{"Name":"Pontocerebellar hypoplasia type 2","DiseaseID__c":"GARD:0010705","id":10705,"encodedName":"pontocerebellar-hypoplasia-type-2","IsDeleted":false,"Disease_Name_Full__c":"Pontocerebellar hypoplasia type 2","Xref_IDs__c":"715463008; C124057; C2932714; C548070; DOID:0112328; MEDGEN:420956; MONDO:0016759; ORPHA:2524","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":5,"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":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":2,"Description_Source__c":"MONDO:0016759","Disease_Description__c":"A rare, genetic form of pontocerebellar hypoplasia characterized by pontocerebellar hypoplasia and progressive neocortical atrophy that manifests clinically with uncoordinated sucking and swallowing, and generalized clonus in the neonate. In early childhood, spasticity, chorea/dyskinesia, seizures and progressive microcephaly develop. Voluntary motor development is lacking.","GARD_Name__c":"Pontocerebellar hypoplasia type 2","GARD_Synonym__c":"congenital pontocerebellar hypoplasia type 2; pch2; pch2 - pontocerebellar hypoplasia type 2","Curated_Disease_Description_Source__c":"GARD:0010705","Curated_Disease_Description__c":"Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. PCH2 is caused by changes in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"as a Newborn and as an Infant","SourceID__c":"ORPHA:2524","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0016759","ORPHANET_ID__c":"ORPHA:2524","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Hipoplasia pontocerebelosa tipo 2","Spanish_Description_Source__c":"ORPHA:2524","Spanish_Description__c":"Es una forma de hipoplasia pontocerebelosa poco frecuente y de base genética caracterizada por hipoplasia pontocerebelosa y atrofia neocortical progresiva que se manifiesta clínicamente con descoordinación de la succión y la deglución, y clonus generalizado en el neonato. En la primera infancia, se desarrolla espasticidad, corea/discinesia, crisis epilépticas y microcefalia progresiva. No hay desarrollo del control motor voluntario.","Spanish_Disease_Name__c":"hipoplasia pontocerebelosa tipo 2","Spanish_GARD_Synonym__c":"hpc2","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":"Pontocerebellar hypoplasia type 2 (PCH2) is a rare condition that affects the development of the brain. Signs and symptoms vary but may include microcephaly, developmental delay with lack of voluntary motor development, intellectual disability and movement disorders (i.e. chorea, dystonia, and spasticity). Affected people may also experience dysphagia (difficulty swallowing), impaired vision, seizures and an inability to communicate. PCH2 is caused by changes in the TSEN54, TSEN2, TSEN34, or SEPSECS gene and is inherited in an autosomal recessive manner.","Curated_Disease_Description_Source__c":"GARD:0010705","GARD_Synonym__c":"congenital pontocerebellar hypoplasia type 2; pch2; pch2 - pontocerebellar hypoplasia type 2","Name":"Pontocerebellar hypoplasia type 2","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Fetal Health Foundation","Website__c":"https://www.fetalhealthfoundation.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":"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":"Epilepsy","Tag_Category__c":"Account;Specialist","curated_tag_name":"Epilepsy"},{"Tag_Name__c":"Neuromuscular medicine","Tag_Category__c":"Specialist","curated_tag_name":"Neuromuscular medicine"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:2524"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:2524"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C2932714"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0010705","Source__c":"RareSource"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0112328","Source__c":"MONDO:0016759","Xref__c":"DOID:0112328"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C2932714","Source__c":"C2932714","Xref__c":"C2932714"},{"URL__c":"https://evsexplore.semantics.cancer.gov/evsexplore/concept/ncit/C124057","Source__c":"C2932714; MONDO:0016759","Xref__c":"C124057"},{"URL__c":"https://www.orpha.net/en/disease/detail/2524","Source__c":"C2932714; MONDO:0016759; ORPHA:2524","Xref__c":"ORPHA:2524"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C548070","Source__c":"MONDO:0016759","Xref__c":"C548070"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=715463008","Source__c":"C2932714; MONDO:0016759","Xref__c":"715463008"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=420956","Source__c":"C2932714","Xref__c":"MEDGEN:420956"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0016759","Source__c":"GARD:0010705","Xref__c":"MONDO:0016759"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"TSEN2","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tsen2","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TSEN34","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tsen34","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TSEN15","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"TSEN54","GHR_URL__c":"https://medlineplus.gov/genetics/gene/tsen54","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"SEPSECS","GHR_URL__c":"https://medlineplus.gov/genetics/gene/sepsecs","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A bilateral tonic-clonic seizure with generalized onset is a type of bilateral tonic-clonic seizure characterized by generalized onset; these seizures rapidly engage networks in both hemispheres at the start of the seizure.