Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Decreased nerve conduction velocity, Onion bulb formation, Peripheral demyelination |
OMIM:608236 |
Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Decreased... |
OMIM:214400 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Spastic Paraplegia 24, Autosomal Recessive |
|
Spasticity, Spastic paraplegia, Clonus, Tip-toe gait |
OMIM:607584 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... |
ORPHA:2932 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... |
OMIM:601098 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Inability to walk, Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasti... |
ORPHA:431329 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Inability to walk, Optic atrophy, CNS hypomyelinatio... |
ORPHA:280234 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Segmental... |
OMIM:606482 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607734 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Early-Onset Generalized Limb-Onset Dystonia |
|
Hypertonia, Gait disturbance |
ORPHA:256 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Ataxia, CNS hypomyelination |
ORPHA:88637 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Segmental peripheral demyelination/remye... |
OMIM:162500 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Axonal loss, Peri... |
OMIM:611228 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decre... |
OMIM:608673 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Oocyte/Zygote/Embryo Maturation Arrest 9 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:619011 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Demyelinating motor neuropathy, Tremor, Motor conducti... |
ORPHA:206594 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Decreased number of lar... |
OMIM:614895 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13 |
|
Decreased compound muscle action potential amplitude, Babinski sign, Difficulty walking, Frequent... |
OMIM:619112 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Peripheral hypomyelination, Abno... |
OMIM:605253 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Peripheral axonal neuropathy, Onion bulb formation, Peripheral demyelination, Axonal degeneration... |
OMIM:620378 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Gait disturbance, Abnormal nerve conduction velocity |
ORPHA:101075 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118210 |
Oocyte/Zygote/Embryo Maturation Arrest 2 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:616780 |
Oocyte/Zygote/Embryo Maturation Arrest 4 |
|
Oocyte arrest at metaphase I, Female infertility |
OMIM:617743 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Oocyte/Zygote/Embryo Maturation Arrest 14 |
|
Oocyte maturation arrest, Female infertility |
OMIM:620276 |
Oocyte/Zygote/Embryo Maturation Arrest 5 |
|
Lack of oocyte pronucleus formation, Female infertility |
OMIM:617996 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Increased circul... |
OMIM:202700 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... |
OMIM:180800 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
CNS demyelination, Peripheral demyelination |
OMIM:250850 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Hand tremor... |
ORPHA:352675 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction |
OMIM:612577 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Oocyte/Zygote/Embryo Maturation Arrest 16 |
|
Infertility |
OMIM:617234 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 17 |
|
Ataxia, Cavitating leukodystrophy |
OMIM:619061 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Oocyte/Zygote/Embryo Maturation Arrest 8 |
|
Female infertility |
OMIM:619009 |
Oocyte/Zygote/Embryo Maturation Arrest 13 |
|
Female infertility |
OMIM:620154 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Immunodeficiency 15B |
|
Decreased circulating antibody level, Agammaglobulinemia, Monocytosis, Decreased lymphocyte proli... |
OMIM:615592 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118200 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Impaired pain sensation, Decreased compound muscle action potential amplitude, Impaired distal vi... |
OMIM:618279 |
Charcot-Marie-Tooth Disease Type 1A |
|
Decreased motor nerve conduction velocity, Sensory ataxia, Distal sensory impairment, Acute demye... |
ORPHA:101081 |
Oocyte/Zygote/Embryo Maturation Arrest 12 |
|
Female infertility |
OMIM:619697 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Onion bulb formation |
OMIM:182815 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Decreased nerve conduction velocity, Gait disturbance |
ORPHA:101078 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Abnormal myelination, Spas... |
ORPHA:401820 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Difficulty... |
OMIM:613608 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Delayed CNS myelination, Cerebral atrophy |
OMIM:618875 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Gait ataxia |
ORPHA:217012 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor function, Difficul... |
ORPHA:101001 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:609260 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Somatic sensory dysfunct... |
ORPHA:3115 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Waddling gait, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve cond... |
OMIM:609311 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Dystonia, Ataxia, Facial palsy, Demyelinating motor ne... |
OMIM:608804 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8 |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... |
OMIM:618912 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal degeneration, Decreased... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Segmental peripheral demyelination/remyelination, Steppage gait, Difficulty walking, Onion bulb f... |
OMIM:606483 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Gait disturbance, Abnormal n... |
ORPHA:99014 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Premature Ovarian Failure 19 |
|
Secondary amenorrhea, Premature ovarian insufficiency, Irregular menstruation, Female infertility |
OMIM:619245 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Impaired vibration sensation in the lower limbs, Babinski sign, Spastic pa... |
OMIM:615625 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Hypsarrhythmia, Atrophy/Degeneration a... |
OMIM:613477 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Acute demyelinating polyneuropathy, Unsteady gait, Onion bulb formation, Gait ataxia |
ORPHA:98916 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Babinski sign, Spa... |
OMIM:618404 |
Oocyte/Zygote/Embryo Maturation Arrest 10 |
|
Female infertility |
OMIM:619176 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Dyst... |
ORPHA:280219 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Reduced natural killer cell activity, Leukocytosis, Decreased circulating total IgM... |
OMIM:619281 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Torticollis, Head titubation, Abnormal pyramidal sign, Truncal ataxia, Limb ataxia, CNS hypomyeli... |
OMIM:617560 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:605589 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Distal sensory... |
OMIM:600361 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Autoimmune thrombocytopenia, Decreased nerve conduction velocity, Optic... |
OMIM:245200 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Charcot-Marie-Tooth Disease Type 4A |
|
Impaired distal proprioception, Decreased nerve conduction velocity, Decreased number of large pe... |
ORPHA:99948 |
Leukodystrophy, Hypomyelinating, 11 |
|
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity |
OMIM:616494 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased number of large... |
OMIM:615376 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Peroxisome Biogenesis Disorder 8B |
|
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... |
OMIM:614877 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:605588 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Spermatogenic Failure 12 |
|
Azoospermia, Infertility |
OMIM:615413 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Unsteady gait, Slurred speech, Clumsiness... |
ORPHA:2386 |
Leukodystrophy, Hypomyelinating, 5 |
|
Decreased motor nerve conduction velocity, Truncal titubation, Babinski sign, Abnormal pyramidal ... |
OMIM:610532 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, CNS hypomyelination, Brain atrophy, C... |
ORPHA:369939 |
Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Peripheral axonal degeneration, Decreased motor nerve conduction velocity, Prolonged brainstem au... |
OMIM:601596 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Autoimmune thrombocytopenia, Splenomegaly, Monocytosis, Increased... |
OMIM:614470 |
Hydatidiform Mole, Recurrent, 3 |
|
Female infertility |
OMIM:618431 |
Hydatidiform Mole, Recurrent, 4 |
|
Female infertility |
OMIM:618432 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:145900 |
Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Dystonia, Ataxia, Postural tremor, Impaired distal proprioception, Babinski sign, Optic atrophy, ... |
ORPHA:447896 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Immunodeficiency 11A |
|
Decreased proportion of CD4+CD25+ regulatory T cells, Decreased circulating antibody level, Agamm... |
OMIM:615206 |
Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Spastic ataxia, Babinski sign, Optic atrophy, Spastic diplegia, Abnormal pyramidal sign, Gait dis... |
OMIM:616859 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Somatic sensory dysfunction, Demyelinating sensory neuropathy, Demyelinating motor neuropathy, In... |
ORPHA:99939 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spinocerebellar Ataxia Type 23 |
|
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... |
ORPHA:101108 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Steppage gait, Vestibular schwannoma, Dista... |
OMIM:613641 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Spastic tetraparesis, Decreased nerve conduction velocity, Babinski sign, Gait ataxia, Loss of am... |
OMIM:249900 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal sign, Axonal loss, ... |
OMIM:617672 |
Immunodeficiency 24 |
|
Decreased circulating IgG level, Lymphopenia, Decreased CD4:CD8 ratio, Reduced proportion of muco... |
OMIM:615897 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration/regeneration |
OMIM:607677 |
Periventricular Nodular Heterotopia 8 |
|
Delayed CNS myelination, Cerebellar vermis atrophy |
OMIM:618185 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Intellectual Developmental Disorder, Autosomal Recessive 60 |
|
Delayed CNS myelination |
OMIM:617432 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Distal se... |
OMIM:608323 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Broad-based gait, Impaired pain sensation, Decreased nerve conduction velocity, Impaired distal v... |
ORPHA:435387 |
Choreoathetosis, Familial Inverted |
|
Rigidity, Progressive choreoathetosis, Abnormal pyramidal sign, Gait disturbance |
OMIM:118750 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia Type 43 |
|
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Unste... |
ORPHA:497764 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J |
|
Decreased motor nerve conduction velocity, Difficulty walking, Distal sensory impairment |
OMIM:620111 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, CNS hypomyelination, Le... |
OMIM:607694 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Cerebral dysmyelination, Reductio... |
OMIM:312080 |
Oocyte/Zygote/Embryo Maturation Arrest 11 |
|
Female infertility |
OMIM:619643 |
Oocyte/Zygote/Embryo Maturation Arrest 7 |
|
Female infertility |
OMIM:618550 |
Oocyte/Zygote/Embryo Maturation Arrest 6 |
|
Female infertility |
OMIM:618353 |
Progesterone Resistance |
|
Female infertility |
OMIM:264080 |
Oocyte/Zygote/Embryo Maturation Arrest 18 |
|
Female infertility |
OMIM:620332 |
Oocyte/Zygote/Embryo Maturation Arrest 19 |
|
Female infertility |
OMIM:620333 |
Oocyte/Zygote/Embryo Maturation Arrest 15 |
|
Female infertility |
OMIM:616814 |
Oocyte/Zygote/Embryo Maturation Arrest 1 |
|
Female infertility |
OMIM:615774 |
Oocyte/Zygote/Embryo Maturation Arrest 3 |
|
Female infertility |
