Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Abnormal circulating calcium concentration, Tremor, Chorea, Rigidity, Abnormal pyra... |
OMIM:213600 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Postural tremor, Parkinsonism, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Impaired distal vib... |
OMIM:128230 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Hypophosphatemic Rickets, Autosomal Recessive, 1 |
|
Increased bone mineral density, Craniosynostosis, Sensorineural hearing impairment, Rickets, Hypo... |
OMIM:241520 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Hypermanganesemia, Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait... |
ORPHA:521406 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Depression, Bradykinesia, Dementia, Gait distu... |
OMIM:616710 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Elbow flexion contracture, Bradykinesia, Falls, Shuffling... |
ORPHA:306692 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... |
OMIM:619279 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Gait disturb... |
OMIM:618418 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Weight loss, Deme... |
OMIM:606438 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea, Limb ataxia, Dysmetria, Gait... |
OMIM:607136 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Akinesia, Limb apraxia, Trem... |
ORPHA:454887 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, Limb dystonia, ... |
ORPHA:71517 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Shuffling gai... |
OMIM:615528 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... |
ORPHA:248111 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Impaired vibratory sensation, Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle... |
ORPHA:100984 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... |
OMIM:618824 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Oromandibular dystonia, Spastic tetraplegia, Depression, Bradykinesia, Tip-toe gait, Ga... |
OMIM:615643 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Depression, Bradykinesia, Frontal lobe demen... |
OMIM:221820 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... |
ORPHA:240103 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Postural tremor, Oculogyric crisis, Parkinsonism, Rigidity, Babinsk... |
ORPHA:101150 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Huntington Disease |
|
Clonus, Chorea, Decreased body mass index, Depression, Clumsiness, Gait disturbance, Gait imbalan... |
ORPHA:399 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Short attention span, Parkinsonism, Motor neuron atrophy, Frontotemporal dementia, Bradykinesia, ... |
ORPHA:412066 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Spastic tetraparesis, Hemidystonia, Abnormal pyramidal sign, Optic atrophy, Bradykinesia, Spastic... |
OMIM:619052 |
Hypermanganesemia With Dystonia 2 |
|
Elevated circulating creatine kinase concentration, Progressive neurologic deterioration, Tremor,... |
OMIM:617013 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Abnormal nerve condu... |
ORPHA:98755 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Dystonia, Ataxia, Small for gestational age, Progressive neurologic deterioration, Parkinsonism, ... |
OMIM:261640 |
Infantile Dystonia-Parkinsonism |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign, Bradykinesia, I... |
ORPHA:238455 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Somatic sensory dysfunction, Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ataxia, Elevated circulating creatine kinase concentration, Facial palsy, Hearing impairment, Opt... |
ORPHA:254886 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Broad-based gait, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hy... |
OMIM:617384 |
Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Chorea, EEG with persistent abnormal rhythmic activity, Abnormal pyramidal sign, Gait ata... |
ORPHA:282166 |
Leber Optic Atrophy And Dystonia |
|
Optic atrophy, Bradykinesia, Athetosis, Dementia, Dystonia, Spasticity, Upper motor neuron dysfun... |
OMIM:500001 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Ataxia, Parkinsonism, Tremor, Macrotia, Flexion contracture, Babinski sign, Obesi... |
OMIM:300055 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, EEG abnormality, Dystonia |
OMIM:617836 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Bradykinesia, Hemiparesis, Difficulty walking, Dystonia |
