Cervical Vertebral Dysplasia |
|
Anterior atlanto-occipital dislocation, Cervical vertebral facet hypoplasia, Cervical vertebral d... |
OMIM:118005 |
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome |
|
Anophthalmia, Microphthalmia |
ORPHA:85275 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Clusters of axonal regeneration, Decreased number of peripheral myelinated nerve fibers, Tremor, ... |
OMIM:607734 |
Obsolete: Polyradiculoneuropathy Associated With Igg/Iga/Igm Monoclonal Gammopathy Without Known Antibodies |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Symmetrical progressive periphe... |
ORPHA:208981 |
Optic Atrophy 2 |
|
Tremor, Babinski sign, Optic atrophy, Dysdiadochokinesis |
OMIM:311050 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Hypertrophic nerve changes, Upper limb postural tremor, Decreased number of peripheral myelinated... |
OMIM:180800 |
Microphthalmia, Isolated 1 |
|
Anophthalmia, Microphthalmia |
OMIM:251600 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Athetosis, Gliosis, Axonal loss, Paralysis, Dystonia |
OMIM:300857 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Hand tremor, Progressive spastic paraplegia, Abnormal myelination, Spastic gait, Babinski sign, L... |
ORPHA:401840 |
Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, CNS hypomyelination, Sudanophilic leukodystrophy, Ataxia, Abnormal CNS m... |
OMIM:312080 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Ataxia, Abnormality of extrapyramidal motor fu... |
OMIM:617672 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Scoliosis, Butterfly vertebrae, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis |
OMIM:616566 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Basal lamina onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Decrea... |
OMIM:614895 |
Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
Episodic Ataxia, Type 1 |
|
Tremor, Slurred speech, Spastic gait, Babinski sign, Incoordination, Episodic ataxia |
OMIM:160120 |
Peroxisome Biogenesis Disorder 8B |
|
Spasticity, Frequent falls, Ataxia, Clonus, Ankle clonus, Limb tremor, Rigidity, Spastic parapare... |
OMIM:614877 |
Spastic Paraplegia With Neuropathy And Poikiloderma |
|
Demyelinating motor neuropathy, Demyelinating sensory neuropathy, Spastic paraplegia, Onion bulb ... |
OMIM:182815 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Hemiplegia, Abnormality of extrapyramidal motor func... |
OMIM:614561 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Segmental peripheral demyelination, Decreased number of peripheral myelinated nerve fibers, Perip... |
OMIM:606482 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Ataxia |
OMIM:613227 |
Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination, Dystonia |
OMIM:250850 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Apraxia, Abnormal upper motor neuron morphology, Peripheral demyelination, Gliosis, A... |
OMIM:221770 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Vocal cord paralysis, Segmental peripheral demyelination/remyelination |
OMIM:162500 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Spina Bifida-Hypospadias Syndrome |
|
Spinal dysraphism, Spina bifida |
ORPHA:3176 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Decreased number of peripheral myelinated nerve fibers, Tetraplegia, Gliosis, Axonal... |
OMIM:604484 |
Microphthalmia, Isolated, With Coloboma 10 |
|
Anophthalmia, Microphthalmia |
OMIM:616428 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G |
|
Frequent falls, Hand tremor, Peripheral demyelination, Babinski sign, Onion bulb formation |
OMIM:618279 |
Null Syndrome |
|
CNS hypomyelination, Ataxia, Progressive spastic paraplegia, Demyelinating peripheral neuropathy,... |
ORPHA:280234 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10 |
|
Neural tube defect |
OMIM:615041 |
Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Clonus, Titubation, Chorea, Spa... |
ORPHA:397946 |
Paraparetic Variant Of Guillain-Barré Syndrome |
|
Paraparesis, Peripheral demyelination, Peripheral axonal neuropathy |
ORPHA:231445 |
Microphthalmia, Isolated, With Coloboma 5 |
|
Anophthalmia, Bilateral microphthalmos, Microphthalmia |
OMIM:611638 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Ataxia, Peripheral axonal neuropathy, Tremor, Babinski sign |
OMIM:611105 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Spasticity, Peripheral axonal atrophy, Decreased number of peripheral myelinated nerve fibers, Tr... |
OMIM:609260 |
Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Tremor, Vocal cord paralysis, Vocal cord paresis |
OMIM:158580 |
Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Paraplegia, Myelitis |
ORPHA:71211 |
Neural Tube Defects, Folate-Sensitive |
|
Spinal dysraphism |
OMIM:601634 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C |
|
Ataxia, Hypertrophic nerve changes, Gait ataxia, Onion bulb formation, Segmental peripheral demye... |
OMIM:601098 |
Vertebral Hypoplasia With Lumbar Kyphosis |
|
Lumbar kyphosis, Vertebral hypoplasia |
OMIM:192900 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Peripheral demyelination, Dystonia, Axonal loss, Ataxia |
OMIM:616684 |
Acute Inflammatory Demyelinating Polyradiculoneuropathy |
|
Gait ataxia, Acute demyelinating polyneuropathy, Onion bulb formation |
ORPHA:98916 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal deg... |
OMIM:607706 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination, Onion bulb formation, Segme... |
OMIM:606483 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Gait ataxia, Slurred speech |
ORPHA:401953 |
Neuronopathy, Distal Hereditary Motor, Type Viib |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Parkinsonism, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Paralysis |
OMIM:105500 |
Mucolipidosis Type Iii |
|
Craniofacial hyperostosis, Reduced bone mineral density, Inguinal hernia, Joint stiffness, Hypopl... |
ORPHA:577 |
Anencephaly 1 |
|
Anencephaly, Spina bifida |
OMIM:206500 |
Spinocerebellar Ataxia Type 43 |
|
Limb ataxia, Progressive cerebellar ataxia, Cogwheel rigidity, Peripheral axonal neuropathy, Decr... |
ORPHA:497764 |
Progressive Multifocal Leukoencephalopathy |
|
Parkinsonism, Weakness due to upper motor neuron dysfunction, Hemiplegia/hemiparesis, CNS demyeli... |
ORPHA:217260 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Hypertrophic nerve changes, Myelin tomacula, Decreased number of peripheral myelinated nerve fibe... |
OMIM:145900 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Basal lamina onion bulb formation, CNS hypomyelination, Hypertrophic nerve changes, Segmental per... |
OMIM:214400 |
Winchester Syndrome |
|
Generalized osteoporosis, Broad metacarpals, Carpal osteolysis, Corneal opacity, Osteolysis invol... |
OMIM:277950 |
Primary Dystonia, Dyt27 Type |
|
Limb dystonia, Axial dystonia, Upper limb postural tremor, Focal dystonia, Writer's cramp, Oroman... |
ORPHA:464440 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral hypomyelination, Axonal ... |
OMIM:605285 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Frequent falls, Symmetric peripheral demyelination, Tremor, Peripheral demyelination, Diffuse per... |
ORPHA:206594 |
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome |
|
