| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
| Episodic Ataxia, Type 1 |
|
Spastic gait, Episodic ataxia, Incoordination, Babinski sign, Slurred speech, Tremor |
OMIM:160120 |
| Spinocerebellar Ataxia Type 15/16 |
|
Gait ataxia, Tremor by anatomical site, Upper limb postural tremor, Ataxia, Head tremor, Action t... |
ORPHA:98769 |
| Spinocerebellar Ataxia 40 |
|
Gait ataxia, Ankle clonus, Dysdiadochokinesis, Ataxia, Intention tremor, Spastic paraparesis, Dys... |
OMIM:616053 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Slurred speech, Tremor |
ORPHA:401953 |
| Polycystic Kidney Disease 5 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia, Hepatosplenomegaly,... |
OMIM:617610 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait disturban... |
OMIM:614561 |
| Primary Orthostatic Tremor |
|
Abnormality of extrapyramidal motor function, Tremor |
ORPHA:238606 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Spastic gait, Hand tremor, Babinski sign, Lower limb spasticity |
ORPHA:401840 |
| Spinocerebellar Ataxia 20 |
|
Gait ataxia, Abnormal pyramidal sign, Postural tremor, Palatal tremor, Limb ataxia, Action tremor |
OMIM:608687 |
| Neuronopathy, Distal Hereditary Motor, Type Viia |
|
Vocal cord paresis, Tremor, Difficulty walking, Vocal cord paralysis |
OMIM:158580 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Resting tremor |
OMIM:619491 |
| Spinocerebellar Ataxia 37 |
|
Unsteady gait, Tremor, Frequent falls, Ataxia |
OMIM:615945 |
| Tremor, Hereditary Essential, 6 |
|
Vocal tremor, Head tremor, Kinetic tremor, Postural tremor |
OMIM:618866 |
| Primary Dystonia, Dyt27 Type |
|
Writer's cramp, Limb dystonia, Upper limb postural tremor, Focal dystonia, Axial dystonia, Action... |
ORPHA:464440 |
| Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Gait disturbance, Kinetic tremor |
OMIM:611808 |
| Dystonia 27 |
|
Postural tremor, Writer's cramp, Limb dystonia, Torticollis, Action tremor, Oromandibular dystoni... |
OMIM:616411 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Hyperkinetic movements, Unsteady gait |
OMIM:616921 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Progressive spastic paraplegia, Abnormal pulmonary interstitial morphology, Nephrotic syndrome, H... |
ORPHA:401835 |
| X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Abnormal pyramidal sign, Difficulty walking, Postural tremor |
ORPHA:85292 |
| Spinocerebellar Ataxia 43 |
|
Gait ataxia, Rigidity, Limb ataxia, Ataxia, Tremor |
OMIM:617018 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Ataxia, Action tremor, Frequent falls, Action myoclonus |
OMIM:614937 |
| Acrocapitofemoral Dysplasia |
|
Short tibia, Flared iliac wing, Short proximal phalanx of finger, Short femur, Enlargement of the... |
OMIM:607778 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor, Difficulty walking |
ORPHA:423296 |
| Tremor, Hereditary Essential, 1 |
|
Hand tremor, Action tremor, Postural tremor |
OMIM:190300 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Hemiballismus, Tremor, Frequent falls, Unsteady gait |
ORPHA:494526 |
| Hepatorenocardiac Degenerative Fibrosis |
|
Cirrhosis, Renal interstitial fibrosis, Enlarged kidney, Jaundice, Hypersplenism, Hepatocellular ... |
OMIM:619902 |
| Acromesomelic Dysplasia 2A |
|
Short tibia, Short phalanx of finger, Flexion contracture, Aplasia/Hypoplasia involving the metac... |
OMIM:200700 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Parkinsonism with favorable response to dopaminergic medication, Torsion dysto... |
OMIM:314250 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Myoclonus, Lim... |
OMIM:605407 |
| Dystonia 23 |
|
Writer's cramp, Limb dystonia, Torticollis, Myoclonus, Gait disturbance, Head tremor, Axial dystonia |
OMIM:614860 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Spasticity, Tremor, Ataxia, Babinski sign |
OMIM:611105 |
| Spinocerebellar Ataxia Type 31 |
|
Gait ataxia, Spasticity, Tremor |
ORPHA:217012 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Loss of ambulation, Tremor, Fasciculations |
OMIM:182980 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Gait disturbance, Tremor, Dystonia, Bradykinesia |
OMIM:600116 |
| Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
| Primary Dystonia, Dyt13 Type |
|
Postural tremor, Limb dystonia, Torticollis, Focal dystonia, Torsion dystonia, Action tremor, Cra... |
ORPHA:98807 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Parkinsonism, Rigidity, Abnormality of extrapyramidal motor function, Parkinsonism with favorable... |
OMIM:260300 |
| Rhizomelic Chondrodysplasia Punctata, Type 3 |
|
Rhizomelia, Epiphyseal stippling, Short femur, Failure to thrive, Short humerus |
OMIM:600121 |
| Urocanase Deficiency |
|
Gait ataxia, Truncal ataxia, Ataxia, Dysmetria, Action tremor, Urocanic aciduria, Broad-based gait |
OMIM:276880 |
| Spinocerebellar Ataxia Type 20 |
|
Gait ataxia, Abnormal pyramidal sign, Tremor by anatomical site, Upper limb postural tremor, Atax... |
ORPHA:101110 |
| Immunodeficiency, Common Variable, 6 |
|
Nephrotic range proteinuria, Stage 5 chronic kidney disease, Enlarged kidney, Mesangial Immune co... |
OMIM:613496 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Torticollis, Ataxia, Tremor, Hyperkinetic movements, Dystonia |
OMIM:618425 |
| Parkinson Disease 22, Autosomal Dominant |
|
Bradykinesia, Tremor, Gait disturbance, Resting tremor |
OMIM:616710 |
| Spinocerebellar Ataxia Type 37 |
|
Falls, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Gait disturbance, Tremor, Cogwheel rigidity... |
ORPHA:363710 |
| Spinocerebellar Ataxia Type 12 |
|
Poor fine motor coordination, Abnormal pyramidal sign, Tremor by anatomical site, Postural tremor... |
ORPHA:98762 |
| Dystonia 16 |
|
Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Torticollis, Unsteady gait... |
ORPHA:210571 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Postural tremor, Torticollis, Myoclonus, Kinetic tremor, Involuntary movements |
OMIM:611092 |
| X-Linked Non Progressive Cerebellar Ataxia |
|
Truncal ataxia, Clumsiness, Spastic dysarthria, Babinski sign, Intention tremor, Action tremor, F... |
ORPHA:314978 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Parkinsonism, Rigidity, Myoclonus, Upper motor neuron dysfunction, Ataxia, Tremor, Dystonia |
ORPHA:401901 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:612437 |
| Sandhoff Disease, Adult Form |
|
Gait ataxia, Spasticity, Focal dystonia, Tremor, Dystonia, Fasciculations |
ORPHA:309169 |
| Melorheostosis With Osteopoikilosis |
|
Multiple lipomas, Abnormal cortical bone morphology, Osteopoikilosis, Complete duplication of the... |
ORPHA:1879 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Unsteady gait |
OMIM:617917 |
| Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Leukopenia, Anemia, Enlarged kidney, Hepatomegaly, Extramedullary hematopoiesis, Thrombocytopenia... |
OMIM:615285 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Gait ataxia, Spasticity, Spastic ataxia, Babinski sign, Dysmetria, Tremor, Frequent falls, Head t... |
