{"Name":"Joubert syndrome","DiseaseID__c":"GARD:0006802","id":6802,"encodedName":"joubert-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Joubert syndrome","Xref_IDs__c":"423022202; 716997004; C5979921; C74996; DOID:0050777; MEDGEN:1876534; MONDO:0018772; NBK1325; OMIMPS:213300; ORPHA:475","USA_Estimate__c":"5,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":1,"No_of_HHS_records__c":3,"World_Estimate__c":"8,000 to 80,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":5,"No_of_Disease_Descriptions__c":5,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":1,"Description_Source__c":"MONDO:0018772","Disease_Description__c":"A rare, autosomal recessive congenital cerebellar ataxia characterized by congenital malformation of the brainstem and agenesis or hypoplasia of the cerebellar vermis leading to an abnormal respiratory pattern, nystagmus, hypotonia, ataxia, and delay in achieving motor milestones.","GARD_Name__c":"Joubert syndrome","GARD_Synonym__c":"cerebelloparenchymal disorder iv; classic joubert syndrome; cpd iv; familial aplasia of the vermis; jbts; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome","Curated_Disease_Description_Source__c":"GARD:0006802","Curated_Disease_Description__c":"Joubert syndrome is a condition that affects the development of the brain. This condition can also impact many other parts of the body. The signs and symptoms seen in people with Joubert syndrome can vary, even among members of the same family. The hallmark feature of Joubert syndrome is a combination of brain abnormalities called the molar tooth sign, which can be seen using magnetic resonance imaging (MRI). The molar tooth sign occurs when structures near the back of the brain, including the brainstem and the central part of the cerebellum (vermis), develop abnormally. This sign got its name because these brain abnormalities resemble the shape or outline of a molar tooth when seen on an MRI scan. Infants with Joubert syndrome often have low muscle tone (hypotonia) and may experience breathing problems, with episodes of unusually fast (hyperpnea) or slow (apnea) breathing. Abnormal eye movements, which can include rapid, involuntary eye movements (nystagmus) or problems with side-to-side movements of the eyes (oculomotor apraxia), are also common. Most individuals with Joubert syndrome have intellectual disabilities, which can range from mild to severe. Children with Joubert syndrome often have delayed development of speech and motor skills, such as sitting and walking. Problems with coordination and balance (ataxia) are common, but ataxia may become less severe over time. Most children with Joubert syndrome learn to walk on their own, although some affected individuals require walking support or wheelchair assistance. Additional signs and symptoms that are seen in people with Joubert syndrome can include seizures, difficulty regulating body temperature, and behavioral problems. People with Joubert syndrome may have a broad range of other signs and symptoms. Kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems may occur in affected individuals. Eye abnormalities may also be present and can include the breakdown of the light-sensitive tissue at the back of the eye (retinal dystrophy), which can cause vision loss. In the past, individuals with the molar tooth sign were separated into different subgroups of Joubert syndrome based on their additional features. The term “Joubert syndrome and related disorders” (JSRD) was used to refer to these subgroups. Today, all people with the molar tooth sign, including those with additional signs and symptoms, are considered to have Joubert syndrome.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"5,000","Age_at_Onset_Snippet_Text__c":"during Pregnancy","SourceID__c":"ORPHA:475","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0018772","ORPHANET_ID__c":"ORPHA:475","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de joubert aislado","Spanish_Description_Source__c":"ORPHA:475","Spanish_Description__c":"Es una ataxia cerebelosa congénita autosómica recesiva poco frecuente caracterizada por una malformación congénita del tronco cerebral y agenesia o hipoplasia del vermis cerebeloso que produce un patrón respiratorio anómalo, nistagmo, hipotonía, ataxia y retraso en la adquisición de los hitos motores.","Spanish_Disease_Name__c":"síndrome de joubert aislado","Spanish_GARD_Synonym__c":"cpd iv; síndrome de joubert clásico; síndrome de joubert puro; síndrome de joubert tipo a; síndrome de joubert-boltshauser; trastorno cerebeloparenquimatoso iv","Category_Linearization__c":"ORPHA:93890","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":"Joubert syndrome is a condition that affects the development of the brain. This condition can also impact many other parts of the body. The signs and symptoms seen in people with Joubert syndrome can vary, even among members of the same family. The hallmark feature of Joubert syndrome is a combination of brain abnormalities called the molar tooth sign, which can be seen using magnetic resonance imaging (MRI). The molar tooth sign occurs when structures near the back of the brain, including the brainstem and the central part of the cerebellum (vermis), develop abnormally. This sign got its name because these brain abnormalities resemble the shape or outline of a molar tooth when seen on an MRI scan. Infants with Joubert syndrome often have low