Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral atr... |
OMIM:105500 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... |
OMIM:253400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness |
OMIM:619141 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Distal lower limb muscle weakness, Distal muscle weakness, Fatty replacement of skeletal muscle, ... |
OMIM:618279 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:101097 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Demyelinating motor neuropathy, Motor conducti... |
ORPHA:206594 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,... |
OMIM:105550 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:205250 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Ske... |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
Spinal Muscular Atrophy, Type Iv |
|
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Centrally nucleated skeletal m... |
OMIM:271150 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Lower limb muscle weakness |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cor... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cor... |
OMIM:616437 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:611895 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Abnormal pyramidal sign, Spastic dysarthria, Head tremor, Ataxia, Upper limb spasticity, Truncal ... |
ORPHA:320391 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Progressive musc... |
OMIM:608627 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Leukodystrophy, Loss of ambulation, Ataxia, Limb trem... |
OMIM:614877 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:145900 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Hypogonadotrop... |
OMIM:604168 |
Desminopathy |
|
Neck flexor weakness, Fatigable weakness of bulbar muscles, Respiratory insufficiency due to musc... |
ORPHA:98909 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Muscle weakness, Degeneration... |
OMIM:105400 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy, Respiratory insu... |
OMIM:301830 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... |
ORPHA:275872 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, C... |
OMIM:607596 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... |
OMIM:608340 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Foot dorsiflexor weakness, Decreased number of large peripheral mye... |
ORPHA:497764 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hepatic steatosis, Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal... |
ORPHA:52430 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... |
OMIM:604484 |
Mitochondrial Myopathy With Diabetes |
|
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus... |
OMIM:500002 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... |
OMIM:607684 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... |
OMIM:607641 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Distal muscle weakness, Axonal degeneration/regeneration, Segmental peripheral demyelination/remy... |
OMIM:606483 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... |
OMIM:602099 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness of bulbar muscles, Genera... |
ORPHA:803 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... |
OMIM:611890 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells, Muscle weakness |
OMIM:253550 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... |
OMIM:615035 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Muscle weakness |
OMIM:614808 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118200 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Muscle... |
ORPHA:65684 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal anterior horn cell mor... |
ORPHA:1145 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal... |
OMIM:617672 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gliosis |
OMIM:300857 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... |
OMIM:605285 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... |
ORPHA:247604 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609311 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118220 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Distal lower limb amyotrophy, Distal upper limb muscle weakness, Distal upper limb amyotrophy, St... |
OMIM:615185 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Muscle weakness |
OMIM:612069 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Cerebellar atrophy, Ataxia, Involuntary movements, Hypergonadotropic hypogonadism, Elevated circu... |
OMIM:271245 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Decreased nerve conduction velocity, Hand muscl... |
ORPHA:2932 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hand muscle weakness, ... |
OMIM:302800 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Gne Myopathy |
|
Fatty replacement of skeletal muscle, Quadriceps muscle weakness, Abnormality of the foot muscula... |
ORPHA:602 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Muscle weakness |
OMIM:613435 |
Spermatogenic Failure 51 |
|
Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Macrozoospermia, Absent sp... |
OMIM:619177 |
Autosomal Spastic Paraplegia Type 58 |
|
Clonus, Tremor, Chorea, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Titubation, Intention tr... |
ORPHA:397946 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... |
OMIM:616199 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Distal amyotrophy... |
OMIM:607731 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Hand muscle atrophy, Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, D... |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Steppage gait, Limb muscle weakness, Onion... |
OMIM:620378 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Upper limb muscle... |
OMIM:607677 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gliosis, Myoclonus, Gait disturban... |
OMIM:221770 |
Spermatogenic Failure, X-Linked, 6 |
|
Abnormality of male external genitalia, Male infertility, Coiled sperm flagella, Reduced sperm mo... |
OMIM:301101 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Optic atrophy, Distal a... |
OMIM:311070 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... |
OMIM:162500 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Skeletal muscle atrophy, Streak ovary, Abnormality of female external genitalia, Abnormal periphe... |
ORPHA:168563 |
Oculopharyngodistal Myopathy |
|
Proximal muscle weakness in upper limbs, Progressive external ophthalmoplegia, Progressive distal... |
ORPHA:98897 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Progressive distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle... |
ORPHA:399058 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Peripheral axonal neurop... |
ORPHA:101077 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Reduced sperm motility, Acephalic spermatozoa, Abnormal sperm ... |
ORPHA:529970 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Progressive proximal muscle weakness, Distal lower limb ... |
ORPHA:399096 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Proximal muscle weakness, Decreased number of la... |
OMIM:617087 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... |
OMIM:236792 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Flexion con... |
OMIM:611105 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Substantia nigra gliosis, Vocal cord paralysis, Abnormal pyramidal sign,... |
ORPHA:276244 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Premature ovarian insufficiency, Decreased circulating progesterone, Unsteady gait, Optic atrophy... |
OMIM:603896 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Absent s... |
OMIM:301059 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... |
ORPHA:600 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Spermatogenic Failure 42 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Tapered sperm head, Microcephalic... |
OMIM:618745 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Int... |
ORPHA:276435 |
Hemimegalencephaly |
|
Gray matter heterotopia, Gliosis, Oculomotor nerve palsy, Pachygyria, Polymicrogyria, Abnormal ne... |
ORPHA:99802 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:604563 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of ant... |
ORPHA:2254 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... |
ORPHA:309169 |
Male Infertility With Teratozoospermia Due To Single Gene Mutation |
|
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... |
ORPHA:399808 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Distal muscle weakness, Spinal muscular at... |
OMIM:611067 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... |
ORPHA:280210 |
Distal Myopathy With Anterior Tibial Onset |
|
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Neck muscle weakness, Tibialis... |
ORPHA:178400 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Proximal muscle weakness... |
OMIM:620068 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Peripheral axonal neuropathy, Distal muscle weakness, Decreased number of large peripheral myelin... |
OMIM:608673 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Upper limb muscle weakness, Di... |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Distal muscle weakness, Axonal degeneration/regeneration, Distal amyotrophy, Steppage gait, Perip... |
OMIM:607736 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Neck flexor weakness, Dista... |
ORPHA:178464 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Unsteady gait, Gait ataxia, Acute demyelinating polyneuropathy, Distal lower limb muscle weakness... |
ORPHA:98916 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Skeletal muscle atrophy, Dystonia, Ataxia, Respiratory insufficiency due to m... |
OMIM:618276 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... |
OMIM:610100 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Voca... |
OMIM:158580 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Skeletal muscle atrophy, Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... |
OMIM:606482 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Distal muscle weakness, Fiber type grouping |
OMIM:614369 |
Null Syndrome |
|
Ataxia, Demyelinating peripheral neuropathy, Decreased nerve conduction velocity, Inability to wa... |
ORPHA:280234 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Multifocal Motor Neuropathy |
|
Progressive muscle weakness, Limb muscle weakness, Progressive distal muscle weakness |
ORPHA:641 |
Charcot-Marie-Tooth Disease Type 4A |
|
Distal muscle weakness, Hand muscle weakness, Decreased nerve conduction velocity, Decreased numb... |
ORPHA:99948 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... |
OMIM:606070 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Respiratory insufficiency due to m... |
ORPHA:2590 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Gliosis, Gait disturbance, Shuffli... |
OMIM:221820 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Generalized amyotrophy, Loss of ambulation, Scapular winging, Facial palsy, Progressive proximal ... |
