| Atonic-Astatic Syndrome Of Foerster |
|
Abasia, Ataxia, Inability to walk, Generalized hypotonia, Hypotonia |
OMIM:209100 |
| Spastic Paraplegia 34, X-Linked |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Paraplegia, Clonus, Spastic gait |
OMIM:300750 |
| Spastic Paraplegia 61, Autosomal Recessive |
|
Spastic paraplegia, Scissor gait, Inability to walk, Spasticity |
OMIM:615685 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Ataxia, Babinski sign, Sensory ataxia |
OMIM:256860 |
| Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Spasticity, Tip-toe gait, Clonus |
OMIM:607584 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Hypertonia, Ataxia, Rigidity, Spasticity, Hypotonia |
ORPHA:2672 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Normokalemic Periodic Paralysis |
|
Periodic paralysis, Percussion myotonia |
OMIM:170600 |
| Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Hypotrichosis 1 |
|
Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Sparse axillary hair, Sparse pub... |
OMIM:605389 |
| Ataxia With Fasciculations |
|
Fasciculations, Ataxia |
OMIM:108700 |
| Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Gait disturbance, Ataxia |
ORPHA:1168 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia of the face, Paradoxical myotonia, Cold-sensitive myotonia, Myotonia, Periodic hypokalem... |
ORPHA:684 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements, Dystonia |
OMIM:611092 |
| Myotonia Congenita, Autosomal Dominant |
|
Myotonia with warm-up phenomenon, Percussion myotonia, Handgrip myotonia, Myotonia, EMG: myotonic... |
OMIM:160800 |
| Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
| Hypotrichosis Simplex |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Sparse eyelashes |
ORPHA:55654 |
| Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
| Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Poor fine motor coordination, Spastic paraparesis, Impaired vibratory sensation, Babinski sign, G... |
ORPHA:320370 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic ataxia, Spastic paraparesis |
OMIM:613672 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Inability to walk, Axonal degeneration, Proximal muscle weakness in lower limbs, Toe extensor amy... |
ORPHA:98856 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Spinocerebellar Ataxia Type 4 |
|
Ataxia, Impaired vibratory sensation, Gait disturbance, Impaired proprioception, Impaired tactile... |
ORPHA:98765 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Achilles tendon contracture, Loss of ambulatio... |
ORPHA:324442 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Unsteady ... |
OMIM:616053 |
| Spastic Ataxia With Congenital Miosis |
|
Ataxia, Hemiplegia/hemiparesis, Spastic ataxia |
ORPHA:1182 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Tip-toe gait, Spastic paraplegia, Scissor gait, Spasticity, Clonus |
ORPHA:101004 |
| Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
| Ataxia-Microcephaly-Cataract Syndrome |
|
Ataxia, Generalized hypotonia, Hypotonia |
OMIM:208870 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Fair hair, Sparse hair |
OMIM:600628 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Appendicular hypotonia, Ataxia, Inability to walk, Hypotonia |
OMIM:619333 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Scoliosis, Distal sensory impairment, Foot dorsiflexor weakness, Gait distur... |
OMIM:616155 |
| Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Spastic paraparesis, Dysmetria, Intention tremor, Dysdiadochokinesis, Gait atax... |
ORPHA:423275 |
| Spastic Paraparesis-Deafness Syndrome |
|
Ataxia, Hemiplegia/hemiparesis, Spastic paraparesis, Gait disturbance, Impaired pain sensation |
ORPHA:2815 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:618425 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Generalized hypotonia, Hypotonia |
OMIM:213000 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Distal sensory impa... |
OMIM:614436 |
| X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction |
ORPHA:306617 |
| Alpers-Huttenlocher Syndrome |
|
Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Choreoathetosis, Spa... |
ORPHA:726 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Nonprogressive cerebellar ataxia, Generalized hypotonia, Trun... |
ORPHA:94122 |
| Hypotrichosis 11 |
|
Alopecia universalis, Sparse hair, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes,... |
OMIM:615059 |
| Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
| Isolated Cerebellar Agenesis |
|
Hypertonia, Ataxia, Hypotonia |
ORPHA:1398 |
| Autosomal Spastic Paraplegia Type 30 |
|
Ataxia, Babinski sign, Distal sensory impairment, Somatic sensory dysfunction, Progressive spasti... |
ORPHA:101010 |
| Hypotrichosis 14 |
|
Sparse body hair, Sparse hair |
OMIM:618275 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Hypotrichosis 4 |
|
Sparse scalp hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair, Alopecia, Uncombable hair |
OMIM:146550 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Peripheral axonal neuropathy, Distal sensory impairment, Foot dorsiflexor we... |
OMIM:617087 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Ataxia, Hypotonia |
ORPHA:1397 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Kyphoscoliosis, Decreased sensory nerve conduction ve... |
OMIM:214400 |
| Mast Syndrome |
|
Spastic paraparesis, Babinski sign, Spastic paraplegia, Gait disturbance, Apraxia |
OMIM:248900 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Ataxia, Spasticity, Hypotonia |
OMIM:619228 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia, Periodic hyperkalemic paralysis |
OMIM:170500 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
| Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Intention tremor, Generalized hypotonia, Gait ataxia, Hypotonia |
OMIM:601238 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Kyphosis, Decreased nerve conduction velocity, Internally nucleated skeletal muscle fibers, Axona... |
OMIM:618138 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Sparse hair, Alopecia |
OMIM:212835 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait |
OMIM:616921 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Morning myoclonic jerks, Limb ataxia, Intention tremor, Myoclonus |
ORPHA:308 |
| Myotonia Congenita, Autosomal Recessive |
|
Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up phenomenon, Myotonia |
OMIM:255700 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Gait disturbance, Ataxia, Choreoathetosis, Spastic paraparesis |
ORPHA:67047 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| Hypotrichosis 10 |
|