OMIM:617712 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Decreased number of peripheral myelinated nerve fibers, Axonal regeneration |
OMIM:607731 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Postural tremor, Abnormal motor nerve conduction velocity, Babinski sign, Distal sensory impairme... |
ORPHA:100998 |
Premature Ovarian Failure 2B |
|
Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
OMIM:300604 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Waddling gait, Compound muscle action potential amplitude facilitation, Decreased compound muscle... |
OMIM:616040 |
Female Infertility Due To Oocyte Meiotic Arrest |
|
Abnormal spermatogenesis, Oocyte arrest at metaphase I, Abnormal meiosis, Female infertility |
ORPHA:488191 |
Charcot-Marie-Tooth Disease Type 4G |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased distal sensory... |
ORPHA:99953 |
Folinic Acid-Responsive Seizures |
|
Broad-based gait, Ataxia, Spastic tetraparesis, Delayed myelination, Chorea, Optic atrophy, Multi... |
ORPHA:79097 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leukodystrophy, Dystonia, Oculomotor ap... |
OMIM:612438 |
Deafness, Dystonia, And Cerebral Hypomyelination |
|
Cerebellar atrophy, Cerebral hypomyelination, Optic atrophy, Cerebral atrophy |
OMIM:300475 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Peripheral axonal neuropathy, Peripheral demyelination |
ORPHA:231445 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Delayed CNS myelination, Ataxia, Impaired distal proprioception, Impaired distal vibration sensat... |
OMIM:619742 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Y |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Impaired distal t... |
OMIM:616687 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Unsteady gait, Impaired tandem gait, Axonal loss, Clusters of axo... |
ORPHA:101097 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Spinocerebellar Ataxia Type 37 |
|
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... |
ORPHA:363710 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:605285 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... |
OMIM:616688 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Spastic Paraplegia 44, Autosomal Recessive |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelination,... |
OMIM:613206 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Inability to walk, Delayed myelination, Spa... |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
|
Decreased motor nerve conduction velocity, Steppage gait, Distal sensory impairment |
OMIM:302801 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls, Gait disturbance |
OMIM:118700 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Encephalopathy, Progressive, Early-Onset, With Episodic Rhabdomyolysis |
|
Delayed CNS myelination, Cerebral atrophy |
OMIM:618331 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, CNS hypomyelination, Pro... |
ORPHA:527497 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Peripheral axonal degeneration, Decreased testicular size, Hypogonadotropic hypogonadism, Hypergo... |
OMIM:604168 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Onion bulb formation, Peripheral demyelination, Axonal regeneration |
OMIM:615185 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:618184 |
Leukodystrophy, Hypomyelinating, 15 |
|
Ataxia, Optic atrophy, Abnormal pyramidal sign, CNS hypomyelination, Athetosis, Leukodystrophy, D... |
OMIM:617951 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Steppage gait, Fasciculations, Distal sensory impairment |
OMIM:606595 |
Developmental And Epileptic Encephalopathy 79 |
|
Frontotemporal cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination |
OMIM:618559 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:604563 |
Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy, Leukodystrophy |
OMIM:616370 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity |
OMIM:615768 |
Hyperprolactinemia |
|
Menorrhagia, Oligomenorrhea, Female infertility |
OMIM:615555 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Lower limb spasticity, Peripheral axonal neuropathy, Babinski sign, Optic atrophy, Spastic parapl... |
OMIM:615035 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait |
ORPHA:401849 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Impaired vibratory sensation, Unsteady gait, Abnormal motor nerve conduction velocity |
ORPHA:139536 |
Ataxia-Pancytopenia Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Impaired vibration sensation in the l... |
OMIM:159550 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Dysmetria, Distal sens... |
OMIM:612674 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607250 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, CNS hypomyelination, Gait atax... |
OMIM:614381 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, EEG with generalized epileptiform discharges |
OMIM:616187 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Retinal Telangiectasia And Hypogammaglobulinemia |
|
Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Postural tremor, Inabilit... |
ORPHA:99950 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers, Hypergonadotropic hypogonadism, Primary a... |
OMIM:607080 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:600882 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Peripheral axonal neuropathy, CNS hypomyelination |
OMIM:619688 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Optic disc pallor, Lower limb spasticity, Ataxia, Babinski sign, Spastic diplegia, CNS hypomyelin... |
OMIM:615281 |
Spastic Paraplegia 17, Autosomal Dominant |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Postural tremor, Impaired dista... |
OMIM:270685 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Optic atrophy, Brady... |
ORPHA:98755 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking |
OMIM:615575 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Difficulty... |
OMIM:613908 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Corticobasal Syndrome |
|
Speech apraxia, Dystonia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Akinesia, Or... |
ORPHA:454887 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:302800 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Choreoathetosis, Leukodystrophy, Dystonia |
OMIM:614932 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking |
OMIM:615048 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
|
Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2 |
|
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... |
OMIM:605726 |
Monocyte Chemotactic Disorder |
|
Cutaneous anergy |
OMIM:252250 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... |
OMIM:603516 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Delayed myelination, Temporal cortical atrophy, Cerebral hypomyelination, Fro... |
ORPHA:621 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Decreased nerve conduction velocity, Myelin outfoldings, Onion bulb formation, Brain atrophy |
OMIM:615284 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Parkinsonis... |
ORPHA:300605 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Torticollis, Head tremor... |
OMIM:613724 |
Developmental And Epileptic Encephalopathy 76 |
|
Cerebellar atrophy, Delayed CNS myelination, Multifocal epileptiform discharges, Cerebral atrophy |
OMIM:618468 |
4H Leukodystrophy |
|
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... |
ORPHA:289494 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12 |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Neuromyelitis Optica Spectrum Disorder |
|
Neuronal loss in central nervous system, Peripheral demyelination |
ORPHA:71211 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Decreased number of large peripheral myelinated nerve fibers... |
ORPHA:90103 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Oocyte/Zygote/Embryo Maturation Arrest 17 |
|
Female infertility, Amenorrhea |
OMIM:620319 |
Oocyte/Zygote/Embryo Maturation Arrest 20 |
|
Female infertility, Amenorrhea |
OMIM:620383 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Paraparesis, Steppage gait, Distal sensory impairment |
OMIM:302802 |
Developmental And Epileptic Encephalopathy 78 |
|
Cerebral palsy, Inability to walk, Chorea, CNS hypomyelination, Spasticity |
OMIM:618557 |
Charcot-Marie-Tooth Disease Type 1F |
|
Absent brainstem auditory responses, Demyelinating motor neuropathy, Impaired proprioception, Han... |
ORPHA:101085 |
Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Peripheral dysmyelination |
ORPHA:101082 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Increased circulating IgM level, Monocytosis, Neutropenia, Monocytopen... |
ORPHA:2688 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypsarrhythmia |
OMIM:619561 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
EEG with polyspike wave complexes, Jerk-locked premyoclonus spikes, Tremor, Myoclonus, Enhancemen... |
OMIM:615127 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... |
ORPHA:314632 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Abnormal erythrocyte morphology, Chorea, Choreoathetosis, Hemiparesis, Hyperto... |
ORPHA:71277 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cerebral atrophy, B lymp... |
OMIM:619851 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Progressive truncal ataxia, Spastic ataxia, Ataxia, De... |
OMIM:270550 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Refractory anemia, Leukopenia, Monocytosis, Bone marrow hypocellularity |
OMIM:616871 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
Kaya-Barakat-Masson Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination |
OMIM:619125 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... |
OMIM:612164 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Abetalipoproteinemia |
|
CNS demyelination, Peripheral demyelination, Acanthocytosis |
OMIM:200100 |
Giant Axonal Neuropathy |
|
Facial palsy, Unsteady gait, Babinski sign, CNS hypomyelination, Distal sensory impairment, Falls... |
ORPHA:643 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Babinski sign, Spasti... |
ORPHA:139578 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
ORPHA:98856 |
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome |
|
Impaired vibratory sensation, Clonus, Decreased nerve conduction velocity, Poor coordination, Abn... |
OMIM:238970 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... |
OMIM:162400 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Segmental peripheral demyelination/remyelination, Decreased ... |
OMIM:601455 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Onion bulb formation, Peripheral de... |
OMIM:608340 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Delayed CNS myelination, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem g... |
OMIM:300423 |
Huppke-Brendel Syndrome |
|
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination |
OMIM:614482 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Developmental And Epileptic Encephalopathy 93 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, CNS hypomyelination |
OMIM:618012 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Diaphragmatic paralysis |
ORPHA:868 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1188 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Optic atrophy, CNS demyelination, Gait disturbance, Gliosis, Cerebral hypomyelinat... |
OMIM:603896 |
Slc35A1-Cdg |
|
Pneumonia, Giant platelets, Neutropenia, Abnormal platelet granules, Thrombocytopenia, Pulmonary ... |
ORPHA:238459 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, Inability to walk, Babinski sign, CNS hypomyelination, Lower limb hypertonia, ... |
OMIM:619328 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Rigidity, Myoclonus, Giant somatosensory evoked potentials, Intention tremor |
OMIM:618876 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Adult Krabbe Disease |
|
Broad-based gait, Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsine... |
ORPHA:206448 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait atax... |
OMIM:618387 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Asherman Syndrome |
|
Metrorrhagia, Dysmenorrhea, Abnormality of the menstrual cycle, Decreased fertility in females, S... |
ORPHA:137686 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Distal sensory impairment |
OMIM:613287 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Cerebral atrophy, EEG abnormality, Axonal loss, Abnormal upper motor neuron morp... |
