Photoparoxysmal Response 1 |
|
EEG with photoparoxysmal response |
OMIM:132100 |
Electroencephalographic Peculiarity: Fronto-Precentral Beta Wave Groups |
|
EEG abnormality |
OMIM:130300 |
Electroencephalographic Peculiarity: 14 And 6 Per Sec. Positive Spike Phenomenon |
|
EEG abnormality |
OMIM:130200 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis |
OMIM:176250 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism |
ORPHA:1180 |
Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception, Impaired tactile sensation, Gait d... |
ORPHA:98765 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Postural tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Dementia, Difficulty wal... |
ORPHA:85292 |
X-Linked Complicated Spastic Paraplegia Type 1 |
|
Ataxia, Spastic paraplegia, Cognitive impairment, Mental deterioration, Upper motor neuron dysfun... |
ORPHA:306617 |
Proteinuria, Chronic Benign |
|
Albuminuria, Renal insufficiency, Proteinuria |
OMIM:618884 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Episodic Ataxia Type 5 |
|
Ataxia, Truncal ataxia |
ORPHA:211067 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Atonic-Astatic Syndrome Of Foerster |
|
Inability to walk, Ataxia, Abasia |
OMIM:209100 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Ataxia, Action tremor |
OMIM:300703 |
Nephrotic Syndrome, Type 18 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:618177 |
Nephrotic Syndrome, Type 19 |
|
Focal segmental glomerulosclerosis, Stage 3 chronic kidney disease, Proteinuria, Steroid-resistan... |
OMIM:618178 |
Nephrotic Syndrome, Type 20 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 ch... |
OMIM:301028 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Focal Segmental Glomerulosclerosis 8 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:616032 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Hereditary Geniospasm |
|
EEG abnormality, Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Depression, Myoclonus, Cognitive impairment, Dyst... |
ORPHA:401901 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Ataxia-Deafness-Retardation Syndrome |
|
Ataxia |
OMIM:208850 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Cerebellar Ataxia, Cayman Type |
|
Intention tremor, Broad-based gait, Truncal ataxia, Gait ataxia |
OMIM:601238 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Neuhauser-Eichner-Opitz Syndrome |
|
Rigidity, Spasticity, Hypertonia, Ataxia |
ORPHA:2672 |
Lipoprotein Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Mesangial hypercellularity |
OMIM:611771 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Intention tremor |
ORPHA:94122 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Hoffmann sign, Babinski sign, Spastic paraplegia, Impaired vibration sensation in the low... |
OMIM:615625 |
Nephrotic Syndrome, Type 16 |
|
Hematuria, Nephrotic syndrome, Proteinuria, Minimal change glomerulonephritis |
OMIM:617783 |
Focal Segmental Glomerulosclerosis 7 |
|
Proteinuria, Stage 5 chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis... |
OMIM:616002 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Ataxia, Tremor, Babinski sign, Cognitive impairment, Spasticity |
OMIM:611105 |
Intellectual Developmental Disorder, Autosomal Recessive 64 |
|
Spasticity, Hypertonia, Slurred speech, Impaired social interactions |
OMIM:618103 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Nephrotic Syndrome, Type 17 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Microscopic hema... |
OMIM:618176 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Focal Segmental Glomerulosclerosis 10 |
|
Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea... |
OMIM:256020 |
Nephrotic Syndrome, Type 23 |
|
Proteinuria, Mesangial hypercellularity, Minimal change glomerulonephritis, Focal segmental glome... |
OMIM:619201 |
Spastic Paraplegia, Sensorineural Deafness, Mental Retardation, And Progressive Nephropathy |
|
Focal segmental glomerulosclerosis, Nephropathy, Spastic paraplegia, IgA deposition in the glomer... |
OMIM:182690 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Focal Segmental Glomerulosclerosis 2 |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Focal segmental glomeruloscl... |
OMIM:603965 |
Nephrotic Syndrome, Type 24 |
|
Renal cortical hyperechogenicity, Focal segmental glomerulosclerosis, Podocyte foot process effac... |
OMIM:619263 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Dementia, Abnormality of extrapyramidal moto... |
ORPHA:79262 |
Oculorenocerebellar Syndrome |
|
Glomerular sclerosis, Nephropathy, Spastic diplegia, Choreoathetosis |
OMIM:257970 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Focal Segmental Glomerulosclerosis 5 |
|
Focal segmental glomerulosclerosis, Microscopic hematuria, Proteinuria, Stage 5 chronic kidney di... |
OMIM:613237 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... |
ORPHA:3115 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Focal Segmental Glomerulosclerosis 3, Susceptibility To |
|
Hematuria, Focal segmental glomerulosclerosis, Renal insufficiency, Proteinuria |
OMIM:607832 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Autosomal Spastic Paraplegia Type 72 |
|
Postural tremor, Rigidity, Memory impairment, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Hyperprolinemia Type 1 |
|
Nephropathy, Proteinuria, Prolinuria |
ORPHA:419 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Galloway-Mowat Syndrome 5 |
|
Epicanthus, Proteinuria, Ataxia, Stage 5 chronic kidney disease, Focal segmental glomeruloscleros... |
OMIM:617731 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Autism, Susceptibility To, 20 |
|
Impaired social interactions |
OMIM:618830 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Nephrotic Syndrome, Type 9 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Glomerular scler... |
OMIM:615573 |
Ichthyosis-Hepatosplenomegaly-Cerebellar Degeneration Syndrome |
|
Dementia, Ataxia, Gait disturbance |
ORPHA:2274 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Nephrotic Syndrome, Type 26 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Steroid-resistant nephrotic syndrome, Sta... |
OMIM:620049 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Depression, Progressive cerebellar ataxia, Dysdiadochoki... |
OMIM:604326 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Mental deterioration, Spasticity |
ORPHA:309169 |
Galloway-Mowat Syndrome 2, X-Linked |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Dysmetria, Nephro... |
OMIM:301006 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia |
OMIM:600116 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Hypogonadism, Cognitive impairme... |
OMIM:615768 |
Epilepsy, Progressive Myoclonic 7 |
|
Mental deterioration, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Nephrotic Syndrome, Type 15 |
|
Steroid-resistant nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease, Minimal change... |
OMIM:617609 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Focal Segmental Glomerulosclerosis 6 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulosclerosis, Nephr... |
OMIM:614131 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Depression, Gait at... |
ORPHA:101109 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Ataxia, Confusion, Tremor, Babinski sign, Depression, Gait ataxia, Dementia, Abnormality of extra... |
OMIM:615362 |
Glomerulopathy With Fibronectin Deposits 2 |
|
Renal insufficiency, Proteinuria, Glomerular deposits, Glomerulomegaly, Stage 5 chronic kidney di... |
OMIM:601894 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Nephrotic Syndrome, Type 13 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome, Stage 5 chronic kidney ... |
OMIM:616893 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Nephrotic Syndrome, Type 5, With Or Without Ocular Abnormalities |
|
Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:614199 |
Hematuria, Benign Familial, 2 |
|
Microscopic hematuria, Proteinuria, Abnormal glomerular basement membrane morphology |
OMIM:620320 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Charcot-Marie-Tooth Disease, Dominant Intermediate E |
|
Proteinuria, Claw hand deformity, Stage 5 chronic kidney disease, Distal sensory impairment, Foca... |
OMIM:614455 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Unsteady gait, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:210571 |
Epilepsy, Progressive Myoclonic, 12 |
|
Ataxia, Dysmetria, Depression, Myoclonus, Attention deficit hyperactivity disorder, Difficulty wa... |
OMIM:619191 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome |
|
EEG abnormality, Abnormal social behavior |
ORPHA:436151 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Nephrolithiasis, X-Linked Recessive, With Renal Failure |
|
Renal insufficiency, Chronic kidney disease, Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, P... |
OMIM:310468 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia |
OMIM:264070 |
Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Confusion, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Chromosome 15Q11-Q13 Duplication Syndrome |
|
Unsteady gait, Impaired ability to form peer relationships, EEG abnormality, Impaired social inte... |
OMIM:608636 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Tremor, Rigidity, Abnormal pyramidal sign, Dementia |
OMIM:260540 |
Spinocerebellar Ataxia 41 |
|
Unsteady gait, Ataxia, Gait ataxia |
OMIM:616410 |
Focal Segmental Glomerulosclerosis 9 |
|
Focal segmental glomerulosclerosis, Steroid-resistant nephrotic syndrome |
OMIM:616220 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Focal dystonia, Irri... |
ORPHA:216873 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Dementia, Ataxia, Myoclonus |
OMIM:208700 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Glomerulopathy With Fibronectin Deposits 1 |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Lobular glomeru... |
OMIM:137950 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Dystonia |
OMIM:605909 |
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis |
|
Renal insufficiency, Hypercalciuria, Nephrocalcinosis, Focal segmental glomerulosclerosis, Aminoa... |
OMIM:308990 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
Dentatorubral-Pallidoluysian Atrophy |
|
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Dementia, Myoclonus, Dystonia |
OMIM:125370 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Nephrotic Syndrome, Type 2 |
|
Focal segmental glomerulosclerosis, Nephrotic syndrome, Proteinuria, Stage 5 chronic kidney disease |
OMIM:600995 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Dystonia With Cerebellar Atrophy |
|
Progressive cerebellar ataxia, Torticollis, Craniofacial dystonia, Dystonia |
OMIM:611694 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... |
OMIM:213600 |
Intellectual Developmental Disorder, Autosomal Recessive 77 |
|
Unsteady gait, Head tremor |
OMIM:619988 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Iga Nephropathy, Susceptibility To, 3 |
|
Proteinuria, Mesangial hypercellularity, Stage 5 chronic kidney disease, Hematuria, IgA depositio... |
OMIM:616818 |
Nail-Patella-Like Renal Disease |
|
Glomerulopathy, Renal insufficiency, Microscopic hematuria, Proteinuria |
ORPHA:2613 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Gait disturbance, Myo... |
ORPHA:314632 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Paroxysmal Exertion-Induced Dyskinesia |
|
Lower limb spasticity, Ataxia, Involuntary movements, Chorea, Torsion dystonia, Choreoathetosis, ... |
ORPHA:98811 |
Intellectual Developmental Disorder, Autosomal Recessive 66 |
|
Shyness, Gait ataxia |
OMIM:618221 |
Focal Segmental Glomerulosclerosis 4, Susceptibility To |
|
Focal segmental glomerulosclerosis, Stage 5 chronic kidney disease |
OMIM:612551 |
Reni Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Ataxia, Mesangial hypercellularity, Cryptorchidism, Sta... |
OMIM:617575 |
Intellectual Developmental Disorder With Autism And Speech Delay |
|
Inability to walk, Impaired social interactions |
OMIM:606053 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Mental deterioration, Dy... |
OMIM:617145 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Iga Nephropathy, Susceptibility To, 2 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:613944 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Depression, Gait ataxia, Irritabi... |
OMIM:618093 |
Galloway-Mowat Syndrome 8 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephrotic syndrome, Focal segmental glome... |
OMIM:618349 |
Spinocerebellar Ataxia Type 35 |
|
Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, P... |
ORPHA:276193 |
Spastic Paraplegia-Nephritis-Deafness Syndrome |
|
Proteinuria, Paraplegia, Gait disturbance, Nephropathy, Spasticity |
ORPHA:2820 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Subcortical dementia, Depression, Bradykinesia, Irritability, Dementia, Dystoni... |
OMIM:606438 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Coenzyme Q10 Deficiency, Primary, 6 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrolithiasis, Focal ... |
OMIM:614650 |
Renal Failure, Progressive, With Hypertension |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Microscopic hematuria, Nephritis |
OMIM:161900 |
Scholte Syndrome |
|
Reduced subcutaneous adipose tissue, Epicanthus, Kyphoscoliosis, Abnormal pyramidal sign, Upslant... |
OMIM:300977 |
Spinocerebellar Ataxia 14 |
|
Dysmetria, Depression, Gait ataxia, Progressive cerebellar ataxia, Focal dystonia, Attention defi... |
OMIM:605361 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Polymyoclonus, Infantile |
|
Irritability, Ataxia, Myoclonus |
OMIM:263550 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Action tremor, Unsteady gait, Abnormality of extrapyramidal motor function, Intention tremor |
OMIM:302500 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Depression, Bradykinesia, Dystonia, Emotional l... |
OMIM:128235 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Myoclonus, Fasc... |
OMIM:607317 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Dystonia, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Cognitive ... |