Tetraparesis, Clumsiness, Decreased number of peripheral myelinated nerve fibers, Slurred speech,... |
ORPHA:2386 |
Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
CNS demyelination, Peripheral demyelination, Gait ataxia, Spastic tetraparesis, Babinski sign |
OMIM:249900 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Frequent falls, Clusters of axonal regeneration, Decreased number of small peripheral myelinated ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Peripheral de... |
OMIM:118200 |
Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Reduced bone mineral density, Hip dysplasia, Abnormal metaphysis morphology, Abnormal metacarpal ... |
ORPHA:2370 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Dystonia 27 |
|
Limb dystonia, Torticollis, Postural tremor, Writer's cramp, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Peripheral axonal atrophy, Peripheral axonal neuropathy, Decreased number of peripheral myelinate... |
OMIM:118210 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Head tremor, Gait ataxia, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spastic Paraplegia 55, Autosomal Recessive |
|
Knee clonus, Peripheral axonal neuropathy, Spastic paraplegia, Onion bulb formation, Babinski sig... |
OMIM:615035 |
Pseudohypoaldosteronism, Type Iib |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614491 |
Pseudohypoaldosteronism, Type Iid |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614495 |
Sandhoff Disease, Adult Form |
|
Spasticity, Sensory axonal neuropathy, Focal dystonia, Tremor, Gait ataxia, Fasciculations, Dystonia |
ORPHA:309169 |
Krabbe Disease |
|
Progressive spasticity, CNS demyelination, Failure to thrive, Peripheral demyelination, Optic atr... |
OMIM:245200 |
Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
Webb-Dattani Syndrome |
|
Hydronephrosis, Cryptorchidism, Hip dislocation, Hypernatremia, Neurogenic bladder, Diabetes insi... |
OMIM:615926 |
Microphthalmia, Syndromic 16 |
|
Anophthalmia, Microphthalmia |
OMIM:611038 |
Spinocerebellar Ataxia 43 |
|
Limb ataxia, Ataxia, Rigidity, Tremor, Gait ataxia |
OMIM:617018 |
Tremor, Hereditary Essential, 6 |
|
Head tremor, Postural tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Intention tremor, Tongue tremor, Postural tremor, Kinetic tremor |
OMIM:616736 |
Pseudohypoaldosteronism, Type Iie |
|
Hyperchloremia, Pseudohypoaldosteronism, Hyperkalemia |
OMIM:614496 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Decreased number of peripheral myelinated nerve fibers, Myelin outfol... |
OMIM:118220 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Basal lamina onion bulb formation, Abnormal cranial nerve morphology, Segmental peripheral demyel... |
OMIM:601596 |
Pseudohypoaldosteronism, Type Iic |
|
Hyperchloremia, Pseudohypoaldosteronism, Decreased circulating renin level, Hyperkalemia |
OMIM:614492 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic atrophy, Optic disc pallor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Primary Dystonia, Dyt13 Type |
|
Limb dystonia, Torticollis, Postural tremor, Generalized dystonia, Focal dystonia, Action tremor,... |
ORPHA:98807 |
Glut1 Deficiency Syndrome 1 |
|
Spasticity, Hemiparesis, Ataxia, Myoclonus, Paralysis, Babinski sign, Choreoathetosis, Paroxysmal... |
OMIM:606777 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Diabetes insipidus, Failure to thrive, Polyuria |
OMIM:304800 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Cervical C5/C6 vertebrae fusion, Cervical C3/C4 vertebral fusion, Thoracic scoliosis |
OMIM:613702 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Nephrogenic diabetes insipidus, Failure to thrive, Polyuria |
OMIM:125800 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Spinocerebellar Ataxia 20 |
|
Abnormal pyramidal sign, Limb ataxia, Postural tremor, Palatal tremor, Gait ataxia, Action tremor |
OMIM:608687 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Sensory axonal neuropathy, Tremor, Myoclonus, Babinski sign, Dysmetria |
OMIM:612437 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Torticollis, Ataxia, Peripheral axonal neuro... |
OMIM:607317 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Dominant Intermediate F |
|
Peripheral demyelination, Axonal regeneration, Onion bulb formation |
OMIM:615185 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Failure to thrive |
OMIM:612740 |
Lethal Congenital Contracture Syndrome 8 |
|
Peripheral hypomyelination, Vocal cord paralysis, Facial diplegia |
OMIM:616287 |
Spinocerebellar Ataxia 38 |
|
Limb ataxia, Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Myoclonus |
OMIM:615957 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Ataxia, Chorea, Peripheral demyelination, Peripheral axonal degeneration, Peripheral hypomyelinat... |
OMIM:604168 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Limb dystonia, Parkinsonism with favorable response to dopaminergic medication, Abn... |
OMIM:605407 |
Dystonia 3, Torsion, X-Linked |
|
Parkinsonism with favorable response to dopaminergic medication, Chorea, Tremor, Myoclonus, Torsi... |
OMIM:314250 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Hemiparesis, Ataxia, Apraxia, Chorea, Myoclonus, Paralysis, Hypertonia, Extrapyramida... |
ORPHA:71277 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Frequent falls, Peripheral hypomyelination, Axonal loss, Onion bulb formation |
OMIM:611228 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity, Hepatomegaly, Large for gestational age |
ORPHA:2432 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Ataxia, Pseudobulbar paralysis, Symmetric peripheral demyelination, Gliosis, Babinski... |
OMIM:169500 |
Glucose-Galactose Malabsorption |
|
Renal insufficiency, Failure to thrive, Nephrolithiasis, Hematuria, Hypernatremia, Hypercalcemia,... |
ORPHA:35710 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Substantia nigra gliosis, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Dystonia, Ataxia, Spinocerebellar tract degeneration, Tremor, Leukodystrophy, Lower limb spastici... |
OMIM:617916 |
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To |
|
Jaundice, Hypoargininemia, Hyperammonemia, Hyperglutaminemia, Abnormal urine sebacic acid concent... |
OMIM:615751 |
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5 |
|
Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:311070 |
Charcot-Marie-Tooth Disease, Recessive Intermediate D |
|
Onion bulb formation |
OMIM:616039 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Abnormal cranial nerve morphology, Peripheral hypomyelination, Onion bulb formation |
OMIM:605253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2I |
|
Axonal degeneration/regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607677 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, CNS hypomyelination, Ataxia, Failure to thrive, Tremor, Myoclonus, Leukodystrophy |
OMIM:616494 |
Charcot-Marie-Tooth Disease, Axonal, Type 2H |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607731 |
Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
Spinocerebellar Ataxia Type 25 |
|
Progressive cerebellar ataxia, Spastic dysarthria, Decreased number of large peripheral myelinate... |
ORPHA:101111 |