OMIM:221770 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axona... |
OMIM:617087 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Babinski sign, Impotence, Pseudobulbar paralysis, Leu... |
OMIM:169500 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Macular Degeneration, Age-Related, 3 |
|
Decreased nerve conduction velocity, Distal sensory impairment |
OMIM:608895 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
|
Decreased nerve conduction velocity, Inability to walk, Optic atrophy, EEG abnormality, Dystonia,... |
ORPHA:457205 |
Developmental And Epileptic Encephalopathy 58 |
|
Inability to walk, Delayed myelination, Optic atrophy, Spastic diplegia, Hypsarrhythmia |
OMIM:617830 |
Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
Reticular Dysgenesis |
|
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... |
OMIM:267500 |
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
EEG abnormality, Delayed CNS myelination, Thrombocytopenia, CNS hypomyelination |
OMIM:616577 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
Porphyria, Acute Hepatic |
|
Hemolytic anemia, Respiratory paralysis, Paralysis |
OMIM:612740 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Optic atrophy, Focal dystonia, C... |
ORPHA:216873 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia, Abnormal myelination |
ORPHA:401835 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Developmental And Epileptic Encephalopathy 75 |
|
Optic disc pallor, Optic atrophy, CNS hypomyelination, Hypsarrhythmia, Frontal cortical atrophy, ... |
OMIM:618437 |
Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebral atrophy, Cerebellar vermis atrophy, CNS hypomyelination |
OMIM:615760 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypert... |
OMIM:618356 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, EEG with spike-wave complexes |
OMIM:614018 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Difficulty walking, Paralysis |
OMIM:613710 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Lower limb spasticity, Ataxia, Dysmetria, Pseudobulbar paralysis, Lower limb hypertonia, Difficul... |
ORPHA:438114 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Tetrapl... |
OMIM:604484 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... |
ORPHA:401830 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus, Interictal epileptiform activity |
OMIM:615400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Spasticity, Frequent falls, Abolished vibration sense |
OMIM:620068 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor |
OMIM:614369 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave co... |
OMIM:607876 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus |
ORPHA:98763 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Limb ataxia, Dysmetria, Gait ataxia, Gliosis, Spas... |
OMIM:213200 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity |
OMIM:615924 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:617916 |
Combined Saposin Deficiency |
|
Splenomegaly, CNS demyelination, Optic atrophy, Neuronal loss in central nervous system |
OMIM:611721 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Delayed CNS myelination, Ataxia, Head titubation, Babinski sign, Optic atrophy, Dysmetria, Leukod... |
OMIM:618688 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... |
OMIM:218000 |
Spinocerebellar Ataxia Type 25 |
|
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... |
ORPHA:101111 |
Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Ataxia, Abnormal pyramidal sign, Leukodystrophy, Dystonia |
OMIM:619196 |
Autoimmune Disease |
|
Autoimmune antibody positivity, Autoimmunity |
OMIM:109100 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Rigidity, Inability to walk, CNS hypomyelination, Choreoathetosis, Hypertonia |
OMIM:620023 |
Retinal Dystrophy With Leukodystrophy |
|
Waddling gait, Truncal titubation, Dysmetria, CNS hypomyelination, Falls |
OMIM:618863 |
Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination, T lymphocytopenia, B lymphocytopenia, Brain atrophy, Abnormal natural killer... |
OMIM:615966 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... |
OMIM:617145 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
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Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Pelizaeus-Merzbacher Disease, Connatal Form |
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Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Titubation, Gliosis, Difficulty ... |
ORPHA:280210 |
Spinocerebellar Ataxia 1 |
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Decreased motor nerve conduction velocity, Optic disc pallor, Impaired vibratory sensation, Impai... |
OMIM:164400 |
Pemphigus Vulgaris, Familial |
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Autoimmune antibody positivity, Autoimmunity |
OMIM:169610 |
Spinocerebellar Ataxia Type 32 |
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Male infertility, Azoospermia, Testicular atrophy, Progressive cerebellar ataxia |
ORPHA:276183 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Spermatogenic Failure, X-Linked, 6 |
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Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Myoclonic-Atonic Epilepsy |
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Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Paroxysmal Exertion-Induced Dyskinesia |
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Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Spastic Paraplegia 6, Autosomal Dominant |
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Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
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Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Giant platelet syndrome with thrombocytopenia |
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Giant platelets, Thrombocytopenia |
OMIM:137560 |
Neurodegeneration With Brain Iron Accumulation 2A |
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Ataxia, Decreased nerve conduction velocity, Unsteady gait, Optic atrophy, Spastic tetraplegia, A... |
OMIM:256600 |
Myh9-Related Disease |
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Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Neurodevelopmental Disorder With Language Delay And Seizures |
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Diffuse cerebral atrophy, CNS hypomyelination |
OMIM:619908 |
Lichtenstein-Knorr Syndrome |
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Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
X-Linked Dystonia-Parkinsonism |
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Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Metachromatic Leukodystrophy |
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Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
Leukodystrophy, Hypomyelinating, 16 |
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Optic disc pallor, Delayed CNS myelination, Broad-based gait, Abnormal pyramidal sign, Dysmetria,... |
OMIM:617964 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
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Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, CNS hypomyelinat... |
OMIM:618527 |
Lethal Congenital Contracture Syndrome 8 |
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Facial diplegia, Peripheral hypomyelination, Vocal cord paralysis |
OMIM:616287 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
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Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
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Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Developmental And Epileptic Encephalopathy 17 |
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Delayed CNS myelination, EEG with burst suppression, Chorea, Inability to walk, Hypsarrhythmia, A... |
OMIM:615473 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:615490 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
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EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
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Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Metachromatic Leukodystrophy, Late Infantile Form |
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Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
Autosomal Dominant Striatal Neurodegeneration |
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Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
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Male infertility, Bilateral cryptorchidism |
OMIM:261550 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
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Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Abnormal auditory evoked potentia... |
OMIM:619260 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
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Babinski sign, Vestibular areflexia, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebella... |
ORPHA:504476 |
Spinocerebellar Ataxia Type 27 |
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Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Axonal loss, Dystonia, Paralysis |
OMIM:300857 |
Thrombocytopenia 4 |
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Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Spinocerebellar Ataxia 15 |
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Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Parkinsonism-Dystonia 2, Infantile-Onset |
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Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Intellectual Developmental Disorder, X-Linked 104 |
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Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spasticity |
OMIM:300983 |
Wild Type Abeta2M Amyloidosis |
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Decreased nerve conduction velocity, Dysesthesia, Tetraplegia, Paresthesia, Tetraparesis, Decreas... |
ORPHA:85446 |
Spastic Ataxia 5, Autosomal Recessive |
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Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... |
OMIM:614487 |
Developmental And Epileptic Encephalopathy 32 |
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Tremor, Ataxia, Myoclonus, EEG with spike-wave complexes (2.5-3.5 Hz) |
OMIM:616366 |
Ceroid Lipofuscinosis, Neuronal, 5 |
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Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Abnormal nervous system electroph... |
OMIM:256731 |
Bernard-Soulier Syndrome |
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Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Trigeminal Neuralgia |
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CNS demyelination, Cranial nerve compression, Peripheral demyelination |
ORPHA:221091 |
Leukodystrophy, Childhood-Onset, Remitting |
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Leukodystrophy |
OMIM:619864 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
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Tremor, EEG abnormality, Ataxia, Gait ataxia |
OMIM:617831 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy |
OMIM:183350 |
Autosomal Recessive Spastic Paraplegia Type 46 |
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Lower limb spasticity, Peripheral axonal neuropathy, Broad-based gait, Ataxia, Babinski sign, Abn... |
ORPHA:320391 |
Rapid-Onset Dystonia-Parkinsonism |
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Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dystonia, Craniofacial... |
ORPHA:71517 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Combined Oxidative Phosphorylation Defect Type 13 |
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Decreased nerve conduction velocity, Delayed myelination, Choreoathetosis, Lower limb hypertonia,... |
ORPHA:319514 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
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Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Difficulty... |
ORPHA:477673 |
Atypical Progressive Supranuclear Palsy Syndrome |
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Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Alg2-Cdg |
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Cerebral hypomyelination, Hypsarrhythmia |