Sparse body hair, Sparse eyebrow, Sparse eyelashes |
OMIM:614238 |
| Maple Syrup Urine Disease |
|
Ataxia, Hemiplegia/hemiparesis, Hypotonia |
ORPHA:511 |
| Brody Disease |
|
Flexion contracture, Skeletal muscle hypertrophy, Myotonia, Percussion myotonia, Somatic sensory ... |
OMIM:601003 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Infantile muscular hypotonia, Myoclonus, Rigidity, Progressive e... |
OMIM:612736 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Hand muscle weakness, Dysmetria, Axonal degeneration, Hand tremor, Onion bulb formation, Decrease... |
OMIM:302800 |
| Hydatidiform Mole, Recurrent, 3 |
|
Infertility |
OMIM:618431 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98855 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Loss of ambulation, Abnormal muscle fiber morphology, Rimmed vacuoles, Increased variability in m... |
ORPHA:34516 |
| Richieri Costa-Da Silva Syndrome |
|
Beaking of vertebral bodies, Kyphoscoliosis, Inability to walk, Distal lower limb muscle weakness... |
ORPHA:3101 |
| Zebra Body Myopathy |
|
Torticollis, Muscle fiber necrosis, Nemaline bodies, EMG: myopathic abnormalities, Rimmed vacuole... |
ORPHA:97240 |
| Witkop Syndrome |
|
Sparse hair, Ridged nail, Fine hair, Concave nail, Nail pits, Small nail |
OMIM:189500 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Weakness of facial musculature, Hand muscle atrophy, Scol... |
OMIM:618811 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Alopecia, Congenital |
|
Sparse hair, Alopecia |
OMIM:300042 |
| Spinocerebellar Ataxia Type 23 |
|
Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Babinski sign, Impaired distal vibration s... |
ORPHA:101108 |
| Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Broad-based gait, Lumbar hyperlordosis, Increased endomysial connective tissue, Tip-toe gait, Rig... |
ORPHA:353 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Segmental peripheral demyelination/remyelination, Onion bulb formation, Peri... |
OMIM:606482 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Impaired vibration sensation at ankles, Dysdiadochokinesis, Babinski sign |
ORPHA:101007 |
| Myoclonus-Dystonia Syndrome |
|
Torticollis, Spinal myoclonus, Myoclonus, Limb myoclonus, Writer's cramp, Dystonia |
ORPHA:36899 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Decreased number of large peripheral myelinated nerve fibers, Ataxia, Loss of ambulation, Limb at... |
OMIM:208920 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormal pyramidal sign, Gait disturbance, Tremor, Spasticity, Dystonia, Abno... |
OMIM:614561 |
| Phosphoserine Phosphatase Deficiency |
|
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Dystrophic toenail, Sparse hair, Alopecia |
OMIM:614928 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Myoclonus, Ataxia |
OMIM:159800 |
| Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98853 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor, Neonatal hypotonia |
OMIM:300703 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Tip-toe gait, Calf muscle hypertrophy, Scoliosis, Choreoathetosis, Cerebellar atr... |
ORPHA:37612 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Ataxia, Gait disturbance, Tremor, Impaired pain sensation |
ORPHA:99014 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Tremor, Myoclonus, Dystonia |
OMIM:619647 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Percussion myotonia, Paradoxical myotonia, Handgrip myotonia |
OMIM:168300 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis, Myotonia |
OMIM:170400 |
| Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Ataxia, Dysmetria, Flexion contracture, Intention tremor, Ankle clonus, Myotonia, Babinski sign, ... |
OMIM:615491 |
| Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Rigidity, Parkinsonis... |
OMIM:605407 |
| Spinocerebellar Ataxia 41 |
|
Ataxia, Unsteady gait |
OMIM:616410 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Hypoplastic toenails, Sparse hair, Sparse eyebrow, Alopecia, Sparse body hair, Abnormal fingernai... |
ORPHA:2722 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Generalized hypotonia, Spasticity |
OMIM:617854 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Kyphoscoliosis, Cerebral atrophy, Peripheral hypomyelination, Axonal degeneration, Hyperg... |
OMIM:604168 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Axonal degeneration, Degeneration of anterior horn cells, Distal sensory impairment,... |
OMIM:604484 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Dystonia |
OMIM:125370 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Generalized hypotonia, Athetosis, Hypotonia, Dystonia, Abnormality of ... |
OMIM:615159 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Gait ataxia, Limb ataxia |
OMIM:617769 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Nail dysplasia, Atrichia, Absent hair, Sparse hair, Absent eyelashes, Nail dystrophy, Concave nail |
OMIM:614931 |
| Woolly Hair, Autosomal Recessive 3 |
|
Sparse scalp hair, Sparse hair, Sparse eyelashes, Trichorrhexis nodosa, Fine hair, Curly hair |
OMIM:616760 |
| Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Writer's cramp, Limb dystonia |
OMIM:614860 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, G... |
ORPHA:95434 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Paraparesis, Distal sensory impairment, Steppage gait |
OMIM:302802 |
| Kufor-Rakeb Syndrome |
|
Paraparesis, Hypertonia, Ataxia, Parkinsonism with favorable response to dopaminergic medication,... |
OMIM:606693 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Kyphosis, Ataxia, Scoliosis, Gait disturbance, Tremor, Distal upper limb amyotrophy, Distal lower... |
ORPHA:101075 |
| Developmental And Epileptic Encephalopathy 38 |
|
Hypertonia, Ataxia, Generalized hypotonia, Dystonia |
OMIM:617020 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Clumsiness, Dysmetria, Intention tremor, Generalized hypotonia, Gait ataxia, Spasticity, ... |
OMIM:608029 |
| Episodic Ataxia, Type 8 |
|
Intention tremor, Ataxia, Slurred speech, Episodic ataxia |
OMIM:616055 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| Spermatogenic Failure 35 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 19 |
|
Infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617592 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Loss of ambulation, Ataxia, Dysmetria, Tremor, Unsteady gait, Hypotonia |
OMIM:617917 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Intention tremor, Babinsk... |
ORPHA:284332 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Skeletal muscle hypertrophy, Myotonia, Vertebral wedging, Firm muscles |