ORPHA:306669 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Huntington Disease |
|
Rigidity, Chorea, Depression, Bradykinesia, Gait ataxia, Dementia |
OMIM:143100 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Depression, Bradykinesi... |
ORPHA:157941 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance |
OMIM:609161 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Dementia, Abnormal autonomic nervous... |
ORPHA:329284 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Depression, Choreoathetosis, Bradykinesia, O... |
ORPHA:13 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Hearing impairment, Action tremor, Impaired distal... |
OMIM:300623 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Babinski sign, Limb at... |
OMIM:615157 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Oculomotor apra... |
ORPHA:99750 |
Autosomal Dominant Striatal Neurodegeneration |
|
Bradykinesia, Dysdiadochokinesis, Gait disturbance, Rigidity |
ORPHA:228169 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... |
OMIM:607688 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor |
OMIM:610297 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Bradykinesia, Bl... |
ORPHA:240094 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Vitamin D-Dependent Rickets, Type 3 |
|
Osteopenia, Hypocalcemia, Hypophosphatemia |
OMIM:619073 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Limb... |
OMIM:603516 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment,... |
ORPHA:36387 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Ataxia, Incoordination, Sensorineural hearing impairment, Optic atrophy, Dysmetria, Gai... |
OMIM:601338 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Progressive flexion contractures, Postural tremor, Par... |
ORPHA:98808 |
Dravet Syndrome |
|
Short attention span, Incoordination, Parkinsonism, Rigidity, Multifocal epileptiform discharges,... |
ORPHA:33069 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Bradyphrenia, Short attention span, Broad-based gait, Lower limb spasticity, Ataxia, Inability to... |
OMIM:617854 |
Hypophosphatemic Bone Disease |
|
Rickets, Osteomalacia, Hypophosphatemia |
OMIM:146350 |
Hypophosphatemic Rickets, Autosomal Dominant |
|
Hypophosphatemic rickets, Rickets, Osteomalacia, Hypophosphatemia |
OMIM:193100 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Babinski sign, Optic atrophy, Hand tremor, Bradykinesia, Gait disturbance... |
ORPHA:289560 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Dystonia, Elevated circulating creatine kinase concentration, Parkinsonism, Impaired distal propr... |
OMIM:258450 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Depression, Bradykinesia, Gait ataxia, Memory impair... |
OMIM:137440 |
Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Depression, Bradykinesia, Irritability, Memory impairment, ... |
ORPHA:306682 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Parkinsonism, Rigidity, Unsteady gait, Bab... |
OMIM:183090 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Bradykinesia, Blepharospas... |
ORPHA:53351 |
Neuroferritinopathy |
|
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Palatal tremor, Ch... |
ORPHA:157846 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Bradykinesia, Memory impairment, Rigidity |
ORPHA:306686 |
Late-Infantile/Juvenile Krabbe Disease |
|
Tremor, EEG with persistent abnormal rhythmic activity, Loss of ambulation, Ataxia, Clumsiness, I... |
ORPHA:206443 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Bradykinesia, Lethargy, Chorea, Ataxia |
OMIM:618683 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Abnormal autonomic nervous syst... |
OMIM:300894 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cog... |
ORPHA:70594 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, Abnormal adipose tissue morphology, Hyp... |
ORPHA:93160 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Akinesia, Parkinsonism, Tremor, Abn... |
ORPHA:240071 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle clonus, Hypertonia, Dystonia,... |
OMIM:617435 |
Hypermanganesemia With Dystonia 1 |
|
Hypermanganesemia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, St... |
OMIM:613280 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Dyst... |
OMIM:619911 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Hypophosphatemia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Familial Isolated Hyperparathyroidism |
