| Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Generalized hypotonia, Hypotonia, Abasia |
OMIM:209100 |
| Spastic Paraplegia 34, X-Linked |
|
Babinski sign, Clonus, Paraplegia, Spastic gait, Impaired vibratory sensation, Spastic paraplegia |
OMIM:300750 |
| Spastic Paraplegia 61, Autosomal Recessive |
|
Scissor gait, Inability to walk, Spasticity, Spastic paraplegia, Difficulty walking |
OMIM:615685 |
| X-Linked Spastic Paraplegia Type 34 |
|
Babinski sign, Shuffling gait, Lower limb spasticity, Impaired vibration sensation in the lower l... |
ORPHA:171607 |
| Neuropathy, Hereditary Sensory, Atypical |
|
Babinski sign, Ataxia, Sensory ataxia |
OMIM:256860 |
| Spastic Paraplegia 24, Autosomal Recessive |
|
Spastic paraplegia, Clonus, Tip-toe gait, Spasticity |
OMIM:607584 |
| Mental Retardation With Spastic Paraplegia |
|
Spastic paraplegia, Slowly progressive spastic quadriparesis |
OMIM:309640 |
| Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Ataxia, Hypertonia, Spasticity, Hypotonia |
ORPHA:2672 |
| Spinal Arachnoiditis |
|
Spastic paraparesis |
OMIM:182950 |
| Spastic Paraplegia With Associated Extrapyramidal Signs |
|
Spastic paraplegia, Abnormality of extrapyramidal motor function |
OMIM:182800 |
| Early-Onset Generalized Limb-Onset Dystonia |
|
Gait disturbance, Hypertonia |
ORPHA:256 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
| Hypotrichosis 1 |
|
Sparse eyelashes, Sparse eyebrow, Sparse pubic hair, Sparse axillary hair, Sparse hair, Sparse bo... |
OMIM:605389 |
| Myotonia Congenita, Autosomal Dominant |
|
Myotonia, Handgrip myotonia, Percussion myotonia, EMG: myotonic runs, Myotonia with warm-up pheno... |
OMIM:160800 |
| Leukoencephalopathy, Acute Reversible, With Increased Urinary Alpha-Ketoglutarate |
|
Ataxia, Generalized hypotonia |
OMIM:618384 |
| Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Myotonia, Myotonia of the upper limb, Handgrip myotonia, Percussion myotonia, Cold-sensitive myot... |
ORPHA:684 |
| Normokalemic Periodic Paralysis |
|
Myotonia, Periodic paralysis |
OMIM:170600 |
| Myelopathy, Htlv-1-Associated |
|
Abnormal pyramidal sign, Spastic paraparesis |
OMIM:159580 |
| Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
| Spastic Paraplegia, Epilepsy, And Mental Retardation |
|
Spastic paraplegia, Spastic paraparesis |
OMIM:182610 |
| Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Falls, Frequent falls |
OMIM:614937 |
| Hypotrichosis Simplex |
|
Sparse eyelashes, Sparse and thin eyebrow, Alopecia, Sparse scalp hair, Sparse hair, Sparse body ... |
ORPHA:55654 |
| Hypotrichosis 4 |
|
Sparse eyelashes, Alopecia, Pili torti, Sparse and thin eyebrow, Sparse hair, Sparse body hair |
OMIM:146550 |
| Autosomal Recessive Spastic Paraplegia Type 43 |
|
Babinski sign, Spastic gait, Impaired vibratory sensation, Poor fine motor coordination, Difficul... |
ORPHA:320370 |
| Spastic Ataxia 4, Autosomal Recessive |
|
Babinski sign, Spastic paraparesis, Spastic ataxia |
OMIM:613672 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal amyotrophy, Decreased motor nerve conduction velocity, Motor axonal neuropathy, Shoulder... |
ORPHA:98856 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired proprioception, Gait disturbance, Ataxia, Impaired vibratory sensation, Impaired tactile... |
ORPHA:98765 |
| Spinocerebellar Ataxia 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Spastic parapar... |
OMIM:616053 |
| Posterior Column Ataxia |
|
Impaired proprioception, Ataxia, Impaired vibratory sensation |
OMIM:176250 |
| Autosomal Recessive Axonal Neuropathy With Neuromyotonia |
|
Paresthesia, Motor axonal neuropathy, Camptodactyly of finger, Thoracic scoliosis, Weakness of lo... |
ORPHA:324442 |
| Autosomal Recessive Spastic Paraplegia Type 24 |
|
Clonus, Scissor gait, Tip-toe gait, Spasticity, Spastic paraplegia |
ORPHA:101004 |
| Spastic Ataxia With Congenital Miosis |
|
Ataxia, Spastic ataxia, Hemiplegia/hemiparesis |
ORPHA:1182 |
| Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
| Ataxia-Microcephaly-Cataract Syndrome |
|
Hypotonia, Ataxia, Generalized hypotonia |
OMIM:208870 |
| Loose Anagen Hair Syndrome |
|
Loose anagen hair, Sparse hair, Fair hair |
OMIM:600628 |
| Spinocerebellar Ataxia Type 40 |
|
Dysmetria, Intention tremor, Dysdiadochokinesis, Broad-based gait, Unsteady gait, Gait ataxia, Sp... |
ORPHA:423275 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Hypotonia, Ataxia, Inability to walk, Appendicular hypotonia |
OMIM:619333 |
| Tapetoretinal Degeneration With Ataxia |
|
Ataxia |
OMIM:272600 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Gait disturbance, Steppage gait, Axonal degeneration, Distal sensory impairment, Foot dorsiflexor... |
OMIM:616155 |
| Spastic Paraparesis-Deafness Syndrome |
|
Gait disturbance, Impaired pain sensation, Ataxia, Spastic paraparesis, Hemiplegia/hemiparesis |
ORPHA:2815 |
| X-Linked Complicated Spastic Paraplegia Type 1 |
|
Spastic paraplegia, Ataxia, Upper motor neuron dysfunction |
ORPHA:306617 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Hypotonia, Tremor, Ataxia, Generalized hypotonia |
OMIM:213000 |
| Rippling Muscle Disease 1 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:600332 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Axonal degeneration/re... |
OMIM:614436 |
| Alpers-Huttenlocher Syndrome |
|
Progressive spasticity, Choreoathetosis, Myoclonus, Paraparesis, Ataxia, Spasticity, Hypotonia, S... |
ORPHA:726 |
| Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication |
OMIM:314250 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Tremor, Myoclonus, Involuntary movements |
OMIM:611092 |
| Preimplantation Embryonic Lethality 2 |
|
Infertility |
OMIM:617234 |
| Mast Syndrome |
|
Babinski sign, Gait disturbance, Apraxia, Spastic paraplegia, Spastic paraparesis |
OMIM:248900 |
| Spermatogenic Failure 3 |
|
Infertility |
OMIM:606766 |
| Spermatogenic Failure 17 |
|
Infertility |
OMIM:617214 |
| Thomsen And Becker Disease |
|
Myotonia |
ORPHA:614 |
| Hypotrichosis 14 |
|
Sparse hair, Sparse body hair |
OMIM:618275 |
| Oocyte Maturation Defect 1 |
|
Infertility |
OMIM:615774 |
| Oocyte Maturation Defect 3 |
|
Infertility |
OMIM:617712 |
| Spermatogenic Failure 27 |
|
Infertility |
OMIM:617965 |
| Oocyte Maturation Defect 4 |
|
Infertility |
OMIM:617743 |
| Hypotrichosis 9 |
|
Sparse scalp hair, Sparse body hair |
OMIM:614237 |
| Oocyte Maturation Defect 5 |
|
Infertility |
OMIM:617996 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Nonprogressive cerebellar ataxia, Truncal ataxia, Broad-based gait, Generalized... |
ORPHA:94122 |
| Isolated Cerebellar Agenesis |
|
Hypotonia, Ataxia, Hypertonia |
ORPHA:1398 |
| Amyotrophic Lateral Sclerosis Type 4 |
|
Babinski sign, Gait disturbance, Spastic paraplegia, Abnormal pyramidal sign, Somatic sensory dys... |
ORPHA:357043 |
| Autosomal Spastic Paraplegia Type 30 |
|
Babinski sign, Scissor gait, Spastic gait, Lower limb spasticity, Distal sensory impairment, Atax... |
ORPHA:101010 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Distal sensory impairme... |
OMIM:617087 |
| Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Hypotonia, Ataxia |
ORPHA:1397 |
| Myoclonus, Familial, 2 |
|
Limb myoclonus |
OMIM:618364 |
| Epilepsy, Familial Adult Myoclonic, 6 |
|
Myoclonic tremor |
OMIM:618074 |
| Hemifacial Spasm, Familial |
|
Hemifacial spasm |
OMIM:141405 |
| Hypotrichosis 11 |
|
Alopecia, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse hair, Absent axil... |
OMIM:615059 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia, Periodic hyperkalemic paralysis |
OMIM:170500 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Chorea, Tremor, Hyperkinetic movements, Unsteady gait, Hemiballismus |
OMIM:616921 |
| Hypotrichosis 13 |
|
Sparse and thin eyebrow, Sparse hair, Woolly hair |
OMIM:615896 |
| Progressive Myoclonic Epilepsy Type 1 |
|
Morning myoclonic jerks, Myoclonus, Intention tremor, Ataxia, Limb ataxia |
