Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Depres... |
OMIM:619491 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Short stature, Hypercalciuria, Hypophosphatemia, Nephrocalcinosis, Focal seg... |
OMIM:308990 |
Hypercalcemia, Infantile, 2 |
|
Polyuria, Hypercalcemia, Hypercalciuria, Renal phosphate wasting, Nephrocalcinosis, Hypophosphate... |
OMIM:616963 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Hypomagnesemia 2, Renal |
|
Renal insufficiency, Renal magnesium wasting, Hypokalemia, Hypocalciuria, Hypomagnesemia |
OMIM:154020 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Idiopathic Hypercalciuria |
|
Parathormone-independent increased renal tubular calcium reabsorption, Calcium oxalate nephrolith... |
ORPHA:2197 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Pelizaeus-Merzbacher Disease |
|
Writer's cramp, Tremor, Sudanophilic leukodystrophy, Abnormal pyramidal sign, Choreoathetosis, In... |
OMIM:312080 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Memory impairment |
ORPHA:85292 |
Lysine Malabsorption Syndrome |
|
Renal tubular lysine transport defect, Hyperlysinuria, Growth delay |
OMIM:247950 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Peripheral axonal degeneration, De... |
OMIM:302800 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... |
ORPHA:90103 |
Bartter Syndrome, Type 3 |
|
Hyperchloriduria, Impaired renal ltubular reabsorption of chloride, Polyuria, Renal salt wasting,... |
OMIM:607364 |
Dent Disease 2 |
|
Short stature, Elevated circulating creatine kinase concentration, Chronic kidney disease, Hyperc... |
OMIM:300555 |
Medullary Sponge Kidney |
|
Hematuria, Nephrolithiasis, Distal renal tubular acidosis, Hypercalciuria |
ORPHA:1309 |
Hypercalciuria, Absorptive, 2 |
|
Hypercalciuria, Calcium oxalate nephrolithiasis |
OMIM:143870 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Abnormality of extrapyramidal moto... |
OMIM:614561 |
Threoninemia |
|
Growth delay, Hyperthreoninuria, Hyperthreoninemia |
OMIM:273770 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Depression, Myoclonus |
OMIM:159900 |
Thrombocytopenia 4 |
|
Abnormal platelet volume, Thrombocytopenia |
OMIM:612004 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Saccharopinuria |
|
Citrullinuria, Short stature, Elevated circulating sacchoropine concentration, Histidinuria, Sacc... |
OMIM:268700 |
Hypocalciuric Hypercalcemia, Familial, Type I |
|
Hypercalcemia, Hypermagnesemia, Hypercalciuria, Nephrolithiasis, Hypocalciuria |
OMIM:145980 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Hyperprolinemia Type 1 |
|
Nephropathy, Hyperprolinemia, Proteinuria, Prolinuria |
ORPHA:419 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Hypocalciuric Hypercalcemia, Familial, Type Ii |
|
Hypercalcemia, Parathormone-independent increased renal tubular calcium reabsorption, Hypermagnes... |
OMIM:145981 |
Nephronophthisis-Like Nephropathy 2 |
|
Renal insufficiency, Polyuria, Elevated circulating creatinine concentration, Periglomerular fibr... |
OMIM:619468 |
Hypercalcemia, Infantile, 1 |
|
Polyuria, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Medullary nephrocalci... |
OMIM:143880 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Short stature, Polyuria, Renal salt wasting, Enuresis, Hypokalemia, Hypocalciuria, Increased circ... |
OMIM:612780 |
Iminoglycinuria |
|
Hydroxyprolinemia, Hyperglycinuria, Hyperprolinemia, Hyperglycinemia, Prolinuria, Hydroxyprolinuria |
ORPHA:42062 |
Renal Glucosuria |
|
Glycosuria, Polyuria, Enuresis nocturna |
OMIM:233100 |
Storage Pool Platelet Disease |
|
Decreased mean platelet volume, Acute leukemia |
OMIM:185050 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Cystinuria |
|
Renal insufficiency, Recurrent urinary tract infections, Ornithinuria, Argininuria, Nephrolithias... |
OMIM:220100 |
Thrombocytopenia 3 |
|
Thrombocytopenia, Decreased mean platelet volume |
OMIM:273900 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome |
|
Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia |
ORPHA:494444 |
Bleeding Disorder, Platelet-Type, 16 |
|
Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Anemia, Impaired platelet aggregat... |
OMIM:187800 |
Hyperprolinemia, Type Ii |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239510 |
Dibasic Amino Aciduria I |
|
Dibasicaminoaciduria, Argininuria, Hyperlysinuria, Ornithinuria |
OMIM:222690 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment, Hearing impairment |
OMIM:614369 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Bleeding Disorder, Platelet-Type, 15 |
|
Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume |
OMIM:615193 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Polyuria, Renal magnesium wasting, Nephrocalcinosis, Hypokalemia, Hypomagnesemia, Renal potassium... |
OMIM:618314 |
Bleeding Disorder, Platelet-Type, 24 |
|
Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat... |
OMIM:619271 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... |
OMIM:616515 |
Iminoglycinuria |
|
Hydroxyprolinuria, Hyperglycinuria, Prolinuria |
OMIM:242600 |
Nephronophthisis 1 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:256100 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Helix Syndrome |
|
Renal insufficiency, Polyuria, Hypermagnesemia, Nephrolithiasis, Hypokalemia, Hypocalciuria |
OMIM:617671 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Sensorineural hearing impairment, Chorea, Optic... |
ORPHA:79097 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity, Hearing impair... |
ORPHA:217012 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Renal insufficiency, Hypercalcemia, Parathormone-independent increased renal tubular calcium reab... |
OMIM:600740 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Abnormal vestibular function, Generalized d... |
ORPHA:52368 |
Senior-Loken Syndrome 4 |
|
Stage 5 chronic kidney disease, Polyuria, Nephronophthisis |
OMIM:606996 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Bartter Syndrome, Type 5, Antenatal, Transient |
|
Hyponatremia, Polyuria, Hypercalciuria, Hypochloremia, Hypokalemia, Increased circulating renin l... |
OMIM:300971 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Dementia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Ataxia, Postural tremor, Action tremor, Chorea, Myoclonus, Head tremor, Aprax... |
OMIM:620158 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Hyperphosphaturia, Hypercalciuria, Nephrolithiasis, Renal phosphate wasting, Hypophosphatemia |
OMIM:612286 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Short stature, Generalized aminoaciduria, Hypercalciuria, Hypop... |
OMIM:613388 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Dystonia, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, D... |
ORPHA:101109 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 2 |
|
Medullary nephrocalcinosis, Hypercalciuria |
OMIM:617993 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Distal ... |
OMIM:604484 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Emotional lability, Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Arnold-Chiari Malformation Type I |
|
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Myelopathy, Ve... |
ORPHA:268882 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Schwannomatosis 1 |
|
Vestibular schwannoma, Peripheral schwannoma, Spinal cord tumor |
OMIM:162091 |
Hypocalcemia, Autosomal Dominant 1 |
|
Short stature, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Hypokalemia, Hyperphosphatemia,... |
OMIM:601198 |
Nephronophthisis 4 |
|
Polyuria, Stage 5 chronic kidney disease, Growth delay, Renal corticomedullary cysts, Nephronopht... |
OMIM:606966 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Gait ataxia, Depression, Dementia, Abnormality of extra... |
OMIM:615362 |
Optic Atrophy 3, Autosomal Dominant |
|
Optic disc pallor, Tremor, Optic atrophy, Abnormality of extrapyramidal motor function, Hearing i... |
OMIM:165300 |
Gitelman Syndrome |
|
Polyuria, Renal magnesium wasting, Hypomagnesemia, Growth delay, Enuresis, Hypokalemia, Hypocalci... |
OMIM:263800 |
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant |
|
Macrothrombocytopenia |
OMIM:619840 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Irr... |
OMIM:601382 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... |
OMIM:614436 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Hereditary Renal Hypouricemia |
|
Hypouricemia, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Increased blood... |
ORPHA:94088 |
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy |
|
Hyponatremia, Polyuria, Nephrocalcinosis, Hypokalemia, Hypocalcemia, Hypomagnesemia |
OMIM:620152 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Mental deterioration, Ataxia, Myoclonus |
OMIM:616187 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Depr... |
ORPHA:216873 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Platelet Glycoprotein Iv Deficiency |
|
Giant platelets, Thrombocytopenia |
OMIM:608404 |
Familial Hypocalciuric Hypercalcemia |
|
Hypomagnesiuria, Renal hypophosphatemia, Hypercalcemia, Parathormone-independent increased renal ... |
ORPHA:405 |
Hypomagnesemia 3, Renal |
|
Recurrent urinary tract infections, Polyuria, Hypocitraturia, Renal magnesium wasting, Chronic ki... |
OMIM:248250 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Peripheral axonal neuropathy, Facial palsy, Sensorineural he... |
OMIM:617519 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... |
ORPHA:401768 |
Opticocochleodentate Degeneration |
|
Optic atrophy, Spastic tetraplegia, Cochlear degeneration, Hearing impairment |
OMIM:258700 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia |
OMIM:617018 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Depression, Bradykinesia, Dystonia, Emotional lability |
OMIM:128235 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis |
OMIM:158580 |
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss |
|
Hypercalciuria, Nephrocalcinosis, Growth delay, Hypokalemia, Distal renal tubular acidosis |
OMIM:602722 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Short stature,... |
OMIM:604168 |
Gracile Syndrome |
|
Increased serum pyruvate, Increased circulating ferritin concentration, Aminoaciduria, Increased ... |
OMIM:603358 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Kinetic tremor, Parkinsonism, Chorea, Cerebellar Purkinje layer atrophy, Gait at... |
ORPHA:98756 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Hearing impairment, Hand tremor, Spastic dysarthria, Abnormal myelination,... |
ORPHA:401830 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Enamel-Renal Syndrome |
|
Renal insufficiency, Hypophosphaturia, Impaired renal concentrating ability, Nephrocalcinosis, En... |
ORPHA:1031 |
Adenine Phosphoribosyltransferase Deficiency |
|
2,8-dihydroxyadenine crystalluria, Renal insufficiency, Urolithiasis, Nephrolithiasis, Oliguria, ... |
OMIM:614723 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria |
|
Nephrocalcinosis, Renal tubular acidosis, Hypercalcemia, Hypercalciuria |
OMIM:239199 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Atrophy/Degeneration affecting the brainstem, Decrea... |
ORPHA:99852 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Superficial Siderosis |
|
Cerebellar atrophy, Ataxia, Impaired temperature sensation, Impaired pain sensation, Atrophy of t... |
ORPHA:247245 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Cognitive ... |
ORPHA:314632 |
Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Multifocal epileptiform discharges, Choreoathetosis, Myoclonus, Failure to thrive,... |
OMIM:609056 |
Thrombocytopenia With Beta-Thalassemia, X-Linked |
|
Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu... |
OMIM:314050 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal... |
OMIM:613090 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis, Short stature, Hearing impairment |
OMIM:312910 |
Seizures-Intellectual Disability Due To Hydroxylysinuria Syndrome |
|
Aminoaciduria |
ORPHA:79156 |
Charcot-Marie-Tooth Disease, Recessive Intermediate B |
|
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Distal sensory impai... |
OMIM:613641 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration |
ORPHA:3233 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Severe demyelination of the white matter, Corpu... |
OMIM:236792 |
Dicarboxylic Aminoaciduria |
|
Aminoaciduria, Aspartic aciduria, Nephrolithiasis |
OMIM:222730 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Abnormal auditory evoked potentials, Impaired distal proprioception, Decreased nerve conduction v... |
OMIM:601455 |
Carnosinemia |
|
Carnosinuria |
OMIM:212200 |
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies |
|
Hypospadias, Hypercalcemia, Postnatal growth retardation, Hypercalciuria, Intrauterine growth ret... |
OMIM:614732 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Nephronophthisis 3 |
|
Renal insufficiency, Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary c... |
OMIM:604387 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Parkinsonism, Involuntary movements, Chorea, Weight loss, Dystonia, Cerebral cor... |
ORPHA:98934 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Ce... |
OMIM:617672 |
Hydroxylysinuria |
|
Hyperlysinuria |
OMIM:236900 |
Type 1 Diabetes Mellitus |
|
Polyuria, Decreased level of 1,5 anhydroglucitol in serum |
OMIM:222100 |
Indolylacroyl Glycinuria With Mental Retardation |
|
Hyperglycinuria |
OMIM:243050 |
Tiglic Acidemia |
|
Aminoaciduria |
OMIM:275190 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Attention deficit hyperactivity disorder, Intention tremor |
OMIM:617863 |
Phosphohydroxylysinuria |
|
Phosphohydroxylysinuria |
OMIM:615011 |
Cystathioninuria |
|
Cystathioninuria |
OMIM:219500 |
Beta-Aminoisobutyric Aciduria |
|
Beta-aminoisobutyric aciduria |
OMIM:210100 |
Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... |
ORPHA:98762 |
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss |
|
Leukocyte inclusion bodies, Giant platelets, Macrothrombocytopenia, Neutrophil inclusion bodies, ... |
OMIM:155100 |
Thrombocytopenia 1 |
|
Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia |
OMIM:313900 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Cerebral palsy, Chorea, Babinski sign, Delayed myelination, Choreoathetosis, EEG abnormality, Hyp... |
OMIM:618451 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Short stature, Axonal degeneration, Brachial plexus neuropathy, L... |
OMIM:162100 |
Spinocerebellar Ataxia 40 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadochokinesis, Spastic paraparesis, In... |
OMIM:616053 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Delayed CNS myelination, Abnormal pinna morphology, Ataxia, Tremor, Optic atrophy, Spasticity, Ce... |
OMIM:300983 |
Hyperglycinuria |
|
Hyperglycinuria, Calcium oxalate nephrolithiasis |
OMIM:138500 |
Ichthyosis, Split Hairs, And Amino Aciduria |
|
Aminoaciduria |
OMIM:242550 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Ataxia, Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Chronic kidney disease, Stage 5 chronic ki... |
OMIM:300009 |
Friedreich Ataxia |
|
Decreased motor nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Impaired proprio... |
ORPHA:95 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Cognitive impairment, Truncal ataxia, Spasticity |
OMIM:615768 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Interictal EEG abnormality, Ataxia, Increased neuronal autofluorescent lipopi... |
ORPHA:79263 |
Phenylketonuria |
|
Aminoaciduria |
ORPHA:716 |
Giant platelet syndrome with thrombocytopenia |
|
Giant platelets, Thrombocytopenia |
OMIM:137560 |
Camptodactyly-Taurinuria Syndrome |
|
Increased urinary taurine, Aminoaciduria |
ORPHA:1325 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Hypouricemia, Hypercalcinuria, And Decreased Bone Density |
|
Hypouricemia, Hypercalciuria |
OMIM:242050 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Limb dystonia, Intrauterine growth retardation, Hearing impairment |
OMIM:620270 |
Spinocerebellar Ataxia 37 |
|
Tremor, Frequent falls, Ataxia |
OMIM:615945 |
Diamond-Blackfan Anemia 18 |
|
Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia |
OMIM:618310 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Tremor, Splenomegaly, Choreoathetosis, Irritability, D... |
OMIM:612126 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Familial Isolated Hyperparathyroidism |
|
Renal insufficiency, Hyperphosphaturia, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypophos... |
ORPHA:99879 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... |
ORPHA:282166 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement |
|
Recurrent urinary tract infections, Renal magnesium wasting, Chronic kidney disease, Stage 5 chro... |
OMIM:248190 |
Carnosinase Deficiency |
|
Carnosinuria |
ORPHA:1361 |
Senior-Loken Syndrome 1 |
|
Renal insufficiency, Polyuria, Thickening of the tubular basement membrane, Impaired renal concen... |
OMIM:266900 |
Glutamate Formiminotransferase Deficiency |
|
Growth delay, Aminoaciduria, Elevated urinary formiminoglutamic acid level, Positive ferric chlor... |
OMIM:229100 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Hyponatremia, Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Increased blood ... |
OMIM:613845 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Depression, Irritabi... |
OMIM:618093 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Spinocerebellar atro... |
ORPHA:95433 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Sensorineural hearing im... |
OMIM:214150 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Hypouricemia, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricos... |
OMIM:220150 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Apraxia, Diffuse cerebral atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Dy... |
OMIM:607136 |
Pontocerebellar Hypoplasia, Type 2D |