OMIM:617284 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Proteinuria, Recurrent myoglobinuria, Ataxia, Hypergonadotropic hypogonadism, Tremor, Nephrotic s... |
OMIM:607426 |
Nephrotic Syndrome, Type 6 |
|
Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disease, Focal segmental g... |
OMIM:614196 |
Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor |
OMIM:617863 |
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome |
|
Hypospadias, Proteinuria, Glomerulonephritis, Ataxia, Synophrys, Nephrotic syndrome, Head tremor,... |
OMIM:619428 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... |
ORPHA:401820 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Mental deterioration,... |
OMIM:615924 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Parkinsonism with... |
OMIM:616710 |
Alternating Hemiplegia Of Childhood 2 |
|
Episodic quadriplegia, Ataxia, Tetraplegia, Choreoathetosis, Dystonia, Mental deterioration, Hemi... |
OMIM:614820 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 4 |
|
Proteinuria, Chronic kidney disease, Renal hypoplasia, Focal segmental glomerulosclerosis, Renal ... |
OMIM:613092 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Nephrotic Syndrome, Type 7 |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hemolytic-uremic syndrome, Podocyte foot p... |
OMIM:615008 |
Nephrotic Syndrome, Type 3 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomeru... |
OMIM:610725 |
Nephrotic Syndrome, Type 4 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Nephrotic syndrome, Focal segmental glomerulosc... |
OMIM:256370 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Nephrotic Syndrome, Type 22 |
|
Podocyte foot process effacement, Stage 5 chronic kidney disease, Thickened glomerular basement m... |
OMIM:619155 |
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Dystonia, Episodic ata... |
ORPHA:53583 |
3-Methylglutaconic Aciduria Type 3 |
|
Choreoathetosis, Ataxia, Gait disturbance, Spastic paraparesis |
ORPHA:67047 |
Nephrotic Syndrome, Type 12 |
|
Diffuse mesangial sclerosis, Stage 5 chronic kidney disease, Hematuria, Focal segmental glomerulo... |
OMIM:616892 |
Brachyolmia Type 1, Toledo Type |
|
Back pain, Kyphoscoliosis, Short neck, Increased urinary disaccharide excretion, Irregular verteb... |
OMIM:271630 |
Nephronophthisis 13 |
|
Global glomerulosclerosis, Proteinuria, Glomerular subepithelial immune-complex deposits, Stage 5... |
OMIM:614377 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Lipodystrophy, Partial, Acquired, With Low Complement Component C3, With Or Without Glomerulonephritis |
|
Membranoproliferative glomerulonephritis, Lipodystrophy, Proteinuria, Hematuria, Nephrotic syndro... |
OMIM:613913 |
Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Postural tremor, Kyphoscoliosis, Ankle flexion contracture, Babinski sign, Distal sensory impairm... |
OMIM:616668 |
Epilepsy, Progressive Myoclonic, 11 |
|
Rigidity, Ataxia, Myoclonus, Intention tremor |
OMIM:618876 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Babinski sign, Abnormal pyram... |
OMIM:617225 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Limb ataxia, Gait ataxia, Depression, Hand tremor, Gait disturbance, Difficulty... |
ORPHA:98764 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Depression, Dementia, Mania |
OMIM:603218 |
Frasier Syndrome |
|
Proteinuria, Stage 5 chronic kidney disease, Primary amenorrhea, Focal segmental glomeruloscleros... |
OMIM:136680 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Progressive neurologic deterioration, Tremor, Choreoathetosis, Irritability, Hypertonia, Myoclonu... |
OMIM:261630 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor |
OMIM:613728 |
Dystonia 9 |
|
Spastic paraplegia, Abnormal pyramidal sign, Choreoathetosis, Paresthesia, Cognitive impairment, ... |
OMIM:601042 |
Galloway-Mowat Syndrome 4 |
|
Diffuse mesangial sclerosis, Congenital nephrotic syndrome, Proteinuria, Stage 5 chronic kidney d... |
OMIM:617730 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Nonpr... |
ORPHA:453521 |
Focal Segmental Glomerulosclerosis 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Focal segmental glomerulosclerosis, Reduced renal co... |
OMIM:603278 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Postural tremor, Action tremor, Unsteady gait, ... |
OMIM:254900 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Depression, Bradykinesia, Falls, Dystonia, Mental deterioration, Memory impairm... |
ORPHA:240085 |
Epilepsy, Progressive Myoclonic, 8 |
|
Progressive neurologic deterioration, Limb ataxia, Choreoathetosis, Dementia, Gait disturbance, M... |
OMIM:616230 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation, Memory impairment |
OMIM:614018 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Basal Ganglia Calcification, Idiopathic, 5 |
|
Postural tremor, Parkinsonism, Chorea, Hand tremor, Depression, Athetosis, Dementia, Cognitive im... |
OMIM:615483 |
Paroxysmal Kinesigenic Dyskinesia |
|
Involuntary movements, Writer's cramp, Chorea, Athetosis, Dystonia |
ORPHA:98809 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Somatic sensory dysfunction, Unsteady gait, Abnormal pyramidal sign, Impaired proprioception, Lim... |
ORPHA:95434 |
Nystagmus, Hereditary Vertical |
|
Abnormal vestibulo-ocular reflex, Ataxia |
OMIM:164150 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Babinski sign, Spastic paraplegia, Impaired vibration sens... |
OMIM:600363 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Progressive extrapyramidal muscular rigidity, Limb apraxia, Involunt... |
ORPHA:240103 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Kyphoscoliosis, Tremor, Inability to walk, Horseshoe kidney, Choreoathetosis, Joint contracture, ... |
OMIM:617664 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Spinocerebellar Ataxia 11 |
|
Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Truncal ataxia |
OMIM:604432 |
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2 |
|
Epicanthus, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral height, Cryptorchi... |
OMIM:616817 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Scissor gait, Ankle clonus, Bradykinesia, Dystonia, Oromandi... |
ORPHA:521406 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Kyphoscoliosis, Clumsiness, Organic aciduria, Tongue fasciculations, Scoliosis |
OMIM:614707 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
|
Nephrotic syndrome, Podocyte foot process effacement, Proteinuria, Minimal change glomerulonephritis |
OMIM:617006 |
Spondylocostal Dysostosis 6, Autosomal Recessive |
|
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae |
OMIM:616566 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Lower limb spasticity, Kyphoscoliosis, Babinski sign, Spastic paraplegia, Flexion contracture, Dy... |
OMIM:275900 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Lower limb spasticity, Neurogenic bladder, Paroxysmal dystonia, Detrusor sphincter dyssynergia, U... |
ORPHA:466722 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Hypoesthesia, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, B... |
OMIM:618317 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome |
|
Reduced subcutaneous adipose tissue, Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, K... |
ORPHA:3041 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Depression... |
OMIM:616795 |
Frasier Syndrome |
|
Glomerulopathy, Renal insufficiency, Streak ovary, Proteinuria, Hypergonadotropic hypogonadism, P... |
ORPHA:347 |
3-Methylglutaconic Aciduria, Type Iii |
|
Ataxia, Chorea, Babinski sign, Abnormality of extrapyramidal motor function, Cognitive impairment... |
OMIM:258501 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Babinski sign... |
OMIM:300055 |
Iga Nephropathy, Susceptibility To, 1 |
|
Proteinuria, Stage 5 chronic kidney disease, Hematuria, Nephritis, IgA deposition in the glomerulus |
OMIM:161950 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Short attention span, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myo... |
OMIM:619028 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Depression, Gait ataxia, Bradykinesia, Limb dystonia, ... |
ORPHA:71517 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Urinary incontinence, Kyphosis, Babinski sig... |
OMIM:614409 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Oromandibular dystonia, Impaired proprioception, Dysm... |
ORPHA:101 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Galloway-Mowat Syndrome 6 |
|
Nephrotic syndrome, Epicanthus, Proteinuria, Focal segmental glomerulosclerosis |
OMIM:618347 |
Wernicke-Korsakoff Syndrome |
|
Memory impairment, Delirium, Ataxia, Confusion |
OMIM:277730 |
Galloway-Mowat Syndrome 7 |
|
Diffuse mesangial sclerosis, Proteinuria, Kyphoscoliosis, Minimal change glomerulonephritis, Stag... |
OMIM:618348 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Kyphoscoliosis |
OMIM:271200 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vibration sensation in... |
OMIM:607565 |
Spinocerebellar Ataxia 17 |
|
Broad-based gait, Dystonia, Ataxia, Confusion, Parkinsonism, Rigidity, Chorea, Dysmetria, Depress... |
OMIM:607136 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Primary Membranoproliferative Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Nephrot... |
ORPHA:54370 |
Galactosemia I |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Albuminuria, Aminoaciduria, Gala... |
OMIM:230400 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Gait disturbance |
ORPHA:228169 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity |
OMIM:213200 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Hematuria, Nephrotic syndrome, Progressive... |
OMIM:608709 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Valinemia |
|
Valinuria, Hyperkinetic movements |
OMIM:277100 |
Spinocerebellar Ataxia, Autosomal Recessive 20 |
|
Epicanthus, Ataxia, Kyphoscoliosis, Inability to walk, Babinski sign, Oligosacchariduria, Camptod... |
OMIM:616354 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Subcortical dement... |
OMIM:606159 |
Hyperekplexia 4 |
|
Inguinal hernia, Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonu... |
OMIM:618011 |
Nephrotic Syndrome, Type 11 |
|
Diffuse mesangial sclerosis, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidn... |
OMIM:616730 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation, Mo... |
OMIM:256731 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Dystonia, Ataxia, Unsteady gait, Dysmetria, Clumsiness, Gait ataxia, Limb ataxi... |
OMIM:616127 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Incoordination, Ataxia, Urinary incontinence, Impaired distal proprioception, Impaired distal vib... |
OMIM:616688 |
Gordon Holmes Syndrome |
|
Ataxia, Hypogonadotropic hypogonadism, Chorea, Secondary amenorrhea, Primary amenorrhea, Dementia... |
OMIM:212840 |
Spinocerebellar Ataxia 50 |
|
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Memory impairment, Action tremor |
OMIM:620158 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Tremor, Rigidity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Urinary incontinence, Parkinsonism, Myoclonus, U... |
ORPHA:306511 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor |
OMIM:180800 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Attention deficit hyperactivity disorder, Eyelid myoclonus |
OMIM:616421 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Chronic... |
ORPHA:656 |
Preeclampsia/Eclampsia 1 |
|
Proteinuria |
OMIM:189800 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Cerebral palsy, Kyphoscoliosis, Unsteady gait, Dystonia, Spasticity |
OMIM:301107 |
Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Proteinuria, Renal hypoplasia, Beta 2-microglobulinuria, Renal cortical hyperechogenicity, Scolio... |
OMIM:611555 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Galloway-Mowat Syndrome 9 |
|
Diffuse mesangial sclerosis, Hiatus hernia, Almond-shaped palpebral fissure, Stage 5 chronic kidn... |
OMIM:619603 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis... |
OMIM:620323 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Proteinuria, Hyperlordosis, Tremor, Cryptorchidism, Nephrotic syndrome, Hypertonia, Gait disturba... |
ORPHA:1192 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Kyphoscoliosis, Inability to walk, Spastic paraplegia, Spastic tetraplegia, Joint contracture, Sp... |
OMIM:617977 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Ataxia, Inability to walk, Athetosis, Abnormality of extrapyramidal motor function, Dystonia |
OMIM:615159 |
Autosomal Dominant Polycystic Kidney Disease |
|
Renal insufficiency, Recurrent urinary tract infections, Chronic kidney disease, Stage 5 chronic ... |
ORPHA:730 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Lower limb spasticity, Kyphoscoliosis, Babinski sign, Knee flexion contracture, Tip-toe gait, Pro... |
ORPHA:496689 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
Dystonia 31 |
|
Abnormal posturing, Parkinsonism, Difficulty walking |
OMIM:619565 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Myoclonus, Dystonia |
OMIM:619651 |
Nephrotic Syndrome, Type 1 |
|
Diffuse mesangial sclerosis, Renal insufficiency, Congenital nephrotic syndrome, Proteinuria, Ren... |
OMIM:256300 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... |
ORPHA:98810 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... |
ORPHA:100988 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Bradykines... |
ORPHA:157941 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Oculogyric crisis, Parkinsonism, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Babinski sign, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdi... |
ORPHA:504476 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Nemaline Myopathy 7 |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Knee flexion contracture, Gait disturbance, ... |
OMIM:610687 |
Baker-Gordon Syndrome |
|
Epicanthus, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movem... |
OMIM:618218 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Diffuse mesangial sclerosis, Foamy urine, Proteinuria, Minimal change glomerulonephritis, Stage 5... |
