{"Name":"Lissencephaly due to LIS1 mutation","DiseaseID__c":"GARD:0016838","id":16838,"encodedName":"lissencephaly-due-to-lis1-mutation","IsDeleted":false,"Disease_Name_Full__c":"Lissencephaly due to LIS1 mutation","Xref_IDs__c":"770560008; C4749301; DOID:0112237; MEDGEN:1657090; MONDO:0011830; ORPHA:95232","USA_Estimate__c":null,"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":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":2,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0011830","Disease_Description__c":"Lissencephaly due to LIS1 mutation is a cerebral malformation with epilepsy characterized predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.","GARD_Name__c":"Lissencephaly due to LIS1 mutation","GARD_Synonym__c":"isolated lissencephaly sequence; lis1; pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly; pafah1b1-related lissencephaly","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Lissencephaly due to LIS1 mutation is a brain disorder that affects the way the brain develops. It is characterized by posterior isolated lissencephaly. This means the brain has a smooth surface due to incomplete neuronal migration. This is associated with developmental delay and intellectual disability. Symptoms also include epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional symptoms include low muscle tone (hypotonia) and acquired microcephaly (small head). People with this condition may also experience failure to thrive. This means the child doesn't grow or develop as expected. This condition may also cause poor control of the airways, leading to aspiration pneumonia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:95232","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0011830","ORPHANET_ID__c":"ORPHA:95232","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Lisencefalia por una mutación en el gen lis1","Spanish_Description_Source__c":"ORPHA:95232","Spanish_Description__c":"Es una malformación cerebral con epilepsia caracterizada predominantemente por lisencefalia aislada posterior con retraso del desarrollo, discapacidad intelectual y epilepsia que por lo general evoluciona del síndrome de West al síndrome de Lennox-Gastaut. Otras características adicionales incluyen hipotonía muscular, microcefalia adquirida, retraso del desarrollo y mal control de las vía aerea que conduce a neumonía por aspiración.","Spanish_Disease_Name__c":"lisencefalia por una mutación en el gen lis1","Spanish_GARD_Synonym__c":"lisencefalia asociada a pafah1b1","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":"Lissencephaly due to LIS1 mutation is a brain disorder that affects the way the brain develops. It is characterized by posterior isolated lissencephaly. This means the brain has a smooth surface due to incomplete neuronal migration. This is associated with developmental delay and intellectual disability. Symptoms also include epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional symptoms include low muscle tone (hypotonia) and acquired microcephaly (small head). People with this condition may also experience failure to thrive. This means the child doesn't grow or develop as expected. This condition may also cause poor control of the airways, leading to aspiration pneumonia.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"isolated lissencephaly sequence; lis1; pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly; pafah1b1-related lissencephaly","Name":"Lissencephaly due to LIS1 mutation","estimateUsa":""}],"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":"Antenatal","Provided_By__c":"ORPHA:95232"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:95232"},{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:95232"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK5189","Source__c":"Gene Review","Xref__c":"NBK5189"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112237","Source__c":"MONDO:0011830","Xref__c":"DOID:0112237"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1657090","Source__c":"C4749301","Xref__c":"MEDGEN:1657090"},{"URL__c":"https://www.orpha.net/en/disease/detail/95232","Source__c":"C4749301; MONDO:0011830; ORPHA:95232","Xref__c":"ORPHA:95232"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4749301","Source__c":"C4749301","Xref__c":"C4749301"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=770560008","Source__c":"C4749301","Xref__c":"770560008"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0011830","Source__c":"GARD:0016838","Xref__c":"MONDO:0011830"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PAFAH1B1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/pafah1b1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal dominant"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complexes of spikes (<70 ms) and sharp waves (70-200 ms), which are sharp transient waves that have a strong association with epilepsy, in cerebral electrical activity recorded along the scalp by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010850","HPO_Name__c":"EEG with spike-wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Neurodevelopmental delay (NDD) refers to delays in the maturation of the brain and central nervous system; infants and young children with NDD may experience delays in the development of one or more skills including gross motor abilities, fine-motor coordination, language abilities and ability to solve increasingly complex problems.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012758","HPO_Synonym__c":"NDD","HPO_Name__c":"Neurodevelopmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with abnormal amplitude.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011201","HPO_Name__c":"EEG with changes in voltage","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002478","HPO_Synonym__c":"Progressive spastic quadriparesis","HPO_Name__c":"Progressive spastic quadriplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006891","HPO_Name__c":"Thick cerebral cortex","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","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:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pachygyria with cortical thickness above 10 mm with and a posterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Posterior predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020189","HPO_Synonym__c":"Occipital predomimant classic pachygyria; Pachygyria with cortical thickness over 10 mm posterior predominant","HPO_Name__c":"Posterior predominant thick cortex pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) affecting the musculature of the trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008936","HPO_Synonym__c":"Low muscle tone in trunk; Muscular hypotonia of the trunk; Truncal hypotonia","HPO_Name__c":"Axial hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atonic seizure is a type of motor seizure characterized by a sudden loss or diminution of muscle tone without apparent preceding myoclonic or tonic event lasting about 1 to 2 seconds, involving head, trunk, jaw, or limb musculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010819","HPO_Synonym__c":"Astatic seizure; Astatic seizures; Atonic seizures; Drop attacks; Drop seizures; Hypotonic seizure","HPO_Name__c":"Atonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012469","HPO_Name__c":"Infantile spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormality of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001273","HPO_Synonym__c":"Abnormal corpus callosum; Abnormality of the corpus callosum; Corpus callosum abnormality","HPO_Name__c":"Abnormal corpus callosum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to sit at an appropriate developmental stage. Most children sit with support at 6 months of age and sit steadily without support at 9 months of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025336","HPO_Name__c":"Delayed ability to sit","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pachygyria is a malformation of cortical development with abnormally wide gyri with sulci 1,5-3 cm apart and abnormally thick cortex measuring more than 5 mm (radiological definition). See also neuropathological definitions for 2-, 3-, and 4-layered lissencephaly.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001302","HPO_Synonym__c":"Cerebral pachygyria; Fewer and broader ridges in brain; Macrogyria","HPO_Name__c":"Pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular hypotonia (abnormally low muscle tone) manifesting in the neonatal period.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001319","HPO_Synonym__c":"Hypotonia, in neonatal onset; Hypotonia, neonatal; Low muscle tone, in neonatal onset","HPO_Name__c":"Neonatal hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hypsarrhythmia is abnormal interictal high amplitude waves and a background of irregular spikes. There is continuous (during wakefulness), high-amplitude (>200 Hz), generalized polymorphic slowing with no organized background and multifocal spikes demonstrated by electroencephalography (EEG).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002521","HPO_Synonym__c":"Hypsarrhythmia by EEG","HPO_Name__c":"Hypsarrhythmia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An impairment of the ability to track objects with the ocular smooth pursuit system, a class of rather slow eye movements that minimizes retinal target motion.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007772","HPO_Synonym__c":"Abnormality of visual tracking; Impairment of visual pursuit","HPO_Name__c":"Impaired smooth pursuit","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of hyperbilirubinemia with neonatal onset.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003265","HPO_Synonym__c":"High blood bilirubin levels in neonate; Hyperbilirubinemia, neonatal","HPO_Name__c":"Neonatal hyperbilirubinemia","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A generalized tonic seizure is a type of generalized motor seizure characterized by bilateral limb stiffening or elevation, often with neck stiffening without a subsequent clonic phase. The tonic activity can be a sustained abnormal posture, either in extension or flexion, sometimes accompanied by tremor of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010818","HPO_Synonym__c":"Generalised hypertonic seizure; Generalized hypertonic seizure; Generalized tonic seizures","HPO_Name__c":"Generalized tonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Opisthotonus is defined as a dramatic abnormal posture due to spastic contraction of the extensor muscles of the neck, trunk, and lower extremities that produces a severe backward arching from neck to heel. In most cases, the trunk is elevated off the ground by a few inches. It is usually sudden in onset and can be sustained or repetitive. It can be considered a variant of decerebrate posturing involving a hyperextension of the neck, back, and limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002179","HPO_Synonym__c":"Arc de cercle; Opisthotonos","HPO_Name__c":"Opisthotonus","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Difficulty to maintain correct position of the head while standing or sitting. Infant head lag is observed when the head seems to flop around or lags posteriorly behind the trunk. Several articles have maintained that head lag should be absent by age 3 to 4 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002421","HPO_Synonym__c":"Delay in head control; Delay in head righting; Infant head lag; Poor head control","HPO_Name__c":"Poor head control","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of excess amniotic fluid in the uterus during pregnancy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001561","HPO_Synonym__c":"High levels of amniotic fluid; Hydramnios","HPO_Name__c":"Polyhydramnios","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Loss of developmental skills, as manifested by loss of developmental milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002376","HPO_Synonym__c":"Loss of acquired milestones; Loss of developmental milestones; Loss of milestones; Mental deterioration in childhood; Neurodevelopmental regression; Psychomotor regression; Psychomotor regression beginning in infancy; Psychomotor regression in infants; Psychomotor regression, progressive","HPO_Name__c":"Developmental regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","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:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Paralysis of all four limbs, and trunk of the body below the level of an associated injury to the spinal cord. The etiology of quadriplegia is similar to that of paraplegia except that the lesion is in the cervical spinal cord rather than in the thoracic or lumbar segments of the spinal cord.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002445","HPO_Synonym__c":"Paralysis of all four limbs; Quadriplegia","HPO_Name__c":"Tetraplegia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Mild intellectual disability (ID) is defined as a type of ID characterized by mildly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) the range of 50-69.