muscle tone (hypotonia) and may experience breathing problems, with episodes of unusually fast (hyperpnea) or slow (apnea) breathing. Abnormal eye movements, which can include rapid, involuntary eye movements (nystagmus) or problems with side-to-side movements of the eyes (oculomotor apraxia), are also common. Most individuals with Joubert syndrome have intellectual disabilities, which can range from mild to severe. Children with Joubert syndrome often have delayed development of speech and motor skills, such as sitting and walking. Problems with coordination and balance (ataxia) are common, but ataxia may become less severe over time. Most children with Joubert syndrome learn to walk on their own, although some affected individuals require walking support or wheelchair assistance. Additional signs and symptoms that are seen in people with Joubert syndrome can include seizures, difficulty regulating body temperature, and behavioral problems. People with Joubert syndrome may have a broad range of other signs and symptoms. Kidney disease, liver disease, skeletal abnormalities (such as the presence of extra fingers and toes), or hormone (endocrine) problems may occur in affected individuals. Eye abnormalities may also be present and can include the breakdown of the light-sensitive tissue at the back of the eye (retinal dystrophy), which can cause vision loss. In the past, individuals with the molar tooth sign were separated into different subgroups of Joubert syndrome based on their additional features. The term “Joubert syndrome and related disorders” (JSRD) was used to refer to these subgroups. Today, all people with the molar tooth sign, including those with additional signs and symptoms, are considered to have Joubert syndrome.","Curated_Disease_Description_Source__c":"GARD:0006802","GARD_Synonym__c":"cerebelloparenchymal disorder iv; classic joubert syndrome; cpd iv; familial aplasia of the vermis; jbts; joubert syndrome type a; joubert-boltshauser syndrome; pure joubert syndrome","Name":"Joubert syndrome","Curated_USA_Estimate__c":"5,000","estimateUsa":"5,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Joubert Syndrome & Related Disorders Foundation","Website__c":"https://jsrdf.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":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Ataxia","Tag_Category__c":"Account","curated_tag_name":"Ataxia"},{"Tag_Name__c":"Neuro-Ophthalmology","Tag_Category__c":"Specialist","curated_tag_name":"Neuro-ophthalmic diseases"},{"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":"Antenatal","Provided_By__c":"ORPHA:475"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006802","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1325","Source__c":"Gene Review","Xref__c":"NBK1325"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0050777","Source__c":"MONDO:0018772","Xref__c":"DOID:0050777"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=716997004","Source__c":"C5979921; MONDO:0018772","Xref__c":"716997004"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C74996","Source__c":"C5979921; MONDO:0018772","Xref__c":"C74996"},{"URL__c":"https://www.omim.org/phenotypicSeries/PS213300","Source__c":"MONDO:0018772","Xref__c":"OMIMPS:213300"},{"URL__c":"https://www.orpha.net/en/disease/detail/475","Source__c":"C5979921; MONDO:0018772","Xref__c":"ORPHA:475"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0018772","Source__c":"GARD:0006802","Xref__c":"MONDO:0018772"},{"URL__c":"https://medlineplus.gov/genetics/condition/joubert-syndrome","Source__c":"GARD:0006802","Xref__c":"https://medlineplus.gov/genetics/condition/joubert-syndrome"},{"URL__c":"https://secure.ssa.gov/apps10/poms.nsf/lnx/0423022202","Xref__c":"423022202"},{"URL__c":"https://www.ninds.nih.gov/health-information/disorders/joubert-syndrome"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C5979921","Source__c":"C5979921","Xref__c":"C5979921"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1876534","Source__c":"C5979921","Xref__c":"MEDGEN:1876534"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"IFT74","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"AHI1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PDE6D","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CPLANE1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CSPP1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"PIBF1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"OFD1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/ofd1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TCTN3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEP120","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"MKS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"INPP5E","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TCTN1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ARMC9","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIAA0586","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEP41","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TMEM218","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TMEM67","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ARL3","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KATNIP","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CBY1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TOGARAM1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"B9D2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"KIAA0753","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SUFU","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"B9D1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ARL13B","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TCTN2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"HYLS1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"CEP104","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TMEM237","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002104","HPO_Synonym__c":"Absence