OMIM:167320 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Ataxia, Progressive spastic par... |
ORPHA:206448 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait... |
ORPHA:95434 |
Myopathy, Myofibrillar, 4 |
|
Progressive muscle weakness, Progressive proximal muscle weakness, Progressive distal muscle weak... |
OMIM:609452 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Distal muscle weakness, Spinal muscular atrophy, Proximal muscle weakness, Tremor, Proximal amyot... |
OMIM:182980 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Upper limb muscle weakn... |
OMIM:607791 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, A... |
OMIM:301099 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... |
OMIM:609033 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Distal muscle weakness, Small for gestational age, Spinal muscula... |
OMIM:604320 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Steppage gait, Onion bulb formation, Foot dorsiflexor weakness |
OMIM:616039 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased ... |
ORPHA:90103 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Generalized amyotrophy, Difficul... |
ORPHA:401820 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Tremor, Cryptorchidism, Abnormality of neur... |
OMIM:300957 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... |
OMIM:611228 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Nonaka Myopathy |
|
Distal muscle weakness, Distal amyotrophy, Gait disturbance, EMG: myopathic abnormalities, Distal... |
OMIM:605820 |
Spermatogenic Failure 64 |
|
Male infertility, Reduced progressive sperm motility, Abnormal sperm head morphology, Oligozoospe... |
OMIM:619696 |
Laing Early-Onset Distal Myopathy |
|
Distal muscle weakness, Progressive muscle weakness, Proximal muscle weakness in lower limbs, Nec... |
ORPHA:59135 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Ataxia, Parkinsonism, Broad-based gait, R... |
OMIM:607136 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal amyotrophy, Cerebellar vermis atrophy |
OMIM:617018 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
Myopathy, Scapulohumeroperoneal |
|
Neck flexor weakness, Facial palsy, Progressive muscle weakness, Wrist drop, Foot dorsiflexor wea... |
OMIM:616852 |
Spermatogenic Failure 24 |
|
Coiled sperm flagella, Tapered sperm head, Microcephalic sperm head, Short sperm flagella, Reduce... |
OMIM:617959 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 11 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 79 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Oligozoospermia |
OMIM:620196 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... |
OMIM:616287 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Ataxia, Cerebral dysmyelination, Portal hypertension, Crypto... |
OMIM:609136 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness |
OMIM:619133 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... |
OMIM:169500 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Tay-Sachs Disease |
|
Skeletal muscle atrophy, Tremor, Dysmetria, Gliosis, Decerebrate rigidity, Progressive spasticity... |
ORPHA:845 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo... |
OMIM:614959 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations... |
OMIM:615048 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... |
OMIM:182815 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spermatogenic Failure 25 |
|
Non-obstructive azoospermia, Male infertility, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Cerebral cortical atrophy, Proximal muscle weakness |
OMIM:615911 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... |
OMIM:256030 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Distal muscle weakness, Tr... |
OMIM:607317 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Charcot-Marie-Tooth Disease Type 1F |
|
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... |
ORPHA:101085 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Decreased nerve conduction velocity, Optic atrophy, Hypertonia, Neurode... |
OMIM:245200 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... |
ORPHA:99947 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Proximal muscle weakness, Quadriceps m... |
ORPHA:611 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... |
OMIM:618655 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Skeletal muscle atrophy, Lower limb muscle weakness, Decreased nerve conduction velocity, Ophthal... |
OMIM:615284 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Exte... |
OMIM:109150 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Cryptorchidism, Delayed ... |
OMIM:214150 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Skeletal muscle at... |
OMIM:604360 |
Distal Nebulin Myopathy |
|
Progressive proximal muscle weakness, Neck flexor weakness, Progressive distal muscle weakness, F... |
ORPHA:399103 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Distal muscle weakness, Claw hand deformity, Abnormal auditory evoked potentials, Segmental perip... |
OMIM:601455 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Lower-l... |
OMIM:613710 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Gliosis, Spas... |
OMIM:213200 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased number of large peri... |
OMIM:615376 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Distal lower limb amyotrophy, Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy... |
ORPHA:431329 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Gai... |
OMIM:618369 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... |
ORPHA:603 |
Spermatogenic Failure 22 |
|
Non-obstructive azoospermia, Male infertility, Cryptozoospermia |
OMIM:617706 |
Welander Distal Myopathy |
|
Steppage gait, Distal amyotrophy, Distal muscle weakness, Rimmed vacuoles |
OMIM:604454 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Proximal muscle weakness, Ragged-red muscle fibers, ... |
OMIM:616239 |
Zebra Body Myopathy |
|
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... |
ORPHA:97240 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Progressive muscle weakness, Gowers sign, Peroneal muscle weakness, Proximal muscle weakness |
OMIM:611588 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Skeletal muscle atrophy, Ata... |
OMIM:617193 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... |
OMIM:601382 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Small for gestational age, Simplified gyral pattern,... |
OMIM:615095 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Dista... |
OMIM:618387 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Decreased circulating IgG2 level |
OMIM:300076 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spermatogenic Failure 8 |
|
Azoospermia, Cryptozoospermia, Oligozoospermia |
OMIM:613957 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Clonus, Demyelinating motor neuropathy, Ragged-red muscle fibers, Abnorm... |
OMIM:616479 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Ane Syndrome |
|
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Hypogonadotropic hypog... |
ORPHA:157954 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Proximal muscle weakness, Progressive muscle weakness, Generalized muscle w... |
OMIM:620249 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... |
OMIM:254110 |
Spermatogenic Failure 6 |
|
Globozoospermia, Decreased acrosin in sperm head, Male infertility |
OMIM:102530 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal muscle weakness, Fatty re... |
ORPHA:266 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Distal muscle weakness, Facial palsy, ... |
OMIM:160500 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Generalized muscle weakness, Opt... |
OMIM:256600 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Peripheral axonal neuropathy,... |
OMIM:218000 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Simplified gyral pattern |
OMIM:618328 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Progressive external ophthalmoplegia, Bulbar palsy, Distal muscle weakness, Respiratory insuffici... |
ORPHA:254875 |
Arts Syndrome |
|
Progressive muscle weakness, Spinal cord posterior columns myelin loss |
OMIM:301835 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Overweight, Hyperkinetic movements... |
ORPHA:457240 |
Myopathy, Myofibrillar, 5 |
|
Waddling gait, Proximal muscle weakness, Abnormal peripheral nervous system morphology, Muscle fi... |
OMIM:609524 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Neck flexor weakness, Facial p... |
OMIM:616209 |
Spermatogenic Failure 29 |
|
Non-obstructive azoospermia, Male infertility, Immotile sperm |
OMIM:618091 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Scapular winging, Poor head control, Distal muscle weakness, Facial palsy, Abnorma... |
ORPHA:353327 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor,... |
ORPHA:97229 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Lower limb muscle we... |
OMIM:620389 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... |
DECIPHER:59 |
Amish Nemaline Myopathy |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness |
ORPHA:98902 |
Duchenne Muscular Dystrophy |
|
Progressive muscle weakness, Proximal muscle weakness |
ORPHA:98896 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Progressive muscle weakness, Gowers sign, Generalized muscle weakness, Lower limb muscle weakness |
OMIM:620285 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Increased mitochondrial number, Neck flexor weakness, Ra... |
ORPHA:457050 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Gait ataxia, Steppage gait, Muscle fiber necro... |
OMIM:258450 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Gliosis, Abn... |
OMIM:614498 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Centrally nucleated ... |
ORPHA:401768 |
Distal Myotilinopathy |
|
Progressive proximal muscle weakness, Progressive distal muscle weakness |
ORPHA:98911 |
Leigh Syndrome |
|
Ataxia, Ophthalmoplegia, Optic atrophy, Hepatocellular necrosis, Gliosis, Dystonia, CNS demyelina... |
OMIM:256000 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Truncal titubation, Babins... |
OMIM:610532 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Dysmetria, Foot dorsiflexor weakness, Ophthalmoplegia, Neck muscle weakness, Oculomotor apraxia, ... |
ORPHA:171629 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Difficulty walking... |
OMIM:608634 |
Diabetes Insipidus, Neurohypophyseal |
|
Short nose, Decreased circulating osteocalcin level, Gliosis, Central diabetes insipidus |
OMIM:125700 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Allan-Herndon-Dudley Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Abnormal pyramidal sign, Choreoathetosis, Decreased... |
ORPHA:59 |
Spastic Ataxia 5, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Dysd... |
OMIM:614487 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Cerebral atrophy, Abnormal... |
ORPHA:1320 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Distal mus... |
OMIM:270550 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Decreased number of peripheral mye... |
