{"Name":"Autosomal recessive spinocerebellar ataxia 2","DiseaseID__c":"GARD:0001199","id":1199,"encodedName":"autosomal-recessive-spinocerebellar-ataxia-2","IsDeleted":false,"Disease_Name_Full__c":"Autosomal recessive spinocerebellar ataxia 2","Xref_IDs__c":"715369006; C1859298; C565865; DOID:0080061; MEDGEN:349134; MONDO:0008943; OMIM:213200; ORPHA:1170","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":7,"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":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0008943","Disease_Description__c":"A rare autosomal recessive cerebellar ataxia characterized by early onset of non- or slowly progressive cerebellar signs and symptoms including truncal and gait ataxia, dysarthria, dysmetria, dysdiadochokinesis, tremor, and nystagmus. Delayed psychomotor development and intellectual disability are variable. Additional reported features are spasticity, hypotonia, cataracts, and sensorineural hearing loss, among others. Brain imaging shows cerebellar atrophy.","GARD_Name__c":"Autosomal recessive spinocerebellar ataxia 2","GARD_Synonym__c":"autosomal recessive cerebelloparenchymal disorder type 3; autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca; autosomal recessive spinocerebellar ataxia type 2; cerebellar hypoplasia, nonprogressive norman type; cerebelloparenchymal disorder iii; cpd iii; pmpca autosomal recessive congenital cerebellar ataxia; scar2; scar2 (spinocerebellar ataxia autosomal recessive 2)","Curated_Disease_Description_Source__c":"ORPHA:1170","Curated_Disease_Description__c":"Autosomal recessive cerebelloparenchymal disorder type 3 is a genetic neurological disorder. It is caused by mutations in the PMPCA gene. Symptoms usually begin in infancy, childhood, or adolescence. This condition can cause uncoordinated and inaccurate movements, as well as unsteadiness or lack of coordination while walking. People with this condition may have intellectual disability in addition to developmental delays, including delay in the development of their abilities to speak and walk. This condition can cause involuntary eye movements. This condition is inherited in an autosomal recessive manner. This means a person must inherit a copy of the affected gene from both parents.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"at a variety of ages","SourceID__c":"ORPHA:1170","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0008943","ORPHANET_ID__c":"ORPHA:1170","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Trastorno cerebeloparenquimatoso autosómico recesivo tipo 3","Spanish_Description_Source__c":"ORPHA:1170","Spanish_Description__c":"Es una ataxia cerebelosa autosómica recesiva poco frecuente caracterizada por la aparición precoz de signos y síntomas cerebelosos no progresivos o lentamente progresivos, que incluyen ataxia troncal y de la marcha, disartria, dismetría, disdiadococinesia, temblor y nistagmo. El retraso del desarrollo psicomotor y la discapacidad intelectual son variables. Otras características adicionales descritas son espasticidad, hipotonía, cataratas y pérdida auditiva neurosensorial, entre otras. Las neuroimágenes muestran atrofia cerebelosa.","Spanish_Disease_Name__c":"trastorno cerebeloparenquimatoso autosómico recesivo tipo 3","Spanish_GARD_Synonym__c":"ataxia espinocerebelosa autosómica recesiva tipo 2; scar2","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":"Autosomal recessive cerebelloparenchymal disorder type 3 is a genetic neurological disorder. It is caused by mutations in the PMPCA gene. Symptoms usually begin in infancy, childhood, or adolescence. This condition can cause uncoordinated and inaccurate movements, as well as unsteadiness or lack of coordination while walking. People with this condition may have intellectual disability in addition to developmental delays, including delay in the development of their abilities to speak and walk. This condition can cause involuntary eye movements. This condition is inherited in an autosomal recessive manner. This means a person must inherit a copy of the affected gene from both parents.","Curated_Disease_Description_Source__c":"ORPHA:1170","GARD_Synonym__c":"autosomal recessive cerebelloparenchymal disorder type 3; autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca; autosomal recessive spinocerebellar ataxia type 2; cerebellar hypoplasia, nonprogressive norman type; cerebelloparenchymal disorder iii; cpd iii; pmpca autosomal recessive congenital cerebellar ataxia; scar2; scar2 (spinocerebellar ataxia autosomal recessive 2)","Name":"Autosomal recessive spinocerebellar ataxia 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.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":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Anterior segment of Eye","Tag_Category__c":"Specialist","curated_tag_name":"Front part of eye disease"},{"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:1170"},{"Age_At_Onset__c":"Adolescent","Provided_By__c":"ORPHA:1170"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:1170"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1859298"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0001199","Source__c":"RareSource"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715369006","Source__c":"C1859298; MONDO:0008943","Xref__c":"715369006"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C565865","Source__c":"MONDO:0008943","Xref__c":"C565865"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1859298","Source__c":"C1859298","Xref__c":"C1859298"},{"URL__c":"https://www.omim.org/entry/213200","Source__c":"C1859298; MONDO:0008943; ORPHA:1170","Xref__c":"OMIM:213200"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=349134","Source__c":"C1859298","Xref__c":"MEDGEN:349134"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080061","Source__c":"MONDO:0008943","Xref__c":"DOID:0080061"},{"URL__c":"https://www.orpha.net/en/disease/detail/1170","Source__c":"C1859298; MONDO:0008943; ORPHA:1170","Xref__c":"ORPHA:1170"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0008943","Source__c":"GARD:0001199","Xref__c":"MONDO:0008943"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PMPCA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increase in size of the cisterna magna, one of three principal openings in the subarachnoid space between the arachnoid and pia mater, located between the cerebellum and the dorsal surface of the medulla oblongata.