{"Name":"Congenital bilateral perisylvian syndrome","DiseaseID__c":"GARD:0006011","id":6011,"encodedName":"congenital-bilateral-perisylvian-syndrome","IsDeleted":false,"Disease_Name_Full__c":"Congenital bilateral perisylvian syndrome","Xref_IDs__c":"438583008; C1845668; DOID:0080924; MEDGEN:337000; MONDO:0020340; ORPHA:98889","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":1,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"GARD:0006011","Disease_Description__c":"Bilateral perisylvian polymicrogyria (BPP) is a neurological disorder that affects the cerebral cortex (the outer surface of the brain). The cerebral cortex of the brain normally consists of several deep folds and grooves. In BPP, the grooves that develop during embryonic growth form improperly on both sides of the brain near the Sylvian fissure, resulting in an increased number of folds that are unusually small. Signs and symptoms typically become apparent at birth, infancy, or later during childhood, and may include partial paralysis of the face, tongue, jaw, and throat; problems with speech and swallowing; excessive drooling; and seizures. Mild to severe intellectual disability often is also present. Some people with BPP have other health problems or birth defects. Most cases of BPP occur sporadically in people with no family history of BPP. Rarely, more than one family member has BPP, and the pattern of inheritance depends on the cause. Genetic causes may include genetic changes in single genes and contiguous gene disorders such as 22q11.2 deletion syndrome. BPP has also been reported in association with twin pregnancy complications. The diagnosis of BPP is based on the symptoms present and a thorough neurological evaluation including various imaging techniques.","GARD_Name__c":"Congenital bilateral perisylvian syndrome","GARD_Synonym__c":"bilateral perisylvian polymicrogyria; perisylvian syndrome","Curated_Disease_Description_Source__c":"GARD:0006011","Curated_Disease_Description__c":"This rare neurological disease affects the outer layer of the brain, called the cerebral cortex, especially around a groove called the Sylvian fissure on both sides of the brain. Normally, this part of the brain develops deep folds and grooves, but in this disease the grooves form incorrectly, leading to many small, extra folds. Symptoms usually appear at birth, in infancy, or later in childhood, and can include weakness or partial paralysis of the face, tongue, jaw, and throat; trouble speaking and swallowing; and heavy drooling. Many people also have seizures and mild to severe intellectual disability. Some individuals have additional health problems or birth differences. Most cases occur in a single person with no family history, but occasionally more than one family member is affected, and the way it runs in families depends on the cause. Possible genetic causes include changes in single genes and chromosome changes such as 22q11.2 deletion syndrome. It has also been reported in connection with complications in twin pregnancies. Diagnosis is based on the pattern of symptoms and detailed neurological testing, including brain imaging.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy, at Birth, and as an Infant","SourceID__c":"ORPHA:98889","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Grouping","MONDO_ID__c":"MONDO:0020340","ORPHANET_ID__c":"ORPHA:98889","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Polimicrogiria perisilviana bilateral","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"polimicrogiria perisilviana bilateral","Spanish_GARD_Synonym__c":null,"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":"This rare neurological disease affects the outer layer of the brain, called the cerebral cortex, especially around a groove called the Sylvian fissure on both sides of the brain. Normally, this part of the brain develops deep folds and grooves, but in this disease the grooves form incorrectly, leading to many small, extra folds. Symptoms usually appear at birth, in infancy, or later in childhood, and can include weakness or partial paralysis of the face, tongue, jaw, and throat; trouble speaking and swallowing; and heavy drooling. Many people also have seizures and mild to severe intellectual disability. Some individuals have additional health problems or birth differences. Most cases occur in a single person with no family history, but occasionally more than one family member is affected, and the way it runs in families depends on the cause. Possible genetic causes include changes in single genes and chromosome changes such as 22q11.2 deletion syndrome. It has also been reported in connection with complications in twin pregnancies. Diagnosis is based on the pattern of symptoms and detailed neurological testing, including brain imaging.","Curated_Disease_Description_Source__c":"GARD:0006011","GARD_Synonym__c":"bilateral perisylvian polymicrogyria; perisylvian syndrome","Name":"Congenital bilateral perisylvian syndrome","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Alianza Iberoamericana de Enfermedades Raras o Poco Frecuentes","Website__c":"https://aliber.org/web/"},{"Account_Name__c":"Federación Mexicana de Enfermedades Raras (FEMEXER)","Website__c":"http://www.femexer.org/"},{"Account_Name__c":"Federación Española de Enfermedades Raras","Website__c":"https://enfermedades-raras.org/"},{"Account_Name__c":"Federación Colombiana de Enfermedades Raras","Website__c":"http://www.fecoer.org"},{"Account_Name__c":"Federación Argentina de Enfermedades Poco Frecuentes","Website__c":"https://fadepof.org.ar/"},{"Account_Name__c":"Asociación Todos Unidos Enfermedades Raras Uruguay","Website__c":"https://atueru.org.uy/"},{"Account_Name__c":"Brain Foundation","Website__c":"http://www.brainfoundation.org.au/"},{"Account_Name__c":"PMG Awareness Organization","Website__c":"https://pmgawareness.