|
Osteopenia, Hypercalcemia, Hypophosphatemia, Generalized osteoporosis, Chondrocalcinosis |
ORPHA:99879 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Weig... |
OMIM:168605 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Diabetes mellitus, Hypouricemia, Hypoglycemia, Large for gestational age, Rickets, Glycosuria, Hy... |
OMIM:616026 |
Cln3 Disease |
|
Extrapyramidal muscular rigidity, Ataxia, Mental deterioration, Optic atrophy, Depression, Bradyk... |
ORPHA:228346 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Bradykinesia, Lower limb spasticity, Attention deficit hyperactivity disorder |
OMIM:618878 |
Auditory Neuropathy, Autosomal Dominant 1 |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:609129 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... |
ORPHA:97355 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... |
OMIM:311510 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment |
OMIM:601071 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Hypocalcem... |
OMIM:600081 |
Vitamin D-Dependent Rickets, Type 2A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:277440 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity |
OMIM:613643 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Mental deterioration, Depression, Bradykinesia, Dementia,... |
OMIM:168601 |
Childhood-Onset Nemaline Myopathy |
|
Waddling gait, Flexion contracture, Clumsiness, Bradykinesia, Poor fine motor coordination, Facia... |
ORPHA:171439 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... |
OMIM:616881 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Recurrent fractures, Delayed epiphyseal ossification, Rickets, Irritability, Sparse bone trabecul... |
OMIM:264700 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Tremor, Abnormal pyramidal sign, Prelingual sensorineural he... |
ORPHA:52368 |
Parkinson Disease 14, Autosomal Recessive |
|
Elevated circulating creatine kinase concentration, Tremor, Hand tremor, Loss of ambulation, Eyel... |
OMIM:612953 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Head titubation, Rigidity, Gait ataxia, Choreo... |
OMIM:618877 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Short attention span, Resting tremor, Parkinsonism, Chorea, Babinski sign, Gait ataxia, Bradykine... |
ORPHA:225147 |
Deafness, Autosomal Recessive 104 |
|
Prelingual sensorineural hearing impairment, Absent brainstem auditory responses, Positive Romber... |
OMIM:616515 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Bradykinesia, Blepharospasm, Dementia, Falls, Cognit... |
ORPHA:683 |
Spinocerebellar Ataxia Type 8 |
|
Impaired vibratory sensation, Ataxia, Rigidity, Unsteady gait, Limb ataxia, Gait ataxia, Bradykin... |
ORPHA:98760 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Abnormal auto... |
OMIM:168600 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Rickets, Glycosuria, Hypophosphatemia |
OMIM:613388 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Dementia, Shuffling... |
ORPHA:171695 |
Fanconi-Bickel Syndrome |
|
Osteopenia, Hypertriglyceridemia, Diabetes mellitus, Impaired glucose tolerance, Rickets, Glycosu... |
ORPHA:2088 |
Spinocerebellar Ataxia Type 13 |
|
Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic atrophy, Limb ataxia, ... |
ORPHA:98768 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Bradykinesia, Poor fine motor coordination, Difficulty walking, Mildly eleva... |
ORPHA:171442 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Akinesia, Involuntary movements, Rigidity, Babinski sign, Abno... |
ORPHA:97349 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Recurrent fractures, Abnormal circulating calcium concentration, Delayed epiphyseal ossification,... |
OMIM:241530 |
Cystinosis |
|
Rickets, Abnormal pyramidal sign, Hypokalemia, Gait disturbance, Hypophosphatemia, Type I diabete... |
ORPHA:213 |
Ravine Syndrome |
|
Ataxia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, Failure to thrive |
ORPHA:99852 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Osteomalacia, Delayed epiphyseal ossification, Rickets, Increased susceptibility to fractures, Ir... |
ORPHA:289157 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hypouricemia, Osteomalacia, Rickets, Hypophosphatemia, Glyco... |
OMIM:227810 |
Autosomal Dominant Hypophosphatemic Rickets |
|