OMIM:607250 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Infertility, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor,... |
ORPHA:330050 |
Myasthenic Syndrome, Congenital, 12 |
|
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... |
OMIM:610542 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Proximal muscle weakness, Progressive muscle weakness, Cere... |
OMIM:609286 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Spermatogenic Failure 9 |
|
Globozoospermia, Male infertility |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Globozoospermia, Male infertility |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Globozoospermia, Male infertility |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Globozoospermia, Male infertility |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Globozoospermia, Male infertility |
OMIM:619799 |
Spermatogenic Failure 38 |
|
Male infertility, Abnormal axonemal organization of respiratory motile cilia, Oligozoospermia, Co... |
OMIM:618433 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Neck flexor weakness, Progressive muscle weakness, Ragged-red muscle fib... |
OMIM:157640 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, External ophtha... |
ORPHA:254886 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Small for gestational age, Flexion contracture, Left ventricular hypertrophy, Peripheral demyelin... |
OMIM:616733 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally n... |
OMIM:608358 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Paraplegia, Peripheral demyelination, Myelitis |
ORPHA:71211 |
Lissencephaly, X-Linked, 2 |
|
Wide nasal bridge, Micropenis, Lissencephaly, Gliosis, Ambiguous genitalia, Spasticity, Pachygyri... |
OMIM:300215 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Flexion contracture, Hypertonia, Pro... |
ORPHA:137898 |
Metachromatic Leukodystrophy |
|
Bulbar palsy, Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, ... |
OMIM:250100 |
Pontocerebellar Hypoplasia, Type 4 |
|
Congenital contracture, Hypertonia, Gliosis, Myoclonus, Spasticity |
OMIM:225753 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Foot dorsiflexor weakness, Peroneal muscle atrophy, Scapuloperoneal weakness, Z-band streaming, W... |
OMIM:181400 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness |
OMIM:619024 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Thenar muscle atrophy, Tremor,... |
OMIM:118300 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Progressive external ophthalmoplegia, Dystoni... |
OMIM:208920 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Male infertility, Immotile sperm |
OMIM:608653 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Cryptorchidism, Babinski sign, Spastic tetrapl... |
OMIM:619847 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Pachygyria, Wide nasal bridge, Gliosis, Spasti... |
ORPHA:168486 |
Myopathy And Diabetes Mellitus |
|
Progressive proximal muscle weakness, Shoulder girdle muscle weakness, Weakness of orbicularis oc... |
ORPHA:2596 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Distal lower limb amyotrophy, Distal muscle weakness, Claw hand deformity, Axonal loss, Distal up... |
OMIM:614455 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Inability to walk, Cerebellar gliosis, Flexion contracture, Ce... |
ORPHA:79243 |
Autosomal Recessive Centronuclear Myopathy |
|
Facial palsy, Progressive muscle weakness, Gowers sign, Ophthalmoplegia, Ophthalmoparesis, Facial... |
ORPHA:169186 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Gonadal dysgenesis, Hypergonadotropic hyp... |
OMIM:607080 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Optic disc pallor, Babinski sign, Abnormal pyramidal sign, Optic atrophy, Spa... |
ORPHA:99013 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Elevated hepatic transaminase, Peripheral axonal neuro... |
ORPHA:298 |
Familial Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Choreoathetosis, Upper limb muscle weakness, Hypertonia, Atrophy/Degeneration involv... |
ORPHA:225154 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination, Dystonia |
OMIM:250850 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Proximal muscle weakness, Rigidi... |
OMIM:161800 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, External ophthalmoplegia, Babinski sign, Unsteady gait, Limb ataxia, ... |
OMIM:615768 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... |
OMIM:158590 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... |
OMIM:300816 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy,... |
OMIM:128100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Proximal muscle weakness, Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal... |
OMIM:618848 |
Congenital Myopathy 10A, Severe Variant |
|
Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of finge... |
OMIM:614399 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Generalized dystoni... |
OMIM:614298 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Cryptorchidism,... |
OMIM:618823 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Ragged-red muscle fibers,... |
OMIM:500003 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis... |
OMIM:607458 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g... |
ORPHA:171439 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Poor head control, Facial pals... |
OMIM:617519 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... |
OMIM:607225 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Small scrotum, Flexion cont... |
ORPHA:98905 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Distal muscle weakness, Ataxia, Tremor, Limb ataxia, Gait ataxia, M... |
OMIM:615957 |
Congenital Myopathy 23 |
|
Waddling gait, Skeletal muscle atrophy, Scapular winging, Gowers sign, Flexion contracture, Facia... |
OMIM:609285 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... |
ORPHA:254930 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Limb-girdle muscle weakness, Progressive proximal muscle weakness, Gowers sign, Generalized muscl... |
ORPHA:254361 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... |
OMIM:608099 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Distal upper limb muscle weakness, Muscle fiber splitting, Weakness ... |
OMIM:617030 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... |
OMIM:619473 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, ... |
ORPHA:464282 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Neuronal loss in central nervous system, Gliosis, Cerebral atrophy |
OMIM:604218 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Respiratory insufficiency due to muscle weakness, Progressive external ophthalmoplegia, Progressi... |
ORPHA:663 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Oligozoospermia, Abnormal circulating testosterone... |
OMIM:108420 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Decreased compound muscle action potentia... |
OMIM:603511 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Myopathy, Myofibrillar, 2 |
|
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... |
OMIM:608810 |
Progressive Supranuclear Palsy |
|
Abnormal synaptic transmission, Gliosis, Supranuclear ophthalmoplegia, Neuronal loss in central n... |
ORPHA:683 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Abdominal wall muscle weakness, Centra... |
OMIM:619733 |
Tangier Disease |
|
Hepatomegaly, Peripheral axonal neuropathy, Splenomegaly, Facial diplegia, Distal amyotrophy, Lef... |
OMIM:205400 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Progressive muscle weakness, Muscle weakness, Proximal muscle weakness |
OMIM:620166 |
Mitochondrial Myopathy, Infantile, Transient |
|
Hepatomegaly, Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle f... |
OMIM:500009 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Progressive muscle weakness |
OMIM:605355 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... |
ORPHA:598 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Facial palsy, Pro... |
OMIM:256850 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607831 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Axonal loss, Gliosis, Hepatomegaly, Micronodular cirrho... |
ORPHA:404454 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Elevated hepatic transaminase, Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gai... |
OMIM:612937 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Waddling gait, Lower limb muscle weakness, Proximal muscle weakness, Ragged-red muscle fibers, Ba... |
OMIM:616924 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Poor head control, Facial palsy, Ophthalmoplegia, Flexion contracture, K... |
OMIM:616313 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Progressive muscle weakness, Cerebellar cortical atrophy |
OMIM:248800 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Bulbar palsy, Tremor, Decreased fertility, Calf muscle hypertrophy, Fasciculations, Limb muscle w... |
OMIM:313200 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Distal muscle weakness, Corpus callosum atrophy, Hoffmann ... |
OMIM:601162 |
Charcot-Marie-Tooth Disease Type 1B |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Decreased nerve conduction velocity, Skele... |
ORPHA:101082 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Increased endomysial connecti... |
ORPHA:75840 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity, Muscle weakness |
OMIM:545000 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Intrinsic hand muscle atrophy, Dystonia, Abnormal posturing |
OMIM:304700 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Wide nasal bridge, Spasticity, Cerebral c... |
OMIM:300983 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Cerebral cortical a... |
ORPHA:401830 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Abnormal circulati... |
OMIM:620103 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... |
ORPHA:320406 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Gliosis, Leukodyst... |
ORPHA:506 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Scapular winging, Proximal muscle weakness, Angulated muscle fibers, Shoulder girdle muscle weakn... |
OMIM:619477 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Tremor, Fatiguable weakness of proximal limb muscles, Inability to walk, Abnormality of the seven... |
ORPHA:90117 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... |
ORPHA:424107 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Progressive external ophthalmoplegia, Dist... |
OMIM:617070 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hepatomegaly, Cerebral atrophy, Myopathy, Gliosis, Brain atrophy, Limb dyston... |
OMIM:604377 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Dystonia, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Bab... |
OMIM:607694 |
Adducted Thumbs Syndrome |
|
Myopathy, Myelin-dependent gliosis, Arthrogryposis multiplex congenita, Cerebral dysmyelination |
OMIM:201550 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Skeletal muscle atrophy, Hepatomegaly, Distal muscle weakness, Hepatic bridging fibrosis, Tremor,... |
OMIM:616719 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Dystonia, Tremor, Babinski sign, Spastic paraplegia, Limb ... |
