{"Name":"Hypomyelinating leukodystrophy 2","DiseaseID__c":"GARD:0017293","id":17293,"encodedName":"hypomyelinating-leukodystrophy-2","IsDeleted":false,"Disease_Name_Full__c":"Hypomyelinating leukodystrophy 2","Xref_IDs__c":"C1837355; C563855; DOID:0060787; MEDGEN:325157; MONDO:0012125; OMIM:608804; ORPHA:280282","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":2,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0012125","Disease_Description__c":"Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene.","GARD_Name__c":"Hypomyelinating leukodystrophy 2","GARD_Synonym__c":"gjc2 leukodystrophy; hld2; hypomyelinating leukodystrophy type 2; leukodystrophy caused by mutation in gjc2; leukodystrophy, hypomyelinating, type 2; pelizaeus merzbacher like disease due to gjc2 mutation; pelizaeus-merzbacher-like disease 1; pelizaeus-merzbacher-like disease due to gjc2 mutation; pelizaeus-merzbacher-like disease, 1; pmld1","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","Curated_Disease_Description__c":"Pelizaeus-Merzbacher-like disease due to GJC2 mutation (PLMD1) is a rare genetic neurological disorder. This disease is characterized by a range of symptoms that typically appear at birth or in early childhood. Symptoms include uncontrolled eye movement (nystagmus) and decreased muscle tone (hypotonia). People with this condition also have developmental delays in crawling, standing, or walking. Speech delays and difficulties due to weak muscles (dysarthria) may also occur. Over time, the muscles become stiff and difficult to control (spasticity). This can affect mobility and communication. In some cases, people with PLMD1 may also experience other neurological issues. These include uncoordinated, involuntary, unpredictable, or repetitive movements. The issues related to muscles may eventually lead to difficulties with swallowing. They may also lead to problems with the skeletal system like dislocated hips or a curved spine (scoliosis). In rare cases, people may also develop problems with their hearing and sight. PLMD1 is caused by mutations in the GJC2 gene. This condition is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:280282","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0012125","ORPHANET_ID__c":"ORPHA:280282","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad similar a pelizaeus-merzbacher por una mutación en el gen gjc2","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"enfermedad similar a pelizaeus-merzbacher por una mutación en el gen gjc2","Spanish_GARD_Synonym__c":"enfermedad de pelizaeus-merzbacher-like por una mutación en el gen gjc2; pmld1","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":"Pelizaeus-Merzbacher-like disease due to GJC2 mutation (PLMD1) is a rare genetic neurological disorder. This disease is characterized by a range of symptoms that typically appear at birth or in early childhood. Symptoms include uncontrolled eye movement (nystagmus) and decreased muscle tone (hypotonia). People with this condition also have developmental delays in crawling, standing, or walking. Speech delays and difficulties due to weak muscles (dysarthria) may also occur. Over time, the muscles become stiff and difficult to control (spasticity). This can affect mobility and communication. In some cases, people with PLMD1 may also experience other neurological issues. These include uncoordinated, involuntary, unpredictable, or repetitive movements. The issues related to muscles may eventually lead to difficulties with swallowing. They may also lead to problems with the skeletal system like dislocated hips or a curved spine (scoliosis). In rare cases, people may also develop problems with their hearing and sight. PLMD1 is caused by mutations in the GJC2 gene. This condition is inherited in an autosomal recessive pattern. This means two copies of the mutated gene are required to cause the disease.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV2-Jan24","GARD_Synonym__c":"gjc2 leukodystrophy; hld2; hypomyelinating leukodystrophy type 2; leukodystrophy caused by mutation in gjc2; leukodystrophy, hypomyelinating, type 2; pelizaeus merzbacher like disease due to gjc2 mutation; pelizaeus-merzbacher-like disease 1; pelizaeus-merzbacher-like disease due to gjc2 mutation; pelizaeus-merzbacher-like disease, 1; pmld1","Name":"Hypomyelinating leukodystrophy 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Pelizaeus-Merzbacher Disease Foundation","Website__c":"https://www.pmdfoundation.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":"Leukodystrophy","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Leukodystrophies are a group of genetic neurological diseases that affect the white matter of the brain and spinal cord.","curated_tag_name":"Leukodystrophies"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:280282"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:280282"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK470716","Source__c":"Gene Review","Xref__c":"NBK470716"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C563855","Source__c":"MONDO:0012125","Xref__c":"C563855"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=325157","Source__c":"C1837355","Xref__c":"MEDGEN:325157"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0060787","Source__c":"MONDO:0012125","Xref__c":"DOID:0060787"},{"URL__c":"https://www.omim.org/entry/608804","Source__c":"C1837355; MONDO:0012125; ORPHA:280282","Xref__c":"OMIM:608804"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1837355","Source__c":"C1837355","Xref__c":"C1837355"},{"URL__c":"https://www.orpha.net/en/disease/detail/280282","Source__c":"C1837355; MONDO:0012125; ORPHA:280282","Xref__c":"ORPHA:280282"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=870287007","Source__c":"C1837355","Xref__c":"870287007"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0012125","Source__c":"GARD:0017293","Xref__c":"MONDO:0012125"},{"URL__c":"https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1"},{"URL__c":"https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1","Source__c":"GARD:0017293","Xref__c":"https://medlineplus.gov/genetics/condition/pelizaeus-merzbacher-like-disease-type-1"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"GJC2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/gjc2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"OMIM:608804","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":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","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":"OMIM:608804","Feature__r":{"HPO_Description__c":"A form of nystagmus in which the eyeball makes rotary motions