Hypocalcemia, Rickets, Osteomalacia, Hypophosphatemia |
ORPHA:89937 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Osteomalacia, Increased circulating beta-C-terminal telopeptide concentration, Red... |
ORPHA:157215 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Weight loss, Dementia... |
ORPHA:411602 |
3-Methylglutaconic Aciduria Type 1 |
|
Hypoglycemia, Spastic tetraparesis, Progressive cerebellar ataxia, Dystonia, Failure to thrive |
ORPHA:67046 |
Fanconi Renotubular Syndrome 1 |
|
Osteomalacia, Rickets, Hypophosphatemia, Hypokalemia, Glycosuria |
OMIM:134600 |
Autoimmune Hypoparathyroidism |
|
Increased bone mineral density, Confusion, Depression, Irritability, Hyperphosphatemia, Paresthes... |
ORPHA:36913 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Shuffling gait, Gait im... |
ORPHA:75567 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, ... |
ORPHA:320401 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... |
OMIM:606324 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Bradykinesia, Frontal lobe dementia, Dementia... |
ORPHA:2828 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Abnormal auditory evoked potentials, Impaired distal proprioception, Decreas... |
OMIM:601455 |
Linear Verrucous Nevus Syndrome |
|
Mental deterioration, Hypophosphatemia, Reduced bone mineral density |
ORPHA:2611 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Impaired proprioception, Abnormal pyramidal sign, Dysmetria,... |
ORPHA:99027 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Sensorineural heari... |
OMIM:617519 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Short attention span, Chorea, Babinski sign, Optic atrophy, Dysmetria, Gait ataxia, Bradykinesia,... |
OMIM:610217 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Sparse bone trabecul... |
OMIM:300554 |
Fanconi Renotubular Syndrome 5 |
|
Hypophosphatemic rickets, Glycosuria, Hypophosphatemia |
OMIM:618913 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
Rett Syndrome |
|
Increased serum pyruvate, Limb apraxia, Inability to walk, Hyperammonemia, Bradykinesia, EEG abno... |
ORPHA:778 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Hypoglycemia, Leucine-Induced |
|
Ataxia, Hypoglycemia, Irritability, Hyperinsulinemic hypoglycemia, Spasticity |
OMIM:240800 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Bradykinesia, Babinski sign, Hyperglycinemia |
OMIM:619063 |
Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Cortical irregularity, Antalgic gait, Osteomalacia, Hypercalcemia, Diabetes mel... |
ORPHA:249 |
Hypophosphatemic Rickets, X-Linked Dominant |
|
Osteomalacia, Abnormal circulating calcium concentration, Osteoarthritis, Enamel hypomineralizati... |
OMIM:307800 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Gait ataxia, Glucose intolerance, Hyp... |
ORPHA:254892 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Dysmetria, Gait ataxia, Bradykinesia, Depression, De... |
ORPHA:93256 |
Hypercalcemia, Infantile, 2 |
|
Failure to thrive, Hypercalcemia, Hypophosphatemia |
OMIM:616963 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori... |
OMIM:125250 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
EEG with generalized epileptiform discharges, Bradykinesia, Slowed slurred speech, Attention defi... |
OMIM:619827 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Refractory Celiac Disease |
|
Hypomagnesemia, Osteoporosis, Weight loss, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypop... |
ORPHA:398063 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Osteopenia, Hip contracture, Waddling gait, Hypercalcemia, Knee flexion contracture, Hypophosphat... |
OMIM:156400 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Broad-based gait, Somatic sensory dysfunction, At... |
ORPHA:206448 |
Dent Disease 1 |
|
Osteomalacia, Recurrent fractures, Delayed epiphyseal ossification, Rickets, Glycosuria, Sparse b... |
OMIM:300009 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Parkinsonism, Facial palsy, Impaired distal proprioception, Rigidity, Sensorineur... |
OMIM:157640 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Camptodactyly of finger, Hypoglycemia, Osteoporosis, Abnormal pyramidal sign, Dysmetria, ... |
ORPHA:48431 |
Hypocalciuric Hypercalcemia, Familial, Type Iii |
|
Hypercalcemia, Osteomalacia, Hypermagnesemia, Multiple lipomas, Hypophosphatemia, Chondrocalcinosis |