ORPHA:251282 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Weight loss, Opis... |
ORPHA:216866 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Progressive muscle weakness, Gowers sign, Muscle weakness |
OMIM:600462 |
Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Ophthalmoplegia, Babinski sign, Optic atrophy, Flexion contracture, Ragged-red ... |
OMIM:252011 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Hypothyroidism, Ataxia, Parkinsonism, Dist... |
ORPHA:909 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Poor head control, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, ... |
ORPHA:442835 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ... |
OMIM:605637 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Distal muscle weakness, Proximal muscle weakness, Rimmed vacuoles |
OMIM:147421 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Scapular winging, Abnormality of the musculature of the lower limbs, Distal muscle weakness, Park... |
ORPHA:329478 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Gow... |
OMIM:609560 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... |
OMIM:618654 |
Infantile Refsum Disease |
|
Progressive muscle weakness, Facial palsy |
ORPHA:772 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Merrf |
|
Myopathy, Ragged-red muscle fibers, Optic atrophy, Ataxia |
ORPHA:551 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra... |
OMIM:617760 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Dysmetria, Hypothyroidism, Hepatomegaly, Ataxia, Facia... |
ORPHA:456312 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overw... |
ORPHA:486815 |
Congenital Myopathy 3 With Rigid Spine |
|
Poor head control, Neck flexor weakness, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:602771 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... |
OMIM:610131 |
Isolated Follicle Stimulating Hormone Deficiency |
|
Hyperplasia of the Leydig cells, Decreased serum testosterone concentration, Decreased female lib... |
ORPHA:52901 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis |
OMIM:613002 |
4H Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Decreased response to growth hormone stimulation test, Hypo... |
ORPHA:289494 |
Ataxia-Telangiectasia |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Polycy... |
ORPHA:100 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... |
OMIM:162400 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis, Hepatic steatosis |
OMIM:615119 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Decreased numbe... |
ORPHA:99949 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Hepatomegaly, Corpus callosum atrophy, Splenomegaly, Delayed myelination, Bab... |
OMIM:248500 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Abdominal wall muscle weakness, Centrally nucleated skeletal muscl... |
OMIM:615424 |
Myopathy, Distal, 3 |
|
Distal muscle weakness, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-on... |
OMIM:610099 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gai... |
ORPHA:521406 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... |
OMIM:617916 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... |
ORPHA:216873 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, ... |
OMIM:618484 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Cerebral... |
OMIM:611302 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Acute pan... |
ORPHA:26791 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... |
OMIM:608930 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Decreased nerve conduction velocity, Tre... |
ORPHA:101078 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Progressive muscle weakness, Neurodegeneration, Muscle weakness |
OMIM:615919 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... |
OMIM:601462 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Axonal degeneratio... |
OMIM:620011 |
Bethlem Myopathy |
|
Reduced maximal expiratory pressure, Distal muscle weakness, Limb-girdle muscle weakness, Gowers ... |
ORPHA:610 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Absent inner dynein arms, Coiled sperm flagella, Reduced sperm motility, Short ... |
OMIM:620356 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Ragged-red muscle fibers, Babinski sign, Myopathy, Leukodystrophy, Difficulty walking, Sp... |
OMIM:618242 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Respiratory insufficiency due to muscle weakness, Generalized muscle weakn... |
OMIM:603034 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Facial hypotonia, Tremor, Babinski sign, Spastic ... |
OMIM:300055 |
Oculopharyngodistal Myopathy 2 |
|
Bulbar palsy, Distal muscle weakness, Fatty replacement of skeletal muscle, External ophthalmople... |
OMIM:618940 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-... |
OMIM:619178 |
Congenital Myopathy 14 |
|
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... |
OMIM:618414 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... |
ORPHA:79139 |
Myasthenic Syndrome, Congenital, 14 |
|
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... |
OMIM:616228 |
Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... |
OMIM:603689 |
Pontocerebellar Hypoplasia, Type 2A |
|
Chorea, Optic atrophy, Opisthotonus, Congenital contracture, Gliosis, Extrapyramidal dyskinesia, ... |
OMIM:277470 |
Muscle Filaminopathy |
|
Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormality of mast... |
ORPHA:171445 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Poor head control, Ankle flexion contracture, Decreased nerve conduction velocit... |
ORPHA:319514 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... |
ORPHA:488650 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, Abnormal pyramidal sign, Gait ataxia, Spastic dysarthria, Progressive extrapyrami... |
ORPHA:282166 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Distal lower limb amyotrophy, Hypospadias, Tremor, Cryptorchidism, Simplified gyral pattern, Gait... |
OMIM:300354 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Tremor, Distal upper limb amyotrophy, Gait disturbance, Abn... |
ORPHA:101075 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Waddling gait, Scapular winging, Calf muscle pseudohypertrophy, Neck flexor weakness, Broad-based... |
ORPHA:353 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Bifid scrotum, Clonus, Hypertonia, Leukodystrophy, Micropenis, Hepatic steatosis, Intention tremo... |
OMIM:619475 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle... |
ORPHA:255210 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
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Broad-based gait, Spastic tetraparesis, Tremor, Optic atrophy, Simplified gyral pattern, Elbow fl... |
OMIM:619470 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Decreased miniature endplate potentials, Neck flexor weakness, Facial pa... |
ORPHA:98913 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Hyper... |
OMIM:252160 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Increase... |
OMIM:613204 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
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Skeletal muscle atrophy, Scapular winging, Proximal muscle weakness, Scapuloperoneal weakness, Ac... |
OMIM:300696 |
Congenital Fiber-Type Disproportion Myopathy |
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Poor head control, Fatigable weakness of bulbar muscles, Progressive muscle weakness, Ophthalmopl... |
ORPHA:2020 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle fibers, Fat... |
OMIM:618129 |
Adult-Onset Nemaline Myopathy |
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Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, Incr... |
ORPHA:171442 |
Hereditary Late-Onset Parkinson Disease |
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Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... |
ORPHA:411602 |
Familial Peripheral Male-Limited Precocious Puberty |
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Male infertility, Precocious puberty, Long penis, Oligozoospermia, Macroorchidism |
ORPHA:3000 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
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Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Generalized muscle weakne... |
ORPHA:34516 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
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Progressive external ophthalmoplegia, Facial palsy, Ragged-red muscle fibers, Generalized muscle ... |
OMIM:609283 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
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Distal muscle weakness, Ataxia, Proximal muscle weakness, Tremor, External ophthalmoplegia, Cereb... |
OMIM:618637 |
Myopathy, Centronuclear, 2 |
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Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Centrally nucleated skelet... |
OMIM:255200 |
Neuropathy, Hereditary Sensory, X-Linked |
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Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Myopathy, Centronuclear, 1 |
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Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
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Waddling gait, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Limb-girdle ... |
ORPHA:86812 |
Hypokalemic Periodic Paralysis |
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Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Adrenocortical adenoma, R... |
ORPHA:681 |
Spinocerebellar Ataxia 40 |
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Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Lead Poisoning |
|
Abnormal sperm morphology, Decreased female libido, Small for gestational age, Distal muscle weak... |
ORPHA:330015 |
Spinocerebellar Ataxia With Epilepsy |
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Acute hepatic failure, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Ophthalmoparesis, Progressi... |
ORPHA:254881 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:620286 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
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Cerebellar atrophy, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Postural tremor, Limb joint co... |
OMIM:301072 |
Kennedy Disease |
|
Skeletal muscle atrophy, Decreased fertility, Gait disturbance, Type II diabetes mellitus, Erecti... |
ORPHA:481 |
Adrenal Hypoplasia, Congenital |
|
Decreased circulating cortisol level, Hypogonadotropic hypogonadism, Adrenal hypoplasia, Precocio... |
OMIM:300200 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Progressive muscle weakness, Diffuse cerebral atrophy |
OMIM:607426 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Optic neuropathy, Tib... |
ORPHA:320375 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Substantia nigra glios... |
ORPHA:276241 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Poor head control, Dystonia, Ataxia, Increased neuronal autofluorescent lipop... |
ORPHA:79263 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Poor head control, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochoki... |