Fryns Microphthalmia Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:600776 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Dystonia, Parkinsonism with favorable response to dopaminergic medication, Abnormal... |
OMIM:260300 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral demyelination, Onion bul... |
OMIM:608340 |
Charcot-Marie-Tooth Disease, Axonal, Type 2L |
|
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy |
OMIM:608673 |
Nephrogenic Diabetes Insipidus |
|
Enuresis nocturna, Hypernatremia, Hydroureter, Renal insufficiency, Functional abnormality of the... |
ORPHA:223 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal opacity, Corneal dystrophy |
OMIM:300779 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Hyperkinetic movements, Torticollis, Ataxia, Chorea, Tremor, Dystonia |
OMIM:618425 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Frequent falls, Hand tremor, Paraparesis, Decreased number of peripheral myelinated nerve fibers,... |
OMIM:302800 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Acute Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Hemolytic anemia, Prolonged neonatal jaundice, Abnormal conj... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hypernatremia, Conjunctival icterus, Hemolytic anemia, Prolonged neonatal jaundice, Abnormal conj... |
ORPHA:529808 |
Neuronopathy, Distal Hereditary Motor, Type Iib |
|
Paralysis |
OMIM:608634 |
Myoclonus, Familial, 1 |
|
Frequent falls, Ataxia, Action myoclonus, Action tremor, Myoclonus |
OMIM:614937 |
Spinocerebellar Ataxia Type 20 |
|
Abnormal pyramidal sign, Kinetic tremor, Isometric tremor, Ataxia, Upper limb postural tremor, Ga... |
ORPHA:101110 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Parkinsonism, Ataxia, Rigidity, Chorea, Tremor, Myoclonus, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Ankle clonus, Dysdiadochokinesis, Tremor, Gait ataxia, Intention tremor, Dysmetria, Spast... |
OMIM:616053 |
Charcot-Marie-Tooth Disease, Type 4H |
|
Peripheral hypomyelination, Onion bulb formation, Decreased number of peripheral myelinated nerve... |
OMIM:609311 |
Adult Krabbe Disease |
|
Spasticity, Tetraparesis, Frequent falls, Upper motor neuron dysfunction, Ataxia, Clumsiness, Hof... |
ORPHA:206448 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Neuronopathy, Distal Hereditary Motor, Type Iia |
|
Paralysis |
OMIM:158590 |
Spinocerebellar Ataxia 18 |
|
Sensory axonal neuropathy, Progressive gait ataxia, Dysdiadochokinesis, Tremor, Babinski sign, Dy... |
OMIM:607458 |
Spinocerebellar Ataxia 37 |
|
Frequent falls, Ataxia, Tremor |
OMIM:615945 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Dystonia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Spastic ataxia, Myoclonus, ... |
OMIM:614487 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Peripheral demyelination, Optic atrophy, Hyperintensity of MRI T2 signal of the spinal cord, Ataxia |
OMIM:609033 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Peripheral demyelination, Segmental peripheral demyelination/remyelination |
ORPHA:2932 |
Acrodysplasia Scoliosis |
|
Scoliosis, Spina bifida occulta, Vertebral segmentation defect |
ORPHA:2956 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Microphthalmia, Isolated 8 |
|
True anophthalmia, Anophthalmia, Microphthalmia, Optic nerve hypoplasia |
OMIM:615113 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Tetraparesis, Parkinsonism, Paraparesis, Apraxia, Abnormal lower motor neuron morphology, Amyotro... |
OMIM:105550 |
Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Parkinsonism, Cogwheel rigidity, Bradykinesia, Resting tremor, Babinski sign |
OMIM:300911 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Frequent falls, Hyperkinetic movements, Chorea, Tremor, Hemiballismus |
OMIM:616921 |
Dystonia, Dopa-Responsive |
|
Spasticity, Torticollis, Cogwheel rigidity, Parkinsonism with favorable response to dopaminergic ... |
OMIM:128230 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Frequent falls, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Clumsiness, Rig... |
ORPHA:216873 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Peripheral axonal atrophy, Onion bulb formation, Axonal degeneration/regeneration, Decreased numb... |
OMIM:605588 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Paralysis, Peripheral axonal neuropathy |
OMIM:613710 |
Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Fasciculations, Peripheral axonal atrophy, Axonal degeneration/regeneration, Decreased number of ... |
OMIM:600882 |
Charcot-Marie-Tooth Disease, Axonal, Type 2J |
|
Peripheral demyelination, Axonal degeneration/regeneration |
OMIM:607736 |
Microphthalmia, Syndromic 12 |
|
Anophthalmia, Microphthalmia |
OMIM:615524 |
Bilateral Striopallidodentate Calcinosis |
|
Thrombocytopenia, Hepatomegaly, Corneal opacity, Abnormality of the liver |
ORPHA:1980 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Onion bulb formation, Decreased number of peripheral myelinated nerve fibers, Segmental periphera... |
OMIM:604563 |
Neuroleptic Malignant Syndrome |
|
Proteinuria, Acute kidney injury, Leukocytosis, Hyperuricemia, Urinary incontinence, Hyperphospha... |
ORPHA:94093 |
Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:200100 |
Hurler-Scheie Syndrome |
|
Cardiomyopathy, Abnormal heart valve morphology, Hepatomegaly, Abnormality of the tonsils, Cornea... |
ORPHA:93476 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Ataxia, Ankle clonus, Decreased number of peripheral myelinated nerve fibers, Spastic paraplegia,... |
OMIM:604360 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Dystonia, Myoclonus, Failure to thrive |
OMIM:619651 |
Mucous Membrane Pemphigoid |
|
Atypical scarring of skin, Corneal opacity |
ORPHA:46486 |
Anencephaly 2 |
|
Anophthalmia |
OMIM:619452 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Spasticity, Clonus, Progressive spastic paraplegia, Sensory axonal neuropathy, Spastic paraplegia... |
ORPHA:139578 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Reduced circulating growth hormone concentration, Pulmonic stenosis, Failure to thrive, Hypernatr... |
OMIM:615508 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Adrenal Hypoplasia, Congenital |
|
Delayed puberty, Adrenal hypoplasia, Cryptorchidism, Decreased circulating cortisol level, Decrea... |
OMIM:300200 |
Pyruvate Carboxylase Deficiency |
|
Hyperglutamatemia, Hyperammonemia, Hyperalaninemia, Hepatomegaly, Elevated plasma citrulline, Fai... |
ORPHA:3008 |
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
Cataract-Microcornea Syndrome |
|
Cataract, Iris coloboma, Corneal dystrophy, Corneal opacity, Microcornea |
ORPHA:1377 |
Mirage Syndrome |
|
Adrenal hypoplasia, Radial club hand, Cryptorchidism, Decreased testicular size, Leukopenia, Micr... |
OMIM:617053 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Decreased number of large peripheral myelinated nerve fibers, Optic atrophy, Optic disc pallor, P... |
OMIM:617087 |
Developmental And Epileptic Encephalopathy 14 |
|
Spasticity, Clonus, Tetraplegia, Gliosis, Delayed CNS myelination |
OMIM:614959 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Frequent falls, Dystonia, Myoclonus, Tremor |
OMIM:619647 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Alpha-Mannosidosis |
|
Cataract, Craniofacial hyperostosis, Inguinal hernia, Hip dysplasia, Hypoplastic inferior ilia, H... |
