{"Name":"Brain dopamine-serotonin vesicular transport disease","DiseaseID__c":"GARD:0013594","id":13594,"encodedName":"brain-dopamine-serotonin-vesicular-transport-disease","IsDeleted":false,"Disease_Name_Full__c":"Brain dopamine-serotonin vesicular transport disease","Xref_IDs__c":"717942003; C4303546; DOID:0070490; MEDGEN:929215; MONDO:0018130; OMIM:618049; ORPHA:352649","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":4,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0018130","Disease_Description__c":"A rare infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.","GARD_Name__c":"Brain dopamine-serotonin vesicular transport disease","GARD_Synonym__c":"brain monoamine vesicular transport disease; parkinsonism-dystonia 2, infantile-onset; parkinsonism-dystonia, infantile, 2; pkdys2","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","Curated_Disease_Description__c":"Brain dopamine-serotonin vesicular transport disease is a rare genetic condition which presents during infancy. It causes involuntary muscle contractions (dystonia), muscle stiffness and tremors (parkinsonism), and difficulty walking. It can also affect the autonomic nervous system, which controls involuntary boly functions like blood pressure and body temperature. Children with this disease may have developmental delays and experience mood changes.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:352649","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0018130","ORPHANET_ID__c":"ORPHA:352649","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Enfermedad del transporte vesicular cerebral de dopamina-serotonina","Spanish_Description_Source__c":"ORPHA:352649","Spanish_Description__c":"Es una enfermedad neurometabólica de inicio en la lactancia, caracterizada por distonía, parkinsonismo, incapacidad para caminar, disfunción autonómica, retraso en el desarrollo y trastornos anímicos.","Spanish_Disease_Name__c":"enfermedad del transporte vesicular cerebral de dopamina-serotonina","Spanish_GARD_Synonym__c":null,"Category_Linearization__c":"ORPHA:68367","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":"Brain dopamine-serotonin vesicular transport disease is a rare genetic condition which presents during infancy. It causes involuntary muscle contractions (dystonia), muscle stiffness and tremors (parkinsonism), and difficulty walking. It can also affect the autonomic nervous system, which controls involuntary boly functions like blood pressure and body temperature. Children with this disease may have developmental delays and experience mood changes.","Curated_Disease_Description_Source__c":"PlainLanguagePilotV1-Sep23","GARD_Synonym__c":"brain monoamine vesicular transport disease; parkinsonism-dystonia 2, infantile-onset; parkinsonism-dystonia, infantile, 2; pkdys2","Name":"Brain dopamine-serotonin vesicular transport disease","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Dystonia Society","Website__c":"https://www.dystonia.org.uk/"},{"Account_Name__c":"Dystonia Medical Research Foundation","Website__c":"https://dystonia-foundation.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":"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":"Dystonia","Tag_Category__c":"Account","curated_tag_name":"Dystonia"},{"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:352649"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:352649"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0013594","Source__c":"RareSource"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4303546","Source__c":"C4303546","Xref__c":"C4303546"},{"URL__c":"https://www.orpha.net/en/disease/detail/352649","Source__c":"C4303546; MONDO:0018130; ORPHA:352649","Xref__c":"ORPHA:352649"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0070490","Source__c":"MONDO:0018130","Xref__c":"DOID:0070490"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=929215","Source__c":"C4303546","Xref__c":"MEDGEN:929215"},{"URL__c":"https://www.omim.org/entry/618049","Source__c":"C4303546; MONDO:0018130; ORPHA:352649","Xref__c":"OMIM:618049"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=717942003","Source__c":"C4303546; MONDO:0018130","Xref__c":"717942003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018130","Source__c":"GARD:0013594","Xref__c":"MONDO:0018130"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"SLC18A2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Characteristic neurologic anomaly resulting from degeneration of dopamine-generating cells in the substantia nigra, a region of the midbrain, characterized clinically by shaking, rigidity, slowness of movement and difficulty with walking and gait.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001300","HPO_Name__c":"Parkinsonism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of speech characterized by the presence of an abnormally increased nasal airflow during speech associated with structural abnormality of the nasal passages.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001611","HPO_Synonym__c":"Hypernasal voice; Nasal speech; Nasal voice","HPO_Name__c":"Hypernasal speech","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011443","HPO_Synonym__c":"Abnormality of coordination; Coordination issue","HPO_Name__c":"Abnormality of coordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","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:352649","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":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010307","HPO_Name__c":"Stridor","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the impairment of the ability to perform rapidly alternating movements, such as pronating and supinating his or her hand on the dorsum of the other hand as rapidly as possible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002075","HPO_Synonym__c":"Difficulty performing quick and alternating movements; Dysdiadochokinesia","HPO_Name__c":"Dysdiadochokinesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","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:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002310","HPO_Synonym__c":"Orofacial dyskinesias","HPO_Name__c":"Orofacial dyskinesia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduced degree of motion of the muscles beneath the skin of the face, often associated with reduced facial crease formation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000338","HPO_Synonym__c":"Dull facial expression; Hypomimia","HPO_Name__c":"Hypomimic face","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Uncontrolled episodes of crying occur without any apparent motivating stimuli.