OMIM:618049 |
Peho Syndrome |
|
Cerebellar atrophy, Pachygyria, Optic atrophy, Myoclonus, Peripheral dysmyelination, Short nose, ... |
OMIM:260565 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Axonal loss, Gliosis, ... |
OMIM:252150 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Hepatomegaly, Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Myoclonus, Tetraparesis,... |
OMIM:615924 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... |
OMIM:618138 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... |
OMIM:117000 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Cap Myopathy |
|
Poor head control, Facial palsy, Abnormal muscle fiber morphology, Fatiguable weakness of proxima... |
ORPHA:171881 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Un... |
OMIM:210000 |
Miyoshi Muscular Dystrophy 1 |
|
Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... |
OMIM:254130 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Parkinsonism, Babinski sign, Ragged-red muscle fibers, Limb ataxia, Gait atax... |
OMIM:610246 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... |
OMIM:608423 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Hand mu... |
ORPHA:99956 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Progressive gait ataxia, Hypertonia, Congenital contracture, Gliosis, In... |
ORPHA:191 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Ragged-red muscle fibers, Dysmetria, Gait ataxia, Progressive gait ataxi... |
OMIM:607459 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Large for gestational age,... |
ORPHA:169189 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
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Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... |
ORPHA:397744 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Gait disturbance, Abnorm... |
ORPHA:99014 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... |
OMIM:620310 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, ... |
ORPHA:363400 |
Myopathy With Extrapyramidal Signs |
|
Elevated hepatic transaminase, Hepatomegaly, Peripheral axonal neuropathy, Ataxia, Clonus, Proxim... |
OMIM:615673 |
Oculopharyngodistal Myopathy 4 |
|
Distal muscle weakness, Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skelet... |
OMIM:619790 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Functioning Gonadotropic Adenoma |
|
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... |
ORPHA:91348 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Skeletal muscle atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, A... |
OMIM:617710 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, CNS demyelination... |
OMIM:610245 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Progressive muscle weakness |
OMIM:619518 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Ataxia, Splenomegaly, Cerebral atrophy, CNS demyelination, Spas... |
OMIM:272200 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flexion contracture, ... |
OMIM:300718 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Gait disturbance, Tetr... |
OMIM:263570 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... |
OMIM:615159 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Progressive external ophthalmoplegia, Proximal muscle ... |
OMIM:617069 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... |
OMIM:608931 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Progressive distal muscular atrophy, Scapular winging, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Ophthalmoplegia, Spastic tetraplegia, Cerebral atrophy, Gai... |
OMIM:618321 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Small for gestational age, Hypospadias, Increased hepatocellular lipid droplets... |
OMIM:220111 |
Spinocerebellar Ataxia 25 |
|
Cerebellar atrophy, Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign... |
OMIM:608703 |
Myotonic Dystrophy 2 |
|
Neck flexor weakness, Proximal muscle weakness, Oligozoospermia, Hypogonadism, Type II diabetes m... |
OMIM:602668 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Optic... |
OMIM:614381 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus... |
OMIM:613662 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Hypergonadotropic hypogonadism, Tremor, Obesity, Primary amenorrhea, Hemipares... |
OMIM:619737 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spinocerebellar Ataxia 32 |
|
Cerebellar atrophy, Ataxia, Azoospermia, Infertility, Testicular atrophy |
OMIM:613909 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type ... |
OMIM:619028 |
Cockayne Syndrome A |
|
Abnormal peripheral myelination, Tremor, Micropenis, Hepatomegaly, Ataxia, Cryptorchidism, Gait d... |
OMIM:216400 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Abnormal pyramidal sign, Dysm... |
OMIM:617145 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Distal amyotrophy, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... |
OMIM:211530 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Proximal muscle weakness, Muscular dystrophy, Loss of ambulation, Increa... |
OMIM:253601 |
Dpm3-Cdg |
|
Elevated hepatic transaminase, Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic... |
ORPHA:263494 |
Congenital Disorder Of Deglycosylation 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Delayed CNS myelination, Facial hypotonia, Involunta... |
OMIM:615273 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... |
OMIM:255320 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Cryptorchidism, Abnormal posturing, Failure to thrive, Cerebral atrophy |
OMIM:614857 |
Poliomyelitis |
|
Skeletal muscle atrophy, Bulbar palsy, Abnormal motor nerve conduction velocity, Paralysis, Hypop... |
ORPHA:2912 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gliosis, Myoclonus, Gait disturbance, Dysto... |
OMIM:168601 |
Spinocerebellar Ataxia Type 32 |
|
Cerebellar atrophy, Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy |
ORPHA:276183 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Hepatomegaly, Decreased muscle mass, Elevated hepatic transaminase, Cerebral ... |
OMIM:261515 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paralysis |
OMIM:612740 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... |
ORPHA:99027 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Respiratory insufficiency du... |
OMIM:617066 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle... |
OMIM:619574 |
East Syndrome |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Inability to walk, Hyperaldosteronism, ... |
ORPHA:199343 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Bulbar palsy, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, R... |
OMIM:255310 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Abnormal cortical gyration, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Fl... |
OMIM:607855 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis |
ORPHA:357225 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
King-Denborough Syndrome |
|
Centrally nucleated skeletal muscle fibers, Bilateral cryptorchidism, Cryptorchidism, Proximal mu... |
OMIM:619542 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Skeletal muscle atrophy, Microvesicular hepatic steatosis, Progressive mus... |
OMIM:256810 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Proximal muscle weakness in lower limbs, Progressive proximal muscle weakness, Distal upper limb ... |
OMIM:620138 |
Choreoacanthocytosis |
|
Caudate atrophy, Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy... |
ORPHA:2388 |
Glutaric Acidemia I |
|
Hepatomegaly, Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Sym... |
OMIM:231670 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... |
OMIM:601846 |
Oculopharyngeal Muscular Dystrophy |
|
Abnormal muscle fiber morphology, Ophthalmoplegia, Ragged-red muscle fibers, Myopathy, Rimmed vac... |
ORPHA:270 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:98863 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Diffuse cerebral atrophy, Involuntary movements, Upper limb postural tremor, Ragged-red muscle fi... |
ORPHA:477774 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficien... |
ORPHA:98853 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ataxia, Proximal muscle weakness, Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Dyst... |
OMIM:618416 |
Myopathy, Distal, Tateyama Type |
|
Neck flexor weakness, Elevated circulating aspartate aminotransferase concentration, Hand muscle ... |
OMIM:614321 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Proximal muscle weakness, Respiratory insu... |
OMIM:254090 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... |
ORPHA:98763 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Copper accumulation in liver, Cerebral atrophy, Gli... |
OMIM:614946 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scapuloperoneal amyotrop... |
OMIM:255160 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Hemiplegia/hemiparesis, Ra... |
ORPHA:480 |
Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency due to muscle weakness, Progressive muscle weakness, Muscle weakness, C... |
OMIM:615512 |
Butyrylcholinesterase Deficiency |
|
Abnormality of the liver, Paralysis |
ORPHA:132 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Cryptorchidism, Flexion contracture, Axial muscle weakness, Arthrogryposis multiplex congenita, I... |
ORPHA:178148 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Hypergonadotropic hypogonadism, Facial ... |
OMIM:615084 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Gowers sign, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle ... |
ORPHA:209335 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Increased circulating AC... |
ORPHA:43 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Decreased mitochondrial number, Hypergo... |
ORPHA:352447 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Abnormality of the liv... |
ORPHA:254892 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Cryptorchidism, Hypertonia, Gait disturbance, Type I diabetes mellitus, Cerebral cortical... |
ORPHA:1192 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory insufficiency due to muscle weakness, Ra... |
OMIM:613561 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Muscle ... |
ORPHA:2593 |
Greig Cephalopolysyndactyly Syndrome |
|
Hypospadias, Abnormal muscle fiber morphology, Cryptorchidism, Wide nasal bridge, Camptodactyly o... |
OMIM:175700 |
Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Periodic paralysis |
OMIM:614198 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Congenital diaphragmatic hernia, Tremor, Cryptorchidism, Wide nasa... |
OMIM:300978 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Hypergonadotropic hypogonadism, Tremor, Hemiparesis, Abnormality of the liver, Spasticity... |
OMIM:614307 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Limb dystonia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral... |
OMIM:601104 |
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Small scrotum, Ataxia,... |
OMIM:308700 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, F... |
OMIM:616494 |
Trigeminal Neuralgia |
|
CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination |
