{"Name":"Cobblestone lissencephaly without muscular or ocular involvement","DiseaseID__c":"GARD:0017526","id":17526,"encodedName":"cobblestone-lissencephaly-without-muscular-or-ocular-involvement","IsDeleted":false,"Disease_Name_Full__c":"Cobblestone lissencephaly without muscular or ocular involvement","Xref_IDs__c":"C3554657; DOID:0112230; MEDGEN:767571; MONDO:0014077; OMIM:615191; ORPHA:352682","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":5,"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":2,"Description_Source__c":"MONDO:0014077","Disease_Description__c":"A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.","GARD_Name__c":"Cobblestone lissencephaly without muscular or ocular involvement","GARD_Synonym__c":"cobblestone lissencephaly without muscular or eye involvement; leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus; lissencephaly 5; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement; lissencephaly type 5","Curated_Disease_Description_Source__c":"MONDO:0014077","Curated_Disease_Description__c":"A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:352682","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0014077","ORPHANET_ID__c":"ORPHA:352682","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia en empedrado sin afectación muscular u ocular","Spanish_Description_Source__c":"ORPHA:352682","Spanish_Description__c":"Es un tipo de lisencefalia en empedrado, genética y poco frecuente. Se caracteriza por la presencia de una constelación de malformaciones cerebrales que incluyen anomalías de los giros y surcos corticales, anomalías en la señal de la sustancia blanca, displasia cerebelosa e hipoplasia del tronco encefálico, que se presenta aislada o junto con anomalías musculares y oculares mínimas. Típicamente se manifiesta con grave retraso del desarrollo, aumento del perímetro cefálico, hidrocefalia y crisis epilépticas.","Spanish_Disease_Name__c":"lisencefalia en empedrado sin afectación muscular u ocular","Spanish_GARD_Synonym__c":"lisencefalia en empedrado sin afectación muscular o del ojo; lisencefalia tipo 2 sin afectación muscular o del ojo; lisencefalia tipo 2 sin afectación muscular u ocular","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":"A rare, genetic, cobblestone lissencephaly disease characterized by the presence of a constellation of brain malformations, including cortical gyral and sulcus anomalies, white matter signal abnormalities, cerebellar dysplasia and brainstem hypoplasia, existing alone or in conjunction with minimal muscular and ocular abnormalities, typically manifesting with severe developmental delay, increased head circumference, hydrocephalus and seizures.","Curated_Disease_Description_Source__c":"MONDO:0014077","GARD_Synonym__c":"cobblestone lissencephaly without muscular or eye involvement; leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus; lissencephaly 5; lissencephaly type 2 without muscular or eye involvement; lissencephaly type 2 without muscular or ocular involvement; lissencephaly type 5","Name":"Cobblestone lissencephaly without muscular or ocular involvement","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Child Neurology Foundation","Website__c":"https://www.childneurologyfoundation.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":"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"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:352682"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:352682"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112230","Source__c":"MONDO:0014077","Xref__c":"DOID:0112230"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=767571","Source__c":"C3554657","Xref__c":"MEDGEN:767571"},{"URL__c":"https://www.orpha.net/en/disease/detail/352682","Source__c":"C3554657; MONDO:0014077","Xref__c":"ORPHA:352682"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C3554657","Source__c":"C3554657","Xref__c":"C3554657"},{"URL__c":"https://www.omim.org/entry/615191","Source__c":"C3554657; MONDO:0014077","Xref__c":"OMIM:615191"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0014077","Source__c":"GARD:0017526","Xref__c":"MONDO:0014077"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"LAMB1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000648","HPO_Synonym__c":"Optic nerve atrophy; Optic-nerve degeneration","HPO_Name__c":"Optic atrophy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormal gyral pattern characterized by abnormalities of sulcal depth or orientation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032398","HPO_Name__c":"Dysgyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:352682","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"Abnormal results of investigations using electromyography (EMG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003457","HPO_Synonym__c":"Abnormal electromyography finding; Abnormal EMG; Electromyogram abnormal; EMG abnormalities","HPO_Name__c":"EMG abnormality","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Procedure_EMG"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of encephalocele (that is, a a protrusion of part of the cranial contents including brain tissue through a congenital opening in the cranium, typically covered with skin or mucous membrane) in the occipital region of the skull. Occipital encephalocele presents as a midline swelling over the occipital bone. It is usually covered with normal full-thickness scalp.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002085","HPO_Synonym__c":"Brain tissue sticks out through back of skull; Occipital meningoencephalocele; Posterior encephalocele","HPO_Name__c":"Occipital encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of lissencephaly characterized by an uneven cortical surface with a so called 'cobblestone' appearace. There are no distinguishable cortical layers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007260","HPO_Synonym__c":"Cobblestone lissencephaly; Lissencephaly type II; Type 2 lissencephaly","HPO_Name__c":"Type II lissencephaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any anomaly in the process by which myelin sheaths are formed and maintained around neurons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012447","HPO_Name__c":"Abnormal myelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002365","HPO_Synonym__c":"Brainstem hypoplasia; Hypoplastic brain stem; Hypoplastic brainstem; Small brainstem; Underdeveloped brainstem","HPO_Name__c":"Hypoplasia of the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352682","HPO_Frequency__c":"Occasional (5-29%)","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:352682","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Heterotopia or neuronal heterotopia are macroscopic clusters of misplaced neurons (gray matter), most often situated along the ventricular walls or within the subcortical white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002282","HPO_Synonym__c":"Gray matter heterotopias; Heterotopia; Heterotopias; Neuronal heterotopia","HPO_Name__c":"Gray matter heterotopia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["cobblestone lissencephaly without muscular or eye involvement"," leukoencephalopathy with variable cortical brain malformations and/or hydrocephalus"," lissencephaly 5"," lissencephaly type 2 without muscular or eye involvement"," lissencephaly type 2 without muscular or ocular involvement"," lissencephaly type 5"]}