OMIM:611302 |
| Spinocerebellar Ataxia Type 40 |
|
Gait ataxia, Dysdiadochokinesis, Intention tremor, Spastic paraparesis, Dysmetria, Unsteady gait,... |
ORPHA:423275 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Difficulty walking, Involunt... |
ORPHA:99657 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Urinary incontinence, Urinary bladder sphincter dysfunction, Spastic gait, Urinary urgency, Spast... |
OMIM:600363 |
| Spinocerebellar Ataxia, X-Linked 5 |
|
Action tremor, Ataxia |
OMIM:300703 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Ankle clonus, Truncal ataxia, Limb ataxia, Babinski sign, Tremor, Unsteady gait |
OMIM:615768 |
| Cyanide-Induced Parkinsonism-Dystonia |
|
Shuffling gait, Resting tremor, Parkinsonism, Falls, Rigidity, Short stepped shuffling gait, Brad... |
ORPHA:306692 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Elevated urinary 7-biopterin level, Hypertonia |
OMIM:264070 |
| Corticobasal Syndrome |
|
Limb myoclonus, Speech apraxia, Akinesia, Parkinsonism, Limb dystonia, Limb apraxia, Myoclonus, G... |
ORPHA:454887 |
| Spinocerebellar Ataxia 38 |
|
Gait ataxia, Myoclonus, Limb ataxia, Ataxia, Tremor |
OMIM:615957 |
| Dystonia, Dopa-Responsive |
|
Gait ataxia, Spasticity, Dysdiadochokinesis, Postural tremor, Writer's cramp, Resting tremor, Tor... |
OMIM:128230 |
| Chondrodysplasia, Lethal, With Long Bone Angulation And Mixed Bone Density |
|
Short tibia, Absent ossification of thoracic vertebral bodies, Hypoplasia of the radius, Lytic de... |
OMIM:601376 |
| Dystonia 28, Childhood-Onset |
|
Retrocollis, Spasticity, Tip-toe gait, Torticollis, Myoclonus, Gait disturbance, Tremor, Craniofa... |
OMIM:617284 |
| Lichtenstein-Knorr Syndrome |
|
Gait ataxia, Dysdiadochokinesis, Limb ataxia, Ataxia, Dysmetria, Action tremor |
OMIM:616291 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Torticollis, Myoclonus, Ataxia, Babinski sign, ... |
OMIM:607317 |
| Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Difficulty walking, Fasciculations |
OMIM:615048 |
| Congenital Megacalycosis |
|
Tubulointerstitial nephritis, Dilatation of renal calices, Recurrent urinary tract infections, En... |
ORPHA:93109 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia |
OMIM:300911 |
| Fibular Hemimelia |
|
Short tibia, Hip subluxation, Limited knee flexion/extension, Hypoplastic acetabulae, Toe syndact... |
ORPHA:93323 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Parkinsonism, Rigidity... |
OMIM:213600 |
| Tibial Aplasia-Ectrodactyly Syndrome |
|
Aplasia/Hypoplasia of the tibia, Preaxial hand polydactyly, Finger syndactyly, Patellar aplasia, ... |
ORPHA:3329 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Myoclonus, Parkinsonism with favorable response to dopaminergic medica... |
ORPHA:314632 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Abnormal pyramidal sign, Myoclonus, Ataxia, Tremor, Tetraparesis, Hepatomegaly, Dystonia |
OMIM:615924 |
| Urocanic Aciduria |
|
Gait ataxia, Truncal ataxia, Ataxia, Action tremor, Urocanic aciduria, Broad-based gait |
ORPHA:210128 |
| Parkinson Disease 17 |
|
Resting tremor, Akinesia, Rigidity, Parkinsonism, Tremor, Bradykinesia |
OMIM:614203 |
| Rhizomelic Dysplasia, Ain-Naz Type |
|
Rhizomelia, Short femoral neck, Wide distal femoral metaphysis, Hip dysplasia, Short femur, Hypop... |
OMIM:619598 |
| Tremor, Hereditary Essential, 4 |
|
Action tremor, Postural tremor |
OMIM:614782 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Ankle clonus, Parkinsonism, Babinski sign, Scissor gait, Loss of ambulation, Tremor, ... |
ORPHA:521406 |
| Spinocerebellar Ataxia, X-Linked 1 |
|
Abnormality of extrapyramidal motor function, Ataxia, Action tremor, Unsteady gait, Intention tremor |
OMIM:302500 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Chorea, Spasticity, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Clumsiness, G... |
ORPHA:216873 |
| Parkinson Disease 19A, Juvenile-Onset |
|
Spasticity, Abnormal pyramidal sign, Shuffling gait, Limb hypertonia, Parkinsonism, Rigidity, Los... |
OMIM:615528 |
| Femoral-Facial Syndrome |
|
Aplasia/Hypoplasia of the tibia, Coxa vara, Micrognathia, Hip dysplasia, Maternal diabetes, Preax... |
ORPHA:1988 |
| X-Linked Dystonia-Parkinsonism |
|
Chorea, Blepharospasm, Aspiration pneumonia, Shuffling gait, Resting tremor, Limb dystonia, Myocl... |
ORPHA:53351 |
| Spinocerebellar Ataxia 18 |
|
Dysdiadochokinesis, Progressive gait ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:607458 |
| Nephronophthisis 16 |
|
Periportal fibrosis, Stage 5 chronic kidney disease, Enlarged kidney, Polycystic kidney dysplasia... |
OMIM:615382 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:610297 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Gait ataxia, Urinary incontinence, Abnormal pyramidal sign, Dysdiadochokinesis, Oculomotor apraxi... |
OMIM:617145 |
| Spinocerebellar Ataxia Type 28 |
|
Gait ataxia, Spasticity, Parkinsonism, Rigidity, Limb dystonia, Limb ataxia, Babinski sign, Head ... |
ORPHA:101109 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function, My... |
ORPHA:79262 |
| Aicardi-Goutieres Syndrome 6 |
|
Hemolytic anemia, Rigidity, Loss of ambulation, Tremor, Hepatomegaly, Thrombocytopenia, Dystonia,... |
OMIM:615010 |
| Obesity |
|
Decreased resting energy expenditure, Obesity, Increased waist to hip ratio |
OMIM:601665 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Limb myoclonus, Inability to walk, Recurrent aspiration pneumonia, Eyelid myoclonus, Clumsiness, ... |
ORPHA:2590 |
| Atypical Juvenile Parkinsonism |
|
Gait ataxia, Abnormal pyramidal sign, Shuffling gait, Inability to walk, Akinesia, Resting tremor... |
ORPHA:391411 |
| Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension |
|
Patellar hypoplasia, Patellar aplasia, Patellar dislocation, Coxa vara, Micrognathia, Flat capita... |
OMIM:147891 |
| Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Gait ataxia, Spasticity, Hepatic fibrosis, Limb ataxia, Hepatic bridging fibrosis, Tremor, Freque... |
OMIM:616719 |
| Ghosal Hematodiaphyseal Dysplasia |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:1802 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Parkinsonism, Rigidity, Apraxia, Gait disturbance, Babinski sign, Impaired tan... |
OMIM:300423 |
| Osteochondrosis Of The Metatarsal Bone |
|
Pedal edema, Abnormality of the fifth metatarsal bone, Flattened metatarsal heads, Sclerosis of f... |
ORPHA:564003 |
| Dystonia 12 |
|
Parkinsonism, Torticollis, Tremor, Unsteady gait, Dystonia, Bradykinesia |
OMIM:128235 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Choreoathetosis, Ataxia, Reticulocytosis, Tremor, Dystonia, Splenomegaly |
OMIM:612126 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Spastic gait, Spastic dysarthria, Limb ataxia, Spastic paraplegia, Babinski sign,... |
ORPHA:251282 |
| Migraine, Familial Hemiplegic, 1 |
|
Hemiplegia, Hemiparesis, Tremor, Ataxia |