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":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Infancy","Provided_By__c":"ORPHA:98889"},{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:98889"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:98889"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0006011","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK1329","Xref__c":"NBK1329"},{"URL__c":"https://www.orpha.net/en/disease/detail/98889","Source__c":"C1845668; MONDO:0020340; ORPHA:98889","Xref__c":"ORPHA:98889"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=337000","Source__c":"C1845668","Xref__c":"MEDGEN:337000"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0080924","Source__c":"MONDO:0020340","Xref__c":"DOID:0080924"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1845668","Source__c":"C1845668","Xref__c":"C1845668"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0020340","Source__c":"GARD:0006011","Xref__c":"MONDO:0020340"},{"URL__c":"https://hpo.jax.org/browse/term/HP:0032407","Source__c":"C1845668","Xref__c":"HP:0032407"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=438583008","Source__c":"C1845668","Xref__c":"438583008"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"PI4KA","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true},{"GeneSymbol__c":"ADGRG1","GHR_URL__c":"https://medlineplus.gov/genetics/gene/adgrg1","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Head circumference below 2 standard deviations below the mean for age and sex.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000252","HPO_Synonym__c":"Abnormally small cranium; Abnormally small skull; Decreased circumference of cranium; Decreased size of cranium; Decreased size of skull; Reduced head circumference; small cranium; Small head circumference","HPO_Name__c":"Microcephaly","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spastic paralysis affecting all four limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002510","HPO_Synonym__c":"Spastic quadriplegia","HPO_Name__c":"Spastic tetraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Developmental hypoplasia of the mandible.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000347","HPO_Synonym__c":"Decreased size of lower jaw; Decreased size of mandible; Hypoplasia of lower jaw; Hypoplasia of mandible; Hypoplastic mandible; Hypoplastic mandible condyle; Hypotrophic lower jaw; Hypotrophic mandible; Little lower jaw; Little mandible; Lower jaw deficiency; Lower jaw hypoplasia; Mandibular deficiency; Mandibular hypoplasia; Mandibular micrognathia; Micrognathia of lower jaw; Micromandible; Robin mandible; Severe hypoplasia of mandible; Small jaw; Small lower jaw; Small mandible; Underdevelopment of lower jaw; Underdevelopment of mandible","HPO_Name__c":"Micrognathia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Tongue extending beyond the alveolar ridges or teeth at rest.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0010808","HPO_Synonym__c":"Lingual prolapse; Lingual prominence; Lingual protrusion; Prolapse of tongue; Prominent tongue; Protruding tongue; Tongue protrusion; Tongue sticking out of mouth","HPO_Name__c":"Protruding tongue","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A flexion contracture is a bent (flexed) joint that cannot be straightened actively or passively. It is thus a chronic loss of joint motion due to structural changes in muscle, tendons, ligaments, or skin that prevents normal movement of joints.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001371","HPO_Synonym__c":"Flexed joint that cannot be straightened; Flexion contractures; Flexion contractures of joints","HPO_Name__c":"Flexion contracture","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","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:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Language impairment is a deficit in comprehension or production of language that includes reduced vocabulary, limited sentence structure, or impairments in written or spoken communication. Language abilities are substantially and quantifiably below age expectations.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002463","HPO_Synonym__c":"Language disorder","HPO_Name__c":"Language impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A defect of the chest wall characterized by a depression of the sternum, giving the chest (\\\"pectus\\\") a caved-in (\\\"excavatum\\\") appearance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000767","HPO_Synonym__c":"Funnel chest","HPO_Name__c":"Pectus excavatum","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Very frequent (80-99%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Any abnormality of the masticatory muscle.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0410011","HPO_Synonym__c":"Abnormality of muscles of mastication","HPO_Name__c":"Abnormality of masticatory muscle","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of one or more muscles innervated by the facial nerve (the seventh cranial nerve).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030319","HPO_Synonym__c":"Decreased facial muscle strength; Decreased strength of facial muscles; Face weakness; Facial muscle weakness; Facial weakness; Myasthenia of facial muscles; Reduced facial muscle strength; Weakness of face; Weakness of facial musculature","HPO_Name__c":"Weakness of facial musculature","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decreased magnitude of the sensory perception of sound.