Posterior Column Ataxia |
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Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis |
OMIM:176250 |
Cerebellar Ataxia, Benign, With Thermoanalgesia |
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Progressive cerebellar ataxia, Axonal loss, Impaired temperature sensation |
OMIM:212890 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
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Peripheral axonal degeneration, Impaired distal vibration sensation, Axonal degeneration, Distal ... |
OMIM:614436 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
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Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Scoliosis |
OMIM:616155 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Kyphoscol... |
OMIM:214400 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
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Peripheral axonal degeneration, Cerebellar atrophy, Ataxia, Decreased number of large peripheral ... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Type 4C |
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Peripheral axonal degeneration, Greater auricular nerve thickening, Facial palsy, Decreased numbe... |
OMIM:601596 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
ORPHA:98856 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Distal sensory impai... |
OMIM:604484 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of peripheral myelinated ner... |
OMIM:302800 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral axonal degeneration, Ataxia, Kyphoscoliosis, Chorea, Axonal degeneration, Cerebral atr... |
OMIM:604168 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
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Failure to thrive in infancy, Decreased number of large peripheral myelinated nerve fibers, Axona... |
ORPHA:90103 |
Mitochondrial Dna Depletion Syndrome 18 |
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Failure to thrive, Falls, Scoliosis, Axonal degeneration |
OMIM:618811 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
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Ataxia, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lower limbs, Impaired ... |
ORPHA:88628 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
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Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Neuropathic spinal arthropathy, Peripheral axonal degeneration, Decreased number of peripheral my... |
OMIM:607706 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
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Waddling gait, Kyphosis, Axonal degeneration |
OMIM:618138 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
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Peripheral axonal neuropathy, Somatic sensory dysfunction, Steppage gait, Onion bulb formation, P... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Peripheral axonal neuro... |
OMIM:615490 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Impaired d... |
ORPHA:101097 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
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Peripheral axonal degeneration, Small for gestational age, Axonal degeneration, Degeneration of a... |
OMIM:604320 |
Amyotrophy, Hereditary Neuralgic |
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Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
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Peripheral axonal neuropathy, Axonal degeneration |
OMIM:620011 |
Angioedema, Hereditary, 1 |
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Hypoesthesia, Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Adrenomyeloneuropathy |
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Back pain, Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tract... |
ORPHA:139399 |
De Sanctis-Cacchione Syndrome |
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Ataxia, Axonal degeneration, Scissor gait, Optic atrophy, Cerebral atrophy, Choreoathetosis, Glob... |
OMIM:278800 |
Spastic Paraplegia 7, Autosomal Recessive |
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Spastic ataxia, Waddling gait, Cerebellar atrophy, Degeneration of the lateral corticospinal trac... |
OMIM:607259 |
Combined Oxidative Phosphorylation Defect Type 29 |
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Optic neuropathy, Axonal degeneration, Neurodegeneration, Diffuse cerebellar atrophy, Global brai... |
ORPHA:478029 |
Combined Oxidative Phosphorylation Deficiency 29 |
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Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Global brain atrophy |
OMIM:616811 |
Spastic Paraplegia Type 7 |
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Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Impaired vibration sensation ... |
ORPHA:99013 |
Cerebrotendinous Xanthomatosis |
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Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Abnormality of the vertebral ... |
ORPHA:909 |
Kanzaki Disease |
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Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy, Distal sensory impairment |
OMIM:609242 |
Primary Lateral Sclerosis |
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Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Atrophy of the spinal cord, ... |
ORPHA:35689 |