Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
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Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Abnormal pyramidal sign, Truncal ataxia, F... |
ORPHA:95434 |
Charcot-Marie-Tooth Disease, Type 4J |
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Decreased nerve conduction velocity, Peripheral hypomyelination, Onion bulb formation, Decreased ... |
OMIM:611228 |
Developmental And Epileptic Encephalopathy 92 |
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Ataxia, EEG abnormality, Inability to walk, Myoclonus, Difficulty walking, Seizure, Lethargy |
OMIM:617829 |
Chronic Inflammatory Demyelinating Polyneuropathy |
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Motor conduction block, Decreased nerve conduction velocity, Segmental peripheral demyelination/r... |
ORPHA:2932 |
Megalencephaly With Dysmyelination |
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EEG with photoparoxysmal response, Ataxia, Spasticity, Seizure |
OMIM:249240 |
Perioral Myoclonia With Absences |
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EEG with spike-wave complexes, Generalized myoclonic seizure, Falls, Bilateral tonic-clonic seizu... |
ORPHA:139426 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
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Ataxia, Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, On... |
OMIM:601098 |
Subacute Inflammatory Demyelinating Polyneuropathy |
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Motor conduction block, Decreased nerve conduction velocity, Decreased sensory nerve conduction v... |
ORPHA:206594 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures |
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Atonic seizure, Tonic seizure, Infantile spasms, Myoclonic seizure, Bilateral tonic-clonic seizur... |
OMIM:619964 |
Charcot-Marie-Tooth Disease, Dominant Intermediate C |
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Difficulty walking, Decreased motor nerve conduction velocity, Axonal regeneration, Decreased sen... |
OMIM:608323 |
Epilepsy, Familial Adult Myoclonic, 3 |
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EEG with photoparoxysmal response, Jerk-locked premyoclonus spikes, Myoclonus, Giant somatosensor... |
OMIM:613608 |
Early Myoclonic Encephalopathy |
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Focal motor seizure, EEG abnormality, Generalized myoclonic seizure, Myoclonus, Infantile spasms,... |
ORPHA:1935 |
Developmental Delay With Dysmorphic Facies And Dental Anomalies |
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Ataxia, EEG abnormality, Spasticity, Seizure |
OMIM:619228 |
Epilepsy, Familial Adult Myoclonic, 1 |
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EEG with photoparoxysmal response, Generalized myoclonic seizure, Jerk-locked premyoclonus spikes... |
OMIM:601068 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
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Gait disturbance, Excessive daytime somnolence, Ataxia, Abnormal nerve conduction velocity |
ORPHA:101075 |
Glut1 Deficiency Syndrome 1 |
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Ataxia, EEG abnormality, Myoclonus, Confusion, Paroxysmal lethargy, Choreoathetosis, Seizure, Let... |
OMIM:606777 |
Hepatic Venoocclusive Disease With Immunodeficiency |
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Abnormality of the liver, Decreased circulating IgG level, Absence of lymph node germinal center |
OMIM:235550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
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Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Perip... |
OMIM:118210 |
Neuropathy, With Paraprotein In Serum, Cerebrospinal Fluid And Urine |
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Decreased nerve conduction velocity, Polyneuritis, Peripheral demyelination |
OMIM:162600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D |
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Decreased motor nerve conduction velocity, Steppage gait |
OMIM:607678 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
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Ataxia, Bradykinesia, Decreased nerve conduction velocity |
OMIM:183050 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
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Impaired vibratory sensation, Decreased motor nerve conduction velocity, Abnormal motor neuron mo... |
DECIPHER:29 |
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8 |
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EEG abnormality, Confusion, Lethargy, Seizure |
OMIM:617900 |
Spermatogenic Failure 20 |
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Absent sperm flagella, Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
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Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Decreas... |
OMIM:605285 |
Benign Paroxysmal Torticollis Of Infancy |
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Ataxia, Drowsiness, Abnormal head movements |
ORPHA:71518 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
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Vestibular schwannoma, Decreased compound muscle action potential amplitude, Steppage gait |
OMIM:613641 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
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Decreased motor nerve conduction velocity, Steppage gait |
OMIM:302801 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
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Typical absence seizure, Bilateral tonic-clonic seizure with generalized onset, Atonic seizure, C... |
ORPHA:2590 |
Null Syndrome |
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Ataxia, Inability to walk, Decreased nerve conduction velocity, Optic atrophy, Difficulty walking... |
ORPHA:280234 |
Epilepsy, Familial Adult Myoclonic, 4 |
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Jerk-locked premyoclonus spikes, Myoclonus, Bilateral tonic-clonic seizure, Seizure, Enhancement ... |
OMIM:615127 |
Methylmalonic Acidemia With Homocystinuria, Type Cbld |
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Gait disturbance, Lethargy, Seizure |
ORPHA:79283 |
Sorbitol Dehydrogenase Deficiency With Peripheral Neuropathy |
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Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Diff... |
OMIM:618912 |
Epilepsy, Familial Temporal Lobe, 5 |
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Focal impaired awareness seizure, EEG with spike-wave complexes, Focal aware seizure, Visually-in... |
OMIM:614417 |
Continuous Spikes And Waves During Sleep |
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Typical absence seizure, Focal impaired awareness seizure, EEG with generalized polyspikes, EEG w... |
ORPHA:725 |
Neuronopathy, Distal Hereditary Motor, Type Vc |
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Difficulty walking, Decreased compound muscle action potential amplitude |
OMIM:619112 |
Immunodeficiency 48 |
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Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Panhypogammaglobulinemia, Absence of CD8... |
OMIM:269840 |
Spermatogenic Failure 72 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Short s... |
OMIM:619867 |
Spermatogenic Failure 46 |
|
Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Short sperm flagell... |
OMIM:619095 |
Spermatogenic Failure 43 |
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Coiled sperm flagella, Reduced sperm motility, Male infertility, Absent sperm axoneme central pai... |
OMIM:618751 |
Spermatogenic Failure 49 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
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Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Male infertility, Absent spe... |
OMIM:619094 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
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Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, St... |
OMIM:610100 |
Developmental And Epileptic Encephalopathy 41 |
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EEG abnormality, Inability to walk, Hypsarrhythmia, Seizure, Lethargy |
OMIM:617105 |
Pituitary Carcinoma |
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Pituitary growth hormone cell adenoma, Enlarged pituitary gland, Elevated circulating growth horm... |
ORPHA:300385 |
Caspase 8 Deficiency |
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Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
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Motor stereotypy, Ataxia, EEG abnormality, Focal motor status epilepticus, Poor coordination, Cho... |
OMIM:619150 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
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Torticollis, Ataxia, Hyperkinetic movements, Chorea, Tremor, Bilateral tonic-clonic seizure, Dyst... |