|
Cerebellar atrophy, Appendicular spasticity, Clonus, Chorea, Delayed myelination, Spastic tetrapl... |
OMIM:613811 |
Lipoid Congenital Adrenal Hyperplasia |
|
Hypospadias, Renal salt wasting |
OMIM:201710 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypercalciuria, Hypokalemia, Polyuria, Decreased circulating renin level |
OMIM:613677 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... |
OMIM:261630 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, EEG abnormality, Hemiparesis, Hypertonia, Myoclonus, ... |
ORPHA:71277 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... |
OMIM:615924 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Abnormal flash visual evoked potentials, Dystonia, Postural tremor, Chorea, O... |
ORPHA:98755 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Abnormal circulating lipid concentration, Foamy urine, Proteinuria, ... |
ORPHA:567548 |
Camptodactyly 1 |
|
Increased urinary taurine |
OMIM:114200 |
Developmental And Epileptic Encephalopathy 17 |
|
Delayed CNS myelination, EEG with burst suppression, Chorea, Cerebral atrophy, Hypsarrhythmia, At... |
OMIM:615473 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Short stature, Optic nerve hypoplasia, Macrotia, Chorea, Spastic te... |
OMIM:617864 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Abnormal amplitude of pattern reversa... |
OMIM:125250 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor |
OMIM:611808 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Hyperphosphaturia, Short stature, Increased circulating beta-C-terminal telopeptide concentration... |
ORPHA:157215 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, D... |
ORPHA:101085 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Delayed CNS myelination, Dystonia, Involuntary movements, Chorea, Multifocal ... |
OMIM:617493 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Gliosis, Ataxia, Parkinsonism, Spastic paraparesis,... |
ORPHA:909 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Limb dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign... |
OMIM:613135 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Depression, Limb dystonia, ... |
ORPHA:71517 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Abnormal nerve conduction velocity, Hearing impairment |
ORPHA:101075 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Aminoaciduria, Severe short stature |
ORPHA:2278 |
Stimmler Syndrome |
|
Intrauterine growth retardation, Aminoaciduria, Short stature |
ORPHA:3199 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Optic atrophy, Abnormality of extrapyramidal motor function, Spast... |
OMIM:258501 |
Cataract-Ataxia-Deafness Syndrome |
|
Ataxia, Short stature, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm... |
ORPHA:1368 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Wei... |
ORPHA:157941 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hypercalciuria, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypocalcemic seizures |
ORPHA:2239 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Parkinsonism with favorable respons... |
OMIM:616710 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Posteriorly rotated ears, Sensorineural hearing impairment, Dehydration, Low-set ears, Intrauteri... |
OMIM:618958 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Short stature, Sensorineural hearing impairment, Dysmetria, Gait atax... |
OMIM:616291 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Myoclonus, Retrocollis, Dystonia, Oromandibular dystonia, Cognitive impairme... |
OMIM:617284 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Sideroblastic anemia, Clonus, Babinski sign, Hypochromic microcytic anemia, Dysmetria, Dysdiadoch... |
OMIM:301310 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Usher Syndrome Type 1 |
|
Ataxia, Sensorineural hearing impairment, Abnormal cochlea morphology, Subcortical cerebral atrop... |
ORPHA:231169 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Postnatal growth retardation, Optic atrophy, Frontotemporal cerebral at... |
ORPHA:391417 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Hypoplasia of the semicircular canal, Ataxia, Cerebral dysmy... |
OMIM:609136 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cerebral atrophy, Cogwheel rigidity, Choreoathetosis, Hyper... |
OMIM:616981 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Postlingual sensorineural hearing impairment, Abnormal posturing, Dystonia, Progressive s... |
OMIM:304700 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wa... |
ORPHA:3337 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia, Low-set ears |
OMIM:618951 |
Hyper-Beta-Alaninemia |
|
Increased urinary taurine, Hyperbeta-alaninemia |
OMIM:237400 |
Transient Neonatal Diabetes Mellitus |
|
Small for gestational age, Dehydration, Intrauterine growth retardation, Failure to thrive, Heari... |
ORPHA:99886 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Lower limb spastici... |
OMIM:616881 |
Spinocerebellar Ataxia Type 14 |
|
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Cognitive i... |
ORPHA:98763 |
De Sanctis-Cacchione Syndrome |
|
Severe short stature, Ataxia, Sensorineural hearing impairment, Axonal degeneration, Optic atroph... |
OMIM:278800 |
Fanconi Renotubular Syndrome 3 |
|
Hyperphosphaturia, Short stature, Elevated circulating creatinine concentration, Growth delay, Gl... |
OMIM:615605 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Chorea, Cerebral atrophy, EEG abnormality, Hyperkinetic mo... |
OMIM:614254 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A... |
OMIM:604320 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Mental deteriorat... |
ORPHA:240103 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyponatremia, Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal s... |
OMIM:602522 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Sensorineural hearing impairment, Cogwheel rigidity, Dysdiad... |
ORPHA:363710 |
Diaminopentanuria |
|
Hyperlysinuria, Cystinuria |
OMIM:222350 |
Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Tremor, Splenomegaly, Rigidity, Irritability, Dystonia, Thrombocytopenia |
OMIM:615010 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Elevated circulating creatine kinase concent... |
ORPHA:1652 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Abnormality of the dorsal colum... |
ORPHA:137898 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Nephronophthisis 11 |
|
Tubular basement membrane disintegration, Polyuria, Stage 5 chronic kidney disease, Growth delay,... |
OMIM:613550 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Hearing impairment |
ORPHA:101078 |
Hyperlysinuria With Hyperammonemia |
|
Dibasicaminoaciduria, Hyperammonemia, Growth delay, Hyperlysinuria, Hyperlysinemia |
OMIM:238750 |
Senior-Loken Syndrome 3 |
|
Polyuria, Stage 5 chronic kidney disease, Enuresis, Renal corticomedullary cysts, Nephronophthisis |
OMIM:606995 |
Methylmalonic Aciduria And Homocystinuria, Cblx Type |
|
Delayed CNS myelination, Short stature, Chorea, Hypsarrhythmia, Choreoathetosis, Athetosis, Failu... |
OMIM:309541 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Chorea, Multifocal epileptiform discharges, Cerebral atrophy, Opisthotonus, M... |
OMIM:616672 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Gait ataxia |
ORPHA:423296 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Short stature, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Hypo... |
OMIM:300554 |
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures |
|
Ataxia, Chorea, Poor coordination, EEG abnormality, Dystonia, Paroxysmal dyskinesia |
OMIM:619150 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Hypernatremia, Megacystis, Polyuria, Short stature |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Hypernatremia, Megacystis, Polyuria, Short stature |
OMIM:304800 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Impaired proprioception, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... |
OMIM:164400 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
EEG with polyspike wave complexes, Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia, EEG wi... |
OMIM:618587 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Delayed CNS myelination, Ataxia, Short stature, Abnormal a... |
OMIM:619260 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Decreased nerve conduction velocity, Optic atrophy, Abnormal pyramida... |
OMIM:256600 |
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis |
|
Aminoaciduria, Severe short stature |
OMIM:204730 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Dystonia, Mental deterioration, Memory impairment, Pa... |
ORPHA:240085 |
Glutathione Synthetase Deficiency |
|
Hemolytic anemia, Ataxia, Spastic tetraparesis, Neutropenia, Intention tremor |
OMIM:266130 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hyperphosphaturia, Polyuria, Hypercalcemia, Hypercalciuria, Aminoaciduria, Hypophosph... |
OMIM:239200 |
Spinocerebellar Ataxia 47 |
|
Ataxia, Short stature, Chorea, Dysmetria, Low-set ears, Spasticity, Cerebellar vermis atrophy |
OMIM:617931 |
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome |
|
Episodic hypokalemia, Renal magnesium wasting, Nephrocalcinosis, Hypomagnesemia, Renal potassium ... |
ORPHA:564178 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... |
ORPHA:401840 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:600116 |
Neurodevelopmental Disorder With Dystonia And Seizures |
|
Cerebellar atrophy, Chorea, EEG with photoparoxysmal response, Spastic tetraplegia, Athetosis, Dy... |
OMIM:619922 |
Mepan Syndrome |
|
Cerebellar atrophy, Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Cerebr... |
ORPHA:508093 |
Slc35A1-Cdg |
|
Giant platelets, Abnormal platelet granules, Thrombocytopenia, Neutropenia |
ORPHA:238459 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Ketonuria, Proteinuria, Hypouricemia, Postnatal growth retardation, Hypercalci... |
OMIM:227810 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Progressive cerebellar at... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Hypsarrhythmia, Myoclonus, Dystonia, Spasticity |
OMIM:616139 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Combined Oxidative Phosphorylation Deficiency 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Growth delay, Choreoatheto... |
OMIM:614932 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Schimke X-Linked Mental Retardation Syndrome |
|
Choreoathetosis, Spasticity, Growth delay, Hearing impairment |
OMIM:312840 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Frequent falls, Crani... |
OMIM:620011 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Usher Syndrome Type 3 |
|
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia |
ORPHA:231183 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus |
OMIM:617235 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Reticular Dysgenesis |
|
Dehydration, Weight loss, Chronic otitis media, Failure to thrive, Hearing impairment |
ORPHA:33355 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Dysmetria, Basal ganglia gliosis, Global brain atrophy |
OMIM:603218 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Peripheral axonal neuropathy, Dystonia, Ataxia, Incoordination, Sensorineural hearing impairment,... |
OMIM:601338 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Limb ataxia, Sp... |
ORPHA:251282 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
5-Oxoprolinase Deficiency |
|
Increased level of L-pyroglutamic acid in urine, Prolinuria, Calcium oxalate nephrolithiasis |
OMIM:260005 |
Sneddon Syndrome |
|
Tremor, Vertigo, Chorea, Hemiparesis |
ORPHA:820 |
Developmental And Epileptic Encephalopathy 110 |
|
Pain insensitivity, Chorea, Spasticity, Low-set ears, Continuous spike and waves during slow slee... |
OMIM:620149 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Short stature, Clonus, Tremor, Chorea, Babinski ... |
ORPHA:397946 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Optic atrophy, Abnormal nerve conduction ve... |
ORPHA:99014 |
Hydroxykynureninuria |
|
Aminoaciduria |
OMIM:236800 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Short s... |
OMIM:134600 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Clumsiness, Progressiv... |
ORPHA:309271 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable response to dopam... |
OMIM:619279 |
Developmental And Epileptic Encephalopathy 84 |
|
Delayed CNS myelination, EEG with burst suppression, Chorea, Babinski sign, Opisthotonus, Hypsarr... |
OMIM:618792 |
Deafness, Autosomal Dominant 87 |
|
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II |
OMIM:620281 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Spastic paraplegia... |
ORPHA:1215 |
Bernard-Soulier Syndrome |
|
Impaired ristocetin-induced platelet aggregation, Giant platelets, Macrothrombocytopenia, Thrombo... |
OMIM:231200 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Action tremor, Babinski sign, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dysmetria, Gait ataxia, Limb ataxi... |
OMIM:617145 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with irregular generalized spike and wave complexes,... |
OMIM:601068 |
Neurodevelopmental Disorder With Hypotonia And Autistic Features With Or Without Hyperkinetic Movements |
|
EEG abnormality, Chorea, Dystonia |
OMIM:618760 |
Infantile Convulsions And Choreoathetosis |
|
Involuntary movements, Chorea, Choreoathetosis, Athetosis, Dystonia, Normal interictal EEG, Parox... |
ORPHA:31709 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Homocarnosinosis |
|
Carnosinuria |
OMIM:236130 |
Bleeding Disorder, Platelet-Type, 21 |
|
Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre... |
OMIM:617443 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, EEG abnormality, Hemipare... |
OMIM:606777 |
Krabbe Disease |
|
Abnormal flash visual evoked potentials, Diffuse cerebral atrophy, Decreased nerve conduction vel... |
OMIM:245200 |
Carbamoyl-Phosphate Synthetase 1 Deficiency |
|
Hypoargininemia, Aminoaciduria, Hyperammonemia, Episodic ammonia intoxication |
ORPHA:147 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Sensorineural hearing impairment, Dysmetria, G... |
OMIM:610185 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Sensorineural hearing impairment, Distal senso... |
OMIM:118300 |
Deafness, X-Linked 6 |
|
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea |
OMIM:300914 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... |
ORPHA:206594 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Cognitive imp... |
OMIM:615528 |
Wiskott-Aldrich Syndrome |
|
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... |
OMIM:301000 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Optic atrophy, Dehydration, Choreoathetosis, Dystonia, Failure to thrive |
ORPHA:79312 |
Bartter Syndrome, Type 1, Antenatal |
|
Hyperchloriduria, Short stature, Polyuria, Increased serum prostaglandin E2, Renal salt wasting, ... |
OMIM:601678 |
Myh9-Related Disease |
|
Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele... |
ORPHA:182050 |
Developmental And Epileptic Encephalopathy 64 |
|
Paroxysmal dystonia, Delayed CNS myelination, Chorea, Hemiparesis, Dystonia, Macrotia, Cerebral c... |
OMIM:618004 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Abnormal posturin... |
OMIM:619565 |
Hyperprolinemia, Type I |
|
Hydroxyprolinuria, Hyperprolinemia, Hyperglycinuria, Prolinuria |
OMIM:239500 |
Birk-Aharoni Syndrome |
|
Chorea, Failure to thrive, Spastic tetraplegia, Hearing impairment |
OMIM:620071 |
Deafness, X-Linked 5, With Peripheral Neuropathy |
|
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... |
OMIM:300614 |
Amelogenesis Imperfecta, Type Ig |
|
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Nephrocalcinosis, Enuresis |
OMIM:204690 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations |
OMIM:615048 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Saccharopinuria |
|
Citrullinuria, Short stature, Hypercystinemia, Hyperammonemia, Cystinuria, Hyperlysinuria, Abnorm... |
ORPHA:3124 |
Fanconi-Bickel Syndrome |
|
Hyperphosphaturia, Hypertriglyceridemia, Hypercalciuria, Generalized aminoaciduria, Hypophosphate... |
ORPHA:2088 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Dehydration, Myoclonus, Failure to thrive, Hearing impairment |
OMIM:560000 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, St... |
OMIM:612925 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Mild postnatal growth retardation, Short stature, Bicarbonaturia, Bicarbonate-... |
ORPHA:47159 |
Nabais Sa-De Vries Syndrome, Type 2 |
|
Posteriorly rotated ears, Failure to thrive in infancy, Polyhydramnios, Chorea, Protruding ear, H... |
OMIM:618829 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Cerebral dysmyelination, Atrophy/Degeneration involving the corti... |
ORPHA:139399 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dy... |
ORPHA:139485 |
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia |
|
Thrombocytopenia, Lymphocytosis, Decreased mean platelet volume |
OMIM:617718 |
Optic Atrophy 8 |
|
Abnormal auditory evoked potentials, Sensorineural hearing impairment, Abnormality of pattern vis... |
OMIM:616648 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Ataxia, Clonus, Cachexia, P... |
ORPHA:300605 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, EEG abno... |
ORPHA:500180 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Spas... |
OMIM:615157 |
Folate Malabsorption, Hereditary |
|
Ataxia, Folate-responsive megaloblastic anemia, Leukopenia, Athetosis, Irritability, Neutropenia,... |
OMIM:229050 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Hypsarrhythmia, Gait... |
OMIM:618321 |
Neonatal Severe Primary Hyperparathyroidism |
|
Aminoaciduria, Short stature |
ORPHA:417 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Huntington Disease |
|
Caudate atrophy, Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Cerebral atrophy... |
