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, Demyelinating, Type 1B |
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Decreased number of peripheral myelinated nerve fibers, Ulnar claw, Split hand, Hammertoe, Myelin... |
OMIM:118200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
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Segmental peripheral demyelination/remyelination, Hammertoe, Onion bulb formation, Axonal degener... |
OMIM:606483 |
Charcot-Marie-Tooth Disease, Type 4A |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... |
OMIM:214400 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
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Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
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Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
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Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Ulnar claw, Segment... |
OMIM:118220 |
Methionine Adenosyltransferase I/Iii Deficiency |
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CNS demyelination, Peripheral demyelination, Hypermethioninemia |
OMIM:250850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Facial pals... |
OMIM:118210 |
Roussy-Levy Hereditary Areflexic Dystasia |
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Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:180800 |
Eiken Syndrome |
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Abnormal trabecular bone morphology, Epiphyseal dysplasia, Abnormal acetabulum morphology, Abnorm... |
ORPHA:79106 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
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Hammertoe, Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
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Decreased number of large peripheral myelinated nerve fibers, Hammertoe, Talipes equinovarus, Uln... |
OMIM:608340 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
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Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
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Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
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Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Charcot-Marie-Tooth Disease, Type 4B2 |
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Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... |
OMIM:604563 |
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
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Bulging epiphyses, Bowing of the long bones, Delayed epiphyseal ossification, Rickets, Genu varum... |
OMIM:600785 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
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Decreased number of peripheral myelinated nerve fibers, Decreased number of large peripheral myel... |
OMIM:614895 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Limitation of movement at ankles, Symmetric peripheral demyelination, Demyelinating motor neuropa... |
ORPHA:206594 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Fatiguable weakness of proximal limb muscles, Peripheral demyelination, Segmental peripheral demy... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
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Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Flexion c... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
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Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
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Peripheral axonal degeneration, Split hand, Flexion contracture, Axonal loss, Clusters of axonal ... |
ORPHA:101097 |
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 4H |
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Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Talipes equinovarus... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
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Decreased number of peripheral myelinated nerve fibers, Flexion contracture, Optic atrophy, Hamme... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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Decreased number of large peripheral myelinated nerve fibers, Hammertoe, Mildly elevated creatine... |
OMIM:615376 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
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Onion bulb formation |
OMIM:616039 |
Neuropathy, Hereditary Sensory, X-Linked |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
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Onion bulb formation, Peripheral hypomyelination, Abnormal cranial nerve morphology |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
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Hammertoe, Onion bulb formation, Peripheral demyelination |
OMIM:618279 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
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Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
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Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Paraparetic Variant Of Guillain-Barré Syndrome |
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Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Peripheral axonal neuropathy, Onion bulb formation, Hammertoe |
OMIM:610100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
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Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Null Syndrome |
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Optic atrophy, Peripheral demyelination, Demyelinating peripheral neuropathy, CNS hypomyelination |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Type 4J |
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Ankle flexion contracture, Axonal loss, Distal arthrogryposis, Peripheral hypomyelination, Onion ... |
OMIM:611228 |
Lethal Congenital Contracture Syndrome 8 |
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Flexion contracture, Facial diplegia, Hammertoe, Distal arthrogryposis, Peripheral hypomyelination |
