TaoMedAI/RareMedData huggingface dataset:
Gene: SPTAN1
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Broad-based gait (HP:0002136)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Intellectual disability, profound (HP:0002187)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Dyslexia (HP:0010522)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Infantile onset (HP:0003593)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Epileptic encephalopathy (HP:0200134)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Motor axonal neuropathy (HP:0007002)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Hyperactive patellar reflex (HP:0007083)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: EEG with polyspike wave complexes (HP:0002392)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Frequent falls (HP:0002359)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Developmental regression (HP:0002376)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Febrile seizure (within the age range of 3 months to 6 years) (HP:0002373)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Unsteady gait (HP:0002317)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Multifocal epileptiform discharges (HP:0010841)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Atonic seizure (HP:0010819)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Paroxysmal dyskinesia (HP:0007166)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Clumsiness (HP:0002312)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Lower limb hypertonia (HP:0006895)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Nystagmus (HP:0000639)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Autistic behavior (HP:0000729)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Abnormality of the nervous system (HP:0000707)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Childhood onset (HP:0011463)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Reduced cerebral white matter volume (HP:0034295)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Claw hand deformity (HP:0034337)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Progressive microcephaly (HP:0000253)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 5 (OMIM:613477)
Gene: SPTAN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Microcephaly (HP:0000252)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: High palate (HP:0000218)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Hyporeflexia of upper limbs (HP:0012391)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Strabismus (HP:0000486)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Infantile spasms (HP:0012469)
Associated disease: DEVELOPMENTAL DELAY WITH OR WITHOUT EPILEPSY (OMIM:620540)
Gene: SPTAN1
Phenotype: Restless legs (HP:0012452)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Abnormal skin morphology (HP:0011121)
Associated disease:  (ORPHA:697160)
Gene: SPTAN1
Phenotype: Achilles tendon contracture (HP:0001771)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Pes planus (HP:0001763)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Hammertoe (HP:0001765)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTAN1
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPASTIC PARAPLEGIA 91, AUTOSOMAL DOMINANT, WITH OR WITHOUT CEREBELLAR ATAXIA (OMIM:620538)
Gene: SPTAN1
Phenotype: Hallux valgus (HP:0001822)
Associated disease: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL DOMINANT 11 (OMIM:620528)
Gene: SPTB
Phenotype: Chills (HP:0025143)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Chills (HP:0025143)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Ataxia (HP:0001251)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Muscle weakness (HP:0001324)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Abdominal pain (HP:0002027)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Myalgia (HP:0003326)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Frontal bossing (HP:0002007)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Hypofibrinogenemia (HP:0011900)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Chronic hemolytic anemia (HP:0004870)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Pyropoikilocytosis (HP:0004839)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Congenital hemolytic anemia (HP:0004804)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Intermittent jaundice (HP:0001046)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Decreased mean corpuscular volume (HP:0025066)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Skin ulcer (HP:0200042)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Cholelithiasis (HP:0001081)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Spontaneous hemolytic crises (HP:0005525)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Increased red cell osmotic fragility (HP:0005502)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Extramedullary hematopoiesis (HP:0001978)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Fever (HP:0001945)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Fever (HP:0001945)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Acanthocytosis (HP:0001927)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Reticulocytosis (HP:0001923)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Anemia (HP:0001903)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Gout (HP:0001997)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Stomatocytosis (HP:0004446)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Elliptocytosis (HP:0004445)
Associated disease: ELLIPTOCYTOSIS 3 (OMIM:617948)
Gene: SPTB
Phenotype: Spherocytosis (HP:0004444)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Spherocytosis (HP:0004444)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Poikilocytosis (HP:0004447)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Neonatal hyperbilirubinemia (HP:0003265)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Pallor (HP:0000980)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Jaundice (HP:0000952)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Jaundice (HP:0000952)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Jaundice (HP:0000952)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Maculopapular exanthema (HP:0040186)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Growth delay (HP:0001510)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Fatigue (HP:0012378)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Prolonged neonatal jaundice (HP:0006579)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Hyperbilirubinemia (HP:0002904)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Restrictive cardiomyopathy (HP:0001723)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: Hereditary spherocytosis; Minkowski-Chauffard disease (ORPHA:822)
Gene: SPTB
Phenotype: Splenomegaly (HP:0001744)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTB
Phenotype: Hemolytic anemia (HP:0001878)
Associated disease: SPHEROCYTOSIS, TYPE 2 (OMIM:616649)
Gene: SPTB
Phenotype: Abnormal erythrocyte morphology (HP:0001877)
Associated disease: HE; Hereditary elliptocytosis (ORPHA:288)
Gene: SPTBN1
Phenotype: Progressive spastic quadriplegia (HP:0002478)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Juvenile cataract (HP:0001118)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Clonic seizure (HP:0020221)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Delayed fine motor development (HP:0010862)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Tapered distal phalanges of finger (HP:0009884)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Leukodystrophy (HP:0002415)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bruxism (HP:0003763)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Nevus (HP:0003764)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypertonia (HP:0001276)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Motor delay (HP:0001270)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Head titubation (HP:0002599)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bursitis (HP:0025232)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Seizure (HP:0001250)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypotonia (HP:0001252)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Ataxia (HP:0001251)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Spasticity (HP:0001257)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Violent behavior (HP:0008760)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Repetitive compulsive behavior (HP:0008762)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Laryngeal cleft (HP:0008751)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypsarrhythmia (HP:0002521)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Falls (HP:0002527)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bitemporal hollowing (HP:0025386)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hepatic steatosis (HP:0001397)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Micropenis (HP:0000054)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Bifid scrotum (HP:0000048)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Hypospadias (HP:0000047)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Plagiocephaly (HP:0001357)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Dystonia (HP:0001332)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Breast mass (HP:0032408)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Absent speech (HP:0001344)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)
Gene: SPTBN1
Phenotype: Scoliosis (HP:0002650)
Associated disease: DEVELOPMENTAL DELAY, IMPAIRED SPEECH, AND BEHAVIORAL ABNORMALITIES (OMIM:619475)