{"Name":"Neuronal ceroid lipofuscinosis 8 northern epilepsy variant","DiseaseID__c":"GARD:0004010","id":4010,"encodedName":"neuronal-ceroid-lipofuscinosis-8-northern-epilepsy-variant","IsDeleted":false,"Disease_Name_Full__c":"Neuronal ceroid lipofuscinosis 8 northern epilepsy variant","Xref_IDs__c":"C1864923; DOID:0110724; MEDGEN:355328; MONDO:0012391; OMIM:610003; ORPHA:1947","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":8,"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":1,"Description_Source__c":"MONDO:0012391","Disease_Description__c":"Progressive epilepsy-intellectual deficit, Finnish type (also known as Northern epilepsy) is a subtype of neuronal ceroid lipofuscinosis (NCL; see this term) characterized by seizures, progressive decline of intellectual capacities and variable loss of vision.","GARD_Name__c":"Neuronal ceroid lipofuscinosis 8 northern epilepsy variant","GARD_Synonym__c":"cln8 disease, northern epilepsy variant; early onset familial encephalopathy with neuroserpin inclusion bodies; epmr; ncl, northern epilepsy variant; neuronal ceroid lipofuscinosis, northern epilepsy variant; northern epilepsy; northern epilepsy variant, neuronal ceroid lipofuscinosis, northern epilepsy variant; progressive epilepsy with intellectual disability, northern epilepsy; progressive epilepsy with mental retardation; progressive epilepsy-intellectual disability syndrome finnish type; progressive epilepsy-intellectual disability syndrome, finnish type; progressive myoclonic epilepsy with neuroserpin inclusion bodies","Curated_Disease_Description_Source__c":"GARD:0004010","Curated_Disease_Description__c":"Progressive epilepsy-intellectual disability syndrome, Finnish type is a rare condition that affects the nervous system. Some affected people may also experience decreased visual acuity. Progressive epilepsy-intellectual disability syndrome, Finnish type is caused by changes in the CLN8 gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Child","SourceID__c":"ORPHA:1947","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012391","ORPHANET_ID__c":"ORPHA:1947; ORPHA:530298","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Epilepsia del norte","Spanish_Description_Source__c":"ORPHA:1947","Spanish_Description__c":"La epilepsia progresiva-déficit intelectual, tipo finlandés (también conocida como epilepsia nórdica) es un subtipo de la lipofuscinosis neuronal ceroide (LNC; ver este término), caracterizada por convulsiones, deterioro progresivo de la capacidad intelectual y pérdida de la visión en grado variable.","Spanish_Disease_Name__c":"epilepsia del norte","Spanish_GARD_Synonym__c":"ceroidolipofuscinosis neuronal, variante epiléptica del norte; enfermedad cln8, variante epiléptica del norte; ncl, variante epiléptica del norte; síndrome de epilepsia progresiva-discapacidad intelectual tipo finlandés","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":"Progressive epilepsy-intellectual disability syndrome, Finnish type is a rare condition that affects the nervous system. Some affected people may also experience decreased visual acuity. Progressive epilepsy-intellectual disability syndrome, Finnish type is caused by changes in the CLN8 gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0004010","GARD_Synonym__c":"cln8 disease, northern epilepsy variant; early onset familial encephalopathy with neuroserpin inclusion bodies; epmr; ncl, northern epilepsy variant; neuronal ceroid lipofuscinosis, northern epilepsy variant; northern epilepsy; northern epilepsy variant, neuronal ceroid lipofuscinosis, northern epilepsy variant; progressive epilepsy with intellectual disability, northern epilepsy; progressive epilepsy with mental retardation; progressive epilepsy-intellectual disability syndrome finnish type; progressive epilepsy-intellectual disability syndrome, finnish type; progressive myoclonic epilepsy with neuroserpin inclusion bodies","Name":"Neuronal ceroid lipofuscinosis 8 northern epilepsy variant","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Children's Brain Disease Foundation","Website__c":"https://childrensbraindiseasesfoundation.org/"},{"Account_Name__c":"BDSRA Foundation","Website__c":"https://bdsrafoundation.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":"Ophthalmology","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Psychiatry","Tag_Category__c":"Specialist"},{"Tag_Name__c":"Inborn Errors of Metabolism","Tag_Category__c":"Cause;Disease Category","category_description":"Inherited metabolic diseases, or inborn errors of metabolism, are a group of genetic diseases that affect the ability of the body's cells to convert food into energy.","curated_tag_name":"Inherited metabolic 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":"Lysosomal","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Lysosomal storage diseases are a group of genetic metabolic diseases that affect the ability of the body's cells to break down substances and remove toxins.","curated_tag_name":"Lysosomal storage diseases"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"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":"Childhood","Provided_By__c":"ORPHA:1947"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0004010","Source__c":"RareSource"},{"URL__c":"https://www.orpha.net/en/disease/detail/1947","Source__c":"C1864923; MONDO:0012391; ORPHA:1947","Xref__c":"ORPHA:1947"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110724","Source__c":"MONDO:0012391","Xref__c":"DOID:0110724"},{"URL__c":"https://www.omim.org/entry/610003","Source__c":"C1864923; MONDO:0012391; ORPHA:1947","Xref__c":"OMIM:610003"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=355328","Source__c":"C1864923","Xref__c":"MEDGEN:355328"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1864923","Source__c":"C1864923","Xref__c":"C1864923"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012391","Source__c":"GARD:0004010","Xref__c":"MONDO:0012391"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=703526007","Source__c":"C1864923","Xref__c":"703526007"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"CLN8","GHR_URL__c":"https://medlineplus.gov/genetics/gene/cln8","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG discharges recorded on the entire scalp typically seen in persons with epilepsy.