Phenotypes for disease #05384 (neuropathy (neuropathy))

93 entries on 1 page. Showing entries 1 - 93.
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AscendingPhenotype ID     
Diagnosis/Initial     
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Phenotype details     
Inheritance     
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Phenotype/Onset     
Protein     
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Individual ID     
0000124257 demyelinating neuropathy - - Unknown - - - - Johan den Dunnen 00151894
0000124261 congenital hypomyelinating neuropathy ? - - Unknown - - - - Johan den Dunnen 00151898
0000124264 congenital hypomyelinating neuropathy ? - - Unknown - - - - Johan den Dunnen 00151901
0000124269 neuropathy, periaxin-related - - Unknown - - - - Johan den Dunnen 00151906
0000124273 neuropathy, periaxin-related - - Unknown - - - - Johan den Dunnen 00151910
0000124274 neuropathy, periaxin-related - - Unknown - - - - Johan den Dunnen 00151911
0000124278 neuropathy, periaxin-related - - Unknown - - - - Johan den Dunnen 00151915
0000124324 neuropathy, hereditary sensory, type II - - Unknown - - - - Johan den Dunnen 00151961
0000223929 neuropathy CMT2D;HMN5A distal weakness/wasting upper and lower limbs Familial, autosomal dominant 59y - - - Johan den Dunnen 00296523
0000223930 neuropathy CMT2D;HMN5A eeakness in fingers, brisk deep tendon reflexes in upper limbs/knee; wasting in feet, asymmetric foot deformity, tiptoeing in childhood Familial, autosomal dominant 49y - - - Johan den Dunnen 00296524
0000223932 neuropathy CMT2D;HMN5A numbness in both hands; foot drop, wasting of tibialis anterior, weakness foot dorsiflexion; nerve conduction study prolonged distal motor latency, prolonged F waves, small motor responses common peroneal and posterior tibial nerves, mildly reduced conduction velocities common peroneal nerve, low normal or slightly small sensory nerve action potential Familial, autosomal dominant 52y - - - Johan den Dunnen 00296525
0000223942 neuropathy CMT2D;HMN5A severe muscle weakness, slightly more marked in lower limbs and distally; ventilator-dependent; needle EMG widespread and severe neurogenic changes; nerve conduction study severe reduction compound muscle action potential, slowing motor conduction velocity, normal sensory nerve action potential Unknown 01y - - - Johan den Dunnen 00296522
0000223955 neuropathy CMT2D;HMN5A typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties; upper limbs dorsal interosseous muscle atrophy, weak thumb/index finger; lower limbs ankle dorsi and plantar flexion weakness Familial, autosomal dominant 34y - - - Johan den Dunnen 00296547
0000223960 neuropathy CMT2D;HMN5A typical clinical and electrophysiological signs of dHMN-V, upper limb predominant distal neuropathy since early twenties Familial, autosomal dominant - - - - Johan den Dunnen 00296553
0000223961 neuropathy CMT2D;HMN5A see paper; ..., 6y-developed non-compaction cardiomyopathy, exercise induced myalgia; white matter changes, increased lactate Familial, autosomal dominant 12y - - - Johan den Dunnen 00296554
0000223962 neuropathy - bilateral talipes, mild axonal neuropathy Familial, autosomal dominant - - - - Johan den Dunnen 00296555
0000223963 neuropathy CMT2D;HMN5A no upper limb weakness; lower limb pes cavus, tight Achilles tendon; chronic denervation in legs Isolated (sporadic) 16y - - - Johan den Dunnen 00296557
0000223964 neuropathy CMT2D;HMN5A upper limb weakness in muscles around thumb, lower limbs pes cavus, hammer toes, ankle jerks depressed Familial, autosomal dominant 11y - - - Johan den Dunnen 00296558
0000223965 neuropathy CMT2D;HMN5A upper limb weakness/wasting in small muscles of hands; lower limb pain and weakness in feet; nerve conduction study upper limb normal compound muscle action potential,mild/moderate slowing motor conduction velocity, normal sensory nerve action potential; nerve conduction study upper limb potentials absent motor conduction velocity, lower limit of normal sensory nerve action potential; needle EMG length-dependent denervation changes Familial, autosomal dominant 58y - - - Johan den Dunnen 00296559
0000227347 complex inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300026
0000227353 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300032
0000227365 complex inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300044
0000227369 complex inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300048
0000227378 mixed inherited peripheral neuropathy - - Familial, X-linked dominant - - - - Johan den Dunnen 00300057
0000227379 mixed inherited peripheral neuropathy - - Familial, X-linked dominant - - - - Johan den Dunnen 00300058
0000227388 mixed inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300067
0000227389 CMT1/CMT2 - - Familial, autosomal recessive - - - - Johan den Dunnen 00300068
0000227401 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300080
0000227416 complex inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300095
0000227429 complex inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300108
0000227431 complex inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300110
0000227435 complex inherited peripheral neuropathy - - Unknown - - - - Johan den Dunnen 00300114