ORPHA:61 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Metachromatic Leukodystrophy |
|
Spastic tetraplegia, Ataxia, Chorea, Peripheral demyelination, Tetraplegia, Babinski sign, Optic ... |
OMIM:250100 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level, Hyponatremia, Failure... |
OMIM:610600 |
Sialidosis Type 2 |
|
Inguinal hernia, Umbilical hernia, Osteoporosis, Hepatomegaly, Nephropathy, Corneal opacity, Flex... |
ORPHA:87876 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
|
Increased circulating ACTH level, Cryptorchidism, Abnormal circulating renin, Abnormal circulatin... |
OMIM:614736 |
Leukodystrophy, Hypomyelinating, 5 |
|
Abnormal pyramidal sign, CNS hypomyelination, Truncal titubation, Intention tremor, Babinski sign... |
OMIM:610532 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K |
|
Peripheral demyelination |
ORPHA:99944 |
Ophthalmomandibulomelic Dysplasia |
|
Camptodactyly of finger, Abnormality of bone mineral density, Megalocornea, Synostosis of carpal ... |
ORPHA:2741 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Peripheral demyelination, Small for gestational age |
OMIM:616733 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Tetraparesis, Parkinsonism, Weakness due to upper motor neuron dysfunction, Progressive cerebella... |
ORPHA:275872 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Proteinuria, Metatarsal osteolysis, Stage 5 chronic kidney disease, Metacarpal osteolysis, Renal ... |
OMIM:166300 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyperaldosteronism, Failure to thrive, Hyperkalemia, Hyperactive renin-angiotensin system, Renal ... |
OMIM:264350 |
Neuropathy, Congenital Hypomyelinating, 2 |
|
Onion bulb formation, Facial diplegia, Decreased number of peripheral myelinated nerve fibers |
OMIM:618184 |
Giant Axonal Neuropathy 2, Autosomal Dominant |
|
Peripheral axonal neuropathy, Onion bulb formation |
OMIM:610100 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Frequent falls, Hemiballismus, Tremor, Chorea |
ORPHA:494526 |
Spinocerebellar Ataxia 23 |
|
Limb ataxia, CNS demyelination, Tremor, Gait ataxia, Babinski sign, Dysmetria |
OMIM:610245 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Clumsiness, Abnormality of extrapyramidal motor func... |
ORPHA:79262 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hypochloremia, Increased circulating renin level, Hypokalemia, Medullary nephrocalcinosis, Hyperc... |
OMIM:300971 |
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Cryptorchidism, Micropenis, Corneal opacity, Dilated cardiomyopathy, Hypertrophic cardiomyopathy,... |
OMIM:618815 |
Spinocerebellar Ataxia Type 26 |
|
Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Paralysis, Fasciculations, B... |
ORPHA:101112 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypernatriuria, Decreased glomerular filtrat... |
OMIM:613090 |
Charcot-Marie-Tooth Disease Type 4G |
|
Peripheral demyelination, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy |
ORPHA:99953 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Peripheral axonal neuropathy |
OMIM:619099 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Frequent falls, Torticollis, Ankle clonus, Head titubation, Spastic ataxia, Tremor, G... |
OMIM:611302 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Nephrocalcinosis, Hypokalemia, Hypocalcemia, Dilated cardiomyopathy, Polyuria, Hyponatremia, Hypo... |
OMIM:620152 |
Wolcott-Rallison Syndrome |
|
Exocrine pancreatic insufficiency, Jaundice, Hyperammonemia, Neonatal insulin-dependent diabetes ... |
ORPHA:1667 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperaldosteronism, Nephrocalcinosis, Hyperchloriduria, Increased urinary potassium, Hyperparathy... |
OMIM:601678 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Facial palsy, Myelin outfoldings, Irregular myelin loops |
OMIM:601382 |
Corticosterone Methyloxidase Type I Deficiency |
|
Increased circulating renin level, Decreased circulating aldosterone level, Failure to thrive, Hy... |
OMIM:203400 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Hyperaldosteronism, Hypochloremia, Increased circulating renin level, Hypokalemia, Failure to thr... |
OMIM:214700 |
Pituitary Deficiency Due To Empty Sella Turcica Syndrome |
|
Hypopituitarism, Increased circulating prolactin concentration, Decreased response to growth horm... |
ORPHA:91354 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Frequent falls, Hand tremor, Sensory axonal neuropathy, Postural tremor, Vocal cord paralysis, Ab... |
ORPHA:99947 |
Hypoadrenocorticism, Familial |
|
Adrenal insufficiency, Adrenal hypoplasia, Hyponatremia, Hyperkalemia |
OMIM:240200 |
Cystinosis |
|
Rickets, Delayed puberty, Proteinuria, Hypophosphatemia, Renal insufficiency, Nephrogenic diabete... |
ORPHA:213 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... |
OMIM:615830 |
Osteoporosis-Pseudoglioma Syndrome |
|
Metaphyseal widening, Osteoporosis, Isosexual precocious puberty, Abnormal femoral neck/head morp... |
ORPHA:2788 |
Hyperchlorhidrosis, Isolated |
|
Hyperkalemia, Hyponatremia, Failure to thrive |
OMIM:143860 |
Late-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... |
ORPHA:556037 |
Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Recurrent tonsillitis, Increased circulating renin level, Abnormal circulating aldosterone, Failu... |
ORPHA:171876 |
Spinocerebellar Ataxia Type 12 |
|
Abnormal pyramidal sign, Parkinsonism, Ataxia, Postural tremor, Bradykinesia, Intention tremor, L... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Myoclonus, Ataxia |
OMIM:616187 |
Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Central posterior corneal opacity, Recurrent corneal erosions, C... |
ORPHA:98964 |
Central Diabetes Insipidus |
|
Diabetes insipidus, Failure to thrive, Nocturia, Hyponatremia, Weight loss |
ORPHA:178029 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Abnormal pyramidal sign, Ataxia, Tremor, Myoclonus, Dystonia |
OMIM:615924 |
Spinocerebellar Ataxia 17 |
|
Parkinsonism, Limb ataxia, Ataxia, Apraxia, Rigidity, Chorea, Bradykinesia, Intention tremor, Gai... |
OMIM:607136 |
Huntington Disease |
|
Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis |
OMIM:143100 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Myoclonus, Writer's cramp |
OMIM:159900 |
Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Limb ataxia, Ataxia, Tremor, Gait ataxia, Gliosis, Incoordination, Dysmetria |
OMIM:213200 |
Spinocerebellar Ataxia 48 |
|
Parkinsonism, Ataxia, Cachexia, Chorea, Tremor, Gait ataxia, Babinski sign, Dystonia, Dysmetria |
OMIM:618093 |
Congenital Rubella Syndrome |
|
Cataract, Jaundice, Abnormal metaphysis morphology, Ventricular septal defect, Atrial septal defe... |
ORPHA:290 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Parkinsonism with favorable response to dopaminergic medication, Postural tremor, Rigidity, Tremo... |
ORPHA:314632 |
Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Small for gestational age, Ataxia, Tremor |
OMIM:278780 |
Oculocerebrocutaneous Syndrome |
|
Anophthalmia, Microphthalmia |
OMIM:164180 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hypoproteinemia, Increased LDL cholesterol concentration, Jaundice, Leukopenia, Hemophagocytosis,... |
OMIM:267700 |
Frontal Encephalocele |
|