ORPHA:221091 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Hand muscle weakness, Prolonged miniature endplate currents, Axial muscl... |
ORPHA:98915 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Elevated hepatic transaminase, Delayed CNS myelination, Ataxia, Cholangitis, ... |
OMIM:124000 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Waddling gait, Facial palsy, Mitochondrial hypertrophy, Gowers sign, Myopathy, Muscular dystrophy... |
OMIM:602541 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Tremor, Obesity, Shuffling... |
ORPHA:3077 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Jaundice, Optic atr... |
ORPHA:79282 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Distal muscle weakness,... |
ORPHA:477817 |
Ataxia With Vitamin E Deficiency |
|
Skeletal muscle atrophy, Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyra... |
ORPHA:96 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness, Limb-girdle muscle weakness, Pelvic girdle muscle weakness |
ORPHA:79240 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dys... |
OMIM:612438 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Decreased muscle mass, Diabetes mellitus, Hypogonadotropic hypogonadism, Cholangioc... |
ORPHA:465508 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Generalized muscle weakness, Spastic tetraplegia, Hypertonia, Gliosis, Gait disturbance... |
ORPHA:88619 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Ataxia, Cerebral ... |
OMIM:614116 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Poor head control, Nemaline bodies, Generalized muscle weakness, Increased variability in muscle ... |
OMIM:620265 |
Neuromuscular Oculoauditory Syndrome |
|
Poor head control, Periventricular heterotopia, Decreased nerve conduction velocity, Unsteady gai... |
OMIM:618733 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
|
Delayed CNS myelination, Clonus, Flexion contracture, Brain atrophy, Muscle fiber atrophy, Failur... |
OMIM:620240 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... |
OMIM:271225 |
Cockayne Syndrome B |
|
Hepatomegaly, Ataxia, Small for gestational age, Abnormal auditory evoked potentials, Abnormal pe... |
OMIM:133540 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Hy... |
OMIM:617013 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
Abetalipoproteinemia |
|
CNS demyelination, Ataxia, Peripheral demyelination |
OMIM:200100 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Acute hepatic failure, Failure to thrive, Hepatomegaly, Ataxia, Elevated hepa... |
OMIM:203700 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Cerebral atrophy |
ORPHA:369847 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Hepatomegaly, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
ORPHA:254864 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Oligozoo... |
ORPHA:8 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Hyperthyroidism, Proximal muscle weakness, Tremor, Gowers sign, Increased vari... |
ORPHA:502423 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Nemaline ... |
OMIM:617258 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Splenomegaly, Gait apraxia, Optic atroph... |
OMIM:617302 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Hypoplasia of penis, Dystonia, Ataxia, Bila... |
ORPHA:66634 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Poor head control, Small for gestational age, Hypertonia, Myoclonus, Ab... |
ORPHA:289266 |
Gabriele-De Vries Syndrome |
|
Distal lower limb amyotrophy, Waddling gait, Small for gestational age, Decreased response to gro... |
ORPHA:506358 |
Spondylometaphyseal Dysplasia, Axial |
|
Splenomegaly, Optic atrophy, Reduced sperm motility |
OMIM:602271 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Waddling gait, Proximal muscle weakness, Chorea, Myo... |
ORPHA:369840 |
Congenital Myopathy 15 |
|
Waddling gait, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability ... |
OMIM:620161 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to ... |
OMIM:618877 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Babinski sign, Di... |
OMIM:500013 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Gowers sign, Flexion contracture, Muscle ... |
OMIM:253700 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Vocal cord paralysis, Abnormal pyr... |
ORPHA:98757 |
Congenital Myasthenic Syndrome |
|
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Bulbar palsy, Poor head control, Ataxia, Proximal muscle weakness, Intermittent ep... |
ORPHA:98914 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contrac... |
ORPHA:98855 |
X-Linked Centronuclear Myopathy |
|
Weakness of facial musculature, Centrally nucleated skeletal muscle fibers, Fatigable weakness of... |
ORPHA:596 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Kallmann Syndrome With Spastic Paraplegia |
|
Eunuchoid habitus, Hypothalamic gonadotropin-releasing hormone deficiency, Ataxia, Hypogonadotrop... |
OMIM:308750 |
Myopathy, Centronuclear, 4 |
|
Frequent falls, Muscle weakness, Type 1 muscle fiber predominance, Centrally nucleated skeletal m... |
OMIM:614807 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Hip contracture, Hepatomegaly, Large for gestational age, Microvesicular h... |
OMIM:300868 |
Myotonic Dystrophy 1 |
|
Cerebral atrophy, Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy, Muscle weakness |
OMIM:160900 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Ext... |
OMIM:620351 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Decreased response to growth hormone stimulation test, Premature thelarche, Hypertonia, Gliosis, ... |
ORPHA:268261 |
Familial Cervical Artery Dissection |
|
Diabetes mellitus, Facial palsy, Paralysis |
ORPHA:36382 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... |
OMIM:300559 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hyp... |
ORPHA:70594 |
Typical Nemaline Myopathy |
|
Waddling gait, Neck flexor weakness, Facial palsy, Fatigable weakness of distal limb muscles, Fat... |
ORPHA:171436 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... |
OMIM:613530 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypoplasia of penis, Ataxia,... |
ORPHA:478 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Limb ataxia, Dysmetria, Primary amenorrhea, D... |
OMIM:617675 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Tbck-Related Intellectual Disability Syndrome |
|
Progressive muscle weakness, Global brain atrophy |
ORPHA:488632 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Decreased response to growth hormone stimulation t... |
ORPHA:273 |
Oculopharyngodistal Myopathy 1 |
|
Distal muscle weakness, Ataxia, Facial palsy, Autophagic vacuoles, Proximal muscle weakness, Trem... |
OMIM:164310 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Melas |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Hypothyroidism, Hypoparathyroid... |
ORPHA:550 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle... |
OMIM:620235 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... |
ORPHA:95699 |
Central Core Disease |
|
Multiple joint contractures, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, M... |
ORPHA:597 |
Hypotonia-Cystinuria Syndrome |
|
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... |
OMIM:606407 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Hepatomegaly, Primary testicular failure, Weight loss, Oligozoospermia, Myopath... |
ORPHA:85450 |
Thyrotoxic Periodic Paralysis |
|
Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysis, Tremor, Abnormal mus... |
ORPHA:79102 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Hepatomegaly, Dystonia, Ataxia, Elevated hepatic transaminase... |
OMIM:615356 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Proximal ... |
OMIM:612999 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormality of the liver, Hypertonia, Hepatomegaly, Portal hypertension, Micronodular cirrhosis, ... |
ORPHA:309854 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Poor head control, Dystonia, Abnormality of coordination, Ataxia, Parkinsonism, Spastic tetrapare... |
ORPHA:352649 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Poor motor coordination, Tremor, Ophthalmop... |
ORPHA:1170 |
Congenital Myopathy 18 |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... |
OMIM:620246 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Abnorm... |
ORPHA:3068 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Elevated hepatic transaminase, Incoordination, Facial pa... |
ORPHA:297 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Hypothyroidism, Optic atrophy, Cerebral at... |
OMIM:222300 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Progressive muscle weakness |
ORPHA:264580 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Progressive proximal muscle weakness, Muscle weakness |
ORPHA:368 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul... |
OMIM:617114 |
Sialidosis Type 1 |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Splenomegaly, Slurr... |
ORPHA:812 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Intermittent episode... |
ORPHA:324604 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Slurred speech, Ophthalmo... |
ORPHA:1349 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Opt... |
OMIM:617988 |
Neutral Lipid Storage Myopathy |
|
Hand muscle weakness, Fatty replacement of skeletal muscle, Gowers sign, Pineal cyst, Cholecystit... |
ORPHA:98908 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Delayed CNS myelination, Poor head control, Elevated circulating aspartate aminotra... |
OMIM:614924 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Skeletal muscle atrophy, Corpus callosum atrophy, Tremor, Babinski sign, Spastic paraplegia, Tetr... |
OMIM:616586 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Jaundice, Gliosis, Hepatic periportal necrosis, Pachygyria, Hepatic steatosis, Musc... |
OMIM:231680 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Calf muscle pseudohypertrophy, Diabetes mellitus, Dysmenorrhea, Maternal diabetes, ... |
ORPHA:79083 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Generalized muscle weakness, Increased variability in... |
OMIM:611705 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
|
Diabetes mellitus, Ophthalmoplegia, Ragged-red muscle fibers, Hemiparesis, Myopathy, Left ventric... |
OMIM:540000 |
Snakebite Envenomation |
|
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Muscle fiber necrosis, Respiratory paralysis, ... |
ORPHA:449285 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Kleefstra Syndrome Due To A Point Mutation |
|
Precocious puberty, Failure to thrive, Gliosis, Large for gestational age |
ORPHA:261652 |
Pituitary Dermoid And Epidermoid Cysts |
|
Enlarged pituitary gland, Abnormal central motor function, Neoplasm of the anterior pituitary, Ge... |
ORPHA:91351 |
Hemochromatosis, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Hypogonadotropic hypogonadism, Sp... |
OMIM:235200 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Ciliary Dyskinesia, Primary, 41 |
|
Infertility, Immotile sperm |
OMIM:618449 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Poor head control, Spastic tetraparesis, Paralysis, Chorea, Abnorma... |
