{"Name":"Hereditary spastic paraplegia 15","DiseaseID__c":"GARD:0009581","id":9581,"encodedName":"hereditary-spastic-paraplegia-15","IsDeleted":false,"Disease_Name_Full__c":"Hereditary spastic paraplegia 15","Xref_IDs__c":"709417000; C1849128; C536642; DOID:0110768; MEDGEN:341387; MONDO:0010044; OMIM:270700; ORPHA:100996","USA_Estimate__c":"1,000","No_of_Specialist_Tagsa__c":7,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":2,"World_Estimate__c":"1 to 8,000","No_of_HRSA_records__c":0,"Evidence_Based_Score__c":2,"No_of_Disease_Descriptions__c":3,"Disease_Characteristics_Score__c":8,"No_of_Age_at_Onset__c":3,"Description_Source__c":"MONDO:0010044","Disease_Description__c":"Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.","GARD_Name__c":"Hereditary spastic paraplegia 15","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in zfyve26; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; hereditary spastic paraparesis type 15; hereditary spastic paraplegia type 15; kjellin syndrome; spastic paraplegia 15, autosomal recessive; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; spastic paraplegia, retinal degeneration syndrome; spg15; zfyve26 autosomal recessive complex spastic paraplegia","Curated_Disease_Description_Source__c":"MONDO:0010044","Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":"1,000","Age_at_Onset_Snippet_Text__c":"from Childhood to Adulthood","SourceID__c":"ORPHA:100996","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0010044","ORPHANET_ID__c":"ORPHA:100996","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Paraplejía espástica autosómica recesiva tipo 15","Spanish_Description_Source__c":"ORPHA:100996","Spanish_Description__c":"La paraplejía espástica autosómica recesiva tipo 15 es una forma compleja de paraplejía espástica hereditaria caracterizada por un inicio en la infancia a la edad adulta de espasticidad lentamente progresiva de las extremidades inferiores (que resulta en alteraciones de la marcha, respuestas plantares extensoras y disminución de la sensibilidad vibratoria) asociada con discapacidad intelectual leve, ataxia cerebelosa leve, neuropatía periférica (con amiotrofia distal de miembros superiores) y degeneración retiniana. Es frecuente el hallazgo de cuerpo calloso delgado en estudios de imagen.","Spanish_Disease_Name__c":"paraplejía espástica autosómica recesiva tipo 15","Spanish_GARD_Synonym__c":"paraplejía espástica-degeneración retiniana; spg15; síndrome de kjellin","Category_Linearization__c":"ORPHA:98006","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding.","Curated_Disease_Description_Source__c":"MONDO:0010044","GARD_Synonym__c":"autosomal recessive complex spastic paraplegia caused by mutation in zfyve26; autosomal recessive spastic paraplegia 15; autosomal recessive spastic paraplegia type 15; hereditary spastic paraparesis type 15; hereditary spastic paraplegia type 15; kjellin syndrome; spastic paraplegia 15, autosomal recessive; spastic paraplegia and retinal degeneration; spastic paraplegia-retinal degeneration syndrome; spastic paraplegia, retinal degeneration syndrome; spg15; zfyve26 autosomal recessive complex spastic paraplegia","Name":"Hereditary spastic paraplegia 15","Curated_USA_Estimate__c":"1,000","estimateUsa":"1,000"}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Spastic Paraplegia Foundation","Website__c":"https://sp-foundation.org/"},{"Account_Name__c":"Childhood Dementia Initiative","Website__c":"https://www.childhooddementia.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":"Hereditary Spastic Paraplegia","Tag_Category__c":"Account","curated_tag_name":"Hereditary spastic paraplegia"},{"Tag_Name__c":"Retinal","Tag_Category__c":"Account;Specialist","curated_tag_name":"Retinal disorders"},{"Tag_Name__c":"Neurodevelopmental disabilities","Tag_Category__c":"Specialist","curated_tag_name":"Neurodevelopmental disabilities"},{"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":"Adolescent","Provided_By__c":"ORPHA:100996"},{"Age_At_Onset__c":"Childhood","Provided_By__c":"ORPHA:100996"},{"Age_At_Onset__c":"Adult","Provided_By__c":"ORPHA:100996"}],"Diagnosis__c":[{"Type__c":"GTR","Curie__c":"MEDGEN:C1849128"}],"External_Identifier_Disease__c":[{"URL__c":"https://raresource.nih.gov/diseases/filter/0009581","Source__c":"RareSource"},{"URL__c":"https://www.ncbi.nlm.nih.gov/books/NBK570772","Source__c":"Gene