OMIM:255710 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse scalp hair, Alopecia, Sparse pubic hair, Sparse axillary hair |
ORPHA:505 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Ataxia, Dysmetria, Intention tremor, Abnormal pyramidal sign, Truncal ataxia, Unsteady gait, Lowe... |
OMIM:616948 |
| Spinocerebellar Ataxia 35 |
|
Torticollis, Ataxia, Loss of ambulation, Pseudobulbar paralysis, Dysmetria, Intention tremor, Bab... |
OMIM:613908 |
| Choreoathetosis, Familial Inverted |
|
Gait disturbance, Rigidity, Abnormal pyramidal sign, Progressive choreoathetosis |
OMIM:118750 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Impaired distal proprioception |
ORPHA:231445 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria |
OMIM:617584 |
| Myotonia Permanens |
|
Generalized muscle hypertrophy, Skeletal muscle hypertrophy, Hyperlordosis, Gait disturbance, Myo... |
ORPHA:99735 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Ataxia, Cerebral atrophy, Dysmetria, Axonal degeneration, Dysdiadochokinesis, Neurodegeneration, ... |
OMIM:615157 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Rigidity, Parkinsonism, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Gordon Holmes Syndrome |
|
Oligomenorrhea, Infertility, Ataxia, Hypogonadotropic hypogonadism |
OMIM:212840 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Flexion contracture, Proximal muscle weakness in lower limbs, Scoliosis, Myotonia, Skeletal muscl... |
OMIM:310440 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction... |
OMIM:605588 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Increased endomysial connective tissue, Flexion contracture of finger, Proximal muscle weakness i... |
ORPHA:206549 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Frequent falls, Pro... |
ORPHA:254343 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse scalp hair, Absent eyebrow, Sparse eyelashes, Sparse axillary hair, Sparse pubic hair, Ony... |
ORPHA:1808 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Paraparesis, Hypertonia, Action tremor, Truncal titubation, Inability to walk, Opisthotonus, Babi... |
OMIM:607483 |
| Distal Myopathy, Tateyama Type |
|
Intrinsic hand muscle atrophy, Clumsiness, EMG: myopathic abnormalities, Increased variability in... |
ORPHA:488650 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Sparse hair, Reduced terminal:vellus ratio |
OMIM:601553 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Spinocerebellar Ataxia 20 |
|
Action tremor, Limb ataxia, Abnormal pyramidal sign, Gait ataxia, Postural tremor |
OMIM:608687 |
| Spinocerebellar Ataxia Type 35 |
|
Torticollis, Progressive cerebellar ataxia, Pseudobulbar paralysis, Dysmetria, Limb ataxia, Inten... |
ORPHA:276193 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia, Unsteady gait |
OMIM:615945 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Limb ataxia, Intention tremor, Truncal ataxia, Gait ataxia, Fasciculations |
OMIM:613728 |
| Spermatogenic Failure 10 |
|
Infertility, Abnormal sperm morphology |
OMIM:614822 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6 |
|
Axonal degeneration, Arthrogryposis-like hand anomaly, Diaphragmatic eventration, Peripheral axon... |
OMIM:620011 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Kyphosis, Scoliosis, Lower limb muscle weakness, Gait disturbance, Skeletal muscle atrophy |
OMIM:611225 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Kyphosis, Ataxia, Decreased nerve conduction velocity, Scoliosis, Gait disturbance, Tremor, Impai... |
ORPHA:101078 |
| Dystonia 11, Myoclonic |
|
Torticollis, Tremor, Myoclonus, Writer's cramp |
OMIM:159900 |
| Episodic Ataxia, Type 2 |
|
Progressive cerebellar ataxia, Paresthesia, Myotonia, Dystonia, Episodic ataxia |
OMIM:108500 |
| Spinal Muscular Atrophy, Jokela Type |
|
Calf muscle hypertrophy, Distal sensory impairment, Spinal muscular atrophy, Tremor, Fasciculatio... |
OMIM:615048 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Axonal degeneration, Degeneration of anterior horn cells, Peripher... |
OMIM:602433 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Unsteady gait, Skeletal musc... |
ORPHA:101097 |
| Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Cogwheel rigidity, ... |
ORPHA:363710 |
| Myotonia Fluctuans |
|
Myotonia of the face, Myotonia with warm-up phenomenon, Spasticity of facial muscles, Myotonia of... |
ORPHA:99734 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Kyphosis, Ataxia, Flexion contracture of finger, Truncal titubation, Axonal degeneration, Impaire... |
ORPHA:88628 |
| Acetazolamide-Responsive Myotonia |
|
Gait disturbance, Myotonia, Skeletal muscle hypertrophy |
ORPHA:99736 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Ataxia, Dysmetria, Limb ataxia, Generalized hypotonia, Tremor, Gait ataxia, Spasticity, Unsteady ... |
OMIM:213200 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Vocal tremor, Oromandibular dystonia, Blepharospasm, Hand tremor, Myoclonus, Upper l... |
ORPHA:420485 |
| Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Action tremor, Tremor by anatomical site, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Impaired vibration sensation in the lower limbs, Babinski sign, Difficulty walking, Progressive s... |
ORPHA:444099 |
| Developmental And Epileptic Encephalopathy 37 |
|
Myoclonus, Hyperkinetic movements, Rigidity, Chorea, Gait disturbance, Cogwheel rigidity, Choreoa... |
OMIM:616981 |
| Trichodysplasia-Xeroderma Syndrome |
|
Sparse scalp hair, Pili torti, Brittle hair, Alopecia, Sparse body hair, Sparse eyebrow, Coarse h... |
ORPHA:3361 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia, Generalized hypotonia |
ORPHA:404493 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Intention tremor, Ataxia, Rigidity, Myoclonus |
OMIM:618876 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Intention tremor, Ataxia |
OMIM:190200 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Involuntary movements, Spasticity, Dystonia |
OMIM:617282 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Intrinsic hand muscle atrophy, Proximal muscle weakness in lower limbs, EMG: myopathic abnormalit... |
ORPHA:276435 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Ataxia, Hypotonia |
ORPHA:22 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Oromandibular dystonia, Bradykinesia, Spastic paraparesis, Tip-toe gait, Rigidity, Gait disturban... |
OMIM:615643 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia |
ORPHA:101005 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Falls, Gait disturbance, Choreoathetosis |
OMIM:616230 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Peripheral axonal neuropathy, Decreased... |