Encephalocele, Spina bifida, Hydrocephalus |
ORPHA:1931 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Hyperaldosteronism, Increased circulating renin level, Failure to thrive, Hyperkalemia, Hyperacti... |
OMIM:177735 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Limb ataxia, Oculomotor apraxia, Dystonia, Ataxia, Chorea, Decreased number of large peripheral m... |
OMIM:208920 |
Congenital Isolated Acth Deficiency |
|
Adrenal hypoplasia, Adrenocorticotropin deficient adrenal insufficiency, Prolonged neonatal jaund... |
ORPHA:199296 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Dysm... |
OMIM:618387 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Ankle clonus, Tremor, Babinski sign, Truncal ataxia |
OMIM:615768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Frequent falls, Facial palsy, Onion bulb formation |
OMIM:607684 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Parkinsonism, Ankle clonus, Scissor gait, Tremor, Bradykinesia, Oromandibular dystoni... |
ORPHA:521406 |
Immunodeficiency 82 With Systemic Inflammation |
|
Anemia, Reduced natural killer cell count, Osteomalacia, Arthritis, T lymphocytopenia, Follicular... |
OMIM:619381 |
Early-Onset Familial Hypoaldosteronism |
|
Elevated serum 11-deoxycortisol, Increased circulating renin level, Decreased circulating aldoste... |
ORPHA:556030 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Limb ataxia, Dystonia, Spastic dysarthria, Spastic ataxia, Tremor, Spastic paraplegia, Spastic ga... |
ORPHA:251282 |
Glutaric Acidemia I |
|
Delayed myelination, Spastic diplegia, Rigidity, Failure to thrive, Symmetrical progressive perip... |
OMIM:231670 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Diffuse axonal swelling, Clonus, Atrophy of the spinal cord, Abnormal lower motor neuron morpholo... |
OMIM:602433 |
Late-Onset Isolated Acth Deficiency |
|
Graves disease, Hypercalcemia, Adrenocorticotropin deficient adrenal insufficiency, Hyperuricemia... |
ORPHA:199299 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia 7 |
|
Spasticity, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Chorea, ... |
OMIM:164500 |
Dystonia 28, Childhood-Onset |
|
Spasticity, Torticollis, Retrocollis, Tremor, Oromandibular dystonia, Laryngeal dystonia, Myoclon... |
OMIM:617284 |
Hartsfield Syndrome |
|
Craniosynostosis, Cryptorchidism, Micropenis, Diabetes insipidus, Ectrodactyly, Syndactyly, Gonad... |
OMIM:615465 |
Renal Hypoplasia, Bilateral |
|
Microscopic hematuria, Proteinuria, Cryptorchidism, Small for gestational age, Glycosuria, Chroni... |
ORPHA:97362 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Hyperuricemia, Chronic kidney disease, Leukopenia, Diabetes mellitus, Anemia, Increa... |
OMIM:613845 |
Machado-Joseph Disease Type 3 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... |
ORPHA:276244 |
Obsolete: Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Dorsocervical fat pad, Diabetes mellitus, Increased circulating cortisol lev... |
ORPHA:189439 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Cataract, Hydronephrosis, Congenital hip dislocation, Nephrocalcinosis, Calcinosis, Renal artery ... |
OMIM:617913 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Spasticity, Ataxia, Tremor, Delayed CNS myelination, Optic atrophy |
OMIM:300983 |
Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Cerebral hypomyelination, Oculomotor apraxia, Ataxia, Choreoathetosis, Rigidity, Trem... |
OMIM:612438 |
Alg8-Cdg |
|
Cataract, Camptodactyly, Small for gestational age, Abnormality of subcutaneous fat tissue, Anemi... |
ORPHA:79325 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Frequent falls, Abnormal pyramidal sign, Limb myoclonus, Parkinsonism with favorable response to ... |
ORPHA:240103 |
Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Facial diplegia |
OMIM:616286 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Delayed CNS myelination, Eyelid myoclonus, Ataxia |
OMIM:616421 |
Gracile Bone Dysplasia |
|
Hypoplastic spleen, Micropenis, Asplenia, Thin ribs, Slender long bone, Failure to thrive, Flared... |
OMIM:602361 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Frequent falls, Tremor, Facial palsy, Myoclonus, Tongue fasciculations, Degeneration of anterior ... |
OMIM:159950 |
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:607080 |
Hearing Loss-Familial Salivary Gland Insensitivity To Aldosterone Syndrome |
|
Hyponatremia, Abnormal salivary gland morphology |
ORPHA:3225 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Abnormal pyramidal sign, Parkinsonism, Rigidity, Chorea, Dysdiadochokinesis, Bradykinesia, Tremor... |
OMIM:213600 |
Cystinosis, Nephropathic |
|
Rickets, Delayed puberty, Diabetes mellitus, Hepatomegaly, Hypokalemia, Reduced blood urea nitrog... |
OMIM:219800 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Primary... |
ORPHA:289548 |
Legionnaires Disease |
|
Myocarditis, Proteinuria, Jaundice, Endocarditis, Pancreatitis, Renal insufficiency, Bone marrow ... |
ORPHA:549 |
Corticobasal Syndrome |
|
Limb myoclonus, Parkinsonism, Limb dystonia, Oromotor apraxia, Speech apraxia, Tremor, Bradykines... |
ORPHA:454887 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Peripheral axonal neuropathy, Decreased number of peripheral myelinated nerve fibers |
OMIM:607250 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Dysdiadochokinesis, Tremor, Limb dysmetria, Myoclonus, Truncal ataxia |
ORPHA:363710 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Sensory axonal neuropathy, Clumsiness, Athetosis, Decreased number of large peripheral my... |
OMIM:271245 |
Familial Glucocorticoid Deficiency |
|
Testicular adrenal rest tumor, Decreased circulating dehydroepiandrosterone concentration, Abnorm... |
ORPHA:361 |
Paragangliomas 2 |
|
Vagal paraganglioma, Glomus jugular tumor, Chemodectoma, Glomus tympanicum paraganglioma, Vocal c... |
OMIM:601650 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae |
ORPHA:1436 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Parkinsonism, Apraxia, CNS demyelination, Rigidity, Bradykinesia, Gliosis |
OMIM:221820 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Frequent falls, Oculomotor apraxia, Ankle clonus, Generalized dystonia, Dysdiadochokinesis, Perip... |
ORPHA:171629 |
Addison Disease |
|
Delayed puberty, Thymoma, Decreased urinary potassium, Hypoparathyroidism, Primary adrenal insuff... |
ORPHA:85138 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Failure to thrive, Tremor, Spastic paraplegia, Babinski sign |
ORPHA:477673 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Increased circulating androstenedione concentration, Congenital adrenal hyperplasia, Increased se... |
ORPHA:90791 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Spasticity, Progressive truncal ataxia, Upper motor neuron dysfunction, Ataxia, Babinski sign, Pr... |
OMIM:270550 |
Spinocerebellar Ataxia, Autosomal Recessive 23 |
|
Hyponatremia, Neutropenia |
OMIM:616949 |
Mietens Syndrome |
|
Cataract, Elbow ankylosis, Abnormality of fibula morphology, Hip dislocation, Hip dysplasia, Join... |
ORPHA:2557 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Hyperkinetic movements, Abnormal pyramidal sign, Parkinsonism, Limb dystonia, Cogwheel rigidity, ... |
OMIM:613135 |
Meckel Syndrome, Type 8 |
|
Anophthalmia, Microphthalmia |