0000227447 complex inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300126
0000227453 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300132
0000227463 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300142
0000227473 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300152
0000227476 mixed inherited peripheral neuropathy - - Familial, autosomal dominant - - - - Johan den Dunnen 00300155
0000227480 complex inherited peripheral neuropathy - - Familial, autosomal recessive - - - - Johan den Dunnen 00300159
0000227744 XLA XLA - Familial, X-linked recessive 10y 02y06m Upper respiratory tract infections - Sneha Sawant Desai 00300437
0000228476 CMT2 - mild severity; axonal motor NCS motor NCS Familial, autosomal recessive 43y 10y walking difficulties - Johan den Dunnen 00301208
0000228477 CMT2 - mild severity; axonal motor NCS Familial, autosomal recessive 38y 10y distal atrophy of lower limbs - Johan den Dunnen 00301209
0000228478 CMT2 (motor predominant) - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; Rapid onset after flu-like syndrome, upper limb tremor Familial, autosomal recessive 39y 15y unable to stand on toes and heels - Johan den Dunnen 00301210
0000228479 CMT intermediate - moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor, mild hearing loss Familial, autosomal recessive 17y 13y difficulties running and jumping, ankle sprains - Johan den Dunnen 00301211
0000228480 CMT2 (motor predominant) - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; muscle ache, raised CK up to 1200 IU, scapular winging Familial, autosomal recessive 20y 14y unable to stand on toes, walking difficulties - Johan den Dunnen 00301212
0000228481 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; upper limb tremor Familial, autosomal recessive 23y 12y walking and running difficulties, decreased sport performance - Johan den Dunnen 00301213
0000228482 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal Familial, autosomal recessive 59y 28y unsteadiness - Johan den Dunnen 00301214
0000228483 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 29y 14y not available - Johan den Dunnen 00301215
0000228484 dHMN - mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; rapid worsening Familial, autosomal recessive 32y 20y balance problems during pregnancy - Johan den Dunnen 00301216
0000228485 CMT intermediate - mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; upper limb tremor Familial, autosomal recessive 15y 12y walking difficulty - Johan den Dunnen 00301217
0000228486 CMT2 - mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 23y 12y walking difficulty - Johan den Dunnen 00301218
0000228487 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; stress fractures Familial, autosomal recessive 34y 15y unable to stand on toes - Johan den Dunnen 00301219
0000228488 dHMN - moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; Left peroneal nerve mononeuropathy Familial, autosomal recessive 43y 13y unable to stand on toes - Johan den Dunnen 00301220
0000228489 complex CMT2 - mild severity; axonal motor NCS; sensory NCS lower limbs normal; Complex ataxo-spastic syndrome entailing mental retardation (since age 3), coarse facial features, bulky stature Familial, autosomal recessive 34y 29y walking difficulties - Johan den Dunnen 00301221
0000228490 CMT2 - moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl; upper limb distal weakness and tremor Familial, autosomal recessive 27y 10y walking difficulties - Johan den Dunnen 00301222
0000228491 CMT2 - mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl Familial, autosomal recessive 36y 20y walking difficulties - Johan den Dunnen 00301223
0000228492 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced; upper limb tremor Familial, autosomal recessive 28y 18y unable to stand on toes, unable to wear high heels - Johan den Dunnen 00301224
0000228493 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs normal Familial, autosomal recessive 55y 15y walking difficulties - Johan den Dunnen 00301225
0000228494 CMT intermediate - moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal Familial, autosomal recessive 23y 12y walking and running difficulties - Johan den Dunnen 00301226
0000228495 CMT2 - moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent; burning pain in hands and feet Familial, autosomal recessive 20y 12y walking difficulties - Johan den Dunnen 00301227
0000228496 CMT2 - moderate severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs absent Familial, autosomal recessive 17y 15y walking difficulties - Johan den Dunnen 00301228
0000228497 CMT2 - severe severity Familial, autosomal recessive 70y 40y walking difficulties - Johan den Dunnen 00301229
0000228498 CMT2 - moderate severity Familial, autosomal recessive 39y 29y walking difficulties - Johan den Dunnen 00301230
0000228499 CMT2 - mild severity Familial, autosomal recessive 19y 16y walking difficulties - Johan den Dunnen 00301231
0000228500 CMT2 (motor predominant) - mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 26y 18y Difficulties running and jumping - Johan den Dunnen 00301232
0000228501 CMT2 (motor predominant) - moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 29y 20y walking difficulties - Johan den Dunnen 00301233