Review","Xref__c":"NBK570772"},{"URL__c":"https://www.orpha.net/en/disease/detail/100996","Source__c":"C1849128; MONDO:0010044; ORPHA:100996","Xref__c":"ORPHA:100996"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C1849128","Source__c":"C1849128","Xref__c":"C1849128"},{"URL__c":"https://www.ebi.ac.uk/ols4/ontologies/doid/classes?obo_id=DOID%3A0110768","Source__c":"MONDO:0010044","Xref__c":"DOID:0110768"},{"URL__c":"https://www.ncbi.nlm.nih.gov/mesh/C536642","Source__c":"MONDO:0010044","Xref__c":"C536642"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=709417000","Source__c":"MONDO:0010044","Xref__c":"709417000"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=341387","Source__c":"C1849128","Xref__c":"MEDGEN:341387"},{"URL__c":"https://www.omim.org/entry/270700","Source__c":"C1849128; MONDO:0010044; ORPHA:100996","Xref__c":"OMIM:270700"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=764686003","Source__c":"C1849128","Xref__c":"764686003"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0010044","Source__c":"GARD:0009581","Xref__c":"MONDO:0010044"},{"URL__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15"},{"URL__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15","Source__c":"GARD:0009581","Xref__c":"https://medlineplus.gov/genetics/condition/spastic-paraplegia-type-15"}],"GARD_Disease_Gene__c":[{"GeneSymbol__c":"ZFYVE26","GHR_URL__c":"https://medlineplus.gov/genetics/gene/zfyve26","Gene_Type__c":"protein-coding gene","Causal_Gene__c":true}],"Inheritance__c":["Autosomal recessive"],"GARD_Disease_Feature__c":[{"Provided_By__c":"ORPHA:100996","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:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0006986","HPO_Synonym__c":"Spastic upper extremities; Spastic upper extremity; Spastic upper limb; Spastic upper limbs; Spasticity in upper extremities; Spasticity in upper extremity; Spasticity in upper limb; Spasticity in upper limbs; Spasticity of upper extremities; Spasticity of upper extremity; Spasticity of upper limb; Spasticity of upper limbs; Uncontrollable movement in upper arms; Upper extremities spasticity; Upper extremity spasticity","HPO_Name__c":"Upper limb spasticity","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Any structural abnormality of the cerebellum.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001317","HPO_Synonym__c":"Abnormality of the cerebellum; Cerebellar abnormalities; Cerebellar abnormality; Cerebellar anomaly; Cerebellar signs","HPO_Name__c":"Abnormal cerebellum morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Muscular atrophy affecting muscles in the distal portions of the extremities.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003693","HPO_Synonym__c":"Amyotrophy of distal limb muscles; Distal amyotrophy, especially of the hands and feet; Distal limb muscle atrophy; Distal muscle atrophy; Distal muscle atrophy, upper and lower limbs; Distal muscle degeneration; Distal muscle wasting; Distal muscular atrophy; Muscle atrophy, distal","HPO_Name__c":"Distal amyotrophy","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"A neurological condition related to lesions of the basal ganglia leading to typical abnormalities including akinesia (inability to initiate changes in activity and perform volitional movements rapidly and easily), muscular rigidity (continuous contraction of muscles with constant resistance to passive movement), chorea (widespread arrhythmic movements of a forcible, rapid, jerky, and restless nature), athetosis (inability to sustain the muscles of the fingers, toes, or other group of muscles in a fixed position), and akathisia (inability to remain motionless).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002071","HPO_Synonym__c":"Extrapyramidal dysfunction; Extrapyramidal signs; Extrapyramidal symptoms; Extrapyramidal syndrome; Extrapyramidal tract signs","HPO_Name__c":"Abnormality of extrapyramidal motor function","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","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:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Areas of brighter than expected signal on magnetic resonance imaging emanating from locations distant from the ventricular system.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030892","HPO_Synonym__c":"DWMH","HPO_Name__c":"Deep cerebral white matter hyperintensities","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Imaging_MRI"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","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:100996","HPO_Frequency__c":"Frequent (30-79%)","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:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An unintentional, oscillating to-and-fro muscle movement affecting the hand.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002378","HPO_Synonym__c":"Hand tremor; Tremor of hand; Tremor of hands; tremors in hands","HPO_Name__c":"Hand tremor","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Presence of multiple yellowish-white lesions of various size and configuration on the retina not related to vascular lesions.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0012045","HPO_Name__c":"Retinal flecks","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality of tracking eye movements in which smooth pursuit is interrupted by an abnormally high number of saccadic movements.