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011198","HPO_Name__c":"EEG with generalized epileptiform discharges","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously present motor (i.e., movement) abilities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002333","HPO_Synonym__c":"Progressive degeneration of movement","HPO_Name__c":"Motor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term intellectual disability or intellectual developmental disorder is used to describe significantly sub-average intellectual and adaptive functioning based on clinical assessment and as measured by individually administered, appropriately normed, standardized and validated tests of intellectual functioning and adaptive behavior, with onset during the developmental period from infancy through adolescence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001249","HPO_Synonym__c":"Intellectual disability; Mental deficiency; Mental retardation; Mental retardation, nonspecific; Mental-retardation; Nonprogressive intellectual disability; Nonprogressive mental retardation","HPO_Name__c":"Intellectual disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrostomy tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011471","HPO_Name__c":"Gastrostomy tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Loss of previously achieved motor skills, as manifested by loss of developmental motor milestones.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0033044","HPO_Synonym__c":"Regression of motor skills","HPO_Name__c":"Motor regression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000505","HPO_Synonym__c":"Impaired vision; Loss of eyesight; Poor vision; Visual impairment","HPO_Name__c":"Visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A brighter than expected signal on magnetic resonance imaging emanating from the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030890","HPO_Synonym__c":"White matter hyperintensity","HPO_Name__c":"Hyperintensity of cerebral white matter on MRI","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with abnormally slow frequencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011203","HPO_Name__c":"EEG with abnormally slow frequencies","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of physical coordination resulting in an abnormal tendency to drop items or bump into objects.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002312","HPO_Synonym__c":"Clumsiness","HPO_Name__c":"Clumsiness","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A reduction of previously attained ability to see.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000529","HPO_Synonym__c":"Loss of visual acuity; Progressive loss of vision; Progressive vision loss; Progressive visual acuity loss; Progressive visual impairment; Slowly progressive visual loss; Vision loss, progressive; Visual loss, progressive","HPO_Name__c":"Progressive visual loss","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001263","HPO_Synonym__c":"Delayed cognitive development; Delayed development; Delayed developmental milestones; Delayed intellectual development; Delayed milestones; Delayed psychomotor development; Developmental delay; Developmental delay in early childhood; Developmental delay, global; Developmental retardation; GDD; Lack of psychomotor development; Motor and developmental delay; Motormental retardation; Psychomotor delay; Psychomotor development deficiency; Psychomotor development failure; Psychomotor developmental delay; Retarded development; Retarded mental development; Retarded psychomotor development","HPO_Name__c":"Global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Incapability to ambulate.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002540","HPO_Synonym__c":"Inability to walk; Non-ambulatory","HPO_Name__c":"Inability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar atrophy is defined as a cerebellum with initially normal structures, in a posterior fossa with normal size, which displays enlarged fissures (interfolial spaces) in comparison to the foliae secondary to loss of tissue. Cerebellar atrophy implies irreversible loss of tissue and result from an ongoing progressive disease until a final stage is reached or a single injury, e.g. an intoxication or infectious event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001272","HPO_Synonym__c":"Atrophic cerebellum; Degeneration of cerebellum","HPO_Name__c":"Cerebellar atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","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:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ataxia refers to impaired coordination of voluntary muscle movement. Cerebellar ataxia refers to ataxia due to dysfunction of the cerebellum. This causes a variety of elementary neurological deficits including asynergy (lack of coordination between muscles, limbs and joints), dysmetria (lack of ability to judge distances that can lead to under- or overshoot in grasping movements), and dysdiadochokinesia (inability to perform rapid movements requiring antagonizing muscle groups to be switched on and off repeatedly).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001251","HPO_Synonym__c":"Cerebellar ataxia","HPO_Name__c":"Ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A darker than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a diffuse hypointensity affecting the entire thalamus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012690","HPO_Name__c":"T2 hypointense thalamus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003698","HPO_Synonym__c":"Difficulty in standing; Standing instability","HPO_Name__c":"Difficulty standing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The intracellular accumulation of autofluorescent storage material.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003204","HPO_Name__c":"Intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality in the sound (volume) or cadence (rate) of speech.