ORPHA:308 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Action tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal myoclonus |
OMIM:608687 |
| Cerebellar Ataxia And Ectodermal Dysplasia |
|
Ataxia, Alopecia, Sparse hair |
OMIM:212835 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Internally nucleated skeletal muscle fibers, Axonal dege... |
OMIM:618138 |
| Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Hypertrophic nerve cha... |
OMIM:214400 |
| Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
| 3-Methylglutaconic Aciduria Type 3 |
|
Ataxia, Gait disturbance, Spastic paraparesis, Choreoathetosis |
ORPHA:67047 |
| Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Generalized hypotonia, Hypotonia, Gait ataxia |
OMIM:601238 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Chorea, Tremor, Ataxia, Hyperkinetic movements |
OMIM:618425 |
| Myotonia Congenita, Autosomal Recessive |
|
Myotonia, EMG: myotonic runs, Percussion myotonia, Myotonia with warm-up phenomenon |
OMIM:255700 |
| Proximal Myotonic Myopathy |
|
Myotonia |
ORPHA:606 |
| Hypotrichosis 10 |
|
Sparse eyelashes, Sparse eyebrow, Sparse body hair |
OMIM:614238 |
| Maple Syrup Urine Disease |
|
Hypotonia, Ataxia, Hemiplegia/hemiparesis |
ORPHA:511 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Abnormal cranial nerve... |
OMIM:601596 |
| Developmental Delay With Dysmorphic Facies And Dental Anomalies |
|
Hypotonia, Ataxia, Spasticity |
OMIM:619228 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Onion bulb formation, Gait disturbance, Decreased motor nerve conduction velocity, Hand muscle we... |
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 |
| Hypotrichosis 7 |
|
Sparse and thin eyebrow, Sparse eyelashes, Sparse hair, Woolly hair |
OMIM:604379 |
| Witkop Syndrome |
|
Fine hair, Small nail, Ridged nail, Concave nail, Sparse hair, Nail pits |
OMIM:189500 |
| Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Percussion myotonia, Skeletal muscle fibrosis, Rimmed vacuoles,... |
ORPHA:34516 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Weakness of facial musculature, Failure to thrive, Falls, Axonal degeneration, Distal amyotrophy,... |
OMIM:618811 |
| Alopecia, Congenital |
|
Alopecia, Sparse hair |
OMIM:300042 |
| Cerebellar Ataxia, Mental Retardation, And Dysequilibrium Syndrome 3 |
|
Tremor, Ataxia, Slurred speech |
OMIM:613227 |
| Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Myoclonus, Progressive gait ataxia, Intention tremor |
ORPHA:2589 |
| Richieri Costa-Da Silva Syndrome |
|
Decreased muscle mass, Myotonia of the upper limb, Skeletal muscle hypertrophy, Vertebral wedging... |
ORPHA:3101 |
| Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Macroglossia, Right ventricular hypertrophy, Achilles tendon contracture, EMG: myotonic runs, Sca... |
ORPHA:353 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Onion bulb formation, Peripheral axonal degeneration, Axonal degeneration, Distal sensory impairm... |
OMIM:606482 |
| Spinocerebellar Ataxia Type 23 |
|
Impaired proprioception, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Impaired distal... |
ORPHA:101108 |
| Rippling Muscle Disease 2 |
|
Percussion-induced rapid rolling muscle contractions, Muscle mounding |
OMIM:606072 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Progressive extrapyramidal movement disorder, Myoclonus, Ataxia, Hypertonia, Infantile muscular h... |
OMIM:612736 |
| Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Dysmetria, Tremor, Truncal ataxia, Generalized hypotonia, Hypotonia, Unsteady gait |
OMIM:616127 |
| Autosomal Recessive Spastic Paraplegia Type 27 |
|
Spastic paraplegia, Babinski sign, Dysdiadochokinesis, Impaired vibration sensation at ankles |
ORPHA:101007 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Decreased cervical spine flexion due to contractures of posterior cervical muscles, Proximal musc... |
ORPHA:98863 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Dysmetria, Tremor, Ataxia, Loss of ability to walk, Generalized hypotonia, Unsteady gait |
OMIM:617917 |
| Phosphoserine Phosphatase Deficiency |
|
Hypertonia, Postnatal growth retardation, Intrauterine growth retardation |
OMIM:614023 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Paraparesis, Ataxia, Spasticity, Generalized hypotonia, Attention deficit hyperactivity disorder |
OMIM:617854 |
| Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
| Zebra Body Myopathy |
|
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, EMG: myopathic abnormalities, ... |
ORPHA:97240 |
| Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
| Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
| Paroxysmal Non-Kinesigenic Dyskinesia |
|
Involuntary movements, Dystonia, Rigidity, Choreoathetosis, Torticollis, Chorea, Paroxysmal dyski... |
ORPHA:98810 |
| Spastic Paraplegia 80, Autosomal Dominant |
|
Spastic paraplegia, Babinski sign, Gait disturbance, Ataxia |
OMIM:618418 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Dystonia, Gait disturbance, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spastic... |
OMIM:614561 |
| Epilepsy, Familial Adult Myoclonic, 7 |
|
Myoclonic tremor |
OMIM:618075 |
| Dystonia 6, Torsion |
|
Lingual dystonia, Writer's cramp, Torticollis, Oromandibular dystonia, Myoclonus, Laryngeal dysto... |
OMIM:602629 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Spastic tetraparesis, Ataxia |
OMIM:619061 |
| Ectodermal Dysplasia 6, Hair/Nail Type |
|
Thin toenail, Alopecia, Sparse hair, Dystrophic toenail |
OMIM:614928 |
| Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Myotonia, Skeletal muscle atrophy, Sensory axonal neuropathy, Distal sensory impairment, Foot dor... |
OMIM:137200 |
| 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 |
| Developmental And Epileptic Encephalopathy 37 |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Hyperkinetic movements, Spasticity |
OMIM:616981 |
| Myopathy, Granulovacuolar Lobular, With Electrical Myotonia |
|
Myotonia |
OMIM:254950 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Peripheral axonal degeneration, Cerebellar atrophy, Decreased number of large periphera... |
OMIM:208920 |
| Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
| Episodic Ataxia Type 1 |
|
Myotonia, Cerebellar atrophy, Choreoathetosis, Kyphoscoliosis, Tip-toe gait, Calf muscle hypertro... |
ORPHA:37612 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Gait disturbance, Impaired pain sensation, Paraparesis, Tremor, Ataxia |
ORPHA:99014 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor, Neonatal hypotonia |
OMIM:300703 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Fasciculations |
OMIM:182980 |
| Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
| Laryngeal Abductor Paralysis |
|
Paralysis |
OMIM:308850 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Handgrip myotonia, Paradoxical myotonia, Percussion myotonia |
OMIM:168300 |
| Spastic Paraplegia 79, Autosomal Recessive |
|
Babinski sign, Myotonia, Head titubation, Dysmetria, Fasciculations, Intention tremor, Ataxia, An... |
OMIM:615491 |
| Atrichia With Papular Lesions |
|
Sparse hair |
OMIM:209500 |
| Odonto-Onycho Dysplasia-Alopecia Syndrome |
|
Sparse and thin eyebrow, Alopecia, Hypoplastic toenails, Abnormal fingernail morphology, Sparse h... |
ORPHA:2722 |
| Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Ataxia, Generalized hypotonia |
OMIM:617113 |
| Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Proximal amyotrophy, Gait disturbance, Hand tremor, Axonal degeneration, Distal sensory impairmen... |
OMIM:604484 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Chorea, Kyphoscoliosis... |
OMIM:604168 |
| Leukomelanoderma, Infantilism, Mental Retardation, Hypodontia, Hypotrichosis |
|
Sparse hair |
OMIM:246500 |
| Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia |
OMIM:616410 |
| Dystonia 15, Myoclonic |
|
Dystonia, Myoclonus, Writer's cramp |
OMIM:607488 |
| Choreoathetosis, Familial Inverted |
|
Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance, Rigidity |
OMIM:118750 |
| Ectodermal Dysplasia 9, Hair/Nail Type |
|
Absent hair, Nail dystrophy, Atrichia, Absent eyelashes, Nail dysplasia, Concave nail, Sparse hair |
OMIM:614931 |
| Woolly Hair, Autosomal Recessive 3 |
|
Fine hair, Sparse eyelashes, Trichorrhexis nodosa, Curly hair, Sparse scalp hair, Sparse hair |
OMIM:616760 |
| Dystonia 23 |
|
Gait disturbance, Axial dystonia, Writer's cramp, Torticollis, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
| Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Myoclonus, Fasciculations, Progressive cerebellar ataxia, Truncal ataxia, Upper motor neuron dysf... |
ORPHA:95434 |
| Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Steppage gait, Distal sensory impairment, Paraparesis |
OMIM:302802 |
| Spinocerebellar Ataxia 45 |
|
Ataxia, Limb ataxia, Gait ataxia |
OMIM:617769 |
| Kufor-Rakeb Syndrome |
|
Dystonia, Babinski sign, Gait disturbance, Rigidity, Torticollis, Myoclonus, Bradykinesia, Parapa... |
OMIM:606693 |
| Developmental And Epileptic Encephalopathy 38 |
|
Dystonia, Hypertonia, Ataxia, Generalized hypotonia |
OMIM:617020 |
| Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Gait disturbance, Impaired pain sensation, Distal upper limb amyotrophy, Kyphosis, Tremor, Distal... |
ORPHA:101075 |
| Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebral palsy, Dysdiadochokinesis, Broad-based gait |
OMIM:605388 |
| Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Clumsiness, Dysmetria, Intention tremor, Ataxia, Spasticity, Generalized hypotonia, Hypotonia, Ga... |
OMIM:608029 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Amyotrophic lateral sclerosis, Axonal de... |
OMIM:602433 |
| Geniospasm 1 |
|
Chin myoclonus |
OMIM:190100 |
| Ichthyosis-Hypotrichosis Syndrome |
|
Sparse hair |
ORPHA:91132 |
| Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Clumsiness, Babinski sign, Dysmetria, Progressive gait ataxia, Intention tremor, Progressive cere... |
ORPHA:284332 |
| Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Firm muscles, Myotonia, Skeletal muscle hypertrophy, Vertebral wedging, Kyphoscoliosis |
OMIM:255710 |
| Muscular Dystrophy, Barnes Type |
|
Myotonia |
OMIM:158800 |
| Graham Little-Piccardi-Lassueur Syndrome |
|
Sparse axillary hair, Alopecia, Sparse scalp hair, Sparse pubic hair |
ORPHA:505 |
| Episodic Ataxia, Type 8 |
|
Ataxia, Episodic ataxia, Slurred speech, Intention tremor |
OMIM:616055 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Cerebellar atrophy, Skeletal muscle atrophy, Dysmetria, Neurodegeneration, Axonal degen... |
OMIM:615157 |
| Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
| Spermatogenic Failure 35 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618341 |
| Spermatogenic Failure 33 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618152 |
| Spermatogenic Failure 34 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:618153 |
| Spermatogenic Failure 18 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617576 |
| Spermatogenic Failure 20 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617593 |
| Spermatogenic Failure 19 |
|
Coiled sperm flagella, Infertility, Absent sperm flagella, Short sperm flagella |
OMIM:617592 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Dysmetria, Lower limb spasticity, Intention tremor, Ataxia, Truncal ataxia, Unsteady gait, Abnorm... |
OMIM:616948 |
| Segawa Syndrome, Autosomal Recessive |
|
Rigidity, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favo... |
OMIM:605407 |
| Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
| Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
| Paraparetic Variant Of Guillain-Barré Syndrome |
|
Impaired distal proprioception, Paraparesis |
ORPHA:231445 |
| Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Frequent falls, Myoclonus, Upper limb hypertonia, Progressive gait ataxia, Progres... |
ORPHA:254343 |
| Myotonia Permanens |
|
Gait disturbance, Myotonia, Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Hyperlor... |
ORPHA:99735 |
| Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Infertility, Oligomenorrhea |
OMIM:212840 |
| Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Babinski sign, Head titubation, Frequent falls, Dysmetria, Fasciculations, Spastic ataxia, Tremor... |
OMIM:611302 |
| Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Spastic gait, Gait ataxia, Limb ataxia |
OMIM:617133 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
| Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Quadriceps muscle atrophy, Proximal muscle weakness ... |
ORPHA:206549 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal atrophy, Axona... |
OMIM:605588 |
| Myopathy, X-Linked, With Excessive Autophagy |
|
Proximal muscle weakness in lower limbs, Myopathy, Myotonia, Skeletal muscle atrophy, Flexion con... |
OMIM:310440 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Dystonia, Babinski sign, Opisthotonus, Rigidity, Frequent falls, Chorea, Truncal titubation, Cogw... |
OMIM:607483 |
| Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Involuntary movements, Gait disturbance, Dystonia, Chorea, Myoclonus, Ataxia, Craniofacial dyston... |
OMIM:617282 |
| Hypotrichosis, Congenital, With Juvenile Macular Dystrophy |
|
Pili torti, Reduced terminal:vellus ratio, Sparse hair |
OMIM:601553 |
| Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Dysmetria, Fasciculations, Intention tremor, Truncal ataxia, Limb ataxia, Gait ataxia |
OMIM:613728 |
| Hidrotic Ectodermal Dysplasia, Christianson-Fourie Type |
|
Sparse eyelashes, Abnormal hair morphology, Nail dystrophy, Absent eyebrow, Sparse scalp hair, Sp... |
ORPHA:1808 |
| Spinocerebellar Ataxia 29 |
|
Dysmetria, Intention tremor, Impaired tandem gait, Dysdiadochokinesis, Nonprogressive cerebellar ... |
OMIM:117360 |
| Distal Myopathy, Tateyama Type |
|
Clumsiness, Weakness of the intrinsic hand muscles, Calf muscle hypoplasia, EMG: myopathic abnorm... |
ORPHA:488650 |
| Myoclonus-Dystonia Syndrome |
|
Dystonia, Limb myoclonus, Writer's cramp, Torticollis, Myoclonus, Spinal myoclonus |
ORPHA:36899 |
| Dystonia 28, Childhood-Onset |
|
Gait disturbance, Dystonia, Short stature, Torticollis, Oromandibular dystonia, Myoclonus, Retroc... |
OMIM:617284 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Trichodysplasia-Xeroderma |
|
Sparse eyelashes, Dry hair, Brittle hair, Alopecia, Coarse hair, Sparse scalp hair, Sparse pubic ... |
OMIM:190360 |
| Autosomal Dominant Spastic Paraplegia Type 73 |
|
Babinski sign, Spastic gait, Lower limb spasticity, Progressive spastic paraparesis, Impaired vib... |
ORPHA:444099 |
| Alopecia-Epilepsy-Oligophrenia Syndrome Of Moynahan |
|
Alopecia, Sparse hair |
OMIM:203600 |
| Spinocerebellar Ataxia Type 35 |
|
Babinski sign, Pseudobulbar paralysis, Torticollis, Dysmetria, Intention tremor, Progressive cere... |
ORPHA:276193 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Dystonia, Choreoathetosis, Myoclonus, Inability to walk, Hyperkinetic movements |
OMIM:618497 |
| Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Gait disturbance, Rigidity, Oromandibular dystonia, Bradykinesia, Spastic tetraplegia, ... |
OMIM:615643 |
| Alternating Hemiplegia Of Childhood 2 |
|
Dystonia, Episodic quadriplegia, Choreoathetosis, Tetraplegia, Ataxia, Hemiplegia |
OMIM:614820 |
| Spinocerebellar Ataxia Type 37 |
|
Gait disturbance, Myoclonus, Falls, Cogwheel rigidity, Limb dysmetria, Tremor, Dysdiadochokinesis... |
ORPHA:363710 |
| Autosomal Dominant Striatal Neurodegeneration |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
ORPHA:228169 |
| Hypotrichosis 5 |
|
Sparse eyelashes, Thin eyebrow, Alopecia, Absent pubic hair, Absent axillary hair |
OMIM:612841 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Skeletal muscle atrophy, Impaired pain sensation, Decreased nerve conduction ve... |
ORPHA:101078 |
| Spinal Muscular Atrophy, Jokela Type |
|