ORPHA:79326 |
Progressive Myoclonic Epilepsy With Dystonia |
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Delayed CNS myelination, EEG with irregular generalized spike and wave complexes, Optic atrophy, ... |
ORPHA:352596 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
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Delayed CNS myelination, Broad-based gait, Inability to walk, CNS hypomyelination, Myoclonus |
OMIM:616158 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
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Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
L-2-Hydroxyglutaric Aciduria |
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Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Optic atrophy, Abnormal p... |
OMIM:236792 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
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Impaired vibratory sensation, Lower limb spasticity, Optic atrophy, Sensory ataxia, Gait ataxia, ... |
OMIM:620221 |
Dystonia 2, Torsion, Autosomal Recessive |
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Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
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Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsiness, Limb ataxia, Progressive... |
ORPHA:284324 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
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Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
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Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
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Ataxia, Abnormal pyramidal sign, Dysmetria, Paresthesia, Abnormality of peripheral nerve conducti... |
ORPHA:48431 |
Leukodystrophy, Hypomyelinating, 12 |
|
Cerebellar atrophy, Delayed myelination, Optic atrophy, Abnormal autonomic nervous system physiol... |
OMIM:616683 |
Dystonia 7, Torsion |
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Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Spinocerebellar Ataxia 32 |
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Azoospermia, Testicular atrophy, Infertility, Ataxia |
OMIM:613909 |
Metachromatic Leukodystrophy, Juvenile Form |
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Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Progressive gait a... |
ORPHA:309263 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
Dystonia 1, Torsion, Autosomal Dominant |
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Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Neurodegeneration, Neuronal loss in centr... |
OMIM:616239 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Autosomal Dominant Spastic Paraplegia Type 6 |
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Lower limb spasticity, Postural tremor, Babinski sign, Spastic paraplegia, Gait disturbance |
ORPHA:100988 |
Acute Peripheral Arterial Occlusion |
|
Leukocytosis, Paralysis |
ORPHA:90064 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
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Ataxia, Hypergonadotropic hypogonadism, Involuntary movements, Decreased number of large peripher... |
OMIM:271245 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
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Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tremor |
OMIM:620158 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Impaired tandem gait, Dysmetria, Gait ataxia, ... |
OMIM:117360 |
Developmental And Epileptic Encephalopathy 56 |
|
EEG with polyspike wave complexes, Broad-based gait, Ataxia, Poor coordination, EEG abnormality, ... |
OMIM:617665 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Babinski sign, CNS hypomyelination, Facial diplegia, D... |
OMIM:618186 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Inability to walk, Chorea, Babinski sign, Optic atroph... |
ORPHA:95 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Decreased distal sensory nerve action potential, Gait disturbance, Impaired distal tactile sensation |
OMIM:618400 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination |
OMIM:619286 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:615362 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb... |
OMIM:229300 |
X-Linked Charcot-Marie-Tooth Disease Type 2 |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Clasp-knife sign, Optic neuropathy,... |
ORPHA:101076 |
Developmental Delay, Impaired Growth, Dysmorphic Facies, And Axonal Neuropathy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Delayed CNS myelination, Cerebral atrophy |
OMIM:619090 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walking, Dystonia, Delaye... |
ORPHA:330050 |
Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Waddling gait, Dystonia, Ataxia, Tremor, Inability to walk, Chorea, CNS hypomyeli... |
OMIM:615356 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Abnormal lower motor neuron morphology, Amyotrophic lateral scler... |
OMIM:602433 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia, Recurrent upper respira... |
OMIM:617585 |
Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral atrophy, Cerebral cortical atrophy, Leukodystrophy, CNS hypomyelination |
OMIM:616420 |
Indifference To Pain, Congenital, Autosomal Recessive |
|
Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Painless fractures d... |
OMIM:243000 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Optic atrophy, Cerebral atrophy, EEG abnormality, Neurodegeneration |
OMIM:610951 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spast... |
OMIM:617810 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
|
Abnormality of T cell physiology |
OMIM:308220 |
Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, EEG with burst suppression |
OMIM:618328 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff |
|
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... |
OMIM:619519 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... |
ORPHA:157941 |
Adenylosuccinase Deficiency |
|
Inability to walk, Gait ataxia, Opisthotonus, CNS hypomyelination, Myoclonus, Hemiplegia, Cerebra... |
OMIM:103050 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Broad-based gait, Ataxia, Impaired vibration sensation in the lower limbs, Optic atrophy, Impaire... |
OMIM:609033 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormal peripheral myelination, Testicular dysgenesis, Primary amenorrhea, Steppag... |
ORPHA:168563 |
Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Ataxia, Athetosis, Abnormal CNS myelination, Dystonia, Spasticity |
OMIM:612951 |
Lissencephaly 8 |
|
Cerebral hypomyelination, Optic atrophy |
OMIM:617255 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Ataxia, Inability to walk, Optic atrophy, Dysmetria, CNS hypomyelination, Leukodystrophy, Spasticity |
OMIM:619576 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Lower limb spasticity, Ataxia, Babinski s... |
OMIM:604360 |
Developmental And Epileptic Encephalopathy 34 |
|
Delayed CNS myelination, Cerebral atrophy |
OMIM:616645 |
Developmental And Epileptic Encephalopathy 29 |
|
Chorea, CNS hypomyelination, Blepharospasm, Limb dystonia, Spasticity |
OMIM:616339 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Peripheral axonal degeneration, Dystonia, Ataxia, Decreased number of large peripheral myelinated... |
OMIM:208920 |
Griscelli Syndrome, Type 2 |
|
Reduced delayed hypersensitivity, Spasticity, Hemophagocytosis, Hepatosplenomegaly |
OMIM:607624 |
Pelizaeus-Merzbacher Disease In Female Carriers |
|
Lower limb spasticity, Inability to walk, Babinski sign, CNS hypomyelination, Gait disturbance, D... |
ORPHA:280229 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling ga... |
OMIM:221820 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb spasticity, Babinski sign, Spastic paraplegia, Hand tremor, Ankle clonus, Upper limb s... |
OMIM:614409 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Limb dystonia |
OMIM:620270 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Slurred speech, EEG abnormality, Gait distur... |
ORPHA:812 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis |
OMIM:614198 |
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Lower limb spasticity, Clonus, Spastic paraplegia, Bab... |
OMIM:256840 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Interictal EEG abnormality, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fi... |
ORPHA:79263 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Microcephaly-Capillary Malformation Syndrome |
|
Delayed myelination, Optic atrophy, Cerebral atrophy, CNS hypomyelination |
OMIM:614261 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Tremor, Leukodystrophy, Dystonia, Loss of ambulation |
OMIM:615010 |
Premature Ovarian Failure 13 |
|
Oligomenorrhea, Female infertility, Amenorrhea |
OMIM:617442 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Dystonia |
OMIM:304700 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Impaired pain sensation, Dysesthesia, Impaired vibrati... |
OMIM:613640 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Dysmyelinating leukodystrophy, Unsteady g... |
ORPHA:137898 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, CNS hypomyelination |
ORPHA:300536 |
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy |
|
Delayed CNS myelination, Hypsarrhythmia, Diffuse cerebral atrophy |
OMIM:613668 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
Glutamine Deficiency, Congenital |
|
Brain atrophy, CNS hypomyelination |
OMIM:610015 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... |
ORPHA:240103 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Unsteady gait, Babinsk... |
OMIM:609270 |
Lethal Ataxia With Deafness And Optic Atrophy |
|
Decreased motor nerve conduction velocity, Ataxia, Severe demyelination of the white matter, Opti... |
ORPHA:1187 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination |
OMIM:616733 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, EEG abnormality, Dystonia |
OMIM:612126 |
Leukodystrophy, Hypomyelinating, 17 |
|
Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Hypsarrhythmia |
OMIM:618006 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Caspase 8 Deficiency |
|
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... |
OMIM:607271 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Delayed CNS myelination, Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head tituba... |
OMIM:618877 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
|
Decreased nerve conduction velocity, Gait disturbance |
ORPHA:2928 |
Tangier Disease |
|
Splenomegaly, Peripheral axonal neuropathy, Facial diplegia, Peripheral demyelination |
OMIM:205400 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, CN... |
OMIM:268800 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Delayed myelination, Optic atrophy, Athetosis, Gait disturbance, Myo... |
OMIM:618241 |
Premature Ovarian Failure 20 |
|
Secondary amenorrhea, Female infertility |
OMIM:619938 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Cerebral dysmyelination, Short-segmen... |
OMIM:609136 |
Cednik Syndrome |
|
Optic atrophy, Ataxia, Abnormality of peripheral nerve conduction |
ORPHA:66631 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Dysmyelinating leukodystrophy, Babinski sign... |
OMIM:612319 |
Sandhoff Disease, Infantile Form |
|
CNS hypomyelination, Cerebral cortical atrophy, Hepatosplenomegaly |
ORPHA:309155 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Spastic ga... |
OMIM:616795 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... |
ORPHA:320406 |
Optic Atrophy 11 |
|
Delayed CNS myelination, Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, EEG with fo... |
OMIM:617302 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Delayed CNS myelination, Lower limb spasticity, A... |
OMIM:616881 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Impaired vibration sensation in the lower limbs, Impaired propriocept... |
ORPHA:88628 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Distal sensory impairment, Gait ataxia, Paresthesia... |
OMIM:616719 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor |
OMIM:266130 |
Premature Ovarian Failure 6 |
|
Streak ovary, Premature ovarian insufficiency, Female infertility, Secondary amenorrhea, Primary ... |
OMIM:612310 |
Tn Polyagglutination Syndrome |
|
Autoimmunity |
