TaoMedAI/RareMedData huggingface dataset:
Gene: NEFH
Phenotype: Dysphagia (HP:0002015)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Dyspnea (HP:0002094)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Muscle spasm (HP:0003394)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Steppage gait (HP:0003376)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Frontotemporal dementia (HP:0002145)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Paralysis (HP:0003470)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Babinski sign (HP:0003487)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: EMG: neuropathic changes (HP:0003445)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Neurodegeneration (HP:0002180)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Sleep apnea (HP:0010535)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Adult onset (HP:0003581)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Muscle fiber splitting (HP:0003555)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Pseudobulbar paralysis (HP:0007024)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Fasciculations (HP:0002380)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Fasciculations (HP:0002380)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Degeneration of anterior horn cells (HP:0002398)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Sleep abnormality (HP:0002360)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Progressive (HP:0003676)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Spastic paraparesis (HP:0002313)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Degeneration of the lateral corticospinal tracts (HP:0002314)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Drooling (HP:0002307)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Foot dorsiflexor weakness (HP:0009027)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Cachexia (HP:0004326)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Hoffmann sign (HP:0031993)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Anxiety (HP:0000739)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Depression (HP:0000716)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Emotional lability (HP:0000712)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Orthopnea (HP:0012764)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Upper limb amyotrophy (HP:0009129)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Myopathy (HP:0003198)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Elevated circulating creatine kinase concentration (HP:0003236)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Abnormality on pulmonary function testing (HP:0030878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: AMYOTROPHIC LATERAL SCLEROSIS 1 (OMIM:105400)
Gene: NEFH
Phenotype: Ragged-red muscle fibers (HP:0003200)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Xerostomia (HP:0000217)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Respiratory failure (HP:0002878)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Fatigue (HP:0012378)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Distal sensory impairment (HP:0002936)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Dysphonia (HP:0001618)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Fatigable weakness of respiratory muscles (HP:0030196)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Fatigable weakness of swallowing muscles (HP:0030195)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Fatigable weakness of bulbar muscles (HP:0030192)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Tongue atrophy (HP:0012473)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Pes cavus (HP:0001761)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2CC (OMIM:616924)
Gene: NEFH
Phenotype: Weight loss (HP:0001824)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFH
Phenotype: Pain (HP:0012531)
Associated disease: Lou Gehrig disease; Charcot disease; ALS; Amyotrophic lateral sclerosis (ORPHA:803)
Gene: NEFL
Phenotype: Ulnar claw (HP:0001178)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Split hand (HP:0001171)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Nemaline bodies (HP:0003798)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Mixed demyelinating and axonal polyneuropathy (HP:0007327)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Cervical spinal cord atrophy (HP:0010873)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Decreased distal sensory nerve action potential (HP:0007230)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Clusters of axonal regeneration (HP:0007233)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Demyelinating motor neuropathy (HP:0007220)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Motor delay (HP:0001270)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Motor delay (HP:0001270)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Motor delay (HP:0001270)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Areflexia (HP:0001284)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Hypotonia (HP:0001252)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Ataxia (HP:0001251)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Dysarthria (HP:0001260)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Global developmental delay (HP:0001263)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Spasticity (HP:0001257)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Lower limb muscle weakness (HP:0007340)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Inability to walk (HP:0002540)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Inability to walk (HP:0002540)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Waddling gait (HP:0002515)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Falls (HP:0002527)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Tremor (HP:0001337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Scoliosis (HP:0002650)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Proximal muscle weakness in lower limbs (HP:0008994)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Proximal muscle weakness in upper limbs (HP:0008997)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal upper limb muscle weakness (HP:0008959)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Proximal lower limb amyotrophy (HP:0008956)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Dysphagia (HP:0002015)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Cognitive impairment (HP:0100543)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Gowers sign (HP:0003391)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Limb ataxia (HP:0002070)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Steppage gait (HP:0003376)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Steppage gait (HP:0003376)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Upper limb muscle weakness (HP:0003484)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Segmental peripheral demyelination/remyelination (HP:0003481)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Paresthesia (HP:0003401)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Middle age onset (HP:0003596)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Decreased/absent ankle reflexes (HP:0200101)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Facial palsy (HP:0010628)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Fasciculations (HP:0002380)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)
Gene: NEFL
Phenotype: Scapular winging (HP:0003691)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Frequent falls (HP:0002359)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Hand tremor (HP:0002378)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Head tremor (HP:0002346)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Unsteady gait (HP:0002317)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Impaired proprioception (HP:0010831)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CMT2E; Autosomal dominant Charcot-Marie-Tooth disease type 2E (ORPHA:99939)
Gene: NEFL
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Sensorimotor neuropathy (HP:0007141)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Distal upper limb amyotrophy (HP:0007149)
Associated disease: Charcot-Marie-Tooth disease type 1F; CMT1F (ORPHA:101085)
Gene: NEFL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2E (OMIM:607684)
Gene: NEFL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G (OMIM:617882)
Gene: NEFL
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, DEMYELINATING, TYPE 1F (OMIM:607734)