OMIM:141500 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Myoclonus, Tremor, Difficulty walking |
OMIM:613608 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting ... |
OMIM:607688 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Myoclonus, Tremor, Dystonia, Frequent falls |
OMIM:619647 |
| Spinocerebellar Ataxia 12 |
|
Dysdiadochokinesis, Parkinsonism, Dysmetria, Head tremor, Axial dystonia, Action tremor, Progress... |
OMIM:604326 |
| Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Rigidity, Oculomotor apraxia, Spastic dysarthria,... |
ORPHA:240094 |
| Autosomal Spastic Paraplegia Type 58 |
|
Gait ataxia, Chorea, Erratic myoclonus, Spasticity, Spastic ataxia, Tip-toe gait, Abnormal pyrami... |
ORPHA:397946 |
| Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease |
|
Pancreatic cysts, Hepatic fibrosis, Multiple small medullary renal cysts, Hepatic cysts, Periport... |
OMIM:263200 |
| Spinocerebellar Ataxia Type 14 |
|
Gait ataxia, Rigidity, Myoclonus, Limb ataxia, Tremor, Progressive cerebellar ataxia |
ORPHA:98763 |
| Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Inability to walk, Gait disturbance, Upper motor neuron dysfunction, Tremor, Tongue fasciculation... |
ORPHA:276435 |
| Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Dysdiadochokinesis, Sideroblastic anemia, Babinski sign, Intention tremor, Hypochromic microcytic... |
OMIM:301310 |
| Spinocerebellar Ataxia 48 |
|
Gait ataxia, Urinary incontinence, Chorea, Parkinsonism, Ataxia, Babinski sign, Dysmetria, Tremor... |
OMIM:618093 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Ataxia, Impaired tandem gait, Dysmetria, Tremor, Lower limb spasticity |
OMIM:619028 |
| Myopathy, spheroid body |
|
Tremor, Broad-based gait, Waddling gait |
OMIM:182920 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Myoclonus, Ataxia, Loss of ambulation, Tremor, Difficulty walking |
OMIM:614018 |
| Nephronophthisis 2 |
|
Stage 5 chronic kidney disease, Enlarged kidney, Pulmonary hypoplasia, Absence of renal corticome... |
OMIM:602088 |
| Dystonia 11, Myoclonic |
|
Writer's cramp, Torticollis, Tremor, Myoclonus |
OMIM:159900 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Oculogyric crisis, Incoordination, Ataxia, Trem... |
OMIM:618049 |
| Optic Atrophy 3, Autosomal Dominant |
|
Abnormality of extrapyramidal motor function, Tremor |
OMIM:165300 |
| Familial Dyskinesia And Facial Myokymia |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Difficulty walking, Dystonia |
ORPHA:324588 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Dystonia, Bradykinesia |
OMIM:605909 |
| Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Flexion contracture, Fractured radius, Short ribs, Small for gestational age, Micrognathia, Short... |
OMIM:616897 |
| Atelosteogenesis Type Ii |
|
Short phalanx of finger, Micrognathia, Elbow flexion contracture, Camptodactyly, Metatarsus adduc... |
ORPHA:56304 |
| Hypoplastic Femurs And Pelvis |
|
Hypoplastic pelvis, Short femur |
OMIM:619545 |
| Spinocerebellar Ataxia 23 |
|
Gait ataxia, Limb ataxia, Babinski sign, Dysmetria, Tremor |
OMIM:610245 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Writer's cramp, Limb dystonia, Torticollis, Torsion dystonia, Tremor, Oromandibula... |
OMIM:607671 |
| Spinocerebellar Ataxia 42 |
|
Urinary incontinence, Abnormal pyramidal sign, Spastic ataxia, Spastic gait, Urinary urgency, Ata... |
OMIM:616795 |
| Eiken Syndrome |
|
Short phalanx of finger, Thin bony cortex, Broad foot, Short toe, Abnormal bone ossification, Met... |
ORPHA:79106 |
| Renal-Hepatic-Pancreatic Dysplasia 2 |
|
Asplenia, Hepatic fibrosis, Enlarged kidney, Cystic renal dysplasia, Abnormal lung lobation, Pulm... |
OMIM:615415 |
| Dystonia 16 |
|
Retrocollis, Abnormal pyramidal sign, Postural tremor, Parkinsonism, Limb dystonia, Gait disturba... |
OMIM:612067 |
| Spinocerebellar Ataxia Type 27 |
|
Gait ataxia, Akinesia, Truncal ataxia, Limb ataxia, Gait disturbance, Hand tremor, Tremor, Diffic... |
ORPHA:98764 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus, Ataxia, Babinski sign, Tremor |
OMIM:615362 |
| Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Postural tremor, Progressive gait ataxia, Oculomotor apraxia, Clumsiness, Limb ataxia, Babinski s... |
ORPHA:284324 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Gait ataxia, Spasticity, Limb ataxia, Incoordination, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:213200 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Choreoathetosis, Tremor, Hypertonia, Dystonia |
OMIM:261630 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Gait ataxia, Inability to walk, Rigidity, Gait disturbance, Dysmetria, Tremor |
OMIM:618090 |
| Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
| Metaphyseal Dysplasia, Braun-Tinschert Type |
|
Thin bony cortex, Broad tibial metaphyses, Increased bone mineral density, Broad femoral head, Fi... |
ORPHA:85188 |
| Aa Amyloidosis |
|
Nephrotic syndrome, Acute kidney injury, Enlarged kidney, Abnormality of the kidney, Nephropathy,... |
ORPHA:85445 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Gait ataxia, Ataxia, Dysmetria, Tremor, Steppage gait |
OMIM:618387 |
| Spinocerebellar Ataxia 7 |
|
Chorea, Spasticity, Abnormality of extrapyramidal motor function, Babinski sign, Dysmetria, Tremo... |
OMIM:164500 |
| Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Asplenia, Biliary cirrhosis, Renal dysplasia, Pulmonary hypoplasia, Malformation of the hepatic d... |
OMIM:208540 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Abnormal pyramidal sign, Falls, Tremor by anatomical site, Parkinsonism, Rigidity,... |
ORPHA:99750 |
| Brachial Amelia, Cleft Lip, And Holoprosencephaly |
|
Omphalocele, Amelia, Foot oligodactyly, Short femur |
OMIM:601357 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Myoclonus, Tremor |
OMIM:615127 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Pneumothorax, Parkinsonism, Ataxia, Tremor, Action tremor, Hypertonia, Hyperkinetic movem... |
OMIM:619738 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Aspiration pneumonia, Inability to walk, Limb fasciculations, Tremor, Abnormality of the urinary ... |
ORPHA:90117 |
| Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development |
|
Short tibia, Absent thumb, Short femur, Hypoplasia of the ulna, Aplasia/Hypoplasia of the radius,... |
OMIM:612447 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Ataxia, Dysmetria, Loss of ambulation, Tremor, Lower limb spasticity, Dystonia |
OMIM:617916 |
| Pelviscapular Dysplasia |
|
Mesomelic leg shortening, Hypoplastic ilia, Humeroradial synostosis, Elbow flexion contracture, S... |
ORPHA:93333 |
| Hypermanganesemia With Dystonia 1 |
|
Poor fine motor coordination, Cirrhosis, Parkinsonism, Rigidity, Abnormality of extrapyramidal mo... |
OMIM:613280 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Chorea, Abnormal pyramidal sign, Parkinsonism, Rigidity, Limb dystonia, Oculogyric crisis, Tremor... |
OMIM:613135 |
| Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome |
|
Dumbbell-shaped long bone, Rhizomelia, Micrognathia, Femoral bowing, Short femur, Brachydactyly, ... |
ORPHA:440354 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Postural tremor, Resting tremor, Akinesia, Clumsiness, Parkinsonism, Rigidity, Freezing of gait, ... |
OMIM:619911 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Gait ataxia, Urinary incontinence, Spasticity, Hemiballismus, Inability to walk, Parkinsonism, Tr... |
OMIM:618877 |
| Spinocerebellar Ataxia 50 |
|
Chorea, Postural tremor, Apraxia, Myoclonus, Ataxia, Head tremor, Action tremor |
OMIM:620158 |
| Dystonia 24 |
|
Blepharospasm, Torticollis, Head tremor, Oromandibular dystonia, Limb tremor, Arm dystonia |
OMIM:615034 |
| Weismann-Netter Syndrome |
|
Abnormality of the humerus, Tibial bowing, Abnormal cortical bone morphology, Femoral bowing, Abn... |
ORPHA:3344 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Limb dystonia, Torticollis, Myoclonus, Hand tremor, Upper limb postural tremor, Or... |
ORPHA:420485 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Sclerosteosis |
|
Finger syndactyly, 2-3 finger syndactyly, Increased bone mineral density, Curved distal phalanges... |
ORPHA:3152 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Limb myoclonus, Abnormal pyramidal sign, Rigidity, Limb apraxia, Apraxia, Parkinsonism with favor... |
ORPHA:240103 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Hemiparesis, Tremor, Difficulty walking, Dystonia, Bradykinesia |
ORPHA:306669 |
| Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Rigidity, Myoclonus, Choreoathetosis, Gait disturbance, A... |
ORPHA:391417 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:101075 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Genu valgum, Upper limb undergrowth, Short femoral neck, Short long bone, Abnormal foot morpholog... |
ORPHA:94068 |
| Renal Dysplasia |
|
Vesicovaginal fistula, Congenital posterior urethral valve, Moderate proteinuria, Abnormal renal ... |
ORPHA:93108 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Gait ataxia, Chorea, Truncal ataxia, Myoclonus, Tremor |
OMIM:618587 |
| X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Inability to walk, Gait disturbance, Spastic paraparesis, Tremor, Difficulty walking |
ORPHA:101077 |
| Hyperostosis Corticalis Generalisata |
|
Cranial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Diaphyseal t... |
ORPHA:3416 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Nephroblastoma, Enlarged kidney, Pulmonary cyst |
OMIM:618272 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:101078 |
| Osteogenesis Imperfecta, Type X |
|
Dentinogenesis imperfecta, Thin bony cortex, Genu valgum, Rhizomelia, Micrognathia, Micromelia, S... |
OMIM:613848 |
| Neuroectodermal Melanolysosomal Disease |
|
Spasticity, Rigidity, Ataxia, Tremor, Hypertonia, Recurrent respiratory infections |
ORPHA:33445 |
| Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Myoclonus, Tremor, Difficulty walking, Frequent falls, Tongue fasciculations, Recurrent respirato... |
OMIM:159950 |
| Spinocerebellar Ataxia 15 |
|
Gait ataxia, Postural tremor, Truncal ataxia, Limb ataxia, Action tremor |
OMIM:606658 |
| Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor |
|
Thin bony cortex, Generalized bone demineralization, Genu valgum, Metaphyseal irregularity, Genu ... |
OMIM:600785 |
| Epilepsy, Familial Adult Myoclonic, 5 |
|
Myoclonus, Tremor |
OMIM:615400 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Falls, Rigidity, Parkinsonism with favorable response to dopaminergic medication, Tremor, Dystoni... |
ORPHA:240085 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Chorea, Limb hypertonia, Resting tremor, Myoclonus, Choreoathetosis, Paroxysmal dyskinesia, Invol... |
OMIM:606703 |
| Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Gait ataxia, Postural tremor, Urinary urgency, Oculomotor apraxia, Clumsiness, Limb ataxia, Ataxi... |
OMIM:609270 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Ankle clonus, Resting tremor, Babinski sign, Spastic paraparesis, Scissor gait, Cogwh... |
ORPHA:363654 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Chorea, Spasticity, Blepharospasm, Parkinsonism, Writer's cramp, Rigidity, Choreoathetosis, Ataxi... |
OMIM:606159 |
| Proteus Syndrome |
|
Multiple lipomas, Thin bony cortex, Hypertrophy of skin of soles, Facial hyperostosis, Lipoma, Ca... |
OMIM:176920 |
| Glutathionuria |
|
Urinary incontinence, Dysdiadochokinesis, Glutathionuria, Tremor, Action tremor |
OMIM:231950 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612716 |
| Congenital Disorder Of Glycosylation, Type Ig |
|
Short tibia, Rhizomelia, Short ribs, Small for gestational age, Hypoplasia of the radius, Short f... |
OMIM:607143 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Poor fine motor coordination, Chorea, Spasticity, Myoclonic spasms, Clumsiness, Myoclonus, Ataxia... |
ORPHA:79263 |
| Cystathioninuria |
|
Tremor, Nephrolithiasis, Cystathioninuria |
ORPHA:212 |
| Xeroderma Pigmentosum, Complementation Group G |
|
Spasticity, Tremor, Ataxia |
OMIM:278780 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Rigidity, Parkinsonism with favorable response to... |
OMIM:606324 |
| Kufor-Rakeb Syndrome |
|
Spasticity, Akinesia, Parkinsonism, Rigidity, Torticollis, Paraparesis, Gait disturbance, Parkins... |
OMIM:606693 |
| Endosteal Hyperostosis, Worth Type |
|
Craniofacial hyperostosis, Abnormal cortical bone morphology, Generalized osteosclerosis, Clavicu... |
ORPHA:2790 |
| Atelosteogenesis, Type I |
|
Vertebral hypoplasia, Micrognathia, Distal tapering femur, Short femur, Limb undergrowth, Knee di... |
OMIM:108720 |
| Mucopolysaccharidosis-Plus Syndrome |
|
Renal tubular atrophy, Leukopenia, Anemia, Neutropenia, Inability to walk, Nephrotic syndrome, En... |
OMIM:617303 |
| Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Ataxia, Hypertonia |
ORPHA:1368 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Rigidity, Ataxia, Tremor, Dystonia, Bradykinesia |
OMIM:617836 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Ankle clonus, Tip-toe gait, Inability to walk, Parkinsonism, Limb dystonia, Clumsines... |
OMIM:617013 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Akinesia, Rigidity, Abnormality of extrapyramidal motor function, Tremor, Progressiv... |
ORPHA:98773 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Titubation, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:619405 |
| Dystonia 34, Myoclonic |
|
Writer's cramp, Torticollis, Myoclonus, Hand tremor, Impaired tandem gait, Head tremor, Dystonia |
OMIM:619724 |
| Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Gait ataxia, Glomerulopathy, Postural tremor, Nephrotic syndrome, Myoclonus, Pleural effusion, Ne... |
OMIM:254900 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Shuffling gait, Dysdiadochokinesis, Parkinsonism, Limb dystonia, Oculogyric crisis, Gait disturba... |
ORPHA:352649 |
| Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Writer's cramp, Torticollis, Myoclonus, Focal dystonia, Head tremor, Axial dystonia, Difficulty w... |
ORPHA:420492 |
| Parkinson Disease 14, Autosomal Recessive |
|
Spasticity, Ankle clonus, Resting tremor, Parkinsonism, Eyelid myoclonus, Eyelid apraxia, Upper l... |
OMIM:612953 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Tremor, Ataxia |
OMIM:616421 |
| Hereditary Sensory And Autonomic Neuropathy Type 2 |
|
Foot acroosteolysis, Abnormality of the knee, Tapered finger, Abnormality of the ankle, Abnormal ... |
ORPHA:970 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Inability to walk, Oculogyric crisis, Tremor, Difficulty walking, Dystonia |
ORPHA:330050 |
| Paget Disease Of Bone 2, Early-Onset |
|
Short femur, Femoral bowing, Osteolysis, Sclerosis of skull base, Osteosclerosis of the ulna, Bow... |
OMIM:602080 |
| Behr Syndrome |
|
Progressive spasticity, Truncal ataxia, Gait disturbance, Ataxia, Babinski sign, Dysmetria, Tremo... |
OMIM:210000 |
| Dopa-Responsive Dystonia |
|
Urinary incontinence, Inability to walk, Parkinsonism, Rigidity, Poor coordination, Oculogyric cr... |
ORPHA:255 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Gait ataxia, Abnormal pyramidal sign, Dysdiadochokinesis, Inability to walk, Ataxia, Dysmetria, T... |
OMIM:614831 |
| Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Spasticity, Fasciculations, Urinary bladder sphincter dysfunction, Dysdiado... |
OMIM:183090 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Gait ataxia, Gait apraxia, Dysdiadochokinesis, Resting tremor, Apraxia, Paraparesis, Limb ataxia,... |
OMIM:615157 |
| Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Dentinogenesis imperfecta, Upper limb undergrowth, Abnormal cortical bone morphology, Toe clinoda... |
ORPHA:166277 |
| Dystonia 7, Torsion |
|
Blepharospasm, Writer's cramp, Clumsiness, Torticollis, Hand tremor, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Tip-toe gait, Paraparesis, Gait disturbance, Incoordination, Hand tremor, Babinski sign, Dysmetri... |
OMIM:302800 |
| Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Abnormal pyramidal sign, Myoclonus, Tremor, Progressive cerebellar ataxia, Dystonia |
ORPHA:139485 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Gait ataxia, Spasticity, Inability to walk, Apraxia, Dysmetria, Tremor |
OMIM:617810 |
| Kaposiform Lymphangiomatosis |
|
Pancreatic cysts, Anemia, Enlarged kidney, Abnormal spleen morphology, Abnormal lymphatic vessel ... |
ORPHA:464329 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Babinski sign, Spastic paraplegia, Tremor, Difficulty walking, Broad-based gait |
ORPHA:477673 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Autosomal Dominant Polycystic Kidney Disease |
|
Pancreatic cysts, Recurrent urinary tract infections, Stage 5 chronic kidney disease, Enlarged ki... |
ORPHA:730 |
| Caffey Disease |
|
Cellulitis, Cortical thickening of long bone diaphyses, Cortical irregularity, Calvarial hyperost... |
ORPHA:1310 |
| Alpha-Methylacyl-Coa Racemase Deficiency |
|
Spasticity, Abnormality of the liver, Hemiparesis, Ataxia, Tremor, Intention tremor |
OMIM:614307 |
| Thanatophoric Dysplasia Type 1 |
|
Hypoplastic ilia, Short femur, Femoral bowing, Brachydactyly, Abnormal sacroiliac joint morpholog... |
ORPHA:1860 |
| Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly |
|
Toe syndactyly, Aplasia/hypoplasia of the femur, Postaxial hand polydactyly, Talipes equinovarus,... |
OMIM:228930 |
| Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Anemia, Nephrotic syndrome, Gait disturbance, Nephropathy, Tremor, Hypertonia, Proteinuria |
ORPHA:1192 |
| Atelosteogenesis Type I |
|
Absent or minimally ossified vertebral bodies, Rhizomelia, Short long bone, Micrognathia, Short f... |
ORPHA:1190 |
| Neuronal Intranuclear Inclusion Disease |
|
Urinary incontinence, Rigidity, Gait disturbance, Ataxia, Tremor |
OMIM:603472 |
| Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
| Ivic Syndrome |
|
Triphalangeal thumb, Absent thumb, Upper limb undergrowth, Short 1st metacarpal, Hypoplasia of th... |
OMIM:147750 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Poor fine motor coordination, Spastic ataxia, Progressive spasticity, Truncal ataxia, Clumsiness,... |
ORPHA:137898 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, Tremor, Ataxia, Myoclonus |
OMIM:616494 |
| Atypical Rett Syndrome |
|
Gait ataxia, Spasticity, Limb myoclonus, Inability to walk, Apraxia, Gait disturbance, Loss of am... |
ORPHA:3095 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Ankle clonus, Abnormal pyramidal sign, Tremor, Hypertonia, Unsteady gait, Dystonia, B... |
OMIM:617435 |
| Sporadic Infantile Bilateral Striatal Necrosis |
|
Gait ataxia, Urinary incontinence, Chorea, Resting tremor, Parkinsonism, Titubation, Gait disturb... |
ORPHA:225147 |
| Metatropic Dysplasia |
|
Camptodactyly of finger, Abnormal enchondral ossification, Coarse metaphyseal trabecularization, ... |
ORPHA:2635 |
| Obesity Due To Sim1 Deficiency |
|
Increased resting energy expenditure, Hyperinsulinemia, Obesity, Glucose intolerance |
ORPHA:369873 |
| Parkinson Disease 20, Early-Onset |
|
Shuffling gait, Parkinsonism, Rigidity, Eyelid apraxia, Gait disturbance, Short stepped shuffling... |
OMIM:615530 |
| Achondroplasia |
|
Genu varum, Rhizomelia, Short femoral neck, Short ribs, Radial bowing, Ulnar bowing, Short femur,... |
OMIM:100800 |
| Ataxia With Vitamin E Deficiency |
|
Abnormal pyramidal sign, Dysdiadochokinesis, Hemiplegia/hemiparesis, Gait disturbance, Ataxia, Dy... |
ORPHA:96 |
| Meckel Syndrome, Type 8 |
|
Enlarged kidney, Polycystic kidney dysplasia, Hyperechogenic kidneys |
OMIM:613885 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Rigidity, Paraparesis, Myoclonus, Ataxia, Tremor, Progressive extrapyramidal movement disorder, H... |
OMIM:612736 |
| Hyperparathyroidism, Transient Neonatal |
|
Short ribs, Short long bone, Short femur, Femoral bowing, Inguinal hernia, Fractured rib, Subperi... |
OMIM:618188 |
| Autosomal Dominant Cerebellar Ataxia |
|
Akinesia, Pseudobulbar paralysis, Choreoathetosis, Upper motor neuron dysfunction, Action tremor,... |
ORPHA:99 |
| Crigler-Najjar Syndrome Type 1 |
|
Prolonged neonatal jaundice, Tremor, Abnormality of the liver, Biliary tract abnormality |
ORPHA:79234 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Paraparesis, Tremor, Gait disturbance, Ataxia |
ORPHA:99014 |
| Lymphoid Interstitial Pneumonia |
|
Respiratory tract infection, Subpleural interstitial thickening, Bronchiectasis, Enlarged kidney,... |
ORPHA:79128 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Limb hypertonia, Parkinsonism, Rigidity, Choreoathetosis, Ataxia, Tremor, Hypertonia, Dystonia, B... |
OMIM:261640 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Gait imbalance, Falls, Akinesia, Abnormal pyramidal sign, Parkinsonism, Parkinsoni... |
ORPHA:240071 |
| Pyle Disease |
|
Thin bony cortex, Genu valgum, Hypoplastic frontal sinuses, Absent paranasal sinuses, Metaphyseal... |
