TaoMedAI/RareMedData huggingface dataset:
Gene: FAM20B
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Flat acetabular roof (HP:0003180)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Relative macrocephaly (HP:0004482)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Cortical thickening of long bone diaphyses (HP:0005791)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Delayed puberty (HP:0000823)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Short clavicles (HP:0000894)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Skeletal muscle atrophy (HP:0003202)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Single transverse palmar crease (HP:0000954)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Epicanthus (HP:0000286)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Coarse facial features (HP:0000280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Hip dislocation (HP:0002827)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Microcephaly (HP:0000252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Genu valgum (HP:0002857)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Slender build (HP:0001533)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Optic nerve compression (HP:0007807)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Flat face (HP:0012368)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Lumbar hyperlordosis (HP:0002938)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Hearing impairment (HP:0000365)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Long philtrum (HP:0000343)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Round face (HP:0000311)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Genu varum (HP:0002970)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Mandibular prognathia (HP:0000303)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Short neck (HP:0000470)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Broad foot (HP:0001769)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Pes planus (HP:0001763)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Metatarsus adductus (HP:0001840)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Proptosis (HP:0000520)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: FAM20B
Phenotype: Proptosis (HP:0000520)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Blue sclerae (HP:0000592)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Toe clinodactyly (HP:0001863)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: FAM20B
Phenotype: Lower limb pain (HP:0012514)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: NCAPD2
Phenotype: Absent speech (HP:0001344)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Congenital onset (HP:0003577)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Intellectual disability, moderate (HP:0002342)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Short stature (HP:0004322)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Autistic behavior (HP:0000729)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Primary microcephaly (HP:0011451)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Small for gestational age (HP:0001518)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: NCAPD2
Phenotype: Sloping forehead (HP:0000340)
Associated disease: MICROCEPHALY 21, PRIMARY, AUTOSOMAL RECESSIVE (OMIM:617983)
Gene: IQSEC1
Phenotype: Intellectual disability, severe (HP:0010864)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Motor delay (HP:0001270)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Seizure (HP:0001250)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Absent speech (HP:0001344)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Status epilepticus (HP:0002133)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Attention deficit hyperactivity disorder (HP:0007018)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Short stature (HP:0004322)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Microcephaly (HP:0000252)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: IQSEC1
Phenotype: Visual impairment (HP:0000505)
Associated disease: INTELLECTUAL DEVELOPMENTAL DISORDER WITH SHORT STATURE AND BEHAVIORAL ABNORMALITIES (OMIM:618687)
Gene: MFN2
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Impaired vibratory sensation (HP:0002495)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Distal muscle weakness (HP:0002460)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Impaired pain sensation (HP:0007328)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Mild neurosensory hearing impairment (HP:0008587)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Lower limb amyotrophy (HP:0007210)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Quadriceps muscle weakness (HP:0003731)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Positive Romberg sign (HP:0002403)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Hypertonia (HP:0001276)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Foot pain (HP:0025238)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Mental deterioration (HP:0001268)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Areflexia (HP:0001284)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Areflexia (HP:0001284)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Areflexia (HP:0001284)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Spasticity (HP:0001257)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Areflexia of lower limbs (HP:0002522)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Variable expressivity (HP:0003828)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Typified by incomplete penetrance (HP:0003829)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Flexion contracture (HP:0001371)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Joint stiffness (HP:0001387)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Hyperreflexia (HP:0001347)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Tremor (HP:0001337)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Scoliosis (HP:0002650)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Reduced tendon reflexes (HP:0001315)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Triceps weakness (HP:0031108)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Paresis of extensor muscles of the big toe (HP:0002601)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Macroglossia (HP:0000158)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MFN2
Phenotype: Distal lower limb amyotrophy (HP:0008944)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Respiratory insufficiency due to muscle weakness (HP:0002747)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Progressive muscle weakness (HP:0003323)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Muscle spasm (HP:0003394)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Sensory axonal neuropathy (HP:0003390)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Axonal degeneration/regeneration (HP:0003378)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Steppage gait (HP:0003376)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Steppage gait (HP:0003376)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Steppage gait (HP:0003376)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Decreased number of large peripheral myelinated nerve fibers (HP:0003387)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Onion bulb formation (HP:0003383)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Peripheral axonal atrophy (HP:0003384)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Decreased number of peripheral myelinated nerve fibers (HP:0003380)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Peripheral axonal neuropathy (HP:0003477)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Abnormal spinal cord morphology (HP:0002143)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Somatic sensory dysfunction (HP:0003474)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Babinski sign (HP:0003487)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Decreased sensory nerve conduction velocity (HP:0003448)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Decreased motor nerve conduction velocity (HP:0003431)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: EMG: chronic denervation signs (HP:0003444)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Absent Achilles reflex (HP:0003438)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Distal sensory impairment of all modalities (HP:0003409)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Delayed gross motor development (HP:0002194)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL RECESSIVE, TYPE 2A2B (OMIM:617087)
Gene: MFN2
Phenotype: Postural tremor (HP:0002174)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Paresthesia (HP:0003401)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Infantile onset (HP:0003593)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Difficulty climbing stairs (HP:0003551)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Increased variability in muscle fiber diameter (HP:0003557)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Poor fine motor coordination (HP:0007010)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Distal amyotrophy (HP:0003693)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Limb muscle weakness (HP:0003690)
Associated disease: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE VIA, WITH OPTIC ATROPHY (OMIM:601152)
Gene: MFN2
Phenotype: Frequent falls (HP:0002359)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Hand tremor (HP:0002378)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)
Gene: MFN2
Phenotype: Multiple lipomas (HP:0001012)
Associated disease: Familial benign cervical lipomatosis; Launois-Bensaude lipomatosis; Madelung disease; Multiple symmetric lipomatosis; Cephalothoracic lipodystrophy (ORPHA:2398)
Gene: MFN2
Phenotype: Slowly progressive (HP:0003677)
Associated disease: CHARCOT-MARIE-TOOTH DISEASE, AXONAL, AUTOSOMAL DOMINANT, TYPE 2A2A (OMIM:609260)
Gene: MFN2
Phenotype: Impaired temperature sensation (HP:0010829)
Associated disease: Autosomal dominant Charcot-Marie-Tooth disease type 2A2; CMT2A2 (ORPHA:99947)
Gene: MFN2
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: LIPOMATOSIS, MULTIPLE SYMMETRIC, WITH OR WITHOUT AXONAL PERIPHERAL NEUROPATHY (OMIM:151800)