OMIM:618425 |
Spermatogenic Failure 3 |
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Male infertility, Reduced sperm motility |
OMIM:606766 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
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Hyperkinetic movements, Chorea, Frequent falls, Tremor, Hemiballismus, Unsteady gait, Seizure |
OMIM:616921 |
Spermatogenic Failure, Y-Linked, 1 |
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Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
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Male infertility, Reduced sperm motility |
OMIM:619380 |
Mantle Cell Lymphoma |
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Anorexia, Weight loss, Lymphadenopathy, Splenomegaly |
ORPHA:52416 |
Immunodeficiency 24 |
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Decreased circulating IgG level, Lymphopenia, Defective T cell proliferation, Decreased specific ... |
OMIM:615897 |
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome |
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Abnormal peripheral action potential amplitude, EEG abnormality, Decreased nerve conduction veloc... |
ORPHA:457205 |
Spermatogenic Failure 62 |
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Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619673 |
Spermatogenic Failure 61 |
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Non-obstructive azoospermia, Male infertility, Early spermatogenesis maturation arrest |
OMIM:619672 |
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4 |
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Bilateral tonic-clonic seizure, Generalized myoclonic seizure, EEG with polyspike wave complexes |
OMIM:611364 |
Spermatogenic Failure 59 |
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Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
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Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
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Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
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Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619878 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
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Onion bulb formation, Decreased nerve conduction velocity, Peripheral demyelination |
OMIM:608236 |
Progressive Myoclonic Epilepsy Type 1 |
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Ataxia, Morning myoclonic jerks, Limb ataxia, EEG with polyspike wave complexes, Intention tremor... |
ORPHA:308 |
Charcot-Marie-Tooth Disease, Type 4H |
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Peripheral hypomyelination, Onion bulb formation, Decreased motor nerve conduction velocity, Decr... |
OMIM:609311 |
Immunodeficiency 83, Susceptibility To Viral Infections |
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EEG abnormality, Confusion, Lethargy, Seizure |
OMIM:613002 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Lack of T cell function, Failure to thrive, Lymphopenia, Diarrhea, B lymphocytopenia, T lymphocyt... |
ORPHA:277 |
Immunodeficiency 104 |
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Hepatomegaly, Gastroesophageal reflux, Splenomegaly, Diarrhea, T lymphocytopenia, Failure to thri... |
OMIM:608971 |
Severe Primary Trimethylaminuria |
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Depression, Anxiety, Low self esteem, Aggressive behavior, Emotional lability, Negative affectivity |
ORPHA:468726 |
Autosomal Recessive Spastic Paraplegia Type 57 |
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Optic atrophy, Abnormality of peripheral nerve conduction, Inability to walk |
ORPHA:431329 |
Developmental And Epileptic Encephalopathy 58 |
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Status epilepticus, Motor stereotypy, Inability to walk, Spastic diplegia, Optic atrophy, Hypsarr... |
OMIM:617830 |
Spermatogenic Failure 56 |
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Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619515 |
Spermatogenic Failure 65 |
|
Reduced progressive sperm motility, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced... |
OMIM:619712 |
Squamous Cell Carcinoma Of The Esophagus |
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Feeding difficulties in infancy, Nausea and vomiting, Lymphadenopathy |
ORPHA:99977 |
Spermatogenic Failure, X-Linked, 3 |
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Coiled sperm flagella, Irregularly shaped sperm tail, Reduced sperm motility, Oligospermia, Short... |
OMIM:301059 |
Spermatogenic Failure 58 |
|
Reduced progressive sperm motility, Immotile sperm, Irregularly shaped sperm tail, Oligospermia, ... |
OMIM:619585 |
Spermatogenic Failure 40 |
|
Immotile sperm, Coiled sperm flagella, Oligospermia, Short sperm flagella, Male infertility, Abse... |
OMIM:618664 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
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Peripheral axonal atrophy, Onion bulb formation, Decreased motor nerve conduction velocity, Decre... |
OMIM:605588 |
Spermatogenic Failure 47 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Absent sperm flagella |
OMIM:619102 |
Developmental And Epileptic Encephalopathy 97 |
|
Inability to walk, Stereotypical hand wringing, Epileptic spasm, Tremor, Hypsarrhythmia, Seizure |
OMIM:619561 |
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia |
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Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Cervical l... |
OMIM:618987 |
Spermatogenic Failure 7 |
|
Oligospermia, Immotile sperm, Male infertility, Reduced sperm motility |
OMIM:612997 |
Epilepsy, Familial Temporal Lobe, 1 |
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Focal sensory seizure with olfactory features, Focal sensory seizure with vestibular features, De... |
OMIM:600512 |
Early-Onset X-Linked Optic Atrophy |
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Decreased nerve conduction velocity, Dysdiadochokinesis, Optic atrophy, Optic disc pallor, Choreo... |
ORPHA:98890 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
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Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:615376 |
Spermatogenic Failure 11 |
|
Oligospermia, Abnormal sperm morphology, Male infertility, Reduced sperm motility |
OMIM:615081 |
Neuronopathy, Distal Hereditary Motor, Type Vb |
|
Decreased motor nerve conduction velocity |
OMIM:614751 |
Developmental And Epileptic Encephalopathy 6B |
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Motor stereotypy, Ataxia, Inability to walk, Focal hemiclonic seizure, Tonic seizure, EEG with sp... |
OMIM:619317 |
Epilepsy, Progressive Myoclonic, 11 |
|
Ataxia, Intention tremor, Myoclonus, Rigidity, Giant somatosensory evoked potentials, Seizure |
OMIM:618876 |
X-Linked Charcot-Marie-Tooth Disease Type 6 |
|
Difficulty walking, Decreased nerve conduction velocity, Steppage gait |
ORPHA:352675 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Peripheral axonal neuropathy, Lethargy |
OMIM:613710 |
Parkinsonism With Polyneuropathy |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Decr... |
OMIM:619279 |
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant |
|
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... |
OMIM:616040 |
Spermatogenic Failure 48 |
|
Spermatogenesis maturation arrest, Oligospermia, Azoospermia, Male infertility |
OMIM:619108 |
Spermatogenic Failure 1 |
|
Cryptozoospermia, Oligospermia, Male infertility |
OMIM:258150 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Optic atrophy, Gait disturbance, Excessive daytime somnolence, Abnormal nerve conduction ... |
ORPHA:99014 |
Spermatogenic Failure 42 |
|
Microcephalic sperm head, Coiled sperm flagella, Reduced sperm motility, Short sperm flagella, Ma... |
OMIM:618745 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Gait disturbance, Decreased nerve conduction velocity, Peripheral demyelination |
ORPHA:99944 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E |
|
Inability to walk, Abnormal motor evoked potentials, Decreased nerve conduction velocity, Periphe... |
ORPHA:99939 |
Spermatogenic Failure 39 |
|
Coiled sperm flagella, Reduced sperm motility, Oligospermia, Short sperm flagella, Male infertili... |
OMIM:618643 |
Spermatogenic Failure 54 |
|
Coiled sperm flagella, Reduced sperm motility, Cryptozoospermia, Oligospermia, Short sperm flagel... |
OMIM:619379 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Myoclonus, Ataxia, Generalized myoclonic seizure, Seizure |
OMIM:208700 |
Developmental And Epileptic Encephalopathy 40 |
|
Myoclonus, Choreoathetosis, Hypsarrhythmia, Seizure, Lethargy |
OMIM:617065 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Ataxia, EEG abnormality, Focal impaired awareness seizure, Generalized myoclonic seizure, Myoclon... |