ORPHA:399 |
Stxbp1-Related Encephalopathy |
|
Ataxia, EEG with abnormally slow frequencies, Tremor, Delayed myelination, Multifocal epileptifor... |
ORPHA:599373 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Progressive hearing impairment, Abnorm... |
ORPHA:97229 |
Pelizaeus-Merzbacher Disease |
|
Failure to thrive in infancy, Ataxia, Cachexia, Short stature, Optic atrophy, Choreoathetosis, Dy... |
ORPHA:702 |
Gordon Holmes Syndrome |
|
Cerebellar atrophy, Chorea, Ataxia, Cerebral atrophy |
OMIM:212840 |
Pontocerebellar Hypoplasia, Type 2C |
|
Chorea, Dystonia |
OMIM:612390 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Familial Cold Urticaria |
|
Dysesthesia, Sensorineural hearing impairment, Dehydration |
ORPHA:47045 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Renal phosphate wasting, Hyperphosphaturia, Nephrolithiasis, Hypophosphatemia |
OMIM:612287 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Failure to thrive, Axonal degeneration, Clonus, Tongue fasciculations |
OMIM:618811 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612924 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Brain atrophy, Spasticity, Hearing impairment |
ORPHA:941 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Growth delay, Bilateral sensori... |
OMIM:619422 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, High-frequency sensorineural hearing impairment, Tremor, ... |
ORPHA:2590 |
Teratoma, Pineal |
|
Polyuria |
OMIM:273120 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Choreoathetosis, Myoclonus, Progressive sensorineural hearing impairm... |
OMIM:301020 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Elevated circulating creatinine concentration, He... |
OMIM:612926 |
Cystathioninuria |
|
Cystathioninemia, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Gliosis, Dystonia |
OMIM:300857 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment |
OMIM:616155 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Ataxia, Posteriorly rota... |
OMIM:618598 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Somatic sensory dysfunct... |
ORPHA:101077 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Ataxia, Short stature, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, My... |
ORPHA:251347 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Short stature, Hypocitraturia, Nephrolithiasis, Renal cyst, Hypercalciuria, Ne... |
ORPHA:18 |
Hypophosphatasia, Infantile |
|
Elevated urine pyrophosphate, Elevated plasma pyrophosphate, Hypercalcemia, Hypercalciuria, Nephr... |
OMIM:241500 |
Lethal Congenital Contracture Syndrome 8 |
|
Polyhydramnios, Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Peripheral hypo... |
OMIM:616287 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Delayed myelination, Chore... |
ORPHA:319514 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... |
OMIM:601152 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Vitamin B12-Unresponsive Methylmalonic Acidemia |
|
Ataxia, Paraparesis, Optic atrophy, Dehydration, Choreoathetosis, Tetraparesis |
ORPHA:27 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Chorea, Delayed myelination, Progressive cerebellar ataxia, EEG with focal... |
ORPHA:485350 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Chorea, Multifocal epileptiform discharges, EEG with spike-wave complexes (>3.5 Hz), Chor... |
OMIM:619317 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Leukodystrophy, Hypomyelinating, 2 |
|
Decreased motor nerve conduction velocity, Ataxia, Facial palsy, Head titubation, Rigidity, Demye... |
OMIM:608804 |
7Q31 Microdeletion Syndrome |
|
Speech apraxia, Torticollis, Postnatal growth retardation, Hypoplasia of the cochlea, Hypoplasia ... |
ORPHA:251061 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Calcium nephrolithiasis, Abnormal circulating calcium concentration, Hypercalciuria, Renal phosph... |
OMIM:241530 |
Leigh Syndrome |
|
Chorea, Choreoathetosis, Gliosis, Leukodystrophy, Ataxia, Hypsarrhythmia, Athetosis, Sensory axon... |
ORPHA:506 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Cerebral atrophy, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia, Conductive hearin... |
OMIM:618497 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... |
OMIM:615673 |
Cerebellar Atrophy With Seizures And Variable Developmental Delay |
|
Ataxia, Chorea, Dysmetria, Gait ataxia, Cerebellar vermis atrophy |
OMIM:618501 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Spastic gait, Limb tremor, Abnormal myelination, Cerebral c... |
ORPHA:401820 |
Developmental And Epileptic Encephalopathy 40 |
|
Small for gestational age, Spastic tetraparesis, Hypsarrhythmia, Choreoathetosis, Myoclonus, Intr... |
OMIM:617065 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Depression, Hypertonia, Hyperkinetic movements, Dystonia, A... |
OMIM:619738 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Impaired distal proprioception, Decreased number of la... |
OMIM:162400 |
Childhood-Onset Benign Chorea With Striatal Involvement |
|
Chorea, Parkinsonism with favorable response to dopaminergic medication |
ORPHA:494541 |
X-Linked Intellectual Disability, Schimke Type |
|
Failure to thrive in infancy, Short stature, Choreoathetosis, Spasticity, Cerebral cortical atrop... |
ORPHA:85285 |
Corticosterone Methyloxidase Type Ii Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level |
OMIM:610600 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Ataxia, Progressive ... |
ORPHA:206448 |
Chorea, Benign Hereditary |
|
Chorea, Frequent falls |
OMIM:118700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Axonal degeneration |
OMIM:618138 |
Pelger-Huet Anomaly |
|
Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Lower limb hy... |
OMIM:169400 |
Striatal Degeneration, Autosomal Dominant 2 |
|
Chorea, Parkinsonism |
OMIM:616922 |
Corticosterone Methyloxidase Type I Deficiency |
|
Hyponatremia, Renal salt wasting, Hyperkalemia, Growth delay, Increased circulating renin level |
OMIM:203400 |
Glucoglycinuria |
|
Hyperglycinuria, Glycosuria |
OMIM:138070 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Dystonia |
ORPHA:306669 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Writer's cramp, Parkinsonism, Involuntary move... |
ORPHA:98759 |
Galactosemia Iii |
|
Aminoaciduria, Galactosuria, Hypergalactosemia |
OMIM:230350 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Nephrogenic Syndrome Of Inappropriate Antidiuresis |
|
Hyponatremia, Reduced blood urea nitrogen, Hypernatriuria, Hyposthenuria, Decreased serum creatin... |
OMIM:300539 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Ataxia-Pancytopenia Syndrome |
|
Pancytopenia, Ataxia, Babinski sign, Acute myelomonocytic leukemia, Dysmetria, Anemia, Ankle clon... |
OMIM:159550 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Facial palsy, Action tremor, Optic atrophy, Cerebral atrophy, Distal ... |
ORPHA:254886 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Galactose Epimerase Deficiency |
|
Growth delay, Aminoaciduria |
ORPHA:79238 |
X-Linked Hypophosphatemia |
|
Disproportionate short stature, Renal phosphate wasting, Growth delay, Hypocalciuria, Hypophospha... |
ORPHA:89936 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, EEG with abnormally slow frequencies, Chorea, Multifocal epileptifo... |
ORPHA:70472 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cerebellar atrophy, Delayed CNS myelination, Posteriorly rotated ears, Ataxia, Involuntary moveme... |
OMIM:617804 |
Autosomal Recessive Spastic Paraplegia Type 57 |
|
Babinski sign, Spastic paraplegia, Optic atrophy, Abnormal myelination, Spasticity, Abnormality o... |
ORPHA:431329 |
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant |
|
Impaired platelet aggregation, Macrothrombocytopenia |
OMIM:613112 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Short attention span, Ataxia, Tremor, Dysmetria, Myoclonus |
OMIM:619028 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Delayed CNS myelination, Optic neuropathy, Axonal degeneration, Optic atrophy... |
OMIM:616811 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Spastic gait |
OMIM:600363 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Facial palsy, Paralysis, Tremor, Ver... |
ORPHA:297 |
Full Schwannomatosis |
|
Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Peripheral schwannoma, Spinal cord tum... |
ORPHA:93921 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Short stature, Postnatal growth retardation, Chorea, Abnormal pyram... |
ORPHA:309246 |
Bartter Syndrome, Type 2, Antenatal |
|
Hyperchloriduria, Short stature, Polyuria, Increased serum prostaglandin E2, Renal salt wasting, ... |
OMIM:241200 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tremor, Hypoesthesia, Sensorineural hearing impa... |
OMIM:619737 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramidal sign, Parap... |
OMIM:607483 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... |
OMIM:233910 |
Renal Hypoplasia, Bilateral |
|
Hyponatremia, Proteinuria, Short stature, Chronic kidney disease, Hyperkalemia, Oliguria, Renal h... |
ORPHA:97362 |
Chromosome 18Q Deletion Syndrome |
|
Delayed CNS myelination, Failure to thrive in infancy, Short stature, Tremor, Sensorineural heari... |
OMIM:601808 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Jerk-locked premyoclonus spikes, Tremor, EEG with photoparoxysmal response, Myoclonus, Giant soma... |
OMIM:613608 |
Cystinosis, Nephropathic |
|
Aminoaciduria, Renal Fanconi syndrome, Low-molecular-weight proteinuria, Hypophosphatemic rickets... |
OMIM:219800 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Rhizomelia, Polyhydramnios, Tremor, Cerebral atrophy, Dehydration, Ch... |
OMIM:616271 |
Mercaptolactate-Cysteine Disulfiduria |
|
Aminoaciduria |
OMIM:249650 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Depression, Memory impair... |
OMIM:137440 |
Striatonigral Degeneration, Infantile |
|
Optic atrophy, Choreoathetosis, Dystonia, Spasticity, Failure to thrive |
OMIM:271930 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, Lower limb spasticity, ... |
ORPHA:206436 |
Hypocalcemia, Autosomal Dominant 2 |
|
Postnatal growth retardation, Abnormal blood phosphate concentration, Hypocalcemia |
OMIM:615361 |
Urocanase Deficiency |
|
Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... |
ORPHA:139578 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Hypertonia, Dementia, Spasticity |
OMIM:176500 |
Epilepsy, Progressive Myoclonic, 6 |
|
Tremor, Memory impairment, Ataxia, Myoclonus |
OMIM:614018 |
Pontocerebellar Hypoplasia, Type 2A |
|
Polyhydramnios, Chorea, Optic atrophy, Opisthotonus, Gliosis, Extrapyramidal dyskinesia, Dystonia... |
OMIM:277470 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction, Fascicul... |
ORPHA:65684 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Br... |
OMIM:261640 |
Acetyl-Coa Acetyltransferase-2 Deficiency |
|
Chorea |
OMIM:614055 |
Gorham-Stout Disease |
|
Torticollis, Edema, Spinal cord compression, Pleural effusion, Abnormality of the internal audito... |
ORPHA:73 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis, Growth delay, Dystonia |
ORPHA:289916 |
Homozygous 11P15-P14 Deletion Syndrome |
|
Renal tubular dysfunction, Generalized aminoaciduria |
OMIM:606528 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... |
OMIM:218000 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Polyhydramnios, Paralysis, Cerebral atrophy, Facial diplegia |
OMIM:616286 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Short stature, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, G... |
ORPHA:445062 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Short stature, Tremor, Rigidity, Opti... |
ORPHA:442835 |
Guanidinoacetate Methyltransferase Deficiency |
|
Ataxia, Chorea, Athetosis, Abnormality of extrapyramidal motor function, Dystonia, Progressive ex... |
ORPHA:382 |
Hypokalemic Tubulopathy And Deafness |
|
Increased circulating renin level, Renal salt wasting |
OMIM:619406 |
Hsd10 Mitochondrial Disease |
|
Sensorineural hearing impairment, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Spasticity... |
OMIM:300438 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babinski sign, Optic atrophy, Spas... |
ORPHA:225154 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Impaired distal vibration sensation, Abnormal sensory nerve conduction velocity, Tongue f... |
ORPHA:276435 |
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant |
|
Hemolytic anemia, Increased mean platelet volume, Impaired ristocetin-induced platelet aggregatio... |
OMIM:153670 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Abnormal CNS myelination, Low-set ears, Failure to thrive |
ORPHA:477673 |
Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Delayed CNS myelination, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Chor... |
OMIM:617964 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Cerebral atrophy, Dysmetria, Spinocere... |
OMIM:617916 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Atrophy/Degeneration affecting the c... |
ORPHA:228360 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Chorea |
OMIM:601372 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis |
ORPHA:329284 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Choreoathetosis, Limb hypertonia, Myoclonus, Dysto... |
OMIM:606703 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Renal phosphate wasting, Hypophosphatemic rickets, Short stature, Hypophosphatemia |
OMIM:193100 |
Bardet-Biedl Syndrome 17 |
|
Polyuria, Micropenis, Stage 5 chronic kidney disease, Renal cyst |
OMIM:615994 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... |
ORPHA:99750 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Sensorineural hearing impairment, Optic atrophy, EEG abnormality, Hypertonia, Low-set ears, Abnor... |
ORPHA:2971 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, EEG with photoparoxysmal respon... |
OMIM:616230 |
Early-Onset X-Linked Optic Atrophy |
|
Optic disc pallor, Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia... |
ORPHA:98890 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Ataxia, Severe demyelination of the white matter, Atrophy of the spinal cord, Optic atrophy, Hydr... |
ORPHA:79282 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Short stature, Ataxia, Cachexia, Decreased nerve conduction velocity, Sensorineural hearing impai... |
ORPHA:1933 |
Leigh Syndrome |
|
Ataxia, Sensorineural hearing impairment, Optic atrophy, Gliosis, Dystonia, CNS demyelination, Sp... |
OMIM:256000 |
Cataract 11, Multiple Types |
|
Chorea, Hypertonia |
OMIM:610623 |
Pontocerebellar Hypoplasia, Type 8 |
|
Posteriorly rotated ears, Involuntary movements, Chorea, Gait ataxia, Hypertonia, Low-set ears, S... |
OMIM:614961 |
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia |
|
Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia |
OMIM:124900 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Depression, Cognitive imp... |
OMIM:616795 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Vertigo, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Chronic axonal neuropathy, Dystoni... |
OMIM:606002 |
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked |
|
Thrombocytopenia, Spastic diplegia, Increased mean platelet volume |
OMIM:300048 |
Sulfite Oxidase Deficiency, Isolated |
|
Generalized dystonia, Ataxia, Multifocal epileptiform discharges, Cerebral atrophy, Choreoathetos... |
OMIM:272300 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Delayed myelination, Axonal degeneration, Poor coordination, Neurodegeneration,... |
ORPHA:478029 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Conductive hearing impairment, Brain atrophy, Cerebral atrophy, Abnormal myelination |
ORPHA:85179 |
Chromosome Xq21 Deletion Syndrome |
|
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... |
OMIM:303110 |
Apparent Mineralocorticoid Excess |
|
Renal insufficiency, Short stature, Abnormal urine sodium concentration, Nephrocalcinosis, Hypoka... |
ORPHA:320 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Large fleshy ears, Impaired tactile sensation, Hypertonia, Myoclonus... |
OMIM:619092 |
Mitochondrial Complex I Deficiency, Nuclear Type 26 |
|
Cerebellar atrophy, Cerebral atrophy, Choreoathetosis, EEG abnormality, Limb hypertonia, Dystonia... |
OMIM:618247 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Macrotia |
OMIM:616269 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Abnormal vestibular function, Cerebellar atrophy, Periphe... |
ORPHA:276244 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Gait at... |
ORPHA:98771 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Clumsiness, Abnormality of vis... |
ORPHA:309263 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Ataxia, Dysmetria |
OMIM:617917 |
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Chorea, Paroxysmal dyskinesia, EEG with spike-wave complexes (>3.5 Hz) |
ORPHA:79137 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Hypsarrhythmi... |
ORPHA:13 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Lower limb spasticity, Pain insensitivity, Ataxia, Rigidity, Chorea, Low-set ears, Decreased body... |
OMIM:300260 |
Anemia, Sideroblastic, 5 |
|
Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia |
OMIM:619523 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Glutathione Synthetase Deficiency Of Erythrocytes, Hemolytic Anemia Due To |
|
Increased level of L-pyroglutamic acid in urine |
OMIM:231900 |
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Cerebellar atrophy, Chorea, Cerebral atrophy, Gait ataxia, Dystonia, Spasticity |
OMIM:618917 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Optic atrophy, Gait ataxia, Clumsiness, Progr... |
ORPHA:309256 |
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy |
|
Chorea |
OMIM:607674 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Tremor, Babi... |
OMIM:128100 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle... |