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030215","HPO_Synonym__c":"Cry frequently for no reason; Cry frequently without apparent cause; Cry frequently without cause; Cry frequently without reason; Frequently cries for no reason; Frequently cries without apparent cause; Frequently cries without cause; Frequently cries without reason; Inappropriate crying","HPO_Name__c":"Inappropriate crying","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An acute dystonic reaction with blepharospasm, periorbital twitches, and protracted fixed staring episodes. There may be a maximal upward deviation of the eyes in the sustained fashion. Oculogyric crisis can be triggered by a number of factors including neuroleptic medications.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010553","HPO_Name__c":"Oculogyric crisis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the skeleton of foot.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001760","HPO_Synonym__c":"Abnormal feet structure; Abnormality of the feet; Abnormality of the foot; Foot deformities; Foot deformity","HPO_Name__c":"Abnormal foot morphology","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Generalized muscular hypotonia (abnormally low muscle tone).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001290","HPO_Synonym__c":"Generalized decreased muscle tone; Generalized muscular hypotonia; Hypotonia, generalized","HPO_Name__c":"Generalized hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The term gait disturbance can refer to any disruption of the ability to walk.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001288","HPO_Synonym__c":"Abnormal gait; Abnormal walk; Difficulty in walking; Gait abnormalities; Gait difficulties; Gait disturbances; Impaired gait; Walking disability","HPO_Name__c":"Gait disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","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":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","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":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A subjective feeling of tiredness characterized by a lack of energy and motivation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012378","HPO_Synonym__c":"Fatigue; Tired; Tiredness","HPO_Name__c":"Fatigue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"The upper eyelid margin is positioned 3 mm or more lower than usual and covers the superior portion of the iris (objective); or, the upper lid margin obscures at least part of the pupil (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000508","HPO_Synonym__c":"Blepharoptosis; Drooping upper eyelid; Eyelid ptosis; Palpebral ptosis","HPO_Name__c":"Ptosis","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement about a joint axis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001337","HPO_Synonym__c":"Tremor; Tremors","HPO_Name__c":"Tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A condition in which there is increased muscle tone so that arms or legs, for example, are stiff and difficult to move.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001276","HPO_Synonym__c":"Hypertonicity; Increased muscle tone","HPO_Name__c":"Hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormal pattern in the quality, quantity, or characteristics of sleep.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002360","HPO_Synonym__c":"Difficulty sleeping; Sleep abnormality; Sleep disturbances; Sleep dysfunction; Sleep-wake disturbance; Trouble sleeping","HPO_Name__c":"Sleep disturbance","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of dystonia (abnormally increased muscular tone causing fixed abnormal postures) that affects muscles of the limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002451","HPO_Name__c":"Limb dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Spastic weakness affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001285","HPO_Synonym__c":"Spastic quadriparesis","HPO_Name__c":"Spastic tetraparesis","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Abnormal excessive perspiration (sweating) despite the lack of appropriate stimuli like hot and humid weather.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000975","HPO_Synonym__c":"Diaphoresis; Excessive sweating; Increased sweating; Profuse sweating; Sweating; Sweating profusely; Sweating, increased","HPO_Name__c":"Hyperhidrosis","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","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":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An abnormality of the vasculature.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002597","HPO_Synonym__c":"Abnormality of blood vessels; Abnormality of the vasculature; Vascular abnormalities","HPO_Name__c":"Abnormality of the vasculature","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Head circumference which falls below 2 standard deviations below the mean for age and sex because of insufficient head growth after birth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005484","HPO_Synonym__c":"Acquired microcephaly; Deceleration of head growth; Microcephaly, acquired; Microcephaly, postnatal; Postnatal deceleration of head circumference; Postnatal microcephaly","HPO_Name__c":"Secondary microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:352649","HPO_Frequency__c":"Very frequent (80-99%)","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:352649","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of gait (walking) characterized by by dragging one's feet along or without lifting the feet fully from the ground.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002362","HPO_Synonym__c":"Shuffled walk","HPO_Name__c":"Shuffling gait","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism"],"Disease Category":["Genetics","Neurology","Inborn Errors of Metabolism"],"Specialist":["Genetics","Neurology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Dystonia"]},"synonyms":["brain monoamine vesicular transport disease"," parkinsonism-dystonia 2, infantile-onset"," parkinsonism-dystonia, infantile, 2"," pkdys2"]}