OMIM:272750 |
Nphp3-Related Meckel-Like Syndrome |
|
Abnormality of the pancreas, Abnormal biliary tract morphology, Abnormal liver parenchyma morphology |
ORPHA:3032 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Skeletal muscle atrophy, Cerebral palsy, Flexion contracture, Op... |
ORPHA:682 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Gray matter heterotopia, Dysgyria, Abnormal myelination, Type II lissencephaly |
ORPHA:352682 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Hand muscle weakness, Tremor, Atrophy of the ... |
ORPHA:99965 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Gowers sign, Flexion contracture, Proximal muscle weakness in lower limb... |
OMIM:310440 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemi... |
ORPHA:217260 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
African Trypanosomiasis |
|
Tremor, Choreoathetosis, Papilledema, Hepatomegaly, Abnormal central motor function, Paralysis, A... |
ORPHA:3385 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Poor head control, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, ... |
ORPHA:572798 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory insufficiency due to muscle weakness, Gowers sign, Progressive proximal muscle weakne... |
ORPHA:365 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... |
OMIM:616812 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal neuropathy, Dyst... |
OMIM:606002 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Fasciculations, Wide nasal bridge, Centrally nucleat... |
ORPHA:324581 |
Torticollis, Keloids, Cryptorchidism, And Renal Dysplasia |
|
Cryptorchidism, Torticollis, Oligozoospermia |
OMIM:314300 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness |
OMIM:159050 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism,... |
OMIM:620327 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Muscle weakness, Abnormal muscle fiber protein expression |
ORPHA:330054 |
Myotubular Myopathy With Abnormal Genital Development |
|
Bifid scrotum, Unilateral cryptorchidism, Hypospadias, Centrally nucleated skeletal muscle fibers... |
OMIM:300219 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... |
OMIM:606693 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Skeletal muscle atrophy, Delayed CNS myelination, Elevated hepatic transamina... |
OMIM:615471 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Musc... |
OMIM:613157 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... |
OMIM:615959 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Intercostal muscle weakness, Inability to wa... |
ORPHA:258 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Hypospadias... |
OMIM:252010 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... |
OMIM:617072 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Abnormal mitochondrial shap... |
ORPHA:17 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Ataxia, Tremor, Rhabdomyolysis, Cholestatic ... |
ORPHA:79095 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy, Periodic paralysis |
OMIM:613345 |
Hypogonadism, Male |
|
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias |
OMIM:241100 |
Helsmoortel-Van Der Aa Syndrome |
|
Poor head control, Facial palsy, Decreased response to growth hormone stimulation test, Cryptorch... |
OMIM:615873 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Decreased thyroid-stimulating hormone level, Hyperthyroidism, Increased circulating free T4 conce... |
OMIM:613239 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... |
ORPHA:268882 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Skeletal muscle atrophy, Increased mitochondrial number, Dysmetria |
OMIM:615578 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Carney Complex |
|
Hepatocellular carcinoma, Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, ... |
ORPHA:1359 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hyperthyroidism, Periodic paralysis, Rhabdomyolysis, Weight loss, Muscle weakness, Goiter |
OMIM:188580 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Parkinsonism, Temporal cortical atrophy, Astrocytosis, Fr... |
ORPHA:100070 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Absent inner dynein arms, Abnormal axonemal organization of respiratory motile ... |
OMIM:613807 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Neuronal loss in central nervous system, Gliosis, Cerebral cortical atrophy |
OMIM:607485 |
Gapo Syndrome |
|
Dysmenorrhea, Optic atrophy, Oligozoospermia, Hypogonadism, Amenorrhea |
ORPHA:2067 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Dysmenorrhea, Splenomegaly, Abnormality of skeletal muscle fiber... |
ORPHA:2348 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogonadism, Period... |
ORPHA:91347 |
Aarskog-Scott Syndrome |
|
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Shawl s... |
OMIM:305400 |
Cockayne Syndrome Type 1 |
|
Elevated hepatic transaminase, Absent brainstem auditory responses, Lower limb spasticity, Hepato... |
ORPHA:90321 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Absent inner dynein arms, Absent outer dynein arms, Immotile sperm, Abdominal s... |
OMIM:614874 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Abnormality of the diaphragm, Testicular atrophy, Congenital diaphragmatic hernia |
OMIM:601163 |
Unilateral Polymicrogyria |
|
Poor head control, Involuntary movements, Perisylvian polymicrogyria, Spastic tetraplegia, Hemipa... |
ORPHA:268943 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Central nervous system degeneration, Progressive proximal muscle weakness, Shoulder girdle muscle... |
ORPHA:98907 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Hepatomegaly, Ataxia, Tremor, Splenomegaly, Hypogonadism, Decreased serum testosterone concentrat... |
OMIM:201100 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Hepatomegaly, Poor head control, Elevated circulating aspartate aminotransferase concentration, M... |
OMIM:615595 |
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis |
|
Waddling gait, Diabetes mellitus, Small for gestational age, Oligozoospermia, Clitoral hypoplasia... |
OMIM:614813 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Bilateral cryptorchidism, Wide nasal bridge, Micropenis, Gliosis, Camptodactyly, Joint contractur... |
OMIM:617403 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Absent central microtubular pair morphology of respiratory motile cilia, Immoti... |
OMIM:617091 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Ankle clonus, Gliosis, Falls, Difficulty walking, Dystonia |
OMIM:618222 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Centrally nucleated skeletal muscle fibers, Proximal... |
OMIM:613327 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... |
ORPHA:94080 |
Multiple System Atrophy 1, Susceptibility To |
|
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... |
OMIM:146500 |
Hepatoportal Sclerosis |
|
Elevated hepatic transaminase, Portal hypertension, Nodular regenerative hyperplasia of liver, Po... |
ORPHA:64743 |
Aceruloplasminemia |
|
Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Ri... |
ORPHA:48818 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Broad-based gait, Cachexia, Paralysis, Abnormality of the spleen, Splenomegaly, Spas... |
ORPHA:2072 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis |
OMIM:606688 |
Immune-Mediated Necrotizing Myopathy |
|
Skeletal muscle atrophy, Scapular winging, Myositis, Fatiguable weakness of proximal limb muscles... |
ORPHA:206569 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Hepatic steatosis, Hepatomegaly, Premature ovarian insufficiency, Ataxia, Hyp... |
OMIM:212065 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Peripheral axonal neuropathy, Spinal muscular atrophy, Flexion contracture, Increased variability... |
OMIM:616866 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Exaggerated startle response, Clonus, Optic nerve hypoplasia, Tremor, Delayed my... |
OMIM:615574 |
Ciliary Dyskinesia, Primary, 12 |
|
Reduced sperm motility, Immotile sperm, Abnormal central microtubular pair morphology of respirat... |
OMIM:612650 |
Vici Syndrome |
|
Myopathy, Gray matter heterotopia, Abnormal thymus morphology, Left ventricular hypertrophy, Abno... |
OMIM:242840 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormality of the spleen, Abnormal mesentery morphology,... |
ORPHA:93941 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
Ciliary Dyskinesia, Primary, 26 |
|
Absent outer dynein arms, Infertility, Reduced sperm motility |
OMIM:615500 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Proximal muscle weakness, Ragged-red muscle fibers, Gait ataxia, Ophthalmoparesis, Atrophy/Degene... |
ORPHA:70595 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Absent vas deferens, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Cerebellar atrophy, Ataxia, Dysdiadochokinesis, Hyperaldosteronism, Increased circulating renin l... |
OMIM:612780 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Generalized muscle weakness, Hand tremor, Periodic paralysis |
OMIM:609153 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Small for gestational age, Nephrogenic diabe... |
OMIM:208085 |
Alexander Disease |
|
Diabetes mellitus, Ataxia, Facial palsy, Clonus, Tremor, Precocious puberty, Chorea, Abnormal pyr... |
ORPHA:58 |
Polymyositis |
|
Hepatomegaly, Abnormal muscle fiber morphology, Proximal muscle weakness, Weight loss, Gait distu... |
ORPHA:732 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Abnormality of the liver, Leuko... |
ORPHA:646 |
Ciliary Dyskinesia, Primary, 46 |
|
Reduced sperm motility |
OMIM:619436 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Medullary Thyroid Carcinoma |
|
Primary hyperparathyroidism, Weight loss, Abnormal liver parenchyma morphology, Pheochromocytoma,... |
ORPHA:1332 |
Glioblastoma |
|
Glioblastoma multiforme, Muscle weakness, Paralysis |
ORPHA:360 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, Left ven... |
OMIM:615418 |
Joubert Syndrome With Hepatic Defect |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Portal hypertension, Tremor, Congenital hepa... |
ORPHA:1454 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... |
ORPHA:2821 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Tremor, Rigidity, Bradykines... |
OMIM:613280 |
Ciliary Dyskinesia, Primary, 11 |
|
Reduced sperm motility, Abnormal central microtubular pair morphology of respiratory motile cilia |
OMIM:612649 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Cerebral atrophy, Dysmetria, Titubation |
OMIM:619405 |
Mosaic Trisomy 9 |
|
Hypoplasia of penis, Camptodactyly of finger, Spina bifida, Asplenia, Cryptorchidism, Abnormal li... |
ORPHA:99776 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Rhabdomyolysis, Generalized muscle weakness, Increased circulating renin level... |
OMIM:263800 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Bohring-Opitz Syndrome |
|
Delayed peripheral myelination, Supernumerary nipple, Hyperechogenic pancreas, Flexion contractur... |
OMIM:605039 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Monosomy 18Q |
|