ORPHA:3240 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Tremor, Postnatal growth retardation, Obesity, Spastic diplegia, Protruding ear, Low-set ears, Dy... |
ORPHA:480907 |
Argininemia |
|
Diaminoaciduria, Hyperammonemia |
ORPHA:90 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Chorea, Abnormal pyramidal sign, Bradykinesia, H... |
ORPHA:238455 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Abnormality of the seventh cranial nerve, Distal sensory imp... |
ORPHA:90117 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Demyelinating sensory neuropathy, Ataxia, Tremo... |
OMIM:618387 |
Muscular Dystrophy, Cardiac Type |
|
Elevated circulating creatine kinase concentration, Carnosinuria |
OMIM:309930 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Delayed CNS myelination, Ataxia, Tremor, Large fleshy ears, Hypertonia, Failure to thrive |
OMIM:619556 |
Combined Malonic And Methylmalonic Acidemia |
|
Failure to thrive, Dehydration, Dystonia |
ORPHA:289504 |
3-Hydroxyisobutyric Aciduria |
|
Aminoaciduria |
OMIM:236795 |
Cimdag Syndrome |
|
Ataxia, Sensorineural hearing impairment, Chorea, Cerebral atrophy, Pontocerebellar atrophy, Dyst... |
OMIM:619273 |
Developmental And Epileptic Encephalopathy 29 |
|
Short stature, Chorea, Cerebral atrophy, CNS hypomyelination, Blepharospasm, Limb dystonia, Intra... |
OMIM:616339 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Apraxia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Obesity... |
OMIM:300055 |
Sialidosis Type 2 |
|
Ataxia, Short stature, Tremor, Hydrops fetalis, Pedal edema, Ascites, Hearing impairment |
ORPHA:87876 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Elevated circula... |
ORPHA:730 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cognitive impairment, Dystonia, Mental deterioration, Em... |
ORPHA:542310 |
Chorea, Benign Familial |
|
Chorea |
OMIM:215450 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment |
ORPHA:79234 |
Spinocerebellar Ataxia Type 21 |
|
Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Pendred Syndrome |
|
Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ear, Hypoplasia of th... |
ORPHA:705 |
Canavan Disease |
|
Optic atrophy, EEG abnormality, Hypertonia, Abnormality of visual evoked potentials, Hearing impa... |
ORPHA:141 |
Bleeding Disorder, Platelet-Type, 19 |
|
Thrombocytopenia, Macrothrombocytopenia, Anemia |
OMIM:616176 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired pain sensation, Decreased ... |
ORPHA:101097 |
Bartter Syndrome Type 4 |
|
Hyponatremia, Renal salt wasting, Increased urinary potassium, Impaired renal concentrating abili... |
ORPHA:89938 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Abnormality of visual evoked potentials, Optic disc pallor, Frequent falls, Abnormal auditory evo... |
OMIM:617523 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Hyperphosphaturia, Severe short stature, Hypercalcemia, Hypercalciuria, Nephrocalcinosis, Hypopho... |
OMIM:156400 |
East Syndrome |
|
Renal salt wasting, Renal magnesium wasting, Enuresis, Hypokalemia, Increased circulating renin l... |
ORPHA:199343 |
Autosomal Agammaglobulinemia |
|
Chronic otitis media, External ear malformation, Failure to thrive, Dehydration |
ORPHA:33110 |
Deafness-Hypogonadism Syndrome |
|
Stapes ankylosis, Abnormality of the middle ear ossicles, Severe conductive hearing impairment, D... |
ORPHA:90646 |
Rett Syndrome, Congenital Variant |
|
Chorea, Delayed myelination, Protruding ear, EEG abnormality, Athetosis, Dystonia, Spasticity, Ap... |
OMIM:613454 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Spinocerebellar Ataxia Type 27 |
|
Tremor, Limb ataxia, Hand tremor, Gait ataxia, Depression, Truncal ataxia, Memory impairment |
ORPHA:98764 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Dysmetria, Gait ataxia, Choreoathetosis, Blepharospas... |
ORPHA:101 |
Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
Late-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556037 |
Dimethylglycine Dehydrogenase Deficiency |
|
Elevated urinary N,N-dimethylglycine level, Elevated circulating creatine kinase concentration, E... |
OMIM:605850 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Leuk... |
OMIM:612438 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Increased urine deoxypyridinoline level, Short stature, Hydroxyprolinemia, Hypercalciuria, Hyperp... |
OMIM:239000 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Dehydration, Chor... |
ORPHA:2131 |
Pontocerebellar Hypoplasia, Type 2B |
|
Cerebellar atrophy, Clonus, Polyhydramnios, Chorea, Babinski sign, Cerebral atrophy, Opisthotonus... |
OMIM:612389 |
Ritscher-Schinzel Syndrome 4 |
|
Ataxia, Short stature, Chorea, Athetosis, Macrotia |
OMIM:619435 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Extrapyramidal muscular rigidity, Chorea, Abnormal pyramidal sign, Progressive g... |
ORPHA:157946 |
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures |
|
EEG abnormality, Chorea, Spasticity, Dystonia |
OMIM:613970 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Dystonia, Limb hypertonia |
ORPHA:324588 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Paralysis, Distal sensory impairment |
OMIM:613710 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 1 |
|
Small for gestational age, Oligohydramnios, Dehydration, Low-set ears, Failure to thrive, Hearing... |
OMIM:208085 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoathetosis, Limb dystonia, Fr... |
OMIM:619054 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Short stature, Impaired distal vibration sens... |
ORPHA:98768 |
Distal Deletion 10Q |
|
Failure to thrive, Ataxia, Clonus, Short stature, Postnatal growth retardation, Congenital sensor... |
ORPHA:96148 |
Huntington Disease-Like 3 |
|
Caudate atrophy, Ataxia, Chorea, Abnormal pyramidal sign, Spasticity, Abnormality of extrapyramid... |
OMIM:604802 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Renal insufficiency, Proteinuria, Hypocalcemic tetany, Hypouricemia, Chronic kidney... |
ORPHA:411634 |
Chorea, Childhood-Onset, With Psychomotor Retardation |
|
Chorea, Involuntary movements |
OMIM:616939 |
Argininosuccinic Aciduria |
|
Short stature, Hyperglutaminemia, Hyperammonemia, Aminoaciduria, Oroticaciduria, Hypoargininemia |
ORPHA:23 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Dysmetria, Gait ataxia, Choreoathetosi... |
OMIM:604391 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Depression, Myoclonic spasms, Frequent fall... |
OMIM:184850 |
2,4-Dienoyl-Coa Reductase Deficiency |
|
Cerebellar atrophy, Delayed CNS myelination, Incoordination, Ataxia, Clonus, Optic atrophy, Cereb... |
OMIM:616034 |
Diabetes Mellitus, Transient Neonatal, 1 |
|
Severe failure to thrive, Intrauterine growth retardation, Dehydration |
OMIM:601410 |
Propionic Acidemia |
|
Short stature, Cerebral atrophy, Dehydration, Dystonia, Failure to thrive, Limb hypertonia |
OMIM:606054 |
Mitochondrial Dna Depletion Syndrome 17 |
|
Cerebellar atrophy, Spastic tetraparesis, Chorea, Cerebral atrophy, Hemiballismus |
OMIM:618567 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Sensorineural hearing impairment, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Abnormal vestibular function, Substantia nigra gliosis, Facial-lingual fascic... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Abnormal vestibular function, Substantia nigra gliosis, Facial-lingual fascic... |
ORPHA:276241 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, EEG abnormality, Brain atrophy, Low-set ears, Spasticity |
OMIM:618718 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Caudate atrophy, Optic atrophy, Spastic tetraplegia, Choreoathetosis, Dystonia, Intrauterine grow... |
OMIM:618238 |
Posterior Urethral Valve |
|
Renal insufficiency, Recurrent urinary tract infections, Urinary incontinence, Dysuria, Postnatal... |
ORPHA:93110 |
Oculoskeletodental Syndrome |
|
Renal agenesis, Short stature, Hypercalcemia, Hypercalciuria, Mucopolysacchariduria, Hypocalcemia |
OMIM:618440 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Metachromatic Leukodystrophy |
|
Ataxia, Decreased nerve conduction velocity, Chorea, Babinski sign, Optic atrophy, Spastic tetrap... |
OMIM:250100 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Myelopathy, Ab... |
ORPHA:139396 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Tyrosinemia Type 1 |
|
Generalized aminoaciduria |
ORPHA:882 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Hypophosphatemia, Aminoaciduria, Glycosuria, Hypopho... |
OMIM:618913 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Small for gestational age, Short stature, Tremor, Sensorineural hearin... |
OMIM:300957 |
Xq21 Microdeletion Syndrome |
|
Stapes ankylosis, Ataxia, Dilatated internal auditory canal, Postnatal growth retardation, Sensor... |
ORPHA:1435 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Pulsatile tinnitus, Tremor, Cranial nerve compression, Paroxysmal... |
ORPHA:94080 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,... |
ORPHA:646 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Abnormal posturing, Opisthotonus, Weight loss, Spasticit... |
ORPHA:216866 |
Lamellar Ichthyosis |
|
Chronic otitis media, Short stature, Abnormal helix morphology, Dehydration |
ORPHA:313 |
Hemimegalencephaly |
|
EEG with polyspike wave complexes, Interictal EEG abnormality, EEG with burst suppression, Optic ... |
ORPHA:99802 |
Arima Syndrome |
|
Proteinuria, Polyuria, Stage 5 chronic kidney disease, Hematuria, Growth delay, Renal corticomedu... |
OMIM:243910 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegi... |
ORPHA:391428 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Apraxia, Spas... |
OMIM:617810 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Short stature, Tremor, Babinski sign, Optic atrophy,... |
OMIM:607694 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Polyhydramnios, Short stature, Sensorineural h... |
OMIM:619847 |
Oculopharyngodistal Myopathy 3 |
|
Conductive hearing impairment, Sensorineural hearing impairment, Ataxia, Tremor |
OMIM:619473 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Sensorineural hearing impairment, Vestibular areflexia, Optic atrophy, Babinski sign, Dysmetria, ... |
ORPHA:504476 |
Brain-Lung-Thyroid Syndrome |
|
Apraxia, Incoordination, Ataxia, Involuntary movements, Short stature, Sensorineural hearing impa... |
ORPHA:209905 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Short stature, Hypouricemia, Hypophosphatemia, Nephrocalcinosis, ... |
OMIM:616026 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Delayed CNS myelination, Involuntary movements, Chorea, Delayed myelination, ... |
OMIM:615273 |
Thrombocytopenia With Congenital Dyserythropoietic Anemia |
|
Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic... |
ORPHA:67044 |
Sydenham Chorea |
|
Chorea, Hemiballismus |
ORPHA:306731 |
Asparagine Synthetase Deficiency |
|
Caudate atrophy, Failure to thrive, Exaggerated startle response, Optic nerve hypoplasia, Clonus,... |
OMIM:615574 |
Plaa-Associated Neurodevelopmental Disorder |
|
Low-set, posteriorly rotated ears, Exaggerated startle response, Edema of the dorsum of feet, Ede... |
ORPHA:521426 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Trisomy X |
|
Tremor, Attention deficit hyperactivity disorder, Cognitive impairment, Depression |
ORPHA:3375 |
Chronic Hiccup |
|
Dehydration, Weight loss |
ORPHA:396 |
Classic Phenylketonuria |
|
Tremor, Mental deterioration, Paraplegia, Depression, Hypertonia, Attention deficit hyperactivity... |
ORPHA:79254 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hypo... |
ORPHA:73224 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Short stature, Tremor, Limb ataxia, Gait ataxia, Dysmetria, Gliosis, Spas... |
OMIM:213200 |
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct |
|
Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of the cochl... |
OMIM:600791 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Dysmetria, Progressive gait ata... |
ORPHA:289494 |
Early-Onset Familial Hypoaldosteronism |
|
Hyponatremia, Postnatal growth retardation, Hyperkalemia, Increased circulating renin level, Rena... |
ORPHA:556030 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Hearing impairment, Tremor, Sensorineural hearing impairmen... |
OMIM:105210 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Tremor, Optic atrophy, Dysmetri... |
ORPHA:845 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Optic atrophy, Cerebral atrophy, Dysmetria, Gait ataxi... |
OMIM:610217 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypospadias, Renal salt wasting |
OMIM:201910 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, EEG with burst suppression, Aplasia/Hypoplasia... |
ORPHA:168486 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Ataxia, Dehydration, Weight loss, Apraxia, Intrauterine growth reta... |
ORPHA:99885 |
Methionine Malabsorption Syndrome |
|
Aminoaciduria, Positive ferric chloride test |
OMIM:250900 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Mental deterioration, Dysmetria, Gait ataxia, Brad... |
OMIM:300623 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:171863 |
Allan-Herndon-Dudley Syndrome |
|
Failure to thrive in infancy, Small for gestational age, Polyhydramnios, Ataxia, Short stature, D... |
ORPHA:59 |
3-Methylglutaconic Aciduria, Type Ix |
|
Clonus, Optic atrophy, Cerebral atrophy, Hypsarrhythmia, Choreoathetosis, Hypertonia, Spasticity,... |
OMIM:617698 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Vertigo, Chor... |
ORPHA:25 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Optic atrophy, Dystonia,... |
ORPHA:330050 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Short stature, Tremor, Brain atrophy, Decreased body weight, Hearing impairment |
OMIM:278760 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100989 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Hyperka... |
ORPHA:99845 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Sensorineural hearing impairmen... |
ORPHA:255210 |
Developmental And Epileptic Encephalopathy 1 |
|
Delayed CNS myelination, Spastic tetraparesis, EEG with burst suppression, Abnormal pyramidal sig... |
OMIM:308350 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Chorea, Ataxia |
OMIM:618683 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Dystonia |
OMIM:618049 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Failure to thrive, Paresthesia, Paralysis |
OMIM:612740 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Abnormal lower-limb motor evoked potentials, Clonus, Degeneration of the l... |
ORPHA:100999 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dementia, Tongue fasciculations, Myoclonus, Frequent falls |
OMIM:159950 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Diarrhea 4, Malabsorptive, Congenital |
|
Failure to thrive, Dehydration |
OMIM:610370 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Tremor, Rigidity, Paraparesis, Babinski sign, Spastic parapleg... |
OMIM:606693 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, Mental det... |
OMIM:300894 |
Combined Malonic And Methylmalonic Aciduria |
|
Failure to thrive, Dehydration |
OMIM:614265 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Cerebral atrophy, Dysmetria, ... |
OMIM:618088 |
Primary Hyperoxaluria |
|
Hyperoxaluria, Aciduria, Calcium oxalate nephrolithiasis, Chronic kidney disease, Stage 5 chronic... |
ORPHA:416 |
X-Linked Creatine Transporter Deficiency |
|
Ataxia, Aganglionic megacolon, Cachexia, Short stature, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Lower limb spasticity, Parkinsonism, Tremor, Abnormal fear-induced behavior, Irri... |
ORPHA:3077 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Renal insufficiency, Elevated circulating creatine kinase concentration, Hyperamylasemia, Lactica... |
OMIM:619386 |
Hypophosphatemic Rickets, Autosomal Recessive, 2 |
|
Hypophosphatemic rickets, Hyperphosphaturia, Medullary nephrocalcinosis, Short stature |
OMIM:613312 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Failure to thrive, Decreased numbe... |
ORPHA:99949 |
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2 |
|
Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr... |
OMIM:619041 |
Developmental And Epileptic Encephalopathy 78 |
|
Chorea, Cerebral palsy, Spasticity, CNS hypomyelination |
OMIM:618557 |
Cockayne Syndrome B |
|
Severe short stature, Abnormal pinna morphology, Small for gestational age, Abnormal auditory evo... |
OMIM:133540 |
Neuronal Intranuclear Inclusion Disease |
|
Ataxia, Tremor, Rigidity, Dementia, Cognitive impairment |
OMIM:603472 |
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome |
|
Optic disc pallor, Short stature, Clonus, Spastic tetraparesis, Sensorineural hearing impairment,... |
ORPHA:423479 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Spasticity, Myoclonus |
OMIM:618201 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Short stature, Tremor, Sensorineural hearing impairment, Hypertonia, Cerebral cortical atrophy |
ORPHA:1192 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Familial Hyperaldosteronism Type Iii |
|
Hypokalemia, Hypercalciuria |
ORPHA:251274 |
Mitochondrial Complex I Deficiency, Nuclear Type 28 |
|
Cerebellar atrophy, Optic disc pallor, Lower limb spasticity, Optic neuropathy, Optic atrophy, Ab... |
OMIM:618249 |
Waardenburg Syndrome, Type 2E |
|
Aplasia of the semicircular canal, Sensorineural hearing impairment, Dilated vestibule of the inn... |
OMIM:611584 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Small for gestational age, Abnormal auditory evoked potentials, Polyhydramnio... |
OMIM:193700 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Corpus callosum atrophy, Rigidity, Bradykinesia, Glios... |
OMIM:221820 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Polyuria, Hypoalbuminemia, Hypocalcemia, Hypomagnesemia, Rena... |
OMIM:618183 |
Hypermanganesemia With Dystonia 2 |
|
Limb dystonia, Generalized dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, ... |