OMIM:616287 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Hypertrophic nerve changes, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601098 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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Pathologic fracture, Axonal loss, Bone cyst, Peripheral demyelination |
OMIM:221770 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
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Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
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Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
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Decreased number of peripheral myelinated nerve fibers, Diaphyseal dysplasia |
ORPHA:2386 |
Tangier Disease |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
OMIM:205400 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
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Claw hand deformity, Elevated circulating creatine kinase concentration, Hammertoe, Axonal loss, ... |
OMIM:614455 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal atrophy, Onion bulb for... |
OMIM:605588 |
Charcot-Marie-Tooth Disease, Type 4B1 |
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Talipes equinovarus, Myelin outfoldings, Irregular myelin loops, Facial palsy |
OMIM:601382 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
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Peripheral axonal degeneration, Split hand, Axonal degeneration, Peripheral hypomyelination, Tali... |
OMIM:604168 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
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Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Abetalipoproteinemia |
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CNS demyelination, Abetalipoproteinemia, Peripheral demyelination, Acanthocytosis |
OMIM:200100 |
Charcot-Marie-Tooth Disease, Type 4K |
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Axonal loss, Peripheral demyelination |
OMIM:616684 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
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Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Metaphyseal Dysplasia, Braun-Tinschert Type |
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Osteopenia, Broad tibial metaphyses, Tibial bowing, Humerus varus, Exostoses of the ulna, Scleros... |
ORPHA:85188 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
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Decreased number of peripheral myelinated nerve fibers, Foot osteomyelitis, Hammertoe, Peripheral... |
OMIM:600882 |
Charcot-Marie-Tooth Disease Type 4G |
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Talipes equinovarus, Peripheral axonal neuropathy, Peripheral demyelination, Demyelinating periph... |
ORPHA:99953 |
Coenzyme Q10 Deficiency, Primary, 8 |
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Flexion contracture, Elevated circulating creatinine concentration, Peripheral demyelination |
OMIM:616733 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
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Peripheral demyelination |
ORPHA:99944 |
Spastic Paraplegia 55, Autosomal Recessive |
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Peripheral axonal neuropathy, Optic atrophy, Onion bulb formation, Talipes equinovarus |
OMIM:615035 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
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CNS demyelination, Peripheral demyelination |
OMIM:249900 |
Metaphyseal Dysostosis-Intellectual Disability-Conductive Deafness Syndrome |
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Joint laxity, Metaphyseal dysplasia, Broad tibial metaphyses, Bowing of the legs, Metaphyseal wid... |
ORPHA:2502 |
Neuropathy, Congenital Hypomyelinating, 2 |
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Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Onion bulb formation |
OMIM:618184 |
Krabbe Disease |
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CNS demyelination, Optic atrophy, Peripheral demyelination, Autoimmune thrombocytopenia |
OMIM:245200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
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Facial palsy, Flexion contracture, Hammertoe, Ulnar claw, Onion bulb formation |
OMIM:607684 |
Angioosteohypotrophic Syndrome |
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Abnormal trabecular bone morphology, Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia in... |
ORPHA:75508 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
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Decreased number of peripheral myelinated nerve fibers, Split hand, Talipes equinovarus, Axonal r... |
OMIM:607831 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia... |
ORPHA:3344 |
Spinocerebellar Ataxia Type 43 |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
ORPHA:497764 |
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 |
Osteosclerosis With Ichthyosis And Fractures |
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Increased bone mineral density, Recurrent fractures, Femoral bowing, Tibial bowing, Cortical thic... |
OMIM:166740 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossification, Rick... |
OMIM:600081 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
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Decreased number of peripheral myelinated nerve fibers, Hypercholesterolemia, Peripheral axonal n... |
OMIM:607250 |
Neuromyelitis Optica Spectrum Disorder |
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Peripheral demyelination |
ORPHA:71211 |
Peroxisome Biogenesis Disorder 8B |
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Elevated circulating phytanic acid concentration, Optic atrophy, Peripheral demyelination, Leukod... |
OMIM:614877 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
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Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum, Joint laxity, Ra... |
OMIM:300106 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Charcot-Marie-Tooth Disease, Type 4D |
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Claw hand deformity, Segmental peripheral demyelination/remyelination, Talipes cavus equinovarus,... |