OMIM:613885 |
Charcot-Marie-Tooth Disease Type 4A |
|
Frequent falls, Poor gross motor coordination, Chronic axonal neuropathy, Vocal cord paresis, Dec... |
ORPHA:99948 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Delayed puberty, Hypernatriuria, Elevated circulating follicle stimulating hormone level, Primary... |
ORPHA:168558 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Frequent falls, Axonal loss, Onion bulb formation, Segmental peripheral demyelination/remyelination |
OMIM:601455 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Motor axonal neuropathy, Sensory axonal neuropathy, Clusters of axonal regeneration, Decreased nu... |
ORPHA:98856 |
Juvenile Nephropathic Cystinosis |
|
Abnormal long bone morphology, Renal phosphate wasting, Hypouricemia, Hypokalemia, Proximal tubul... |
ORPHA:411634 |
Hereditary Coproporphyria |
|
Hepatocellular carcinoma, Abnormal circulating porphyrin concentration, Anemia, Increased urinary... |
ORPHA:79273 |
Neural Tube Defects, Susceptibility To |
|
Myelomeningocele, Anencephaly, Spina bifida occulta, Hydrocephalus |
OMIM:182940 |
Ophthalmoplegia, External, And Myopia |
|
Spina bifida |
OMIM:311000 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Abnormal heart morphology, Persistent pupillary membrane, Corneal opacity, Aplasia/Hypo... |
ORPHA:1067 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Frequent falls, Limb myoclonus, Eyelid myoclonus, Clumsiness, Abnormal lower motor neuron morphol... |
ORPHA:2590 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Progressive spasticity, Progressive cerebellar ataxia, Dysmyelinating leukodystrophy, Clumsiness,... |
ORPHA:137898 |
Erythrokeratodermia Variabilis |
|
Cataract, Diabetes mellitus, Tapered finger, Brachydactyly, Corneal opacity, Abnormal testis morp... |
ORPHA:317 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Myoclonus, Hypertonia, Choreoathetosis, Dystonia |
OMIM:261630 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Myoclonus, Babinski sign |
OMIM:615362 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Global glomerulosclerosis, Hyperaldosteronism, Hypochloremia, Hyperchloriduria, Hypernatriuria, D... |
OMIM:602522 |
Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Metaphyseal widening, Short ribs, Brachydactyly, Coarse metaphyseal trabecularization, Short long... |
OMIM:618961 |
Primary Dystonia, Dyt2 Type |
|
Limb dystonia, Torticollis, Blepharospasm, Generalized dystonia, Tremor, Torsion dystonia, Involu... |
ORPHA:99657 |
Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Progressive cerebellar ataxia, Rigidity, Tremor, Gait ataxia, Myoclonus |
ORPHA:98763 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Clonus, Tremor, Spastic paraplegia, Spastic gait, Babinski sign, Lower limb spasticity |
OMIM:600363 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hepatosplenomegaly, Hypoproteinemia, Jaundice, Leukopenia, Hemophagocytosis, Anemia, Hepatomegaly... |
OMIM:603553 |
Autoimmune Polyendocrinopathy Type 1 |
|
Cataract, Adrenal hyperplasia, Hypoparathyroidism, Decreased circulating aldosterone level, Incre... |
ORPHA:3453 |
Mucopolysaccharidosis, Type Ivb |
|
Grayish enamel, Inguinal hernia, Hip dysplasia, Pointed proximal second through fifth metacarpals... |
OMIM:253010 |
Thiel-Behnke Corneal Dystrophy |
|
Central corneal dystrophy, Subepithelial corneal opacities, Recurrent corneal erosions, Astigmati... |
ORPHA:98960 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Interphalangeal joint contracture of finger, Thin bony cortex, Mitral valve prolapse, Broad metat... |
OMIM:259600 |
Hurler Syndrome |
|
Calvarial hyperostosis, Inguinal hernia, Cardiomyopathy, Hepatomegaly, Flared iliac wing, Diaphys... |
OMIM:607014 |
Sanjad-Sakati Syndrome |
|
Cryptorchidism, Hypoparathyroidism, Astigmatism, Abnormal dental enamel morphology, Hyperphosphat... |
ORPHA:2323 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Progressive spastic paraplegia, Optic disc pallor, Abnormality of extrapyramidal motor function, ... |
ORPHA:320406 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Increased circulating cortisol level, Osteoporosis, Truncal obesity, Primary... |
OMIM:219080 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperaldosteronism, Small for gestational age, Hypochloremia, Nephrocalcinosis, Hyperchloriduria,... |
OMIM:241200 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis |
ORPHA:640 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Vocal cord paralysis, Axonal degeneration, Peripheral axonal neuropathy, Decreased number of peri... |
OMIM:615490 |
Hemihyperplasia, Isolated |
|
Myelomeningocele |
OMIM:235000 |
Alg12-Cdg |
|
Proximal placement of thumb, Long fingers, Muscular ventricular septal defect, B lymphocytopenia,... |
ORPHA:79324 |
Cataract 21, Multiple Types |
|
Cerulean cataract, Cortical pulverulent cataract, Iris coloboma, Corneal opacity, Microcornea, Pe... |
OMIM:610202 |
Bartter Syndrome Type 4 |
|
Hyperaldosteronism, Acute kidney injury, Small for gestational age, Nephrocalcinosis, Chronic kid... |
ORPHA:89938 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Ventricular septal defect, Hepatomegaly, Rocker bottom foot, Elevated circulating creatine kinase... |
OMIM:301056 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Anophthalmia |
ORPHA:411986 |
Acalvaria |
|
Spina bifida, Holoprosencephaly, Hydrocephalus |
ORPHA:945 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
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Spasticity, Dystonia, Ataxia, Progressive spastic paraplegia, Fasciculations, Delayed peripheral ... |
ORPHA:464282 |
Machado-Joseph Disease |
|
Spasticity, Parkinsonism, Limb ataxia, Dystonia, Progressive cerebellar ataxia, Ataxia, Facial-li... |
OMIM:109150 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Machado-Joseph Disease Type 1 |
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Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Spasticity, Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Facial-lingual fa... |
ORPHA:276241 |
Spinocerebellar Ataxia 25 |
|
Babinski sign, Oculomotor apraxia, Ataxia, Decreased number of peripheral myelinated nerve fibers |
OMIM:608703 |
Mucopolysaccharidosis Type 4 |
|
Mucopolysacchariduria, Reduced bone mineral density, Grayish enamel, Abnormal metaphysis morpholo... |
ORPHA:582 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
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Spasticity, Spastic tetraplegia, Torticollis, Dysmyelinating leukodystrophy, Ataxia, Demyelinatin... |
OMIM:609136 |
Short Syndrome |
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Lipodystrophy, Inguinal hernia, Diabetes mellitus, Megalocornea, Abnormal pupil morphology, Abnor... |
ORPHA:3163 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Increased circulating androstenedione concentration, Hypernatriuria, Elevated urinary epinephrine... |
ORPHA:90794 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia |
OMIM:620126 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
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Abnormal circulating aldosterone, Hypernatriuria, Decreased serum creatinine, Reduced blood urea ... |
OMIM:300539 |
Dystonia 13, Torsion, Autosomal Dominant |