around the axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001583","HPO_Synonym__c":"Rotatory Nystagmus","HPO_Name__c":"Rotary nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","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":"OMIM:608804","Feature__r":{"HPO_Description__c":"A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002080","HPO_Name__c":"Intention tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Frequent (30-79%)","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":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","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":"OMIM:608804","Feature__r":{"HPO_Description__c":"An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001332","HPO_Synonym__c":"Dystonic movements","HPO_Name__c":"Dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"An axonal neuropathy of peripheral sensory nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003390","HPO_Synonym__c":"Axonal sensory neuropathy","HPO_Name__c":"Sensory axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002465","HPO_Synonym__c":"Poor speech","HPO_Name__c":"Poor speech","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"Continuous involuntary sustained muscle contraction. When an affected muscle is passively stretched, the degree of resistance remains constant regardless of the rate at which the muscle is stretched. This feature helps to distinguish rigidity from muscle spasticity.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002063","HPO_Synonym__c":"Muscle rigidity; Rigidity","HPO_Name__c":"Rigidity","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Rhythmic, involuntary oscillations of one or both eyes related to abnormality in fixation, conjugate gaze, or vestibular mechanisms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000639","HPO_Synonym__c":"Involuntary, rapid, rhythmic eye movements","HPO_Name__c":"Nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"A head tremor of moderate speed (3 to 4 Hz) in the anterior-posterior direction.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002599","HPO_Name__c":"Head titubation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"A type of decreased nerve conduction velocity that affects the motor neuron.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003431","HPO_Synonym__c":"Decreased motor NCV; Decreased motor nerve conduction velocities; Reduced motor nerve conduction velocity","HPO_Name__c":"Decreased motor nerve conduction velocity","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_NCV"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"Reduced amount of myelin in the nervous system resulting from defective myelinogenesis in the white matter of the central nervous system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006808","HPO_Synonym__c":"Hypomyelination of the brain","HPO_Name__c":"Cerebral hypomyelination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","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":"OMIM:608804","Feature__r":{"HPO_Description__c":"Leukodystrophy refers to deterioration of white matter of the brain resulting from degeneration of myelin sheaths in the CNS. Their basic defect is directly related to the synthesis and maintenance of myelin membranes. Symmetric white matter involvement at MRI is a typical finding in patients with leukodystrophies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002415","HPO_Synonym__c":"Degeneration of white matter of brain","HPO_Name__c":"Leukodystrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Facial nerve palsy is a dysfunction of cranial nerve VII (the facial nerve) that results in inability to control facial muscles on the affected side with weakness of the muscles of facial expression and eye closure. This can either be present in unilateral or bilateral form.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010628","HPO_Synonym__c":"Bell's palsy; Cranial nerve VII palsy; Facial nerve palsy; Facial nerve paralysis; Facial palsy, unilateral or bilateral; Seventh cranial nerve palsy; VII th cranial nerve palsy","HPO_Name__c":"Facial palsy","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Partial loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002313","HPO_Name__c":"Spastic paraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"Spasticity that increases in degree with time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002191","HPO_Synonym__c":"Spasticity, progressive","HPO_Name__c":"Progressive spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Very frequent (80-99%)","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":"OMIM:608804","Feature__r":{"HPO_Description__c":"Demyelination of peripheral motor nerves.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007220","HPO_Name__c":"Demyelinating motor neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","Feature__r":{"HPO_Description__c":"An abnormality of refraction characterized by the ability to see objects nearby clearly, while objects in the distance appear blurry.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000545","HPO_Synonym__c":"Close sighted; Near sighted; Near sightedness; Nearsightedness","HPO_Name__c":"Myopia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of focal-onset seizure in which awareness is preserved. Awareness during a seizure is defined as the patient being fully aware of themself and their environment throughout the seizure, even if immobile.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002349","HPO_Synonym__c":"Focal aware seizures; Focal seizure with retained awareness; Focal seizure without impairment of awareness; Focal seizure without impairment of consciousness or awareness; Focal seizures without impairment of consciousness or awareness; Partial seizure with retained awareness; Partial seizure without impairment of awareness; Simple partial seizure; Simple partial seizures","HPO_Name__c":"Focal aware seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"OMIM:608804","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"}}],"tags":{"Cause":["Genetics","Leukodystrophy"],"Disease Category":["Genetics","Neurology","Leukodystrophy"],"Specialist":["Genetics","Neurology","Pediatrics"],"Account":["Leukodystrophy"]},"synonyms":["gjc2 leukodystrophy"," hld2"," hypomyelinating leukodystrophy type 2"," leukodystrophy caused by mutation in gjc2"," leukodystrophy, hypomyelinating, type 2"," pelizaeus merzbacher like disease due to gjc2 mutation"," pelizaeus-merzbacher-like disease 1"," pelizaeus-merzbacher-like disease due to gjc2 mutation"," pelizaeus-merzbacher-like disease, 1"," pmld1"]}