OMIM:600740 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Hypophosphatemic Rickets And Hyperparathyroidism |
|
Hypophosphatemic rickets, Rickets, Hypercalcemia, Hypophosphatemia |
OMIM:612089 |
Hyperinsulinism Due To Insr Deficiency |
|
Hypoglycemia, Insulin resistance, Fasting hyperinsulinemia, Abnormal circulating C-peptide concen... |
ORPHA:263458 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Progr... |
ORPHA:466722 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Hypoglycemia, Rigidity, Inability to walk, Optic atrophy, Athetosis, Irritability, Gait disturban... |
OMIM:618241 |
Dent Disease 2 |
|
Umbilical hernia, Elevated circulating creatine kinase concentration, Cognitive impairment, Hypop... |
OMIM:300555 |
Blue Diaper Syndrome |
|
Hypercalcemia, Increased body weight, Increased proinsulin:insulin ratio, Recurrent hypoglycemia,... |
ORPHA:94086 |
Oncogenic Osteomalacia |
|
Fibrous dysplasia of the bones, Increased susceptibility to fractures, Gait disturbance, Hypocalc... |
ORPHA:352540 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Classic Galactosemia |
|
Speech apraxia, Incoordination, Ataxia, Postural tremor, Hypoglycemia, Osteoporosis, Reduced bone... |
ORPHA:79239 |
Pseudopseudohypoparathyroidism |
|
Ectopic ossification, Hyperphosphatemia, Hypocalcemia, Obesity |
ORPHA:79445 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Dystonia, Abnormal blood inorganic cation concentration, Action tremor, Rigidity, Bradykinesia, P... |
ORPHA:309854 |
Pseudohypoparathyroidism Type 1B |
|
Calcinosis, Increased bone mineral density, Diaphyseal sclerosis, Depression, Irritability, Hyper... |
ORPHA:94089 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Abn... |
OMIM:146500 |
Huntington Disease-Like 3 |
|
Psychomotor deterioration, Broad-based gait, Extrapyramidal muscular rigidity, Chorea, Flexion co... |
ORPHA:157946 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Macular scar, Ankylosis, Hydroxy... |
OMIM:239000 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Short attention span, Confusion, Oculogyric crisis, Parkinsonism, Rigidity, Babin... |
ORPHA:306674 |
Calciphylaxis |
|
Ectopic ossification, Hyperphosphatemia, Cellulitis |
ORPHA:280062 |
Kenny-Caffey Syndrome, Type 2 |
|
Transient hypophosphatemia, Increased bone mineral density, Papilledema, Small for gestational ag... |
OMIM:127000 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3 |
|
Osteopenia, Hypercalcemia, Hyperphosphatemia, Calvarial osteosclerosis, Metacarpal periosteal thi... |
OMIM:617994 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Bradykinesia, ... |
OMIM:609454 |
Hypoinsulinemic Hypoglycemia With Hemihypertrophy |
|
Hypoglycemia, Large for gestational age, Obesity, Truncal obesity, Fasting hypoglycemia, Hypoinsu... |
OMIM:240900 |
Parkinson Disease 21 |
|
Bradykinesia, Parkinsonism, Rigidity, Tremor |
OMIM:616361 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Resting tremor, Rigidity, Parkinsonism |
OMIM:614251 |
Primary Fanconi Renotubular Syndrome |
|
Hypouricemia, Osteomalacia, Hypoglycemia, Bicarbonaturia, Increased susceptibility to fractures, ... |
ORPHA:3337 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Glycosuria, Hypophosphatemia |
OMIM:308990 |
X-Linked Hypophosphatemia |
|
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sensorineural hearing impairment, ... |
ORPHA:89936 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
Choreoacanthocytosis |
|
Elevated circulating creatine kinase concentration, Chorea, Oromandibular dystonia, Hypertonia, L... |
ORPHA:2388 |
Autosomal Recessive Hypophosphatemic Rickets |
|
Abnormal trabecular bone morphology, Increased bone mineral density, Renal hypophosphatemia, Oste... |
ORPHA:289176 |
Hypoparathyroidism, Familial Isolated, 2 |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:618883 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Progressive psychomotor deterioration, Abnormal pyramidal sign, Abnormal motor evoked... |
ORPHA:909 |
Hsd10 Mitochondrial Disease |
|
Elevated circulating tiglylglycine concentration, Hypoglycemia, Progressive neurologic deteriorat... |
OMIM:300438 |
Pseudohypoparathyroidism Type 1A |
|
Calcinosis, Increased bone mineral density, Confusion, Involuntary movements, Sensorineural heari... |
ORPHA:79443 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Head titubation, Increased circulating ferritin concentratio... |
