TaoMedAI/RareMedData huggingface dataset:
Gene: SPR
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Abnormal circulating neopterin concentration (HP:0040206)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Abnormal circulating biopterin concentration (HP:0040210)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Small for gestational age (HP:0001518)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Growth delay (HP:0001510)
Associated disease: DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY (OMIM:612716)
Gene: SPR
Phenotype: Growth delay (HP:0001510)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Abnormality of the nose (HP:0000366)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Hypomimic face (HP:0000338)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPR
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Ptosis (HP:0000508)
Associated disease: SPR deficiency; DRD due to SRD; Autosomal recessive sepiapterin reductase-deficient DRD; Sepiapterin reductase deficiency; Dopa-responsive dystonia due to sepiapterin reductase deficiency (ORPHA:70594)
Gene: SPR
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: SPR
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: SPTA1
Phenotype: Chills (HP:0025143)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Chills (HP:0025143)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPHEROCYTOSIS, TYPE 3 (OMIM:270970)
Gene: SPTA1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Gene: SPTA1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Gene: SPTA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Pyropoikilocytosis (HP:0004839)
Associated disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Gene: SPTA1
Phenotype: Microspherocytosis (HP:0004835)
Associated disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Gene: SPTA1
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Fever (HP:0001945)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Gene: SPTA1
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Gout (HP:0001997)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Gene: SPTA1
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Gene: SPTA1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Spherocytosis (HP:0004444)
Associated disease: SPHEROCYTOSIS, TYPE 3 (OMIM:270970)
Gene: SPTA1
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Gene: SPTA1
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Jaundice (HP:0000952)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Fatigue (HP:0012378)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: ELLIPTOCYTOSIS 2 (OMIM:130600)
Gene: SPTA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: PYROPOIKILOCYTOSIS, HEREDITARY (OMIM:266140)
Gene: SPTA1
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SPHEROCYTOSIS, TYPE 3 (OMIM:270970)
Gene: SPTA1
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTAN1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Optic neuropathy (HP:0001138)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Long fingers (HP:0100807)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Motor delay (HP:0001270)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Gait disturbance (HP:0001288)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Seizure (HP:0001250)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Ataxia (HP:0001251)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Atrophy/Degeneration affecting the brainstem (HP:0007366)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Tall stature (HP:0000098)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Areflexia of upper limbs (HP:0012046)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: EEG with frontal focal spikes (HP:0012015)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Dystonia (HP:0001332)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Myoclonus (HP:0001336)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Myoclonus (HP:0001336)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Hypoesthesia (HP:0033748)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Hyporeflexia of lower limbs (HP:0002600)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Narrow palate (HP:0000189)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Asthenia (HP:0025406)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Spastic gait (HP:0002064)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Spastic gait (HP:0002064)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Steppage gait (HP:0003376)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)