OMIM:265900 |
| Saccharopinuria |
|
Gait ataxia, Hyperlysinuria, Spastic diplegia, Citrullinuria, Cystinuria, Tremor |
ORPHA:3124 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Torticollis, Blepharospasm, Torsion dystonia, Tremor |
OMIM:224500 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Cirrhosis, Limb dystonia, Myoclonus, Poor motor... |
ORPHA:363400 |
| Kyphomelic Dysplasia |
|
Short metacarpal, Micrognathia, Radial bowing, Flat acetabular roof, Ulnar bowing, Short femur, F... |
OMIM:211350 |
| Primary Progressive Freezing Gait |
|
Urinary incontinence, Gait imbalance, Shuffling gait, Postural tremor, Rigidity, Babinski sign, D... |
ORPHA:75567 |
| Spastic Paraplegia 9B, Autosomal Recessive |
|
Urinary incontinence, Spasticity, Urinary retention, Pseudobulbar paralysis, Gait disturbance, Sp... |
OMIM:616586 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Inability to walk, Writer's cramp, Torticollis, Babinski sign, Torsion dystonia, T... |
OMIM:128100 |
| Mohr-Tranebjaerg Syndrome |
|
Ankle clonus, Aspiration pneumonia, Shuffling gait, Inability to walk, Abnormal pyramidal sign, A... |
ORPHA:52368 |
| Osteomesopyknosis |
|
Increased bone mineral density, Abnormal cortical bone morphology |
ORPHA:2777 |
| Acrocephalopolydactylous Dysplasia |
|
Hepatic fibrosis, Enlarged kidney, Polysplenia, Cystic renal dysplasia, Pulmonary hypoplasia, Pan... |
OMIM:200995 |
| Dentatorubral Pallidoluysian Atrophy |
|
Gait ataxia, Blepharospasm, Dysdiadochokinesis, Truncal ataxia, Myoclonus, Choreoathetosis, Limb ... |
ORPHA:101 |
| Orofaciodigital Syndrome Vi |
|
11 pairs of ribs, Preaxial hand polydactyly, Toe syndactyly, Micrognathia, Preaxial foot polydact... |
OMIM:277170 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Spasticity, Rigidity, Oculomotor apraxia, Choreoathetosis, Ataxia, Tremor, Dystonia |
OMIM:612438 |
| Dysplastic Cortical Hyperostosis |
|
Increased bone mineral density, Limb undergrowth, Abnormal cortical bone morphology, Abnormality ... |
ORPHA:2204 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Inability to walk, Rigidity, Paraparesis, Babinski ... |
OMIM:607483 |
| Hyperphenylalaninemia, Bh4-Deficient, B |
|
Limb hypertonia, Rigidity, Choreoathetosis, Tremor, Hyperkinetic movements, Dystonia |
OMIM:233910 |
| Typhoid |
|
Abnormal pulmonary interstitial morphology, Ataxia, Tremor, Hepatomegaly, Hypertonia, Splenomegaly |
ORPHA:99745 |
| Leukoencephalopathy With Calcifications And Cysts |
|
Spasticity, Abnormal pyramidal sign, Gait disturbance, Ataxia, Tremor, Dystonia |
ORPHA:542310 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Spasticity, Postural tremor, Ataxia, Babinski sign, Dysmetria, Loss of ambulation, Tremor, Dystonia |
OMIM:607694 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Shuffling gait, Resting tremor, Parkinsonism, Tremor, Lower limb spasticity, Broad-based gait |
ORPHA:3077 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Gait ataxia, Chorea, Truncal ataxia, Oculomotor apraxia, Limb ataxia, Ataxia, Loss of ambulation,... |
OMIM:208920 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Myoclonus, Gait disturba... |
OMIM:168601 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Poor motor coordination, Ataxia, Dysmetria, Tremor |
ORPHA:1170 |
| Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Ataxia, Hypertonia |
OMIM:617106 |
| Waisman Syndrome |
|
Shuffling gait, Resting tremor, Parkinsonism, Rigidity, Parkinsonism with favorable response to d... |
OMIM:311510 |
| Autosomal Recessive Polycystic Kidney Disease |
|
Cholangiocarcinoma, Pulmonary hypoplasia, Hepatosplenomegaly, Hepatoblastoma, Reduced renal corti... |
ORPHA:731 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Shuffling gait, Spastic gait, Spastic tetraplegia, Resting tremor, Parkinsonism, Apraxia, Choreoa... |
OMIM:300055 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Gait ataxia, Urinary incontinence, Spasticity, Shuffling gait, Dysdiadochokinesis, Akinesia, Rest... |
ORPHA:247234 |
| Angioosteohypotrophic Syndrome |
|
Thin bony cortex, Upper limb undergrowth, Abnormal trabecular bone morphology, Abnormal foot morp... |
ORPHA:75508 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Tetraplegia, Spastic diplegia, Clumsiness, Gait disturbance, Upper motor neuron dysfunction, Atax... |
ORPHA:206443 |
| Pelizaeus-Merzbacher Disease |
|
Abnormal pyramidal sign, Inability to walk, Writer's cramp, Urinary urgency, Choreoathetosis, Ata... |
OMIM:312080 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
ORPHA:329284 |
| Peroxisome Biogenesis Disorder 5B |
|
Oculomotor apraxia, Ataxia, Dysmetria, Tremor, Unsteady gait |
OMIM:614867 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Short stepped shuffling gait, Tremor, Dy... |
OMIM:168600 |
| Sialidosis Type 2 |
|
Ataxia, Nephropathy, Tremor, Hepatomegaly, Splenomegaly |
ORPHA:87876 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Incoordination, Ataxia, Tremor, Hy... |
OMIM:618060 |
| Myopathy With Extrapyramidal Signs |
|
Chorea, Clumsiness, Abnormality of extrapyramidal motor function, Choreoathetosis, Ataxia, Tremor... |
OMIM:615673 |
| Thalidomide Embryopathy |
|
Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Radial club hand, Preaxial hand polydactyly... |
ORPHA:3312 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:600081 |
| Ataxia-Telangiectasia |
|
Spasticity, Aplasia/Hypoplasia of the thymus, Gait disturbance, Ataxia, Lymphopenia, Tremor, Recu... |
ORPHA:100 |
| 4H Leukodystrophy |
|
Dysdiadochokinesis, Progressive gait ataxia, Abnormality of extrapyramidal motor function, Upper ... |
ORPHA:289494 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Chorea, Resting tremor, Parkinsonism, Myoclonus, Ataxia, Cogwheel rigidity, Dystonia, Intention t... |
OMIM:619725 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Abnormal pyramidal sign, Incoordination, Tremor, Progressive cerebellar ataxia |
OMIM:608768 |
| Diaphanospondylodysostosis |
|
Abnormal liver lobulation, Enlarged kidney, Cystic renal dysplasia, Pulmonary hypoplasia, Nephrog... |
OMIM:608022 |
| Cln5 Disease |
|
Spasticity, Dysdiadochokinesis, Inability to walk, Truncal ataxia, Clumsiness, Ataxia, Poor gross... |
ORPHA:228360 |
| Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome |
|
Enlarged kidney, Enlarged polycystic ovaries |
ORPHA:90301 |
| Ck Syndrome |
|
Slender build, Micrognathia, Abnormal cortical bone morphology, Abnormal digit morphology |
OMIM:300831 |
| Purine Nucleoside Phosphorylase Deficiency |
|
Spastic diplegia, Recurrent urinary tract infections, Neutropenia in presence of anti-neutropil a... |
OMIM:613179 |
| Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
| Spondylometaphyseal Dysplasia, Pagnamenta Type |
|
Thin bony cortex, Short 4th metacarpal, Rhizomelia, Short 5th metacarpal, Femoral bowing, Broad t... |
OMIM:619638 |
| Paternal Uniparental Disomy Of Chromosome 1 |
|
Enlarged kidney, Myoclonus, Membranoproliferative glomerulonephritis, Episodic hemolytic anemia, ... |