OMIM:300622 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased number of peripheral myelinated nerve fibers, Decreased sensory nerve conduction veloci... |
OMIM:201300 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Tip-toe gait, Gait dis... |
ORPHA:216866 |
Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
Developmental And Epileptic Encephalopathy 35 |
|
Delayed CNS myelination, Brain atrophy, Cerebral atrophy |
OMIM:616647 |
Behr Syndrome |
|
Ataxia, Tremor, Unsteady gait, Babinski sign, Optic atrophy, Dysmetria, Gait disturbance, Progres... |
OMIM:210000 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Lower limb spasticity, Ataxia, Inability to walk, Optic atrophy, CNS hypomyelination, Upper limb ... |
OMIM:617193 |
Combined Oxidative Phosphorylation Defect Type 39 |
|
Optic disc pallor, Lower limb spasticity, Involuntary movements, Decreased nerve conduction veloc... |
ORPHA:565624 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Fasciculations |
ORPHA:641 |
Gaba-Transaminase Deficiency |
|
EEG with burst suppression, Leukodystrophy |
OMIM:613163 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Infantile Neuroaxonal Dystrophy |
|
Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady gait, Abnormal pyramidal sign, Optic a... |
ORPHA:35069 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... |
ORPHA:401866 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi... |
ORPHA:329478 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
CNS demyelination, Caudate atrophy, Cerebral cortical atrophy, EEG abnormality |
OMIM:618193 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis |
OMIM:105500 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Distal sensory... |
ORPHA:600 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Waddling gait |
OMIM:618138 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Ataxia, Severe demyelination of the white matter, Inability to walk, CNS hypomyelination, Difficu... |
ORPHA:481152 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia |
ORPHA:1933 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ... |
ORPHA:171629 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Abnormality of peripheral somatosensory evoked potentials, Somatic ... |
ORPHA:466768 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Optic atrophy, Dysmetria, CNS hypomyelination, Leukodystrophy, Dystonia,... |
OMIM:619708 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, EEG abnormality, Hypertonia |
OMIM:617106 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Tremor, Chorea, Impaired distal vibration sensation, A... |
OMIM:606002 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Inability to walk, Gait ataxia, Opisthotonus, Choreoathetosis, C... |
OMIM:619580 |
Charcot-Marie-Tooth Disease Type 1E |
|
Impaired temperature sensation, Decreased nerve conduction velocity, Inability to walk, Impaired ... |
ORPHA:90658 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Immunodeficiency 97 With Autoinflammation |
|
Lymphopenia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, E... |
OMIM:619802 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... |
OMIM:615905 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... |
OMIM:619725 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity |
ORPHA:33445 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Babinski sign, Sensory ataxia, Gait ataxia, Decreased ... |
OMIM:616192 |
Familial Hyperprolactinemia |
|
Female hypogonadism, Menorrhagia, Infertility, Oligomenorrhea, Amenorrhea |
ORPHA:397685 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Loss of ambulation, Decreased compound muscle action potential amplitude, Facial palsy, Waddling ... |
OMIM:603511 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Inability to w... |
OMIM:619653 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... |
ORPHA:93952 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Digital Extensor Muscle Aplasia-Polyneuropathy |
|
Abnormal nerve conduction velocity, Impaired pain sensation |
ORPHA:2926 |
Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
Cerebellar atrophy, Cerebral atrophy, CNS hypomyelination, Hippocampal atrophy, Interictal epilep... |
OMIM:618922 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Lymphopenia, Pancytopenia, Decreased lympho... |
OMIM:618986 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Difficulty walking, Leukodystrophy, Spasticity |
OMIM:618242 |
Autosomal Recessive Spastic Paraplegia Type 25 |
|
Paraparesis, Spastic paraplegia, Abnormality of peripheral nerve conduction |
ORPHA:101005 |
Acromicric Dysplasia |
|
Decreased nerve conduction velocity |
ORPHA:969 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Unsteady gait, Fasc... |
ORPHA:464282 |
Multiple Sulfatase Deficiency |
|
Cerebellar atrophy, Splenomegaly, Cerebral atrophy, CNS demyelination, Peripheral demyelination |
OMIM:272200 |
Frontal Encephalocele |
|
Encephalocele, Hydrocephalus, Spina bifida, Leukodystrophy |
ORPHA:1931 |
Wiskott-Aldrich Syndrome 2 |
|
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... |
OMIM:614493 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Developmental And Epileptic Encephalopathy 72 |
|
Delayed CNS myelination, Cerebral atrophy, Hypsarrhythmia |
OMIM:618374 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babinski sign, Scissor g... |
OMIM:617013 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Hypochromic microcytic anemia, CNS hypomyelination |
OMIM:619423 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Immunodeficiency 32B |
|
Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burst, Abnormal ci... |
OMIM:226990 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Tongue fasciculations, Difficulty walking, Myoclonus, Frequent falls |
OMIM:159950 |
Congenital Myopathy 10A, Severe Variant |
|
Tongue fasciculations, Diaphragmatic paralysis, Facial palsy, Abnormal motor nerve conduction vel... |
OMIM:614399 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Delayed myelination, Babinski sign, Choreoathetosis, EEG abnormality, Hyp... |
OMIM:618451 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Postural tremor, Babinski sign, Vocal cord paralysis, Optic atrophy, Hand tremor, Inability to wa... |
ORPHA:99947 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Delayed CNS myelination, Involuntary movements, Chorea, Multifocal epileptiform discharges, Athet... |
OMIM:617493 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Thrombocytopenia, EEG with frontal sharp slow waves, Hypsarrhythmia, EEG abnormality, Brain atrop... |
ORPHA:457351 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Delayed myelination, Cerebral cortical atrophy, CNS hypomyelination |
OMIM:614922 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Neuronal loss in central nervous system, Cerebral cortical atrophy |
OMIM:614959 |
Yuan-Harel-Lupski Syndrome |
|
Broad-based gait, Decreased nerve conduction velocity, Unsteady gait, Distal sensory impairment, ... |
OMIM:616652 |
Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Ataxia, Clonus, Inability to walk, Babinski sign, Spastic paraplegia, Sp... |
OMIM:300523 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... |
OMIM:614575 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Decreased number of peripheral myelinated nerve fibers, Cerebral atrophy |
OMIM:614116 |
Leukodystrophy, Hypomyelinating, 9 |
|
Lower limb spasticity, Ataxia, Babinski sign, Dysmetria, Pseudobulbar paralysis, Abnormality of e... |
OMIM:616140 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:99949 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Delayed CNS myelination, Chorea, Hypsarrhythmia, Choreoathetosis, Athetosis |
OMIM:309541 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor |
ORPHA:397744 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis |
OMIM:616286 |
Autosomal Recessive Spastic Paraplegia Type 55 |
|
Lower limb spasticity, Optic neuropathy, Babinski sign, Optic atrophy, Distal sensory impairment,... |
ORPHA:320375 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Peho Syndrome |
|
Cerebellar atrophy, Optic atrophy, Hypsarrhythmia, Peripheral dysmyelination, Neuronal loss in ce... |
OMIM:260565 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Immunodeficiency 91 And Hyperinflammation |
|
Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Dysmetria, Distal sensory impai... |
OMIM:616505 |
Developmental And Epileptic Encephalopathy 3 |
|
EEG with burst suppression, Delayed myelination, Brain atrophy, Cerebral atrophy |
OMIM:609304 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Giant Axonal Neuropathy 1, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... |
OMIM:256850 |
Pyridoxine-Dependent Epilepsy |
|
Delayed CNS myelination, EEG with burst suppression, Multifocal epileptiform discharges, EEG with... |
ORPHA:3006 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Optic atrophy, Difficulty walking, Dystoni... |
ORPHA:401768 |
Spinocerebellar Ataxia 25 |
|
Decreased number of peripheral myelinated nerve fibers, Oculomotor apraxia, Babinski sign, Ataxia |
OMIM:608703 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Focal EEG discharges with ... |
ORPHA:3077 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Obstructive azoospermia |
OMIM:301060 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, CNS demyelination, Optic atrophy |
OMIM:618237 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Cerebrotendinous Xanthomatosis |
|
Abnormal pyramidal sign, Abnormal motor evoked potentials, Gliosis, Ataxia, Parkinsonism, Gait di... |
ORPHA:909 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Babinski sign, Optic atrophy, Hypertonia, Leukodystrophy, Dystonia, CNS demyelination |
OMIM:264470 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome |
|
Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neuropathy, Progressive... |
ORPHA:2821 |
Spinocerebellar Ataxia 21 |
|
Delayed CNS myelination, Ataxia, Parkinsonism, Akinesia, Postural tremor, Limb ataxia, Gait ataxi... |
OMIM:607454 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Impaired temperature sensation, Inability to walk, Distal sensory impairment,... |
ORPHA:36386 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Decreased nerve conduction velocity, Diaphragmatic paralysis, Degeneration of anterior horn cells |
OMIM:604320 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Dy... |
OMIM:300623 |
Xeroderma Pigmentosum, Complementation Group B |
|
Decreased nerve conduction velocity, Abnormal CNS myelination, Optic atrophy, Ataxia |
OMIM:610651 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... |
ORPHA:282166 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia,... |
OMIM:603585 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
Leukodystrophy, Hypomyelinating, 3 |
|
Corpus callosum atrophy, Sudanophilic leukodystrophy, EEG abnormality, Leukodystrophy, Global bra... |
OMIM:260600 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... |
OMIM:261640 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Axial dys... |
OMIM:619026 |
Aicardi-Goutieres Syndrome 4 |
|
Cerebellar atrophy, Pancytopenia, Splenomegaly, Cerebral atrophy, Hepatosplenomegaly, Leukodystro... |
OMIM:610333 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Difficulty walking, Oculomotor ap... |
ORPHA:529665 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Female infertility, Cryptorchidism, Ab... |
ORPHA:261529 |
Aminoacylase 1 Deficiency |
|
Cerebellar atrophy, Delayed CNS myelination, Cerebral cortical atrophy, Cerebral atrophy |
OMIM:609924 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Ataxia, Increased mean platelet volume |
OMIM:616737 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsarrhythmia, EEG abnorm... |
ORPHA:485421 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubation, Inabil... |
OMIM:607483 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity |
ORPHA:1170 |
Immunodeficiency 81 |
|
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... |
OMIM:619374 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Abnormal pyramidal sign, Spastic tetrap... |
OMIM:615419 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Inability to walk, Hypertonia |
OMIM:619556 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... |
ORPHA:206436 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dysmetria, Progressive ... |
OMIM:183086 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity |
ORPHA:542310 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst... |