OMIM:617831 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Bradykinesia, Limb ataxia, Limb myoclonus, Gait ataxia, Abnormal nerve conduction velocity |
OMIM:619862 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Atypical absence seizure, Atonic seizure, Absence seizure with eyelid myoclonia, Focal impaired a... |
OMIM:618587 |
Spermatogenic Failure 41 |
|
Immotile sperm, Oligospermia, Short sperm flagella, Male infertility, Tapered sperm head |
OMIM:618670 |
Spermatogenic Failure 5 |
|
Male infertility, Macrocephalic sperm head, Multiflagellar spermatozoa |
OMIM:243060 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B2 |
|
Decreased motor nerve conduction velocity |
OMIM:605589 |
Male Infertility Due To Acephalic Spermatozoa |
|
Reduced sperm motility, Oligospermia, Acephalic spermatozoa, Male infertility, Abnormal sperm mid... |
ORPHA:529970 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Gait disturbance, Ataxia, Decreased nerve conduction velocity |
ORPHA:101078 |
Spermatogenic Failure 44 |
|
Acephalic spermatozoa, Male infertility, Reduced sperm motility |
OMIM:619044 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Falls, Myoclonus |
OMIM:614937 |
Immunodeficiency 19 |
|
Failure to thrive, Diarrhea, Lymphopenia |
OMIM:615617 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Myoclonus, Myoclonic seizure, Parkinsonism, Bilateral tonic-clonic seizure, Seizure, Abno... |
OMIM:162350 |
Spermatogenic Failure 22 |
|
Cryptozoospermia, Male infertility, Non-obstructive azoospermia |
OMIM:617706 |
Immunodeficiency 18 |
|
Defective T cell proliferation, Recurrent gastroenteritis, Lymphopenia, Decreased proportion of C... |
OMIM:615615 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Acephalic spermatozoa, Male infertility |
OMIM:618112 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Atonic seizure, Loss of ambulation, EEG with spike-wave complexes, Myoclonus, Tremor, Myo... |
OMIM:614018 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Hemiplegia, Ataxia, Abnormality of extrapyramidal motor function, Abnormal pyramidal sign, Gait d... |
OMIM:614561 |
Primary Lateral Sclerosis, Adult, 1 |
|
Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic tetraparesis, ... |
OMIM:611637 |
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency |
|
Agammaglobulinemia, Hypoplasia of the thymus, Lymphopenia |
OMIM:200900 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, G... |
OMIM:603472 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Ataxia, EEG abnormality, Myoclonus, Seizure |
OMIM:600143 |
Immunodeficiency 52 |
|
Failure to thrive, Increased proportion of gamma-delta T cells, Lymphopenia, Coombs-positive hemo... |
OMIM:617514 |
Immunodeficiency 105 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Hepatosplenomegaly... |
OMIM:619924 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased amplitude of sensory action potentials, Decreased number of large peripheral myelinated... |
OMIM:608673 |
Developmental And Epileptic Encephalopathy 94 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Tonic seizure, EEG with genera... |
OMIM:615369 |
Developmental And Epileptic Encephalopathy 104 |
|
Clonic seizure, Focal impaired awareness seizure, Tonic seizure, Epileptic spasm, Bilateral tonic... |
OMIM:619970 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, Bilateral tonic-clonic seizure, Generalized myoclonic seizure |
ORPHA:22 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Immunodeficiency 64 |
|
Failure to thrive, Decreased lymphocyte proliferation in response to mitogen, Decreased circulati... |
OMIM:618534 |
Immunodeficiency 14A, Autosomal Dominant |
|
Splenomegaly, Decreased specific pneumococcal antibody level, T lymphocytopenia, Decreased propor... |
OMIM:615513 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Inability to walk, Convulsive status epilepticus, Stereotypical hand wringing, C... |
OMIM:618760 |
Pulmonary Nodular Lymphoid Hyperplasia |
|
Follicular hyperplasia, Mediastinal lymphadenopathy, Plasmacytosis |
ORPHA:60026 |
Epilepsy, Progressive Myoclonic, 8 |
|
EEG with photoparoxysmal response, Limb ataxia, Myoclonus, Action myoclonus, Truncal ataxia, Fall... |
OMIM:616230 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Peripheral axonal atrophy, Decreased motor nerve conduction velocity, Decreased number of periphe... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Myelin outfoldings, Irregular myelin loops, Abnormal a... |
OMIM:601382 |
Autism, Susceptibility To, X-Linked 3 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:300496 |
Autism, Susceptibility To, X-Linked 1 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:300425 |
Immunodeficiency, Common Variable, 1 |
|
Decreased circulating IgA level, Neutropenia in presence of anti-neutropil antibodies, Decreased ... |
OMIM:607594 |
Autism |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:209850 |
Autism, Susceptibility To, 8 |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:607373 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Motor stereotypy, EEG abnormality, Seizure |
OMIM:608636 |
Spermatogenic Failure 70 |
|
Azoospermia, Oligospermia, Male infertility, Reduced sperm motility |
OMIM:619828 |
Developmental And Epileptic Encephalopathy 69 |
|
Status epilepticus, EEG abnormality, Inability to walk, Myoclonus, Hyperkinetic movements, Spasti... |
OMIM:618285 |
Dystonia 31 |
|
Leg dystonia, Parkinsonism, Craniofacial dystonia, Writer's cramp, Difficulty walking, Abnormal p... |
OMIM:619565 |
Neuronopathy, Distal Hereditary Motor, Type Iid |
|
Decreased motor nerve conduction velocity, Difficulty walking |
OMIM:615575 |
Spermatogenic Failure 4 |
|
Azoospermia, Male infertility |
OMIM:270960 |
Growth Hormone Deficiency, Isolated Partial |
|
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... |
OMIM:615925 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Peripheral axonal atrophy, Decreased sensory nerve conduction velocity, Onion bulb formation, Dec... |
OMIM:609260 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Decreased sensory nerve conduction velocity, Axonal d... |
OMIM:214400 |
Spermatogenic Failure 52 |
|
Azoospermia, Male infertility |
OMIM:619202 |
Spermatogenic Failure, Y-Linked, 2 |
|
Azoospermia, Male infertility |
OMIM:415000 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, EEG with spike-wave complexes, EEG with polyspike wave complexes, Myoclonus, Bilateral to... |
OMIM:254800 |
Spermatogenic Failure 64 |
|
Reduced progressive sperm motility, Oligospermia, Abnormal sperm head morphology, Male infertility |
OMIM:619696 |
Ceroid Lipofuscinosis, Neuronal, 11 |
|
Ataxia, EEG abnormality, Generalized myoclonic seizure, Optic atrophy, Seizure |
OMIM:614706 |
Juvenile Primary Lateral Sclerosis |
|
Gait imbalance, Abnormal pyramidal sign, Spastic dysarthria, Abnormal upper motor neuron morpholo... |
ORPHA:247604 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Gait ataxia, Decreased nerve conduction velocity, Peripheral demyelination, Seizure |
OMIM:249900 |
Spermatogenic Failure 57 |
|
Non-obstructive azoospermia, Male infertility, Spermatogenesis maturation arrest |
OMIM:619528 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616366 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Bradykinesia, Lethargy |
OMIM:618683 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Segmental peripheral demyelination/remyelination, Onion bulb... |
OMIM:601455 |
Homocystinuria Without Methylmalonic Aciduria |
|
Ataxia, Lethargy, Seizure |
ORPHA:622 |
N-Acetylaspartate Deficiency |
|
Motor stereotypy, Truncal ataxia, Unsteady gait, Seizure |
OMIM:614063 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Atypical absence seizure, Morning myoclonic jerks, EEG with spike-wave c... |
OMIM:607682 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:180800 |
Immunodeficiency With Hyper-Igm, Type 3 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B cell generati... |
OMIM:606843 |
Immunodeficiency 27A |
|
Histiocytosis, Enlarged mesenteric lymph node, Leukocytosis, Splenomegaly, Anorexia, Hepatospleno... |
OMIM:209950 |
Developmental And Epileptic Encephalopathy 37 |
|
Focal hemiclonic seizure, Myoclonus, Rigidity, Hyperkinetic movements, Chorea, Gait disturbance, ... |
OMIM:616981 |
X-Linked Acrogigantism |
|
Increased circulating insulin-like growth factor 1 concentration, Decreased thyroid-stimulating h... |
ORPHA:300373 |
Febrile Infection-Related Epilepsy Syndrome |
|
EEG abnormality, Lethargy, Focal-onset seizure |
ORPHA:163703 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Motor stereotypy, Tremor, Ataxia, Seizure |
OMIM:617862 |
Severe Combined Immunodeficiency, X-Linked |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly... |
OMIM:300400 |
Episodic Ataxia, Type 5 |
|
Typical absence seizure, Atypical absence seizure, Ataxia, EEG with spike-wave complexes, Myoclon... |
OMIM:613855 |
Lymphoproliferative Syndrome 3 |