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Limb dystonia, Torticollis, Blepharospasm, Writer's cramp, Tremor, Oromandibular dystonia, Torsio... |
OMIM:607671 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Opisthotonus, Gliosis, Axonal lo... |
OMIM:252160 |
Carpenter Syndrome 1 |
|
Ventricular septal defect, Atrial septal defect, Hydroureter, Tetralogy of Fallot, Polysplenia, P... |
OMIM:201000 |
Panhypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95513 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Small for gestational age, Gliosis, Delayed CNS myelination, Hypertonia |
OMIM:615095 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
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Facial diplegia, Limb tremor, Peripheral axonal neuropathy, Demyelinating peripheral neuropathy, ... |
OMIM:218000 |
Familial Dysautonomia |
|
Abnormality of the peritoneum, Osteolysis, Corneal erosion, Abnormal pupil morphology, Renal insu... |
ORPHA:1764 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Hyperaldosteronism, Abnormal response to corticotropin releasing hormone stimulation test, Dorsoc... |
ORPHA:189427 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor |
OMIM:609153 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Parkinsonism, Small for gestational age, Ataxia, Limb hypertonia, Rigidity, Tremor, Bradykinesia,... |
OMIM:261640 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Hyponatremia, Hyperaldosteronism, Increased circulating renin level, Hyperkalemia |
OMIM:620125 |
Acute Peripheral Arterial Occlusion |
|
Paralysis |
ORPHA:90064 |
Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Adenohypophysitis |
|
Decreased serum testosterone concentration, Adrenocorticotropin deficient adrenal insufficiency, ... |
ORPHA:95512 |
Charcot-Marie-Tooth Disease, Recessive Intermediate C |
|
Decreased number of large peripheral myelinated nerve fibers |
OMIM:615376 |
Al-Gazali Syndrome |
|
Hydronephrosis, Proximal radio-ulnar synostosis, Wrist flexion contracture, Osteopenia, Failure t... |
OMIM:609465 |
Familial Hyperaldosteronism Type Ii |
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Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Glucocortocoid-insensitive primary ... |
ORPHA:404 |
Leigh Syndrome |
|
Spasticity, Ataxia, CNS demyelination, Failure to thrive, Gliosis, Hepatocellular necrosis, Optic... |
OMIM:256000 |
Whipple Disease |
|
Myocarditis, Anemia, Hepatomegaly, Cachexia, Hyponatremia, Arthritis, Hypothyroidism, Mediastinal... |
ORPHA:3452 |
Familial Hyperaldosteronism Type Iii |
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Adrenal hyperplasia, Abnormal circulating renin, Left ventricular hypertrophy, Hypokalemia, Hyper... |
ORPHA:251274 |
Brachyolmia Type 1, Toledo Type |
|
Short femoral neck, Precocious costochondral ossification, Opacification of the corneal stroma, B... |
OMIM:271630 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Myeloproliferative disorder, Abnormal erythrocyte enzyme level, Abnormal circulating porphyrin co... |
ORPHA:100924 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Frequent falls, Hand tremor, Chronic axonal neuropathy, Decreased number of large peripheral myel... |
OMIM:162400 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Small for gestational age, Limb hypertonia, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Ce... |
ORPHA:70594 |
Shigellosis |
|
Myocarditis, Abnormal blood ion concentration, Peritonitis, Acute kidney injury, Corneal ulcerati... |
ORPHA:810 |
Autosomal Dominant Cerebellar Ataxia |
|
Progressive cerebellar ataxia, CNS demyelination, Rigidity, Laryngeal dystonia, Fasciculations, D... |
ORPHA:99 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Perineal hypospadias, Adrenal hyperplasia, Impaired cortisol response to corticotropin releasing ... |
OMIM:201810 |
Tangier Disease |
|
Peripheral demyelination, Peripheral axonal neuropathy, Facial diplegia |
OMIM:205400 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Myoclonic spasms, Spastic tetraplegia, Peripheral demyelination, Opisthotonus, Gliosis, Axonal lo... |
OMIM:252150 |
Fish-Eye Disease |
|
Hepatomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Corneal opacity, Splenome... |
ORPHA:79292 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Gliosis, Myoclonus |
OMIM:225753 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Hypokalemia, Secretory adrenocortical adenoma, D... |
ORPHA:403 |
Gómez-López-Hernández Syndrome |
|
Corneal opacity |
ORPHA:1532 |
Fish-Eye Disease |
|
Increased LDL cholesterol concentration, Hypertriglyceridemia, Decreased HDL cholesterol concentr... |
OMIM:136120 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Limb ataxia, Ataxia, Limb fasciculations, Paraparesis, Apraxia, Dysdiadochokinesis, Gait apraxia,... |
OMIM:615157 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Optic atrophy, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Parkinsonism, Dystonia, Head titubation, Rigidity, Tremor, Bradykinesia, Gait ataxia,... |
OMIM:618877 |
Huntington Disease-Like 1 |
|
Frequent falls, Simultanapraxia, Clumsiness, Chorea, Bradykinesia, Gait ataxia, Gliosis, Slurred ... |
ORPHA:157941 |
Brittle Cornea Syndrome 2 |
|
Corneal perforation, Inguinal hernia, Megalocornea, Keratoglobus, Umbilical hernia, Decreased cor... |
OMIM:614170 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Iris coloboma, Corneal opacity, Hematuria, Posterior embryotoxon |
ORPHA:1473 |
Dysraphism-Cleft Lip/Palate-Limb Reduction Defects Syndrome |
|
Anencephaly, Spina bifida |
ORPHA:2476 |
Oculocerebrorenal Syndrome Of Lowe |
|
Delayed puberty, Hyperaldosteronism, Inguinal hernia, Hip dislocation, Nephrocalcinosis, Hyperpar... |
ORPHA:534 |
Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, CNS hypomyelination, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, L... |
OMIM:607694 |
Familial Hypoaldosteronism |
|
Proximal renal tubular acidosis, Increased circulating renin level, Decreased urinary potassium, ... |
ORPHA:427 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Hyperkalemic Periodic Paralysis |
|
Hypokalemia, Elevated circulating creatine kinase concentration, Hyperkalemia, Flexion contractur... |
ORPHA:682 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Atrophy of the spinal cord, Hyperintensity of MRI T2 signal of the spinal cord, Fascicula... |
ORPHA:99965 |
Parkinson Disease 17 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Resting tremor |
OMIM:614203 |
Intellectual Developmental Disorder, Autosomal Dominant 70 |
|
Cataract, Hyponatremia, Failure to thrive |
OMIM:620157 |
Acute Adrenal Insufficiency |
|
Delayed puberty, Adrenal hypoplasia, Increased circulating ACTH level, Hypercalcemia, Increased c... |
ORPHA:95409 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Tremor, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Mucopolysacchariduria, Proteinuria, Small for gestational age, Abnormal T cell morphology, Nephro... |
OMIM:215250 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Axonal regeneration, Decreased number of peripheral myelinated nerve fibers |
OMIM:607831 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Decreased number of large peripheral myelinated nerve fibers, Gait ataxia, Failure to thrive in i... |
ORPHA:90103 |
Multiple Sulfatase Deficiency |