ORPHA:567548 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbance, ... |
OMIM:617404 |
Developmental And Epileptic Encephalopathy 41 |
|
Kyphoscoliosis, Inability to walk, Babinski sign, Flexion contracture, Nephrocalcinosis, Tetrapar... |
OMIM:617105 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Spinocerebellar Ataxia 49 |
|
Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Dementia, Abnormality of ext... |
OMIM:619806 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Dystonia, Loss of ambulation |
OMIM:617916 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Dystonia, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordinat... |
ORPHA:79263 |
Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Inguinal hernia, Shoulder flexion contracture, Kyphoscoliosis, Short nec... |
OMIM:277720 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability t... |
OMIM:616756 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Cednik Syndrome |
|
Ataxia, Proteinuria, Nephrotic syndrome, Hypogonadism, Downslanted palpebral fissures |
ORPHA:66631 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Palpebral edema, Minimal change glomerulonephritis, Chronic kidney disease, Stage 5 chronic kidne... |
ORPHA:567546 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Progressive gait at... |
ORPHA:352403 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia |
OMIM:617836 |
Interstitial Nephritis, Karyomegalic |
|
Renal tubular cyst, Proteinuria, Stage 5 chronic kidney disease, Hematuria, Tubulointerstitial ne... |
OMIM:614817 |
Charcot-Marie-Tooth Disease Type 1A |
|
Kyphoscoliosis, Sensory ataxia, Distal sensory impairment, Gait disturbance, Gait imbalance, Pare... |
ORPHA:101081 |
Spinocerebellar Ataxia 32 |
|
Azoospermia, Ataxia, Infertility, Testicular atrophy |
OMIM:613909 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Limb ataxia, Dysmetria, Gait ataxia, Impaired tandem gait, ... |
OMIM:117360 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Depression, Blepharospasm, Bradykinesia, Abnormal synaptic trans... |
ORPHA:683 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol... |
OMIM:610743 |
Imerslund-Grasbeck Syndrome 2 |
|
Proteinuria |
OMIM:618882 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Dystonia, Ataxia, Tremor, Chorea, Oculomotor apraxia, Impaired distal vibration sensation, Limb a... |
OMIM:208920 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Tremor, Rigidity, Limb ataxia, Emotional lability, Depression, Gait ataxia, Bradyki... |
OMIM:137440 |
Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia |
ORPHA:88637 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Ataxia, Babinski sign, Hand tremor, Depression, Dementia, Dystonia, Spasticity, Apraxia |
OMIM:615889 |
Foxg1 Syndrome |
|
Dystonia, Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, ... |
ORPHA:561854 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Broad-based gait, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis, Truncal ataxia, Int... |
OMIM:610185 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Cognitive impairment, Dystonia, Mental... |
ORPHA:542310 |
Juvenile Huntington Disease |
|
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Depression, Irritability, Bradykinesia, ... |
ORPHA:248111 |
Trisomy X |
|
Epicanthus, Multicystic kidney dysplasia, Renal hypoplasia/aplasia, Tremor, Secondary amenorrhea,... |
ORPHA:3375 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Limb dystonia |
OMIM:620270 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Scoliosis, Difficulty walking, Distal sensory impairment |
OMIM:617087 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
Aicardi-Goutieres Syndrome 9 |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Spastic tetraparesis, Stage... |
OMIM:619487 |
Fibronectin Glomerulopathy |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Nephrotic syndrome, Abnormal glomerular mesangi... |
ORPHA:84090 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Atypical Hemolytic Uremic Syndrome |
|
Hematuria, Acute kidney injury, Proteinuria |
ORPHA:2134 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 5 |
|
Focal segmental glomerulosclerosis, Nephropathy, Chronic kidney disease, Renal cyst |
OMIM:617056 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 2 |
|
Renal cortical atrophy, Impaired renal uric acid clearance, Tubular basement membrane disintegrat... |
OMIM:174000 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Autosomal Recessive Spastic Paraplegia Type 23 |
|
Waddling gait, Kyphoscoliosis, Spastic paraplegia, Horseshoe kidney, Spastic gait |
ORPHA:101003 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Epicanthus, Dystonia, Ataxia, Head titubation, Dysmetria, Aminoaciduria, Abnormality of the verte... |
OMIM:250620 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Emotional lability, Waddling gait, Inability to walk |
OMIM:616269 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Involuntary movements, Chorea, Paroxysmal dyskinesia, Choreoathetosis, Myoclonus,... |
OMIM:606703 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Dysmetria, Gait a... |
ORPHA:1170 |
Alport Syndrome |
|
Glomerular C3 deposition, Renal insufficiency, Glomerular basement membrane lamellation, Proteinu... |
ORPHA:63 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:276621 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Dementia, Gait disturbance, Cognitive impa... |
OMIM:603472 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
C3 Glomerulopathy |
|
Membranoproliferative glomerulonephritis, Proteinuria, Lipodystrophy, Mesangial hypercellularity,... |
ORPHA:329918 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Myoglobinuria, Recurrent |
|
Recurrent myoglobinuria, Exercise-induced myoglobinuria |
OMIM:550500 |
Spinocerebellar Ataxia Type 29 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cognitive impairment, Oculomotor apraxia, Int... |
ORPHA:208513 |
Spermatogenic Failure 57 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... |
OMIM:619528 |
Idiopathic Non-Lupus Full-House Nephropathy |
|
Glomerular C3 deposition, Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hemat... |
ORPHA:567544 |
Spinocerebellar Ataxia 5 |
|
Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Dysmetria, Gait ataxia, L... |
OMIM:600224 |
Spermatogenic Failure 50 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size |
OMIM:619145 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
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 |
Proteus Syndrome |
|
Kyphoscoliosis, Spinal canal stenosis, Multiple lipomas, Lipoma, Limbal dermoid, Downslanted palp... |
OMIM:176920 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Mental deterioration... |
OMIM:609260 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Impaired distal vibration sensation... |
OMIM:300623 |
Congenital Nephrotic Syndrome, Finnish Type |
|
Nephrotic syndrome, Proteinuria, Abnormal renal tubule morphology |
ORPHA:839 |
Spinocerebellar Ataxia Type 26 |
|
Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia... |
ORPHA:101112 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor |
OMIM:619738 |
Spermatogenic Failure 59 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619645 |
Spermatogenic Failure 60 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619646 |
Spermatogenic Failure 74 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619937 |
Spermatogenic Failure 73 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:619878 |
Spinal Arteriovenous Metameric Syndrome |
|
Abnormality of the kidney, Kyphoscoliosis, Paraparesis, Cutaneous angiolipomas, Abnormality of th... |
ORPHA:53721 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Seckel Syndrome 8 |
|
Kyphoscoliosis, Ectopic kidney |
OMIM:615807 |
Spinocerebellar Ataxia With Epilepsy |
|
Progressive neurologic deterioration, Tremor, Dysmetria, Gait ataxia, Depression, Progressive cer... |
ORPHA:254881 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia |
ORPHA:319199 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... |
OMIM:614831 |
C3 Glomerulopathy 3 |
|
Glomerular C3 deposition, Renal insufficiency, Glomerulonephritis, Mesangial hypercellularity, St... |
OMIM:614809 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Ir... |
OMIM:261640 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babinski sign, Gait apraxi... |
OMIM:615157 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Sh... |
ORPHA:3077 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Dementia, Myoclonus, Cognitive impairment |
OMIM:607876 |
Congenital Disorder Of Glycosylation, Type Iik |
|
Hemolytic-uremic syndrome, Kyphoscoliosis, Amelogenesis imperfecta |
OMIM:614727 |
Perry Syndrome |
|
Parkinsonism, Tremor, Depression, Dementia, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
Dent Disease |
|
Renal insufficiency, Hyperphosphaturia, Proteinuria, Non-acidotic proximal tubulopathy, Chronic k... |
ORPHA:1652 |
Spinocerebellar Ataxia Type 17 |
|
Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rigidity, Chorea, Abnor... |
ORPHA:98759 |
Epidermodysplasia Verruciformis, Susceptibility To, 2 |
|
Verruca plana, Squamous cell carcinoma of the skin |
OMIM:618231 |
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome |
|
Atlantoaxial abnormality, Downslanted palpebral fissures, Shuffling gait, Kyphoscoliosis |
ORPHA:3433 |
Spondyloepiphyseal Dysplasia, Stanescu Type |
|
Waddling gait, Kyphoscoliosis, Vertebral wedging, Platyspondyly, Beaking of vertebral bodies |
OMIM:616583 |
Galloway-Mowat Syndrome 10 |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Myoclonus, Podocyte foo... |
OMIM:619609 |
Charcot-Marie-Tooth Disease Type 4D |
|
Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Inability to walk, Unsteady gait, D... |
ORPHA:99950 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Spermatogenic Failure 32 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:618115 |
Spermatogenic Failure 71 |
|
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype |
OMIM:619831 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Proteinuria, Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Voca... |
ORPHA:29072 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... |
OMIM:619574 |
Galloway-Mowat Syndrome 3 |
|
Diffuse mesangial sclerosis, Epicanthus, Proteinuria, Hiatus hernia, Stage 5 chronic kidney disea... |
OMIM:617729 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Inability to walk, Abnormal posturing, Opisthotonus, Increased susceptibility to fractures, Weigh... |
ORPHA:216866 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Gait ataxia, Distal sensory impairment, Cognitive impairment, Mental de... |
ORPHA:3124 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Progressive neurologic deterioration, Tremor, Rigidity, Choreoathetosis, Irritability, Hyperkinet... |
OMIM:233910 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Scoliosis... |
OMIM:620386 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Depression, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia |
ORPHA:306669 |
Developmental And Epileptic Encephalopathy 37 |
|
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... |
OMIM:616981 |
Ichthyosis--Cheek--Eyebrow Syndrome |
|
Kyphoscoliosis, Sparse lateral eyebrow |
OMIM:146720 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia... |
OMIM:619862 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Primary Dystonia, Dyt4 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... |
ORPHA:98805 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Kyphoscoliosis, Achilles tendon contracture, Tip-toe gait, Difficulty walking, Frequent falls |
ORPHA:370980 |
Autosomal Dominant Brachyolmia |
|
Increased vertebral height, Platyspondyly, Kyphoscoliosis |
ORPHA:93304 |
Carnitine Palmitoyltransferase Ii Deficiency, Myopathic, Stress-Induced |
|
Myoglobinuria, Renal insufficiency |
OMIM:255110 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Ataxia |
OMIM:618951 |
Allan-Herndon-Dudley Syndrome |
|
Ataxia, Kyphoscoliosis, Cryptorchidism, Babinski sign, Abnormal pyramidal sign, Spastic tetrapleg... |
ORPHA:59 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetraplegia, Clumsiness,... |
ORPHA:206443 |
Schimke Immunoosseous Dysplasia |
|
Waddling gait, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Sh... |
OMIM:242900 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuria, Tip-toe gait, Urinary ... |
ORPHA:447760 |
Maternally-Inherited Diabetes And Deafness |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Ataxia |
ORPHA:225 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Attention deficit hyperactivity disorder, Action tremor |
OMIM:617665 |
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Back pain, Spastic ataxia, Somatic sensory dysfunction, Kyphoscoliosis, Rigidity, Abnormal pyrami... |
ORPHA:199354 |
Hsd10 Disease |
|
Elevated urinary 3-hydroxybutyric acid, Ataxia, Tremor, Rigidity, Choreoathetosis, Abnormal urina... |
ORPHA:391417 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis, Dementia, Mental deterioration, Memory impairment |
ORPHA:820 |
Spinocerebellar Ataxia Type 32 |
|
Male infertility, Azoospermia, Progressive cerebellar ataxia, Cognitive impairment, Testicular at... |
ORPHA:276183 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Tremor, Inability to walk, Eyelid myoclonus, Clumsiness, Myoclonus, Difficulty wal... |
ORPHA:2590 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hip contracture, Hyperlordosis, Kyphosis,... |
OMIM:615290 |
Mucopolysaccharidosis-Plus Syndrome |
|
Epicanthus, Telecanthus, Proteinuria, Short neck, Inability to walk, Synophrys, Flexion contractu... |
OMIM:617303 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Inherited Creutzfeldt-Jakob Disease |
|
Short attention span, Confusion, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyr... |
ORPHA:282166 |
Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Epicanthus, Hypospadias, Cryptorchidism, Unsteady gait, Upslanted palpebral fissure, Aminoaciduri... |
OMIM:214100 |
Spinocerebellar Ataxia 44 |
|
Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Denys-Drash Syndrome |