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001152","HPO_Synonym__c":"Saccadic pursuit movements; Saccadic slow pursuit; Saccadic smooth pursuit","HPO_Name__c":"Saccadic smooth pursuit interruptions","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysarthric speech is a general description referring to a neurological speech disorder characterized by poor articulation. Depending on the involved neurological structures, dysarthria may be further classified as spastic, flaccid, ataxic, hyperkinetic and hypokinetic, or mixed.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001260","HPO_Synonym__c":"Difficulty articulating speech; Dysarthric speech","HPO_Name__c":"Dysarthria","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Demyelinating neuropathy is characterized by slow nerve conduction velocities with reduced amplitudes of sensory/motor nerve conduction and prolonged distal latencies.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0007108","HPO_Name__c":"Demyelinating peripheral neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"Atypical behavior is an abnormality in a person's actions that can be controlled or modulated by the will of the individual. While abnormal behaviors can be difficult to control, they are distinct from other abnormal actions that cannot be affected by the individual's will.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000708","HPO_Synonym__c":"Behavioral abnormality; Behavioral changes; Behavioral disorders; Behavioral disturbances; Behavioral problems; Behavioral symptoms; Behavioral/psychiatric abnormalities; Behavioural symptoms; Behavioural/Psychiatric abnormality; Psychiatric disorders; Psychiatric disturbances","HPO_Name__c":"Atypical behavior","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","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:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Dysfunction of the urinary bladder.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000009","HPO_Synonym__c":"Poor bladder function","HPO_Name__c":"Functional abnormality of the bladder","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An area anywhere within the retina showing pale yellow or white discoloration. Such lesions can be flat or raised and there size can range from very small to big.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0030506","HPO_Synonym__c":"Yellow/white lesions of the retina","HPO_Name__c":"Yellow/white retinal lesion","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Increased intensity of the a reflex in the leg.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002395","HPO_Synonym__c":"Brisk lower extremity reflexes; Hyperreflexia in lower limbs; Hyperreflexia in the lower limbs; Increased deep tendon reflexes in the lower limbs; Leg hyperreflexia; Overactive lower leg reflex","HPO_Name__c":"Lower limb hyperreflexia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the cerebral white matter.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002500","HPO_Synonym__c":"Abnormality of subcortical white matter; Abnormality of the cerebral white matter; Cerebral white matter abnormalities; Leukoaraiosis; White matter abnormalities; White matter alterations","HPO_Name__c":"Abnormal cerebral white matter morphology","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality characterized by disruption of the normal functioning of peripheral axons.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003477","HPO_Synonym__c":"Axonal neuropathy; Axonal peripheral neuropathy","HPO_Name__c":"Peripheral axonal neuropathy","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Very frequent (80-99%)","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:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Reduced strength of muscles.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001324","HPO_Synonym__c":"Muscle weakness; Muscular weakness","HPO_Name__c":"Muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","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:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Weakness of the muscles of the arms.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0003484","HPO_Synonym__c":"Decreased arm strength; Weak arm","HPO_Name__c":"Upper limb muscle weakness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Complete loss of the ability to move the lower limbs accompanied by spasticity of the lower limbs.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001258","HPO_Synonym__c":"Spastic paraplegia, lower limb","HPO_Name__c":"Spastic paraplegia","Feature_System__c":"Nervous System; Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002495","HPO_Synonym__c":"Decreased vibration sense; Decreased vibratory sense; Diminished vibratory sense; Hypopallesthesia; Impaired vibratory sensation; Impaired vibratory sense","HPO_Name__c":"Impaired vibratory sensation","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A group of abnormalities characterized by hyperglycemia and glucose intolerance.