of spontaneous respiration; Apneic episodes; Apnoea","HPO_Name__c":"Apnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","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:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormal morphology of vertebral body.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003312","HPO_Synonym__c":"Abnormal vertebral bodies; Abnormally shaped vertebrae","HPO_Name__c":"Abnormal form of the vertebral bodies","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Very frequent (80-99%)","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:475","HPO_Frequency__c":"Very frequent (80-99%)","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:475","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Episodes of very rapid breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002876","HPO_Synonym__c":"Hyperpnea, episodic","HPO_Name__c":"Episodic tachypnea","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from an anomaly of neuronal migration, i.e., of the process by which neurons travel from their origin to their final position in the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002269","HPO_Synonym__c":"Abnormal neuronal migration; Heterotopias/abnormal migration; Migrational brain disorder; Neuronal migration disorder","HPO_Name__c":"Abnormality of neuronal migration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A neural tube defect characterized by sac-like protrusions of the brain and the membranes that cover it through openings in the skull.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002084","HPO_Synonym__c":"Bifid skull; Cranium bifidum","HPO_Name__c":"Encephalocele","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of a cleft (gap, opening, or groove) in the oral cavity, including cleft of the upper lip and/or cleft of the palate. Cleft of the upper lip is visible as a groove or fissure in the lip, most frequently due to a congenital failure of the maxillary and median nasal processes to fuse. Cleft palate is characterized by a grooved depression or fissure in the roof of the mouth, most often resulting from a congenital failure of the palate to fuse properly. Clefts of the lip and palate can occur individually or together. It is preferable to code each defect separately.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000202","HPO_Synonym__c":"Cleft of the mouth; Oral cleft; Oral clefting","HPO_Name__c":"Orofacial cleft","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality resulting from a lack of intestinal ganglion cells (i.e., an aganglionic section of bowel) that results in bowel obstruction with enlargement of the colon.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002251","HPO_Synonym__c":"Enlarged colon lacking nerve cells; Hirschsprung megacolon","HPO_Name__c":"Aganglionic megacolon","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anteriorly-facing nostrils viewed with the head in the Frankfurt horizontal and the eyes of the observer level with the eyes of the subject. This gives the appearance of an upturned nose (upturned nasal tip).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000463","HPO_Synonym__c":"Anteverted nose; Anteverted nostrils; Nasal tip, upturned; Nostrils anteverted; Upturned nares; Upturned nasal tip; Upturned nose; Upturned nostrils","HPO_Name__c":"Anteverted nares","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Polymicrogyria is a congenital malformation of the cerebral cortex characterized by abnormal cortical layering (lamination) and an excessive number of small gyri (folds).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002126","HPO_Synonym__c":"More grooves in brain","HPO_Name__c":"Polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A left-right reversal (or mirror reflection) of the anatomical location of the major thoracic and abdominal organs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001696","HPO_Synonym__c":"All organs on wrong side of body; situs oppositus; situs transversus","HPO_Name__c":"Situs inversus totalis","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008872","HPO_Name__c":"Feeding difficulties in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","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:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A coloboma of the iris.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000612","HPO_Synonym__c":"Cat eye; Coloboma of iris; Coloboma of the iris; Keyhole iris","HPO_Name__c":"Iris coloboma","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The presence of an abnormal lateral curvature of the spine.