Skeletal muscle atrophy, Fasciculations, Tremor, Distal sensory impairment, Calf muscle hypertrop... |
OMIM:615048 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Abnormality of the vertebral column, Peripheral demyelination, Quadriceps muscle weakness, Proxim... |
ORPHA:101097 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Babinski sign, Dystonia, Frequent falls, Myoclonus, Fasciculations, Tremor, Ataxia, Spasticity, G... |
OMIM:607317 |
| Deafness, Congenital, And Familial Myoclonic Epilepsy |
|
Myoclonus |
OMIM:220300 |
| Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Myoclonus, Rigidity, Intention tremor |
OMIM:618876 |
| Spastic Paraplegia 18, Autosomal Recessive |
|
Gait disturbance, Skeletal muscle atrophy, Kyphosis, Scoliosis, Lower limb muscle weakness |
OMIM:611225 |
| Developmental And Epileptic Encephalopathy 92 |
|
Dystonia, Myoclonus, Ataxia, Inability to walk, Spasticity, Difficulty walking, Lethargy |
OMIM:617829 |
| Spinocerebellar Ataxia 35 |
|
Babinski sign, Torticollis, Dysmetria, Intention tremor, Ataxia, Incoordination, Difficulty walking |
OMIM:613908 |
| Trichodysplasia-Xeroderma Syndrome |
|
Brittle hair, Alopecia, Coarse hair, Sparse and thin eyebrow, Trichorrhexis nodosa, Pili torti, S... |
ORPHA:3361 |
| Spinocerebellar Ataxia 37 |
|
Tremor, Ataxia, Unsteady gait, Frequent falls |
OMIM:615945 |
| Spermatogenic Failure 10 |
|
Abnormal sperm morphology, Infertility |
OMIM:614822 |
| Acetazolamide-Responsive Myotonia |
|
Gait disturbance, Myotonia, Skeletal muscle hypertrophy |
ORPHA:99736 |
| Myotonia Fluctuans |
|
Myotonia of the upper limb, Handgrip myotonia, Myotonia of the lower limb, Spasticity of facial m... |
ORPHA:99734 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, EMG: myopathic abnormalities, ... |
ORPHA:276435 |
| Paralysis Agitans, Juvenile, Of Hunt |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:168100 |
| Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency |
|
Ataxia, Generalized hypotonia |
ORPHA:404493 |
| Episodic Ataxia, Type 2 |
|
Dystonia, Myotonia, Paresthesia, Progressive cerebellar ataxia, Cerebellar vermis atrophy, Episod... |
OMIM:108500 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dysmetria, Tremor, Ataxia, Incoordination, Spasticity, Generalized hypotonia, Hypotonia, Limb ata... |
OMIM:213200 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Impaired proprioception, Gait disturbance, Truncal titubation, Positive Romberg sign, Axonal dege... |
ORPHA:88628 |
| Spinocerebellar Ataxia Type 15/16 |
|
Tremor by anatomical site, Ataxia, Action tremor, Head tremor, Upper limb postural tremor, Gait a... |
ORPHA:98769 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Rigidity, Chorea, Myoclonus, Tremor, Ataxia, Upper motor neuron dysfunction, Parkinsonism |
ORPHA:401901 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Dystonia, Abnormality of extrapyramidal motor function, Ataxia, Inability to walk, Gen... |
OMIM:615159 |
| Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Rigidity, Bradykinesia, Fasciculations, Ataxia, Spasticity |
OMIM:183050 |
| Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Progressive spastic paraparesis, Spastic tetraparesis, Spastic ataxia, Generalized hypotonia |
ORPHA:496756 |
| Autosomal Recessive Spastic Paraplegia Type 25 |
|
Spastic paraplegia, Paraparesis |
ORPHA:101005 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased muscle mass, Peripheral axonal neuropathy, Axonal degeneration, Knee flexion contractur... |
OMIM:615490 |
| Spastic Paraplegia 2, X-Linked |
|
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Spastic paraplegia, Spastic parapa... |
OMIM:312920 |
| Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
| Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
| Hidrotic Ectodermal Dysplasia |
|
Fine hair, Slow-growing nails, Sparse eyelashes, Small nail, Absent pubic hair, Nail dystrophy, A... |
ORPHA:189 |
| Pleoconial Myopathy With Salt Craving |
|
Paralysis |
OMIM:262900 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Gait disturbance, Skeletal muscle atrophy, Gait imbala... |
ORPHA:101081 |
| Epidermolysis Bullosa Simplex 6, Generalized, With Scarring And Hair Loss |
|
Alopecia of scalp, Dystrophic toenail, Alopecia, Onychogryposis of toenails, Sparse body hair |
OMIM:617294 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
| Spermatogenic Failure 26 |
|
Infertility, Acephalic spermatozoa |
OMIM:617961 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Clumsiness, Frequent falls, Spastic dysarthria, Intention tremor, Nonprogressive cerebellar ataxi... |
ORPHA:314978 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Hypotonia, Ataxia |
ORPHA:22 |
| Ectodermal Dysplasia 4, Hair/Nail Type |
|
Onycholysis, Temporal hypotrichosis, Brittle hair, Alopecia, Absent eyebrow, Absent eyelashes, Na... |
OMIM:602032 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Abnormality of extrapyramidal moto... |
ORPHA:275872 |
| Developmental And Epileptic Encephalopathy 69 |
|
Dystonia, Myoclonus, Spastic tetraplegia, Inability to walk, Hyperkinetic movements |
OMIM:618285 |
| Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Spasticity, Choreoathetosis |
OMIM:617065 |
| Spermatogenic Failure 21 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
| Spermatogenic Failure 16 |
|
Infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
| Benign Adult Familial Myoclonic Epilepsy |
|
Hand tremor, Myoclonus |
ORPHA:86814 |
| Corticobasal Syndrome |
|
Involuntary movements, Gait disturbance, Oromotor apraxia, Dystonia, Limb myoclonus, Limb apraxia... |
ORPHA:454887 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait disturbance, Rigidity, Dysmetria, Tremor, Hyperactivity, Inability to walk, Generalized hypo... |
OMIM:618090 |
| Facial Onset Sensory And Motor Neuronopathy |
|
Fasciculations |
ORPHA:85162 |
| Spermatogenic Failure 32 |
|
Infertility, Azoospermia |
OMIM:618115 |
| Spermatogenic Failure 23 |
|
Infertility, Azoospermia |
OMIM:617707 |
| Spermatogenic Failure 22 |
|
Infertility, Azoospermia |
OMIM:617706 |
| Dentatorubral-Pallidoluysian Atrophy |
|
Choreoathetosis, Chorea, Myoclonus, Ataxia, Abnormal pyramidal sign |
OMIM:125370 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Babinski sign, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Ankle clonus, Spastic para... |
OMIM:610357 |
| Lichtenstein-Knorr Syndrome |
|
Dysmetria, Ataxia, Dysdiadochokinesis, Action tremor, Limb ataxia, Gait ataxia |
OMIM:616291 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sensation in ... |
OMIM:604187 |
| Spinocerebellar Ataxia 19 |
|
Postural tremor, Myoclonus, Cogwheel rigidity, Progressive cerebellar ataxia, Truncal ataxia, Lim... |
OMIM:607346 |
| Hypotrichosis 8 |
|
Sparse eyelashes, Dry hair, Ridged nail, Sparse and thin eyebrow, Coarse hair, Sparse scalp hair,... |
OMIM:278150 |
| Autosomal Dominant Spastic Paraplegia Type 3 |
|
Babinski sign, Gait disturbance, Rigidity, Frequent falls, Spastic gait, Hyperesthesia, Lower lim... |
ORPHA:100984 |
| Ectodermal Dysplasia 7, Hair/Nail Type |
|
Sparse eyelashes, Dystrophic fingernails, Onycholysis, Dystrophic toenail, Brittle hair, Alopecia... |
OMIM:614929 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Dystonia, Dysmetria, Intention tremor, Hypertonia, Broad-based gait, Generalized hypotonia, Abnor... |
OMIM:617964 |
| Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Dystonia, Chorea, Myoclonus, Inability to walk, Hyperkinetic movements, Spasticity, Oculogyric cr... |
OMIM:614254 |
| Roussy-Lévy Syndrome |
|
Postural tremor, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired pai... |
ORPHA:3115 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Dysmetria, Kyphosis, Ataxia, Limb ataxia, Gait ... |
OMIM:610743 |
| Glut1 Deficiency Syndrome 1 |
|
Paralysis, Babinski sign, Choreoathetosis, Myoclonus, Hemiparesis, Ataxia, Spasticity |
OMIM:606777 |
| Spastic Paraplegia 48, Autosomal Recessive |
|
Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, Broad-based gait, Spastic paraplegia, Par... |
