{"Name":"X-linked sideroblastic anemia with ataxia","DiseaseID__c":"GARD:0000668","id":668,"encodedName":"x-linked-sideroblastic-anemia-with-ataxia","IsDeleted":false,"Disease_Name_Full__c":"X-linked sideroblastic anemia with ataxia","Xref_IDs__c":"719816006; C1845028; C536358; DOID:0050554; MEDGEN:335078; MONDO:0010524; OMIM:301310; ORPHA:2802","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":1,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":1,"No_of_Disease_Descriptions__c":4,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0010524","Disease_Description__c":"A rare syndromic, inherited form of sideroblastic anemia characterized by mild to moderate anemia (with hypochromia and microcytosis) and early-onset, non- or slowly progressive spinocerebellar ataxia.","GARD_Name__c":"X-linked sideroblastic anemia with ataxia","GARD_Synonym__c":"anaemia sideroblastic and spinocerebellar ataxia; anemia sideroblastic and spinocerebellar ataxia; anemia, sideroblastic, with ataxia, x-linked recessive; asat; pagon-bird-detter syndrome; scax6; sideroblastic anaemia with spinocerebellar ataxia; sideroblastic anemia with spinocerebellar ataxia; spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia; x-linked sideroblastic anaemia and ataxia; x-linked sideroblastic anaemia with spinocerebellar ataxia; x-linked sideroblastic anemia and ataxia; x-linked sideroblastic anemia and spinocerebellar ataxia; x-linked sideroblastic anemia with spinocerebellar ataxia; xlsa-a","Curated_Disease_Description_Source__c":"MONDO:0010524","Curated_Disease_Description__c":"X-linked sideroblastic anemia and ataxia is a rare condition that is characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition primarily occurs in males. Anemia is defined by a shortage of healthy red blood cells. Sideroblastic anemia occurs when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. The anemia seen in people with this condition is typically mild. X-linked sideroblastic anemia and ataxia leads to an abnormal accumulation of iron in red blood cells. The iron-loaded red blood cells, which are present in bone marrow, are called ring sideroblasts. X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. Ataxia can make it difficult to sit, stand, and walk unassisted. People with this condition may find it difficult to make rapid, alternating movements (dysdiadochokinesia), such as tapping their foot.  In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria), such as reaching out to grab an object. Affected individuals can also experience involuntary rhythmic shaking that worsens during movement (intention tremor). Mild speech difficulties (dysarthria) and abnormal eye movements have also been reported in some individuals with X-linked sideroblastic anemia and ataxia.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"as an Infant and as a Child","SourceID__c":"ORPHA:2802","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010524","ORPHANET_ID__c":"ORPHA:2802","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Anemia sideroblástica ligada al cromosoma x y ataxia espinocerebelosa","Spanish_Description_Source__c":"ORPHA:2802","Spanish_Description__c":"Es una forma de anemia sideroblástica hereditaria, muy poco frecuente, caracterizada por anemia leve o moderada (con hipocromía y microcitosis) y ataxia espinocerebelosa, de inicio precoz y progresión lenta o prácticamente inexistente.","Spanish_Disease_Name__c":"anemia sideroblástica ligada al cromosoma x y ataxia espinocerebelosa","Spanish_GARD_Synonym__c":"anemia sideroblástica ligada al cromosoma x con ataxia; síndrome de pagon-bird-detter; xlsa-a","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":"X-linked sideroblastic anemia and ataxia is a rare condition that is characterized by a blood disorder called sideroblastic anemia and movement problems known as ataxia. This condition primarily occurs in males. Anemia is defined by a shortage of healthy red blood cells. Sideroblastic anemia occurs when developing red blood cells called erythroblasts do not make enough hemoglobin, which is the protein that carries oxygen in the blood. People with X-linked sideroblastic anemia and ataxia have red blood cells that are smaller than normal (microcytic) and appear pale (hypochromic) because of the shortage of hemoglobin. The anemia seen in people with this condition is typically mild. X-linked sideroblastic anemia and ataxia leads to an abnormal accumulation of iron in red blood cells. The iron-loaded red blood cells, which are present in bone marrow, are called ring sideroblasts. X-linked sideroblastic anemia and ataxia causes problems with balance and coordination that appear early in life. Ataxia can make it difficult to sit, stand, and walk unassisted. People with this condition may find it difficult to make rapid, alternating movements (dysdiadochokinesia), such as tapping their foot.  In addition to ataxia, people with this condition often have trouble coordinating movements that involve judging distance or scale (dysmetria), such as reaching out to grab an object. Affected individuals can also experience involuntary rhythmic shaking that worsens during movement (intention tremor). Mild speech difficulties (dysarthria) and abnormal eye movements have also been reported in some individuals with X-linked sideroblastic anemia and ataxia.","Curated_Disease_Description_Source__c":"MONDO:0010524","GARD_Synonym__c":"anaemia sideroblastic and spinocerebellar ataxia; anemia sideroblastic and spinocerebellar ataxia; anemia, sideroblastic, with ataxia, x-linked recessive; asat; pagon-bird-detter syndrome; scax6; sideroblastic anaemia with spinocerebellar ataxia; sideroblastic anemia with spinocerebellar ataxia; spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia; x-linked sideroblastic anaemia and ataxia; x-linked sideroblastic anaemia with spinocerebellar ataxia; x-linked sideroblastic anemia and ataxia; x-linked sideroblastic anemia and spinocerebellar ataxia; x-linked sideroblastic anemia with spinocerebellar ataxia; xlsa-a","Name":"X-linked sideroblastic anemia with ataxia","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"National Ataxia