TaoMedAI/RareMedData huggingface dataset:
Gene: CHCHD10
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Restrictive ventilatory defect (HP:0002091)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Muscle spasm (HP:0003394)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Progressive cerebellar ataxia (HP:0002073)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Mildly elevated creatine kinase (HP:0008180)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Babinski sign (HP:0003487)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Increased circulating lactate concentration (HP:0002151)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Cold-induced muscle cramps (HP:0003449)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Decreased activity of mitochondrial complex III (HP:0011924)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Apraxia (HP:0002186)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Gliosis (HP:0002171)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Weakness due to upper motor neuron dysfunction (HP:0010549)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Middle age onset (HP:0003596)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Tetraparesis (HP:0002273)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Late onset (HP:0003584)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Exercise intolerance (HP:0003546)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Global brain atrophy (HP:0002283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Decreased activity of mitochondrial complex IV (HP:0008347)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Abnormal mitochondrial morphology (HP:0008322)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Facial palsy (HP:0010628)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Decreased activity of mitochondrial complex II (HP:0008314)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Paraparesis (HP:0002385)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Fasciculations (HP:0002380)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Fasciculations (HP:0002380)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Fasciculations (HP:0002380)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Progressive (HP:0003676)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Slowly progressive (HP:0003677)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Slowly progressive (HP:0003677)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Mutism (HP:0002300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Neuronal loss in the cerebral cortex (HP:0007190)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Impaired distal vibration sensation (HP:0006886)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Supranuclear gaze palsy (HP:0000605)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Distal lower limb muscle weakness (HP:0009053)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Short stature (HP:0004322)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Short stature (HP:0004322)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Gastrocnemius myalgia (HP:0031921)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Hallucinations (HP:0000738)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Disinhibition (HP:0000734)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Apathy (HP:0000741)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Depression (HP:0000716)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Childhood onset (HP:0011463)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Increased mitochondrial number (HP:0040014)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Abnormal sensory nerve conduction velocity (HP:0040132)
Associated disease: Spinal muscular atrophy, Jokela type; SMAJ; Lower motor neuron syndrome with late-adult onset; LOSMoN; Late-onset spinal motor neuronopathy (ORPHA:276435)
Gene: CHCHD10
Phenotype: Increased intramyocellular lipid droplets (HP:0012240)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Weakness of facial musculature (HP:0030319)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Perseverative thought (HP:0030223)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Pes planus (HP:0001763)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Hammertoe (HP:0001765)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Late young adult onset (HP:0025710)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Pes cavus (HP:0001761)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Ptosis (HP:0000508)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Ptosis (HP:0000508)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: FSIP2
Phenotype: Absent sperm axoneme central pair complex (HP:0033525)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Absent sperm flagella (HP:0032558)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Short sperm flagella (HP:0032559)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Coiled sperm flagella (HP:0032560)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Irregularly shaped sperm tail (HP:0033393)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Young adult onset (HP:0011462)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Male infertility (HP:0003251)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: FSIP2
Phenotype: Reduced sperm motility (HP:0012207)
Associated disease: SPERMATOGENIC FAILURE 34 (OMIM:618153)
Gene: DTHD1
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: DTHD1
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: AMTN
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIB (OMIM:617607)
Gene: AMTN
Phenotype: Enamel hypomineralization (HP:0006285)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIB (OMIM:617607)
Gene: AMTN
Phenotype: Infantile onset (HP:0003593)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIB (OMIM:617607)
Gene: AMTN
Phenotype: Amelogenesis imperfecta (HP:0000705)
Associated disease: AMELOGENESIS IMPERFECTA, TYPE IIIB (OMIM:617607)
Gene: SAMD12
Phenotype: EEG with photoparoxysmal response (HP:0010852)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Intellectual disability (HP:0001249)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Focal-onset seizure (HP:0007359)
Associated disease: ADCME; Benign adult familial myoclonic epilepsy; BAFME; Autosomal dominant cortical myoclonus and epilepsy; FAME; Familial cortical myoclonic tremor and epilepsy; FCMTE; Benign adult familial myoclonus epilepsy; Familial adult myoclonic epilepsy (ORPHA:86814)
Gene: SAMD12
Phenotype: Jerk-locked premyoclonus spikes (HP:0001351)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: EEG with irregular generalized spike and wave complexes (HP:0001326)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)
Gene: SAMD12
Phenotype: Enhancement of the C-reflex (HP:0001340)
Associated disease: EPILEPSY, FAMILIAL ADULT MYOCLONIC, 1 (OMIM:601068)