|
Hepatosplenomegaly, Decreased circulating antibody level, Lymphadenopathy, Partial absence of spe... |
OMIM:618261 |
Huntington Disease-Like 1 |
|
EEG abnormality, Clumsiness, Poor fine motor coordination, Dysmetria, Bradykinesia, Simultanaprax... |
ORPHA:157941 |
Epilepsy, Myoclonic Juvenile |
|
Status epilepticus, Morning myoclonic jerks, EEG with generalized polyspikes, Bilateral tonic-clo... |
OMIM:254770 |
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias |
|
Lymphopenia, Absent specific antibody response, Follicular hyperplasia, Autoimmune thrombocytopen... |
OMIM:619846 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, ... |
OMIM:607706 |
Distal Hereditary Motor Neuropathy Type 5 |
|
Abnormal motor nerve conduction velocity, Unsteady gait |
ORPHA:139536 |
Charcot-Marie-Tooth Disease Type 1A |
|
Gait imbalance, Decreased motor nerve conduction velocity, Decreased sensory nerve conduction vel... |
ORPHA:101081 |
Hyperprolinemia, Type I |
|
Status epilepticus, Motor stereotypy, Ataxia, EEG abnormality, Seizure |
OMIM:239500 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Immotile sperm, Abnormal sperm morphology |
OMIM:608653 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Facial diplegia, Inability to walk, Onion bulb formation, Decreased motor nerve conduction veloci... |
OMIM:618184 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus, Seizure |
OMIM:616187 |
Mu-Heavy Chain Disease |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Abnormal B cell count, Weight l... |
ORPHA:100024 |
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities |
|
Motor stereotypy, Seizure |
OMIM:617787 |
Autosomal Dominant Epilepsy With Auditory Features |
|
Focal aware seizure, Abnormal autonomic nervous system physiology, EEG with focal epileptiform di... |
ORPHA:101046 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased nerve conduction velocity... |
ORPHA:90103 |
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1) |
|
Abnormality of the lymph nodes |
OMIM:136580 |
Spermatogenic Failure 63 |
|
Reduced progressive sperm motility, Oligospermia, Male infertility |
OMIM:619689 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Axonal degeneration, Decreased motor nerve conduction velocity, Peripheral axonal d... |
OMIM:614436 |
Methylmalonic Acidemia With Homocystinuria |
|
Gait disturbance, Lethargy, Seizure |
ORPHA:26 |
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation |
|
Failure to thrive, Lymphopenia, Hepatomegaly, Aplasia of the thymus, Splenomegaly, Abnormally low... |
OMIM:602450 |
Spermatogenic Failure 50 |
|
Spermatogenesis maturation arrest, Male infertility, Azoospermia |
OMIM:619145 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Status epilepticus, Ataxia, EEG abnormality, Myoclonus, Confusion, Choreoathetosis, Seizure, Leth... |
ORPHA:71277 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Decreased nerve conduction velocity, Seizure, Axonal degeneration |
OMIM:618138 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Focal hemifacial clonic seizure, Prolonged somatosensory evoked potentials, Myoclonus, Writer's c... |
OMIM:608105 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Myoclonus, Parkinsonism, Chorea, Choreoathetosis, Seizure, Dystonia |
OMIM:125370 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Intention tremor, Myoclonus, Progressive cerebellar ataxia, Progressive gait ataxia |
ORPHA:2589 |
Agammaglobulinemia 3, Autosomal Recessive |
|
Agammaglobulinemia, Diarrhea, Failure to thrive, Neutropenia |
OMIM:613501 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:607734 |
Seizures, Benign Familial Neonatal, Autosomal Recessive |
|
Normal interictal EEG, Bilateral tonic-clonic seizure |
OMIM:269720 |
Hereditary Motor And Sensory Neuropathy V |
|
Decreased motor nerve conduction velocity, Difficulty walking, Peripheral axonal neuropathy |
OMIM:600361 |
Developmental And Epileptic Encephalopathy 26 |
|
Atypical absence seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-cloni... |
OMIM:616056 |
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Diarrhea, Increased circulating IgG level, Autoimm... |
OMIM:618495 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity |
ORPHA:640 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1368 |
Centralopathic Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures, EEG with centrotemporal foca... |
OMIM:117100 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
|
Decreased specific anti-polysaccharide antibody level, Splenomegaly, Autoimmune thrombocytopenia,... |
OMIM:300853 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
EEG abnormality, Inability to walk, Myoclonus, Oculogyric crisis, Hyperkinetic movements, Chorea,... |
OMIM:614254 |
Autosomal Recessive Spastic Paraplegia Type 21 |
|
Gait disturbance, Abnormality of peripheral nerve conduction, Difficulty walking |
ORPHA:101001 |
Immunodeficiency 76 |
|
Colitis, Lymphopenia, Splenomegaly, B lymphocytopenia, T lymphocytopenia, Chronic diarrhea, Lymph... |
OMIM:619164 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block |
DECIPHER:31 |
Pituitary Dermoid And Epidermoid Cysts |
|
Amenorrhea, Enlarged pituitary gland, Panhypopituitarism, Oligomenorrhea, Oligospermia, Anterior ... |
ORPHA:91351 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Abnormal nervous system electrophysiology, Myoclonus, Seizure |
OMIM:204500 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased number of large peripheral myelinated nerve fibers, Decreased motor nerve conduction ve... |
OMIM:614895 |
Immunodeficiency 32A |
|
Lymphadenopathy |
OMIM:614893 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Segmental peripheral demyelination/remyelination, Decreased motor nerve conduction velocity, From... |
OMIM:162500 |
Leukodystrophy, Hypomyelinating, 18 |
|
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Dysmetria, Seizure |
OMIM:618404 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Gait disturbance, Onion bulb formation, Decreased nerve conduction velocity |
OMIM:615284 |
Spermatogenic Failure 71 |
|
Non-obstructive azoospermia, Male infertility |
OMIM:619831 |
Developmental And Epileptic Encephalopathy 33 |
|
Typical absence seizure, Myoclonic seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Unst... |
OMIM:616409 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Motor stereotypy, Ataxia, Seizure |
OMIM:618709 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Chronic axonal neuropathy, Decreased motor nerve conduction velocity, Steppage gait |
OMIM:606595 |
Developmental And Epileptic Encephalopathy 27 |
|
Myoclonus, Infantile spasms, Epileptic spasm, Chorea, Myoclonic seizure, Bilateral tonic-clonic s... |
OMIM:616139 |
Reticular Dysgenesis |
|
Lack of T cell function, Lymphopenia, Hypoplasia of the thymus, Leukopenia, Congenital agranulocy... |
OMIM:267500 |
Mitochondrial Complex I Deficiency, Nuclear Type 3 |
|
Ataxia, Lethargy, Seizure |
OMIM:618224 |
Developmental And Epileptic Encephalopathy 30 |
|
Motor stereotypy, Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Hypsarrhythmia, ... |
OMIM:616341 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Myoclonus, Chorea, Craniofacial dystonia, Optic atrophy, Gait disturbance, Involuntary mo... |
OMIM:617282 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3 |
|
Decreased nerve conduction velocity, Steppage gait |
OMIM:302802 |
Adenocarcinoma Of The Esophagus |
|
Gastroesophageal reflux, Feeding difficulties in infancy, Obesity, Nausea and vomiting, Lymphaden... |
ORPHA:99976 |
Benign Familial Infantile Epilepsy |
|
Status epilepticus, Focal motor seizure, Focal impaired awareness seizure, Generalized tonic seiz... |
ORPHA:306 |
Mendelian Susceptibility To Mycobacterial Diseases Due To Partial Irf8 Deficiency |
|
Lymphadenopathy |
ORPHA:319600 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:118220 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
|
Splenomegaly, Pancytopenia, Decreased helper T cell proportion, Cutaneous anergy, Hypersplenism |
OMIM:183350 |
Wolman Disease |
|
Adrenal insufficiency, Hepatomegaly, Abdominal distention, Splenomegaly, Hepatic failure, Cachexi... |
ORPHA:75233 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity |
ORPHA:868 |
Carcinoma Of Esophagus |
|
Gastroesophageal reflux, Dysphagia, Obesity, Weight loss, Lymphadenopathy |
ORPHA:70482 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive |
|
Motor stereotypy, EEG abnormality, Inability to walk, Involuntary movements, Spasticity, Seizure,... |
OMIM:617820 |
Lennox-Gastaut Syndrome |
|
Atypical absence seizure, Atonic seizure, EEG abnormality, Generalized myoclonic seizure, General... |
ORPHA:2382 |
Immunodeficiency With Hyper-Igm, Type 2 |
|
Decreased circulating IgA level, Recurrent infection of the gastrointestinal tract, Decreased cir... |
OMIM:605258 |
Deafness-Infertility Syndrome |
|