Foundation","Website__c":"https://ataxia.org/"},{"Account_Name__c":"Ataxia UK","Website__c":"https://www.ataxia.org.uk/"}],"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":"Hematology","Tag_Category__c":"Disease Category;Specialist","category_description":"Blood diseases affect the blood or blood-forming organs, including red blood cells, white blood cells, platelets, plasma, and bone marrow.","curated_tag_name":"Blood 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":"Mitochondrial","Tag_Category__c":"Account;Cause;Disease Category","category_description":"Mitochondrial diseases are a group of genetic diseases that affect the ability of the body's cells to make energy.","curated_tag_name":"Mitochondrial diseases"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2802"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:2802"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1845028"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0000668","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050554","Source__c":"MONDO:0010524","Xref__c":"DOID:0050554"},{"URL__c":"https://www.orpha.net/en/disease/detail/2802","Source__c":"C1845028; MONDO:0010524; ORPHA:2802","Xref__c":"ORPHA:2802"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536358","Source__c":"MONDO:0010524","Xref__c":"C536358"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=719816006","Source__c":"C1845028; MONDO:0010524","Xref__c":"719816006"},{"URL__c":"https://www.omim.org/entry/301310","Source__c":"C1845028; MONDO:0010524; ORPHA:2802","Xref__c":"OMIM:301310"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=335078","Source__c":"C1845028","Xref__c":"MEDGEN:335078"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845028","Source__c":"C1845028","Xref__c":"C1845028"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010524","Source__c":"GARD:0000668","Xref__c":"MONDO:0010524"},{"URL__c":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia","Source__c":"GARD:0000668","Xref__c":"https://medlineplus.gov/genetics/condition/x-linked-sideroblastic-anemia-and-ataxia"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ABCB7","GHR_URL__c":"https://medlineplus.gov/genetics/gene/abcb7","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["X-linked recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2802","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:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of anemia characterized by an abnormally low concentration of hemoglobin in the erythrocytes and lower than normal size of the erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004840","HPO_Synonym__c":"Hypochromic, microcytic anemia","HPO_Name__c":"Hypochromic microcytic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A type of erythrocyte inclusion characterized by basophilic stippling of erythrocytes, that is, by numerous very small coarse or fine blue granules within the cytoplasm with the additional stipulation that the stippled particles are due to iron granules (demonstrable by the Prussian blue stain).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020081","HPO_Name__c":"Pappenheimer bodies","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of motor delay characterized by a delay in acquiring the ability to control the large muscles of the body for walking, running, sitting, and crawling.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002194","HPO_Synonym__c":"Delayed attainment of gross motor milestones; Delayed attainment of gross motor skills; Delayed development of gross motor milestones; Delayed development of gross motor skills; Delayed gross motor milestones; Delayed gross motor skills; Delayed motor skills; Developmental delay, gross motor; Gross motor delay; Limited gross motor development; Limited gross motor skills","HPO_Name__c":"Delayed gross motor development","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"A mental disorder characterized by a disintegration of thought processes and emotional responsiveness. It most commonly manifests as auditory hallucinations, paranoid or bizarre delusions, or disorganized speech and thinking. It is accompanied by significant social or occupational dysfunction. The onset of symptoms typically occurs in young adulthood, with a global lifetime prevalence of about 1%. This term is not a helpful parent term to describe abnormal experiences.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100753","HPO_Name__c":"Schizophrenia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of abnormally shaped erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004447","HPO_Name__c":"Poikilocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Frequently experiencing feelings of being down, miserable, and/or hopeless; struggling to recover from these moods; having a pessimistic outlook on the future; feeling a pervasive sense of shame; having a low self-worth; experiencing thoughts of suicide and engaging in suicidal behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000716","HPO_Synonym__c":"Depression; Depressive episode; Depressivity","HPO_Name__c":"Depression","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","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:2802","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Testis in inguinal canal. That is, absence of one or both testes from the scrotum owing to failure of the testis or testes to descend through the inguinal canal to the scrotum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000028","HPO_Synonym__c":"Cryptorchism; Undescended testes; Undescended testis","HPO_Name__c":"Cryptorchidism","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Occasional (5-29%)","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:2802","HPO_Frequency__c":"Occasional (5-29%)","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:2802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A deficiency or slowing down of growth pre- and postnatally.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001510","HPO_Synonym__c":"Delayed growth; Growth deficiency; Growth delay; Growth failure; Growth retardation; Poor growth; Retarded growth","HPO_Name__c":"Growth delay","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Concentration of protoporphyrins in erythrocytes above the upper limit of normal.