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0025190","HPO_Synonym__c":"Generalised tonic-clonic seizure without focal onset; Generalised tonic-clonic seizure without partial onset; Generalised tonic-clonic seizures without focal onset; Generalised-onset tonic-clonic seizure; Generalized tonic-clonic seizure without focal onset; Generalized tonic-clonic seizure without partial onset; Generalized tonic-clonic seizures without focal onset; Generalized-onset tonic-clonic seizure; Primarily generalized tonic-clonic seizures; Primary generalized tonic-clonic seizure; Primary generalized tonic-clonic seizures","HPO_Name__c":"Bilateral tonic-clonic seizure with generalized onset","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the ventricular system of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002119","HPO_Synonym__c":"Cerebral ventricular dilatation; Dilated cerebral ventricle; Dilated cerebral ventricles; Dilated ventricles; Enlarged cerebral ventricles; Enlarged ventricles; Enlarged ventricular system; Large cerebral ventricles and cisternae; Ventricular dilatation","HPO_Name__c":"Ventriculomegaly","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Uncommon (<1-4%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002350","HPO_Synonym__c":"Cerebellar cysts","HPO_Name__c":"Cerebellar cyst","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the ventral portion of the pons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006850","HPO_Synonym__c":"Underdeveloped ventral pons","HPO_Name__c":"Hypoplasia of the ventral pons","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A condition in which the stomach contents leak backwards from the stomach into the esophagus through the lower esophageal sphincter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002020","HPO_Synonym__c":"Acid reflux; Acid reflux disease; Gastro-esophageal reflux; Gastroesophageal reflux disease; GERD; GORD; Heartburn","HPO_Name__c":"Gastroesophageal reflux","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of the gyri (i.e., the ridges) of the cerebral cortex of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002536","HPO_Synonym__c":"Abnormal gyration; Cerebral gyral anomalies","HPO_Name__c":"Abnormal cortical gyration","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Delay or absence of the swallow response, reflexes triggered by the contact the food bolus makes with the anterior faucial pillars.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0031162","HPO_Name__c":"Impaired oropharyngeal swallow response","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Upturning of the big toe (and sometimes fanning of the other toes) in response to stimulation of the sole of the foot. If the Babinski sign is present it can indicate damage to the corticospinal tract.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003487","HPO_Synonym__c":"Extensor plantar reflexes; Extensor plantar response; Extensor plantar responses; Positive Babinski sign","HPO_Name__c":"Babinski sign","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"The distal and proximal transverse palmar creases are merged into a single transverse palmar crease on both hands.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007598","HPO_Name__c":"Bilateral single transverse palmar creases","Feature_System__c":"Skin System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A generalized myoclonic seizure is a type of generalized motor seizure characterized by bilateral, sudden, brief (<100 ms) involuntary single or multiple contraction of muscles or muscle groups of variable topography (axial, proximal limb, distal). Myoclonus is less regularly repetitive and less sustained than is clonus.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002123","HPO_Synonym__c":"Generalised epileptic myoclonus; Generalised myoclonic seizure; Generalized epileptic myoclonus; Generalized myoclonic seizures; Myoclonus seizures","HPO_Name__c":"Generalized myoclonic seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A form of loss of vision caused by damage to the visual cortex rather than a defect in the eye.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100704","HPO_Synonym__c":"Cortical blindness; Cortical visual impairment; Cortical/cerebral visual impairment; CVI","HPO_Name__c":"Cerebral visual impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011968","HPO_Synonym__c":"Decreased oral intake; Feeding difficulties; Feeding problems; Poor feeding","HPO_Name__c":"Feeding difficulties","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Excluded (0%)","Feature__r":{"HPO_Description__c":"An abnormal morphology (form) of the face or its components.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001999","HPO_Synonym__c":"Abnormal facial shape; Abnormal morphology of the face; Distinctive facies; Dysmorphic facial features; Dysmorphic facies; Facial dysmorphism; Unusual facial appearance; Unusual facies","HPO_Name__c":"Abnormal facial shape","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in size of the anatomic space between the arachnoid membrane and pia mater in the region surrounding the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012765","HPO_Name__c":"Widened cerebellar subarachnoid space","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased susceptibility to infections as manifested by repeated bouts of infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002719","HPO_Synonym__c":"Frequent infections; Frequent, severe infections; Increased frequency of infection; infections, recurrent; Predisposition to infections; Recurrent infections; Susceptibility to infection","HPO_Name__c":"Recurrent infections","Feature_System__c":"Immune System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A form of dystonia characterized by episodes of dystonia (often hemidystonia or generalized) lasting from minutes to hours. There are no dystonic symptoms between episodes.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002268","HPO_Synonym__c":"Episodic dystonia","HPO_Name__c":"Paroxysmal dystonia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","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:2524","HPO_Frequency__c":"Very frequent (80-99%)","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:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A type of Developmental delay characterized by a delay in acquiring motor skills.