|
Spasticity, Peripheral demyelination, CNS demyelination, Ataxia |
OMIM:272200 |
Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Abnormal pyramidal sign, Ataxia, Astrocytosis, Abnormality of extrapyramidal motor fu... |
ORPHA:204 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Metaphyseal spurs, Ectopia pupillae, Hypoplastic ilia, Ivory epiphyses, Femoral spur, Bowing of t... |
ORPHA:85167 |
Inherited Creutzfeldt-Jakob Disease |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Astrocytosis, Clumsiness, Spastic dysarth... |
ORPHA:282166 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, CNS demyelination |
OMIM:618328 |
Spinocerebellar Ataxia 2 |
|
Spasticity, Parkinsonism, Limb ataxia, Oculomotor apraxia, Progressive cerebellar ataxia, Ataxia,... |
OMIM:183090 |
Zellweger Syndrome |
|
Cataract, Hydronephrosis, Brushfield spots, Cryptorchidism, Jaundice, Ventricular septal defect, ... |
ORPHA:912 |
Primary Angiitis Of The Central Nervous System |
|
Tetraparesis, Parkinsonism, Hemiparesis, Ataxia, Paraparesis, Pseudopapilledema, Paralysis |
ORPHA:140989 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Hyperaldosteronism, Abnormal circulating renin, Ventricular septal defect, H... |
ORPHA:369929 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Abnormal pyramidal sign, Limb ataxia, Oculomotor apraxia, Ataxia, Dysdiadochokinesis, Tremor, Gai... |
OMIM:617145 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Ataxia, Tremor, Myoclonus, Lower limb spasticity, Dysmetria |
OMIM:619028 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Increased circulating ACTH level, Jaundice, Abnormal circulating androgen le... |
ORPHA:90790 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased circulating cortisol level, Osteoporosis, Decreased circulating ACTH level, Macronodula... |
OMIM:615954 |
Mucopolysaccharidosis Type 7 |
|
Mucopolysacchariduria, Inguinal hernia, Joint stiffness, Umbilical hernia, Abnormal hip bone morp... |
ORPHA:584 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:617836 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias |
OMIM:201710 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Dystonia, Leukodystrophy, Rigidity |
OMIM:615010 |
Lowry-Maclean Syndrome |
|
Craniosynostosis, Inguinal hernia, Megalocornea, Atrioventricular canal defect, Osteoporosis, Ost... |
ORPHA:2409 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Spasticity, Parkinsonism, Ataxia, Blepharospasm, Rigidity, Chorea, Tremor, Bradykinesia, Writer's... |
OMIM:606159 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Delayed puberty, Elevated circulating follicle stimulating hormone level, Increased circulating p... |
ORPHA:90793 |
Snakebite Envenomation |
|
Hypopituitarism, Acute kidney injury, Thrombocytopenia, Hyponatremia |
ORPHA:449285 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Limb dystonia, Torticollis, Hand tremor, Blepharospasm, Upper limb postural tremor, Oromandibular... |
ORPHA:420485 |
X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Delayed puberty, Elbow ankylosis, Abnormal metacarpophalangeal joint morphology, Metatarsal synos... |
ORPHA:95699 |
Pituitary Apoplexy |
|
Hypopituitarism, Elevated circulating growth hormone concentration, Mydriasis, Increased circulat... |
ORPHA:95613 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal pyramidal sign, Progressive cerebellar ataxia, Clumsiness, Abnormality of extrapyramidal... |
ORPHA:98757 |
Focal Dermal Hypoplasia |
|
Camptodactyly of finger, Inguinal hernia, Ventricular septal defect, Horseshoe kidney, Toe syndac... |
ORPHA:2092 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Peripheral axonal neuropathy, Tremor, Gait ataxia, Intention tremor, Myoclonus, Babinski ... |
OMIM:616505 |
Porphyria Variegata |
|
Hepatocellular carcinoma, Inappropriate antidiuretic hormone secretion, Chronic kidney disease, N... |
ORPHA:79473 |
Dyggve-Melchior-Clausen Disease |
|
Iliac crest serration, Limited knee extension, Abnormal femoral head morphology, Coxa vara, Abnor... |
ORPHA:239 |
Charcot-Marie-Tooth Disease Type 1F |
|
Demyelinating sensory neuropathy, Limb ataxia, Hand tremor, Cervical spinal cord atrophy, Optic n... |
ORPHA:101085 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue tremor, Motor axonal neuropathy, Sensory axonal neuropathy, Diaphragmatic paralysis, Atrop... |
ORPHA:466768 |
Sheehan Syndrome |
|
Adrenocorticotropin deficient adrenal insufficiency, Hashimoto thyroiditis, Breast hypoplasia, De... |
ORPHA:91355 |
Trisomy 13 |
|
Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia |
ORPHA:3378 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spasticity, Frequent falls, Torticollis, Spastic ataxia, Gait ataxia, Lower limb hypertonia, Gliosis |
OMIM:618369 |
4H Leukodystrophy |
|
Cerebral hypomyelination, Ataxia, Progressive gait ataxia, Abnormality of extrapyramidal motor fu... |
ORPHA:289494 |
Charcot-Marie-Tooth Disease, Type 4B3 |
|
Myelin outfoldings, Onion bulb formation |
OMIM:615284 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Abnormal pyramidal sign, CNS hypomyelination, Cerebral hypomyelination, Ataxia, Dysdi... |
OMIM:614381 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Axonal loss, Onion bulb formation |
OMIM:614455 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Ataxia, Paraparesis, Progressive extrapyramidal movement disorder, Rigidity, Tremor, Myoclonus, H... |
OMIM:612736 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Horseshoe kidney, Abnormal finger morphology, Abnormal toe morphology, Osteopenia, Hypophosphatem... |
OMIM:163200 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Leg dystonia, Blepharospasm, Parkinsonism with favorable response to dopaminergic medication, Pos... |
OMIM:606324 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Ataxia, Titubation, Abnormal myelination, Failure to thrive, Gliosis, L... |
ORPHA:280210 |
L-2-Hydroxyglutaric Aciduria |
|
Abnormal pyramidal sign, Ataxia, Abnormality of extrapyramidal motor function, Gliosis, Severe de... |
OMIM:236792 |
Lcat Deficiency |
|
Decreased circulating apolipoprotein A-I concentration, Proteinuria, Acute kidney injury, Stage 5... |
ORPHA:650 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Goiter, Leukocytosis, Hashimoto thyroiditis, Thrombocytopenia, Hypothyroidism, Hyponatremia |
ORPHA:83601 |
Mucolipidosis Iv |
|
Hypergastrinemia, Corneal opacity, Opacification of the corneal stroma |
OMIM:252650 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Spasticity, Apraxia, Tremor, Gait ataxia, Optic atrophy, Dysmetria |
OMIM:617810 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic spasms, Ataxia, Clumsiness, Chorea, Tremor, Myoclonus, Poor fine motor coor... |
ORPHA:79263 |
Neuropathy, Hereditary Sensory, Type Ie |
|
Ataxia, Decreased number of peripheral myelinated nerve fibers |
OMIM:614116 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Ataxia, Tremor, Choreoathetosis, Dystonia |
OMIM:612716 |
Colchicine Poisoning |
|
Myocarditis, Abnormal blood ion concentration, Hypophosphatemia, Leukocytosis, Renal insufficienc... |
ORPHA:31824 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Elevated circulating creatine kinase concentration, Left ventricular h... |
OMIM:613153 |
Anophthalmia Plus Syndrome |
|
Anophthalmia |
ORPHA:1104 |