OMIM:615490 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Clumsiness, Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Sp... |
ORPHA:314978 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Writer's cramp, Tremor, Myoclonus, Paroxysmal dystonia |
OMIM:608105 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Encephalopathy, Recurrent, Of Childhood |
|
Intention tremor, Babinski sign, Generalized hypotonia, Truncal ataxia, Chorea, Athetosis, Choreo... |
OMIM:130950 |
| Alternating Hemiplegia Of Childhood 2 |
|
Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Dystonia, Tetraplegia |
OMIM:614820 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Spontaneous pain sensation, Gait imbalance, Kyphoscoliosis, Sensory ataxia, Decreased sensory ner... |
ORPHA:101081 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Hidrotic Ectodermal Dysplasia |
|
Sparse scalp hair, Sparse hair, Sparse eyebrow, Alopecia, Slow-growing nails, Absent eyebrow, Spa... |
ORPHA:189 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia, Sparse body hair, Onychogryposis of toenails, Dystrophic toenail, Alopecia of scalp |
OMIM:617294 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Bradykinesia, Rigidity, Parkinsonism, Gait disturbance, Tremor, Dystonia |
OMIM:168100 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Bradykinesia, Rigidity, Spasticity, Fasciculations |
OMIM:183050 |
| Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Motor tics, Babinski sign, Myoclonus, Chorea, Frequent falls, Clonus, Poor moto... |
OMIM:500003 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Spastic tetraparesis, Generalized hypotonia, Progressive spastic paraparesis, Spastic ataxia |
ORPHA:496756 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Pili torti, Absent eyebrow, Brittle hair, Alopecia, Sparse body hair, Temporal hypotrichosis, Con... |
OMIM:602032 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Kyphosis, Ataxia, Loss of ambulation, Scoliosis, Peripheral axonal neuropathy, Distal sensory imp... |
OMIM:618124 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Ataxia, Dysmetria, Ankle clonus, Babinski sign, Spastic paraplegia, Spastic gait, Lower limb spas... |
OMIM:610357 |
| Lichtenstein-Knorr Syndrome |
|
Ataxia, Action tremor, Dysmetria, Limb ataxia, Dysdiadochokinesis, Gait ataxia |
OMIM:616291 |
| Spermatogenic Failure 23 |
|
Azoospermia, Infertility |
OMIM:617707 |
| Spermatogenic Failure 32 |
|
Azoospermia, Infertility |
OMIM:618115 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Ataxia, Dysmetria, Limb ataxia, Scoliosis, Peripheral axonal neuropathy, Gait ataxia, C... |
OMIM:610743 |
| Roussy-Lévy Syndrome |
|
Kyphoscoliosis, Intrinsic hand muscle atrophy, Limb ataxia, Impaired vibratory sensation, Decreas... |
ORPHA:3115 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Ankle flexion contracture, Flexion contracture of finger, EMG: myopathic abnormalities,... |
OMIM:619040 |
| Hypotrichosis 8 |
|
Sparse scalp hair, Woolly hair, Fair hair, Sparse hair, Sparse axillary hair, Sparse eyelashes, S... |
OMIM:278150 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:604187 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonus, Choreoathetosis, Hyperkinetic movements, Dystonia |
OMIM:618497 |
| Glut1 Deficiency Syndrome 1 |
|
Ataxia, Myoclonus, Babinski sign, Hemiparesis, Choreoathetosis, Spasticity, Paralysis |
OMIM:606777 |
| Hypotrichosis 7 |
|
Sparse scalp hair, Woolly hair, Sparse hair, Brittle hair, Sparse axillary hair, Sparse eyelashes... |
OMIM:604379 |
| Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Broad-based gait, Ataxia, Dysmetria, Parkinsonism, Spastic paraplegia, Spastic gait, Lower limb s... |
OMIM:613647 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Appendicular hypotonia, Ataxia, Clumsiness, Dysmetria, Limb ataxia, Intention t... |
OMIM:616127 |
| Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Abnormal posturing, Arm dyston... |
OMIM:619565 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Kyphoscoliosis, Peripheral axonal neuropathy, Distal amyotrophy, Tremor |
OMIM:619099 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oromandibular dystonia, Hypertonia, Bradykinesia, Oculogyric crisis, Abnormal pyramidal sign, Par... |
OMIM:613135 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Kyphoscoliosis, Action tremor, Segmental peripheral demyelination/remyelination, Onion bulb forma... |
OMIM:180800 |
| Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Myoclonus, Hyperkinetic movements, Spastic tetraplegia |
OMIM:618285 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Progressive cerebellar ataxia, Dysmetria, Limb fasciculations, Gait ataxia, Paralysis |
OMIM:606183 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Failure to thrive, Decreased nerve conduction velocity, Axonal degeneration, Small for gestationa... |
OMIM:604320 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Limb fasciculations, Spastic paraplegia, Gait disturbance, Spastic gait, Tongue fa... |
ORPHA:329475 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Kyphosis, Ataxia, Inability to walk, Lumbar hyperlordosis, Cerebral atrophy, Sc... |
OMIM:616756 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Sparse hair, Nail dystrophy |
OMIM:300652 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Infantile muscular hypotonia, Dysmetria, Intention tremor, Babinski sign, Nonprogress... |
ORPHA:453521 |
| Autosomal Dominant Cerebellar Ataxia |
|
Paraparesis, Progressive cerebellar ataxia, Laryngeal dystonia, Chorea, Tremor, Spasticity, Dysto... |
ORPHA:99 |
| Asherman Syndrome |
|
Infertility, Dysmenorrhea, Metrorrhagia, Oligomenorrhea, Abnormality of the menstrual cycle, Decr... |
ORPHA:137686 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea, Spasticity, Dystonia |
OMIM:614254 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Dystonia |
OMIM:617493 |
| Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Impaired distal tactile sensation, Flexion contracture, Proximal muscle weakness in lower limbs, ... |
OMIM:607706 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Ataxia, Dysmetria, Babinski sign, Distal sensory impairment, Spastic paraplegia, Difficulty walki... |
OMIM:616907 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Paroxysmal dyskinesia,... |
ORPHA:53583 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Abnormality of extrapyramidal motor function |
OMIM:615362 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Loss of ambulation, Ataxia, Dysmetria, Generalized hypotonia, Spasticity |
OMIM:617916 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