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001270","HPO_Synonym__c":"Delay in development of motor milestones; Delay in motor development; Delayed development of motor milestones; Delayed early motor milestones; Delayed motor development; Delayed motor milestones; Locomotor delay; Motor developmental delay; Motor developmental milestones not achieved; Motor retardation; Retarded motor development; Slow development of motor milestones","HPO_Name__c":"Motor delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200136","HPO_Synonym__c":"Oral pharyngeal dysphagia; Oropharyngeal dysphagia","HPO_Name__c":"Oral-pharyngeal dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inadequate sucking reflex, resulting in the difficult of newborns to be breast-fed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002033","HPO_Synonym__c":"Poor suck; Poor sucking; Sucking weakness","HPO_Name__c":"Poor suck","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Involuntary movements characterized by both athetosis (inability to sustain muscles in a fixed position) and chorea (widespread jerky arrhythmic movements).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001266","HPO_Synonym__c":"Choreoathetoid movements","HPO_Name__c":"Choreoathetosis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007663","HPO_Synonym__c":"Decreased central vision; Decreased clarity of vision; Decreased visual acuity; Poor visual acuity","HPO_Name__c":"Reduced visual acuity","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006895","HPO_Name__c":"Lower limb hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A short generalized seizure, of a duration of <15 min, not recurring within 24 h, occurring during a febrile episode not caused by an acute disease of the nervous system intracranial infection or severe metabolic disturbance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011171","HPO_Synonym__c":"Simple febrile convulsion; Simple febrile seizures; Simple fever fit","HPO_Name__c":"Simple febrile seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Inclination of the anterior surface of the forehead from the vertical more than two standard deviations above the mean (objective); or apparently excessive posterior sloping of the forehead in a lateral view.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000340","HPO_Synonym__c":"Inclined forehead; Posteriorly sloping forehead; Receding forehead; Sloping forehead","HPO_Name__c":"Sloping forehead","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Infantile spasms represent a subset of \\\"epileptic spasms\\\". Infantile Spasms are epileptic spasms starting in the first year of life (infancy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012469","HPO_Name__c":"Infantile spasms","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","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:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Progressive microcephaly is diagnosed when the head circumference falls progressively behind age- and sex-dependent norms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000253","HPO_Synonym__c":"Microcephaly, postnatal, progressive; Microcephaly, progressive; Progressively abnormally small cranium; Progressively abnormally small skull","HPO_Name__c":"Progressive microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","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:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Feeding problem necessitating gastrostomy tube feeding.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011471","HPO_Name__c":"Gastrostomy tube feeding in infancy","Feature_System__c":"Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the brainstem.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002365","HPO_Synonym__c":"Brainstem hypoplasia; Hypoplastic brain stem; Hypoplastic brainstem; Small brainstem; Underdeveloped brainstem","HPO_Name__c":"Hypoplasia of the brainstem","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A severe delay in the achievement of motor or mental milestones in the domains of development of a child.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011344","HPO_Synonym__c":"Global developmental delay, severe","HPO_Name__c":"Severe global developmental delay","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysplasia and dysgenesis of the corpus callosum are nonspecific descriptions that imply defective development of the corpus callosum. The term dysplasia is applied when the morphology of the corpus callosum is altered as a congenital trait. For instance, the corpus callosum may be hump-shaped, kinked, or a striped corpus callosum that lacks an anatomically distinct genu and splenium.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006989","HPO_Synonym__c":"Dysgenesis of corpus callosum; Dysplasia of corpus callosum","HPO_Name__c":"Dysplastic corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","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:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Rhabdomyolysis induced by a viral infection.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003558","HPO_Name__c":"Viral infection-induced rhabdomyolysis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Underdevelopment of the corpus callosum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002079","HPO_Synonym__c":"Corpus callosum hypoplasia; Hypoplasia of corpus callosum; Hypoplastic corpus callosum; Underdevelopment of part of brain called corpus callosum","HPO_Name__c":"Hypoplasia of the corpus callosum","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Increased muscle tone observed in the arms of the affected person.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0200049","HPO_Name__c":"Upper limb hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"Cerebellar hypoplasia is a descriptive term implying a cerebellum with a reduced volume, but a normal shape and is stable over time.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001321","HPO_Synonym__c":"Congenital cerebellar hypoplasia; Hypoplasia of cerebellum; Hypoplastic cerebellum; Small cerebellum; Underdeveloped cerebellum","HPO_Name__c":"Cerebellar hypoplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:2524","HPO_Frequency__c":"Occasional (5-29%)","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"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neuromuscular medicine","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["congenital pontocerebellar hypoplasia type 2"," pch2"," pch2 - pontocerebellar hypoplasia type 2"]}