TaoMedAI/RareMedData huggingface dataset:
Gene: NECAP1
Phenotype: Dyskinesia (HP:0100660)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Generalized tonic seizure (HP:0010818)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Optic atrophy (HP:0000648)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Hypodontia (HP:0000668)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Short stature (HP:0004322)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Involuntary movements (HP:0004305)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Profound global developmental delay (HP:0012736)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Autism (HP:0000717)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Abnormality of coordination (HP:0011443)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Decreased fetal movement (HP:0001558)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Failure to thrive (HP:0001508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: High forehead (HP:0000348)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Interictal epileptiform activity (HP:0011182)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Downslanted palpebral fissures (HP:0000494)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Brain atrophy (HP:0012444)
Associated disease: DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY 21 (OMIM:615833)
Gene: NECAP1
Phenotype: Abnormal myelination (HP:0012447)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Ptosis (HP:0000508)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Abnormality of vision (HP:0000504)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Abnormal involuntary eye movements (HP:0012547)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: NECAP1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Non-specific EOEE; Undetermined early-onset epileptic encephalopathy; Undetermined EOEE; Non-specific early-onset epileptic encephalopathy (ORPHA:442835)
Gene: CHMP2B
Phenotype: Upper motor neuron dysfunction (HP:0002493)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Poor speech (HP:0002465)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Language impairment (HP:0002463)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Dyscalculia (HP:0002442)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Dyscalculia (HP:0002442)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Astrocytosis (HP:0002446)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Astrocytosis (HP:0002446)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Expressive aphasia (HP:0002427)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Stroke (HP:0001297)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Mental deterioration (HP:0001268)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Dysarthria (HP:0001260)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Spasticity (HP:0001257)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Motor neuron atrophy (HP:0007373)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Amyotrophic lateral sclerosis (HP:0007354)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Neuronal loss in central nervous system (HP:0002529)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Abnormal cerebral white matter morphology (HP:0002500)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Jaw hyperreflexia (HP:0033683)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Dystonia (HP:0001332)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Myoclonus (HP:0001336)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Tongue fasciculations (HP:0001308)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Parkinsonism (HP:0001300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Laryngospasm (HP:0025425)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Progressive distal muscular atrophy (HP:0008955)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Dysphagia (HP:0002015)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Bilateral tonic-clonic seizure (HP:0002069)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Rigidity (HP:0002063)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Babinski sign (HP:0003487)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Apraxia (HP:0002186)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Neurofibrillary tangles (HP:0002185)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Echolalia (HP:0010529)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Dyslexia (HP:0010522)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Dyslexia (HP:0010522)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Dysgraphia (HP:0010526)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Alexia (HP:0010523)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Alexia (HP:0010523)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Middle age onset (HP:0003596)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Fasciculations (HP:0002380)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Aphasia (HP:0002381)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Aphasia (HP:0002381)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Aphasia (HP:0002381)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Abnormal lower motor neuron morphology (HP:0002366)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Loss of speech (HP:0002371)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Loss of speech (HP:0002371)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Memory impairment (HP:0002354)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Memory impairment (HP:0002354)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Memory impairment (HP:0002354)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Temporal cortical atrophy (HP:0007112)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Mutism (HP:0002300)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Mutism (HP:0002300)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Mutism (HP:0002300)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Orofacial dyskinesia (HP:0002310)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Frontotemporal cerebral atrophy (HP:0006892)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Abulia (HP:0012671)
Associated disease: Semantic variant PPA; Semantic primary progressive aphasia; Semantic dementia (ORPHA:100069)
Gene: CHMP2B
Phenotype: Abulia (HP:0012671)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Abnormal brain FDG positron emission tomography (HP:0012658)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Deficit in grammar (HP:0006977)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Brain neoplasm (HP:0030692)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Lack of insight (HP:0000757)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Lack of insight (HP:0000757)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Personality changes (HP:0000751)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Personality changes (HP:0000751)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Personality changes (HP:0000751)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Irritability (HP:0000737)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: CHMP2B
Phenotype: Anxiety (HP:0000739)
Associated disease: Progressive non-fluent aphasia; Non-fluent variant PPA; Agramatic variant of primary progressive aphasia; Agramatic variant of PPA (ORPHA:100070)
Gene: CHMP2B
Phenotype: Disinhibition (HP:0000734)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Disinhibition (HP:0000734)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Motor stereotypy (HP:0000733)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Apathy (HP:0000741)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Apathy (HP:0000741)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)
Gene: CHMP2B
Phenotype: Frontal release signs (HP:0000743)
Associated disease: FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 7 (OMIM:600795)
Gene: CHMP2B
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: Behavioral variant of frontotemporal dementia; bv-FTD (ORPHA:275864)