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002280","HPO_Synonym__c":"Large cisterna magna","HPO_Name__c":"Enlarged cisterna magna","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Tendon reflexes that are noticeably more active than usual (conventionally denoted 3+ on clinical examination). Brisk reflexes may or may not indicate a neurological lesion. They are distinguished from hyperreflexia by the fact that hyerreflexia is characterized by hyperactive repeating (clonic) reflexes, which are considered to be always abnormal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001348","HPO_Synonym__c":"Brisk deep tendon reflexes","HPO_Name__c":"Brisk reflexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Very frequent (80-99%)","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:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Wasting (atrophy) of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006855","HPO_Synonym__c":"Atrophy of cerebellar vermis; Atrophy of the cerebellar vermis; Vermian atrophy","HPO_Name__c":"Cerebellar vermis atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","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:1170","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:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0009830","HPO_Synonym__c":"Peripheral nerve damage; Peripheral neuritis","HPO_Name__c":"Peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001252","HPO_Synonym__c":"Low muscle tone; Low or weak muscle tone; Muscle hypotonia; Muscular hypotonia","HPO_Name__c":"Hypotonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A motor disorder characterized by a velocity-dependent increase in tonic stretch reflexes with increased muscle tone, exaggerated (hyperexcitable) tendon reflexes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001257","HPO_Synonym__c":"Involuntary muscle stiffness, contraction, or spasm; Muscle spasticity; Muscular spasticity","HPO_Name__c":"Spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","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:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Paralysis of one or more extraocular muscles that are responsible for eye movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000602","HPO_Synonym__c":"Eye muscle paralysis; Paralysis of extraocular eye movement","HPO_Name__c":"Ophthalmoplegia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007272","HPO_Synonym__c":"Progressive mental and motor deterioration","HPO_Name__c":"Progressive psychomotor deterioration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Very frequent (80-99%)","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:1170","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:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Ocular motor apraxia is a deficiency in voluntary, horizontal, lateral, fast eye movements (saccades) with retention of slow pursuit movements. The inability to follow objects visually is often compensated by head movements. There may be decreased smooth pursuit, and cancelation of the vestibulo-ocular reflex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000657","HPO_Synonym__c":"Ocular motor apraxia","HPO_Name__c":"Oculomotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","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:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal buildup of lactic acid in the body, leading to acidification of the blood and other bodily fluids.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003128","HPO_Synonym__c":"Hyperlacticacidemia; Increased lactate in body; Lactic acidemia; Lacticacidemia; Lacticacidosis","HPO_Name__c":"Lactic acidosis","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A failure to achieve the ability to walk at an appropriate developmental stage. Most children learn to walk in a series of stages, and learn to walk short distances independently between 12 and 15 months.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031936","HPO_Synonym__c":"Delayed walking","HPO_Name__c":"Delayed ability to walk","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Diffuse unlocalised atrophy affecting the cerebrum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002506","HPO_Synonym__c":"Cerebral atrophy, diffuse","HPO_Name__c":"Diffuse cerebral atrophy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A height below that which is expected according to age and sex norms. Although there is no universally accepted definition of short stature, many refer to \\\"short stature\\\" as height more than 2 standard deviations below the mean for age and sex (or below the 3rd percentile for age and sex dependent norms).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004322","HPO_Synonym__c":"Decreased body height; Height less than 3rd percentile; Short stature; Small stature; Stature below 3rd percentile","HPO_Name__c":"Short stature","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Occasional (5-29%)","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:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal dilatation of the fourth cerebral ventricle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002198","HPO_Synonym__c":"Enlarged fourth ventricle","HPO_Name__c":"Dilated fourth ventricle","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","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:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001763","HPO_Synonym__c":"Flat feet; Flat foot","HPO_Name__c":"Pes planus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Reduced ability affecting mainly visuospatial cognition which may be tested using pattern construction (for example by Differential Ability Scales, which test a person's strengths and weaknesses across a range of intellectual abilities).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010794","HPO_Name__c":"Impaired visuospatial constructive cognition","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Nystagmus made apparent by looking to the right or to the left.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000640","HPO_Name__c":"Gaze-evoked nystagmus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of ataxia characterized by the inability to carry out movements with the correct range and motion across the plane of more than one joint related to incorrect estimation of the distances required for targeted movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001310","HPO_Synonym__c":"Lack of coordination of movement","HPO_Name__c":"Dysmetria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:1170","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A deficit in coordination of muscle movements. Coordination is defined as the orchestrated movement of multiple body parts as required to accomplish intended actions, like walking.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002311","HPO_Synonym__c":"Difficulties in coordination; Incoordination; Incoordination of limb movements; Limb incoordination; Poor coordination; Poor motor coordination","HPO_Name__c":"Incoordination","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Anterior segment of Eye","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["autosomal recessive cerebelloparenchymal disorder type 3"," autosomal recessive congenital cerebellar ataxia caused by mutation in pmpca"," autosomal recessive spinocerebellar ataxia type 2"," cerebellar hypoplasia, nonprogressive norman type"," cerebelloparenchymal disorder iii"," cpd iii"," pmpca autosomal recessive congenital cerebellar ataxia"," scar2"," scar2 (spinocerebellar ataxia autosomal recessive 2)"]}