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000365","HPO_Synonym__c":"Deafness; Hearing defect; Hearing impairment; Hypacusis","HPO_Name__c":"Hearing impairment","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Bilateral impairment of the function of the cranial nerves 9-12, which control musculature involved in eating, swallowing, and speech. Pseudobulbar paralysis is characterized clinically by dysarthria, dysphonia, and dysphagia with bifacial paralysis, and may be accompanied by Pseudobulbar behavioral symptoms such as enforced crying and laughing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007024","HPO_Synonym__c":"Pseudobulbar palsy; Pseudobulbar syndrome","HPO_Name__c":"Pseudobulbar paralysis","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Floppiness/hypotonia is defined as reduced resistance to passive movement of joints. Physical examination of floppy/hypotonic infants shows head lag, lack of shoulder and elbow muscle contraction on traction response, inability to tighten the shoulder girdle muscles (or slipping through) when held under the axillae, scarf sign (when the arm is pulled to the opposite side, the arm wraps around the neck with the elbow crossing midline), hyperdorsiflexion of the feet, easy apposition of the thumb against the forearm, feet touching the cheek with ease and without discomfort, frog leg position, and inverted U sign on ventral suspension (head, arms, and legs hanging down without elbow or knee flexion and the trunk rounded in a dome shape).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008947","HPO_Synonym__c":"Decreased muscle tone in infant; Hypotonia early; Hypotonia in infancy; Hypotonia, early; Infantile hypotonia; Infantile muscular hypotonia","HPO_Name__c":"Floppy infant","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","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:98889","HPO_Frequency__c":"Frequent (30-79%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Spasticity (velocity-dependent increase in tonic stretch reflexes with increased muscle tone and hyperexcitable tendon reflexes) in the muscles of the lower limbs, hips, and pelvis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002061","HPO_Synonym__c":"Lower extremities spasticity; Lower extremity spasticity; Spastic lower extremities; Spastic lower extremity; Spastic lower limb; Spastic lower limbs; Spasticity in lower extremities; Spasticity in lower extremity; Spasticity in lower limb; Spasticity in lower limbs; Spasticity of lower extremities; Spasticity of lower extremity; Spasticity of lower limb; Spasticity of lower limbs","HPO_Name__c":"Lower limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Weakness or partial paralysis in the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002385","HPO_Synonym__c":"Partial paralysis of legs","HPO_Name__c":"Paraparesis","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Facial diplegia refers to bilateral facial palsy (bilateral facial palsy is much rarer than unilateral facial palsy).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001349","HPO_Synonym__c":"Bilateral facial weakness; Facial paresis, bilateral","HPO_Name__c":"Facial diplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Habitual flow of saliva out of the mouth.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002307","HPO_Synonym__c":"Dribbling; Drooling; Sialorrhea","HPO_Name__c":"Drooling","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec in the central region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012014","HPO_Name__c":"EEG with central focal spikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A focal-onset seizure is a type of seizure originating within networks limited to one hemisphere. They may be discretely localized or more widely distributed, and may originate in subcortical structures.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007359","HPO_Synonym__c":"Focal onset seizure; Focal seizure; Focal seizures; Focal-onset seizures; Partial seizure; Partial seizures; Seizure affecting one half of brain","HPO_Name__c":"Focal-onset seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Impairment of certain skills such as reading or writing, coordination, self-control, or attention that interfere with the ability to learn. The impairment is not related to a global deficiency of intelligence.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001328","HPO_Name__c":"Specific learning disability","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec in the frontal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012015","HPO_Name__c":"EEG with frontal focal spikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An inherited primary limb malformation disorder characterized by congenital contractures of two or more different body areas and without primary neurologic and/or muscle disease that affects limb function.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0005684","HPO_Name__c":"Distal arthrogryposis","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal anatomical location of the posterior lobe of the hypophysis, also known as the neurohypophysis. The posterior pituitary is normally present in the dorsal portion of the sella turcica, but when ectopic is usually near the median eminence. This defect is likely to be due to abnormal migration during embryogenesis.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011755","HPO_Synonym__c":"Ectopic neurohypophysis; Ectopic posterior pituitary lobe","HPO_Name__c":"Ectopic posterior pituitary","Feature_System__c":"Nervous System; Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Oral-motor apraxia is the inability to volitionally sequence oral movements of the speech structure for nonspeech tasks in the absence of neuromuscular deficits such as paralysis or muscle weakness. Oral-motor apraxia is diagnosed when, despite intact sensory motor function an individual is unable to use these effector systems under voluntary control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007301","HPO_Synonym__c":"Oral-motor apraxia","HPO_Name__c":"Oromotor apraxia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"The presence of complexes of repetitive spikes and waves in EEG.