0000228502 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal Familial, autosomal recessive 31y 15y distal atrophy of lower limbs - Johan den Dunnen 00301234
0000228503 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; epilepsy, vascular encephalopathy, upper limb tremor, scoliosis. Has a normal sural nerve biopsy Familial, autosomal recessive 52y 25y walking difficulties - Johan den Dunnen 00301235
0000228504 CMT2 - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs reduced Familial, autosomal recessive 45y 20y pes cavus - Johan den Dunnen 00301236
0000228505 dHMN - moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes Familial, autosomal recessive 42y 20y walking difficulties - Johan den Dunnen 00301237
0000228506 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal Familial, autosomal recessive 46y 14y walking difficulties - Johan den Dunnen 00301238
0000228507 CMT2 (motor predominant) - moderate severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal; split hand Familial, autosomal recessive 41y 12y walking difficulties - Johan den Dunnen 00301239
0000228508 dHMN - moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; scoliosis, raised CK Familial, autosomal recessive 28y 13y walking difficulties - Johan den Dunnen 00301240
0000228509 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes Familial, autosomal recessive 48y 40y walking difficulties - Johan den Dunnen 00301241
0000228510 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; brisk reflexes Familial, autosomal recessive 52y 20y walking difficulties - Johan den Dunnen 00301242
0000228511 CMT2 - moderate severity; axonal motor NCS; sensory NCS upper limbs absent, sensory NCS lower limbs absent; scoliosis Familial, autosomal recessive 41y 2y retarded developmental milestone - Johan den Dunnen 00301243
0000228512 CMT2 - mild severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent Familial, autosomal recessive 18y 15y falls - Johan den Dunnen 00301244
0000228513 CMT2 - moderate severity; intermediate motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs absent; scoliosis Familial, autosomal recessive 42y 30y walking difficulties - Johan den Dunnen 00301245
0000228514 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal; raised CK Familial, autosomal recessive 29y 18y walking difficulties, cramps - Johan den Dunnen 00301246
0000228515 CMT2 (motor predominant) - moderate severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced; mild hearing loss Familial, autosomal recessive 60y 15y falls - Johan den Dunnen 00301247
0000228516 CMT intermediate - mild severity; intermediate motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal Familial, autosomal recessive 36y 25y distal atrophy of lower limbs - Johan den Dunnen 00301248
0000228517 dHMN - mild severity; axonal motor NCS; sensory NCS upper limbs reducedl, sensory NCS lower limbs normal Familial, autosomal recessive 16y 12y running difficulties - Johan den Dunnen 00301249
0000228518 CMT2 (motor predominant) - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs normal Familial, autosomal recessive 29y 10y foot drop and walking difficulties - Johan den Dunnen 00301250
0000228519 CMT2 - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 24y 10y walking difficulties - Johan den Dunnen 00301251
0000228520 CMT2 - mild severity; axonal motor NCS; sensory NCS upper limbs normal, sensory NCS lower limbs reduced Familial, autosomal recessive 26y 16y walking difficulties - Johan den Dunnen 00301252
0000231198 44y - Distal hereditary motor neuropathy; Motor polyneuropathy Unknown - - - - Andreas Laner 00305348
0000267894 Neuropathy Neuropathy - Familial, autosomal recessive - - - - Tess Holling 00372581
0000267897 Neuropathy Neuropathy - Familial, autosomal recessive - - - - Tess Holling 00372584
0000278763 Neuropathy Neuropathy - Familial, autosomal recessive - - - - Tess Holling 00384980
0000335937 - - - Unknown - - - - Gemeinschaftspraxis für Humangenetik Dresden 00446735
0000341591 - - Optic atrophy (HP:0000648); Optic neuropathy (HP:0001138); Reduced visual acuity (HP:0007663) ; Abnormality of retinal pigmentation (HP:0007703); Abnormality of visual evoked potentials (HP:0000649); Color vision defect (HP:0000551); Abnormal electroretinogram (HP:0000512); Attenuation of retinal blood vessels (HP:0007843) Familial, autosomal dominant 27y <16y - - Mohamed Selhane 00452949
0000347728 neuropathy MITCH see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; chronic axon loss Isolated (sporadic) 12y 12y - - Johan den Dunnen 00460001
0000347729 neuropathy MITCH see paper; ..., 15y-coma; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; normal to decreased cognition; ataxia; ongoing and chronic axon loss Isolated (sporadic) 15y 9y - - Johan den Dunnen 00460002
0000347730 neuropathy MITCH see paper; ..., 19y-deceased; progressive neuropathy; no inflammatory response; very-long-chain fatty acid normal; normal to abnormal white matter demyelination; decreased sensorimotor polyneuropathy; decreased cognition; ataxia; ongoing and chronic axon loss Isolated (sporadic) 9y 3y - - Johan den Dunnen 00460003
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