OMIM:300894 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Loss of ambulation, Premature ovarian insufficiency, Female infertility |
OMIM:619518 |
Autoimmune Lymphoproliferative Syndrome |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:601859 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Splenomegaly, Decrease... |
OMIM:300853 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Spastic paraparesis |
ORPHA:329284 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Reactive hypoglycemia, Tremor, Hyperinsulinemia, Fasting hypoglycemia, Hyperinsulinemic hypoglyce... |
ORPHA:276608 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Neutropenia, Monocytopenia, Myeloid leukemia, Lymphopenia, Re... |
OMIM:614172 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ataxia, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Developmental And Epileptic Encephalopathy 1 |
|
Delayed CNS myelination, Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sig... |
OMIM:308350 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
EEG with polyspike wave complexes, Aganglionic megacolon, Ataxia, Gait disturbance, Myoclonus, Oc... |
ORPHA:247262 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... |
ORPHA:75567 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Delayed CNS myelination, Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrop... |
OMIM:614498 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Delayed CNS myelination, CNS hypomyelination, Cerebral hypomyelination, EEG w... |
OMIM:618367 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysesthesia, Babinski sign, Abno... |
ORPHA:79138 |
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
Immunodeficiency, Common Variable, 1 |
|
Impaired T cell function, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, Dec... |
OMIM:607594 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spasticity, Dystonia, Cataplexy, ... |
ORPHA:496641 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Decreased proportion of CD8-positive T cells, Increased circulating IgE level, Increased circulat... |
OMIM:617241 |
Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Spasticity, EEG abnormality |
OMIM:618718 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Microphthalmia-Brain Atrophy Syndrome |
|
Diffuse cerebral atrophy, Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, ... |
ORPHA:77299 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Delayed CNS myelination, Incoordination, Ataxia, Clonus, Optic atrophy, Tetraplegia, Choreoatheto... |
OMIM:616034 |
Leukodystrophy, Hypomyelinating, 25 |
|
Delayed CNS myelination, Dystonia, Gait ataxia |
OMIM:620243 |
Hypogonadism-Cataract Syndrome |
|
Male hypogonadism, Hypogonadism, Infertility |
OMIM:240950 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Canavan Disease |
|
Optic atrophy, Multifocal epileptiform discharges, Hypsarrhythmia, Brain atrophy, CNS demyelination |
OMIM:271900 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Ataxia, Ina... |
ORPHA:254930 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Delayed myelination, CNS hypomyelination |
ORPHA:88618 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Impaired distal vibration sensation, Spastic paraplegia, Tetraplegia, Pseu... |
OMIM:616586 |
C1Q Deficiency 1 |
|
Autoimmunity, Systemic lupus erythematosus |
OMIM:613652 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, EEG with spike-wave c... |
ORPHA:36387 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Leukodystrophy, Progressive ... |
OMIM:612233 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Delayed myelination, Cerebellar gliosis, Abnormal pyramidal sign, CNS hypomyelina... |
ORPHA:3008 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Ataxia, Falls, Leukodystrophy, Dystonia, Spasticity |
OMIM:619224 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination, Spasticity, Myoclonus |
OMIM:612949 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Prolactin Deficiency, Isolated |
|
Irregular menstruation, Infertility |
OMIM:264110 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia |
ORPHA:683 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dystonia, Limb hypertonia |
ORPHA:70594 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
Multiple Sclerosis, Susceptibility To |
|
CNS demyelination, Spasticity, Incoordination, Paresthesia |
OMIM:126200 |
Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Abnormal pyramidal sign |
ORPHA:93476 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Type I diabetes mellitus, Anemia |
ORPHA:1192 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... |
ORPHA:99956 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Delayed CNS myelination, Splenomegaly, Leukopenia, Neurodegeneration, Lymphopenia |
OMIM:620210 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypogonadism, Myoclonus, Abnormal cranial nerve ... |
ORPHA:97229 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Ataxia-Telangiectasia |
|
Recurrent respiratory infections, Diabetes mellitus, Ataxia, Tremor, Gait disturbance, Type II di... |
ORPHA:100 |
Peroxisome Biogenesis Disorder 6B |
|
Impaired vibratory sensation, Ataxia, Impaired distal vibration sensation, Unsteady gait, Limb at... |
OMIM:614871 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Leigh Syndrome |
|
Ataxia, Optic atrophy, Gliosis, Dystonia, CNS demyelination, Spasticity |
OMIM:256000 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
East Syndrome |
|
Peripheral axonal neuropathy, Ataxia, Inability to walk, Peripheral hypomyelination, Difficulty w... |
ORPHA:199343 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased number of large peripheral myelinated nerve ... |
ORPHA:298 |
Developmental And Epileptic Encephalopathy 103 |
|
EEG with polyspike wave complexes, Delayed CNS myelination, Ataxia, EEG with burst suppression, S... |
OMIM:619913 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Peroxisome Biogenesis Disorder 4B |
|
Decreased nerve conduction velocity, Gait disturbance, Optic atrophy, Ataxia |
OMIM:614863 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Dystonia, Weakness due to upper motor neuron dysfuncti... |
ORPHA:79139 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Myoclonus |
OMIM:619092 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Decreased compound muscle action potential amplitude |
OMIM:618323 |
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Delayed CNS myelination |
OMIM:618832 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babin... |
OMIM:614298 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Waardenburg Syndrome, Type 4A |
|
Ataxia, Aganglionic megacolon, Leukodystrophy, Spastic paraparesis |
OMIM:277580 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
EEG with multifocal slow activity, Diffuse cerebral atrophy, Abnormal myelination |
ORPHA:289266 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor |
ORPHA:79234 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Delayed CNS myelination, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis... |
OMIM:617710 |
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Leukodystrophy |
OMIM:620269 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Inability to walk, Optic atrophy, Hypsarrhythmia, CNS hypomyelination, ... |
ORPHA:86309 |
Lethal Congenital Contracture Syndrome 5 |
|
Decreased nerve conduction velocity, EEG with burst suppression |
OMIM:615368 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Neurodegeneration, Abnormal autonomic... |
ORPHA:478029 |
Pmp22-Rai1 Contiguous Gene Duplication Syndrome |
|
Decreased nerve conduction velocity, Broad-based gait, Decreased number of peripheral myelinated ... |
ORPHA:477817 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus, Leukodystrophy |
OMIM:618225 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Fucosidosis |
|
Splenomegaly, Vacuolated lymphocytes, Cerebral atrophy, CNS hypomyelination |
OMIM:230000 |
Marchiafava-Bignami Disease |
|
Ataxia, Facial palsy, Rigidity, Abnormal pyramidal sign, Gait ataxia, Hemiparesis, Gait disturban... |
ORPHA:221074 |
Ciliary Dyskinesia, Primary, 37 |
|
Female infertility |
OMIM:617577 |
Neuroferritinopathy |
|
Resting tremor, Parkinsonism, Writer's cramp, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Insulin resistance, Abnormal pyramidal sign, Hyperinsuli... |
ORPHA:363400 |
Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
EEG abnormality, CNS hypomyelination |
OMIM:614501 |
Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
Trisomy X |
|
Tremor, Secondary amenorrhea |
ORPHA:3375 |
Ovarian Dysgenesis 3 |
|
Primary amenorrhea, Female infertility |
OMIM:614324 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Spasticity |
OMIM:300957 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
|
Increased circulating IgE level, Lack of T cell function, T lymphocytopenia, B lymphocytopenia, L... |
ORPHA:277 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Severe demyelination of the white matter, Megaloblastic anemia, Atrophy of the spinal cord, Optic... |
ORPHA:79282 |
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Spastic tetraplegia, Athetosis, Hypertonia, Cerebral hypomyelination, Spasti... |
ORPHA:79351 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Axonal loss, Peripheral demyelination, Cerebral atrophy, Diffuse cerebral atrophy |
OMIM:252160 |
Neuromuscular Oculoauditory Syndrome |
|
Decreased nerve conduction velocity, Unsteady gait, Peripheral hypomyelination, Decreased amplitu... |
OMIM:618733 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Decreased nerve conduction velocity, Thrombocytopenia,... |
OMIM:214500 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Secondary Syringomyelia |
|
Somatic sensory dysfunction, Paraplegia, Sensory ataxia, Progressive cerebellar ataxia, Pseudobul... |
ORPHA:99857 |
3-Methylglutaconic Aciduria, Type Viia |
|
Cerebellar atrophy, Delayed CNS myelination, Anisopoikilocytosis, Neutropenia, Anemia |
OMIM:619835 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Peripheral axonal neuropathy, Facial-lingual fasciculatio... |
ORPHA:276244 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
|
Pancytopenia, Autoimmune hemolytic anemia, Abnormal CD4:CD8 ratio, Autoimmune thrombocytopenia, N... |
ORPHA:572 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Thrombocytopenia, Paralysis |
ORPHA:449285 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hemolytic anemia, Paralysis |
OMIM:612300 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia |
|
Primary amenorrhea, Azoospermia, Hypogonadism, Infertility, Decreased testicular size |
OMIM:229070 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Gait disturbance, Dysto... |
ORPHA:765 |
Joubert Syndrome 33 |
|
Splenomegaly, Delayed CNS myelination |
OMIM:617767 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ataxia, Babinski sign, Optic atrophy, Leukodystrophy, Dystonia |
OMIM:618226 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Gliosis |
ORPHA:457240 |
Leukodystrophy, Progressive, Early Childhood-Onset |
|
Optic disc pallor, Leukodystrophy, Cerebral atrophy |
OMIM:617762 |
Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Weakness due to upper motor neuron dysfunction, Parkinsonism, Hemipl... |
ORPHA:217260 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Dysmetria |
OMIM:615578 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Impaired T cell function, Pure red cell aplasia, Autoimmune ... |
OMIM:613179 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Axonal loss, Myoclonic spasms, Periphera... |
OMIM:252150 |
Immunodeficiency, Common Variable, 2 |
|
Impaired T cell function, Splenomegaly, Decreased circulating IgG level, Partial absence of speci... |
OMIM:240500 |
Myoclonic-Astatic Epilepsy |
|
EEG with polyspike wave complexes, EEG with focal spike waves, Ataxia, Tremor, Unsteady gait, Abn... |
ORPHA:1942 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Schilder Disease |
|
Ankle clonus, CNS demyelination, Ataxia |
ORPHA:59298 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Accessory spleen, CNS hypomyelination |
OMIM:619306 |
Immunodeficiency With Hyper-Igm, Type 1 |
|
Hemolytic anemia, Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circula... |
OMIM:308230 |
Aicardi-Goutieres Syndrome 5 |
|
Thrombocytopenia, Leukodystrophy |
OMIM:612952 |
Familial Cervical Artery Dissection |
|
Paralysis |