Reduced sperm motility, Abnormal sperm tail morphology, Male infertility, Abnormal spermatogenesi... |
OMIM:611102 |
Agammaglobulinemia 8B, Autosomal Recessive |
|
Failure to thrive, Decreased circulating IgA level, Decreased circulating IgG level, Decreased pr... |
OMIM:619824 |
Desmoplastic Small Round Cell Tumor |
|
Neoplasm of the pancreas, Ileus, Hepatomegaly, Ovarian neoplasm, Abdominal distention, Abdominal ... |
ORPHA:83469 |
Encephalopathy, Recurrent, Of Childhood |
|
Choreoathetosis, Truncal ataxia, Lethargy, Athetosis |
OMIM:130950 |
Infantile Spasms Syndrome |
|
Myoclonus, Infantile spasms, Hypsarrhythmia |
ORPHA:3451 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Myoclonus, Tremor, Involuntary movements, Seizure, Dystonia |
OMIM:611092 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Ataxia, Myoclonus, Babinski sign, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasciculations... |
OMIM:607317 |
Immunodeficiency, Common Variable, 2 |
|
Decreased circulating IgA level, Decreased circulating IgG level, Hepatomegaly, Splenomegaly, Par... |
OMIM:240500 |
Epilepsy, Idiopathic Generalized |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:600669 |
Severe Canavan Disease |
|
Inability to walk, Optic atrophy, Bilateral tonic-clonic seizure, Seizure, Lethargy |
ORPHA:314911 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Motor stereotypy, Clonic seizure, Inability to walk, Tonic seizure, Stereotypical hand wringing, ... |
OMIM:618917 |
Autosomal Recessive Non-Syndromic Intellectual Disability |
|
Motor stereotypy, EEG with focal epileptiform discharges, Epileptic spasm, Chorea, EEG with gener... |
ORPHA:88616 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Abnormal nervous system electrophysiology, Clumsiness, Dysmetria, Dysdiadochokinesis, Myo... |
OMIM:256731 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Parkinsonism, Rigidit... |
OMIM:605407 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Bilateral tonic-clonic seizure, Focal-onset seizure, Status epilepticus withou... |
OMIM:204300 |
Partial Chromosome Y Deletion |
|
Non-obstructive azoospermia, Abnormal spermatogenesis, Oligospermia, Male infertility |
ORPHA:1646 |
Spinocerebellar Ataxia Type 37 |
|
Dysdiadochokinesis, Myoclonus, Truncal ataxia, Falls, Limb dysmetria, Tremor, Somatic sensory dys... |
ORPHA:363710 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
|
Decreased proportion of naive T cells, Decreased circulating IgA level, Failure to thrive, Lympho... |
ORPHA:276 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Gait ... |
ORPHA:101077 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity |
OMIM:612577 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Ataxia, Limb ataxia, Babinski sign, Optic atrophy, Gait ataxia, Spasticity, Seizure |
OMIM:614322 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y |
|
Gait imbalance, Broad-based gait, Decreased nerve conduction velocity, Tip-toe gait, Peripheral a... |
ORPHA:435387 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
EEG with photoparoxysmal response, Ataxia, Blepharospasm, Jerk-locked premyoclonus spikes, EEG wi... |
OMIM:607876 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive cerebellar ataxia, EEG with focal epileptiform discharges, Myoclonus, Limb myoclonus,... |
ORPHA:263516 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Myoclonus, Abnormal pyramidal sign, Tremor, Spasticity, Seizure, Abnormality ... |
ORPHA:79262 |
Immunodeficiency 103, Susceptibility To Fungal Infections |
|
Abnormal proportion of CD8-positive T cells, Abnormal B cell count, Hypereosinophilia, Abnormal n... |
OMIM:212050 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Amyotrophic lateral sclerosis, Ataxia, Babinski sign, Spasticity of facial muscles, Difficulty wa... |
OMIM:205100 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
|
Feeding difficulties, Small for gestational age, Hypoplasia of the thymus, Decreased proportion o... |
OMIM:617241 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Myoclonus, Seizure |
OMIM:618356 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Myoclonus, Babinski sign, Tremor, Seizure, Abnormality of extrapyramidal motor function |
OMIM:615362 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Myoclonus, Hyperkinetic movements, Choreoathetosis, Seizure, Dystonia |
OMIM:618497 |
Immunodeficiency 38 With Basal Ganglia Calcification |
|
Lymphadenopathy |
OMIM:616126 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Generalized myoclonic seizure, Degeneration of anterior horn cells, Myoclonus, Fasciculations, To... |
OMIM:159950 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
|
Decreased lymphocyte proliferation in response to anti-CD3, Failure to thrive, Lymphopenia, Absen... |
OMIM:600802 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, EEG abnormality, Bradykinesia, Generalized myoclonic seizure, Rigidity, Tremor, Bilateral... |
OMIM:617836 |
Charcot-Marie-Tooth Disease Type 4G |
|
Gait imbalance, Loss of ambulation, Motor conduction block, Decreased motor nerve conduction velo... |
ORPHA:99953 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy, Hyperhidrosis |
ORPHA:86893 |
Immunodeficiency 97 With Autoinflammation |
|
Hemophagocytosis, Diarrhea, Decreased proportion of CD4+CD25+ regulatory T cells, Monocytopenia, ... |
OMIM:619802 |
Developmental And Epileptic Encephalopathy 107 |
|
Motor stereotypy, Clonic seizure, Tonic seizure, Seizure |
OMIM:620033 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
|
Increased circulating antibody level, Failure to thrive, Decreased lymphocyte proliferation in re... |
ORPHA:169154 |
Dravet Syndrome |
|
Status epilepticus, Ataxia, Atonic seizure, Focal hemiclonic seizure, Focal impaired awareness se... |
OMIM:607208 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Focal sensory seizure with visual features, Bilateral tonic-clonic seizure, Seizure, Foca... |
OMIM:615400 |
Craniopharyngioma |
|
Growth delay, Enlarged pituitary gland, Type II diabetes mellitus, Postnatal growth retardation, ... |
ORPHA:54595 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Motor stereotypy, Seizure |
OMIM:300271 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Onion bulb formation, Decreased motor nerve conduction velocity, Myelin outfoldings, Decreased nu... |
OMIM:118200 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Gait disturbance, Inability to walk, Abnormal sensory nerve conduction velocity |
ORPHA:276435 |
Benign Adult Familial Myoclonic Epilepsy |
|
EEG abnormality, Hand tremor, Myoclonus, Generalized-onset seizure, Focal-onset seizure |
ORPHA:86814 |
Deafness-Infertility Syndrome |
|
Azoospermia, Male infertility |
ORPHA:94064 |
Ataxia-Deafness-Intellectual Disability Syndrome |
|
Ataxia, Decreased nerve conduction velocity |
ORPHA:1188 |
Immunodeficiency 78 With Autoimmunity And Developmental Delay |
|
Neutropenia in presence of anti-neutropil antibodies, Fluctuating splenomegaly, Autoimmune thromb... |
OMIM:619220 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Abnormal head movements |
OMIM:616939 |
Immunodeficiency, Common Variable, 7 |
|
Chronic (near) absent circulating IgG4, Decreased circulating IgA level, Reduced isohemagglutinin... |
OMIM:614699 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Hemiplegia, Progressive extrapyramidal muscular rigidity, Bradykinesia, Resting tremor, Atypical ... |
ORPHA:225147 |
Immunodeficiency 72 With Autoinflammation |
|
Hepatosplenomegaly, Increased circulating IgG level, Increased B cell count, Increased circulatin... |
OMIM:618982 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Status epilepticus, Ataxia, Atonic seizure, Bradykinesia, Focal impaired awareness seizure, Gener... |
ORPHA:36387 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
|
Increased circulating antibody level, Decreased lymphocyte proliferation in response to mitogen, ... |
ORPHA:169160 |
Developmental And Epileptic Encephalopathy 43 |
|
Atypical absence seizure, Ataxia, Atonic seizure, Infantile spasms, Myoclonic seizure, Bilateral ... |
OMIM:617113 |
Hemimegalencephaly |
|
Status epilepticus, Focal motor seizure, EEG with focal spikes, Atonic seizure, EEG with polyspik... |
ORPHA:99802 |
Reticular Dysgenesis |
|
Failure to thrive, Leukopenia, Diarrhea, Abnormality of neutrophils, Weight loss, Decreased circu... |
ORPHA:33355 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Segmental peripheral demyelination/remyelination, Onion bulb formation, Decreased motor nerve con... |
OMIM:604563 |
Tsh-Secreting Pituitary Adenoma |
|
Impotence, Central adrenal insufficiency, Decreased fertility in males, Increased circulating pro... |
ORPHA:91347 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Myoclonus, Ataxia, Lethargy, Seizure |
OMIM:618225 |
Developmental And Epileptic Encephalopathy 56 |
|
Status epilepticus, Focal motor seizure, Ataxia, Action tremor, EEG abnormality, Broad-based gait... |