Astrocytoma, Bilateral cryptorchidism, Hypothyroidism, Poor coordination, Choreoathetosis, Abnorm... |
ORPHA:1600 |
Diets-Jongmans Syndrome |
|
Cryptorchidism, Hypospadias, Gliosis, Congenital diaphragmatic hernia |
OMIM:618846 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Decreased muscle mass, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Ataxia, ... |
OMIM:234200 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Delayed CNS myelination, Facial hypotonia, Tremor, Cryptorchidism, Distal arthrogr... |
OMIM:617557 |
Lesch-Nyhan Syndrome |
|
Poor head control, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, D... |
OMIM:300322 |
Wilson Disease |
|
Acute hepatic failure, Hepatocellular carcinoma, Tremor, Hand tremor, Limb dystonia, Hepatic stea... |
OMIM:277900 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Tremor, Babinski si... |
ORPHA:447753 |
Overlap Myositis |
|
Elevated hepatic transaminase, Proximal muscle weakness in upper limbs, Diabetes mellitus, Proxim... |
ORPHA:206572 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis |
ORPHA:684 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Female hypogonadism, Dystonia, Tremor, Inability to walk, Slurred spee... |
OMIM:208900 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Abnormal auto... |
ORPHA:2828 |
Native American Myopathy |
|
Skeletal muscle atrophy, Cryptorchidism, Abnormality of skeletal muscle fiber size, Inability to ... |
ORPHA:168572 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Hepatomegaly, Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively... |
OMIM:619424 |
Bloom Syndrome |
|
Male infertility, Diabetes mellitus, Small for gestational age, Premature ovarian insufficiency, ... |
ORPHA:125 |
Kearns-Sayre Syndrome |
|
Hypoparathyroidism, Progressive external ophthalmoplegia, Diabetes mellitus, Ataxia, Ragged-red m... |
OMIM:530000 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Congenital diaphragmatic hernia, Large for gestational age, Tremor, Cerebral ... |
OMIM:614080 |
Ciliary Dyskinesia, Primary, 15 |
|
Abnormal axonemal organization of respiratory motile cilia, Infertility, Immotile sperm |
OMIM:613808 |
Aicardi-Goutières Syndrome |
|
Myositis, Multiple joint contractures, Tremor, Abnormal pyramidal sign, Hypertonia, Leukodystroph... |
ORPHA:51 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Poor head control, Tremor, Precocious puberty, Dela... |
ORPHA:1934 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Peripheral axonal neuropathy, Decreased muscle mass, Generalized muscle weakness, Elbow flexion c... |
ORPHA:1900 |
Papillorenal Syndrome |
|
Optic disc coloboma, Gliosis |
OMIM:120330 |
Cockayne Syndrome Type 3 |
|
Elevated hepatic transaminase, Optic disc pallor, Peripheral axonal neuropathy, Skeletal muscle a... |
ORPHA:90324 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis, Abnormal autonomic nervous system physiology, Hypothyroidism, Hashimoto thyroiditis, G... |
ORPHA:83601 |
Ciliary Dyskinesia, Primary, 22 |
|
Reduced sperm motility, Infertility, Absent inner and outer dynein arms |
OMIM:615444 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal muscle weakness, Ambiguous genitalia, female, Proximal amyotrophy, Bicornuate uterus, Mu... |
OMIM:606408 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased nerve conduction velocity, Decreased sensory nerve conduction velocity, Decreased numbe... |
OMIM:201300 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Cerebral cortical atrop... |
ORPHA:1020 |
Chediak-Higashi Syndrome |
|
Hepatomegaly, Ataxia, Decreased nerve conduction velocity, Tremor, Splenomegaly, Jaundice, Neurod... |
OMIM:214500 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Wide nasal bridge, Episodic flaccid weakness... |
ORPHA:37553 |
Tetrasomy 9P |
|
Absent gallbladder, Myositis, Cryptorchidism, Abnormal spinal cord morphology, Jaundice, Biliary ... |
ORPHA:3310 |
Primary Ciliary Dyskinesia |
|
Male infertility, Female infertility, Asplenia, Polysplenia, Abnormal sperm motility |
ORPHA:244 |
Pseudohypoaldosteronism Type 2 |
|
Muscle weakness, Periodic paralysis |
ORPHA:757 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Wide nasal bridge, Camptodactyly, Abnormal myelination |
OMIM:617333 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss, Abnormal skeletal muscle morphology, Anaplastic thyroid carcin... |
ORPHA:142 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Dystonia, Decreased nerve conduction velocity, Tremor, Abnormal gallbladd... |
ORPHA:512 |
X-Linked Intellectual Disability, Snyder Type |
|
Decreased muscle mass, Hypospadias, Involuntary movements, Cryptorchidism, Inability to walk, Uns... |
ORPHA:3063 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Delayed CNS myelination, Tremor, Babinski sign, Hypertonia, Brain atrophy, Cirrhosis, Spasticity,... |
OMIM:616539 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Dystonia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Ga... |
OMIM:615530 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Ciliary Dyskinesia With Defective Radial Spokes |
|
Absent respiratory ciliary axoneme radial spokes, Immotile sperm |
OMIM:242670 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity... |
ORPHA:500144 |
Retinitis Pigmentosa 82 With Or Without Situs Inversus |
|
Optic disc pallor, Reduced sperm motility |
OMIM:615434 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
External genital hypoplasia, Paralysis |
OMIM:242100 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Generalized muscle weakness, ... |
OMIM:620278 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Porphyria, Acute Intermittent |
|
Hepatocellular carcinoma, Respiratory paralysis, Muscle weakness, Paralysis |
OMIM:176000 |
Danon Disease |
|
Myocardial necrosis, Distal muscle weakness, Proximal muscle weakness, Lower limb amyotrophy, EMG... |
OMIM:300257 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Lethal Congenital Contracture Syndrome 5 |
|
Small for gestational age, Centrally nucleated skeletal muscle fibers, Decreased nerve conduction... |
OMIM:615368 |
Diaphanospondylodysostosis |
|
Short nose, Polymicrogyria, Abnormal liver lobulation |
OMIM:608022 |
Glycogen Storage Disease Xii |
|
Hepatomegaly, Splenomegaly, Jaundice, Elevated circulating alanine aminotransferase concentration... |
OMIM:611881 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... |
ORPHA:101330 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Ragged-red muscle fibers,... |
OMIM:603041 |
Gitelman Syndrome |
|
Neoplasm of the pancreas, Maternal diabetes, Paralysis, Rhabdomyolysis, Diabetic ketoacidosis, Ty... |
ORPHA:358 |
Alström Syndrome |
|
Decreased response to growth hormone stimulation test, Elevated circulating thyroid-stimulating h... |
ORPHA:64 |
Inhalational Botulism |
|
Muscle weakness, Paralysis |
ORPHA:254504 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Testicular atrophy, Cirrhosis |
OMIM:613987 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... |
OMIM:605373 |
Rift Valley Fever |
|
Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesis, Decerebr... |
ORPHA:319251 |
Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
Bone Marrow Failure Syndrome 5 |
|
Hypogonadism, Testicular atrophy |
OMIM:618165 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Ciliary Dyskinesia, Primary, 5 |
|
Reduced sperm motility |
OMIM:608647 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Sarcoidosis |
|
Hepatomegaly, Hyperthyroidism, Diabetes insipidus, Facial palsy, Portal hypertension, Proximal mu... |
ORPHA:797 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness |
ORPHA:43393 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Muscle weakness |
ORPHA:228302 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Elevated circulating aspartate aminotransferase concentration, Flexion contracture, Optic atrophy... |
OMIM:613154 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Elevated hepatic iron concentration, Pancreatic hypoplasia, Hepatic steatosi... |
OMIM:619991 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Hyperthyroidism, Scapular winging, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Pseudohypoaldosteronism |
OMIM:145260 |
Renal Cysts And Diabetes Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypospadias, Maturity-onset diabetes of the you... |
OMIM:137920 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Schinzel-Giedion Syndrome |
|
Streak ovary, Aganglionic megacolon, Failure to thrive in infancy, Hypospadias, Ependymoma, Vocal... |
ORPHA:798 |
Pmm2-Cdg |
|
Elevated hepatic transaminase, Multiple joint contractures, Abnormality of coordination, Ataxia, ... |
ORPHA:79318 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Degcags Syndrome |
|
Hepatomegaly, Small for gestational age, Hypospadias, Cryptorchidism, Vocal cord paralysis, Chole... |
OMIM:619488 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Incoordina... |
OMIM:223900 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Decreased serum insulin-like growth factor 1, Ectopic posterior pituitary, Decreased response to ... |
ORPHA:67045 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short nose, Failure to thrive, Delayed peripheral myelination |
ORPHA:364577 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Tyrosinemia, Type I |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Periodic paralysis, Splenomeg... |
OMIM:276700 |
Autosomal Dominant Polycystic Kidney Disease |
|
Polycystic liver disease, Pancreatic cysts, Pituitary growth hormone cell adenoma, Hepatic cysts,... |
ORPHA:730 |
Distal Renal Tubular Acidosis |
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Respiratory insufficiency due to muscle weakness, Failure to thrive, Muscle weakness, Paralysis |
ORPHA:18 |
Heterotaxy, Visceral, 11, Autosomal, With Male Infertility |
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Polysplenia, Reduced progressive sperm motility |
OMIM:619608 |
Renal Tubular Acidosis Iii |
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Periodic paralysis |
OMIM:267200 |
Igg4-Related Thyroid Disease |
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Nodular goiter, Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter... |
ORPHA:64744 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
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Hepatomegaly, Diabetes mellitus, Splenomegaly, Increased muscle lipid content, Abnormality of the... |
ORPHA:565612 |
Lethal Congenital Contracture Syndrome 9 |
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Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo... |
OMIM:616503 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis, Optic nerve compression, Hepatosplenomegaly |
OMIM:259730 |
Pineoblastoma |
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Papilledema, Pinealoma, Paralysis |
ORPHA:251909 |
Orofaciodigital Syndrome Type 14 |
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Bilateral cryptorchidism, Epispadias, Periventricular heterotopia, Abnormal myelination |
ORPHA:434179 |
Singleton-Merten Syndrome 1 |
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Waddling gait, Decreased body weight, Muscle fiber atrophy, Tendon rupture, Muscle weakness |
OMIM:182250 |