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002650","HPO_Name__c":"Scoliosis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","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:475","HPO_Frequency__c":"Frequent (30-79%)","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:475","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the vermis of cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001320","HPO_Synonym__c":"Cerebellar vermal hypoplasia; Hypoplasia of the cerebellar vermis; Hypoplastic cerebellar vermis","HPO_Name__c":"Cerebellar vermis hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any structural anomaly of the heart and blood vessels.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030680","HPO_Synonym__c":"Abnormality of cardiovascular system morphology; Cardiovascular malformations","HPO_Name__c":"Abnormal cardiovascular system morphology","Feature_System__c":"Cardiovascular System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","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:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased height of the central portion of the eyebrow, forming a crescent, semicircular, or inverted U shape.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002553","HPO_Synonym__c":"Arched eyebrows; Broad, arched eyebrows; High, rounded eyebrows; High-arched eyebrows; Highly arched eyebrow; Thick, flared eyebrows","HPO_Name__c":"Highly arched eyebrow","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","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:475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0004422","HPO_Name__c":"Biparietal narrowing","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","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:475","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Facial height (length) is more than 2 standard deviations above the mean (objective); or, an apparent increase in the height (length) of the face (subjective).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000276","HPO_Synonym__c":"Elongation of face; Increased height of face; Increased length of face; Increased vertical dimension of face; Long face; Long facies; Vertical elongation of face; Vertical enlargement of face; Vertical excess of face; Vertical Facial Excess; Vertical hyperplasia of face; Vertical overgrowth of face","HPO_Name__c":"Long face","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000238","HPO_Synonym__c":"Hydrocephaly; Nonsyndromal hydrocephalus; Too much cerebrospinal fluid in the brain","HPO_Name__c":"Hydrocephalus","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Anterior positioning of the nasal root in comparison to the usual positioning for age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000426","HPO_Synonym__c":"Elevated nasal bridge; High nasal bridge; Prominent bridge of nose; Prominent nasal bridge; Prominent nasal root; Protruding bridge of nose; Protruding nasal bridge","HPO_Name__c":"Prominent nasal bridge","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"An anomaly of the rhythm or depth of breathing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002793","HPO_Synonym__c":"Abnormal pattern of respiration; Abnormal respiratory patterns; Unusual breathing patterns","HPO_Name__c":"Abnormal pattern of respiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary toe or toes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001829","HPO_Synonym__c":"Duplication of bones of the toes; Polydactyly of feet; Polydactyly of the foot","HPO_Name__c":"Foot polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000369","HPO_Synonym__c":"Low set ears; Low-set ears; Low-set pinnae; Lowset ears; Melotia","HPO_Name__c":"Low-set ears","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A kind of polydactyly characterized by the presence of a supernumerary finger or fingers.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001161","HPO_Synonym__c":"Extra finger; Finger polydactyly; Polydactyly of the hand; Supernumerary finger","HPO_Name__c":"Hand polydactyly","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","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:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007370","HPO_Synonym__c":"Absent/hypoplastic corpus callosum; Agenesis/hypoplastic corpus callosum; Complete or partial absence of the corpus callosum; Hypoplasia or absence of the corpus callosum; Hypoplastic or absent corpus callosum","HPO_Name__c":"Aplasia/Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Abnormality of the pituitary gland (also known as hypophysis), which is an endocrine gland that protrudes from the bottom of the hypothalamus at the base of the brain. The pituitary gland secretes the hormones ACTH, TSH, PRL, GH, endorphins, FSH, LH, oxytocin, and antidiuretic hormone. The secretion of hormones from the anterior pituitary is under the strict control of hypothalamic hormones, and the posterior pituitary is essentially an extension of the hypothalamus, so that hypothalamus and pituitary gland may be regarded as a functional unit.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000864","HPO_Name__c":"Abnormality of the hypothalamus-pituitary axis","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:475","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Ophthalmology","Psychiatry","Neuro-Ophthalmology","Neurodevelopmental disabilities","Pediatrics"],"Account":["Ataxia"]},"synonyms":["cerebelloparenchymal disorder iv"," classic joubert syndrome"," cpd iv"," familial aplasia of the vermis"," jbts"," joubert syndrome type a"," joubert-boltshauser syndrome"," pure joubert syndrome"]}