OMIM:617665 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Myoclonus, Parkinsonism, Rigidity, Chorea, Tremor, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Reticuloendotheliosis, X-Linked |
|
Anemia, Hepatosplenomegaly, Lymphadenopathy, Jaundice |
OMIM:312500 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Atonic seizure, EEG abnormality, Inability to walk, Dysmetria, Myoclonic seizure, Optic atrophy, ... |
OMIM:617810 |
Episodic Ataxia, Type 9 |
|
Status epilepticus, Clonic seizure, Tonic seizure, Bilateral tonic-clonic seizure, Seizure, Dysto... |
OMIM:618924 |
Epilepsy, Progressive Myoclonic, 9 |
|
Status epilepticus, Myoclonus, Gait ataxia, Seizure |
OMIM:616540 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Jerky head movements, Difficulty walking, Spastic gait, Spastic ataxia |
ORPHA:251282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2N |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy |
OMIM:613287 |
Epilepsy, Juvenile Absence, Susceptibility To, 1 |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, EEG with spike-wave c... |
OMIM:607631 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Hypertonia, Ataxia, Bradykinesia, Opisthotonus, Abnormality of extrapyramidal motor function, Ocu... |
ORPHA:13 |
Landau-Kleffner Syndrome |
|
Focal impaired awareness seizure, Focal myoclonic seizure, Slurred speech, Atypical absence seizu... |
ORPHA:98818 |
Immunodeficiency 69 |
|
Failure to thrive, Leukocytosis, Splenomegaly, Hepatosplenomegaly, Diarrhea, Thrombocytosis, Panc... |
OMIM:618963 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Ataxia, Generalized myoclonic seizure, Myoclonus, Spasticity, Seizure |
OMIM:545000 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Rigidity, Hyperkinetic movements, Chorea, Choreoathetosis, Involuntary movements, Pa... |
ORPHA:98810 |
Macular Degeneration, Age-Related, 3 |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity |
OMIM:608895 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
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EEG abnormality, Myoclonus, Babinski sign, Gait disturbance, Abnormal upper motor neuron morpholo... |
OMIM:221770 |
Alternating Hemiplegia Of Childhood 2 |
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Status epilepticus, Hemiplegia, Ataxia, Episodic quadriplegia, Choreoathetosis, Seizure, Dystonia... |
OMIM:614820 |
Paroxysmal Exertion-Induced Dyskinesia |
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Ataxia, Chorea, Choreoathetosis, Involuntary movements, Generalized non-motor (absence) seizure, ... |
ORPHA:98811 |
Striatonigral Degeneration, Infantile, Mitochondrial |
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Lingual dystonia, Myoclonus, Babinski sign, Motor tics, Chorea, Frequent falls, Difficulty walkin... |
OMIM:500003 |
Immunoglobulin Kappa Light Chain Deficiency |
|
Diarrhea, Abnormal immunoglobulin level |
OMIM:614102 |
Immunodeficiency With Hyper-Igm, Type 5 |
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Decreased circulating IgA level, Decreased circulating IgG level, Increased circulating IgM level... |
OMIM:608106 |
Charcot-Marie-Tooth Disease, Type 4C |
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Decreased number of large peripheral myelinated nerve fibers, Axonal degeneration, Decreased moto... |
OMIM:601596 |
Dravet Syndrome |
|
Focal impaired awareness seizure, Cogwheel rigidity, Photosensitive myoclonic seizure, Photosensi... |
ORPHA:33069 |
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
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Atonic seizure, Focal impaired awareness seizure, Continuous spike and waves during slow sleep, B... |
OMIM:245570 |
Spinocerebellar Ataxia 10 |
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Progressive cerebellar ataxia, Decreased nerve conduction velocity, Dysmetria, Limb ataxia, Brady... |
OMIM:603516 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
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Colitis, Hemophagocytosis, Splenomegaly, Abnormal natural killer cell physiology, Hepatosplenomeg... |
OMIM:613101 |
Charcot-Marie-Tooth Disease Type 2B1 |
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Decreased number of large peripheral myelinated nerve fibers, Inability to walk, Axonal degenerat... |
ORPHA:98856 |
Epilepsy, Progressive Myoclonic, 12 |
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Ataxia, Dysmetria, Myoclonus, Difficulty walking, Bilateral tonic-clonic seizure |
OMIM:619191 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
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Increased circulating antibody level, Hepatomegaly, Lymphocytosis, Splenomegaly, Monocytosis, Aut... |
OMIM:614470 |
Charcot-Marie-Tooth Disease And Deafness |
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Decreased motor nerve conduction velocity, Steppage gait |
OMIM:118300 |
Alternating Hemiplegia Of Childhood 1 |
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Episodic quadriplegia, Episodic hemiplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Dyst... |
OMIM:104290 |
Dystonia 3, Torsion, X-Linked |
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Parkinsonism with favorable response to dopaminergic medication, Myoclonus, Chorea, Tremor, Torsi... |
OMIM:314250 |
Monomelic Amyotrophy |
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Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells |
ORPHA:65684 |
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination |
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Motor stereotypy, Difficulty walking, Spasticity, Seizure |
OMIM:617393 |
Epilepsy, Childhood Absence, Susceptibility To, 1 |
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EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:600131 |
Febrile Seizures, Familial, 8 |
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EEG with spike-wave complexes (>3.5 Hz), EEG with polyspike wave complexes, Febrile seizure (with... |
OMIM:607681 |
Primary Myelofibrosis |
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Hepatomegaly, Leukocytosis, Splenomegaly, Extramedullary hematopoiesis, Cachexia, Hepatosplenomeg... |
ORPHA:824 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
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Broad-based gait, Myelin tomacula, Decreased sensory nerve conduction velocity, Segmental periphe... |
OMIM:145900 |
Ataxia-Pancytopenia Syndrome |
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Ataxia, Dysmetria, Decreased nerve conduction velocity, Unsteady gait |
OMIM:159550 |
Cortical Malformations, Occipital |
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Bilateral tonic-clonic seizure, EEG abnormality |
OMIM:614115 |
Primary Lateral Sclerosis, Juvenile |
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Babinski sign, Spasticity of facial muscles, Spastic dysarthria, Abnormal upper motor neuron morp... |
OMIM:606353 |
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome |
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Gait disturbance, Decreased nerve conduction velocity |
ORPHA:2928 |
Burkitt Lymphoma |
|
Abdominal pain, Abnormality of the lymph nodes, Abnormality of the spleen, Abnormality of the pan... |
ORPHA:543 |
Pituitary Deficiency Due To Rathke Cleft Cysts |
|
Enlarged pituitary gland, Hypogonadotropic hypogonadism, Panhypopituitarism, Anterior hypopituita... |
ORPHA:91350 |
Immunodeficiency 75 |
|
Decreased proportion of class-switched memory B cells, Hepatosplenomegaly, Follicular hyperplasia... |
OMIM:619126 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
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Gait disturbance, Decreased distal sensory nerve action potential, Peripheral axonal neuropathy |
OMIM:618400 |
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome |
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Lymphopenia, Splenomegaly, Autoimmune thrombocytopenia, Hemolytic anemia, Hepatitis, Autoimmune h... |
ORPHA:444463 |
Kerion Celsi |
|
Lymphadenopathy, Recurrent cutaneous abscess formation |
ORPHA:499 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Optic atrophy, Lethargy, Seizure |
OMIM:274270 |
Jeavons Syndrome |
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EEG with focal spikes, EEG with photoparoxysmal response, Bilateral tonic-clonic seizure with gen... |
ORPHA:139431 |
Familial Focal Epilepsy With Variable Foci |
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Focal impaired awareness seizure, Deja vu aura, Focal aware seizure, EEG with focal epileptiform ... |
ORPHA:98820 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Spinocerebellar Ataxia 19 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Truncal ataxia, Cogwheel rigidity, Gait at... |
OMIM:607346 |
Episodic Ataxia Type 4 |
|
Ataxia, Abnormal head movements |
ORPHA:79136 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Facial palsy, Vocal cord paralysis |
OMIM:607641 |