|
Nephrotic syndrome, Nephropathy, Proteinuria, Nephroblastoma |
ORPHA:220 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Congenital Myopathy 23 |
|
Waddling gait, Difficulty walking, Flexion contracture, Kyphoscoliosis |
OMIM:609285 |
Combined Saposin Deficiency |
|
Babinski sign, Myoclonus, Fasciculations, Hyperkinetic movements |
OMIM:611721 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis |
ORPHA:329284 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... |
ORPHA:280219 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Progressive neurologic deterioration, Tremor, Rigidity, Dementia, Hypertonia, Spasticity |
OMIM:176500 |
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes |
|
Kyphoscoliosis, Secondary amenorrhea, Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis |
OMIM:612847 |
Spinocerebellar Ataxia 2 |
|
Impaired vibratory sensation, Ataxia, Urinary incontinence, Parkinsonism, Postural tremor, Rigidi... |
OMIM:183090 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Memory impairment |
ORPHA:79234 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Ataxia, Kyphoscoliosis, Dystonia |
OMIM:616684 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Decreased testicular size, Telecanthus, Epicanthus, Kyphoscoliosis, Cryptorchidism, Spasticity, H... |
OMIM:612513 |
Spermatogenic Failure 62 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619673 |
Spermatogenic Failure 61 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619672 |
Gm1-Gangliosidosis, Type Iii |
|
Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior beaking of lumbar vertebrae |
OMIM:230650 |
Nephrotic Syndrome, Type 8 |
|
Diffuse mesangial sclerosis, Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease,... |
OMIM:615244 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Babinski sign, Truncal ataxia, Hand tremor, Dysmetria, Limb ataxia, Tongue fasciculations... |
ORPHA:276198 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Spermatogenic Failure 52 |
|
Male infertility, Azoospermia |
OMIM:619202 |
Spermatogenic Failure 23 |
|
Male infertility, Azoospermia |
OMIM:617707 |
Spermatogenic Failure 4 |
|
Male infertility, Azoospermia |
OMIM:270960 |
Spermatogenic Failure, Y-Linked, 2 |
|
Male infertility, Azoospermia |
OMIM:415000 |
Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babi... |
ORPHA:88644 |
Spinocerebellar Ataxia 21 |
|
Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Cogwheel rigidity, Pro... |
OMIM:607454 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Choreoathetosis, Irritability, Dystonia |
OMIM:612126 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Gait ataxia, Choreo... |
OMIM:618877 |
Thyrocerebrorenal Syndrome |
|
Renal insufficiency, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Nephritis |
ORPHA:3327 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Difficulty walking, Spa... |
ORPHA:101077 |
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome |
|
Neuropathic spinal arthropathy, Telecanthus, Broad-based gait, Palpebral edema, Ataxia, Kyphoscol... |
ORPHA:397709 |
Schimke Immuno-Osseous Dysplasia |
|
Lumbar hyperlordosis, Proteinuria, Ovoid vertebral bodies, Minimal change glomerulonephritis, Sho... |
ORPHA:1830 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Impaired distal proprioception, Tremor, Unsteady gait, Impaired vibration sensati... |
ORPHA:137898 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Hypogonadotropic hypogonadism, Ataxia, Kyphoscoliosis, Hypergonadotropic hypogonadism, Chorea, Ba... |
OMIM:604168 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Tongue fasciculations |
OMIM:620007 |
Behr Syndrome |
|
Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Progressive spasticity... |
OMIM:210000 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Fatiguable weakness of proximal limb musc... |
ORPHA:90117 |
Spinocerebellar Ataxia 4 |
|
Progressive cerebellar ataxia, Babinski sign, Limb dysmetria, Distal sensory impairment |
OMIM:600223 |
Adenine Phosphoribosyltransferase Deficiency |
|
Renal insufficiency, Recurrent urinary tract infections, Proteinuria, Dysuria, Chronic kidney dis... |
ORPHA:976 |
Galloway-Mowat Syndrome 1 |
|
Diffuse mesangial sclerosis, Epicanthus, Renal insufficiency, Proteinuria, Ataxia, Hiatus hernia,... |
OMIM:251300 |
Spinocerebellar Ataxia 6 |
|
Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Truncal ataxia,... |
OMIM:183086 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Focal segmental glomerulosclerosis, Spasticity, Ptosis |
OMIM:616239 |
Pellagra-Like Syndrome |
|
Ataxia, Confusion |
OMIM:260650 |
Hypouricemia, Renal, 1 |
|
Proteinuria, Urolithiasis, Oliguria, Renal tubular epithelial necrosis, Hyperuricosuria, Renal co... |
OMIM:220150 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Amyloidosis, Familial Visceral |
|
Hematuria, Nephrotic syndrome, Nephropathy, Proteinuria |
OMIM:105200 |
Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Broad-based gait, Kyphoscoliosis, Impaired distal vibration sensation, Distal sensory impairment,... |
OMIM:145900 |
Cystathioninuria |
|
Tremor, Cystathioninuria, Nephrolithiasis |
ORPHA:212 |
Immunodeficiency, Common Variable, 6 |
|
Glomerulonephritis, Stage 5 chronic kidney disease, Mesangial Immune complex deposition, Macrosco... |
OMIM:613496 |
Deafness-Infertility Syndrome |
|
Male infertility, Azoospermia |
ORPHA:94064 |
Huntington Disease-Like 3 |
|
Ataxia, Chorea, Unsteady gait, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... |
OMIM:604802 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Dystonia, Oculogyric crisis, Tremor, Bilateral ptosis, Inability to walk, Difficulty walking, Sco... |
ORPHA:330050 |
Myoglobinuria, Autosomal Dominant |
|
Myoglobinuria, Acute kidney injury |
OMIM:160010 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Postural tremor, Progressive neurologic deterioration, Babinski sign, Focal dystonia, Spastic dys... |
ORPHA:447757 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Tremor, Inability to walk, Dysmetria, Gait ataxia, Apraxia, Spasticity |
OMIM:617810 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Hypermanganesemia With Dystonia 2 |
|
Generalized dystonia, Dystonia, Parkinsonism, Progressive neurologic deterioration, Tremor, Inabi... |
OMIM:617013 |
Aapoaiv Amyloidosis |
|
Back pain, Proteinuria, Abnormal renal medulla morphology, Renal interstitial amyloid deposits, C... |
ORPHA:439232 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... |
ORPHA:13 |
Flynn-Aird Syndrome |
|
Ataxia, Kyphoscoliosis |
OMIM:136300 |
Hereditary Renal Hypouricemia |
|
Back pain, Chronic kidney disease, Hypercalciuria, Hyperuricosuria, Hematuria, Uric acid urolithi... |
ORPHA:94088 |
Orofaciodigital Syndrome Xi |
|
Hypoplasia of the odontoid process, Downslanted palpebral fissures, Kyphoscoliosis |
OMIM:612913 |
Ck Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Kyphoscoliosis, Almond-shaped palpebral fissure, Upslanted palp... |
ORPHA:251383 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Dementia, Tongue fasciculations, Myoclonus, Difficulty walking, Frequent falls |
OMIM:159950 |
Warburg Micro Syndrome 1 |
|
Cryptorchidism, Spastic diplegia, Kyphoscoliosis, Ptosis |
OMIM:600118 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Dystonia, Ataxia, Urinary incontinence, Kyphosis, Unsteady ... |
ORPHA:464282 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Myoclonus, Scoliosis, Dysto... |
OMIM:614254 |
Spinocerebellar Ataxia 34 |
|
Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis, Fasciculations, Sp... |
OMIM:133190 |
Sandhoff Disease, Juvenile Form |
|
Incoordination, Ataxia, Urinary incontinence, Limb joint contracture, Abnormal pyramidal sign, Ga... |
ORPHA:309162 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Distal sensory impairment, Scoliosis, L... |
OMIM:618124 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Steppage gait, Kyphoscoliosis, Distal sensory impairment |
OMIM:605588 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
Rahman Syndrome |
|
Telecanthus, Kyphoscoliosis, Cryptorchidism, Hypertonia, Camptodactyly |
OMIM:617537 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls |
OMIM:616540 |
Spermatogenic Failure 35 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618341 |
Free Sialic Acid Storage Disease |
|
Proteinuria, Ataxia, Abnormal pyramidal sign, Nephrotic syndrome, Athetosis, Gait disturbance, Oc... |
ORPHA:834 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic ... |
OMIM:222600 |
Pauci-Immune Glomerulonephritis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Microscopic hematuria, Renal interstitial i... |
ORPHA:93126 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Dementia, Abnormality of extrapyramidal motor function, Myoc... |
OMIM:607822 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia |
OMIM:300983 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Elevated urinary 4-hydroxybutyric acid, Hyperkinetic movements, Ataxia, Increased level of gamma-... |
OMIM:271980 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dementia, Spastic paraparesis, ... |
OMIM:300894 |
Rhizomelic Chondrodysplasia Punctata, Type 1 |
|
Kyphoscoliosis, Flexion contracture, Upslanted palpebral fissure, Coronal cleft vertebrae, Spasti... |
OMIM:215100 |
Acquired Partial Lipodystrophy |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Lipoatrophy |
ORPHA:79087 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Kyphoscoliosis, Dystonia, Oculomotor apraxia |
ORPHA:459033 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Cognitive impairment, Dystonia... |
ORPHA:70594 |
Renal Hypoplasia |
|
Renal insufficiency, Urethral valve, Proteinuria, Recurrent urinary tract infections, Unilateral ... |
ORPHA:93101 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Confusion, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal titubat... |
OMIM:607483 |
Schwartz-Jampel Syndrome, Type 1 |
|
Waddling gait, Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Cervical kyphosis, Kyphosc... |
OMIM:255800 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis |
|
Thoracolumbar kyphosis, Kyphoscoliosis |
OMIM:236660 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Bilateral cryptorchidism, Bilateral ptosis, Cry... |
OMIM:619542 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Incoordination, Tremor, Paraparesis, Babinski sign, Dysmetria, Hand tremor, Distal sensory impair... |
OMIM:302800 |
Spermatogenic Failure 72 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:619867 |
Spermatogenic Failure 34 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm axoneme cent... |
OMIM:618153 |
Spermatogenic Failure, X-Linked, 5 |
|
Male infertility, Irregularly shaped sperm tail, Coiled sperm flagella, Reduced sperm motility, A... |
OMIM:301099 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... |
ORPHA:101150 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Oculom... |
OMIM:618060 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Dysmetria, Gait ataxia, Choreoathetosis, Dy... |
OMIM:604391 |
X-Linked Intellectual Disability, Hedera Type |
|
Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred speech, Unsteady gait... |
ORPHA:93952 |
Maternal Uniparental Disomy Of Chromosome 9 |
|
Hamstring contractures, Abnormal vertebral morphology, Kyphoscoliosis, Short neck |
ORPHA:96183 |
Leukodystrophy, Hypomyelinating, 17 |
|
Inability to walk, Flexion contracture, Kyphoscoliosis |
OMIM:618006 |
Intellectual Developmental Disorder, X-Linked 19 |
|
Scoliosis, Kyphoscoliosis |
OMIM:300844 |
Dent Disease 2 |
|
Chronic kidney disease, Hypercalciuria, Nephrocalcinosis, Aminoaciduria, Proximal tubulopathy, Lo... |
OMIM:300555 |
Joubert Syndrome 18 |
|
Kyphoscoliosis, Camptodactyly, Renal cyst, Horseshoe kidney |
OMIM:614815 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Apraxia, Ketonuria, Ataxia, Abnormality of the upper urinary tract, Bilateral ptosis, Renal tubul... |
ORPHA:99885 |
Mitochondrial Complex I Deficiency, Nuclear Type 8 |
|
Axial dystonia, Tetraparesis, Kyphoscoliosis, Dystonia |
OMIM:618230 |
Spermatogenic Failure 20 |
|
Male infertility, Absent sperm flagella, Short sperm flagella, Coiled sperm flagella |
OMIM:617593 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Depression, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Nephrotic Syndrome, Type 21 |
|
Diffuse mesangial sclerosis, Podocyte foot process effacement, Steroid-resistant nephrotic syndro... |
OMIM:618594 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Akinesia, Tremor, Abn... |
ORPHA:240071 |
Leukodystrophy, Hypomyelinating, 6 |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612438 |
Warburg Micro Syndrome 3 |
|
Lower limb spasticity, Kyphoscoliosis, Inability to walk, Flexion contracture, Spastic tetraplegi... |
OMIM:614222 |
Azoospermia, Obstructive, With Nephrolithiasis |
|
Male infertility, Nephrolithiasis, Obstructive azoospermia |
OMIM:301060 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking |
ORPHA:477673 |
Classic Phenylketonuria |
|
Tremor, Paraplegia, Depression, Hypertonia, Hemiplegia, Attention deficit hyperactivity disorder,... |
ORPHA:79254 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypertonia, Spasticity |
ORPHA:33445 |
Machado-Joseph Disease |
|
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... |
OMIM:109150 |
Spinocerebellar Ataxia Type 18 |
|
Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Dysdiadochokinesis, Limb dysmetria, Dysmetria, Gait ataxia |
ORPHA:324262 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Dementia, Shuffling gait... |
OMIM:311510 |
Spermatogenic Failure 46 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:619095 |
Spermatogenic Failure 33 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618152 |
Spermatogenic Failure 37 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:618429 |
Spermatogenic Failure 18 |
|
Male infertility, Coiled sperm flagella, Irregularly shaped sperm tail, Absent sperm flagella, Sh... |
OMIM:617576 |
Spermatogenic Failure 27 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:617965 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dementia, Gait disturbance, Myo... |