OMIM:601455 |
Caffey Disease |
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Joint hypermobility, Bowing of the legs, Periosteal thickening of long tubular bones, Tibial bowi... |
OMIM:114000 |
Charcot-Marie-Tooth Disease Type 1B |
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Peripheral axonal neuropathy, Elevated circulating creatine kinase concentration, Peripheral dysm... |
ORPHA:101082 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
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Axonal loss, Peripheral demyelination |
OMIM:617672 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
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Decreased number of peripheral myelinated nerve fibers, Hyperlipidemia, Axonal degeneration, Dege... |
OMIM:604484 |
Posterior Column Ataxia With Retinitis Pigmentosa |
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Flexion contracture of finger, Optic atrophy, Camptodactyly, Joint contracture of the hand, Perip... |
OMIM:609033 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
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Knee osteoarthritis, Flared metaphysis, Flattened epiphysis, Tibial bowing, Femoral bowing, Small... |
ORPHA:93356 |
Hypophosphatemic Rickets, X-Linked Recessive |
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Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300554 |
Charcot-Marie-Tooth Disease, Type 4B3 |
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Myelin outfoldings, Onion bulb formation, Syndactyly |
OMIM:615284 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
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Reduced bone mineral density, Agammaglobulinemia, Long fibula, Abnormal metaphysis morphology, Ly... |
ORPHA:935 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
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Bulging epiphyses, Recurrent fractures, Bowing of the legs, Abnormal circulating calcium concentr... |
OMIM:241530 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
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Short metacarpal, Cone-shaped metacarpal epiphyses, Iliac crest serration, Widened greater sciati... |
OMIM:250220 |
Fibular Hemimelia |
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Bowing of the legs, Tibial bowing, Foot oligodactyly, Abnormal bone ossification, Short tibia, Ar... |
ORPHA:93323 |
Léri-Weill Dyschondrosteosis |
|
Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib... |
ORPHA:240 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Limited wrist movement, Decreased number of large peripheral my... |
ORPHA:99948 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone resorption, Delaye... |
OMIM:264700 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Shortening of the talar neck, Osteomalacia, Bowing of the legs, Abnormal circulating calcium conc... |
OMIM:307800 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Axonal degeneration/regeneration, Tapered finger, Long fingers, Fle... |
OMIM:218000 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers |
ORPHA:101111 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Multiple Sulfatase Deficiency |
|
Broad hallux, Splenomegaly, Broad thumb, CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Osteolytic defe... |
OMIM:201300 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Axonal dege... |
OMIM:615490 |
Vitamin D-Dependent Rickets, Type 2A |
|
Thin bony cortex, Bulging epiphyses, Recurrent fractures, Bowing of the legs, Subperiosteal bone ... |
OMIM:277440 |
Leri-Weill Dyschondrosteosis |
|
Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul... |
OMIM:127300 |
Dent Disease 1 |
|
Bulging epiphyses, Osteomalacia, Recurrent fractures, Bowing of the legs, Delayed epiphyseal ossi... |
OMIM:300009 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Ulnar bowing, Osteoarthritis, Flared metaphysis, Coxa vara, Tibial bow... |
OMIM:602111 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Achilles ... |
OMIM:302800 |
Osteopetrosis, Autosomal Recessive 7 |
|
Decreased circulating IgG level, Abnormal trabecular bone morphology, Femur fracture, Splenomegal... |
OMIM:612301 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Irregular, rachitic-like metaphyses, Subperiosteal bone resorption, Delayed epiphys... |
ORPHA:289157 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Talipes equinovarus, Sensor... |
OMIM:256850 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Cerebral dysmyelination, Dysmyelinating leukodystrophy, Hepatosplenomegaly, Peripheral hypomyelin... |
OMIM:609136 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Symmetric peripheral demyelination, Leukodystrophy |
OMIM:169500 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Florid Cemento-Osseous Dysplasia |
|
Mandibular osteomyelitis, Abnormal trabecular bone morphology, Multiple bony cystic lesions, Abno... |
ORPHA:83451 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Elevated circulating creatine kinase concentration, Decreased num... |
OMIM:208920 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
|
Micromelia, Bowing of the legs, Triangular shaped distal phalanges of the hand, Abnormal calcific... |
OMIM:271665 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Severe demyelination of the whit... |
ORPHA:79282 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Osteomyelitis |
OMIM:614116 |
Adult Krabbe Disease |
|
CNS demyelination, Peripheral demyelination |
ORPHA:206448 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Spondyloepimetaphyseal Dysplasia, Genevieve Type |
|
Joint laxity, Flared metaphysis, Advanced ossification of carpal bones, Flat acetabular roof, Irr... |
OMIM:610442 |
Peho Syndrome |
|
Optic atrophy, Peripheral dysmyelination, Tapered finger |
OMIM:260565 |
Fibular Aplasia, Tibial Campomelia, And Oligosyndactyly Syndrome |
|
Syndactyly, Hand oligodactyly, Tibial bowing, Foot oligodactyly, Short tibia, Fibular aplasia |
OMIM:246570 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased number of large peripheral myelinated nerve fibers, Foot osteomyelitis, Osteomyelitis, ... |
OMIM:162400 |
Metachromatic Leukodystrophy |
|
Optic atrophy, Peripheral demyelination |