OMIM:613647 |
| Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Babinski sign, Gait disturbance, Limb fasciculations, Spastic gait, Tongue fasciculations, Spasti... |
ORPHA:329475 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Kyph... |
OMIM:180800 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Kyphoscoliosis, Tremor, Ataxia, Distal amyotrophy |
OMIM:619099 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Parkinsonism, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:162350 |
| Dystonia 11, Myoclonic |
|
Tremor, Myoclonus, Torticollis |
OMIM:159900 |
| Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Choreoathetosis, Paraparesis, Ataxia, Tetraparesis, Hypotonia, Lethargy |
ORPHA:27 |
| Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency |
|
Myotonia |
ORPHA:371 |
| Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Small for gestational age, Limb muscle weakness, Failure to thriv... |
OMIM:604320 |
| Encephalopathy, Recurrent, Of Childhood |
|
Athetosis, Babinski sign, Choreoathetosis, Chorea, Intention tremor, Incoordination, Truncal atax... |
OMIM:130950 |
| Autosomal Dominant Cerebellar Ataxia |
|
Impaired proprioception, Torticollis, Fasciculations, Paraparesis, Akinesia, Tongue fasciculation... |
ORPHA:99 |
| Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Abnormal sperm morphology, Infertility |
OMIM:608653 |
| Angioma Serpiginosum, X-Linked |
|
Fine hair, Nail dystrophy, Sparse hair |
OMIM:300652 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Babinski sign, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia |
OMIM:615362 |
| Hereditary Geniospasm |
|
Chin myoclonus |
ORPHA:53372 |
| Myofibrillar Myopathy 10 |
|
Ankle flexion contracture, Percussion myotonia, EMG: myopathic abnormalities, Knee flexion contra... |
OMIM:619040 |
| Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Clumsiness, Dystonia, Babinski sign, Frequent falls, Dysmetria, Intention tremor, Oculomotor apra... |
ORPHA:453521 |
| Osteopenia And Sparse Hair |
|
Sparse hair |
OMIM:259690 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Dystonia, Kyphosis, Ataxia, Inability to walk, Waddling gait, Broad-based gait, Cerebral atrophy,... |
OMIM:616756 |
| Laryngeal Abductor Paralysis With Cerebellar Ataxia And Motor Neuropathy |
|
Paralysis, Limb fasciculations, Dysmetria, Progressive cerebellar ataxia, Gait ataxia |
OMIM:606183 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Dysmetria, Myoclonus, Ataxia, Attention deficit hyperactivity disorder, Difficulty walking |
OMIM:619191 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Babinski sign, Dysmetria, Lower limb spasticity, Distal sensory impairment, Ataxia, Spastic parap... |
OMIM:616907 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Clumsiness, Myoclonus, Abnormality of extrapyramidal motor function, Tremor, Ataxia, Spasticity, ... |
ORPHA:79262 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Dystonia, Paresthesia, Choreoathetosis, Paroxysmal dyskinesia, Episodic ataxia, Spastic paraplegi... |
ORPHA:53583 |
| Polyendocrine-Polyneuropathy Syndrome |
|
Dystonia, Ataxia, Postnatal growth retardation, Short stature |
OMIM:616113 |
| Spermatogenic Failure 5 |
|
Functional abnormality of male internal genitalia, Male infertility |
OMIM:243060 |
| Dystonia With Ringbinden |
|
Dystonia, Gait disturbance, Chorea |
OMIM:224550 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Extrapyramidal dyskinesia, Paraparesis, Apraxia, Tetraparesis, Parkinsonism |
OMIM:105550 |
| Porphyria, Acute Hepatic |
|
Paralysis, Respiratory paralysis |
OMIM:612740 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Gait disturbance, Dysdiadochokinesis, Bradykinesia, Rigidity |
OMIM:609161 |
| Monilethrix |
|
Nail dystrophy, Brittle hair, Alopecia, Abnormality of hair texture, Nail dysplasia, Sparse hair |
OMIM:158000 |
| Hyperkalemic Periodic Paralysis |
|
Myotonia, Myopathy, Skeletal muscle atrophy, Paresthesia, Skeletal muscle hypertrophy, Cerebral p... |
ORPHA:682 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Babinski sign, Dystonia, Gait disturbance, Rigidity, Myoclonus, Bradykinesia, Tr... |
ORPHA:314632 |
| Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Babinski sign, Lower limb spasticity, Exaggerated startle response, Fasciculations, Spastic tetra... |
OMIM:618598 |
| Atypical Juvenile Parkinsonism |
|
Involuntary movements, Dystonia, Rigidity, Myoclonus, Shuffling gait, Bradykinesia, Resting tremo... |
ORPHA:391411 |
| Palmoplantar Keratoderma And Woolly Hair |
|
Sparse eyelashes, Woolly scalp hair, Sparse and thin eyebrow, Woolly hair, Leukonychia, Sparse sc... |
OMIM:616099 |
| Dystonia, Dopa-Responsive |
|
Postural tremor, Dystonia, Babinski sign, Writer's cramp, Torticollis, Cogwheel rigidity, Bradyki... |
OMIM:128230 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Dysmetria, Loss of ability to walk, Ataxia, Spasticity, Generalized hypotonia |
OMIM:617916 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Dystonia, Myoclonus, Tremor, Ataxia, Hyperactivity, Tetraparesis, Spasticity, Abnormal pyramidal ... |
OMIM:615924 |
| Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations |
OMIM:608030 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Clonus, Opisthotonus, Rigidity, Choreoathetosis, Chorea, Myoclonus, Abnormality of extr... |
ORPHA:13 |
| X-Linked Adrenoleukodystrophy |
|
Paralysis, Clumsiness, Gait disturbance, Paraparesis, Progressive spastic paraparesis, Hemiparesi... |
ORPHA:43 |
| Baker-Gordon Syndrome |
|
Involuntary movements, Dystonia, Choreoathetosis, Stereotypy, Ataxia, Inability to walk, Hyperkin... |
OMIM:618218 |
| Hair Defect With Photosensitivity And Mental Retardation |
|
Sparse eyelashes, Brittle hair, Coarse hair, Sparse and thin eyebrow, Sparse hair |
OMIM:234030 |
| Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Hyperkinetic movements, Fasciculations |
OMIM:611721 |
| Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Myotonia, Kyphoscoliosis, Hyperactivity, Premature ovarian insufficiency, Scoliosis |
ORPHA:391307 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Dystonia, Babinski sign, Knee clonus, Spastic gait, Lower limb spasticity, Impaired vibration sen... |
OMIM:607565 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Dystonia, Babinski sign, Dysmetria, Lower limb spasticity, Spastic tetraparesis, Ataxia, Difficul... |
OMIM:612319 |
| Spinocerebellar Ataxia Type 11 |
|
Dystonia, Gait imbalance, Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking |
ORPHA:98767 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Resting tremor, Ankle clonus, Spast... |
ORPHA:363654 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Dystonia, Gait disturbance, Rigidity, Bradykinesia, Tremor, Parkinsonism |
OMIM:600116 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
| Thiamine Metabolism Dysfunction Syndrome 5 (Episodic Encephalopathy Type) |
|
Dystonia, Ataxia, Spasticity, Generalized hypotonia, Hypotonia |
OMIM:614458 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Parkinsonism, Rigidity, Chorea, Bradykinesia, Tremor, Hypertonia, Hyperkinetic movements, Abnorma... |
OMIM:613135 |
| Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Progressive spasticity, Babinski sign, Progressive spastic paraparesis, Ankle clonus, Upper motor... |
ORPHA:506353 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Paralysis, Parkinsonism |
OMIM:105500 |
| Adrenoleukodystrophy |
|
Impaired vibration sensation at ankles, Paraparesis, Attention deficit hyperactivity disorder, Sl... |
OMIM:300100 |
| Autosomal Spastic Paraplegia Type 58 |
|
Babinski sign, Clonus, Short stature, Frequent falls, Torticollis, Dysmetria, Chorea, Spastic ata... |
ORPHA:397946 |
| Paroxysmal Exertion-Induced Dyskinesia |
|
Involuntary movements, Dystonia, Paresthesia, Choreoathetosis, Chorea, Paroxysmal dyskinesia, Low... |
ORPHA:98811 |
| Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Dystonia, Limb hypertonia, Bradykinesia, Attention deficit hyperactivity disorder, Hypertonia, Br... |
OMIM:617384 |
| Idiopathic Camptocormia |
|
Dystonia, Spinal canal stenosis, Abnormal intervertebral disk morphology, Myotonia, Myositis, Amy... |
ORPHA:1320 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Paralysis, Choreoathetosis, Chorea, Myoclonus, Extrapyramidal dyskinesia, Hemiparesis, Ataxia, Hy... |
ORPHA:71277 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Proximal amyotrophy, Cerebellar atrophy, Vertebral fusion, Macroglossia, Achilles tendon contract... |
OMIM:606612 |
| Primary Angiitis Of The Central Nervous System |
|
Paralysis, Hemiparesis, Paraparesis, Ataxia, Tetraparesis, Parkinsonism |
ORPHA:140989 |
| Neuronopathy, Distal Hereditary Motor, Type Viii |
|
Nonprogressive muscular atrophy, Hip contracture, Proximal lower limb amyotrophy, Arthrogryposis ... |
OMIM:600175 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage g... |
OMIM:118220 |
| Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Dysmetria, Ataxia, Truncal ataxia |
OMIM:617584 |
| Myotonia, Potassium-Aggravated |
|
Myotonia |
OMIM:608390 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F |
|
Impaired temperature sensation, Upper limb amyotrophy, Impaired pain sensation, Limb fasciculatio... |
ORPHA:99940 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Dystonia, Dysmetria, Myoclonus, Spastic ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, S... |
OMIM:614487 |
| Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Triceps weakness, Weakness of the intrinsic hand muscles, Fasciculations, Spinal muscular atrophy... |
OMIM:615575 |
| Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Ataxia, Nail dystrophy, Alopecia, Sparse hair |
OMIM:616353 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Gait disturbance, Tremor, Inability to walk, Difficulty walking, Spastic paraparesis, Somatic sen... |
ORPHA:101077 |
| Monilethrix |
|
Fine hair, Brittle hair, Abnormal eyebrow morphology, Abnormality of the nail, Slow-growing hair,... |
ORPHA:573 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Dysmetria, Abnormality of extrapyramidal motor function, Intention tremor, Ataxia, Spasticity |
OMIM:616140 |
| Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
| Spinocerebellar Ataxia 5 |
|
Dysmetria, Intention tremor, Impaired vibratory sensation, Dysdiadochokinesis, Incoordination, Up... |
OMIM:600224 |
| Mitochondrial Complex I Deficiency, Nuclear Type 17 |
|
Dystonia, Gait disturbance, Rigidity, Ataxia, Generalized hypotonia |
OMIM:618239 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Hand tremor, Myoclonus, Vocal tremor, Upper limb postural tremor, Blepharospasm |
ORPHA:420485 |
| Spastic Paraplegia 75, Autosomal Recessive |
|
Babinski sign, Dysmetria, Spastic dysarthria, Hypotonia, Spastic paraparesis, Neonatal hypotonia |
OMIM:616680 |
| Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Palatal myoclonus, Spastic paraparesis, Truncal ataxia |
OMIM:113610 |
| Spinocerebellar Ataxia Type 14 |
|
Rigidity, Myoclonus, Tremor, Progressive cerebellar ataxia, Limb ataxia, Gait ataxia |
ORPHA:98763 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Ataxia, Myoclonus, Difficulty walking |
OMIM:614018 |
| Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Tongue fasciculations, Limb fasciculations |
OMIM:253400 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Myoclonus |
OMIM:616230 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in lower limbs, Shoulder flexion contracture, Skeletal muscle atrophy, S... |
OMIM:619566 |
| Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Dysmetria, Chorea, Ataxia, Inability to walk, Gait ataxia, Muscular hypotonia of the trunk |
OMIM:618501 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis |
OMIM:162500 |
| Nemaline Myopathy 4 |
|
Skeletal muscle atrophy, Limb muscle weakness, Facial diplegia, Kyphoscoliosis, Waddling gait, Di... |
OMIM:609285 |
| Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome |
|
Alopecia universalis, Abnormal eyelash morphology, Sparse body hair, Sparse scalp hair |
ORPHA:1008 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Parkinsonism, Gait disturbance, Tremor by anatomical site, Bradykinesia, Intenti... |
ORPHA:98762 |
| X-Linked Dystonia-Parkinsonism |
|
Frequent falls, Chorea, Hand tremor, Myoclonus, Shuffling gait, Bradykinesia, Focal dystonia, Par... |
ORPHA:53351 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
| Spermatogenic Failure 12 |
|
Infertility, Azoospermia |
OMIM:615413 |
| Joubert Syndrome 24 |
|
Gait disturbance, Dysmetria, Ataxia, Spasticity, Generalized hypotonia, Hypotonia |
OMIM:616654 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Myotonia, Shoulder flexion contracture, Skeletal muscle atrophy, Hip contracture, Skeletal muscle... |
OMIM:255800 |
| Ataxia-Oculomotor Apraxia 4 |
|
Tetraplegia, Dystonia, Ataxia, Oculomotor apraxia |
OMIM:616267 |
| Oculotrichodysplasia |
|
Sparse eyelashes, Sparse lateral eyebrow, Sparse scalp hair, Sparse pubic hair, Generalized hypot... |
OMIM:257960 |
| Restless Legs Syndrome, Susceptibility To, 1 |
|
Myoclonus |
OMIM:102300 |
| Spastic Paraplegia 20, Autosomal Recessive |
|
Babinski sign, Knee clonus, Upper limb spasticity, Dysmetria, Spastic gait, Lower limb spasticity... |
OMIM:275900 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Rigidity, Abnormality of extrapyramidal motor function, Bradykinesia, Tremor, Parkinson... |
OMIM:300894 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Limb muscle weakness, Steppage g... |
OMIM:118200 |
| Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Babinski sign, Dysmetria, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Incoordination, Truncal... |
OMIM:616204 |
| Woolly Hair, Hypotrichosis, Everted Lower Lip, And Outstanding Ears |
|
Sparse hair, Woolly hair |
OMIM:278200 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Paralysis |
OMIM:605285 |
| Scheuermann Disease |
|
Morbus Scheuermann, Kyphosis |
OMIM:181440 |
| Woolly Hair |
|
Fine hair, Sparse lateral eyebrow, Brittle hair, Abnormality of hair texture, Woolly hair, Slow-g... |
ORPHA:170 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Dystonia, Axonal loss, Skeletal muscle atrophy, Kyphoscoliosis, Peripheral demyelination, Ataxia,... |
OMIM:616684 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Paresthesia, Dysmetria, Hypogonadotropic hypogonadism, Motor axonal neuropathy, Acute rhabdomyoly... |
ORPHA:48431 |
| Spinocerebellar Ataxia Type 20 |
|
Kinetic tremor, Tremor by anatomical site, Bradykinesia, Isometric tremor, Intention tremor, Lary... |
ORPHA:101110 |
| Hypotrichosis 12 |
|
Dry hair, Sparse or absent eyelashes, Slow-growing hair, Aplasia/Hypoplasia of the eyebrow, Spars... |
OMIM:615885 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Tremor, Paroxysmal dystonia, Myoclonus, Writer's cramp |
OMIM:608105 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Spasticity, Waddling gait, Tip-toe gait, Fasciculations |
OMIM:615290 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, Myoclonus |
OMIM:600143 |
| Spermatogenic Failure 46 |
|
Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male infertility, S... |
OMIM:619095 |
| Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations |
|
Oculomotor apraxia, Inability to walk, Ataxia, Generalized hypotonia, Unsteady gait |
OMIM:618273 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Babinski sign, Dystonia, Short stature, Myoclonus, Ataxia, Spastic diplegia |
OMIM:619065 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Babinski sign, Clumsiness, Dysmetria, Progressive gait ataxia, Oculomotor apraxi... |
ORPHA:284324 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Clumsiness, Gait disturbance, Acroparesthesia, Frequent falls, Loss of ambulation, Muscular hypot... |
ORPHA:206443 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis |
OMIM:613710 |
| Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Vocal cord paralysis |
OMIM:607641 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Hypertrophic nerv... |
OMIM:145900 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Upper limb dysmetria, Infertility, Cerebellar atrophy, Limb muscle weakness, Spastic gait, Kyphos... |
OMIM:614409 |
| Hsd10 Disease |
|
Gait disturbance, Rigidity, Choreoathetosis, Myoclonus, Tremor, Ataxia, Infantile muscular hypoto... |
ORPHA:391417 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Dysmetria, Positive Romberg sign, Distal sensory impairment, Oculomotor apraxia, Ataxia, Dysdiado... |
OMIM:617633 |
| Joubert Syndrome 27 |
|
Oculomotor apraxia, Ataxia, Generalized hypotonia |
OMIM:617120 |
| Autosomal Recessive Spastic Paraplegia Type 48 |
|
Spastic gait, Myoclonus, Lower limb spasticity, Ataxia, Broad-based gait, Parkinsonism, Progressi... |
ORPHA:306511 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Waddling gait, Small for gestational age, Kyphosis |
OMIM:618392 |
| Familial Dyskinesia And Facial Myokymia |
|
Dystonia, Limb hypertonia, Chorea, Myoclonus, Resting tremor, Difficulty walking |
ORPHA:324588 |
| Spinocerebellar Ataxia 32 |
|
Testicular atrophy, Ataxia, Infertility, Azoospermia |
OMIM:613909 |
| Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Dystonia, Dysmetria, Chorea, Bradykinesia, Abnormal pyramidal sign, Ataxia, Parkinsonism |
OMIM:618317 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Dysmetria, Myoclonus, Lower limb spasticity, Impaired tandem gait, Tremor, Ataxia |
OMIM:619028 |
| Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Hypogonadism, Infertility, Primary amenorrhea, Azoospermia |
OMIM:229070 |
| Mental Retardation, X-Linked 82 |
|
Scoliosis, Kyphosis |
OMIM:300518 |
| Coasy Protein-Associated Neurodegeneration |
|
Parkinsonism, Oromandibular dystonia, Difficulty walking, Spastic paraparesis |
ORPHA:397725 |
| Ectodermal Dysplasia, Trichoodontoonychial Type |
|
Abnormal eyelash morphology, Abnormal toenail morphology, Aplasia/Hypoplasia of the eyebrow, Spar... |
ORPHA:1818 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Progressive spasticity, Dystonia, Babinski sign, Head titubation, Rigidity, Choreoathetosis, Inte... |
OMIM:608804 |
| Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations |
OMIM:271200 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Flexion contracture, Kyphosis |
OMIM:168400 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Babinski sign, Gait disturbance, Dystonia, Rigidity, Choreoathetosis, Frequent falls, Myoclonus, ... |
ORPHA:225154 |
| Spermatogenic Failure 56 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:619515 |
| Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Gait disturbance, Ataxia, Truncal ataxia, Unsteady gait, Limb ataxia |
ORPHA:284271 |
| Myotonic Dystrophy 1 |
|
Testicular atrophy, Myotonia, Facial diplegia, Hypogonadism, Cerebral atrophy |
OMIM:160900 |
| Foxg1 Syndrome |
|
Dystonia, Severe postnatal growth retardation, Short stature, Choreoathetosis, Myoclonus, Stereot... |
ORPHA:561854 |
| Aredyld |
|
Generalized hypotrichosis |
OMIM:207780 |
| Spermatogenic Failure 43 |
|
Absent sperm axoneme central pair complex, Reduced sperm motility, Coiled sperm flagella, Male in... |
OMIM:618751 |
| Spermatogenic Failure 49 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619144 |
| Spermatogenic Failure 45 |
|
Reduced sperm motility, Coiled sperm flagella, Male infertility, Short sperm flagella, Absent spe... |
OMIM:619094 |
| Familial Scheuermann Disease |
|
Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:3135 |
| Tooth Agenesis, Selective, 8 |
|
Sparse hair, Sparse eyebrow |
OMIM:617073 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypertonia, Myoclonus, Choreoathetosis |
OMIM:261630 |
| Spinocerebellar Ataxia 44 |
|
Frequent falls, Dysmetria, Ataxia, Dysdiadochokinesis, Spasticity, Gait ataxia |
OMIM:617691 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Myoclonus, Abnormal pyramidal sign |
OMIM:612016 |
| Hyperekplexia 2 |
|
Hypertonia, Myoclonus, Exaggerated startle response |
OMIM:614619 |
| Myotonic Dystrophy 2 |
|
Oligospermia, Myotonia, Type 2 muscle fiber atrophy, Hypogonadism |
OMIM:602668 |
| Juvenile Huntington Disease |
|
Dystonia, Rigidity, Chorea, Myoclonus, Bradykinesia, Progressive cerebellar ataxia, Ataxia, Hyper... |
ORPHA:248111 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral dysmyelination, Peripheral axonal neuropathy, Skeletal muscle atrophy, Skeletal muscle... |
ORPHA:101082 |
| Urocanic Aciduria |
|
Ataxia, Truncal ataxia, Broad-based gait, Action tremor, Gait ataxia |
ORPHA:210128 |
| Hyperprolactinemia |
|
Menorrhagia, Infertility, Oligomenorrhea |
OMIM:615555 |
| Spermatogenic Failure, X-Linked, 3 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Male ... |
OMIM:301059 |
| Cerebellar Ataxia-Ectodermal Dysplasia Syndrome |
|
Fine hair, Ataxia, Sparse hair |
ORPHA:1174 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Myoclonus, Gait ataxia |
OMIM:616540 |
| X-Linked Spinocerebellar Ataxia Type 3 |
|
Hypotonia, Ataxia |
ORPHA:85297 |
| Spermatogenic Failure 54 |
|
Oligospermia, Cryptozoospermia, Reduced sperm motility, Abnormal sperm axoneme morphology, Coiled... |
OMIM:619379 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Abnormal anterior horn cell morphology, Peripheral axonal neuropathy, Skeletal muscle a... |
OMIM:611890 |
| Primary Lateral Sclerosis |
|
Babinski sign, Weakness due to upper motor neuron dysfunction, Spastic gait, Spastic dysarthria, ... |
ORPHA:35689 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired proprioception, Failure to thrive, Upper limb hypertonia, Kyphosis, Impaired vibratory s... |
ORPHA:319199 |
| Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Babinski sign, Spasticity, Abnormal pyramidal sign, Fasciculations |
OMIM:602099 |
| Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Babinski sign, Gait disturbance, Rigidity, Frequent falls, Hand tremor, Shuffling gait,... |
ORPHA:289560 |
| Crandall Syndrome |
|
Fine hair, Brittle hair, Alopecia, Pili torti, Aplasia/Hypoplasia of the eyebrow, Sparse body hair |
ORPHA:202 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Myopathy, Generalized amyotrophy, Kyphosis, Spinal rigidity, Flexion contracture, Scoliosis |
OMIM:618323 |
| Spinocerebellar Ataxia 34 |
|
Fasciculations, Intention tremor, Ataxia, Dysdiadochokinesis, Spasticity, Abnormal pyramidal sign... |
OMIM:133190 |
| Developmental And Epileptic Encephalopathy 82 |
|
Inability to walk, Spastic paraparesis, Spastic tetraplegia, Neonatal hypotonia |
OMIM:618721 |
| Salla Disease |
|
Athetosis, Ataxia, Inability to walk, Spasticity, Generalized hypotonia, Hypotonia |
OMIM:604369 |
| Hypotrichosis 6 |
|
Sparse eyelashes, Brittle hair, Pili torti, Sparse and thin eyebrow, Sparse hair |
OMIM:607903 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Postural tremor, Decreased motor nerve conduction velocity, Upper limb amyotrophy, Kyphoscoliosis... |
ORPHA:99950 |
| Peroxisome Biogenesis Disorder 8B |
|
Dysmetria, Ataxia, Spasticity, Spastic paraparesis, Neonatal hypotonia |
OMIM:614877 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Myoclonus, Fasciculations, Tremor, Tongue fasciculations, Difficulty walking |
OMIM:159950 |
| Spermatogenic Failure 42 |
|
Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility, Short sperm ... |
OMIM:618745 |
| Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Myoclonus, Spasticity |
OMIM:545000 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Postural tremor, Babinski sign, Clumsiness, Ataxia, Impaired vibratory sensation, Limb ataxia, Ga... |
OMIM:609270 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration |
OMIM:162100 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Steppage gait, Kyphoscoliosis, D... |
OMIM:604563 |
| Spermatogenic Failure 39 |
|
Oligospermia, Reduced sperm motility, Coiled sperm flagella, Tapered sperm head, Male infertility... |