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001256","HPO_Synonym__c":"Intellectual disability, mild; Mental retardation, borderline-mild; Mild and nonprogressive mental retardation; Mild mental retardation","HPO_Name__c":"Mild intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and sex-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000253","HPO_Synonym__c":"Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull","HPO_Name__c":"Progressive microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A congenital abnormality of the cerebral hemisphere characterized by lack of gyrations (convolutions) of the cerebral cortex. Agyria is defined as cortical regions lacking gyration with sulci great than 3 cm apart and cerebral cortex thicker than 5 mm.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031882","HPO_Synonym__c":"Agyria diffuse","HPO_Name__c":"Agyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Profound intellectual disability (ID) is defined as a type of ID characterized by profoundly sub-average adaptive functioning and intellectual functioning, with an intelligence quotient (IQ) below 20.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002187","HPO_Synonym__c":"Intellectual disability, profound; IQ less than 20; Mental retardation, profound; Profound mental retardation","HPO_Name__c":"Profound intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased dimensions of the Virchow-Robin spaces (also known as perivascular spaces), which surround the walls of vessels as they course from the subarachnoid space through the brain parenchyma. Perivascular spaces are commonly microscopic, and not visible on conventional neuroimaging. This term refers to an increase of size of these spaces such that they are visible on neuroimaging (usually magnetic resonance imaging). The dilatations are regular cavities that always contain a patent artery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012520","HPO_Synonym__c":"Dilated Virchow-Robin spaces; Perivascular spaces","HPO_Name__c":"Dilation of Virchow-Robin spaces","Feature_System__c":"Nervous System; Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure characterized by a motor sign as its initial semiological manifestation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011153","HPO_Synonym__c":"Focal motor seizures; Localized motor seizure; Localized motor seizures; Partial motor seizure; Partial motor seizures; Segmental motor seizure","HPO_Name__c":"Focal motor seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","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:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Focal impaired awareness seizure (or focal seizure with impaired or lost awareness) is a type of focal-onset seizure characterized by some degree (which may be partial) of impairment of the person's awareness of themselves or their surroundings at any point during the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002384","HPO_Synonym__c":"Complex focal seizures; Complex partial seizure; Complex partial seizures; Dyscognitive seizures; Focal dyscognitive seizure; Focal impaired awareness seizures; Focal seizure with impairment of awareness; Focal seizure with loss of awareness; Focal seizures with impairment of consciousness or awareness; Localised dyscognitive seizure; Localised seizure with impaired awareness; Localised seizure with loss of awareness; Localized dyscognitive seizure; Localized seizure with impaired awareness; Localized seizure with loss of awareness; Partial dyscognitive seizure; Partial seizure with impairment of awareness; Partial seizure with loss of awareness","HPO_Name__c":"Focal impaired awareness seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Pneumonia due to the aspiration (breathing in) of food, liquid, or gastric contents into the upper respiratory tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011951","HPO_Name__c":"Aspiration pneumonia","Feature_System__c":"Respiratory system; Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pachygyria with cortical thickness greater than 10 mm and an anterior predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Anterior predominant gradient indicates pachygyria more severe over the frontal and temporal lobes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020191","HPO_Synonym__c":"Pachygyria with cortical thickness > 10 mm anterior predominant","HPO_Name__c":"Anterior predominant thick cortex pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"If the two laminae of the septum pellucidum are not fused then a fluid-filled space or cavum is present. The cavum septum pellucidum is present at birth but usually obliterates by the age of 3 to 6 months. It is up to 1cm in width and the walls are parallel. It is an enclosed space and is not part of the ventricular system or connected with the subarachnoid space.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002389","HPO_Synonym__c":"Large cavum septi pellucidi; Persistent cavum septum pellucidum; Widened cavum septum pellucidum","HPO_Name__c":"Cavum septum pellucidum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which epileptiform abnormalities are believed to contribute to the progressive disturbance in cerebral function. Epileptic encephalaopathy is characterized by (1) electrographic EEG paroxysmal activity that is often aggressive, (2) seizures that are usually multiform and intractable, (3) cognitive, behavioral and neurological deficits that may be relentless, and (4) sometimes early death.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200134","HPO_Synonym__c":"Convulsive encephalopathy","HPO_Name__c":"Epileptic encephalopathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:95232","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An atypical absence seizure is a type of generalized non-motor (absence) seizure characterized by interruption of ongoing activities and reduced responsiveness. In comparison to a typical absence seizure, changes in tone may be more pronounced, onset and/or cessation may be less abrupt, and the duration of the ictus and post-ictal recovery may be longer. Although not always available, an EEG often demonstrates slow (<3 Hz), irregular, generalized spike-wave activity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007270","HPO_Synonym__c":"Atypical absence; Atypical absence seizures; Atypical petit mal seizures","HPO_Name__c":"Atypical absence seizure","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":["isolated lissencephaly sequence"," lis1"," pafah1b1 (platelet activating factor acetylhydrolase 1b regulatory subunit 1) related lissencephaly"," pafah1b1-related lissencephaly"]}