ORPHA:251004 |
| Melnick-Needles Syndrome |
|
Osteolytic defects of the phalanges of the hand, Coxa valga, Micrognathia, Craniofacial hyperosto... |
ORPHA:2484 |
| Glycogen Storage Disease Ib |
|
Neutropenia, Enlarged kidney, Pancreatitis, Hepatocellular carcinoma, Decreased glomerular filtra... |
OMIM:232220 |
| Gerstmann-Straussler Disease |
|
Gait ataxia, Spasticity, Parkinsonism, Truncal ataxia, Rigidity, Apraxia, Myoclonus, Limb ataxia,... |
OMIM:137440 |
| Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, ... |
OMIM:264700 |
| Osteogenesis Imperfecta, Type Xxii |
|
Dentinogenesis imperfecta, Thin bony cortex, Pseudoarthrosis, Slender long bone, Bowing of the lo... |
OMIM:619795 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Limb hypertonia, Rigidity, Oculogyric crisis, Tremor, Dystonia, Bradykinesia |
ORPHA:70594 |
| Vitamin D-Dependent Rickets, Type 2A |
|
Enamel hypoplasia, Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, ... |
OMIM:277440 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Gait ataxia, Myoclonus, Ataxia, Babinski sign, Dysmetria, Tremor, Steppage gait, Hypertonia, Inte... |
OMIM:616505 |
| Tyrosinemia, Type I |
|
Cirrhosis, Anemia, Enlarged kidney, Hepatocellular carcinoma, Glomerular sclerosis, Hepatomegaly,... |
OMIM:276700 |
| Aceruloplasminemia |
|
Gait ataxia, Chorea, Hepatic fibrosis, Blepharospasm, Cirrhosis, Akinesia, Parkinsonism, Rigidity... |
ORPHA:48818 |
| Spontaneous Periodic Hypothermia |
|
Tremor, Gait disturbance, Ataxia |
ORPHA:29822 |
| Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
| Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Enlarged kidney, Urethral atresia, Pulmonary hypoplasia, Hydronephrosis |
OMIM:314390 |
| Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Flexion contracture, Micrognathia, Elbow flexion contracture, Hip dislocation, Short femur, Limb ... |
OMIM:210710 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Flexion contracture, Short femur, Failure to thrive, Hypoglycemia, Short humerus |
ORPHA:17 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Spasticity, Limb hypertonia, Rigidity, Myoclonus, Ataxia, Tremor, Difficulty walking, Involuntary... |
ORPHA:442835 |
| Sézary Syndrome |
|
Abnormal pleura morphology, Lymphadenopathy, Tremor, Hepatomegaly, Splenomegaly, Abnormal lymphoc... |
ORPHA:3162 |
| Grant Syndrome |
|
Micrognathia, Abnormal cortical bone morphology, Abnormality of the glenoid fossa, Abnormal pelvi... |
ORPHA:2097 |
| Combined Oxidative Phosphorylation Deficiency 18 |
|
Dysmetria, Tremor, Hypersegmentation of neutrophil nuclei, Macrocytic anemia, Methylmalonic aciduria |
OMIM:615578 |
| Igg4-Related Kidney Disease |
|
Nephrotic range proteinuria, Sclerosing cholangitis, Renal interstitial immunoglobulin deposits, ... |
ORPHA:449395 |
| Inherited Creutzfeldt-Jakob Disease |
|
Gait ataxia, Chorea, Abnormal pyramidal sign, Spastic dysarthria, Clumsiness, Myoclonus, Babinski... |
ORPHA:282166 |
| Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Hemolytic anemia, Reticulocytosis, Ataxia, Decreased hemoglobin concentration, Tremor, Renal insu... |
ORPHA:713 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Upper limb spasticity, Gait disturbance, Tremor, Hyperkinetic movements, Pulmonary fibrosis, Micr... |
ORPHA:457240 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Renal dysplasia, Enlarged kidney, Polycystic kidney dysplasia, Long-chain dicarboxylic aciduria, ... |
OMIM:608836 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Spasticity, Inability to walk, Choreoathetosis, Tremor, Horseshoe kidney, Dystonia |
OMIM:617664 |
| Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Tibial bowing, Sparse bone trabecu... |
OMIM:241530 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Upper motor neuron dysfunction, Babinski sign, Action tremor, Hypertonia, Gait ataxia, Spasticity... |
ORPHA:99027 |
| Sialidosis Type 1 |
|
Aminoaciduria, Urinary excretion of sialylated oligosaccharides, Myoclonus, Gait disturbance, Inc... |
ORPHA:812 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Gait ataxia, Spasticity, Oculomotor apraxia, Dysmetria, Tremor, Difficulty walking |
ORPHA:529665 |
| Catel-Manzke Syndrome |
|
Short toe, Genu valgum, Short metacarpal, Micrognathia, Talipes equinovarus, Camptodactyly, Clino... |
OMIM:616145 |
| Familial Expansile Osteolysis |
|
Thin bony cortex, Bowing of the long bones, Osteolysis |
OMIM:174810 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Wrist flexion contracture, Thin bony cortex, Micrognathia, Metacarpal osteolysis, Pes cavus, Thin... |
OMIM:259600 |
| Pyruvate Dehydrogenase Deficiency |
|
Spasticity, Abnormal pyramidal sign, Cerebral palsy, Choreoathetosis, Gait disturbance, Ataxia, T... |
ORPHA:765 |
| Caffey Disease |
|
Bowing of the legs, Cortical irregularity, Subperiosteal bone formation, Calvarial hyperostosis, ... |
OMIM:114000 |
| Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tip-toe gait, Gait disturbance, Babinski sign, Spastic paraplegia, Tremor |
ORPHA:83629 |
| Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Leukopenia, Anemia, Inability to walk, Nephrotic syndrome, Enlarged kidney, Urinary glycosaminogl... |
ORPHA:505248 |
| Coenzyme Q10 Deficiency, Primary, 1 |
|
Anemia, Nephrotic syndrome, Myoclonus, Ataxia, Glomerular sclerosis, Right hemiplegia, Pancytopen... |
OMIM:607426 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Spasticity, Abnormal pyramidal sign, Parkinsonism, Abnormality of extrapyramidal motor function, ... |
OMIM:614298 |
| Cranio-Osteoarthropathy |
|
Abnormality of the knee, Abnormal cortical bone morphology, Clubbing of toes, Abnormality of tibi... |
ORPHA:1525 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Akinesia, Parkinsonism, Rigidity, Spastic paraparesis, Tremor, Dystonia, Bradykinesia |
OMIM:300894 |
| H Syndrome |
|
Bronchiectasis, Abnormality of the kidney, Enlarged kidney, Recurrent pharyngitis, Hepatosplenome... |
ORPHA:168569 |
| Meacham Syndrome |
|
Cardiac total anomalous pulmonary venous connection, Enlarged kidney, Congenital alveolar dysplas... |
OMIM:608978 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Myoclonus, Blepharospasm, Ataxia, Tremor |
OMIM:607876 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Bradykinesia, Resting tremor, Parkinsonism |
OMIM:614251 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Abnormal pyramidal sign, Akinesia, Parkinsonism, Rigidity, Resting tremor, Limb dystonia |
OMIM:616840 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Gait ataxia, Spasticity, Abnormal pyramidal sign, Dysdiadochokinesis, Ataxia, Dysmetria, Tremor, ... |
OMIM:614381 |
| Hypophosphatemic Rickets, X-Linked Recessive |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Tibial bowing, Spars... |
OMIM:300554 |
| Glycogen Storage Disease Ia |
|
Enlarged kidney, Hepatocellular carcinoma, Decreased glomerular filtration rate, Hepatomegaly, Pr... |
OMIM:232200 |
| Gorham-Stout Disease |
|