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002167","HPO_Synonym__c":"Abnormal speech; Abnormal vocalization; Abnormality of speech or vocalization","HPO_Name__c":"Abnormal speech pattern","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002317","HPO_Synonym__c":"Gait instability; Unsteady walk","HPO_Name__c":"Unsteady gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intracellular accumulation of autofluorescent lipopigment storage material in a curved pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003205","HPO_Synonym__c":"Curvilinear profiles ultrastructurally; Curvilinear profiles ultrastructurally in cells; Intracellular curvilinear profiles on ultrastructural analysis","HPO_Name__c":"Curvilinear intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to coordinate the movements required for normal walking. Gait ataxia is characteirzed by a wide-based staggering gait with a tendency to fall.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002066","HPO_Synonym__c":"Ataxia of gait; Ataxic gait; Inability to coordinate movements when walking","HPO_Name__c":"Gait ataxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","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:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002371","HPO_Synonym__c":"Loss of speech","HPO_Name__c":"Loss of speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002359","HPO_Synonym__c":"Frequent falls","HPO_Name__c":"Frequent falls","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Lack of any response to stimulation upon electroretinography.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000550","HPO_Synonym__c":"Abolished electroretinogram; Absent electroretinogram; Extinction of electroretinogram; Extinguished electroretinogram; No light-evoked response on electroretinogram; Undetectable ERG","HPO_Name__c":"Undetectable electroretinogram","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A degree of language development that is significantly below the norm for a child of a specified age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000750","HPO_Synonym__c":"Deficiency of speech development; Delayed language development; Delayed speech; Delayed speech acquisition; Delayed speech and language development; Delayed speech development; Impaired speech and language development; Impaired speech development; Language delay; Language delayed; Language development deficit; Late-onset speech development; Poor language development; Speech and language delay; Speech and language difficulties; Speech delay","HPO_Name__c":"Delayed speech and language development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An intracellular accumulation of autofluorescent lipopigment storage material in a trabecular or fingerprint-like pattern.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003208","HPO_Synonym__c":"Fingerprint profiles ultrastructurally; Fingerprint profiles ultrastructurally in cells","HPO_Name__c":"Fingerprint intracellular accumulation of autofluorescent lipopigment storage material","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1947","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:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Spastic paralysis affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002510","HPO_Synonym__c":"Spastic quadriplegia","HPO_Name__c":"Spastic tetraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Atrophy (wasting, decrease in size of cells or tissue) affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002059","HPO_Synonym__c":"Degeneration of cerebrum","HPO_Name__c":"Cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A pale yellow discoloration of the optic disc (the area of the optic nerve head in the retina). The optic disc normally has a pinkish hue with a central yellowish depression.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000543","HPO_Synonym__c":"Pale optic disc","HPO_Name__c":"Optic disc pallor","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030455","HPO_Name__c":"Abnormality of pattern visual evoked potentials","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Persistent deficits in social interaction and communication and interaction as well as a markedly restricted repertoire of activity and interest as well as repetitive patterns of behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000729","HPO_Synonym__c":"ASD; Pervasive developmental disorder","HPO_Name__c":"Autistic behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1947","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Accumulation of granular osmiophilic material in blood vessel walls. Osmiophilic material becomes black upon staining with osmium tetroxide. Deposition of granular osmiophilic material (GOM) is the vascular pathological hallmark of CADASIL, which is the most prevalent hereditary small vessel disease and is caused by missense mutations in the NOTCH3 gene. GOM have been shown to contain NOTCH3 ectodomain (NOTCH3ECD) and extracellular matrix proteins, and can be visualized ultrastructurally in the tunica media of small arteries and capillaries. These electron dense GOM deposits are located in the basement membrane of mural cells, i.e. vascular smooth muscle cells and pericytes. In both manifest and pre-manifest CADASIL patients, GOM deposits are present not only in brain vessels, but also in vessels of other organs, such as the skin.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003657","HPO_Synonym__c":"Granular osmiophilic deposits (GROD) in cells","HPO_Name__c":"Vascular granular osmiophilic material deposition","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Lysosomal"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism","Congenital Abnormality","Lysosomal"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Retinal","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Lysosomal","Retinal","Epilepsy"]},"synonyms":["cln8 disease, northern epilepsy variant"," early onset familial encephalopathy with neuroserpin inclusion bodies"," epmr"," ncl, northern epilepsy variant"," neuronal ceroid lipofuscinosis, northern epilepsy variant"," northern epilepsy"," northern epilepsy variant, neuronal ceroid lipofuscinosis, northern epilepsy variant"," progressive epilepsy with intellectual disability, northern epilepsy"," progressive epilepsy with mental retardation"," progressive epilepsy-intellectual disability syndrome finnish type"," progressive epilepsy-intellectual disability syndrome, finnish type"," progressive myoclonic epilepsy with neuroserpin inclusion bodies"]}