ORPHA:36382 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Hengel-Maroofian-Schols Syndrome |
|
Inability to walk, Tetraplegia, Abnormal CNS myelination, Gait imbalance, Dystonia, Spasticity, U... |
OMIM:619641 |
Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
Decreased number of small peripheral myelinated nerve fibers |
ORPHA:64752 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
|
Autoimmune hemolytic anemia, Eosinophilia, Increased circulating IgA level, Autoimmune thrombocyt... |
OMIM:603909 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopen... |
ORPHA:84064 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Inability to walk, Babinski sign, Optic atrophy, Spast... |
OMIM:615663 |
Machado-Joseph Disease Type 1 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal pyramidal sign, Clum... |
ORPHA:276241 |
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy |
|
Ataxia, Rigidity, Babinski sign, Abnormal pyramidal sign, Gait apraxia, Dysmetria, Abnormality of... |
OMIM:600142 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnormality of extrap... |
OMIM:615673 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Intermittent thrombocytopenia, Perianal abscess, Erythroid hypoplasia, Thrombocytopenia, Splenome... |
OMIM:612541 |
Wilson Disease |
|
Dystonia, Poor motor coordination, Decreased nerve conduction velocity, Tremor, Rigidity, Hypoest... |
OMIM:277900 |
Migraine, Familial Hemiplegic, 2 |
|
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
Tick-Borne Encephalitis |
|
Speech apraxia, Incoordination, Paralysis, Tremor, Leukocytosis, Increased circulating IgG level,... |
ORPHA:297 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
Ataxia-Telangiectasia |
|
Tremor, Choreoathetosis, Glucose intolerance, T lymphocytopenia, Hypoplasia of the thymus, Intent... |
OMIM:208900 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Increased mean platelet volume |
OMIM:222470 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Dysmetria, EEG abnormality, Decr... |
ORPHA:456312 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis |
OMIM:620161 |
Scheie Syndrome |
|
Abnormal nerve conduction velocity, Cerebral palsy, Spastic paraparesis |
ORPHA:93474 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Pyruvate Carboxylase Deficiency |
|
Athetosis, Clonus, Leukodystrophy |
OMIM:266150 |
Congenital Disorder Of Deglycosylation 1 |
|
Delayed CNS myelination, Pain insensitivity, Involuntary movements, Chorea, Delayed myelination, ... |
OMIM:615273 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Neonatal hypoglycemia, Tremor, Recurrent pneumonia, Neutropenia, Opisthotonus, Choreoathe... |
OMIM:616271 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Optic atrophy, Gait ataxia, Hyp... |
ORPHA:255210 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, EEG ... |
ORPHA:98794 |
Developmental And Epileptic Encephalopathy 84 |
|
Delayed CNS myelination, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus, Hypsarr... |
OMIM:618792 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Akinesia, Involuntary mo... |
ORPHA:48818 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Diabetes mellitus, Pneumonia, Leukocytosis, Pneumothorax, Acute infectious pneumoni... |
ORPHA:36238 |
Cockayne Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Cerebral dysmyelination, Action tremor, D... |
ORPHA:191 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Broad-based gait, Head titubation,... |
OMIM:619475 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Limb ataxia, Paraplegia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coordination, Dys... |
ORPHA:309854 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
EEG with burst suppression, Delayed CNS myelination, Hypsarrhythmia |
OMIM:619239 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Inability to walk, Paraparesis, Hyperkinetic... |
ORPHA:2912 |
Ciliary Dyskinesia, Primary, 36, X-Linked |
|
Male infertility |
OMIM:300991 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Typhoid |
|
Ataxia, Tremor, Splenomegaly, Abnormal pulmonary interstitial morphology, Hypertonia, Lethargy |
ORPHA:99745 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Limb myocl... |
ORPHA:139396 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Total anomalous pulmonary venous return, Increased mean platelet volume |
ORPHA:487796 |
Tay-Sachs Disease |
|
Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to walk, Optic atrophy,... |
ORPHA:845 |
Oculopharyngodistal Myopathy |
|
Loss of ambulation, Vocal cord paresis, Difficulty walking, Paraplegia |
ORPHA:98897 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait d... |
ORPHA:90321 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Clonus, Hypsarrhythmia, Hypertonia, Myoclonic spasms, Cerebral hypomyelina... |
ORPHA:447997 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Leukocytosis, Thrombocytopenia, Paralysis |
ORPHA:83601 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Cerebral atrophy, Optic atrophy, Leukodystrophy |
OMIM:615330 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Spasticity, Bradykinesia, Male sexual dysfunction, Gait imbalance, Dystonia, Fe... |
ORPHA:2828 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, Gliosis, Shuffling gait, Dystonia... |
ORPHA:411602 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Delayed myelination, Neurodegeneration, Brain atrop... |
OMIM:214150 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Cockayne Syndrome A |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:216400 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Primary amenorrhea, Dysmetria, Limb ataxia, Dysdiadochokinesis... |
OMIM:617675 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Decrease... |
OMIM:600802 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Optic atrophy, Abnormality of extrapyramidal motor function, Myoclonus, Leukodystrophy, S... |
OMIM:614299 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Bronchiolitis, Neutrophilia, Pneumonia, Reduction of neutrophil motility |
OMIM:266265 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Anemia, Increased circulating IgG level, Increased circulating IgM level,... |
ORPHA:319251 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Astrocytosis, Bradykine... |
OMIM:601104 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Decreased nerve con... |
OMIM:133540 |
Chédiak-Higashi Syndrome |
|
Somatic sensory dysfunction, Ataxia, Parkinsonism, Decreased nerve conduction velocity, Tremor, I... |
ORPHA:167 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations |
ORPHA:682 |
Galloway-Mowat Syndrome 10 |
|
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy |
OMIM:619609 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Inability to walk, Optic atrophy, Dysmetria, G... |
OMIM:617988 |
Insulinoma |
|
Nonketotic hypoglycemia, Reactive hypoglycemia, Tremor, Fasting hyperinsulinemia, Hyperinsulinemi... |
ORPHA:97279 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Decreased compound muscle action potential amplitude, Clonus |
OMIM:620080 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Impaired vibration sensation in the lower limbs, Abnormal pyramidal sign, ... |
ORPHA:447753 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Normochromic anemia, Myoclonus, Pleur... |
OMIM:254900 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Increased circulating interleukin 6 concentration, Reduced natural killer cell activity, Thromboc... |
ORPHA:540 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Vocal cord paralysis, Clumsiness, Ankle clonus, Tongue fasciculations, Knee... |
OMIM:211530 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Involuntary movements, Diaphragm... |
ORPHA:83597 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Ataxia, CNS hypomyelination, Hypertonia, Gait disturbance, Gliosis |
ORPHA:268261 |
D-Bifunctional Protein Deficiency |
|
Decreased nerve conduction velocity, Gliosis, Cerebral dysmyelination |
OMIM:261515 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Premature ovarian insufficiency, Irregular menstruation, Female infertility, Amenorrhea |
OMIM:110100 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Impaired n... |
OMIM:608203 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Wolfram Syndrome 1 |
|
Sideroblastic anemia, Diabetes mellitus, Ataxia, Megaloblastic anemia, Tremor, Thrombocytopenia |
OMIM:222300 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Recurrent pneumonia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Kallmann Syndrome |
|
Dyspareunia, Hypogonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Decreased fertility, ... |
ORPHA:478 |
Macrophage Activation Syndrome |
|
Increased circulating interleukin 6 concentration, Thrombocytopenia, Splenomegaly, Increased circ... |
ORPHA:158061 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
Amyotrophic Lateral Sclerosis |
|
Spasticity, Paralysis |
ORPHA:803 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Incoordination, Ataxia, Babinski sign, Decreased pyruvate carboxyla... |
OMIM:601992 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Recurrent respiratory infections, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute le... |
ORPHA:3226 |
Isolated Sedoheptulokinase Deficiency |
|
Hypochromic microcytic anemia, Abnormal CNS myelination, Anemia, Subcortical cerebral atrophy |
ORPHA:440713 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
|
Impaired lymphocyte transformation with phytohemagglutinin, Lymphopenia, Absent natural killer ce... |
ORPHA:35078 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Limb ataxia, Leukodystrophy, Truncal ataxia |
OMIM:619051 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Intention tremor |
OMIM:612780 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Dystonia, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ataxia, Le... |
ORPHA:431361 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Bone marrow hypocellularity, Neutropenia, ... |
ORPHA:101096 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... |
ORPHA:94080 |
Primary Ciliary Dyskinesia |
|
Male infertility, Abnormal sperm motility, Female infertility |
ORPHA:244 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis |
OMIM:188580 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Hyperinsulinemia, Fasting hypoglycemia, Glycosuria, Lethargy, Hyperinsulinemic hypoglycem... |
ORPHA:263455 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Defective DNA repair after ultraviolet radiat... |
OMIM:278800 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Cerebral atrophy, Leukodystrophy |
OMIM:614462 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Tremor, Dysmetria, Truncal ataxia, CNS demyelination, Spasticity, Peripheral de... |
OMIM:220111 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Unsteady gait, Astrocytosis, Abnormality of peripheral nerve conduction, Diffi... |
ORPHA:90324 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Tremor, Primary amenorrhea, Dysmetria, Progressive cerebellar ataxia, Dysdiado... |
ORPHA:502423 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Fasciculations |
ORPHA:99965 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Niemann-Pick Disease Type C |
|
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... |
ORPHA:646 |
Ciliary Dyskinesia, Primary, 9 |
|
Male infertility |
OMIM:612444 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Abnormal posturing |
OMIM:614857 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Dysmetria, Athetosis, Difficulty walkin... |
ORPHA:572798 |
Alg8-Cdg |
|
Optic atrophy, Anemia, Leukodystrophy, Cerebral cortical atrophy, Thrombocytopenia |
ORPHA:79325 |
Wiedemann-Rautenstrauch Syndrome |
|
Ataxia, Action tremor, Tremor, Optic atrophy, CNS hypomyelination, Hypertonia, Leukodystrophy, Tr... |
ORPHA:3455 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... |
ORPHA:2388 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... |
ORPHA:3299 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Ciliary Dyskinesia, Primary, 18 |
|
Male infertility, Immotile sperm |
OMIM:614874 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... |
OMIM:242700 |
Insensitivity To Pain, Congenital, With Anhidrosis |
|
Decreased number of small peripheral myelinated nerve fibers, Postural hypotension with compensat... |
OMIM:256800 |
Leigh Syndrome |
|
Ataxia, Involuntary movements, Chorea, Optic atrophy, Spastic diplegia, Hypsarrhythmia, Choreoath... |