OMIM:618643 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Clumsiness, Limb myoclonus, Frequent falls, Myoclonus, Tremor, Eyelid myoclonus, Inability to wal... |
ORPHA:2590 |
| Dystonia 9 |
|
Dystonia, Paresthesia, Choreoathetosis, Episodic ataxia, Spastic paraplegia, Abnormal pyramidal sign |
OMIM:601042 |
| Spinocerebellar Ataxia Type 36 |
|
Babinski sign, Limb myoclonus, Dysmetria, Hand tremor, Fasciculations, Intention tremor, Attentio... |
ORPHA:276198 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Dysmetria, Myoclonus, Spastic dysarthria, Oculomotor apraxia, Ataxia, Dysdiadochokinesi... |
ORPHA:313772 |
| Spermatogenic Failure 58 |
|
Oligospermia, Immotile sperm, Irregularly shaped sperm tail, Reduced progressive sperm motility, ... |
OMIM:619585 |
| Spermatogenic Failure 40 |
|
Oligospermia, Immotile sperm, Coiled sperm flagella, Male infertility, Short sperm flagella, Abse... |
OMIM:618664 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Postural tremor, Babinski sign, Rigidity, Myoclonus, Abnormality of extrapyramidal motor function... |
ORPHA:101150 |
| Creutzfeldt-Jakob Disease |
|
Myoclonus, Gait ataxia, Extrapyramidal muscular rigidity, Hemiparesis |
OMIM:123400 |
| Osteomesopyknosis |
|
Infertility |
OMIM:166450 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Dystonia, Babinski sign, Frequent falls, Dysmetria, Spastic gait, Lower limb spasticity, Ataxia, ... |
OMIM:609195 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Gait imbalance, Falls, Spastic dysarthria, Loss of ability to walk, Oculomotor apraxia, Freezing ... |
ORPHA:240094 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Hypogonadism, Kyphosis, Gait disturbance, Congenital muscular dystrophy |
ORPHA:1875 |
| Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Testicular atrophy, Limb muscle weakness, Fasciculations, Tremor, Calf muscle hypertrophy, Decrea... |
OMIM:313200 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Proximal muscle weakness in lower limbs, Babinski sign, Skeletal muscle atrophy, Limb muscle weak... |
OMIM:613954 |
| Combined Oxidative Phosphorylation Deficiency 6 |
|
Involuntary movements, Ragged-red muscle fibers, Skeletal muscle atrophy, Fasciculations, Tetrapl... |
OMIM:300816 |
| Marinesco-Sjogren Syndrome |
|
Myopathy, Skeletal muscle atrophy, Failure to thrive, Rimmed vacuoles, Kyphosis, Ataxia, Flexion ... |
OMIM:248800 |
| Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Dystonia, Kinetic tremor, Chorea, Fasciculations, Progressive cerebellar ataxia,... |
ORPHA:98756 |
| Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
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Stereotypical hand wringing, Hyperkinetic movements |
ORPHA:397933 |
| Spinocerebellar Ataxia Type 19/22 |
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Impaired vibration sensation at ankles, Poor coordination, Cogwheel rigidity, Ataxia, Slurred spe... |
ORPHA:98772 |
| Trichodental Dysplasia |
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Fine hair, Brittle hair, Sparse hair, Slow-growing hair |
OMIM:601453 |
| Deafness-Infertility Syndrome |
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Abnormal spermatogenesis, Male infertility, Reduced sperm motility |
OMIM:611102 |
| Spinocerebellar Ataxia 17 |
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Dystonia, Rigidity, Dysmetria, Chorea, Myoclonus, Bradykinesia, Intention tremor, Ataxia, Apraxia... |
OMIM:607136 |
| Adrenomyeloneuropathy |
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Peripheral axonal degeneration, Male sexual dysfunction, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
| Childhood-Onset Spasticity With Hyperglycinemia |
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Progressive spasticity, Babinski sign, Myoclonus, Spastic dysarthria, Ataxia, Spastic diplegia, H... |
ORPHA:401866 |
| Neuropathy, Hereditary Sensory And Autonomic, Adult-Onset, With Anosmia |
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Distal sensory impairment, Peripheral axonal degeneration, Decreased number of peripheral myelina... |
OMIM:608720 |
| Epilepsy, Early-Onset, Vitamin B6-Dependent |
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Clonus, Myoclonus, Hypertonia |
OMIM:617290 |
| Spastic Paraplegia 39, Autosomal Recessive |
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Babinski sign, Gait disturbance, Ataxia, Progressive spastic paraplegia |
OMIM:612020 |
| Sabinas Brittle Hair Syndrome |
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Dry hair, Nail dystrophy, Brittle hair, Nail dysplasia, Sparse hair |
OMIM:211390 |
| Pelizaeus-Merzbacher Disease, Classic Form |
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Athetosis, Dystonia, Dystonic gait, Head tremor, Abnormality of extrapyramidal motor function, Sp... |
ORPHA:280219 |
| Lopes-Maciel-Rodan Syndrome |
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Dystonia, Cerebellar atrophy, Caudate atrophy, Bradykinesia, Kyphosis, Tremor, Cerebral atrophy, ... |
OMIM:617435 |
| Spermatogenic Failure 47 |
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Oligospermia, Immotile sperm, Male infertility, Short sperm flagella, Absent sperm flagella |
OMIM:619102 |
| Joubert Syndrome 25 |
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Oculomotor apraxia, Ataxia, Generalized hypotonia |
OMIM:616781 |
| Gm1-Gangliosidosis, Type Iii |
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Dystonia, Skeletal muscle atrophy, Platyspondyly, Kyphosis, Diffuse cerebral atrophy, Scoliosis, ... |
OMIM:230650 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
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Clumsiness, Dysmetria, Myoclonus, Ataxia, Dysdiadochokinesis |
OMIM:256731 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
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Dystonia, Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Lethargy |
OMIM:233910 |
| Asherman Syndrome |
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Secondary amenorrhea, Infertility, Oligomenorrhea, Dysmenorrhea, Abnormality of the menstrual cyc... |
ORPHA:137686 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
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Eyelid myoclonus, Myoclonus |
OMIM:618357 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
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Kyphosis, Spinal rigidity, Hyperlordosis, Increased variability in muscle fiber diameter, Flexion... |
OMIM:300718 |
| Teeth, Congenital Absence Of, With Taurodontia And Sparse Hair |
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Sparse hair |
OMIM:272980 |
| Nystagmus, Hereditary Vertical |
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Ataxia, Abnormal vestibulo-ocular reflex |
OMIM:164150 |
| Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
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Hyperactivity, Small for gestational age, Kyphosis |
ORPHA:85288 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Dystonia, Choreoathetosis, Tremor, Oculomotor apraxia, Ataxia, Hyperactivity, Spasticity, Muscula... |
OMIM:612716 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
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Involuntary movements, Limb myoclonus, Rigidity, Frequent falls, Limb apraxia, Bradykinesia, Trem... |
ORPHA:240103 |
| Spinocerebellar Ataxia 13 |
|
Limb dysmetria, Progressive cerebellar ataxia, Generalized hypotonia, Hypotonia, Abnormal pyramid... |
OMIM:605259 |
| Beta-Propeller Protein-Associated Neurodegeneration |
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Dystonia, Rigidity, Bradykinesia, Tremor, Parkinsonism, Spastic paraparesis |
ORPHA:329284 |
| Schopf-Schulz-Passarge Syndrome |
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Small nail, Apocrine hidrocystoma, Onycholysis, Ridged nail, Thin nail, Narrow nail, Sparse hair,... |
OMIM:224750 |
| Hypotrichosis And Rec |