OMIM:609161 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Paraparesis, Ataxia, Tetraparesis, Choreoathetosis, Hypotonia |
ORPHA:27 |
| Monilethrix |
|
Nail dysplasia, Abnormality of hair texture, Sparse hair, Brittle hair, Alopecia, Nail dystrophy |
OMIM:158000 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Tetraparesis, Apraxia |
OMIM:105550 |
| Hyperkalemic Periodic Paralysis |
|
Hypertonia, Flexion contracture, Skeletal muscle hypertrophy, Cerebral palsy, Myotonia, Paresthes... |
ORPHA:682 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Abnormality of extrap... |
ORPHA:79262 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Inability to walk, Dysmetria, Generalized hypotonia, Rigidity, Gait disturbance, Tremor |
OMIM:618090 |
| Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
| Dystonia With Ringbinden |
|
Gait disturbance, Dystonia, Chorea |
OMIM:224550 |
| Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Laryngeal dystonia, Myoclonus, Dystonia |
OMIM:616398 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Broad-based gait, Kyphosis, Hip contracture, Tip-toe gait, Proximal muscle weakness in lower limb... |
OMIM:615290 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
| Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Bradykinesia, Myoclonus, Oromotor apraxia, Parkinso... |
ORPHA:454887 |
| Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Infertility |
OMIM:136580 |
| Dystonia, Dopa-Responsive |
|
Torticollis, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Resti... |
OMIM:128230 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Dystonia |
OMIM:615924 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Hip contracture, Kyphoscoliosis, Lumbar hyperlordosis, Joint contracture of the hand, Skeletal mu... |
OMIM:255800 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes, Coarse hair |
OMIM:234030 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Ataxia, Impaired vibration sensation in the lower limbs, Ankle clonus, Knee clonus, Babinski sign... |
OMIM:607565 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations |
OMIM:608030 |
| Primary Angiitis Of The Central Nervous System |
|
Paraparesis, Ataxia, Parkinsonism, Hemiparesis, Tetraparesis, Paralysis |
ORPHA:140989 |
| Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity |
OMIM:617829 |
| Autosomal Spastic Paraplegia Type 58 |
|
Torticollis, Erratic myoclonus, Dysmetria, Short stature, Intention tremor, Tip-toe gait, Babinsk... |
ORPHA:397946 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Ataxia, Chorea, Choreoathetosis, Involuntary movements, Torsion dystonia, Paresthesia, Paroxysmal... |
ORPHA:98811 |
| Myotonia, Potassium-Aggravated |
|
Myotonia |
OMIM:608390 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Kyphosis, Tip-toe gait, Macroglossia, Thigh hypertrophy, Calf muscle hypertrophy, EMG: myopathic ... |
OMIM:606612 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Kyphosis, Hip contracture, Nonprogressive muscular atrophy, Scoliosis, Hyperlordosis, Spinal musc... |
OMIM:600175 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Paralysis |
OMIM:105500 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Hypertonia, Ataxia, Extrapyramidal dyskinesia, Myoclonus, Hemiparesis, Chorea, Choreoathetosis, S... |
ORPHA:71277 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Myoclonus, Oculogyric crisis, Rigidity, Hyperkine... |
ORPHA:13 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Limb fasciculations, Lower limb muscle weakness, Distal lower limb amyotrophy, Upper limb amyotro... |
ORPHA:99940 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Myoclonus, Babinsk... |
ORPHA:314632 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Ataxia, Dysmetria, Intention tremor, Spasticity, Abnormality of extrapyramidal motor function |
OMIM:616140 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Increased endomysial connective tissue, Angulated muscle fibers, Proximal muscle weakness in lowe... |
OMIM:619733 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spasticity, Oculomotor apr... |
OMIM:614487 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Lower limb amyotrophy, Lower limb muscle weakness, Spinal muscular atrophy, Weakness of the intri... |
OMIM:615575 |
| Monilethrix |
|
Abnormal eyebrow morphology, Sparse hair, Patchy alopecia, Brittle hair, Abnormal eyelash morphol... |
ORPHA:573 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... |
OMIM:118220 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Limb ataxia, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Gener... |
OMIM:600224 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Spermatogenic Failure 72 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Tetraplegia/tetraparesis, Ankle clonus, Babinski sign, Progressive spasticity, Progressive spasti... |
ORPHA:506353 |
| Idiopathic Camptocormia |
|
Spinal canal stenosis, Amyotrophic lateral sclerosis, Cerebral atrophy, EMG: myopathic abnormalit... |
ORPHA:1320 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Dystonia 28, Childhood-Onset |
|
Torticollis, Oromandibular dystonia, Laryngeal dystonia, Retrocollis, Myoclonus, Craniofacial dys... |
OMIM:617284 |
| Adrenoleukodystrophy |
|
Paraparesis, Impaired vibration sensation at ankles, Limb ataxia, Truncal ataxia, Spastic paraple... |
OMIM:300100 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Motor stereotypy, Myotonia, Premature ovarian insufficiency, Short stature |
ORPHA:391307 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Bradykinesia, Resting tremor, Spastic paraparesis, Ankle clonus, Babinski sign, Cogwheel rigidity... |
ORPHA:363654 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Truncal ataxia, Spastic paraparesis |
OMIM:113610 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Ataxia, Generalized hypotonia, Rigidity, Gait disturbance, Dystonia |
OMIM:618239 |
| Joubert Syndrome 24 |
|
Ataxia, Dysmetria, Generalized hypotonia, Gait disturbance, Spasticity, Hypotonia |
OMIM:616654 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Nemaline Myopathy 4 |
|
Facial diplegia, Nemaline bodies, Kyphoscoliosis, Flexion contracture, Type 1 muscle fiber predom... |
OMIM:609285 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Sparse scalp hair, Alopecia universalis, Abnormal eyelash morphology, Sparse body hair |
ORPHA:1008 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Inability to walk, Dysmetria, Chorea, Gait ataxia, Axial hypotonia |
OMIM:618501 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Pelvic girdle amyotrophy, Pelvic girdle muscle weakness, Limb fasciculations, Lower ... |
OMIM:253400 |
| Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Loss of ambulation, Spinal rigidity, Skeletal muscle hypertrophy, Proximal muscle weakness in low... |
OMIM:619566 |
| Salla Disease |
|
Ataxia, Inability to walk, Generalized hypotonia, Athetosis, Spasticity, Hypotonia |
OMIM:604369 |
| Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Neonatal hypotonia, Spastic paraparesis, Dysmetria, Babinski sign, Spastic dysarthria, Hypotonia |
OMIM:616680 |
| Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
| X-Linked Adrenoleukodystrophy |
|
Paraparesis, Clumsiness, Hemiparesis, Gait disturbance, Somatic sensory dysfunction, Progressive ... |
ORPHA:43 |
| Oculotrichodysplasia |
|
Nail dysplasia, Sparse scalp hair, Sparse axillary hair, Sparse eyelashes, Fragile nails, Sparse ... |
OMIM:257960 |
| Ataxia-Oculomotor Apraxia 4 |
|
Oculomotor apraxia, Ataxia, Dystonia, Tetraplegia |
OMIM:616267 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Myoclonus, Ataxia, Difficulty walking, Dysmetria |
OMIM:619191 |
| Spinocerebellar Ataxia Type 12 |
|
Ataxia, Action tremor, Bradykinesia, Poor fine motor coordination, Intention tremor, Tremor by an... |
ORPHA:98762 |
| Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Gait ataxia |
ORPHA:98763 |
| Trichothiodystrophy 9, Nonphotosensitive |
|
Ataxia, Sparse hair, Sparse eyebrow, Tiger tail banding, Nail dystrophy |
OMIM:619692 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Woolly hair, Sparse hair |
OMIM:278200 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Motor axonal neuropathy, Ataxia, Cerebral cortical atrophy, Kyphosis, Dysmetria, Intention tremor... |
ORPHA:48431 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Postnatal growth retardation, Ataxia, Short stature |
OMIM:616113 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Spastic paraparesis, Gait disturbance, Tremor, Difficulty walking, Somatic sen... |
ORPHA:101077 |
| Spermatogenic Failure 20 |
|
Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Kyphoscoliosis, Myelin tomacula, Decreased sensory nerve conduction velocity, S... |
OMIM:145900 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Babinski sign, Truncal ataxia, Incoordination, Gait ataxia... |
OMIM:616204 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Myoclonus, Limb hypertonia, Chorea, Dystonia |
ORPHA:324588 |
| Hypotrichosis 12 |
|
Sparse hair, Aplasia/Hypoplasia of the eyebrow, Dry hair, Sparse or absent eyelashes, Slow-growin... |
OMIM:615885 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Kyphoscoliosis, Difficulty walking, Skeletal muscle atrophy, Dystonia, Peripheral demyeli... |
OMIM:616684 |
| Woolly Hair |
|
Abnormality of hair texture, Woolly hair, Brittle hair, Sparse body hair, Hypopigmentation of hai... |
ORPHA:170 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Kyphosis, Infertility, Cerebral atrophy, Impaired vibration sensation in the lower limbs, Upper l... |
OMIM:614409 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
| Spermatogenic Failure 56 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Ataxia, Inability to walk, Generalized hypotonia, Unsteady gait, Oculomotor apraxia |
OMIM:618273 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse scalp hair, Leukonychia, Woolly hair, Sparse eyebrow, Sparse eyelashes, Sparse body hair |
OMIM:616099 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Broad-based gait, Clumsiness, Progressive cerebellar ataxia, Dysmetria, Limb ataxia, Impaired vib... |
ORPHA:284324 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Positive Romberg sign, Distal sensory impairm... |
OMIM:617633 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Hypertonia, Ataxia, Clumsiness, Intrinsic hand muscle atrophy, Babinski sign, Abnormal pyramidal ... |
OMIM:616688 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis |
OMIM:607641 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Kyphoscoliosis, Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldin... |
OMIM:118200 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Decreased body weight, Waddling gait, Small for gestational age |
OMIM:618392 |
| Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Dysdiadochokinesis, Frequent falls, Gait ataxia, Spasticity |
OMIM:617691 |
| Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Generalized hypotonia |
OMIM:617120 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Hypertonia, Ataxia, Exaggerated startle response, Ankle clonus, Babinski sign, Abnormal pyramidal... |
OMIM:618598 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Upper limb spasticity, Spastic paraparesis, Dysmetria, Ankle clonus, Knee clonus, Babinski sign, ... |
OMIM:275900 |
| Mental Retardation, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Ataxia, Limb ataxia, Truncal ataxia, Gait disturbance, Unsteady gait |
ORPHA:284271 |
| Spinocerebellar Ataxia 32 |
|
Infertility, Ataxia, Testicular atrophy, Azoospermia |
OMIM:613909 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Dysmetria, Myoclonus, Tremor, Lower limb spasticity, Impaired tandem gait |
OMIM:619028 |
| Spermatogenic Failure 43 |
|
Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Hypertonia, Myoclonus, Tremor, Choreoathetosis, Dystonia |
OMIM:261630 |
| Myotonic Dystrophy 1 |
|
Facial diplegia, Testicular atrophy, Cerebral atrophy, Hypogonadism, Myotonia |
OMIM:160900 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Sparse hair, Sparse body hair, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ab... |
ORPHA:1818 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Bradykinesia, Dysmetria, Abnormal pyramidal sign, Parkinsonism, Chorea, Dystonia |
OMIM:618317 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Spermatogenic Failure, X-Linked, 3 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Broad-based gait, Ataxia, Myoclonus, Parkinsonism, Progressive spastic paraplegia, Spastic gait, ... |
ORPHA:306511 |
| Hsd10 Disease |
|
Ataxia, Infantile muscular hypotonia, Spastic paraparesis, Myoclonus, Rigidity, Gait disturbance,... |
ORPHA:391417 |
| Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, Inability to walk, Hyperkinetic movements, Choreoathetosis, Involuntary... |
OMIM:618218 |
| Familial Scheuermann Disease |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3135 |
| Myotonic Dystrophy 2 |
|
Type 2 muscle fiber atrophy, Weakness of facial musculature, Oligospermia, Handgrip myotonia, Hyp... |
OMIM:602668 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Kyphosis, Inability to walk, Exaggerated startle response, Flexion contracture, Scoliosis, Sensor... |
OMIM:609541 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Kyphosis, Inability to walk, Cerebral atrophy, Short neck, Scoliosis, Peripheral... |