OMIM:617013 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Abnormality of coordination, Tremor, Spas... |
ORPHA:352649 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Failure to thrive, Lower limb spasticity, Ataxia, Tremor, Po... |
ORPHA:90321 |
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature |
|
Short stature, Tremor, Sensorineural hearing impairment, Protruding ear, Brain atrophy, Decreased... |
OMIM:618342 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Tremor, Splenomegaly, Limb ataxia, Gait ataxia, Spasticity, Frequent falls |
OMIM:616719 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... |
OMIM:608643 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, EEG abnormality, Axonal loss, Gliosis, Myoclonu... |
OMIM:221770 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Dysto... |
ORPHA:225147 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual ... |
OMIM:109150 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Lymphedema, Vertigo, Axonal degeneration, Sensorineural hearing imp... |
OMIM:609242 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spastic tetraparesis, Cerebellar gliosi... |
ORPHA:35069 |
Adrenal Insufficiency, Congenital, With 46,Xy Sex Reversal, Partial Or Complete |
|
Renal salt wasting |
OMIM:613743 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Anteverted ears, Tremor, Poor coordination, Abnormality of pain sensation, Macrotia |
ORPHA:544254 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Limb hypertonia, Fasciculations, Brain ... |
OMIM:620327 |
Pendred Syndrome |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation |
OMIM:274600 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Speech apraxia, Dystonia, Ataxia, Short stature, Tremor, Chorea, Cerebral atr... |
OMIM:615356 |
Systemic Lupus Erythematosus 17 |
|
Chorea, Myelitis |
OMIM:301080 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Delayed CNS myelination, Brain atrophy, Hearing impairment |
OMIM:620114 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paroxysmal verti... |
ORPHA:99857 |
Sialidosis Type 1 |
|
Ataxia, Short stature, Decreased nerve conduction velocity, Tremor, Sensorineural hearing impairm... |
ORPHA:812 |
Snijders Blok-Fisher Syndrome |
|
Delayed CNS myelination, Cupped ear, Opisthotonus, Choreoathetosis, Protruding ear, Spasticity |
OMIM:618604 |
Ornithine Transcarbamylase Deficiency |
|
Aminoaciduria, Hyperammonemia |
ORPHA:664 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Abnor... |
OMIM:216400 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Abnormal myelination, Small for gestational age, Chorea, D... |
ORPHA:404454 |
Spinocerebellar Ataxia Type 3 |
|
Abnormal vestibular function, Abnormal pyramidal sign, Vocal cord paralysis, Clumsiness, Progress... |
ORPHA:98757 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Exaggerated startle re... |
ORPHA:320406 |
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive |
|
Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:264350 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Baker-Gordon Syndrome |
|
Ataxia, Involuntary movements, Choreoathetosis, EEG abnormality, Hyperkinetic movements, Dystonia... |
OMIM:618218 |
Sitosterolemia 1 |
|
Reticulocytosis, Thrombocytopenia, Splenomegaly, Giant platelets, Stomatocytosis, Episodic hemoly... |
OMIM:210250 |
Familial Hypoaldosteronism |
|
Hyponatremia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Proximal renal tubul... |
ORPHA:427 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Posteriorly rotated ears, Edema, Rigidity, Delayed myelination, Bab... |
OMIM:617527 |
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Tremor, Opisthotonus, Choreoathetosis, Hypertonia, Res... |
ORPHA:79139 |
Apert Syndrome |
|
Conductive hearing impairment, Sensorineural hearing impairment, Optic atrophy, Abnormal semicirc... |
ORPHA:87 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Intestinal edema, Pharyngeal edema, Periorbital edema, Laryngeal ed... |
OMIM:106100 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Short stature, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmet... |
OMIM:614381 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Abnormality... |
OMIM:613280 |
Xq12-Q13.3 Duplication Syndrome |
|
Optic disc pallor, Short stature, Impaired pain sensation, Hypsarrhythmia, Anterior creases of ea... |
ORPHA:314389 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Pulsatile tinnitus, Glomus tympanicum paraganglioma, Vocal cord paralysis, C... |
OMIM:601650 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Short stature, Overweight, Tremor, Hyperkinetic movements, Upper limb spasticity, Gliosis, Macrotia |
ORPHA:457240 |
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, EEG with abnormally slow frequencies, Abnormality ... |
ORPHA:1947 |
Familial Renal Glucosuria |
|
Recurrent urinary tract infections, Elevated hemoglobin A1c, Moderate postnatal growth retardatio... |
ORPHA:69076 |
Developmental And Epileptic Encephalopathy 14 |
|
Delayed CNS myelination, Clonus, Tetraplegia, Gliosis, Spasticity, Neuronal loss in central nervo... |
OMIM:614959 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 |
|
Ureteral stenosis, Hydroureter, Hypercalciuria, Renal cyst, Nephrocalcinosis |
OMIM:615398 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Sensorineural hearing impairment, Babinski sign, Xerostomia, S... |
OMIM:618527 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Hemiplegia |
OMIM:614820 |
Nasu-Hakola Disease |
|
Oculomotor apraxia, Chorea, Cerebral cortical atrophy, Spasticity |
ORPHA:2770 |
Chromosome 19Q13.11 Deletion Syndrome, Proximal |
|
Vesicoureteral reflux, Postnatal growth retardation, Hydroureter, Nephrolithiasis |
OMIM:617219 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Abnormal myelination, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
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Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystonia, Mental ... |
OMIM:616840 |
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome |
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Hypocalciuria, Hypophosphaturia |
ORPHA:73223 |
Jaberi-Elahi Syndrome |
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Appendicular spasticity, Tremor, Optic atrophy, Dysmetria, Protruding ear, Choreoathetosis, Gait ... |
OMIM:617988 |
Parkinson Disease, Late-Onset |
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Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:168600 |
Glutamate-Cysteine Ligase Deficiency |
|
Aminoaciduria |
ORPHA:33574 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
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Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Cerebellar gliosis, Babinski si... |
OMIM:616505 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Decreased distal sensory nerve action potential, Tremor, Sensorineural hearing impairment, Optic ... |
ORPHA:99956 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
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Tremor, Sensorineural hearing impairment |
ORPHA:66633 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
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Tremor, Ataxia |
OMIM:618637 |
Behr Syndrome |
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Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Optic atrophy, Dysmetria, Progressive spastici... |
OMIM:210000 |
Hereditary Amyloidosis With Primary Renal Involvement |
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Decreased circulating apolipoprotein A-I concentration, Decreased HDL cholesterol concentration, ... |
ORPHA:85450 |
Autosomal Dominant Hypocalcemia |
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Hypercalciuria, Nephrocalcinosis, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia, Hypermagnesiuria |
ORPHA:428 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Abnormal pinna morphology, Short stature, Tremor, Gait ataxia, Abdominal obesity, Delayed puberty... |
OMIM:300354 |
Inflammatory Skin And Bowel Disease, Neonatal, 2 |
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Failure to thrive, Polyhydramnios, Dehydration |
OMIM:616069 |
Waisman Syndrome |
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Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Parkinsonism w... |
OMIM:311510 |
Horner Syndrome, Congenital |
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Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Galactosemia I |
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Increased level of galactitol in plasma, Albuminuria, Aminoaciduria, Galactosuria, Increased leve... |
OMIM:230400 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
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Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait ataxia, Choreoathetosis, Br... |
OMIM:618877 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
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Tremor, Rigidity, Dysmetria, Gait ataxia |
OMIM:618090 |
Combined Oxidative Phosphorylation Deficiency 24 |
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Cerebellar atrophy, Optic atrophy, CNS hypomyelination, Neurodegeneration, Gliosis, Spasticity, N... |
OMIM:616239 |
Alpha-Methylacetoacetic Aciduria |
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Dehydration |
OMIM:203750 |
Combined Oxidative Phosphorylation Deficiency 18 |
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Tremor, Macrocytic anemia, Hypersegmentation of neutrophil nuclei, Dysmetria |
OMIM:615578 |
Sporadic Creutzfeldt-Jakob Disease |
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Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Hypsarrhythmia, Astrocytosis, A... |
ORPHA:204 |
Sneddon Syndrome |
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Tremor, Lymphopenia, Mental deterioration, Hemiplegia |
OMIM:182410 |
Lactase Deficiency, Congenital |
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Dehydration |
OMIM:223000 |
Primary Hyperoxaluria Type 3 |
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Hyperoxaluria, Dysuria, Calcium oxalate nephrolithiasis, Nephrocalcinosis, Hematuria, Pollakisuri... |
ORPHA:93600 |
X-Linked Adrenoleukodystrophy |
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Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
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Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Progressive psychomotor deterio... |
ORPHA:363400 |
Isobutyryl-Coa Dehydrogenase Deficiency |
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Dehydration |
ORPHA:79159 |
Brown-Vialetto-Van Laere Syndrome 1 |
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Ataxia, Facial palsy, Sensorineural hearing impairment, Vocal cord paralysis, Clumsiness, Ankle c... |
OMIM:211530 |
Pyruvate Carboxylase Deficiency |
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Ataxia, Tremor, Cerebellar gliosis, Delayed myelination, Abnormal pyramidal sign, Dehydration, CN... |
ORPHA:3008 |
Birk-Landau-Perez Syndrome |
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Failure to thrive in infancy, Optic atrophy, Limb ataxia, Choreoathetosis, Growth delay, Dystonia... |
OMIM:617595 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
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Sensorineural hearing impairment, Short stature, Abnormal auditory evoked potentials |
OMIM:109120 |
Foxg1 Syndrome |
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Short stature, Delayed myelination, Choreoathetosis, Severe postnatal growth retardation, Hyperki... |
ORPHA:561854 |
Spinocerebellar Ataxia 8 |
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Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Mannosidosis, Alpha B, Lysosomal |
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Cerebellar atrophy, Spinocerebellar tract disease in lower limbs, Corpus callosum atrophy, Sensor... |
OMIM:248500 |
Spinocerebellar Ataxia 2 |
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Ataxia, Postural tremor, Parkinsonism, Rigidity, Babinski sign, Dysmetria, Limb ataxia, Bradykine... |
OMIM:183090 |
Episodic Kinesigenic Dyskinesia 3 |
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Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Developmental And Epileptic Encephalopathy 49 |
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Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... |
OMIM:617281 |
Crouzon Syndrome |
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Conductive hearing impairment, Narrow internal auditory canal, Optic atrophy, Hearing impairment |
ORPHA:207 |
Dend Syndrome |
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Thickened ears, Dehydration, Hypsarrhythmia |
ORPHA:79134 |
Autosomal Dominant Spastic Paraplegia Type 9A |
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Abnormality of the dorsal column of the spinal cord, Corpus callosum atrophy, Tremor, Sensorineur... |
ORPHA:447753 |
Wilson Disease |
|
Hyperphosphaturia, Decreased circulating ceruloplasmin concentration, Proteinuria, Hypouricemia, ... |
OMIM:277900 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
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Cerebellar atrophy, Diffuse cerebral atrophy, Delayed CNS myelination, Ataxia, Tremor, Optic atro... |
OMIM:617710 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Eosinophilia, Fasciculations |
ORPHA:99965 |
Harlequin Ichthyosis |
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Hearing abnormality, Dehydration |
ORPHA:457 |
Keratoderma Hereditarium Mutilans |
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Abnormal spinal cord morphology, Sensorineural hearing impairment, Hearing impairment |
ORPHA:494 |
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis |
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Growth delay, Dehydration |
OMIM:251850 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Ataxia, Cerebellar gliosis, EEG with focal sharp waves, Cerebral atrop... |
ORPHA:79243 |
Stiff Person Spectrum Disorder |
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Rigidity, Emotional lability, Exaggerated startle response |
ORPHA:3198 |
Branchiootorenal Syndrome 1 |
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Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... |
OMIM:113650 |
Oligomeganephronia |
|
Optic disc coloboma, Small for gestational age, Dehydration, Hearing impairment |
ORPHA:2260 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Neurodegeneration With Brain Iron Accumulation 4 |
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Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Menta... |
OMIM:614298 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
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Decreased nerve conduction velocity, Tremor, Vocal cord paralysis, Bilateral sensorineural hearin... |
ORPHA:397744 |
Classic Progressive Supranuclear Palsy Syndrome |
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Axial dystonia, Parkinsonism, Tremor, Abnormal pyramidal sign, Mental deterioration, Blepharospas... |
ORPHA:240071 |
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency |
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Hyponatremia, Hyperkalemia, Renal salt wasting |
OMIM:614736 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
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Cerebellar atrophy, Ataxia, Short stature, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:614831 |
Pontocerebellar Hypoplasia, Type 7 |
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Ataxia, Spastic paraplegia, Optic atrophy, Cerebral atrophy, Opisthotonus, Choreoathetosis, Hyper... |
OMIM:614969 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Woolly Hair Nevus |
|
Enlarged vestibular aqueduct |
ORPHA:79414 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Ataxia, Spastic tetraparesis, EEG with abnormally slow frequencies, Abnormal pyramidal sign, Titu... |
ORPHA:280219 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Depression, Blepharospasm, Bradykinesia, Dementia, Cognitive impairment, Dyston... |
ORPHA:683 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Branchiootic Syndrome 1 |
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Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... |
OMIM:602588 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Dystonia, Spasticity |
OMIM:617435 |
Tay-Sachs Disease |
|
Psychomotor deterioration, Exaggerated startle response, Hypertonia, Dementia |
OMIM:272800 |
Schwannomatosis, Vestibular |
|
Astrocytoma, Ataxia, Bilateral vestibular schwannoma, Vertigo, Ependymoma, Peripheral schwannoma,... |
OMIM:101000 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
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Delayed CNS myelination, Clonus, Rigidity, EEG with burst suppression, Babinski sign, Optic atrop... |
OMIM:614498 |
Vitamin B12-Responsive Methylmalonic Acidemia |
|
Failure to thrive, Dehydration |
ORPHA:28 |
Mogs-Cdg |
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Absent brainstem auditory responses, Pulmonary edema, Polyhydramnios, Edema, Sensorineural hearin... |
ORPHA:79330 |
Developmental And Epileptic Encephalopathy 4 |
|
Delayed CNS myelination, Tremor, EEG with burst suppression, Spastic paraplegia, Spastic tetraple... |
OMIM:612164 |
Peho Syndrome |
|
Cerebellar atrophy, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Optic atrop... |
OMIM:260565 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paralysis |
OMIM:608634 |
Deafness, X-Linked 2 |
|
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... |
OMIM:304400 |
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome |
|
Abnormal pinna morphology, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, EEG abnormal... |