ORPHA:3240 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Optic atrophy, Depression, Reduced bone mineral density, Hyperphosphatemia, Pares... |
ORPHA:428 |
Pseudohypoparathyroidism, Type Ic |
|
Osteoporosis, Obesity, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Enamel hypoplasia |
OMIM:612462 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha... |
OMIM:619743 |
Hyperinsulinemic Hypoglycemia, Familial, 7 |
|
Hyperinsulinemia, Hypoglycemia, Hypoglycemic seizures, Hyperinsulinemic hypoglycemia |
OMIM:610021 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Absent brainstem auditory responses, Diabetes mellitus, Ataxia, Sensorineural hearing impairment,... |
ORPHA:1215 |
Mccune-Albright Syndrome |
|
Osteomalacia, Recurrent fractures, Fibrous dysplasia of the bones, Polyostotic fibrous dysplasia,... |
ORPHA:562 |
Thyrotoxic Periodic Paralysis |
|
Episodic hypokalemia, Transient hypophosphatemia, Paralysis, Tremor, Hyperkalemia, Obesity, Tetra... |
ORPHA:79102 |
Pseudohypoparathyroidism, Type Ia |
|
Osteoporosis, Obesity, Subcutaneous ossification, Hyperphosphatemia, Hypocalcemic tetany, Enamel ... |
OMIM:103580 |
Infantile Nephropathic Cystinosis |
|
Rickets, Abnormal blood ion concentration, Glycosuria, Hypokalemia, Hypophosphatemia, Failure to ... |
ORPHA:411629 |
Pseudohypoparathyroidism Type 2 |
|
Calcinosis, Hyperphosphatemia, Paresthesia, Hypocalcemia, Myoclonic spasms, Hypocalcemic tetany, ... |
ORPHA:94090 |
3-Methylglutaconic Aciduria With Deafness, Encephalopathy, And Leigh-Like Syndrome |
|
Hypoglycemia, Inability to walk, Sensorineural hearing impairment, Optic atrophy, Hyperammonemia,... |
OMIM:614739 |
Pseudohypoparathyroidism Type 1C |
|
Calcinosis, Increased bone mineral density, Confusion, Obesity, Depression, Irritability, Hyperph... |
ORPHA:79444 |
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1 |
|
Calcinosis, Hyperostosis, Subperiosteal bone formation, Hyperphosphatemia, Enamel hypoplasia |
OMIM:211900 |
Dent Disease |
|
Renal hypophosphatemia, Osteomalacia, Recurrent fractures, Elevated circulating creatine kinase c... |
ORPHA:1652 |
Infantile Krabbe Disease |
|
Psychomotor deterioration, Lower limb spasticity, Prolonged brainstem auditory evoked potentials,... |
ORPHA:206436 |
Familial Hypocalciuric Hypercalcemia |
|
Renal hypophosphatemia, Hypercalcemia, Osteomalacia, Hypermagnesemia, Lipoma, Chondrocalcinosis, ... |
ORPHA:405 |
Raine Syndrome |
|
Increased bone mineral density, Mixed hearing impairment, Posteriorly rotated ears, Abnormal pinn... |
OMIM:259775 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Chvostek sign, Irritability, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures |
OMIM:146200 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Reduced bone mineral density, Hypocalcemia, Osteop... |
ORPHA:667 |
Pseudohypoparathyroidism, Type Ib |
|
Hyperphosphatemia, Hypocalcemia, Obesity |
OMIM:603233 |
Pseudohypoparathyroidism, Type Ii |
|
Hyperphosphatemia, Hypocalcemia |
OMIM:203330 |
Hyperparathyroidism, Neonatal Severe |
|
Calcinosis, Hypercalcemia, Recurrent fractures, Hypophosphatemia, Failure to thrive |
OMIM:239200 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babinski sign, Bradyk... |
OMIM:614924 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Progressive neurologic deterioration, Large for gestational age, Abnormal circulating fatty-acid ... |
ORPHA:263455 |
Hereditary Fructose Intolerance |
|
Reactive hypoglycemia, Hypermagnesemia, Hyperuricemia, Hypophosphatemia, Lethargy |
ORPHA:469 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia |
ORPHA:2239 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Posteriorly rotated ears, Patchy osteosclerosis, Hyperphosphatemia, Hypocalcemia, Low-set ears, H... |
OMIM:241410 |
Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Failure to thrive, Small for gestational age, Rec... |
OMIM:193700 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Absent brainstem auditory responses, Foot joint contracture, Ataxia, Scarr... |
ORPHA:90321 |
Colchicine Poisoning |
|
Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo... |
ORPHA:31824 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hypoammonemia, Clonus, Protruding ear, Hyponatremia, Low-set, posteriorly rotated ears, Osteomala... |
ORPHA:534 |
Parathyroid Carcinoma |
|
Hypercalcemia, Osteoporosis, Weight loss, Hypophosphatemia, Lipoma, Chondrocalcinosis |
ORPHA:143 |