ORPHA:506 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
|
Perianal abscess, Leukocytosis, Increased circulating IgE level, Spasticity, Increased circulatin... |
OMIM:618213 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Myoclonus, Loss of ambulation, Right hemiplegia |
OMIM:607426 |
Immunodeficiency 23 |
|
Hemolytic anemia, Eosinophilia, Abscess, Abnormal CNS myelination, Neutropenia, Lymphopenia |
OMIM:615816 |
Multiple Sulfatase Deficiency |
|
Splenomegaly, Optic atrophy, Abnormality of peripheral nerve conduction |
ORPHA:585 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Limb dystonia |
ORPHA:25 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
EEG with focal spike waves, Leukodystrophy |
ORPHA:370997 |
Hurler Syndrome |
|
Abnormal nerve conduction velocity, Cerebral palsy, Abnormal pyramidal sign, Spastic paraparesis |
ORPHA:93473 |
Acute Transverse Myelitis |
|
Impaired vibratory sensation, Orthostatic hypotension, Somatic sensory dysfunction, Dysesthesia, ... |
ORPHA:139417 |
Pemphigus Erythematosus |
|
Antinuclear antibody positivity, Anti-acetylcholine receptor antibody positivity, Autoimmunity, S... |
ORPHA:79480 |
Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia |
ORPHA:220497 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
Ciliary Dyskinesia, Primary, 14 |
|
Male infertility, Reduced sperm motility, Immotile sperm |
OMIM:613807 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Dystonia, Inability to walk, Chorea, Delayed myelination, Optic atrophy, Athet... |
ORPHA:404454 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Tip-toe gait, Vocal cord paralysis, Gait disturbance |
ORPHA:98853 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Tremor, Hypogonadism, Ataxia |
ORPHA:79095 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Orotic Aciduria |
|
Impaired T cell function, Anisocytosis, Folate-unresponsive megaloblastic anemia, Pyrimidine-resp... |
OMIM:258900 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Abnormal lung morphology, Anemia |
ORPHA:54251 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Sideroblastic anemia, Delayed CNS myelination, Splenomegaly, Schistocytosis, Hypochromic microcyt... |
OMIM:616084 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, EEG with burst suppression, Delayed myelination, Hypsarrhythmia, Choreoathetosis, EEG abn... |
ORPHA:1934 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Unsteady gait, Norm... |
OMIM:615512 |
Pneumocystosis |
|
Multiple pulmonary cysts, Abnormal neutrophil count, Acute infectious pneumonia, Interstitial pne... |
ORPHA:723 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:612199 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Dystonia, Spasticity |
ORPHA:500144 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He... |
ORPHA:79124 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Pancytopenia, Broad-based gait, Paralysis, Abnormality of the spleen, Splenomegaly, Spastic parap... |
ORPHA:2072 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... |
ORPHA:2203 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Delayed CNS myelination, Cerebral atrophy, Leukodystrophy, Neutropenia |
OMIM:615471 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Leukopenia, Hemophagocytosis, CNS demyeli... |
OMIM:603553 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Optic ... |
OMIM:614947 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility |
ORPHA:2239 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Periodic paralysis |
ORPHA:37553 |
Methylmalonic Aciduria, Cbla Type |
|
Pancytopenia, Tremor, Anemia, Neutropenia, Lethargy, Thrombocytopenia |
OMIM:251100 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Splenomegaly, Ataxia, Impaired T cell function |
OMIM:201100 |
Alexander Disease |
|
Ataxia, Clonus, Facial palsy, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormali... |
ORPHA:58 |
Tsh-Secreting Pituitary Adenoma |
|
Decreased female libido, Hypogonadotropic hypogonadism, Female hypogonadism, Decreased fertility ... |
ORPHA:91347 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity |
ORPHA:2396 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Tetraplegia, Respiratory paralysis, Periodic hypokalemic paresis |
ORPHA:79102 |
Orofaciodigital Syndrome Xiv |
|
Optic disc coloboma, CNS hypomyelination |
OMIM:615948 |
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cerebral hypomyelination, Broad-based gait, Gait ataxia |
ORPHA:513456 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Akinesia, Abnormality of the... |
ORPHA:3385 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination |
ORPHA:67045 |
Ciliary Dyskinesia, Primary, 19 |
|
Male infertility |
OMIM:614935 |
Arnold-Chiari Malformation Type I |
|
Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the vestibulocochl... |
ORPHA:268882 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Aicardi-Goutieres Syndrome 1 |
|
Splenomegaly, CNS demyelination, Thrombocytopenia, Cerebral atrophy |
OMIM:225750 |
Rere-Related Neurodevelopmental Syndrome |
|
CNS demyelination, Optic atrophy |
ORPHA:494344 |
Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination, Cerebral atrophy |
OMIM:614886 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Broad-based gait, Ataxia, Dystonia, Loss ... |
OMIM:256810 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, N... |
OMIM:617799 |
Cryptogenic Organizing Pneumonia |
|
Neutrophilia, Leukocytosis, Pneumothorax |
ORPHA:1302 |
Gitelman Syndrome |
|
Ataxia, Paralysis |
OMIM:263800 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Decreased distal sensory nerve action potential, Distal sensory impairment |
OMIM:606071 |
Hurler Syndrome |
|
Splenomegaly, Abnormal CNS myelination, Neurodegeneration, Hepatosplenomegaly |
OMIM:607014 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Tetraparesis |
OMIM:203700 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
Relapsing Fever |
|
Neutrophilia, Leukocytosis, Anemia, Leukopenia, Thrombocytopenia |
ORPHA:91547 |
Adult-Onset Still Disease |
|
Neutrophilia, Recurrent pharyngitis, Leukocytosis, Splenomegaly, Pleuritis |
ORPHA:829 |
47,Xyy Syndrome |
|
Male infertility, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism |
ORPHA:8 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Extramedullary hematopoiesis, Anemia, Hepatosplenomegaly |
OMIM:259730 |
Mucopolysaccharidosis Type 2 |
|
Decreased nerve conduction velocity, Papilledema, Optic atrophy |
ORPHA:580 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Streak ovary, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Female infertility... |
ORPHA:572333 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension |
OMIM:223900 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Leukodystrophy |
OMIM:601539 |
Sweet Syndrome |
|
Acute myeloid leukemia, Increased circulating interleukin 6 concentration, Neutrophilia, Leukocyt... |
ORPHA:3243 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Vocal cord paralysis, Schw... |
ORPHA:221098 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, Splenomegaly, CNS hypomyelination |
OMIM:619534 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Ataxia, Optic neuropathy, Leukodystrophy |
ORPHA:2609 |
Sjogren Syndrome |
|
Autoimmunity, Rheumatoid arthritis |
OMIM:270150 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis |
ORPHA:142 |
Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Pain insensitivity, Somatic sensory dysfunction, Impaired temperature sensation, Distal sensory i... |
ORPHA:642 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia |
OMIM:274150 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Bohring-Opitz Syndrome |
|
Delayed peripheral myelination |
OMIM:605039 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis, Increased circulating IgG4 level |
ORPHA:64744 |
Leukocyte Adhesion Deficiency Type Ii |
|
Neutrophilia, Ataxia, Microcytic anemia, Leukocytosis, Recurrent pneumonia, Impaired tandem gait,... |
ORPHA:99843 |
Hereditary Orotic Aciduria |
|
Splenomegaly, Impaired T cell function, Anemia |
ORPHA:30 |
Distal Renal Tubular Acidosis |
|
Hemolytic anemia, Paralysis |
ORPHA:18 |
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Spastic tetraplegia, Hypsarrhythmia, Hypertonia, Dystonia, CNS demyelination |
OMIM:620024 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Neutrophilia, Pulmonary fibrosis, Abscess |
OMIM:612852 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Abnormal CNS myelination |
OMIM:232300 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
Monosomy 18Q |
|
Choreoathetosis, Poor coordination, Abnormal myelination |
ORPHA:1600 |
Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Paresthesia |
ORPHA:285 |
T-Cell Immunodeficiency With Thymic Aplasia |
|
Decreased proportion of naive T cells, Aplasia of the thymus, T lymphocytopenia, Coombs-positive ... |
ORPHA:83471 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Ataxia, Optic neuropathy, Babinski sign, Tongue fasciculations, Leukodystrophy... |
OMIM:252010 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Bilateral cryptorchidism, Primary amenorrhea, Azoospermia, Male sexual dysfunction |
ORPHA:90797 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal si... |
ORPHA:51 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Bilateral cryptorchidism, Irregular menstruation, Decreased fertility, Primary ... |
ORPHA:90793 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Primary testicular failure, Oligozoospermia, Hypogonadism, Abnormal testis morp... |
ORPHA:85450 |
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Delayed peripheral myelination |
ORPHA:364577 |
Acute Generalized Exanthematous Pustulosis |
|
Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia |
ORPHA:293173 |
Vici Syndrome |
|
Abnormal posturing |
OMIM:242840 |
Gitelman Syndrome |
|
Iron deficiency anemia, Paralysis |
ORPHA:358 |
Ciliary Dyskinesia, Primary, 1 |
|
Male infertility |
OMIM:244400 |
Tyrosinemia, Type I |
|
Splenomegaly, Anemia, Periodic paralysis |
OMIM:276700 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Splenomegaly, Abnormal pyramidal sign, Hypertonia, Gait disturbance, ... |
ORPHA:581 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99413 |
Mosaic Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99228 |
Monosomy X |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:99226 |
Turner Syndrome |
|
Secondary amenorrhea, Premature ovarian insufficiency, Primary amenorrhea, Female infertility |
ORPHA:881 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Hypergonadotropic hypogonadism, Decreased fertility in females, C... |
ORPHA:251510 |
Fanconi Anemia, Complementation Group A |
|
Male infertility, Cryptorchidism, Hypergonadotropic hypogonadism |
OMIM:227650 |
Familial Mediterranean Fever |
|
Neutrophilia, Splenomegaly, Leukocytosis, Pleural effusion, Pleuritis |
OMIM:249100 |
Rabson-Mendenhall Syndrome |
|
CNS demyelination |
ORPHA:769 |
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Leukodystrophy |
OMIM:619575 |
Parenteral Nutrition-Associated Cholestasis |
|
Splenomegaly, Abnormality of cytokine secretion |
ORPHA:567983 |
Degcags Syndrome |
|
Pancytopenia, Congenital hypoplastic anemia, Vocal cord paralysis, Hepatosplenomegaly, Leukopenia... |
OMIM:619488 |
Feingold Syndrome 1 |
|
Asplenia, Vocal cord paralysis, Polysplenia, Accessory spleen |
OMIM:164280 |
Schinzel-Giedion Syndrome |
|
Myeloid leukemia, Hypertonia, Vocal cord paralysis, Spasticity |
ORPHA:798 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Streak ovary, Unilateral cryptorchidism, Bilateral cryptorchidism, Cryptorchidi... |
ORPHA:1772 |
Sarcoidosis, Susceptibility To, 1 |
|
Splenomegaly, Abnormality of T cell physiology, Increased circulating antibody level, Pancytopenia |
OMIM:181000 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Unilateral vocal cord paralysis |
ORPHA:324540 |
Van Esch-O'Driscoll Syndrome |
|
Spasticity, Unilateral vocal cord paralysis |
OMIM:301030 |
Codas Syndrome |
|
Vocal cord paresis |
OMIM:600373 |
Esophageal Atresia |
|
Vocal cord paresis, Hypertonia |
ORPHA:1199 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Abnormality of T cell physiology |
ORPHA:2237 |
Cystic Fibrosis |
|
Male infertility |
OMIM:219700 |
Williams-Beuren Syndrome |
|
Poor coordination, Vocal cord paralysis, Gait imbalance, Incoordination |
OMIM:194050 |
Orofaciodigital Syndrome Type 14 |
|
Abnormal myelination |
ORPHA:434179 |