OMIM:611890 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Kyphosis, Spinal rigidity, Flexion contracture, Rimmed vacuoles, Short neck, Scoliosis, Increased... |
OMIM:300718 |
| Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Ataxia, Hypotonia |
ORPHA:85297 |
| Foxg1 Syndrome |
|
Motor stereotypy, Inability to walk, Short stature, Severe postnatal growth retardation, Myoclonu... |
ORPHA:561854 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Skeletal muscle hypertrophy, Scoliosis, Peripheral axonal ne... |
ORPHA:101082 |
| Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Loss of ambulation, Ataxia, Myoclonus, Tremor, Difficulty walking |
OMIM:614018 |
| Hyperprolactinemia |
|
Infertility, Oligomenorrhea, Menorrhagia |
OMIM:615555 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Ataxia, Sparse hair |
ORPHA:1174 |
| Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
| Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Dysmetria, Limb ataxia, Intention tremor, Dysdiadochokinesi... |
OMIM:117360 |
| Urocanic Aciduria |
|
Broad-based gait, Ataxia, Action tremor, Truncal ataxia, Gait ataxia |
ORPHA:210128 |
| Developmental And Epileptic Encephalopathy 16 |
|
Dystonia, Myoclonus, Abnormality of extrapyramidal motor function, Hemiparesis |
OMIM:615338 |
| Coasy Protein-Associated Neurodegeneration |
|
Oromandibular dystonia, Difficulty walking, Parkinsonism, Spastic paraparesis |
ORPHA:397725 |
| Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Dysmetria, Limb ataxia, Dysdiadochokinesis, Abnormal pyramidal sign, Gait disturbance, Tr... |
OMIM:617145 |
| Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Gait ataxia |
OMIM:616540 |
| Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Hamstring contractures, Back pain, Spinal rigidity, Skeletal muscle hypertrophy, EMG: myopathic a... |
OMIM:300696 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Hemiplegia, Ataxia, Upper motor neuron dysfunction, Clumsiness, Loss of ambulation, Spastic parap... |
ORPHA:206443 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
| Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Inability to walk, Myoclonus, Limb myoclonus, Frequent falls, Tremor, Difficulty walk... |
ORPHA:2590 |
| Crandall Syndrome |
|
Pili torti, Brittle hair, Alopecia, Aplasia/Hypoplasia of the eyebrow, Sparse body hair, Fine hair |
ORPHA:202 |
| Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis, Myopathy, Generalized amyotrophy |
OMIM:618323 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Fasciculations, Tongue fasciculations |
OMIM:613435 |
| Hypotrichosis 6 |
|
Pili torti, Sparse hair, Sparse eyebrow, Brittle hair, Sparse eyelashes |
OMIM:607903 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Kyphoscoliosis, Inability to walk, Decreased motor nerve conduction velocity, Lower limb amyotrop... |
ORPHA:99950 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Short stature, Spastic diplegia, Myoclonus, Babinski sign |
OMIM:619065 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Ataxia, Clumsiness, Limb ataxia, Impaired vibratory sensation, Babinski sign, Gait ataxia, Postur... |
OMIM:609270 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Paralysis, Athetosis |
OMIM:300857 |
| Amyotrophy, Hereditary Neuralgic |
|
Skeletal muscle atrophy, Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Calf muscle hypertrophy, Tremor, Limb muscle weakness, Fasciculations, Decrea... |
OMIM:313200 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Spasticity, Myoclonus |
OMIM:545000 |
| Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Choreoathetosis, Spasticity, Spastic tetraparesis, Intrauterine growth retardation |
OMIM:617065 |
| Parastremmatic Dwarfism |
|
Kyphosis, Short neck, Scoliosis, Flexion contracture |
OMIM:168400 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:240103 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Kyphoscoliosis, Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased... |
OMIM:604563 |
| Primary Lateral Sclerosis |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic dysarthria, Progressive sp... |
ORPHA:35689 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Hyperkinetic movements, Tremor, Choreoathetosis, Dystonia |
OMIM:233910 |
| Creutzfeldt-Jakob Disease |
|
Myoclonus, Gait ataxia, Hemiparesis, Extrapyramidal muscular rigidity |
OMIM:123400 |
| Dystonia 9 |
|
Abnormal pyramidal sign, Spastic paraplegia, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
| Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Failure to thrive, Facial myokymia |
OMIM:620007 |
| X-Linked Dystonia-Parkinsonism |
|
Parkinsonism with favorable response to dopaminergic medication, Progressive extrapyramidal muscu... |
ORPHA:53351 |
| Peroxisome Biogenesis Disorder 8B |
|
Ataxia, Neonatal hypotonia, Spastic paraparesis, Dysmetria, Spasticity |
OMIM:614877 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Failure to thrive, Impaired vibratory sensation, Limb dystonia, Impaired proprioception... |
ORPHA:319199 |
| Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Ataxia, Impaired vibration sensation at ankles, Limb ataxia, Poor coordination,... |
ORPHA:98772 |
| Marinesco-Sjogren Syndrome |
|
Kyphosis, Ataxia, Failure to thrive, Limb ataxia, Flexion contracture, Hypergonadotropic hypogona... |
OMIM:248800 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Hypertonia, Ataxia, Loss of ambulation, Myoclonus, Babinski sign, Rigidity, Tetraparesis, Frequen... |
ORPHA:225154 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Kyphosis, Congenital muscular dystrophy, Hypogonadism |
ORPHA:1875 |
| Spinocerebellar Ataxia Type 2 |
|
Progressive cerebellar ataxia, Parkinsonism, Fasciculations, Chorea, Kinetic tremor, Gait ataxia,... |
ORPHA:98756 |
| Trichodental Dysplasia |
|
Fine hair, Sparse hair, Brittle hair, Slow-growing hair |
OMIM:601453 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
|
Decreased number of peripheral myelinated nerve fibers, Distal sensory impairment, Peripheral axo... |
OMIM:608720 |
| Developmental And Epileptic Encephalopathy 82 |
|
Neonatal hypotonia, Inability to walk, Spastic tetraplegia, Spastic paraparesis |
OMIM:618721 |
| Adrenomyeloneuropathy |
|
Female sexual dysfunction, Back pain, Axonal degeneration, Atrophy/Degeneration involving the cor... |
ORPHA:139399 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Limb hypertonia, Myoclonus, Chorea, Choreoathetosis, Involuntary movements, Parox... |
OMIM:606703 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Progressive distal muscular atrophy, Facial palsy, Fasciculations, Spinal muscular atr... |
OMIM:159950 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Stereotypical hand wringing |