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002392","HPO_Synonym__c":"EEG: spike and multispike waves, 3-4 hz","HPO_Name__c":"EEG with polyspike wave complexes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Pachygyria with cortical thickness greater than 10 mm and a perisylvian predominant severity gradient. The severity gradient is determined based on the gyral width, with gyri typically wider than 5mm over the more severely affected regions. Perisylvian predominant gradient indicates pachygyria more severe other the occipital lobes but also includes a rare perisylvian-predominant pachygyria and a temporal predominant pachygyria.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0020190","HPO_Synonym__c":"Pachygyria with cortical thickness > 10 mm perisylvian predominant","HPO_Name__c":"Perisylvian predominant thick cortex pachygyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Cerebellar dysplasia (abnormal growth or development) is defined by abnormal cerebellar foliation, white matter arborization, and gray-white matter junction. Cerebellar dysplasia is a neuroimaging finding that describes abnormalities of both the cerebellar cortex and white matter and is associated with variable neurodevelopmental outcome. Dysplasia may globally involve the cerebellum or affect only one cerebellar hemisphere. In addition, cerebellar dysplasia may be associated with cortical/subcortical cysts.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007033","HPO_Name__c":"Cerebellar dysplasia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Inspiration of a foreign object into the airway.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002835","HPO_Name__c":"Aspiration","Feature_System__c":"Respiratory system","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormal restriction of fetal growth with fetal weight below the tenth percentile for gestational age.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001511","HPO_Synonym__c":"Fetal growth restriction; FGR; In utero growth retardation; Intrauterine growth failure; Intrauterine growth restriction; Intrauterine growth retardation, IUGR; Intrauterine retardation; IUGR; Prenatal growth deficiency; Prenatal growth failure; Prenatal growth retardation; Prenatal onset growth retardation; Prenatal-onset growth retardation; Small for gestational age infant","HPO_Name__c":"Intrauterine growth retardation","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002509","HPO_Synonym__c":"Appendicular hypertonia; Increased muscle tone of arm or leg","HPO_Name__c":"Limb hypertonia","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Absence or abnormal closure of the choana (the posterior nasal aperture). Most embryologists believe that posterior choanal atresia results from a failure of rupture between the 35th and 38th day of fetal life of the partition which separates the bucconasal or buccopharyngeal membranes. The resultant choanal atresia may be unilateral or bilateral, bony or membranous, complete or incomplete. In over 90 per cent of cases the obstruction is bony, while in the remainder it is membranous. The bony type of atresia is commonly located 1-2 mm. anterior to the posterior edge of the hard palate, and the osseous septum varies in thickness from 1 to 10 mm. In the membranous form of choanal atresia the obstruction usually occurs further posteriorly. In approximately one third of cases the atresia is bilateral.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000453","HPO_Synonym__c":"Blockage of the rear opening of the nasal cavity","HPO_Name__c":"Choanal atresia","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Very frequent (80-99%)","Feature__r":{"HPO_Description__c":"A type of perisylvian polymicrogyria that affects both sides of the brain.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0032407","HPO_Name__c":"Bilateral perisylvian polymicrogyria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"EEG with focal sharp transient waves of a duration less than 80 msec in the parietal region.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012017","HPO_Name__c":"EEG with parietal focal spikes","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Procedure_EEG"}},{"Provided_By__c":"ORPHA:98889","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:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A focal sensory seizure is a type seizure beginning with a subjective sensation.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0011157","HPO_Synonym__c":"Focal sensory seizures; Partial sensory seizure; Sensory aura","HPO_Name__c":"Focal sensory seizure","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:98889","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Difficulty in swallowing.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002015","HPO_Synonym__c":"Difficulty swallowing; Poor swallowing; Swallowing difficulties; Swallowing difficulty","HPO_Name__c":"Dysphagia","Feature_System__c":"Nervous System; Digestive System","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology","Congenital Abnormality"],"Specialist":["Genetics","Neurology","Epilepsy","Neurodevelopmental disabilities","Pediatrics"],"Account":["Epilepsy"]},"synonyms":["bilateral perisylvian polymicrogyria"," perisylvian syndrome"],"spanishId":13628,"spanishName":"polimicrogiria-bilateral-perisilviana"}