Charcot-Marie-Tooth Disease Type 4A |
|
Chronic axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Motor co... |
ORPHA:99948 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
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Abnormal pyramidal sign, Spastic paraplegia, Bilateral tonic-clonic seizure, Choreoathetosis, Par... |
ORPHA:53583 |
Developmental And Epileptic Encephalopathy 13 |
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Clonic seizure, Focal hemiclonic seizure, EEG with spike-wave complexes, Tonic seizure, Bilateral... |
OMIM:614558 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
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Inability to walk, Opisthotonus, Tip-toe gait, Frequent falls, Optic disc pallor, Gait disturbanc... |
ORPHA:216866 |
Kimura Disease |
|
Eosinophilia, Follicular hyperplasia, Abnormal salivary gland morphology, Increased circulating I... |
ORPHA:482 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal T cell count, Decreased circulating IgA level, Failure to thrive, Lymphopenia, Decreased... |
ORPHA:331206 |
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation |
|
Crohn's disease, Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, H... |
OMIM:616100 |
Dystonia 23 |
|
Torticollis, Axial dystonia, Myoclonus, Head tremor, Gait disturbance, Writer's cramp, Limb dystonia |
OMIM:614860 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Hepatomegaly, Impaired memory B cell generation, Diarrhea, Absence of lymph node germinal center,... |
OMIM:308230 |
Roussy-Lévy Syndrome |
|
Limb ataxia, Decreased motor nerve conduction velocity, Difficulty walking, Gait ataxia, Unsteady... |
ORPHA:3115 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
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Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis, Tremor, Spasticity, Seizure, Dystonia |
OMIM:615924 |
Sagliker Syndrome |
|
Short stature, Elevated circulating parathyroid hormone level, Depression, Anxiety, Waddling gait |
ORPHA:300493 |
Epilepsy, Pyridoxine-Dependent |
|
Status epilepticus, Clonic seizure, Generalized myoclonic seizure, EEG with burst suppression, Bi... |
OMIM:266100 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Motor stereotypy, Broad-based gait, Optic atrophy, Tremor, Seizure, Spastic tetraparesis |
OMIM:619470 |
Wolfram-Like Syndrome |
|
Progressive cerebellar ataxia, Primary gonadal insufficiency, Depression, Severe postnatal growth... |
ORPHA:411590 |
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
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Ataxia, Bilateral tonic-clonic seizure |
OMIM:617709 |
Charcot-Marie-Tooth Disease Type 1B |
|
Peripheral axonal neuropathy, Decreased nerve conduction velocity, Peripheral dysmyelination |
ORPHA:101082 |
Juvenile Absence Epilepsy |
|
EEG with polyspike wave complexes, Myoclonus, Febrile seizure (within the age range of 3 months t... |
ORPHA:1941 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Hyperkinetic movements, Chorea, Athetosis, Involuntary movements, Spasticity, Seizure, Dystonia |
OMIM:617493 |
Hodgkin Lymphoma |
|
Hepatomegaly, Splenomegaly, Anorexia, Weight loss, Lymphadenopathy, Hyperhidrosis |
ORPHA:98293 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Status epilepticus, Hemiplegia, Generalized myoclonic seizure, EEG with irregular generalized spi... |
ORPHA:352596 |
Atypical Rett Syndrome |
|
Loss of ambulation, EEG abnormality, Inability to walk, Generalized myoclonic seizure, Hand aprax... |
ORPHA:3095 |
Spinocerebellar Ataxia Type 14 |
|
Progressive cerebellar ataxia, Limb ataxia, Myoclonus, Rigidity, Tremor, Somatic sensory dysfunct... |
ORPHA:98763 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Paraparesis, Progressive cerebellar ataxia, Babinski sign, Parkinsonism, Weakness due to upper mo... |
ORPHA:275872 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Motor stereotypy, Ataxia, Bradykinesia, Resting tremor, Intention tremor, Myoclonus, Nocturnal se... |
OMIM:619725 |
Primary Dystonia, Dyt13 Type |
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Torticollis, Motor stereotypy, Action tremor, Torsion dystonia, Craniofacial dystonia, Involuntar... |
ORPHA:98807 |
Combined Saposin Deficiency |
|
Myoclonus, Babinski sign, Hyperkinetic movements, Optic atrophy, Fasciculations, Generalized clon... |
OMIM:611721 |
Alpha-Heavy Chain Disease |
|
Hepatomegaly, Abdominal pain, Splenomegaly, Dysgammaglobulinemia, Anemia, Lymphadenopathy |
ORPHA:100025 |
Dystonia 6, Torsion |
|
Torticollis, Oromandibular dystonia, Lingual dystonia, Laryngeal dystonia, Myoclonus, Writer's cr... |
OMIM:602629 |
Mast Cell Sarcoma |
|
Hepatomegaly, Splenomegaly, Mediastinal lymphadenopathy, Mastocytosis, Weight loss, Lymphadenopathy |
ORPHA:66661 |
Hypothyroidism, Congenital, Nongoitrous, 7 |
|
Lethargy |
OMIM:618573 |
Developmental And Epileptic Encephalopathy 67 |
|
EEG abnormality, Generalized myoclonic seizure, Athetosis, Gait disturbance, Hypsarrhythmia, Gene... |
OMIM:618141 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Action tremor, Bradykinesia, Babinski sign, Parkinsonism, Rigidity, Falls, Gait disturbance, Bila... |
OMIM:300423 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Inability to walk, Paucity of anterior horn motor neurons, Abnormal anterior hor... |
OMIM:611890 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Hypogonadism, Postnatal growth retardation, Central hypothyroidism |
OMIM:616113 |
Immunodeficiency 7 |
|
Failure to thrive, Lymphadenopathy, Hypereosinophilia |
OMIM:615387 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
|
Failure to thrive, Diarrhea, B lymphocytopenia, Panhypogammaglobulinemia, T lymphocytopenia, Fail... |
OMIM:601457 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Ataxia, Myoclonus, Abnormal pyramidal sign, Tremor, Seizure |
OMIM:612016 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Gait disturbance, Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal ... |
ORPHA:139578 |
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of |
|
Facial palsy, Lethargy, Seizure |
OMIM:201470 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Status epilepticus, Ataxia, EEG abnormality, Generalized myoclonic seizure, Hyperkinetic movement... |
OMIM:271980 |
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absen... |
OMIM:619157 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Gait disturbance, Bilateral toni... |
ORPHA:100988 |
Laryngeal Neuroendocrine Tumor |
|
Adrenocorticotropic hormone excess, Anorexia, Chronic noninfectious lymphadenopathy, Weight loss,... |
ORPHA:100083 |
Autoimmune Lymphoproliferative Syndrome |
|
Neutropenia in presence of anti-neutropil antibodies, Increased circulating IgA level, Coombs-pos... |
OMIM:601859 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Atonic seizure, Focal impaired awareness seizure, Generalized myoclonic seizure, Abnormal... |
ORPHA:382 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Unilateral cryptorchidism, Anxiety, Aggressive behavior |
OMIM:618286 |
Familial Alzheimer-Like Prion Disease |
|
Depression, Anxiety, Emotional lability |
ORPHA:280397 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
EEG with spike-wave complexes (>3.5 Hz), Chorea, Bilateral tonic-clonic seizure, Generalized-onse... |
ORPHA:79137 |
Autosomal Dominant Spastic Paraplegia Type 17 |
|
Abnormal motor nerve conduction velocity, Spastic gait |
ORPHA:100998 |
Glycine Encephalopathy |
|
Myoclonus, Lethargy, Seizure |
OMIM:605899 |
Leukoencephalopathy With Vanishing White Matter |
|
Optic atrophy, Gait disturbance, Unsteady gait, Seizure, Lethargy |
OMIM:603896 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Motor stereotypy, Hypertonia, Ataxia, Bilateral tonic-clonic seizure with generalized onset, Myoc... |
OMIM:619092 |
Leishmaniasis |
|
Increased circulating antibody level, Hepatomegaly, Splenomegaly, Anorexia, Leukopenia, Abnormal ... |
ORPHA:507 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Neutropenia, Decreased circulating IgG level, Lymphocytosis, Hemophagocytosis, Splenomegaly, Hepa... |
OMIM:308240 |
Global Developmental Delay, Progressive Ataxia, And Elevated Glutamine |
|
Febrile seizure (within the age range of 3 months to 6 years), Progressive cerebellar ataxia |
OMIM:618412 |
Hypogonadotropic Hypogonadism 15 With Or Without Anosmia |
|
Small pituitary gland, Micropenis, Primary amenorrhea, Decreased testicular size, Cryptorchidism |
OMIM:614880 |
Autoimmune Lymphoproliferative Syndrome, Type Iii |
|
Increased circulating antibody level, Hepatomegaly, Absent isohemagglutinin level, Splenomegaly, ... |
OMIM:615559 |
Baker-Gordon Syndrome |
|
Motor stereotypy, Ataxia, EEG abnormality, Inability to walk, Hyperkinetic movements, Choreoathet... |
OMIM:618218 |
Charcot-Marie-Tooth Disease Type 4D |
|
Decreased amplitude of sensory action potentials, Decreased motor nerve conduction velocity, Inab... |