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000819","HPO_Name__c":"Diabetes mellitus","Feature_System__c":"Endocrine System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"An abnormality of the retina characterized by pigment deposition. It is typically associated with migration and proliferation of macrophages or retinal pigment epithelial cells into the retina; melanin from these cells causes the pigmentary changes. Pigmentary retinopathy is a common final pathway of many retinal conditions and is often associated with visual loss.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000580","HPO_Synonym__c":"Pigmentary retinal deposits; Retinal pigment clumping; Retinal pigmentary clumping; Retinal pigmentary degeneration","HPO_Name__c":"Pigmentary retinopathy","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Description__c":"Abnormal cognition is characterized by deficits in thinking, reasoning, or remembering.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0100543","HPO_Synonym__c":"Abnormality of cognition; Cognitive abnormality; Cognitive defects; Cognitive deficits; Cognitive impairment; Intellectual impairment","HPO_Name__c":"Cognitive impairment","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","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:100996","HPO_Frequency__c":"Frequent (30-79%)","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:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A dementia associated with degeneration of the frontotemporal lobe and clinically associated with personality and behavioral changes such as disinhibition, apathy, and lack of insight. The hallmark feature of frontotemporal dementia is the presentation with focal syndromes such as progressive language dysfunction, or aphasia, or behavioral changes characteristic of frontal lobe disorders.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0002145","HPO_Name__c":"Frontotemporal dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An abnormality in voluntary or involuntary eye movements or their control.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000496","HPO_Synonym__c":"Abnormal extraocular movement; Abnormal extraocular movements; Abnormal eye motility; Abnormal eye movement; Abnormal eye movements; Abnormal motility of the globe of the eye; Abnormal movement of the globe of the eye; Abnormal ocular movements; Abnormality of eye movement; Eye movement abnormalities; Eye movement issue; Ocular movement abnormalities; Oculomotor abnormalities","HPO_Name__c":"Abnormality of eye movement","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","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:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"A loss of global cognitive ability of sufficient amount to interfere with normal social or occupational function. Dementia represents a loss of previously present cognitive abilities, generally in adults, and can affect memory, thinking, language, judgment, and behavior.","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0000726","HPO_Synonym__c":"Dementia; Dementia, progressive; Progressive dementia","HPO_Name__c":"Dementia","Feature_System__c":"Nervous System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Frequent (30-79%)","Feature__r":{"HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0008969","HPO_Name__c":"Leg muscle stiffness","Feature_System__c":"Musculoskeletal System","HPO_Feature_Type__c":"Symptom"}},{"Provided_By__c":"ORPHA:100996","HPO_Frequency__c":"Occasional (5-29%)","Feature__r":{"HPO_Description__c":"An increase in height of the medial longitudinal arch of the foot that does not flatten on weight bearing (i.e., a distinctly hollow form of the sole of the foot when it is bearing weight).","HPO_Feature_URL__c":"https://hpo.jax.org/browse/term/HP:0001761","HPO_Synonym__c":"Cavus foot; High-arched foot","HPO_Name__c":"Pes cavus","HPO_Feature_Type__c":"Symptom"}}],"tags":{"Cause":["Genetics"],"Disease Category":["Genetics","Neurology"],"Specialist":["Genetics","Neurology","Ophthalmology","Retinal","Neurodevelopmental disabilities","Neuromuscular medicine","Pediatrics"],"Account":["Hereditary Spastic Paraplegia","Retinal"]},"synonyms":["autosomal recessive complex spastic paraplegia caused by mutation in zfyve26"," autosomal recessive spastic paraplegia 15"," autosomal recessive spastic paraplegia type 15"," hereditary spastic paraparesis type 15"," hereditary spastic paraplegia type 15"," kjellin syndrome"," spastic paraplegia 15, autosomal recessive"," spastic paraplegia and retinal degeneration"," spastic paraplegia-retinal degeneration syndrome"," spastic paraplegia, retinal degeneration syndrome"," spg15"," zfyve26 autosomal recessive complex spastic paraplegia"]}