TaoMedAI/RareMedData huggingface dataset:
Gene: GDF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Hearing impairment (HP:0000365)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Facial asymmetry (HP:0000324)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Cervicomedullary schisis (HP:0030325)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: Symphalangism-brachydactyly syndrome; WL syndrome; Deafness-Hermann type symphalangism syndrome; Multiple synostoses syndrome; Facio-audio-symphalangism; Hearing loss-Hermann type symphalangism syndrome (ORPHA:3237)
Gene: GDF6
Phenotype: Conductive hearing impairment (HP:0000405)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Slow pupillary light response (HP:0030211)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Short neck (HP:0000470)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Short neck (HP:0000470)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Limited neck range of motion (HP:0000466)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Webbed neck (HP:0000465)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Webbed neck (HP:0000465)
Associated disease: Congenital fused cervical segments; Klippel-Feil sequence; Congenital cervical vertebral fusion; Klippel-Feil malformation; Isolated Klippel-Feil syndrome (ORPHA:2345)
Gene: GDF6
Phenotype: Optic disc drusen (HP:0012426)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Broad foot (HP:0001769)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Pes planus (HP:0001763)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Mixed hearing impairment (HP:0000410)
Associated disease: KLIPPEL-FEIL SYNDROME 1, AUTOSOMAL DOMINANT (OMIM:118100)
Gene: GDF6
Phenotype: Cataract (HP:0000518)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Overlapping toe (HP:0001845)
Associated disease: MULTIPLE SYNOSTOSES SYNDROME 4 (OMIM:617898)
Gene: GDF6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Visual impairment (HP:0000505)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Gene: GDF6
Phenotype: Coloboma (HP:0000589)
Associated disease: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 6 (OMIM:613703)
Gene: GDF6
Phenotype: Keratoconus (HP:0000563)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Microphthalmia (HP:0000568)
Associated disease: MICROPHTHALMIA, ISOLATED 4 (OMIM:613094)
Gene: GDF6
Phenotype: Hypermetropia (HP:0000540)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: GDF6
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: GDF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: Leber congenital amaurosis; Amaurosis congenita of Leber (ORPHA:65)
Gene: GDF6
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: GDF6
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MED11
Phenotype: Cerebellar atrophy (HP:0001272)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Global developmental delay (HP:0001263)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Dysgyria (HP:0032398)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Limb hypertonia (HP:0002509)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Tremor (HP:0001337)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Cerebellar hypoplasia (HP:0001321)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Hydronephrosis (HP:0000126)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Exaggerated startle response (HP:0002267)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Congenital onset (HP:0003577)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Inferior cerebellar vermis hypoplasia (HP:0007068)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Fasciculations (HP:0002380)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Nystagmus (HP:0000639)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Limb joint contracture (HP:0003121)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Respiratory failure (HP:0002878)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Hearing impairment (HP:0000365)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Myoclonic seizure (HP:0032794)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Patent ductus arteriosus (HP:0001643)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Patent foramen ovale (HP:0001655)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Atrial septal defect (HP:0001631)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Strabismus (HP:0000486)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Brain atrophy (HP:0012444)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: MED11
Phenotype: Cataract (HP:0000518)
Associated disease: NEURODEGENERATION WITH DEVELOPMENTAL DELAY, EARLY RESPIRATORY FAILURE, MYOCLONIC SEIZURES, AND BRAIN ABNORMALITIES (OMIM:620327)
Gene: CHCHD10
Phenotype: Bulbar signs (HP:0002483)
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: Upper motor neuron dysfunction (HP:0002493)
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: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Spinal muscular atrophy (HP:0007269)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Neck flexor weakness (HP:0003722)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Generalized amyotrophy (HP:0003700)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Exercise-induced muscle cramps (HP:0003710)
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: Gait disturbance (HP:0001288)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Gait disturbance (HP:0001288)
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: Bulbar palsy (HP:0001283)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Areflexia (HP:0001284)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Areflexia (HP:0001284)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Areflexia (HP:0001284)
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: Ataxia (HP:0001251)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Hyporeflexia (HP:0001265)
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: Dysarthria (HP:0001260)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Inability to walk (HP:0002540)
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: Rimmed vacuoles (HP:0003805)
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: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Muscle weakness (HP:0001324)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Neurogenic bladder (HP:0000011)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Tremor (HP:0001337)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Tremor (HP:0001337)
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: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Tongue fasciculations (HP:0001308)
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: Parkinsonism (HP:0001300)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT (OMIM:616209)
Gene: CHCHD10
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
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: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Autosomal dominant mitochondrial myopathy with exercise intolerance (ORPHA:457050)
Gene: CHCHD10
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
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: Calf muscle hypertrophy (HP:0008981)
Associated disease: SPINAL MUSCULAR ATROPHY, JOKELA TYPE (OMIM:615048)
Gene: CHCHD10
Phenotype: Increased intramuscular fat (HP:0008985)
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: Intrinsic hand muscle atrophy (HP:0008954)
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: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Dysphagia (HP:0002015)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)
Gene: CHCHD10
Phenotype: Dysphagia (HP:0002015)
Associated disease: Frontotemporal dementia with amyotrophic lateral sclerosis; FTD-ALS; FTD-MND; Frontotemporal dementia with motor neuron disease (ORPHA:275872)
Gene: CHCHD10
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Dysphagia (HP:0002015)
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: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHCHD10
Phenotype: Abnormality of the respiratory system (HP:0002086)
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: Cognitive impairment (HP:0100543)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2 (OMIM:615911)