TaoMedAI/RareMedData huggingface dataset:
Gene: MYT1L
Phenotype: Generalized non-motor (absence) seizure (HP:0002121)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Sleep apnea (HP:0010535)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Exaggerated cupid's bow (HP:0002263)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Impulsivity (HP:0100710)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Tachyphagia (HP:6000352)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Abnormal eating behavior (HP:0100738)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Focal impaired awareness seizure (HP:0002384)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: EEG abnormality (HP:0002353)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Maternal diabetes (HP:0009800)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Nystagmus (HP:0000639)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Neonatal hypoglycemia (HP:0001998)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Short stature (HP:0004322)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Hyperlipidemia (HP:0003077)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Anxiety (HP:0000739)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Self-mutilation (HP:0000742)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Childhood onset (HP:0011463)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Congenital diaphragmatic hernia (HP:0000776)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Increased circulating cortisol level (HP:0003118)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Hashimoto thyroiditis (HP:0000872)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Wide nasal base (HP:0012810)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Reduced eye contact (HP:0000817)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Hypothyroidism (HP:0000821)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Maternal hypertension (HP:0008071)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Full cheeks (HP:0000293)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Macrocephaly (HP:0000256)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Hydrocephalus (HP:0000238)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Microcephaly (HP:0000252)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Overweight (HP:0025502)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Failure to thrive (HP:0001508)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Obesity (HP:0001513)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Obesity (HP:0001513)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Fatigue (HP:0012378)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Almond-shaped palpebral fissure (HP:0007874)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Abnormal blood glucose concentration (HP:0011015)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Premature birth (HP:0001622)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Astigmatism (HP:0000483)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Strabismus (HP:0000486)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Strabismus (HP:0000486)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Deeply set eye (HP:0000490)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Bilateral talipes equinovarus (HP:0001776)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Bulbous nose (HP:0000414)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Wide nasal bridge (HP:0000431)
Associated disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 39 (OMIM:616521)
Gene: MYT1L
Phenotype: Hypermetropia (HP:0000540)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: MYT1L
Phenotype: Myopia (HP:0000545)
Associated disease: MYT1L-associated neurodevelopmental disorder; MYT1L-related developmental delay-intellectual disability-obesity syndrome (ORPHA:647799)
Gene: TNIK
Phenotype: Intellectual disability (HP:0001249)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Infantile onset (HP:0003593)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: TNIK
Phenotype: Emotional lability (HP:0000712)
Associated disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 54 (OMIM:617028)
Gene: CLUAP1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: CLUAP1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: SETX
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Saccadic smooth pursuit (HP:0001152)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Chronic axonal neuropathy (HP:0007267)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Progressive gait ataxia (HP:0007240)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Polyneuropathy (HP:0001271)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Gait disturbance (HP:0001288)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Gait disturbance (HP:0001288)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Areflexia (HP:0001284)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Ataxia (HP:0001251)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Choreoathetosis (HP:0001266)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Dysarthria (HP:0001260)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Spastic paraplegia (HP:0001258)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Dystonia (HP:0001332)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Dystonia (HP:0001332)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Tremor (HP:0001337)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Scoliosis (HP:0002650)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Dysphagia (HP:0002015)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Dysphagia (HP:0002015)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Chorea (HP:0002072)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Limb ataxia (HP:0002070)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Gait imbalance (HP:0002141)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Babinski sign (HP:0003487)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Babinski sign (HP:0003487)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Babinski sign (HP:0003487)
Associated disease: ALS4; Distal hereditary motor neuropathy with upper motor neuron signs; dHMN with upper motor neuron signs; Amyotrophic lateral sclerosis type 4 (ORPHA:357043)
Gene: SETX
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Diffuse axonal swelling (HP:0003405)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Clonus (HP:0002169)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Postural tremor (HP:0002174)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Muscle fibrillation (HP:0010546)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Increased circulating immunoglobulin concentration (HP:0010702)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Decreased compound muscle action potential amplitude (HP:0033383)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 4, JUVENILE (OMIM:602433)
Gene: SETX
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Progressive (HP:0003676)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)
Gene: SETX
Phenotype: Head tremor (HP:0002346)
Associated disease: SCAR1; SCAN 2; Spinocerebellar ataxia with axonal neuropathy type 2; AOA2; Ataxia-oculomotor apraxia type 2 (ORPHA:64753)
Gene: SETX
Phenotype: Head tremor (HP:0002346)
Associated disease: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE, WITH AXONAL NEUROPATHY 2 (OMIM:606002)