Abnormal bone ossification, Abnormal finger morphology, Osteolysis involving bones of the upper l... |
ORPHA:73 |
| Dent Disease 1 |
|
Thin bony cortex, Metaphyseal irregularity, Bulging epiphyses, Osteomalacia, Glycosuria, Tibial b... |
OMIM:300009 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Short phalanx of finger, Toe syndactyly, Micrognathia, Flared iliac wing, Aplasia/hypoplasia of t... |
OMIM:609945 |
| Tay-Sachs Disease |
|
Poor fine motor coordination, Exaggerated startle response, Ankle clonus, Aspiration pneumonia, I... |
ORPHA:845 |
| Hypocalcemic Vitamin D-Dependent Rickets |
|
Enamel hypoplasia, Thin bony cortex, Genu varum, Osteomalacia, Tibial bowing, Sparse bone trabecu... |
ORPHA:289157 |
| Migraine, Familial Hemiplegic, 2 |
|
Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia, Dysmetria, Tremor |
OMIM:602481 |
| Nephronophthisis-Like Nephropathy 1 |
|
Renal tubular atrophy, Pancreatic cysts, Chronic pancreatitis, Stage 5 chronic kidney disease, Re... |
OMIM:613159 |
| Ataxia-Telangiectasia |
|
Hypoplasia of the thymus, T lymphocytopenia, Bronchiectasis, Inability to walk, Dysdiadochokinesi... |
OMIM:208900 |
| Microphthalmia, Syndromic 9 |
|
Agenesis of pulmonary vessels, Bilateral lung agenesis, Renal malrotation, Multilobulated spleen,... |
OMIM:601186 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Falls, Rigidity, Tremor, Unsteady gait, Dystonia, Bradykinesia |
ORPHA:683 |
| Osteogenesis Imperfecta, Type Xviii |
|
Thin bony cortex, Micrognathia, Femoral bowing, Generalized osteoporosis, Bowing of the long bone... |
OMIM:617952 |
| Perry Syndrome |
|
Akinesia, Parkinsonism, Rigidity, Short stepped shuffling gait, Tremor, Dystonia, Bradykinesia |
OMIM:168605 |
| Wolfram Syndrome 1 |
|
Megaloblastic anemia, Neurogenic bladder, Hydroureter, Sideroblastic anemia, Ataxia, Tremor, Thro... |
OMIM:222300 |
| 3-Methylglutaconic Aciduria, Type Viib |
|
Leukopenia, Spasticity, 3-Methylglutaconic aciduria, Myoclonus, Choreoathetosis, Ataxia, Hepatic ... |
OMIM:616271 |
| Oculodentodigital Dysplasia |
|
Camptodactyly of finger, Preaxial hand polydactyly, Finger syndactyly, Toe syndactyly, Micrognath... |
ORPHA:2710 |
| Autosomal Dominant Spastic Paraplegia Type 9A |
|
Urinary incontinence, Abnormal pyramidal sign, Pollakisuria, Spastic gait, Falls, Spastic dysarth... |
ORPHA:447753 |
| Wiedemann-Rautenstrauch Syndrome |
|
Genu varum, Flexion contracture, Hypoplastic ilia, Small for gestational age, Reduced subcutaneou... |
OMIM:264090 |
| Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Thin bony cortex, Broad femoral neck, Coxa valga, Short tubular bones of the hand, Abnormal foot ... |
ORPHA:85184 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Chorea, Inability to walk, Truncal ataxia, Ataxia, Hepatic steatosis, Tremor, Difficulty walking,... |
OMIM:615356 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Urinary incontinence, Spasticity, Hemiparesis, Ataxia, Paraplegia, Tremor, Cardiomegaly |
OMIM:105210 |
| Intellectual Developmental Disorder, Autosomal Dominant 53 |
|
Genu valgum, Short femur |
OMIM:617798 |
| Alg9-Cdg |
|
Hypoplasia of the bladder, Hepatic cysts, Periportal fibrosis, Enlarged kidney, Torticollis, Abno... |
ORPHA:79328 |
| Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Slender build, Hypoplastic ilia, Reduced subcutaneou... |
ORPHA:3455 |
| Perry Syndrome |
|
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism |
ORPHA:178509 |
| Denys-Drash Syndrome |
|
Nephroblastoma, Nephrotic syndrome, Stage 5 chronic kidney disease, Enlarged kidney, Nephropathy,... |
OMIM:194080 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
| Pelvis-Shoulder Dysplasia |
|
Camptodactyly of finger, Aplasia/Hypoplasia of the fibula, Mesomelic/rhizomelic limb shortening, ... |
ORPHA:2839 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Prolonged neonatal jaundice, Hemolytic anemia, Normocytic anemia, Jaundice, Chronic h... |
OMIM:615512 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spasticity, Neurogenic bladder, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, Tremor |
OMIM:618527 |
| Fibrous Dysplasia Of Bone |
|
Thin bony cortex, Coxa vara, Osteomalacia, Abnormality of the humerus, Abnormal morphology of the... |
ORPHA:249 |
| 8Q24.3 Microdeletion Syndrome |
|
Short 5th finger, Short middle phalanx of the 5th finger, Small for gestational age, Hip dysplasi... |
ORPHA:508488 |
| Niemann-Pick Disease Type C |
|
Limb dystonia, Cataplexy, Upper motor neuron dysfunction, Hepatosplenomegaly, Axial dystonia, Fre... |
ORPHA:646 |
| Lethal Congenital Contracture Syndrome Type 1 |
|
Micrognathia, Abnormal hip bone morphology, Abnormal cortical bone morphology, Slender long bone |
ORPHA:1486 |
| Joubert Syndrome With Hepatic Defect |
|
Intrahepatic biliary atresia, Cirrhosis, Multicystic kidney dysplasia, Oculomotor apraxia, Neopla... |
ORPHA:1454 |
| Mucolipidosis Ii Alpha/Beta |
|
Tip-toe gait, Enlarged kidney, Recurrent bronchitis, Recurrent pneumonia, Mucopolysacchariduria, ... |
OMIM:252500 |
| Chediak-Higashi Syndrome |
|
Leukopenia, Anemia, Jaundice, Gait disturbance, Ataxia, Giant neutrophil granules, Lymphadenopath... |
OMIM:214500 |
| Autosomal Recessive Primary Microcephaly |
|
Abnormal cortical bone morphology |
ORPHA:2512 |
| Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Chronic neutropenia, Anemia, Stage 5 chronic kidney disease, Enlarged kidney, Hepatocellular aden... |
ORPHA:79259 |
| Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Hemolytic-uremic syndrome, Prolonged neonatal jaundice, Microangiopathic hemolytic anemia, Jaundi... |
OMIM:274150 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Spasticity, Blepharospasm, Abnormal pyramidal sign, Acanthocytosis, Akinesi... |
OMIM:234200 |
| Glutaryl-Coa Dehydrogenase Deficiency |
|
Chorea, Rigidity, Limb dystonia, Poor motor coordination, Ataxia, Tremor, Glutaric aciduria, Athe... |
ORPHA:25 |
| Metachromatic Leukodystrophy |
|
Neoplasm of the gallbladder, Urinary incontinence, Tip-toe gait, Abnormal gallbladder morphology,... |
ORPHA:512 |
| Mirage Syndrome |
|
Leukopenia, Anemia, Aspiration pneumonia, Microphallus, Recurrent urinary tract infections, Lymph... |
OMIM:617053 |
| Beckwith-Wiedemann Syndrome |
|
Nephroblastoma, Vesicoureteral reflux, Renal cortical cysts, Pancreatic hyperplasia, Nephrocalcin... |
OMIM:130650 |
| Heterotaxy, Visceral, 1, X-Linked |
|
Bilateral trilobed lung, Asplenia, Biliary atresia, Enlarged kidney, Polysplenia, Renal agenesis,... |
OMIM:306955 |
| Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Gait ataxia, Exaggerated startle response, Limb hypertonia, Truncal titubation, Dysmetria, Tremor... |
OMIM:618056 |
| Hyperlysinemia |
|
Hyperlysinuria, Tip-toe gait, Neck hypertonia, Spastic diplegia, Clumsiness, Poor motor coordinat... |
ORPHA:2203 |
| Hemihyperplasia-Multiple Lipomatosis Syndrome |
|
Nephroblastoma, Enlarged kidney, Abnormality of the lymphatic system |
ORPHA:276280 |
| Autosomal Recessive Hypophosphatemic Rickets |
|