OMIM:168601 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,... |
OMIM:619317 |
Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Glomerular sclerosis, Incoordination, Scoliosis, Abnormal renal physiology |
OMIM:223900 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Generalized dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Abnormal pyramidal sign, Oroma... |
OMIM:614298 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
4H Leukodystrophy |
|
Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormality of extrapyram... |
ORPHA:289494 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Ataxia, Spastic tetraparesis, Babinski sign,... |
OMIM:618598 |
Manganese Poisoning |
|
Postural tremor, Confusion, Akinesia, Emotional lability, Depression, Irritability, Cogwheel rigi... |
ORPHA:306682 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Subco... |
ORPHA:157846 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... |
ORPHA:48431 |
Spermatogenic Failure 65 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619712 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Epicanthus, Telecanthus, Sparse eyelashes, Lipodystrophy, Kyphoscoliosis, Sparse eyebrow, Cryptor... |
ORPHA:75496 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ptosis, Slurred speech, Dysmetria, Tortuosity of conjunctival vessels, Limb ataxia, Ankle clonus,... |
ORPHA:284289 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Nephrotic syndrome, Proteinuria |
OMIM:614652 |
Pelizaeus-Merzbacher Disease |
|
Psychomotor deterioration, Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor... |
OMIM:312080 |
Myopathic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Foot joint contracture, Shoulder flexion contracture, Kyphoscoliosis... |
ORPHA:536516 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Spermatogenic Failure 30 |
|
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest |
OMIM:618110 |
Episodic Ataxia Type 1 |
|
Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, Tip-toe gait, Scoliosis |
ORPHA:37612 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Bradykinesia, Gait ataxia, Gait ... |
ORPHA:225147 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Unsteady gait, Ataxia, Scoliosis |
OMIM:300861 |
Sialidosis Type 1 |
|
Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Increased urinary O-linked sial... |
ORPHA:812 |
Lecithin:Cholesterol Acyltransferase Deficiency |
|
Renal insufficiency, Proteinuria |
OMIM:245900 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Dementia, Limb dystoni... |
OMIM:616840 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Synophrys, Camptodactyly, Scoliosis, Difficulty walking,... |
OMIM:300280 |
Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Rigidity, Irritability, Dystonia, Loss of ambulation |
OMIM:615010 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis |
OMIM:618453 |
Senior-Loken Syndrome 8 |
|
Global glomerulosclerosis, Glomerular subepithelial immune-complex deposits, Stage 5 chronic kidn... |
OMIM:616307 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Spastic tetraparesis |
OMIM:619470 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Impaired pain sensation, Inability to walk, Chorea, Kyphosis, Abnormal pyramidal sign, Gait ataxi... |
ORPHA:500180 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Spastic tetraplegia, Kyphoscoliosis |
OMIM:300886 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,... |
OMIM:617435 |
Spermatogenic Failure 43 |
|
Male infertility, Coiled sperm flagella, Absent sperm axoneme central pair complex, Absent sperm ... |
OMIM:618751 |
Spermatogenic Failure 49 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619144 |
Spermatogenic Failure 45 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:619094 |
Spermatogenic Failure 19 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced spe... |
OMIM:617592 |
Spermatogenic Failure 82 |
|
Male infertility, Coiled sperm flagella, Absent sperm flagella, Short sperm flagella, Reduced pro... |
OMIM:620353 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Kyphosis, Scoliosis, Ataxia, Gait disturbance |
ORPHA:85317 |
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome |
|
Reduced subcutaneous adipose tissue, Limb joint contracture, Hypogonadotropic hypogonadism, Kypho... |
OMIM:612079 |
Al Amyloidosis |
|
Renal insufficiency, Proteinuria, Abnormality of the kidney, Renal interstitial amyloid deposits,... |
ORPHA:85443 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Scoliosis, Spinal rigidity |
OMIM:618323 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Difficulty walking, Dystonia, Progressive ... |
ORPHA:401768 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Chorea, Gait ataxia, Progressive cerebellar ataxia... |
ORPHA:98756 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spermatogenic Failure 56 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Irregularly shaped sperm tail, Reduced ... |
OMIM:619515 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Ataxia |
OMIM:300619 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Denys-Drash Syndrome |
|
Diffuse mesangial sclerosis, Posterolateral diaphragmatic hernia, Epicanthus, Congenital diaphrag... |
OMIM:194080 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dementia, Dystonia, Sho... |
OMIM:168600 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking |
ORPHA:505652 |
Spinocerebellar Ataxia 13 |
|
Impaired distal vibration sensation, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressi... |
OMIM:605259 |
Igg4-Related Kidney Disease |
|
Renal insufficiency, Proteinuria, Dacryocystitis, Urinary bladder inflammation, Chronic kidney di... |
ORPHA:449395 |
Tetrasomy 15Q26 |
|
Kyphoscoliosis, Horseshoe kidney, Camptodactyly, Downslanted palpebral fissures, Hydronephrosis |
OMIM:614846 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Claw hand deformity, Kyphoscoliosis, Impaired distal proprioception, Impaired distal vibration se... |
OMIM:601455 |
Arthrogryposis Multiplex Congenita 5 |
|
Inguinal hernia, Kyphoscoliosis, Short neck, Akinesia, Flexion contracture, Elbow flexion contrac... |
OMIM:618947 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Urinary incontinence, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial ... |
OMIM:205100 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Thoracic kyphoscoliosis, Delayed vertebral ossification, Kyphoscoliosis, Short neck, F... |
OMIM:613330 |
Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Tremor, Kyphosis, Flexion contracture, Umbilical hernia, Nephropathy |
ORPHA:87876 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Limb myoclon... |
ORPHA:3095 |
Imerslund-Grasbeck Syndrome 1 |
|
Microscopic hematuria, Proteinuria |
OMIM:261100 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Steppage gait, Claw hand deformity, Fasciculations, Distal sensory impairment |
OMIM:606595 |
Oligomeganephronia |
|
Renal insufficiency, Proteinuria, Unilateral renal agenesis, Congenital diaphragmatic hernia, Glo... |
ORPHA:2260 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
ORPHA:1145 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Methylmalonic aciduria, Hypertonia, Gait disturbance, Hyperkinetic movements, Homocystinuria |
OMIM:236270 |
Emanuel Syndrome |
|
Sacral dimple, Multiple joint contractures, Hooded eyelid, Inguinal hernia, Unilateral renal agen... |
ORPHA:96170 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dementia, Parkinsonism with favorable respo... |
OMIM:607060 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Abnormal pyramidal sign, Myoclonus, Ataxia |
OMIM:612016 |
Partial Chromosome Y Deletion |
|
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... |
ORPHA:1646 |
Glycogen Storage Disease X |
|
Myoglobinuria, Renal insufficiency |
OMIM:261670 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus |
OMIM:162350 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Ataxia, Babinski sign, Gait ataxia, Elevated urine acetoacetic acid level, 3-Methylglutaconic aci... |
OMIM:620089 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency |
|
Atrophic scars, Hernia, Kyphoscoliosis |
ORPHA:300179 |
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Glomerular sclerosis, Nephropathy, Hemiparesis, Proteinuria |
ORPHA:247691 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Kyphosis, Cryptorchidism, Flexion contracture, Scoliosis, Arthrogryposis multiple... |
OMIM:618484 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Progressive psychomotor deterioration, Abnormal pyramida... |
ORPHA:363400 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Ataxia, Urinary incontinence, Myoclonus, Dystonia, Spasticity |
OMIM:620094 |
Spermatogenic Failure, X-Linked, 3 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Coiled sperm flagella, Absent s... |
OMIM:301059 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Systemic Sclerosis |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Abnormality of the kidney, Chronic kidney d... |
ORPHA:90291 |
Spermatogenic Failure 83 |
|
Male infertility, Altered location of the longitudinal column in the fibrous sheath, Reduced prog... |
OMIM:620354 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Myoclonus, Hand tremor |
OMIM:608105 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Male infertility, Renal insufficiency, Primary testicular failure, Proteinuria, Renal interstitia... |
ORPHA:85450 |
Glycogen Storage Disease Ia |
|
Proteinuria, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, D... |
OMIM:232200 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Bradykinesia, Poor fine motor coordination, Cognitive impairment |
ORPHA:36387 |
Early-Onset Lafora Body Disease |
|
Ataxia, Confusion, Spastic tetraparesis, Myoclonus, Mental deterioration |
ORPHA:324290 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Tremor, Cryptorchidism, Hyperkinetic movements, Gait disturbance, Microphallus, Spasticity |
OMIM:300957 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Fasciculations, Spasticity |
OMIM:602099 |
Spermatogenic Failure 29 |
|
Male infertility, Non-obstructive azoospermia, Immotile sperm |
OMIM:618091 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Ho... |
OMIM:615491 |
Mohr-Tranebjaerg Syndrome |
|
Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnormal pyramidal sign... |
ORPHA:52368 |
Spinocerebellar Ataxia 10 |
|
Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ata... |
OMIM:603516 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
Oculocutaneous Albinism Type 1B |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism, Melanocytic nevus, Basal... |
ORPHA:79434 |
Neuraminidase Deficiency |
|
Inguinal hernia, Urinary excretion of sialylated oligosaccharides, Proteinuria, Increased urinary... |
OMIM:256550 |
Spermatogenic Failure 25 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia |
OMIM:617960 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance |
ORPHA:1875 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Tubulointerstitial Kidney Disease, Autosomal Dominant, 1 |
|
Renal insufficiency, Renal tubular atrophy, Nephropathy, Nephritis, Decreased glomerular filtrati... |
OMIM:162000 |
Glycogen Storage Disease Xi |
|
Rigidity, Myoglobinuria, Renal insufficiency |
OMIM:612933 |
Classic Galactosemia |
|
Male infertility, Speech apraxia, Premature ovarian insufficiency, Ataxia, Incoordination, Postur... |
ORPHA:79239 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Renal insufficiency, Thoracic scoliosis, Hypospadias, Kyphoscoliosis, Short neck, Hemolytic-uremi... |
OMIM:611209 |
Renal Hypoplasia, Bilateral |
|
Proteinuria, Cryptorchidism, Chronic kidney disease, Oliguria, Renal hypoplasia, Renal cyst, Beta... |
ORPHA:97362 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Abnormal posturing, Increased susceptibility to fractures |
OMIM:304700 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck, Camptodact... |
OMIM:114300 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Renal insufficiency, Proteinuria, Congenital diaphragmatic hernia, Inability to walk, Stage 5 chr... |
OMIM:166300 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ambulation, Spasticity |
OMIM:607694 |
Spermatogenic Failure 54 |
|
Male infertility, Cryptozoospermia, Oligozoospermia, Coiled sperm flagella, Reduced sperm motilit... |
OMIM:619379 |
Cryoglobulinemia, Familial Mixed |
|
Hematuria, Chronic kidney disease, Proteinuria, Abnormal renal physiology |
OMIM:123550 |
Creutzfeldt-Jakob Disease |
|
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia |
OMIM:123400 |
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome |
|
Epicanthus, Broad-based gait, Dorsocervical fat pad, Kyphoscoliosis, Short neck, Synophrys, Scoli... |
ORPHA:391408 |
Leukodystrophy, Hypomyelinating, 3 |
|
Appendicular spasticity, Kyphoscoliosis, Abnormal pyramidal sign, Spastic paraparesis, Joint cont... |
OMIM:260600 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
Spermatogenic Failure 80 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Absent sperm flagella, Short sperm flag... |
OMIM:620222 |
Spermatogenic Failure 40 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Immotile sperm, Absent sperm flagella, ... |
OMIM:618664 |
Spermatogenic Failure 76 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Absent sperm flagella, Short sp... |
OMIM:620084 |
Spermatogenic Failure 58 |
|
Male infertility, Oligozoospermia, Irregularly shaped sperm tail, Immotile sperm, Short sperm fla... |
OMIM:619585 |
Charcot-Marie-Tooth Disease, Type 4B2 |
|
Difficulty walking, Steppage gait, Kyphoscoliosis, Distal sensory impairment |
OMIM:604563 |
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv |
|
Kyphoscoliosis |
OMIM:600384 |
Nephropathy-Deafness-Hyperparathyroidism Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:2668 |
Microphthalmia, Syndromic 13 |
|
Kyphoscoliosis, Ptosis |
OMIM:300915 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Frontotemporal dementia, Rigidity, Depression, Bradykinesia, Dyst... |
OMIM:168605 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Spermatogenic Failure 48 |
|
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Oligozoospermia |