ORPHA:480898 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Short stature, Hypophosphatemia, Renal tubular dysfunction, Ami... |
ORPHA:213 |
Alexander Disease |
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Ataxia, Facial palsy, Clonus, Tremor, Chorea, Abnormal pyramidal sign, Tetraplegia, EEG abnormali... |
ORPHA:58 |
Generalized Epilepsy With Febrile Seizures-Plus |
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Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Cognitive impairment |
ORPHA:36387 |
Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive, Dehydration, Hearing impairment |
OMIM:619377 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Thrombocytopenia 5 |
|
B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy... |
OMIM:616216 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
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Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, EEG abnormality, Oculomotor ap... |
ORPHA:529665 |
Encephalopathy Due To Sulfite Oxidase Deficiency |
|
Aminoaciduria |
ORPHA:833 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Short stature, Tremor, Dysmetria, Growth delay, P... |
ORPHA:502423 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Gait ataxia, Lower limb hypertonia, Gliosis, Spa... |
OMIM:618369 |
Tryptophanuria With Dwarfism |
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Severe short stature, Tryptophanuria |
OMIM:276100 |
Warsaw Breakage Syndrome |
|
Postnatal growth retardation, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Intraut... |
OMIM:613398 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Cerebral atrophy, Growth delay, EEG abnormality, Gl... |
OMIM:614946 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign, Spasticity, Gait ataxia, Dysdiadoc... |
ORPHA:247234 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania... |
ORPHA:276621 |
Central Diabetes Insipidus |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:178029 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Sensorineural hearing impairment, Optic atrophy, Cerebral atrophy, Growth delay |
OMIM:222300 |
Renal Tubular Dysgenesis |
|
Renotubular dysgenesis, Abnormality of the urinary system, Anuria |
OMIM:267430 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
4Q21 Microdeletion Syndrome |
|
Tremor, Growth delay, Low-set ears, Intrauterine growth retardation, Hearing impairment |
ORPHA:238750 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Edema, Spastic hemiparesis, Dehydration, Hypsarrhythmia, Weight loss, EEG abnormality, My... |
ORPHA:20 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Hyperkinetic movements, Cerebral atrophy, Truncal ataxia |
ORPHA:369847 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Short stature, Optic atrophy, Spastic diplegia, Choreoathetosis, Large earlobe, Spasticity, Macrotia |
ORPHA:2715 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Aminoaciduria, Proximal tubulopathy |
OMIM:612075 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Short stature, Hypercalcemia, Renal phosphate wasting, Hypophosphatemia, Hypophosphatemic rickets |
OMIM:612089 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Abnormal amplitude of flash visual evoked po... |
ORPHA:168491 |
Aceruloplasminemia |
|
Refractory anemia, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Ch... |
ORPHA:48818 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Laryngeal dystonia, Decreased amplitude of se... |
ORPHA:2388 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Sensorineural hearing impairment, Obesity, Choreoathetosis, Syringomyelia, Dyston... |
ORPHA:261197 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Babinski sign, Optic atrophy, Spastic paraplegia... |
OMIM:609541 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebellar atrophy, Delayed CNS myelination, Abnormal pinna morphology, Small for gestational age... |
OMIM:615471 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Clonus, Optic atrophy, Hypertonia, Low-set ears |
OMIM:617301 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:99880 |
Holoprosencephaly |
|
Failure to thrive in infancy, External ear malformation, Chorea, Optic atrophy, Spinal cord tumor... |
ORPHA:2162 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Spherocytosis, Abnormal platelet count, Abnormal... |
OMIM:612690 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Growth delay, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:89937 |
Atypical Rett Syndrome |
|
Involuntary movements, Impaired pain sensation, Tremor, Limb myoclonus, Gait ataxia, Pill-rolling... |
ORPHA:3095 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Decerebrate rigidity, Progre... |
ORPHA:512 |
Proximal 16P11.2 Microduplication Syndrome |
|
Short stature, Tremor, Microtia, Failure to thrive, Decreased body mass index |
ORPHA:370079 |
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome |
|
Attached earlobe, Incoordination, Short stature, Poor fine motor coordination, Undetectable visua... |
ORPHA:436245 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Diffuse cerebral atrophy, Small for gestational age, Short stature, EEG with multifocal slow acti... |
ORPHA:289266 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Frontotemporal dementia, Parkinsonism with favorable response t... |
ORPHA:199351 |
Gm1 Gangliosidosis Type 1 |
|
Diffuse cerebral atrophy, Exaggerated startle response, Hydrops fetalis, Abnormality of extrapyra... |
ORPHA:79255 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Low-set, posteriorly rotated ears, Polyhydramnios, Synotia, Narrow internal auditory canal, Abnor... |
ORPHA:990 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Myoclonus, Dystonia, ... |
OMIM:168601 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Cerebral atrophy, Hypsarrhythmia, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Symmetric peripheral demyelination, Corpus callosum atrophy, Babinski sign, Pseudobulbar ... |
OMIM:169500 |
Developmental And Epileptic Encephalopathy 3 |
|
EEG with burst suppression, Delayed myelination, Cerebral atrophy, Brain atrophy, Abnormality of ... |
OMIM:609304 |
Parathyroid Carcinoma |
|
Renal insufficiency, Renal hamartoma, Hypercalcemia, Nephrolithiasis, Renal cyst, Hypercalciuria,... |
ORPHA:143 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Predominantly lower limb lymphedema, Ataxia, Sensorineural he... |
ORPHA:314404 |
Saethre-Chotzen Syndrome |
|
Short stature, Prominent crus of helix, External ear malformation, Sensorineural hearing impairme... |
ORPHA:794 |
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities |
|
Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy... |
OMIM:300835 |
Secondary Short Bowel Syndrome |
|
Aganglionic megacolon, Dehydration, Weight loss, Growth delay, Failure to thrive |
ORPHA:95427 |
Perry Syndrome |
|
Parkinsonism, Tremor, Rigidity, Frontotemporal dementia, Depression, Bradykinesia, Dystonia |
OMIM:168605 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Ataxia, Chorea, Delayed myelination, EEG with focal sharp waves, Choreoathetosis, EEG abnormality... |
ORPHA:522077 |
Dermotrichic Syndrome |
|
Aminoaciduria, Proportionate short stature |
ORPHA:99688 |
Carnitine Deficiency, Systemic Primary |
|
Failure to thrive, Dehydration |
OMIM:212140 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Vertigo, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxi... |
OMIM:602481 |
Corticosteroid-Binding Globulin Deficiency |
|
Hypokalemia, Decreased urinary potassium |
OMIM:611489 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Short stature, Tremor, Limb ataxia, Dysmetria, Distal sensory impairment, Growth delay, D... |
OMIM:617675 |
Branchiogenic Deafness Syndrome |
|
Mixed hearing impairment, Abnormal pinna morphology, Short stature, Abnormality of the middle ear... |
ORPHA:50815 |
Bor Syndrome |
|
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... |
ORPHA:107 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, EEG with focal spike waves, Posteriorly rotated ears, Ataxia, Overweight, ... |
OMIM:619229 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Increased renal tubular phosphate reabsorption, Decreased renal tubular phosphate exc... |
OMIM:211900 |
Senior-Boichis Syndrome |
|
Thickening of the tubular basement membrane, Chronic kidney disease, Renal atrophy, Renal hypopla... |
ORPHA:84081 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Sensorineural hearing impairment, Hypertonia, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Hypertonia, Sensorineural hearing impairment, Cerebral palsy, Abnormal auditory evoked potentials |
ORPHA:529799 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Growth delay, Abnormal posturing, Failure to thrive, Cerebral atrophy |
OMIM:614857 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Beta-Ketothiolase Deficiency |
|
Ataxia, Edema, Dehydration, Weight loss, Extrapyramidal dyskinesia, Spasticity |
ORPHA:134 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Decreased hemoglobin concentration, Hemolytic anemia, Reticulocytosis, Ataxia, Tremor |
ORPHA:713 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Bernard-Soulier Syndrome |
|
Decreased platelet glycoprotein Ib-IX-V, Giant platelets, Macrothrombocytopenia, Impaired ristoce... |
ORPHA:274 |
Pearson Syndrome |
|
Small for gestational age, Ataxia, Postnatal growth retardation, Hydrops fetalis, Dehydration, Co... |
ORPHA:699 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Aminoaciduria, Elevated circulating creatine kinase concentration |
OMIM:609560 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Gait ataxia, Choreoathetosis, Opisthotonus, ... |
OMIM:619580 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Oculogyric crisis, Tremor, Chorea, Dehydration, Abnormal autono... |
ORPHA:94093 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Chorea, Cogwheel rigidity, Blepharospasm, Abnormality of extrapyramidal moto... |
OMIM:604290 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Optic disc pallor, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia... |
OMIM:612936 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Pandas |
|
Chorea, Clumsiness |
ORPHA:66624 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Frontal lob... |
ORPHA:97355 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Cognitive impairment, Spasticity, Lymphopenia |
ORPHA:100 |
Adrenal Hypoplasia, Congenital |
|
Hyponatremia, Delayed puberty, Renal salt wasting |
OMIM:300200 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Vertigo, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia |
ORPHA:37612 |
Osteopetrosis, Autosomal Recessive 9 |
|
Postnatal growth retardation, Hyperkalemia, Stage 3 chronic kidney disease, Elevated circulating ... |
OMIM:620366 |
Takenouchi-Kosaki Syndrome |
|
Thrombocytopenia, Ataxia, Increased mean platelet volume |
OMIM:616737 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Conjugated hyperbilirubinemia, Nephrocalcinosis, Renal tubular acidosis, Aminoacidur... |
OMIM:613404 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Ataxia, Macrothrombocytopenia, Neutropenia, Decreased platelet glycoprotein Ib, Thrombocytopenia |
OMIM:603585 |
Friedreich Ataxia |
|
Impaired vibratory sensation, Ataxia, Babinski sign, Optic atrophy, Impaired proprioception, Limb... |
OMIM:229300 |
Micro Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Optic atrophy, Delayed puberty, Abnormality of ... |
ORPHA:2510 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Short stature, Tremor, Macrotia, Optic atrophy, Hydrops fetalis, We... |
ORPHA:354 |
Trisomy 10P |
|
Posteriorly rotated ears, Small for gestational age, Abnormal auditory evoked potentials, Poor mo... |
ORPHA:171929 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Aminoaciduria, 3-Methylglutaconic aciduria, Lacticaciduria, Renal hypoplasia |
OMIM:604273 |
Congenital Tufting Enteropathy |
|
Failure to thrive, Optic disc coloboma, Dehydration, Weight loss |
ORPHA:92050 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal blood ion concentration, Abnormal tubulointerstitial morphology, Hypo... |
ORPHA:411629 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Tethered cord, Short stature, Sensorineural hearing impairment, Spinal dysraphism, Incomplete par... |
OMIM:617660 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Ataxia, Dysmetria, Titubation |
OMIM:619405 |
Autoinflammatory Syndrome, Familial, Behcet-Like 1 |
|
Chorea |
OMIM:616744 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Slender build, Myoclonus |
OMIM:617600 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Spastic dysarthria, Blepharospasm, Bradykinesia, Dementia, Oculomotor apraxia |
ORPHA:240094 |
Maternal Uniparental Disomy Of Chromosome 4 |
|
Impaired vibratory sensation, Ataxia, Short stature, Postnatal growth retardation, Sensorineural ... |
ORPHA:96180 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Ataxia, Tremor, Delayed myelination, Spastic tetraplegia, Cerebral atrophy, D... |
ORPHA:572798 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia, Me... |
OMIM:615530 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Ear pain, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, ... |
ORPHA:221098 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Cholera |
|
Hyponatremia, Abnormality of renal excretion, Abnormal blood ion concentration, Hypokalemia, Hypo... |
ORPHA:173 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Delayed CNS myelination, Small for gestational age, Cerebral atrophy, Hyperto... |
OMIM:615095 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... |
ORPHA:2828 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
External ear malformation, Exaggerated startle response, Ataxia, Dystonia |
ORPHA:438216 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Ataxia, Postural tremor, Short stature, Babinski sign, Truncal obesity, Lower... |
OMIM:301072 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:604218 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Postnatal growth retardation, Abnormal pyramidal sign, Progressive hearing impairment, Dy... |
ORPHA:453533 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Short stature, Abnormal circulating calcium concentration, Renal phosphate wasting, Renal tubular... |
OMIM:307800 |
Duplication Of Urethra |
|
Urethral stricture, Recurrent urinary tract infections, Anuria, Hypospadias, Urinary incontinence... |
ORPHA:237 |
Methylmalonyl-Coa Epimerase Deficiency |
|
Spasticity, Failure to thrive, Dehydration |
OMIM:251120 |
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome |
|
Hypertriglyceridemia, Hypercalcemia, Hypercalciuria, Renal cyst, Nephrocalcinosis, Abnormality of... |
ORPHA:369837 |
Pettigrew Syndrome |
|
Sensorineural hearing impairment, Optic atrophy, Gait ataxia, Choreoathetosis, Spasticity, High-f... |
OMIM:304340 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Growth delay, Neonatal death, Low-set ears, Intention ... |
OMIM:614052 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Pulsatile tinnitus, Tremor, Crania... |
ORPHA:29072 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal ... |
ORPHA:83597 |
Developmental And Epileptic Encephalopathy 100 |
|
Delayed CNS myelination, Chorea, EEG with photoparoxysmal response, Cerebral atrophy, Gait ataxia... |
OMIM:619777 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity, Leuk... |
OMIM:612233 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
Dopamine Beta-Hydroxylase Deficiency |
|
Vertigo, Dehydration, Orthostatic hypotension |
ORPHA:230 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyponatremia, Glomerulopathy, Renal insufficiency, Proteinuria, Short stature, Hypoammonemia, Pro... |
ORPHA:534 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Pulsatile tin... |
OMIM:168000 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Charge Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Facial palsy, Hearing impairment, Polyhydramnio... |
ORPHA:138 |
Mcleod Syndrome |
|
Chorea, Dystonia, Motor axonal neuropathy, Impaired vibration sensation at ankles |
OMIM:300842 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Short stature, Titubation, Gliosis, Abnormal myelination, Cerebral... |
ORPHA:280210 |
White-Sutton Syndrome |
|
Delayed CNS myelination, Posteriorly rotated ears, Optic nerve hypoplasia, Short stature, Sensori... |
OMIM:616364 |
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta |
|
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... |
OMIM:615905 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1 |
|
Anuria, Hemolytic-uremic syndrome, Hyperlipidemia, Elevated circulating creatinine concentration,... |
OMIM:235400 |
Noonan Syndrome |
|
Low-set, posteriorly rotated ears, Short stature, Lymphedema, Aplasia of the semicircular canal, ... |
ORPHA:648 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Delayed CNS myelination, Failure to thrive, Dehydration |
OMIM:251000 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thrombocytopenia, Giant platelets, Anemia |
OMIM:611209 |
Full Nf2-Related Schwannomatosis |
|
Somatic sensory dysfunction, Astrocytoma, Glioma, Facial palsy, Bilateral vestibular schwannoma, ... |
ORPHA:637 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia |
OMIM:618060 |
Insulinoma |
|
Tremor, Hearing abnormality, Increased body weight, Paresthesia, Abnormality of pain sensation, N... |
ORPHA:97279 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Postural tremor, Mental deterioration, Gait ataxia, Normochromic anemia, Myoclonus, Intention tre... |
OMIM:254900 |
Monosomy 18Q |
|
Astrocytoma, Short stature, Sensorineural hearing impairment, Macrotia, Poor coordination, Choreo... |
ORPHA:1600 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... |
ORPHA:329478 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Short stature, Corpus callosum atrophy, Tremor, Babinski sign, Impaired distal vibration sensatio... |
OMIM:616586 |
Methylmalonic Aciduria, Cbla Type |
|
Tremor, Failure to thrive, Dehydration |
