum e hipoplasia cerebelosa con vermis ausente. Además, se han observado rasgos faciales dismórficos (hipertelorismo, pliegues epicánticos, paladar alto y arqueado, sutura metópica prominente), macrocefalia, opacidad corneal, situs inversus, tetralogía de Fallot, defectos del tabique auricular y / o convulsiones.","Spanish_Disease_Name__c":"síndrome de porencefalia-hipoplasia cerebelosa-malformaciones internas","Spanish_GARD_Synonym__c":"síndrome de bonnemann-meinecke","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":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome is rare central nervous system malformation syndrome characterized by bilateral porencephaly, absence of the septum pellucidum and cerebellar hypoplasia with absent vermis. Additionally, dysmorphic facial features (hypertelorism, epicanthic folds, high arched palate, prominent metopic suture), macrocephaly, corneal clouding, situs inversus, tetralogy of Fallot, atrial septal defects and/or seizures have been observed.","Curated_Disease_Description_Source__c":"MONDO:0011036","GARD_Synonym__c":"bonnemann meinecke syndrome; bonnemann-meinecke syndrome; porencephaly cerebellar hypoplasia internal malformations; porencephaly, cerebellar hypoplasia, and internal malformations","Name":"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"GARD_Disease_Tag__c":[{"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:2941"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:2941"}],"External_Identifier_Disease__c":[{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=763821001","Source__c":"MONDO:0011036","Xref__c":"763821001"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536336","Source__c":"MONDO:0011036","Xref__c":"C536336"},{"URL__c":"https://www.orpha.net/en/disease/detail/2941","Source__c":"C1832472; MONDO:0011036","Xref__c":"ORPHA:2941"},{"URL__c":"https://www.omim.org/entry/601322","Source__c":"C1832472; MONDO:0011036; ORPHA:2941","Xref__c":"OMIM:601322"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=331296","Source__c":"C1832472","Xref__c":"MEDGEN:331296"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1832472","Source__c":"C1832472","Xref__c":"C1832472"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011036","Source__c":"GARD:0004437","Xref__c":"MONDO:0011036"}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"Atrial septal defect (ASD) is a congenital abnormality of the interatrial septum that enables blood flow between the left and right atria via the interatrial septum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001631","HPO_Synonym__c":"An opening in the wall separating the top two chambers of the heart; ASD; Atria septal defect; Atrial septum defect; Atrioseptal defect; Defect in the atrial septum; Hole in heart wall separating two upper heart chambers","HPO_Name__c":"Atrial septal defect","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"A congenital cardiac malformation comprising pulmonary stenosis, overriding aorta, ventricular septum defect, and right ventricular hypertrophy. The diagnosis of TOF is made if at least three of the four above mentioned features are present.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001636","HPO_Synonym__c":"Tetrology of fallot","HPO_Name__c":"Tetralogy of Fallot","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"Congenital absence of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002335","HPO_Synonym__c":"Cerebellar vermis aplasia; Vermian agenesis","HPO_Name__c":"Agenesis of cerebellar vermis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:601322","Feature__r":{"HPO_Description__c":"A cavity within the cerebral hemisphere, filled with cerebrospinal fluid, that communicates directly with the ventricular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002132","HPO_Synonym__c":"Cavity within brain","HPO_Name__c":"Porencephalic cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Disease Category":["Neurology","Congenital Abnormality"],"Specialist":["Neurology","Pediatrics"]},"synonyms":["bonnemann meinecke syndrome"," bonnemann-meinecke syndrome"," porencephaly cerebellar hypoplasia internal malformations"," porencephaly, cerebellar hypoplasia, and internal malformations"]}