TaoMedAI/RareMedData huggingface dataset:
Gene: KIAA1549
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Nummular pigmentation of the fundus (HP:0030505)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Nystagmus (HP:0000639)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Blindness (HP:0000618)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Photophobia (HP:0000613)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Ophthalmoplegia (HP:0000602)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Abnormal full-field electroretinogram (HP:0030466)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Abnormal central response of multifocal electroretinogram (HP:0030488)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Photoreceptor outer segment loss on macular OCT (HP:0030610)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Cortical cataract (HP:0100019)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Photopsia (HP:0030786)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Cystoid macular edema (HP:0011505)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Hyperinsulinemia (HP:0000842)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Abnormal retinal vascular morphology (HP:0008046)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Retinal pigment epithelial atrophy (HP:0007722)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Posterior subcapsular cataract (HP:0007787)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Peripheral visual field loss (HP:0007994)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Progressive visual loss (HP:0000529)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Visual impairment (HP:0000505)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Glaucoma (HP:0000501)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Keratoconus (HP:0000563)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Color vision defect (HP:0000551)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Retinitis pigmentosa (ORPHA:791)
Gene: KIAA1549
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: KIAA1549
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 86 (OMIM:618613)
Gene: KIAA1549
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: RNF213
Phenotype: Seizure (HP:0001250)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: RNF213
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: RNF213
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MOYAMOYA DISEASE 2 (OMIM:607151)
Gene: RNF213
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MOYAMOYA DISEASE 2 (OMIM:607151)
Gene: RNF213
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: RNF213
Phenotype: Moyamoya phenomenon (HP:0011834)
Associated disease: MOYAMOYA DISEASE 2 (OMIM:607151)
Gene: RNF213
Phenotype: Telangiectasia (HP:0001009)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: RNF213
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: MOYAMOYA DISEASE 2 (OMIM:607151)
Gene: RNF213
Phenotype: Abnormal cerebral vascular morphology (HP:0100659)
Associated disease: Idiopathic Moyamoya disease; Moyamoya disease (ORPHA:2573)
Gene: ALS2
Phenotype: Bulbar signs (HP:0002483)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Abnormal corticospinal tract morphology (HP:0002492)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Spasticity of facial muscles (HP:0002491)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Spasticity of facial muscles (HP:0002491)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Spastic dysarthria (HP:0002464)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Tetraplegia (HP:0002445)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Generalized dystonia (HP:0007325)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Anarthria (HP:0002425)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Anarthria (HP:0002425)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Anarthria (HP:0002425)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Anarthria (HP:0002425)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Hypertonia (HP:0001276)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Motor delay (HP:0001270)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Head titubation (HP:0002599)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Head titubation (HP:0002599)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Spastic tetraparesis (HP:0001285)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Ataxia (HP:0001251)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Ataxia (HP:0001251)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic diplegia (HP:0001264)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Global developmental delay (HP:0001263)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Spasticity (HP:0001257)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Spasticity (HP:0001257)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Spasticity (HP:0001257)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Inability to walk (HP:0002540)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Retrocollis (HP:0002544)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Retrocollis (HP:0002544)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Axial dystonia (HP:0002530)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Spastic tetraplegia (HP:0002510)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Loss of ambulation (HP:0002505)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Spasticity of pharyngeal muscles (HP:0002501)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Spasticity of pharyngeal muscles (HP:0002501)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Oromandibular dystonia (HP:0012048)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Abnormality of the bladder (HP:0000014)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Dystonia (HP:0001332)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Dystonia (HP:0001332)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Abnormal exteroceptive sensation (HP:0033747)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Scoliosis (HP:0002650)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Abnormal cerebellum morphology (HP:0001317)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Parkinsonism (HP:0001300)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Tongue muscle weakness (HP:0000183)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Dysphagia (HP:0002015)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Spastic gait (HP:0002064)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Spastic gait (HP:0002064)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Spastic gait (HP:0002064)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Lower limb spasticity (HP:0002061)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Chorea (HP:0002072)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Gait imbalance (HP:0002141)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Babinski sign (HP:0003487)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: CNS hypomyelination (HP:0003429)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: IAHSP; Infantile-onset ascending hereditary spastic paralysis (ORPHA:293168)
Gene: ALS2
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)
Gene: ALS2
Phenotype: Pseudobulbar affect (HP:0002193)
Associated disease: JPLS; Juvenile PLS; Juvenile primary lateral sclerosis (ORPHA:247604)
Gene: ALS2
Phenotype: Clonus (HP:0002169)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Clonus (HP:0002169)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: JALS; Juvenile Lou Gehrig disease; Juvenile Charcot disease; Juvenile amyotrophic lateral sclerosis (ORPHA:300605)
Gene: ALS2
Phenotype: Opisthotonus (HP:0002179)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 2, JUVENILE (OMIM:205100)
Gene: ALS2
Phenotype: Infantile onset (HP:0003593)
Associated disease: SPASTIC PARALYSIS, INFANTILE-ONSET ASCENDING (OMIM:607225)
Gene: ALS2
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: PRIMARY LATERAL SCLEROSIS, JUVENILE (OMIM:606353)