OMIM:251100 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Sensorineural hearing impairment, M... |
OMIM:607426 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, Short stature, Polyhydramnios, Tremor, Gait ataxia, Protruding ear, Growth delay, Absent ... |
OMIM:300998 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Xerostomia, Neurodegeneration, Sp... |
ORPHA:803 |
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation |
|
Cerebellar atrophy, Corpus callosum atrophy, Optic atrophy, Cerebral atrophy, Brain atrophy, Dyst... |
OMIM:616875 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Short stature, EEG with spike-wave complexes, Spastic t... |
ORPHA:2203 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ataxia |
OMIM:601042 |
Nipah Virus Disease |
|
Tremor, Vertigo, Myoclonus |
ORPHA:99825 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Short stature, Growth delay, Low-set ears, Abnormal myelination, Intrauterine growth retardation |
OMIM:617333 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Peripheral axonal neuropathy, Ataxia, Facial palsy, Edema, Tr... |
ORPHA:254892 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Acute kidney injury, Elevated circulating creatinine concentration, Decreased urine output, Hyper... |
ORPHA:542323 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Postnatal growth retardation, Abnormal earlobe morphology, Dehydration, Intrauterine growth retar... |
ORPHA:96191 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Reticulocytosis, Confusion, Tremor, Schistocytosis, Microangiopathic hemolytic anemia, Thrombocyt... |
OMIM:274150 |
Benign Schwannoma |
|
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... |
ORPHA:252164 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, Generalized dystonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, ... |
OMIM:619653 |
Warburg Micro Syndrome 2 |
|
Asymmetry of the ears, Postnatal growth retardation, Optic atrophy, Spastic diplegia, Undetectabl... |
OMIM:614225 |
Colchicine Poisoning |
|
Hyponatremia, Renal insufficiency, Oliguria, Abnormal blood ion concentration, Hypophosphatemia, ... |
ORPHA:31824 |
Galloway-Mowat Syndrome 9 |
|
Cerebellar atrophy, Choreoathetosis, Low-set ears, Macrotia, Cerebral cortical atrophy |
OMIM:619603 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Dehydration, Edema, Weight loss |
ORPHA:103910 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Proportionate short stature, Failure to thrive in infancy, Dehydration, Weight loss |
ORPHA:171876 |
Pearson Marrow-Pancreas Syndrome |
|
Hypercalciuria, 3-Methylglutaric aciduria, Renal Fanconi syndrome, Complex organic aciduria, Hype... |
OMIM:557000 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated urinary catecholamine level, Hypercalcemia, Elevated urinary norepinephrine level, Hyper... |
ORPHA:653 |
Hereditary Orotic Aciduria |
|
Aminoaciduria, Orotic acid crystalluria, Abnormality of the ureter, Oroticaciduria |
ORPHA:30 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, Low-set ears |
OMIM:300215 |
Purine Nucleoside Phosphorylase Deficiency |
|
Autoimmune hemolytic anemia, Ataxia, Pure red cell aplasia, Autoimmune thrombocytopenia, Tremor, ... |
OMIM:613179 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Proximal tubulopathy, Ethylma... |
OMIM:231680 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Dicarboxylic aciduria, Elevated circulating acylcarnitine concentration, Oliguria, Hyperammonemia... |
ORPHA:159 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Polyhydramnios, Optic atrophy, Vocal cord paralysis, Hypsarrhythmia, Increased cup-to-disc ratio,... |
ORPHA:500144 |
Vici Syndrome |
|
Postnatal growth retardation, Sensorineural hearing impairment, Low-set ears, Abnormal posturing,... |
OMIM:242840 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Zttk Syndrome |
|
Short stature, Polyuria, Unilateral renal agenesis, Horseshoe kidney, Growth delay, Intrauterine ... |
OMIM:617140 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Posteriorly rotated ears, Polyhydramnios, Large for gestational age, Tremor, ... |
OMIM:614080 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
ORPHA:436271 |
Sandhoff Disease |
|
Orthostatic hypotension, Exaggerated startle response, Ataxia, Impaired temperature sensation, CN... |
OMIM:268800 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Torticollis, Posteriorly rotated ears, Hemidystonia, Tremor, Obesity, Recurrent o... |
OMIM:619680 |
Isovaleric Acidemia |
|
Dehydration |
OMIM:243500 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Irritability, Hypertonia |
ORPHA:1578 |
Wolcott-Rallison Syndrome |
|
Short stature, Dehydration, Growth delay, Decreased body weight, Ascites |
ORPHA:1667 |
Leprechaunism |
|
Postnatal growth retardation, Long penis, Hypercalciuria, Nephrocalcinosis, Hypokalemia, Increase... |
ORPHA:508 |
Thiamine-Responsive Megaloblastic Anemia Syndrome |
|
Aminoaciduria, Short stature |
OMIM:249270 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Acanthocytosis, Tremor, Rigidity, Babinski sign, Abnormal p... |
OMIM:234200 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Ataxia, Tremor, Postnatal growth retardation, Spastic diplegia, Spasticity, P... |
OMIM:300966 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Nephrocalcinosis, Hypercalciuria, Short stature, Renal dysplasia |
OMIM:300990 |
Joubert Syndrome |
|
Ataxia, Aganglionic megacolon, Tremor, Low-set ears, Oculomotor apraxia |
ORPHA:475 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Ast... |
OMIM:203700 |
Systemic Capillary Leak Syndrome |
|
Renal insufficiency, Oliguria, Abnormal renal tubule morphology |
ORPHA:188 |
Congenital Short Bowel Syndrome |
|
Failure to thrive, Dehydration |
OMIM:615237 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Hypsar... |
ORPHA:485421 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Muscular edema, Brachial plexus neuropathy, Chorea |
ORPHA:268 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity, Hepatosplenomegaly |
ORPHA:309155 |
Mpdu1-Cdg |
|
Optic atrophy, Absence of acoustic reflex, Hypsarrhythmia, Undetectable visual evoked potentials,... |
ORPHA:79323 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Chorea, Truncal ataxia |
ORPHA:369840 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Hyperkinetic movements, Paresth... |
ORPHA:2912 |
Trichohepatoenteric Syndrome 1 |
|
Splenomegaly, Thrombocytosis, Cognitive impairment, Increased mean platelet volume |
OMIM:222470 |
Autosomal Recessive Spastic Paraplegia Type 11 |
|
Orthostatic hypotension, Peripheral axonal neuropathy, Ataxia, Parkinsonism, Lymphedema, Overweig... |
ORPHA:2822 |
Joubert Syndrome With Renal Defect |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia |
ORPHA:220497 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
OMIM:235800 |
Enteric Anendocrinosis |
|
Dehydration |
ORPHA:83620 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Optic atrophy, CNS h... |
OMIM:617193 |
Serotonin Syndrome |
|
Clonus, Confusion, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... |
ORPHA:43116 |
Histidinemia |
|
Histidinuria, Hyperhistidinemia |
ORPHA:2157 |
X-Linked Intellectual Disability, Cabezas Type |
|
Short stature, Cachexia, Tremor, Abnormal earlobe morphology, Obesity, EEG abnormality |
ORPHA:85293 |
Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Choreoathetosis, Progressive spastic quadriplegia, Nonprogressive cerebellar ... |
ORPHA:431361 |
Hemorrhagic Fever-Renal Syndrome |
|
Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Elevated circulating creatinine ... |
ORPHA:340 |
Chediak-Higashi Syndrome |
|
Impaired neutrophil bactericidal activity, Ataxia, Tremor, Thrombocytopenia, Splenomegaly, Neutro... |
OMIM:214500 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Pulsatile tinnitus, Vocal cord paralysis, Adrenal pheochromocytoma... |
OMIM:605373 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cerebral edema, Cervical myelopathy, Tetrapare... |
OMIM:617186 |
Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Involuntary movements, Orthostatic tachycardia, Rigid... |
ORPHA:217253 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Edema, Impaired pain sensation, Tremor, Impaired temperature sensation, Impaired distal vibration... |
OMIM:619574 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Hyperphosphaturia, Abnormality of renal excretion, Short stature, Renal hypophosphatemia, Renal p... |
ORPHA:289176 |
Dpagt1-Cdg |
|
EEG with generalized slow activity, Ataxia, Tremor, Optic atrophy, Hypsarrhythmia, CNS hypomyelin... |
ORPHA:86309 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Growth delay, Failure to thrive, Dehydration |
OMIM:615453 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Optic neuropathy, Sensorineural hearing impairment... |
OMIM:252010 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Short stature, Postnatal growth retardation, Progressive hearing impairment, Dystonia |
OMIM:616113 |
Rheumatic Fever |
|
Hemiballismus, Chorea, Fasciculations |
ORPHA:3099 |
Mend Syndrome |
|
Short stature, Abnormal auditory evoked potentials, Low-set ears, Failure to thrive, Limb hypertonia |
ORPHA:401973 |
Gyrate Atrophy Of Choroid And Retina |
|
Hyperornithinemia, Aminoaciduria |
ORPHA:414 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Mild postnatal growth retardation, Demyelinating... |
ORPHA:90324 |
Netherton Syndrome |
|
Short stature, Dehydration |
ORPHA:634 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Aminoaciduria |
OMIM:250620 |
Pseudohypoaldosteronism, Type I, Autosomal Dominant |
|
Failure to thrive, Dehydration |
OMIM:177735 |
Deafness, Autosomal Dominant 80 |
|
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia |
OMIM:619274 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Renal tubular dysfunction, Aminoaciduria, Renal Fanconi syndrome,... |
OMIM:220110 |
Primary Unilateral Adrenal Hyperplasia |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231580 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Mental deterioration, Memory impairment |
ORPHA:79095 |
Joubert Syndrome With Ocular Defect |
|
Low-set, posteriorly rotated ears, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia |
ORPHA:220493 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Hyperkalemia, Renal tubular epithelial necrosis, Renal tubular dysfunction, ... |
ORPHA:31826 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Dehydration |
OMIM:602199 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Ataxia, Nonimmune hydrops fetalis, Edema, Pericardial effusion, Tremor, Macro... |
OMIM:212065 |
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development |
|
Delayed CNS myelination, Spastic tetraplegia, Growth delay, Brain atrophy, Abnormality of visual ... |
OMIM:614457 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Choreoathetosis, Ataxia, Cholesteatoma, Dystonia |
OMIM:610978 |
Myasthenic Syndrome, Congenital, 16 |
|
Periodic paralysis |
OMIM:614198 |
Lathosterolosis |
|
Increased mean platelet volume, Acanthocytosis, Schistocytosis, Anisopoikilocytosis, Hepatospleno... |
OMIM:607330 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Polyhydramnios, Fetal ascites, Decreased nerve conduction velocity, Corpus ca... |
OMIM:261515 |
Deafness, Autosomal Recessive 118, With Cochlear Aplasia |
|
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia |
OMIM:619553 |
Bleeding Disorder, Platelet-Type, 17 |
|
Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll... |
OMIM:187900 |
Xeroderma Pigmentosum, Complementation Group A |
|
Ataxia, Sensorineural hearing impairment, Distal sensory impairment, Choreoathetosis, Spasticity |
OMIM:278700 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Short stature, Horseshoe kidney, Growth delay, Hypophosphatemic rickets |
OMIM:163200 |
Cockayne Syndrome |
|
Progressive gait ataxia, Hypertonia, Gliosis, Intention tremor, Ataxia, Cerebral dysmyelination, ... |
ORPHA:191 |
Glucose/Galactose Malabsorption |
|
Failure to thrive, Hypertonic dehydration |
OMIM:606824 |
Oncogenic Osteomalacia |
|
Renal phosphate wasting, Hyperphosphaturia, Hypocalcemia, Hypophosphatemia |
ORPHA:352540 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Syndromic Diarrhea |
|
Increased mean platelet volume, Splenomegaly, Hypoplasia of the thymus, Thrombocytosis, Lymphopenia |
ORPHA:84064 |
Acute Adrenal Insufficiency |
|
Hyponatremia, Renal insufficiency, Hypercalcemia, Decreased urinary potassium, Renal salt wasting... |
ORPHA:95409 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
Snakebite Envenomation |
|
Edema, Paralysis, Angioedema, Pseudobulbar paralysis, Respiratory paralysis |
ORPHA:449285 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Methylmalonic acidemia, Short stature, Elevated circulating creatine kinase concentration, Methyl... |
OMIM:612073 |
Familial Glucocorticoid Deficiency |
|
Hyponatremia, Recurrent urinary tract infections, Renal salt wasting, Hyperkalemia, Hypernatriuria |
ORPHA:361 |
Microscopic Polyangiitis |
|
Hematuria, Glomerulopathy, Renal insufficiency, Oliguria |
ORPHA:727 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Short stature, Periodic paralysis, Growth delay, Low-set ears, P... |
ORPHA:37553 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Ataxia, Short stature, Babinski sign, Optic atrophy, Abnormal autonomic ... |
OMIM:231550 |
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency |
|
Short stature, Renal salt wasting, Long penis, Hypokalemia, Increased urinary 11-deoxycorticoster... |
ORPHA:90795 |
Kleefstra Syndrome Due To A Point Mutation |
|
Short stature, Uplifted earlobe, Large for gestational age, Gliosis, Failure to thrive, Hearing i... |
ORPHA:261652 |
Norrie Disease |
|
Failure to thrive, Clonus, Cachexia, Sensorineural hearing impairment, Optic atrophy, Protruding ... |
ORPHA:649 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Cachexia, Paralysis, Sensorineural hearing impairment, Spastic paraplegia, Limb atax... |
ORPHA:2072 |
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion |
|
Decreased circulating renin level, Hypokalemia, Increased urinary potassium |
ORPHA:231625 |
Tetramelic Deficiencies, Ectodermal Dysplasia, Deformed Ears, And Other Abnormalities |
|
Aminoaciduria |
OMIM:273400 |
Orofaciodigital Syndrome Type 6 |
|
Low-set, posteriorly rotated ears, Ataxia, Short stature, Tremor, Growth delay, Conductive hearin... |
ORPHA:2754 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Slurred speech, Acute lymphoblastic leukemia, T lymphocytopenia, Choreoathetosis,... |
OMIM:208900 |
Isotretinoin-Like Syndrome |
|
Postnatal growth retardation, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Atresia of t... |
ORPHA:2306 |
Diffuse Cutaneous Systemic Sclerosis |
|
Renal insufficiency, Oliguria |
ORPHA:220393 |
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities |
|
Hyponatremia, Calcinosis, Renal hypoplasia, Nephrocalcinosis, Growth delay, Aminoaciduria, Hypoka... |
OMIM:617913 |
Joubert Syndrome With Hepatic Defect |
|
Ataxia, Tremor, Optic disc coloboma, Low-set ears, Oculomotor apraxia |
ORPHA:1454 |
Spondyloenchondrodysplasia |
|
Chorea, Short stature, Spasticity, Disproportionate short-trunk short stature |
ORPHA:1855 |
Glutaric Acidemia I |
|
Rigidity, Delayed myelination, Spastic diplegia, Opisthotonus, Choreoathetosis, Symmetrical progr... |
OMIM:231670 |
Schinzel-Giedion Syndrome |
|
Abnormality of the stapes, Aganglionic megacolon, Failure to thrive in infancy, Ependymoma, Vocal... |
ORPHA:798 |
Acute Monoblastic/Monocytic Leukemia |
|
Oliguria |
ORPHA:514 |
Kallmann Syndrome |
|
Ataxia, Tremor, Sensorineural hearing impairment, Obesity, Paraplegia, Delayed puberty |
ORPHA:478 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Sensorineural hearing impairment, Weight loss, Brain atrophy |
OMIM:164310 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Dehydration, Weight loss |
ORPHA:35710 |
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive |
|
Dehydration |
OMIM:620126 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Elevated circulating creatinine concentration, Hemoglobinuria, Hypokalemia,... |
ORPHA:90038 |
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive |
|
Dehydration |
OMIM:620125 |
Gabriele-De Vries Syndrome |
|
Delayed CNS myelination, Posteriorly rotated ears, Tremor, Low-set ears, Dystonia, Intrauterine g... |
OMIM:617557 |
Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Ependymoma, Dehydration, Weigh... |
ORPHA:652 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Short stature, Tremor, Postnatal growth retardation, Optic atrophy, Abnormal pyramidal si... |
OMIM:612199 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreoathetosis, Spa... |
ORPHA:445038 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Ataxia, Tremor, Splenomegaly, Irritability, Emotional lability |
OMIM:201100 |
Fructose Intolerance, Hereditary |
|
Transient aminoaciduria, Hyperphosphaturia, Bicarbonaturia, Proximal renal tubular acidosis, Hype... |
OMIM:229600 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Cognitive impairment |
OMIM:146500 |
Duane Retraction Syndrome |
|
External ear malformation, Sensorineural hearing impairment, Spina bifida occulta, Blepharospasm,... |
ORPHA:233 |
Beckwith-Wiedemann Syndrome |
|
Ureteral duplication, Elevated circulating alpha-fetoprotein concentration, Nephrolithiasis, Hype... |
ORPHA:116 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Sensorineural hearing impairment, Cerebral atrophy, Growth delay, Hypertonia, Dys... |
OMIM:617248 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Hyponatremia, Hypospadias, Renal salt wasting, Hyperkalemia, Increased circulating renin level, P... |
ORPHA:90791 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, EEG with spike-wave complexes, Tremor, EEG with bur... |
ORPHA:1934 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Abnormality of visual evoked potentials, Hypertonia, Short stature, Cachexia |