ORPHA:397933 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Abnormal pyramidal sign, Head tremor, Dystonic gait, Athetosis, Titubation, Difficulty wa... |
ORPHA:280219 |
| Progressive Myoclonic Epilepsy With Dystonia |
|
Hemiplegia, Myoclonus, Abnormal pyramidal sign, Hemiparesis, Dystonia, Abnormality of extrapyrami... |
ORPHA:352596 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Hypertonia, Ataxia, Action tremor, Parkinsonism, Hyperkinetic movements, Chorea, Tremor, Dystonia |
OMIM:619738 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Bradykinesia, Hand tremor, Spastic paraparesis, Babinski sign, Parkinsonism, Rigidity, Frequent f... |
ORPHA:289560 |
| Sabinas Brittle Hair Syndrome |
|
Nail dysplasia, Sparse hair, Brittle hair, Dry hair, Nail dystrophy |
OMIM:211390 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ataxia, Spastic paraparesis, Dysmetria, Myoclonus, Dysdiadochokinesis, Spastic dysarthria, Spasti... |
ORPHA:313772 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
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Proximal muscle weakness in lower limbs, Ankle clonus, Babinski sign, Increased variability in mu... |
OMIM:613954 |
| Neurodegeneration With Brain Iron Accumulation 5 |
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Bradykinesia, Spastic paraparesis, Rigidity, Parkinsonism, Tremor, Dystonia, Abnormality of extra... |
OMIM:300894 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
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Sparse hair |
OMIM:272980 |
| Spastic Paraplegia 39, Autosomal Recessive |
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Gait disturbance, Ataxia, Babinski sign, Progressive spastic paraplegia |
OMIM:612020 |
| Nystagmus, Hereditary Vertical |
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Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
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Hypertonia, Myoclonus, Clonus |
OMIM:617290 |
| Autosomal Recessive Dopa-Responsive Dystonia |
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Ataxia, Bradykinesia, Myoclonus, Babinski sign, Rigidity, Parkinsonism, Oculogyric crisis, Gait a... |
ORPHA:101150 |
| Joubert Syndrome 25 |
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Oculomotor apraxia, Ataxia, Generalized hypotonia |
OMIM:616781 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Clumsiness, Dysmetria, Dysdiadochokinesis, Myoclonus |
OMIM:256731 |
| Ectodermal Dysplasia 10A, Hypohidrotic/Hair/Nail Type, Autosomal Dominant |
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Sparse hair, Sparse eyebrow, Sparse eyelashes, Ridged nail, Fine hair, Slow-growing hair |
OMIM:129490 |
| Hypotrichosis 13 |
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Abnormal sweat gland morphology, Woolly hair, Sparse hair, Sparse eyelashes |
OMIM:615896 |
| Childhood-Onset Spasticity With Hyperglycinemia |
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Hypertonia, Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Spastic dysarthria, Progressive s... |
ORPHA:401866 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
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Ataxia, Myoclonus |
OMIM:204500 |
| Spinocerebellar Ataxia 13 |
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Progressive cerebellar ataxia, Limb ataxia, Abnormal pyramidal sign, Generalized hypotonia, Limb ... |
OMIM:605259 |
| Spermatogenic Failure 7 |
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Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
| Congenital Muscular Dystrophy With Intellectual Disability |
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Reduced muscle fiber alpha dystroglycan, Multiple joint contractures, Loss of ambulation, Cerebra... |
ORPHA:370968 |
| Scapuloperoneal Spinal Muscular Atrophy |
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Torticollis, Broad-based gait, Kyphosis, Amyoplasia, Scapular muscle atrophy, Peroneal muscle wea... |
OMIM:181405 |
| Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
| Male Infertility Due To Acephalic Spermatozoa |
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Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
| Spermatogenic Failure 11 |
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Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
| Lopes-Maciel-Rodan Syndrome |
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Kyphosis, Cerebral atrophy, Scoliosis, Tremor, Cerebellar atrophy, Unsteady gait, Caudate atrophy... |
OMIM:617435 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
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Foot dorsiflexor weakness, Fasciculations, Skeletal muscle atrophy, Distal sensory impairment |
OMIM:137200 |
| Schopf-Schulz-Passarge Syndrome |
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Sparse hair, Onycholysis, Ridged nail, Narrow nail, Poroma, Apocrine hidrocystoma, Thin nail, Sma... |
OMIM:224750 |
| Choroidal Atrophy-Alopecia Syndrome |
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Sparse hair, Supernumerary nipple, Sparse or absent eyelashes, Abnormal fingernail morphology, Fi... |
ORPHA:1433 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
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Thick eyebrow, Sparse hair, Widow's peak |
OMIM:606242 |
| Spermatogenic Failure 62 |
|
Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
| Spermatogenic Failure 61 |
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Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
| Spermatogenic Failure 3 |
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Male infertility, Reduced sperm motility |
OMIM:606766 |
| Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
| Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
| Spinocerebellar Ataxia Type 29 |
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Ataxia, Dysmetria, Intention tremor, Dysdiadochokinesis, Generalized hypotonia, Gait ataxia, Ocul... |
ORPHA:208513 |
| Ataxia-Oculomotor Apraxia Type 4 |
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Ataxia, Kyphoscoliosis, Muscular dystrophy, Progressive distal muscular atrophy, Somatic sensory ... |
ORPHA:459033 |
| Spinocerebellar Ataxia Type 36 |
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Ataxia, Limb ataxia, Dysmetria, Hand tremor, Intention tremor, Babinski sign, Head tremor, Trunca... |
ORPHA:276198 |
| Hypotrichosis And Recurrent Skin Vesicles |
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Sparse scalp hair, Leukonychia, Sparse hair, Sparse eyebrow, Sparse eyelashes, Sparse axillary ha... |
OMIM:613102 |