Malignant Hyperthermia, Susceptibility To, 2 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154275 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia |
OMIM:601198 |
Pyruvate Carboxylase Deficiency |
|
Increased serum pyruvate, Hypoglycemia, Clonus, Athetosis, Hyperalaninemia |
OMIM:266150 |
Sanjad-Sakati Syndrome |
|
Low-set, posteriorly rotated ears, Abnormal dental enamel morphology, Patchy osteosclerosis, Exte... |
ORPHA:2323 |
Malignant Hyperthermia, Susceptibility To, 3 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:154276 |
Cystinosis, Nephropathic |
|
Hyponatremia, Diabetes mellitus, Failure to thrive in infancy, Rickets, Reduced blood urea nitrog... |
OMIM:219800 |
Juvenile Nephropathic Cystinosis |
|
Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Glycosuria, Hypokalemi... |
ORPHA:411634 |
Neuroleptic Malignant Syndrome |
|
Hyponatremia, Extrapyramidal muscular rigidity, Elevated circulating creatine kinase concentratio... |
ORPHA:94093 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Optic disc pallor, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment,... |
OMIM:619260 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Hypercalcemia, Osteoporosis, Hypophosphatemia, Lipoma, Chondrocalcinosis |
ORPHA:99880 |
Abcd Syndrome |
|
Aganglionic megacolon, Abnormal auditory evoked potentials, Large for gestational age, Total inte... |
OMIM:600501 |
Pearson Syndrome |
|
Diabetes mellitus, Ataxia, Small for gestational age, Hypophosphatemia, Glycosuria, Hypokalemia, ... |
ORPHA:699 |
Uremic Pruritus |
|
Renal hypophosphatemia, Hypercalcemia, Hypermagnesemia, Depression, Increased blood urea nitrogen |
ORPHA:94059 |
Fructose Intolerance, Hereditary |
|
Hypoglycemia, Bicarbonaturia, Glycosuria, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia, Le... |
OMIM:229600 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration |
OMIM:145600 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag... |
OMIM:609136 |
Alport Syndrome 3A, Autosomal Dominant |
|
Azotemia, Sensorineural hearing impairment, Hearing impairment, Hypophosphatemia |
OMIM:104200 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal pinna morphology, Abnormal... |
OMIM:216400 |
Opsismodysplasia |
|
Posteriorly rotated ears, Low-set ears, Hypophosphatemia |
OMIM:258480 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Ataxia, Small for gestational age, Abnormal auditory evoked ... |
OMIM:133540 |
Chronic Bilirubin Encephalopathy |
|
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Cerebral palsy, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Hypertonia... |
ORPHA:529799 |
Acrodysostosis 1 With Or Without Hormone Resistance |
|
Small for gestational age, Neonatal epiphyseal stippling, Optic atrophy, Epiphyseal stippling, Hy... |
OMIM:101800 |
Genetic Recurrent Myoglobinuria |
|
Hyperkalemia, Highly elevated creatine kinase, Hyperphosphatemia, Hypocalcemia, Difficulty walking |
ORPHA:99845 |
Autosomal Dominant Kenny-Caffey Syndrome |
|
Papilledema, Cortical thickening of long bone diaphyses, Hyperphosphatemia, Hypocalcemic tetany, ... |
ORPHA:93325 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Frequent falls, Abnormal auditory evoked potentials |
OMIM:617523 |
Polyendocrine-Polyneuropathy Syndrome |
|
Ataxia, Hypoglycemia, Abnormal pyramidal sign, Progressive hearing impairment, Type II diabetes m... |
ORPHA:453533 |
Polyendocrine-Polyneuropathy Syndrome |
|
Hypoglycemia, Ataxia, Elevated hemoglobin A1c, Progressive hearing impairment, Dystonia, Type I d... |
OMIM:616113 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Exercise-Induced Malignant Hyperthermia |
|
Ataxia, Confusion, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphospha... |
ORPHA:466650 |
Trisomy 10P |
|
Poor motor coordination, Small for gestational age, Abnormal auditory evoked potentials, Posterio... |
ORPHA:171929 |
Malignant Hyperthermia Of Anesthesia |
|
Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia |
ORPHA:423 |
Mogs-Cdg |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Optic atrophy, Dystonia |
ORPHA:79330 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Elevated 8-dehydrocholesterol, Elevated 8(9)-cholestenol, Lo... |
ORPHA:401973 |
Hemorrhagic Fever-Renal Syndrome |
|
Confusion, Hyperkalemia, Elevated circulating creatinine concentration, Hyperphosphatemia, Decrea... |
ORPHA:340 |
Deafness, Autosomal Recessive 120 |
|
Sensorineural hearing impairment |
OMIM:620238 |