ORPHA:1389 |
Diarrhea 1, Secretory Chloride, Congenital |
|
Growth delay, Failure to thrive, Polyhydramnios, Dehydration |
OMIM:214700 |
Autosomal Recessive Malignant Osteopetrosis |
|
Tremor, Growth delay, Otitis media, Abnormality of visual evoked potentials, Optic nerve compress... |
ORPHA:667 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Cerebral edema, Paralysis |
ORPHA:83601 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Rigidity, Weight loss, Bradykinesia, Gliosis, Dystonia, Parkinsonis... |
ORPHA:411602 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Thrombocytopenia, Increased mean platelet volume |
ORPHA:487796 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Polyhydramnios, Large for gestational age, Delayed myelination, Hydrops fe... |
OMIM:300868 |
Hallermann-Streiff Syndrome |
|
Small for gestational age, Spina bifida, Proportionate short stature, Optic disc coloboma, Choreo... |
OMIM:234100 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Delayed CNS myelination, Ataxia, Cerebral atrophy, EEG abnormality, Gliosis, ... |
OMIM:124000 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axon... |
OMIM:252160 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Confusion, Megaloblastic anemia, Tremor, Dementia, Abnormality of extrapyramidal motor function, ... |
OMIM:277400 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Methylmalonic Aciduria, Cblb Type |
|
Failure to thrive, Dehydration |
OMIM:251110 |
Xeroderma Pigmentosum, Complementation Group D |
|
Choreoathetosis, Sensorineural hearing impairment, Ataxia, Spasticity |
OMIM:278730 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:168558 |
Lassa Fever |
|
Oliguria |
ORPHA:99824 |
Infection-Related Hemolytic Uremic Syndrome |
|
Hyponatremia, Anuria, Hyperkalemia, Oliguria, Hypocalcemia, Acute kidney injury, Nephrotic range ... |
ORPHA:544482 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Hyponatremia, Renal salt wasting, Abnormal urine potassium concentration, Hyperkalemia, Hypernatr... |
ORPHA:289548 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Sensorineural hearing impairment, Cerebral atrophy, Choreoathetosis, Growth delay, Hypertonia, Hy... |
ORPHA:17 |
Chédiak-Higashi Syndrome |
|
Abnormal leukocyte morphology, Pancytopenia, Ataxia, Parkinsonism, Tremor, Thrombocytopenia, Sple... |
ORPHA:167 |
D-Glyceric Aciduria |
|
Growth delay, Aminoaciduria, Nonketotic hyperglycinemia, Micropenis |
OMIM:220120 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Short stature, Low-set ears, Periodic paralysis |
OMIM:170390 |
Williams-Beuren Syndrome |
|
Recurrent urinary tract infections, Renal insufficiency, Short stature, Hypercalcemia, Abnormal r... |
OMIM:194050 |
Hyperoxaluria, Primary, Type I |
|
Optic atrophy, Optic neuropathy, Dehydration |
OMIM:259900 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Irritability, Retro... |
OMIM:601104 |
Pantothenate Kinase-Associated Neurodegeneration |
|
Pallidal degeneration, Dystonia, Parkinsonism, Rigidity, Optic atrophy, Leg dystonia, Slurred spe... |
ORPHA:157850 |
Aicardi-Goutières Syndrome |
|
Dystonia, Extrapyramidal muscular rigidity, Short stature, Tremor, Hemiplegia/hemiparesis, Abnorm... |
ORPHA:51 |
Glioblastoma |
|
Glioblastoma multiforme, Cerebral edema, Paralysis |
ORPHA:360 |
Catastrophic Antiphospholipid Syndrome |
|
Chorea |
ORPHA:464343 |
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency |
|
Aminoaciduria, Ketonuria |
OMIM:614520 |
Williams Syndrome |
|
Hypoplasia of penis, Elevated circulating creatine kinase concentration, Abnormal tubulointerstit... |
ORPHA:904 |
Pseudohypoparathyroidism Type 1A |
|
Short stature, Involuntary movements, Spinal cord compression, Sensorineural hearing impairment, ... |
ORPHA:79443 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Short stature, Elevated circulating creatine kinase conce... |
OMIM:309000 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebellar atrophy, Exaggerated startle response, Delayed CNS myelination, Short stature, CNS hyp... |
OMIM:618367 |
Triosephosphate Isomerase Deficiency |
|
Normocytic anemia, Hemolytic anemia, Macrocytic anemia, Tremor, Splenomegaly, Normochromic anemia... |
OMIM:615512 |
Legius Syndrome |
|
Short stature, Neurofibroma, Vestibular schwannoma, Optic nerve glioma, Dystonia, Hearing impairment |
ORPHA:137605 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Elevated circulating creatine kinase concentration, Aminoaciduria, Hypoalbuminemia, Neonatal deat... |
OMIM:619055 |
Osteogenesis Imperfecta |
|
Rhizomelia, Short stature, Hypercalciuria, Nephrolithiasis, Growth delay, Intrauterine growth ret... |
ORPHA:666 |
Lipodystrophy, Familial Partial, Type 7 |
|
Hypercholesterolemia, Hypertriglyceridemia, Polyuria |
OMIM:606721 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Tongue fasciculations |
OMIM:608800 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Short stature, Tremor, Optic atrophy, Obesity, Abnorma... |
OMIM:614947 |
Renal Hypoplasia |
|
Small for gestational age, Dehydration |
ORPHA:93101 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Charge Syndrome |
|
Mixed hearing impairment, Facial palsy, Polyhydramnios, Aplasia of the semicircular canal, Postna... |
OMIM:214800 |
Shigellosis |
|
Failure to thrive in infancy, Dehydration |
ORPHA:810 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Anuria, Megacystis, Pyelonephritis, Fetal megacystis, Renal cortical hyperechogenicity |
OMIM:619351 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Primary Sjögren Syndrome |
|
Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Abnormal spinal cord m... |
ORPHA:289390 |
Hyperchlorhidrosis, Isolated |
|
Hypernatremic dehydration, Failure to thrive |
OMIM:143860 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Small for gestational age, Ataxia, Tremor, Dysmetria, Gliosis, Low-set ears, Truncal at... |
OMIM:220111 |
Brucellosis |
|
Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Ple... |
ORPHA:1304 |
Aneurysm Of Sinus Of Valsalva |
|
Oliguria |
ORPHA:1054 |
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1 |
|
Hemiparesis, Nonarteritic anterior ischemic optic neuropathy, Pseudobulbar paralysis, Abnormality... |
OMIM:125310 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Dehydration, Weight loss, Ascites |
ORPHA:275761 |
Cystic Fibrosis |
|
Hypercalciuria |
OMIM:219700 |
Gitelman Syndrome |
|
Paralysis, Pericardial effusion, Vertigo, Paresthesia, Delayed puberty, Failure to thrive, Tinnitus |
ORPHA:358 |
Papillorenal Syndrome |
|
Short stature, Edema, Sensorineural hearing impairment, Optic disc coloboma, Gliosis |
OMIM:120330 |
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Neonatal death, Dehydration, Oligohydramnios |
OMIM:263200 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrauterine growth retardation, Aminoaciduria, Elevated circulating long chain fatty acid concen... |
OMIM:214110 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Vertigo, Macular edema, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hyponatremia, Recurrent urinary tract infections, Renal insufficiency, Oliguria, Stage 5 chronic ... |
ORPHA:731 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Growth delay, Axonal l... |
OMIM:252150 |
Lujo Hemorrhagic Fever |
|
Renal insufficiency, Microscopic hematuria, Oliguria, Elevated circulating C-reactive protein con... |
ORPHA:319213 |
Sideroblastic Anemia With B-Cell Immunodeficiency, Periodic Fevers, And Developmental Delay |
|
Nephrocalcinosis, Aminoaciduria, Growth delay |
OMIM:616084 |
Pseudohypoaldosteronism Type 2 |
|
Growth delay, Short stature, Periodic paralysis |
ORPHA:757 |
Addison Disease |
|
Hyponatremia, Hypercalcemia, Decreased urinary potassium, Renal salt wasting, Hyperkalemia, Incre... |
ORPHA:85138 |
Sepsis In Premature Infants |
|
Elevated circulating C-reactive protein concentration, Oliguria, Reversible renal failure |
ORPHA:90051 |
Opsismodysplasia |
|
Renal phosphate wasting, Rhizomelia, Disproportionate short-limb short stature, Hypophosphatemia |
OMIM:258480 |
Argininosuccinic Aciduria |
|
Hyperglutaminemia, Hyperammonemia, Episodic ammonia intoxication, Aminoaciduria, Oroticaciduria, ... |
OMIM:207900 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Failure to thrive in infancy, Small for gestational age, Ataxia, Short stature, Oligohydramnios, ... |
ORPHA:268261 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Elevated hemoglobin A1c, Tremor, Babinski sign, Irritability, Hypertonia, Spasticity |
OMIM:616539 |
Sarcoidosis |
|
Renal insufficiency, Hypercalcemia, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, Tubulointe... |
ORPHA:797 |
Woodhouse-Sakati Syndrome |
|
Sensorineural hearing impairment, Protruding ear, Choreoathetosis, Abnormality of extrapyramidal ... |
OMIM:241080 |
Lysinuric Protein Intolerance |
|
Short stature, Hypolysinemia, Increased circulating ferritin concentration, Stage 5 chronic kidne... |
OMIM:222700 |
Vipoma |
|
Ascites, Ganglioneuroma, Dehydration, Weight loss |
ORPHA:97282 |
Microvillus Inclusion Disease |
|
Dehydration |
ORPHA:2290 |
Cardiospondylocarpofacial Syndrome |
|
Posteriorly rotated ears, Short stature, Congenital sensorineural hearing impairment, Fusion of m... |
OMIM:157800 |
Netherton Syndrome |
|
Hypernatremic dehydration, Angioedema, Failure to thrive |
OMIM:256500 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Paresthesia, Fasciculations |
ORPHA:682 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Abnormal myelination, Rigidity, Truncal ataxia, Astrocytosis, Bradykinesia, Poor fine motor coord... |
ORPHA:309854 |
Menkes Disease |
|
Intrauterine growth retardation, Chorea, Hypertonia, Spasticity |
ORPHA:565 |
Sarcoidosis, Susceptibility To, 1 |
|
Hypercalciuria |
OMIM:181000 |
Foodborne Botulism |
|
Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Optic atrophy |
OMIM:253800 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Cardiogenic Shock |
|
Elevated circulating creatinine concentration, Oliguria |
ORPHA:97292 |
Spinal Arteriovenous Metameric Syndrome |
|
Paraparesis, Abnormal spinal cord morphology, Spinal arteriovenous malformation |
ORPHA:53721 |
Microsporidiosis |
|
Dehydration, Cachexia, Weight loss |
ORPHA:2552 |
Mccune-Albright Syndrome |
|
Renal phosphate wasting, Renal tubular dysfunction, Hyperphosphaturia, Hypophosphatemia |
ORPHA:562 |
Gabriele-De Vries Syndrome |
|
Small for gestational age, Posteriorly rotated ears, Tremor, Delayed myelination, Gliosis, Low-se... |
ORPHA:506358 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Growth delay, Failure to thrive, Edema, Dehydration |
ORPHA:79404 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Gaisböck Syndrome |
|
Hypertriglyceridemia, Nephrocalcinosis, Hypernatriuria, Hyperproteinemia, Increased circulating r... |
ORPHA:90041 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Woodhouse-Sakati Syndrome |
|
Protruding ear, Choreoathetosis, Growth delay, Bilateral sensorineural hearing impairment, Dyston... |
ORPHA:3464 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Small for gestational age, Ataxia, Short stature, Voca... |
OMIM:617799 |
Nephrogenic Diabetes Insipidus |
|
Hypernatremic dehydration, Short stature, Polyhydramnios, Growth delay, Failure to thrive |
ORPHA:223 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Marburg Hemorrhagic Fever |
|
Dysesthesia, Dehydration |
ORPHA:99826 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Growth delay, Paralysis |
OMIM:242100 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Facial palsy, Astrocytosis, Pontocerebellar atrophy, Decreased body weight, Abnormality of visual... |
ORPHA:258 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Muscular edema |
ORPHA:83468 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Hyponatremia, Short stature, Renal salt wasting, Long penis, Hyperkalemia, Elevated urinary epine... |
ORPHA:90794 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Tethered cord, Posteriorly rotated ears, Short stature, Growth dela... |
OMIM:619522 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Periodic paralysis, Weight loss |
OMIM:188580 |
Inhalational Botulism |
|
Xerostomia, Paralysis |
ORPHA:254504 |
Amoebiasis Due To Free-Living Amoebae |
|
Ataxia, Facial palsy, Abnormal spinal cord morphology, Hemiparesis, Cerebral edema |
ORPHA:68 |
Diets-Jongmans Syndrome |
|
Short stature, Polyhydramnios, Gliosis, Long ear, Hearing impairment |
OMIM:618846 |
Cranioectodermal Dysplasia 1 |
|
Rhizomelia, Renal magnesium wasting, Chronic kidney disease, Stage 5 chronic kidney disease, Tubu... |
OMIM:218330 |
Exercise-Induced Malignant Hyperthermia |
|
Elevated circulating creatine kinase concentration, Hyperkalemia, Oliguria, Hyperphosphatemia, Hy... |
ORPHA:466650 |
Mosaic Trisomy 20 |
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Intrauterine growth retardation, Abnormal spinal cord morphology, Hearing impairment |
ORPHA:1724 |
Tsh-Secreting Pituitary Adenoma |
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Pericardial effusion, Tremor, Vertigo, Weight loss, Delayed puberty, Periodic hypokalemic paresis |
ORPHA:91347 |
Supranuclear Palsy, Progressive, 2 |
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Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degenera... |
OMIM:609454 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
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Elevated circulating C-reactive protein concentration, Elevated circulating creatinine concentrat... |
ORPHA:91500 |
Fumarase Deficiency |
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Bilateral fetal pyelectasis, Increased urine succinate level, Elevated urine fumaric acid level, ... |
OMIM:606812 |
Ruvalcaba Syndrome |
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Abnormality of visual evoked potentials, Intrauterine growth retardation, Delayed puberty |
ORPHA:3121 |
Degcags Syndrome |
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Failure to thrive, Posteriorly rotated ears, Small for gestational age, Polyhydramnios, Sensorine... |
OMIM:619488 |
Feingold Syndrome 1 |
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Posteriorly rotated ears, Polyhydramnios, Vocal cord paralysis, Low-set ears, Hearing impairment |
OMIM:164280 |
Paramyotonia Congenita Of Von Eulenburg |
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Periodic hypokalemic paresis |
ORPHA:684 |
Stargardt Disease |
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Abnormality of visual evoked potentials |
ORPHA:827 |
Oculocutaneous Albinism Type 1 |
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Abnormality of visual evoked potentials |
ORPHA:352731 |
Hyperkalemic Periodic Paralysis |
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Periodic hyperkalemic paralysis |
OMIM:170500 |
Yellow Fever |
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Renal insufficiency, Anuria, Elevated circulating creatine kinase concentration, Elevated circula... |
ORPHA:99829 |
Pseudohypoaldosteronism, Type Iia |
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Periodic hyperkalemic paralysis |
OMIM:145260 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
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Paralysis |
OMIM:612300 |
X-Linked Intellectual Disability, Armfield Type |
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Aminoaciduria, Organic aciduria, Short stature, Galactosuria |
ORPHA:85276 |
Renal Tubular Acidosis Iii |
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Periodic paralysis |
OMIM:267200 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
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Optic disc pallor, Exaggerated startle response, Short stature, Involuntary movements, Delayed my... |
ORPHA:438213 |
Osteopetrosis, Autosomal Recessive 3 |
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Periodic hypokalemic paresis, Optic nerve compression, Short stature |
OMIM:259730 |
Alkaptonuria |
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Aminoaciduria, Nephrolithiasis |
ORPHA:56 |
Interstitial Lung And Liver Disease |
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Aminoaciduria, Hyperammonemia |
OMIM:615486 |
Systemic Lupus Erythematosus |
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Chorea |
ORPHA:536 |
Pineoblastoma |
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Papilledema, Paralysis |
ORPHA:251909 |
Tyrosinemia, Type I |
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Growth delay, Ascites, Failure to thrive, Periodic paralysis |
OMIM:276700 |
Tetrasomy 9P |
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Intrauterine growth retardation, Abnormal spinal cord morphology, Glue ear, Abnormal earlobe morp... |
ORPHA:3310 |
Liver Disease, Severe Congenital |
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Hyperalaninemia, Hyponatremia, Recurrent urinary tract infections, Hypospadias, Elevated circulat... |
OMIM:619991 |
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
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Oculomotor apraxia, Short stature, Abnormal myelination |
ORPHA:67045 |
Hermansky-Pudlak Syndrome |
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Abnormality of visual evoked potentials, Weight loss |
ORPHA:79430 |
Orofaciodigital Syndrome Type 14 |
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Low-set, posteriorly rotated ears, Abnormal myelination |
ORPHA:434179 |
Oculocutaneous Albinism Type 1A |
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Abnormality of visual evoked potentials |
ORPHA:79431 |
Generalized Arterial Calcification Of Infancy |
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Hyperphosphaturia, Nephrocalcinosis, Hypophosphatemic rickets, Medullary nephrocalcinosis, Cortic... |
ORPHA:51608 |
Limb Body Wall Complex |
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Abnormal spinal cord morphology, Spina bifida occulta, Spina bifida |
ORPHA:2369 |