OMIM:250100 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Hypouricemia, Peripheral demyelination |
OMIM:252160 |
Leukodystrophy, Hypomyelinating, 5 |
|
Onion bulb formation, Leukodystrophy, CNS hypomyelination |
OMIM:610532 |
Autosomal Spastic Paraplegia Type 58 |
|
Peripheral demyelination |
ORPHA:397946 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Axonal loss, Hypouricemia, Peripheral demyelination |
OMIM:252150 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Sensory axonal neuro... |
OMIM:271245 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Swan neck-like deformities of the fingers, Decreased number of large peripheral myelinated nerve ... |
OMIM:270550 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:604360 |
Glutaric Acidemia I |
|
Elevated circulating glutaric acid concentration, Symmetrical progressive peripheral demyelinatio... |
OMIM:231670 |
Rothmund-Thomson Syndrome Type 2 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Aplastic anemia, A... |
ORPHA:221016 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Iliac crest serration, Metaphyseal chondrodysplasia, Cone-shaped epiphysis, Rhi... |
ORPHA:93317 |
Rothmund-Thomson Syndrome Type 1 |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Short metacarpal, Aplastic anemia, M... |
ORPHA:221008 |
East Syndrome |
|
Peripheral axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating reni... |
ORPHA:199343 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, Decreased number of large peri... |
ORPHA:298 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Hip dislocation, Delayed peripheral myelination |
ORPHA:464282 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Abnormal peripheral nerve morphology by anatomical site, Abnormal peripheral myelination |
ORPHA:168563 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Short metacarpal, Radial bowing, Recurrent fractures, Femoral retrovers... |
OMIM:610915 |
Spastic Ataxia 5, Autosomal Recessive |
|
Onion bulb formation |
OMIM:614487 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Abnormal trabecular bone morphology, Calcinosis, Hypoplasia of the ulna, Aplastic ane... |
ORPHA:2909 |
Dent Disease |
|
Enlarged epiphyses, Bulging epiphyses, Renal hypophosphatemia, Osteomalacia, Elevated circulating... |
ORPHA:1652 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Joint laxity, Osteomyelitis, Delayed myelination, Neurofibroma, Genu valgum, Talipes equinovarus,... |
OMIM:619475 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration |
ORPHA:90103 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Knee flexion contracture, Wrist flexion contr... |
OMIM:618733 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Painless fractures due to injury, Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Cockayne Syndrome B |
|
Abnormal peripheral myelination, Splenomegaly, Limitation of joint mobility, Optic atrophy, Osteo... |
OMIM:133540 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Optic atrophy, Peripheral demyelination |
ORPHA:171629 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Segmental peripheral demyelination/remyelination, Low plasma citrulline, Optic atrophy, Hyperalan... |
ORPHA:255210 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Joint contracture of the hand, Congenital finger flexion contrac... |
ORPHA:466768 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Facial diplegia, Peripheral axonal neurop... |
ORPHA:254930 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Joint laxity, Sandal gap, 2-3 toe syndact... |
ORPHA:477817 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Optic neuropathy, Optic atrophy, Talipes equinovarus, Arthrogryposis multiplex congenita, Onion b... |
ORPHA:320375 |
Cockayne Syndrome A |
|
Hip contracture, Abnormal peripheral myelination, Splenomegaly, Limitation of joint mobility, Opt... |
OMIM:216400 |
Charcot-Marie-Tooth Disease Type 1F |
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Demyelinating sensory neuropathy, Optic nerve hypoplasia, Demyelinating motor neuropathy, Decreas... |
ORPHA:101085 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
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Basal lamina onion bulb formation, Demyelinating peripheral neuropathy |
ORPHA:2821 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
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Chronic axonal neuropathy, Hypokalemia, Peripheral hypomyelination, Increased circulating renin l... |
OMIM:612780 |
Bohring-Opitz Syndrome |
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Syndactyly, Overlapping toe, Delayed peripheral myelination, Tapered finger, Mesomelic/rhizomelic... |
OMIM:605039 |
Charcot-Marie-Tooth Disease Type 4C |
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Decreased number of peripheral myelinated nerve fibers, Optic atrophy, Hammertoe, Hip dysplasia, ... |
ORPHA:99949 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
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CNS demyelination, Peripheral demyelination, Hyperammonemia |
OMIM:220111 |
Insensitivity To Pain, Congenital, With Anhidrosis |
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Decreased number of small peripheral myelinated nerve fibers, Autoamputation of digits, Osteomyel... |
OMIM:256800 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
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Decreased number of peripheral myelinated nerve fibers, Autoamputation of digits, Osteomyelitis l... |
OMIM:256810 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
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Decreased number of large peripheral myelinated nerve fibers, Elevated circulating creatinine con... |
OMIM:223900 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
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Aplasia of the distal phalanx of the 5th toe, Aplasia of the distal phalanx of the 5th finger, De... |
ORPHA:364577 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Myelin outfoldings, Optic atrophy |
ORPHA:99956 |
Choreoacanthocytosis |
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Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Elevated ci... |
ORPHA:2388 |