OMIM:619108 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Elbow flexion contracture, Thoracic ... |
ORPHA:206546 |
Cervical Hypertrichosis With Underlying Kyphoscoliosis |
|
Kyphoscoliosis |
OMIM:117850 |
Melas |
|
Abnormal central motor function, Proteinuria, Ataxia, Hypogonadotropic hypogonadism, Hemiparesis,... |
ORPHA:550 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Global glomerulosclerosis, Renal insufficiency, Polyuria, Renal salt wasting, I... |
OMIM:602522 |
Dystonia 15, Myoclonic |
|
Writer's cramp, Myoclonus, Dystonia |
OMIM:607488 |
Mucopolysaccharidosis, Type Iiic |
|
Kyphoscoliosis, Heparan sulfate excretion in urine, Synophrys, Ovoid thoracolumbar vertebrae, Her... |
OMIM:252930 |
X-Linked Dominant Chondrodysplasia Punctata |
|
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Sparse eyelashes, Kyphoscoliosis, ... |
ORPHA:35173 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Musculocontractural Ehlers-Danlos Syndrome |
|
Abnormality of the cervical spine, Inguinal hernia, Cervical kyphosis, Kyphoscoliosis, Dysesthesi... |
ORPHA:2953 |
Glycine Encephalopathy 1 |
|
Hyperglycinuria, Myoclonus |
OMIM:605899 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Choreoathetosis, Cogwheel rig... |
ORPHA:225154 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... |
OMIM:277300 |
Epilepsy, Progressive Myoclonic, 10 |
|
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Dementia, Myoclonus, ... |
OMIM:616640 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Renal dysplasia, Abnormality of the urethra, Scarring alopecia of scalp, Flexion contracture, Atr... |
ORPHA:158684 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Inability to walk, Babinski sign, Tors... |
OMIM:128100 |
Ataxia-Telangiectasia-Like Disorder |
|
Ataxia, Hypergonadotropic hypogonadism, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myocl... |
ORPHA:251347 |
Fanconi Renotubular Syndrome 2 |
|
Renal insufficiency, Proteinuria, Generalized aminoaciduria, Hypercalciuria, Renal phosphate wast... |
OMIM:613388 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Fanconi Renotubular Syndrome 3 |
|
Low-molecular-weight proteinuria, Hyperphosphaturia, Aminoaciduria, Glycosuria |
OMIM:615605 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Myoc... |
ORPHA:442835 |
Spermatogenic Failure 22 |
|
Male infertility, Non-obstructive azoospermia, Cryptozoospermia |
OMIM:617706 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Hyperkinetic movements, Gait disturbance, Upper limb spasticity, Micropenis, Decreased te... |
ORPHA:457240 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis |
OMIM:618392 |
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis |
|
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, C... |
OMIM:618363 |
Mesangial Sclerosis, Diffuse Renal, With Ocular Abnormalities |
|
Diffuse mesangial sclerosis, Nephrotic syndrome, Renal insufficiency |
OMIM:249660 |
Paroxysmal Nocturnal Hemoglobinuria 1 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:300818 |
Spermatogenic Failure 42 |
|
Male infertility, Microcephalic sperm head, Coiled sperm flagella, Tapered sperm head, Absent spe... |
OMIM:618745 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Urinary incontinence, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ata... |
ORPHA:300605 |
Spermatogenic Failure 39 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Tapered sperm head, Absent sperm flagel... |
OMIM:618643 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Upslanted palpebral fissure, Impaired tactile sensation, Hypertonia,... |
OMIM:619092 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, Spastic paraparesis, ... |
OMIM:614487 |
48,Xxyy Syndrome |
|
Epicanthus, Hypoplasia of penis, Ataxia, Hypergonadotropic hypogonadism, Abnormal dental enamel m... |
ORPHA:10 |
Spinocerebellar Ataxia 27A |
|
Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abnormal vestibulo-ocula... |
OMIM:193003 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Nephritis, Myoclonus, Ataxia |
OMIM:274240 |
Arthrogryposis, Distal, Type 2A |
|
Short neck, Knee flexion contracture, Hernia, Spina bifida occulta, Wrist flexion contracture, Cr... |
OMIM:193700 |
Cutaneous Neuroendocrine Carcinoma |
|
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... |
ORPHA:79140 |
Migraine, Familial Hemiplegic, 2 |
|
Confusion, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia |
OMIM:602481 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive gait ataxia, Myo... |
ORPHA:254343 |
Alexander Disease Type Ii |
|
Ataxia, Rigidity, Babinski sign, Spasticity, Scoliosis, Spastic paraparesis, Palatal tremor, Urin... |
ORPHA:363722 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Synophrys, Kyphoscoliosis |
OMIM:615541 |
Dysspondyloenchondromatosis |
|
Kyphoscoliosis, Vertebral segmentation defect, Platyspondyly, Scoliosis, Anisospondyly |
ORPHA:85198 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Urinary incontinence, Impaired pain se... |
ORPHA:101085 |
Spermatogenic Failure 47 |
|
Male infertility, Oligozoospermia, Immotile sperm, Absent sperm flagella, Short sperm flagella |
OMIM:619102 |
Autoinflammatory-Pancytopenia Syndrome |
|
Lipodystrophy, Membranoproliferative glomerulonephritis, Proteinuria |
OMIM:619858 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Methylmalonic aciduria, Athetosis,... |
OMIM:612073 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Short neck, Synophrys, Upslanted palpebral fissure, Hyperkinetic movements, Long ... |
ORPHA:289522 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia, Ptosis |
OMIM:619422 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, Spasticity |
OMIM:617493 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Flexion contracture, Kyphoscoliosis |
OMIM:607855 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Steppage gait, Kyphoscoliosis, Distal sensory impairment |
OMIM:118220 |
Spermatogenic Failure, X-Linked, 6 |
|
Male infertility, Coiled sperm flagella, Reduced sperm motility, Absent sperm axoneme central pai... |
OMIM:301101 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Renal tubu... |
ORPHA:436271 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achille... |
OMIM:607155 |
Fanconi Renotubular Syndrome 5 |
|
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Glycosuria, Tubulointerstitial fibrosis |
OMIM:618913 |
Osteogenesis Imperfecta, Type Xiii |
|
Kyphoscoliosis, Enuresis nocturna, Platyspondyly, Long eyelashes, Scoliosis, Long palpebral fissu... |
OMIM:614856 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus, Short neck |
OMIM:612015 |
Isochromosomy Yp |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98797 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Proteinuria, Chronic kidney disease, Proximal renal tubular acidosis, Thickened glomerular baseme... |
OMIM:146255 |
Alport Syndrome 2, Autosomal Recessive |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:203780 |
Glycogen Storage Disease Ib |
|
Proteinuria, Nephrolithiasis, Xanthelasma, Focal segmental glomerulosclerosis, Enlarged kidney, D... |
OMIM:232220 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... |
OMIM:156530 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Cerebrooculofacioskeletal Syndrome 4 |
|
Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture, Knee flexion contracture, Abn... |
OMIM:610758 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Ank... |
OMIM:609541 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Cigarette-paper scars, Irregular vertebra... |
OMIM:612350 |
X-Linked Intellectual Disability, Snyder Type |
|
Unilateral ptosis, Hypospadias, Involuntary movements, Kyphoscoliosis, Ectopic kidney, Sparse eye... |
ORPHA:3063 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor ... |
ORPHA:99956 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Babinski sign, Spastic paraplegia, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Spermatogenic Failure 3 |
|
Male infertility, Reduced sperm motility |
OMIM:606766 |
Spermatogenic Failure, Y-Linked, 1 |
|
Male infertility, Reduced sperm motility |
OMIM:400042 |
Spermatogenic Failure 55 |
|
Male infertility, Reduced sperm motility |
OMIM:619380 |
Spermatogenic Failure 70 |
|
Male infertility, Azoospermia, Reduced sperm motility, Oligozoospermia |
OMIM:619828 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dementia, Gait imbalance, Shuffli... |
ORPHA:75567 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Kyphoscoliosis, Cryptorchidism, Flexion contracture, Elbow flexion contracture, Knee flexion cont... |
OMIM:214150 |
Severe Oculo-Renal-Cerebellar Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Spastic diplegia, Choreoathetosis, Scoliosis, S... |
ORPHA:2715 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dy... |
ORPHA:352596 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls |
OMIM:301020 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Epicanthus, Hypospadias, Renal agenesis, Kyphoscoliosis, Kyphosis, Cryptorchidism, Hemivertebrae,... |
OMIM:301040 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Gait ataxia, Distal sensory impairment, Hypertonia, Ste... |
OMIM:616505 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
Spinocerebellar Ataxia 1 |
|
Impaired vibratory sensation, Impaired pain sensation, Chorea, Babinski sign, Impaired propriocep... |
OMIM:164400 |
Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Kyphoscoliosis, Distal sensory impairment |
OMIM:607831 |
Lcat Deficiency |
|
Renal insufficiency, Proteinuria, Stage 5 chronic kidney disease, Acute kidney injury, Decreased ... |
ORPHA:650 |
Spinocerebellar Ataxia Type 42 |
|
Resting tremor, Urinary incontinence, Upper limb postural tremor, Unsteady gait, Babinski sign, G... |
ORPHA:458803 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Dysdiadoch... |
OMIM:277460 |
Male Infertility Due To Acephalic Spermatozoa |
|
Male infertility, Oligozoospermia, Acephalic spermatozoa, Abnormal sperm mid-piece morphology, Re... |
ORPHA:529970 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Fasciculations, Difficulty walking |
OMIM:615575 |
Fanconi Renotubular Syndrome 1 |
|
Impaired renal tubular reabsorption of phosphate, Renal insufficiency, Hyperphosphaturia, Lactica... |
OMIM:134600 |
Ddost-Cdg |
|
Tremor, Lipodystrophy, Oromotor apraxia, Nephrotic range proteinuria |
ORPHA:300536 |
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome |
|
Epicanthus, Tremor, Synophrys, Prominent protruding coccyx, Spastic diplegia, Long eyelashes, Abn... |
ORPHA:480907 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Odontochondrodysplasia 2 With Hearing Loss And Diabetes |
|
Hydronephrosis, Platyspondyly, Scoliosis, Moderate albuminuria, Dentinogenesis imperfecta |
OMIM:619269 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Spermatogenic Failure 79 |
|
Male infertility, Reduced sperm motility, Coiled sperm flagella, Oligozoospermia |
OMIM:620196 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Urinary incontinence, Rigidity, Babinski sign, Gait disturbance, Myoclonus, Dystonia |
OMIM:600795 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Oculogyric crisis, Kyphoscoliosis, Leg dystonia, Pseudobulbar paralysis, Lo... |
OMIM:607371 |
Spermatogenic Failure 7 |
|
Male infertility, Reduced sperm motility, Immotile sperm, Oligozoospermia |
OMIM:612997 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Attention deficit hyperactivity disorder |
OMIM:619556 |
Spermatogenic Failure 63 |
|
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia |
OMIM:619689 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Spermatogenic Failure 10 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:614822 |
Spermatogenic Failure 11 |
|
Male infertility, Abnormal sperm morphology, Reduced sperm motility, Oligozoospermia |
OMIM:615081 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Hypertonia, Hydroureter, Hydronephrosis, Myoclonus |
OMIM:618240 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Distal 16P11.2 Microdeletion Syndrome |
|
Proteinuria, Abnormality of the kidney, Renal agenesis, Kyphosis, Chronic kidney disease, Vesicou... |
ORPHA:261222 |
Hypocalcemia, Autosomal Dominant 1 |
|
Hypercalciuria, Nephrolithiasis, Nephrocalcinosis, Paresthesia, Decreased glomerular filtration rate |
OMIM:601198 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Babinski sign, Flexion co... |
OMIM:300232 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Premature ovarian insufficiency, Proteinuria, Ataxia, Hypergonadotropic hypogonadism, Almond-shap... |
OMIM:212065 |
Richieri Costa-Da Silva Syndrome |
|
Kyphoscoliosis, Short neck, Inability to walk, Vertebral wedging, Decreased anterioposterior diam... |
ORPHA:3101 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Cholestasis, Progressive Familial Intrahepatic, 12 |
|
Proteinuria |
OMIM:620010 |
Familial Mediterranean Fever, Autosomal Dominant |
|
Renal insufficiency, Proteinuria, Renal amyloidosis |
OMIM:134610 |
Spinocerebellar Ataxia Type 13 |
|
Torticollis, Urinary incontinence, Impaired distal vibration sensation, Limb ataxia, Titubation, ... |
ORPHA:98768 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements |
ORPHA:397933 |
Deafness, Autosomal Recessive 32, With Or Without Immotile Sperm |
|
Male infertility, Abnormal sperm morphology, Immotile sperm |
OMIM:608653 |
Spermatogenic Failure 41 |
|
Male infertility, Oligozoospermia, Tapered sperm head, Immotile sperm, Short sperm flagella |
OMIM:618670 |
Persistent Mullerian Duct Syndrome, Types I And Ii |
|
Male infertility, Bilateral cryptorchidism, Inguinal hernia |
OMIM:261550 |
Polycystic Kidney Disease 6 With Or Without Polycystic Liver Disease |
|
Renal insufficiency, Stage 5 chronic kidney disease, Polycystic kidney dysplasia, Decreased glome... |
OMIM:618061 |
Tyrosinemia, Type I |
|
Renal insufficiency, Periodic paralysis, Nephrocalcinosis, Renal Fanconi syndrome, Glomerular scl... |
OMIM:276700 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosis, Hyperkinetic movement... |
ORPHA:391428 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Coffin-Siris Syndrome 6 |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Kyphoscoliosis |