ORPHA:99950 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Paraparesis, Hypertonia, Ataxia, Atonic seizure, Myoclonus, Rigidity, Progressive extrapyramidal ... |
OMIM:612736 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus, Generalized non-motor (absence) seizure |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 24 |
|
Status epilepticus, Ataxia, Clonic seizure, Myoclonic seizure, Febrile seizure (within the age ra... |
OMIM:615871 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Neutrophilia, Abdominal pain, Abnormality of the lymph nodes, Diarrhea, Brain abscess, Abnormalit... |
ORPHA:54251 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Progressive cerebellar ataxia, Spastic paraparesis, Myoclonus, Babinski sign, Optic atrophy, Freq... |
ORPHA:254343 |
Salt And Pepper Developmental Regression Syndrome |
|
Status epilepticus, Myoclonus, Optic atrophy, Bilateral tonic-clonic seizure, Choreoathetosis, Mu... |
OMIM:609056 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Increased circulating IgA level, Neutrophilia, Leukocytosis, Abdominal pain, Diarrhea, Increased ... |
OMIM:617099 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Bilateral tonic-clonic seizure with generalized onset, Dysmetria, Myoclonus, Tremor, Lowe... |
OMIM:619028 |
Spinocerebellar Ataxia Type 1 |
|
Gait imbalance, Progressive cerebellar ataxia, Bradykinesia, Dysmetria, Dysdiadochokinesis, Optic... |
ORPHA:98755 |
Developmental And Epileptic Encephalopathy 103 |
|
Ataxia, Atonic seizure, Tonic status epilepticus, Focal impaired awareness seizure, Tonic seizure... |
OMIM:619913 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Distal sensory impairment, Tetraparesis, Spastic paraplegia, Gait distur... |
OMIM:263570 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Constipation, Abdominal distention, Abdominal pain, Cachexia, Malnutrition, Intest... |
OMIM:613662 |
N-Acetylglutamate Synthase Deficiency |
|
Seizure, Coma, Lethargy, Confusion |
OMIM:237310 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Myoclonus, Optic atrophy, Seizure, Lethargy |
OMIM:614299 |
Paroxysmal Nonkinesigenic Dyskinesia, 3, With Or Without Generalized Epilepsy |
|
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, EEG with spike-wave comp... |
OMIM:609446 |
Spastic Ataxia 2, Autosomal Recessive |
|
Dysmetria, Babinski sign, Head titubation, Frequent falls, Tremor, Gait ataxia, Spasticity, Fasci... |
OMIM:611302 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Clumsiness, Poor fine motor coordination, Dysmetria, EEG with generalized slow activity g... |
ORPHA:79263 |
Omenn Syndrome |
|
Failure to thrive, Hepatomegaly, Splenomegaly, Eosinophilia, Hypoplasia of the thymus, Severe B l... |
OMIM:603554 |
Atypical Juvenile Parkinsonism |
|
Akinesia, Inability to walk, Bradykinesia, Resting tremor, Myoclonus, Abnormal pyramidal sign, Ri... |
ORPHA:391411 |
Leukodystrophy, Hypomyelinating, 24 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Seizure |
OMIM:619851 |
Agammaglobulinemia 6, Autosomal Recessive |
|
Decreased circulating IgA level, Decreased circulating IgG level, Decreased circulating total IgM... |
OMIM:612692 |
Gaba-Transaminase Deficiency |
|
Lethargy, Seizure |
OMIM:613163 |
Galactose Epimerase Deficiency |
|
Hepatomegaly, Feeding difficulties, Splenomegaly, Nausea and vomiting, Weight loss, Jaundice |
ORPHA:79238 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Spastic diplegia, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Dystonia |
OMIM:619065 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Typical absence seizure, Ataxia, Inability to walk, Spasticity, Generalized myoclonic seizure, EE... |
ORPHA:168491 |
Cortical Dysplasia, Complex, With Other Brain Malformations 2 |
|
Motor stereotypy, Hypertonia, Clonic seizure, Spastic tetraplegia, Seizure |
OMIM:615282 |
Corticobasal Syndrome |
|
Progressive extrapyramidal muscular rigidity, Akinesia, Bradykinesia, Myoclonus, Oromotor apraxia... |
ORPHA:454887 |
New-Onset Refractory Status Epilepticus |
|
Status epilepticus, EEG with spike-wave complexes, Focal impaired awareness seizure, Focal aware ... |
ORPHA:363558 |
Foxg1 Syndrome |
|
Status epilepticus, Motor stereotypy, Inability to walk, Myoclonus, Infantile spasms, Hyperkineti... |
ORPHA:561854 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Splenomegaly, Abscess, Diarrhea, B lymphocytopenia, Intermittent thrombocytopenia, Recurrent apht... |
OMIM:150550 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity... |
OMIM:607831 |
Immunodeficiency 57 With Autoinflammation |
|
Failure to thrive, Gastritis, Diarrhea, B lymphocytopenia, T lymphocytopenia, Inflammation of the... |
OMIM:618108 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus, Seizure |
OMIM:217200 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 3 |
|
Bilateral tonic-clonic seizure, Seizure |
OMIM:608762 |
Immunodeficiency, Common Variable, 11 |
|
Failure to thrive, Crohn's disease, Decreased circulating IgG level, Mucoid diarrhea, Inflammatio... |
OMIM:615767 |
Pseudomyxoma Peritonei |
|
Constipation, Abdominal pain, Inflammation of the large intestine, Abnormality of the peritoneum,... |
ORPHA:26790 |
Developmental And Epileptic Encephalopathy 9 |
|
Status epilepticus, Atonic seizure, Generalized myoclonic seizure, Bilateral tonic-clonic seizure... |
OMIM:300088 |
Rosaï-Dorfman Disease |
|
Anemia, Lymphadenopathy, Dysgammaglobulinemia |
ORPHA:158014 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:614373 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Choreoathetosis, Decreased nerve conduction velocity |
OMIM:614932 |
Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Progressive cerebellar ataxia, Limb ataxia, Truncal ataxia, Progressive gait ataxia, Abnormal hea... |
ORPHA:247815 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Erratic myoclonus, Ataxia, Myoclonus, Epileptic spasm, EEG with burst suppression, Spastic tetrap... |
OMIM:619971 |
Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Atonic seizure, Focal hemiclonic seizure, Generalized myoclonic seizure, Generalized tonic seizur... |
OMIM:604403 |
Meningioma |
|
Ataxia, Impotence, Decreased circulating cortisol level, Neoplasm of the posterior pituitary, Abn... |
ORPHA:2495 |
Immunodeficiency 36 |
|
Decreased circulating IgA level, Lymphopenia, Decreased circulating IgG level, Enlarged tonsils, ... |
OMIM:616005 |
Multicentric Reticulohistiocytosis |
|
Histiocytosis, Cachexia |
ORPHA:139436 |
Lethal Infantile Mitochondrial Myopathy |
|
Lethargy, Seizure |
ORPHA:254857 |
Cdkl5-Deficiency Disorder |
|
Generalized tonic seizure, Infantile spasms, Stereotypical hand wringing, Gait disturbance, Diffi... |
ORPHA:505652 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Decreased nerve conduction velocity, Abnormal autonomic nervous system p... |
OMIM:252320 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Bradykinesia, Dysmetria, Limb ataxia, Intention tremor, Myoclonus, Posi... |
OMIM:607136 |
Secretory Component Deficiency |
|
Intermittent diarrhea, Secretory IgA deficiency |
OMIM:269650 |
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Bilateral tonic-clonic seizure, EEG abnormality, Focal impaired awareness seizure |
OMIM:610003 |
Leukodystrophy, Hypomyelinating, 2 |
|
Ataxia, Focal impaired awareness seizure, Focal aware seizure, Decreased motor nerve conduction v... |
OMIM:608804 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
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Hypertonia, Ataxia, Clumsiness, Decreased motor nerve conduction velocity, Babinski sign, Abnorma... |
OMIM:616688 |
Restless Legs Syndrome, Susceptibility To, 1 |
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Paresthesia, Myoclonus |
OMIM:102300 |
Alpers-Huttenlocher Syndrome |
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Paraparesis, Ataxia, Spastic paraparesis, Myoclonus, Progressive spasticity, Bilateral tonic-clon... |
ORPHA:726 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
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Dysmetria, Axonal degeneration, Tip-toe gait, Onion bulb formation, Decreased motor nerve conduct... |
OMIM:302800 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Hepatomegaly, Gastrointestinal hemorrhage, Lymphadenopathy, Splenomegaly, Follicular hyperplasia,... |
OMIM:603909 |
Coproporphyria, Hereditary |
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Constipation, Hepatomegaly, Abdominal pain, Splenomegaly, Diarrhea, Vomiting, Jaundice |
OMIM:121300 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Status epilepticus, Inability to walk, Focal impaired awareness seizure, Generalized myoclonic se... |
ORPHA:330050 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
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Decreased motor nerve conduction velocity, Steppage gait, Facial palsy |
OMIM:607684 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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