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012187","HPO_Name__c":"Increased erythrocyte protoporphyrin concentration","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Occasional (5-29%)","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:2802","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:2802","HPO_Frequency__c":"Uncommon (<1-4%)","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:2802","HPO_Frequency__c":"Uncommon (<1-4%)","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:2802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Autism is a neurodevelopmental disorder characterized by impaired social interaction and communication, and by restricted and repetitive behavior. Autism begins in childhood. It is marked by the presence of markedly abnormal or impaired development in social interaction and communication and a markedly restricted repertoire of activity and interest. Manifestations of the disorder vary greatly depending on the developmental level and chronological age of the individual (DSM-IV).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000717","HPO_Synonym__c":"Autism","HPO_Name__c":"Autism","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A tendency to fall or the inability to keep oneself from falling; imbalance. The retropulsion test is widely regarded as the gold standard to evaluate postural instability, Use of the retropulsion test includes a rapid balance perturbation in the backward direction, and the number of balance correcting steps (or total absence thereof) is used to rate the degree of postural instability. Healthy subjects correct such perturbations with either one or two large steps, or without taking any steps, hinging rapidly at the hips while swinging the arms forward as a counterweight. In patients with balance impairment, balance correcting steps are often too small, forcing patients to take more than two steps. Taking three or more steps is generally considered to be abnormal, and taking more than five steps is regarded as being clearly abnormal. Markedly affected patients continue to step backward without ever regaining their balance and must be caught by the examiner (this would be called true retropulsion). Even more severely affected patients fail to correct entirely, and fall backward like a pushed toy soldier, without taking any corrective steps.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002172","HPO_Synonym__c":"Balance impairment","HPO_Name__c":"Postural instability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Sideroblastic anemia results from a defect in the incorporation of iron into the heme molecule. A sideroblast is an erythroblast that has stainable deposits of iron in cytoplasm (this can be demonstrated by Prussian blue staining).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001924","HPO_Synonym__c":"Hypersideremic anemia","HPO_Name__c":"Sideroblastic anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Very frequent (80-99%)","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:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001347","HPO_Synonym__c":"Increased deep tendon reflexes; Increased reflexes","HPO_Name__c":"Hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","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":"ORPHA:2802","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A reduction in erythrocytes volume or hemoglobin concentration.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001903","HPO_Synonym__c":"Anaemia; Low number of red blood cells or hemoglobin","HPO_Name__c":"Anemia","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","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:2802","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increased amount of iron in the bone marrow.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0034499","HPO_Synonym__c":"Bone marrow: iron stores increased","HPO_Name__c":"Increased bone marrow iron","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","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:2802","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Description__c":"Excretion of non-amino organic acids in urine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001992","HPO_Name__c":"Organic aciduria","HPO_Feature_Type__c":"Lab"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormally increased variability in the size of erythrocytes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011273","HPO_Synonym__c":"Unequal size of red blood cells","HPO_Name__c":"Anisocytosis","Feature_System__c":"Blood and Blood-Forming Tissue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Occasional (5-29%)","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:2802","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000486","HPO_Synonym__c":"Cross-eyed; Squint; Squint eyes","HPO_Name__c":"Strabismus","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2802","HPO_Frequency__c":"Frequent (30-79%)","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"}}],"tags":{"Cause":["Genetics","Inborn Errors of Metabolism","Mitochondrial"],"Disease Category":["Genetics","Neurology","Hematology","Inborn Errors of Metabolism","Mitochondrial"],"Specialist":["Genetics","Neurology","Hematology","Pediatrics"],"Account":["Mitochondrial","Ataxia"]},"synonyms":["anaemia sideroblastic and spinocerebellar ataxia"," anemia sideroblastic and spinocerebellar ataxia"," anemia, sideroblastic, with ataxia, x-linked recessive"," asat"," pagon-bird-detter syndrome"," scax6"," sideroblastic anaemia with spinocerebellar ataxia"," sideroblastic anemia with spinocerebellar ataxia"," spinocerebellar ataxia, x-linked 6, with or without sideroblastic anemia"," x-linked sideroblastic anaemia and ataxia"," x-linked sideroblastic anaemia with spinocerebellar ataxia"," x-linked sideroblastic anemia and ataxia"," x-linked sideroblastic anemia and spinocerebellar ataxia"," x-linked sideroblastic anemia with spinocerebellar ataxia"," xlsa-a"]}