OMIM:617808 |
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset |
|
Speech apraxia, Ataxia, Dysmetria, Intention tremor |
OMIM:619352 |
Aa Amyloidosis |
|
Proteinuria, Abnormality of the kidney, Chronic kidney disease, Nephrotic syndrome, Renal amyloid... |
ORPHA:85445 |
Cerebrooculofacioskeletal Syndrome 2 |
|
Micropenis, Camptodactyly of finger, Kyphoscoliosis |
OMIM:610756 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Spastic ataxia, Epicanthus, Thoracic scoliosis, Torticollis, Kyphoscoliosis, Bilateral ptosis, In... |
ORPHA:300570 |
Metachromatic Leukodystrophy, Late Infantile Form |
|
Decreased nerve conduction velocity, Babinski sign, Spasticity, Clumsiness, Gait ataxia, Progress... |
ORPHA:309256 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior |
ORPHA:1020 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Steppage gait, Kyphoscoliosis, Distal sensory impairment |
OMIM:118200 |
Anti-Glomerular Basement Membrane Disease |
|
Hematuria, Glomerulopathy, Renal insufficiency, Proteinuria |
ORPHA:375 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonus, Spastic parapares... |
ORPHA:313772 |
Schindler Disease, Type I |
|
Increased urinary O-linked sialopeptides, Spasticity, Myoclonus |
OMIM:609241 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babinski sign, Clumsines... |
OMIM:617282 |
Thrombotic Thrombocytopenic Purpura |
|
Hematuria, Renal insufficiency, Acute kidney injury, Proteinuria |
ORPHA:54057 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Inguinal hernia, Kyphoscoliosis, Methioninuria, Scoliosis, Biconcave vertebral bodies, Homocystin... |
OMIM:236200 |
Developmental And Epileptic Encephalopathy 23 |
|
Double eyebrow, Telecanthus, Synophrys, Long eyelashes, Myoclonus, Thick eyebrow |
OMIM:615859 |
Oculocutaneous Albinism Type 2 |
|
Abnormality of retinal pigmentation, Hypopigmentation of hair, White eyelashes, White eyebrow, Ab... |
ORPHA:79432 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
Spinocerebellar Ataxia 36 |
|
Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, Tongue fasciculation... |
OMIM:614153 |
Preeclampsia |
|
Chronic kidney disease, Acute kidney injury, Proteinuria, Abnormality of the kidney |
ORPHA:275555 |
Spermatogenic Failure 78 |
|
Male infertility, Microcephalic sperm head, Tapered sperm head |
OMIM:620170 |
Hajdu-Cheney Syndrome |
|
Epicanthus, Telecanthus, Hypospadias, Inguinal hernia, Kyphoscoliosis, Short neck, Cryptorchidism... |
OMIM:102500 |
Papillorenal Syndrome |
|
Renal malrotation, Multicystic kidney dysplasia, Proteinuria, Absence of renal corticomedullary d... |
OMIM:120330 |
Developmental And Epileptic Encephalopathy 16 |
|
Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Tremor, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity |
ORPHA:529665 |
Chondrodysplasia Punctata 2, X-Linked Dominant |
|
Sparse eyelashes, Kyphoscoliosis, Short neck, Sparse eyebrow, Hemivertebrae, Punctate vertebral c... |
OMIM:302960 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Chst3-Related Skeletal Dysplasia |
|
Waddling gait, Highly arched eyebrow, Kyphoscoliosis, Sparse eyebrow, Flexion contracture, Abnorm... |
ORPHA:263463 |
Deafness-Infertility Syndrome |
|
Male infertility, Abnormal sperm tail morphology, Abnormal sperm head morphology, Abnormal sperma... |
OMIM:611102 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Alport Syndrome 3A, Autosomal Dominant |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Glomerulonephritis, S... |
OMIM:104200 |
Uridine 5-Prime Monophosphate Hydrolase Deficiency, Hemolytic Anemia Due To |
|
Hemoglobinuria |
OMIM:266120 |
Spermatogenic Failure 36 |
|
Male infertility, Abnormal sperm morphology |
OMIM:618420 |
Spermatogenic Failure 1 |
|
Male infertility, Cryptozoospermia, Oligozoospermia |
OMIM:258150 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Bradykinesia, Progre... |
ORPHA:98755 |
Ichthyosis, Mental Retardation, Dwarfism, And Renal Impairment |
|
Nephropathy, Decreased glomerular filtration rate |
OMIM:242530 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Kyphosis, Cryptorchidism, Babinski sign, Spasticity, Myoclonus, Scoliosis, Ev... |
ORPHA:364028 |
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome |
|
Synophrys, Premature ovarian insufficiency, Kyphoscoliosis, Scoliosis |
ORPHA:391307 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Myoglobinuria, Renal insufficiency, Ataxia |
ORPHA:713 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Telecanthus, Proteinuria, Camptodactyly of finger, Gait disturbance, Nephropathy |
ORPHA:2774 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Proteinuria, Chronic kidney disease, Tubulointerstitial nephritis, Nephrotic syndrome, Gait distu... |
ORPHA:488627 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Rigidity, Inability to walk, Athetosis, Gait disturbance, Myoclonus, Scoliosis, Loss of ambulation |
OMIM:618241 |
Myh9-Related Disease |
|
Renal insufficiency, Proteinuria, Menorrhagia, Nephropathy, Nephritis |
ORPHA:182050 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Frontal lobe de... |
ORPHA:97355 |
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome |
|
Squamous cell carcinoma of the skin |
ORPHA:85112 |
Huntington Disease |
|
Dystonia, Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Ba... |
ORPHA:399 |
Glycogen Storage Disease Ic |
|
Renal insufficiency, Proteinuria, Hematuria, Xanthelasma, Focal segmental glomerulosclerosis, Dec... |
OMIM:232240 |
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1 |
|
Epicanthus, Sparse eyelashes, Proteinuria, Sparse eyebrow, Hematuria, Tubulointerstitial nephriti... |
OMIM:616901 |
19P13.3 Microduplication Syndrome |
|
Epicanthus, Telecanthus, Unilateral cryptorchidism, Kyphoscoliosis, Upslanted palpebral fissure, ... |
ORPHA:447980 |
Oculocutaneous Albinism Type 1A |
|
Hypopigmentation of hair, Albinism, Ocular albinism, Basal cell carcinoma, Squamous cell carcinom... |
ORPHA:79431 |
Glycogen Storage Disease V |
|
Dark urine, Myoglobinuria |
OMIM:232600 |
Young-Onset Parkinson Disease |
|
Short attention span, Tremor, Rigidity, Depression, Frontal lobe dementia, Bradykinesia, Dementia... |
ORPHA:2828 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesis, Dystonia, Sp... |
OMIM:614381 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Membranoproliferative glomerulonephritis, Proteinuria, Abnormal dental enamel... |
ORPHA:251004 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Spasticity, Flexion contracture, Ataxia, Myoclonus |
OMIM:256730 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Babinski sign, Flexion contracture, Myoclonus, Truncal ataxia, Spasticity, Ptosis |
OMIM:252011 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Inguinal hernia, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebe... |
ORPHA:485350 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Stage 5 chronic kidney disease, Hematuria, Acute ... |
OMIM:612925 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Spondyloenchondrodysplasia With Immune Dysregulation |
|
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Spastic diplegia, Irregular... |
OMIM:607944 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Progressive Pseudorheumatoid Dysplasia |
|
Waddling gait, Camptodactyly of finger, Kyphoscoliosis, Joint contracture of the hand, Platyspond... |
OMIM:208230 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Renal insufficiency, Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial ne... |
ORPHA:228302 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus |
OMIM:619971 |
Mevalonic Aciduria |
|
Ataxia, Kyphoscoliosis, Progressive cerebellar ataxia, Downslanted palpebral fissures, Elevated u... |
OMIM:610377 |
Alagille Syndrome 2 |
|
Renal insufficiency, Proteinuria, Renal hypoplasia, Renal cyst, Hematuria, Renal tubular acidosis |
OMIM:610205 |
Distal Renal Tubular Acidosis |
|
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... |
ORPHA:18 |
Developmental And Epileptic Encephalopathy 1 |
|
Dystonia, Spastic tetraparesis, Abnormal pyramidal sign, Choreoathetosis, Hypertonia, Erratic myo... |
OMIM:308350 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
3-Methylglutaconic Aciduria Type 7 |
|
Renal insufficiency, Abnormal pyramidal sign, Renal cyst, Opisthotonus, Nephrocalcinosis, Choreoa... |
ORPHA:445038 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Epicanthus, Hypergonadotropic hypogonadism, Tremor, Hypoesthesia, P... |
OMIM:619737 |
Proximal 16P11.2 Microduplication Syndrome |
|
Sparse eyelashes, Congenital diaphragmatic hernia, Sparse eyebrow, Tremor, Hemivertebrae, Scolios... |
ORPHA:370079 |
Pontocerebellar Hypoplasia, Type 10 |
|
Highly arched eyebrow, Short neck, Kyphoscoliosis, Cryptorchidism, Synophrys, Long eyelashes, Lon... |
OMIM:615803 |
Neuroblastoma, Susceptibility To, 1 |
|
Elevated urinary catecholamine level, Ataxia, Elevated urinary dopamine level, Horner syndrome, A... |
OMIM:256700 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Renal insufficiency, Sparse eyelashes, Proteinuria, Sparse eyebrow, Nephrotic syndrome, Focal seg... |
OMIM:614748 |
3-Methylglutaconic Aciduria, Type Viib |
|
Ataxia, Tremor, Flexion contracture, Opisthotonus, Choreoathetosis, 3-Methylglutaconic aciduria, ... |
OMIM:616271 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
13Q12.3 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Impaired pain sensation, Kyphoscoliosis, Cryptorchidism, Upper e... |
ORPHA:412035 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Hyperphosphaturia, Proteinuria, Ataxia, Truncal ataxia, Renal tubular dysfunction, Aminoaciduria,... |
OMIM:220110 |
Short-Rib Thoracic Dysplasia 5 With Or Without Polydactyly |
|
Inguinal hernia, Proteinuria, Glomerulonephritis, Stage 5 chronic kidney disease, Renal hypoplasi... |
OMIM:614376 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Frontotemporal dementia, Rigidity, Parkinsonism with favorable response t... |
ORPHA:199351 |
Monosomy 18P |
|
Epicanthus, Generalized dystonia, Kyphoscoliosis, Short neck, Ptosis |
ORPHA:1598 |
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Nephrotic syndrome, Mucopolysacchariduria, Proteinuria |
OMIM:215250 |
Pontocerebellar Hypoplasia, Type 1E |
|
Elbow flexion contracture, Myoclonus, Knee flexion contracture |
OMIM:619303 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Short neck, Inability to walk, Kyphosis, Scoliosis, Difficulty walking |
OMIM:611890 |
Joint Laxity, Short Stature, And Myopia |
|
Umbilical hernia, Inguinal hernia, Cervical kyphosis, Kyphoscoliosis |
OMIM:617662 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Spermatogenic Failure 5 |
|
Male infertility, Multiflagellar spermatozoa, Macrozoospermia |
OMIM:243060 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Lumbar hyperlordosis, Recurrent myoglobinuria, Bilateral ptosis, Scoliosis, Loss o... |
ORPHA:254854 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612924 |
Spermatogenic Failure 44 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:619044 |
Spermatogenic Failure 21 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617644 |
Spermatogenic Failure 16 |
|
Male infertility, Acephalic spermatozoa, Reduced sperm motility |
OMIM:617187 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Paraparesis, Babinski sign, Progres... |
ORPHA:275872 |
Cockayne Syndrome Type 1 |
|
Lower limb spasticity, Renal insufficiency, Proteinuria, Ataxia, Scarring, Foot joint contracture... |
ORPHA:90321 |
Hypocomplementemic Urticarial Vasculitis |
|
Glomerulopathy, Renal insufficiency, Cerebral palsy, Proteinuria, Ataxia, Hemiplegia/hemiparesis,... |
ORPHA:36412 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Kyphoscoliosis, Inability to walk, Spastic tetraplegia, Contractures of the large joints, Steppag... |
ORPHA:324410 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
|
Squamous cell carcinoma of the skin, Verrucae |
OMIM:618309 |
Glycogen Storage Disease Due To Lactate Dehydrogenase Deficiency |
|
Myoglobinuria, Renal insufficiency |
ORPHA:2364 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ptosis, Ataxia, Urinary incontinence, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
Leigh Syndrome |
|
Multiple joint contractures, Chorea, Choreoathetosis, Complex organic aciduria, Ataxia, Renal tub... |
ORPHA:506 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Ataxia, Urinary incontinence, Loss of ability to walk in first decade, Flexion contracture, Hyper... |
OMIM:300243 |
Nail-Patella Syndrome |
|
Back pain, Impaired temperature sensation, Flexion contracture, Knee flexion contracture, Nephrit... |
ORPHA:2614 |
Galloway-Mowat Syndrome |
|
Abnormal intervertebral disk morphology, Proteinuria, Camptodactyly of finger, Hiatus hernia, Hem... |
ORPHA:2065 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... |
ORPHA:88628 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Inability to walk, Paraparesis, Oromotor apraxia... |
OMIM:617854 |
Phosphoglycerate Kinase 1 Deficiency |
|
Renal insufficiency, Ataxia, Exercise-induced myoglobinuria |
OMIM:300653 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Progressive neurologic deterioration, Tremor, Depression, Dementia, Fasciculations,... |
ORPHA:329478 |
Aceruloplasminemia |
|
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... |
ORPHA:48818 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Inability to walk by childhood/adolescence, Kyphoscoliosis, Distal sensory impairment |
OMIM:214400 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612923 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612922 |
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6 |
|
Anuria, Proteinuria, Hemolytic-uremic syndrome, Hematuria, Acute kidney injury |
OMIM:612926 |
Split Cord Malformation |
|
Back pain, Abnormal thoracic spine morphology, Neurogenic bladder, Low back pain, Hypospadias, Ur... |
ORPHA:573278 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Dent Disease 1 |
|
Renal insufficiency, Hyperphosphaturia, Chronic kidney disease, Stage 5 chronic kidney disease, N... |
OMIM:300009 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Arthrogryposis, Renal Dysfunction, And Cholestasis 2 |
|
Proteinuria, Nephrocalcinosis, Renal tubular acidosis, Aminoaciduria, Glycosuria, Nephropathy, Ar... |
OMIM:613404 |
Renal Dysplasia |
|
Abnormal renal calyx morphology, Urinary incontinence, Functional abnormality of the bladder, Ure... |
ORPHA:93108 |
Spermatogenic Failure 64 |
|
Male infertility, Oligozoospermia, Abnormal sperm head morphology, Reduced progressive sperm moti... |
OMIM:619696 |
Sneddon Syndrome |
|
Mental deterioration, Hemiplegia, Tremor, Impaired distal tactile sensation |
OMIM:182410 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Hypertonia, Unsteady gait, Myoclonus |
OMIM:610090 |
Tonne-Kalscheuer Syndrome |
|
Broad-based gait, Hypospadias, Congenital diaphragmatic hernia, Tremor, Cryptorchidism, Spasticit... |
OMIM:300978 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyramidal sign, Impaired propriocep... |
OMIM:606002 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Hypospadias, Ataxia, Tremor, Poor coordination, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Pontocerebellar Hypoplasia Type 4 |
|
Arthrogryposis multiplex congenita, Hypertonia, Myoclonus |
ORPHA:166063 |
Familial Peripheral Male-Limited Precocious Puberty |
|
Male infertility, Long penis, Macroorchidism, Oligozoospermia |
ORPHA:3000 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Limb ataxia, Hand tremor, Congenital contracture, Tongue fasciculations, Fasciculations |
OMIM:607596 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Somatic sensory dysfunction, Steppage gait, Fasciculations, Impaired distal tactile sensation |
OMIM:600882 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Limb joint contracture, Tremor, Cryptorchidism, Fasciculations, Hyd... |
OMIM:620327 |
Pontocerebellar Hypoplasia, Type 7 |
|
Epicanthus, Ataxia, Cryptorchidism, Synophrys, Spastic paraplegia, Spasticity, Opisthotonus, Chor... |
OMIM:614969 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Tremor, Babinski sign, Abnormal pyramidal sign, Impaired vibration sensation in the lower limbs, ... |
ORPHA:447753 |
Xfe Progeroid Syndrome |
|
Renal insufficiency, Premature ovarian insufficiency, Proteinuria, Poor coordination, Absence of ... |
OMIM:610965 |
Cystinosis |
|
Renal insufficiency, Proteinuria, Abnormal pyramidal sign, Renal tubular dysfunction, Aminoacidur... |
ORPHA:213 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Pyruvate Dehydrogenase Deficiency |
|
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Upslanted palpebral fissure,... |
ORPHA:765 |
Myoglobinuria, Acute Recurrent, Autosomal Recessive |
|
Myoglobinuria, Acute kidney injury |
OMIM:268200 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Neurogenic bladder, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Monosomy 18Q |
|
Epicanthus, Kyphoscoliosis, Bilateral cryptorchidism, Poor coordination, Choreoathetosis, Atlanto... |
ORPHA:1600 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Hypospadias, Tremor, Kyphosis, Cryptorchidism, Gait ataxia, Hypogonadism, Micropenis, Decreased t... |
OMIM:300354 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Pilomatrixoma |
|
Pilomatrixoma |
OMIM:132600 |
Spermatogenic Failure 53 |
|
Male infertility, Tapered sperm head |
OMIM:619258 |
Spermatogenic Failure 31 |
|
Male infertility, Acephalic spermatozoa |
OMIM:618112 |
Spermatogenic Failure 26 |
|
Male infertility, Acephalic spermatozoa |
OMIM:617961 |
Congenital Disorder Of Glycosylation, Type Iif |
|
Aminoaciduria, Proteinuria, Ataxia |
OMIM:603585 |
X-Linked Intellectual Disability, Cabezas Type |
|
Epicanthus, Hypoplasia of penis, Broad-based gait, Inguinal hernia, Camptodactyly of finger, Shor... |
ORPHA:85293 |
Amish Nemaline Myopathy |
|
Tremor |
ORPHA:98902 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Cryptorchidism, Babinski sign, Spastic tetraplegia, Spasticity, Opisthoto... |
OMIM:619847 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Primary ame... |
OMIM:617675 |
Ohdo Syndrome |
|
Epicanthus, Proteinuria, Sparse eyebrow, Cryptorchidism, Blepharophimosis, Ptosis |
OMIM:249620 |
Primary Hyperoxaluria Type 1 |
|
Hyperoxaluria, Recurrent urinary tract infections, Dysuria, Nephrolithiasis, Stage 5 chronic kidn... |
ORPHA:93598 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Unsteady gait, Babinski sign, Spastic diplegi... |
ORPHA:401866 |
Wolfram Syndrome 1 |
|
Neurogenic bladder, Hydroureter, Ataxia, Tremor, Testicular atrophy, Hydronephrosis, Ptosis |
OMIM:222300 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Epicanthus, Generalized dystonia, Ataxia, Clonus, Synophrys, Oculomotor apraxia, Babinski sign, A... |
OMIM:618076 |
Joubert Syndrome With Renal Defect |
|
Renal insufficiency, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Scoliosis, Oculomot... |
ORPHA:220497 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Tip-toe g... |
ORPHA:98914 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Waddling gait, Ataxia, Kyphoscoliosis, Spinal rigidity, Tip-toe g... |
ORPHA:590 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Hyperphosphaturia, Kyphoscoliosis, Horseshoe kidney |
OMIM:163200 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Alkaptonuria |
|
Vertebral fusion, Low back pain, Kyphosis, Elevated urinary homogentisic acid, Nephrolithiasis, D... |
OMIM:203500 |
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant |
|
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... |
OMIM:184100 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Polyuria, Proximal tubulopathy, Myoclonus, Ptosis |
OMIM:560000 |
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young |
|
Hyperphosphaturia, Proteinuria, Nephrocalcinosis, Aminoaciduria, Glycosuria |
OMIM:616026 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Hyperkinetic movements, Difficulty walking, Scoliosis |
ORPHA:369847 |
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly |
|
Epicanthus, Kyphoscoliosis, Sparse eyebrow, Synophrys, Downslanted palpebral fissures |
OMIM:620075 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Cognitive impairment, Spasticity |
ORPHA:100 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Babinski sign, Prominent eyelashes, Upslanted palpebral fissure, Hyperkinetic ... |
OMIM:616420 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus |
OMIM:204200 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Urinary incontinence, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Spasticity |
OMIM:221770 |
48,Xxxy Syndrome |
|
Decreased testicular size, Epicanthus, Hypoplasia of penis, Inguinal hernia, Abnormal dental enam... |
ORPHA:96263 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Spastic tetraplegia |
OMIM:618237 |
Crisponi/Cold-Induced Sweating Syndrome 1 |
|
Kyphoscoliosis, Short neck, Elbow flexion contracture, Opisthotonus, Camptodactyly |
OMIM:272430 |
Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Hypertonia, Myoclonus, Congenital contracture |
OMIM:225753 |
Riboflavin Transporter Deficiency |
|
Ataxia, Tremor, Hypogonadism, Myoclonus, Ptosis |
ORPHA:97229 |
Mitochondrial Dna Depletion Syndrome 19 |
|
Hypospadias, Hydrocele testis, Myoclonus, Tetraparesis, Spasticity |
OMIM:618972 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Short neck, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Hereditary Hyperekplexia |
|
Ataxia, Hiatus hernia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Hernia,... |
ORPHA:3197 |
Ogden Syndrome |
|
Global glomerulosclerosis, Epicanthus, Torticollis, Inguinal hernia, Abnormal eyelid morphology, ... |
OMIM:300855 |
Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Umbilical hernia, Downslanted palpebra... |
ORPHA:2143 |
Xeroderma Pigmentosum, Complementation Group C |
|
Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Actinic keratosis,... |
OMIM:278720 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Waddling gait, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Elbow flexion cont... |
OMIM:184252 |
Central Core Disease |
|
Multiple joint contractures, Kyphoscoliosis |
ORPHA:597 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Knee ... |
ORPHA:1143 |
Baralle-Macken Syndrome |
|
Inability to walk, Spasticity, Kyphosis |
OMIM:619255 |
Peho-Like Syndrome |
|
Epicanthus, Myoclonus |
OMIM:617507 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Tay-Sachs Disease |
|
Short attention span, Exaggerated startle response, Incoordination, Dystonia, Frequent falls, Tre... |
ORPHA:845 |
Metachromatic Leukodystrophy, Juvenile Form |
|
Decreased nerve conduction velocity, Babinski sign, Spasticity, Clumsiness, Progressive gait atax... |
ORPHA:309263 |
Spermatogenic Failure 81 |
|
Male infertility, Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia |
OMIM:620277 |
Gitelman Syndrome |
|
Proteinuria, Urinary incontinence, Decreased urinary potassium, Paralysis, Tubulointerstitial nep... |
ORPHA:358 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... |
ORPHA:97349 |
Kallmann Syndrome |
|
Dyspareunia, Hypoplasia of penis, Renal agenesis, Ataxia, Hypogonadotropic hypogonadism, Tremor, ... |
ORPHA:478 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... |
ORPHA:93284 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Chorea, Myoclonus, Ptosis |
OMIM:617235 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Low back pain, Babinski sign, Fasciculations, Ptosis |
OMIM:619733 |
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder |
|
Duplicated collecting system, Hip contracture, Ataxia, Kyphoscoliosis, Inability to walk, Knee fl... |
ORPHA:488642 |
Becker Muscular Dystrophy |
|
Abnormal urinary color, Tip-toe gait, Falls, Difficulty walking, Myoglobinuria |
ORPHA:98895 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Sparse eyebrow, Kyphosis, Gait ataxia, Upslanted palpebral ... |
ORPHA:457359 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Depression, Bradykinesia, Dementia, Low frustra... |
ORPHA:411602 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Sacral dimple, Kyphoscoliosis, Cryptorchidism, Upslanted palpebral fissure, Camptodactyly, Umbili... |
OMIM:616331 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Ptosis |
OMIM:312170 |
Nephrolithiasis, Calcium Oxalate, 2, With Or Without Nephrocalcinosis |
|
Nephrocalcinosis, Hyperoxaluria, Nephrolithiasis, Hypocitraturia |
OMIM:620374 |
Alagille Syndrome 1 |
|
Duplicated collecting system, Multiple small medullary renal cysts, Hemivertebrae, Stage 5 chroni... |
OMIM:118450 |
Atherosclerosis, Premature, With Deafness, Nephropathy, Diabetes Mellitus, Photomyoclonus, And Degenerative Neurologic Disease |
|
Nephropathy, Proteinuria, Renal artery stenosis |
OMIM:209010 |
Marinesco-Sjogren Syndrome |
|
Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity |
OMIM:248800 |
Paternal Uniparental Disomy Of Chromosome 5 |
|
Kyphoscoliosis, Renal duplication |
ORPHA:96190 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Spastic tetraparesis, Lacticaciduria, Hypergly... |
OMIM:605711 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia,... |
ORPHA:171695 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Xanthine nephrolithiasis, Spastic tetraparesis, Increased urinary sulfite level, Absent urinary u... |
OMIM:252150 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
|
Increased level of hippuric acid in urine, Glutaric aciduria, 3-Methylglutaric aciduria, Organic ... |
OMIM:246450 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Limb hypertonia |
OMIM:617162 |
Acrorenal-Mandibular Syndrome |
|
Epicanthus, Renal agenesis, Kyphoscoliosis, Congenital diaphragmatic hernia, Abnormality of the u... |
OMIM:200980 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus |
ORPHA:263516 |
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome |
|
Tremor, Progressive neurologic deterioration |
ORPHA:276608 |
Nail-Patella Syndrome |
|
Back pain, Renal insufficiency, Lumbar hyperlordosis, Proteinuria, Glomerulonephritis, Antecubita... |
OMIM:161200 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
49,Xxxxy Syndrome |
|
Decreased testicular size, Epicanthus, Hypoplasia of penis, Abnormal dental enamel morphology, Sh... |
ORPHA:96264 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Impaired distal vibration sensation, Distal sensory impairment, Steppage gait, Tip-toe gait, Fasc... |
OMIM:614436 |
Familial Multinodular Goiter |
|
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Ovarian neoplasm, Basal cell ... |
ORPHA:276399 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus, Ptosis |
OMIM:618225 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Epicanthus, Telecanthus, Proteinuria, Lumbar hyperlordosis, Short neck, Heparan sulfate excretion... |
ORPHA:505248 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Intention tremor, Myoclonus, Ptosis |
OMIM:610539 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Hyperlordosis, Abnormality of the vertebral column, Fasciculations, Urinary bladde... |
ORPHA:52430 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Depression, Mental deterioration, Memory impairment |
ORPHA:79095 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Dysmetria |
OMIM:615578 |
Pontocerebellar Hypoplasia, Type 1D |
|
Epicanthus, Multiple joint contractures, Short neck, Flexion contracture, Tongue fasciculations, ... |
OMIM:618065 |
Isochromosomy Yq |
|
Male infertility, Azoospermia, Decreased testicular size |
ORPHA:98798 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Difficulty walking, Scoliosis, Frequent ... |
OMIM:606612 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hypertonia, Lim... |
OMIM:618056 |
Myopathy With Extrapyramidal Signs |
|
Epicanthus, Ataxia, Clonus, Short neck, Tremor, Chorea, Clumsiness, Choreoathetosis, Abnormality ... |
OMIM:615673 |
Machado-Joseph Disease Type 1 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276241 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Orthostatic Hypotension 2 |
|
Decreased glomerular filtration rate |
OMIM:618182 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Lethargy, Abnormal posturing, Failure to thrive |
OMIM:614857 |
De Barsy Syndrome |
|
Epicanthus, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Athetosis, Progressiv... |
ORPHA:2962 |
Mepan Syndrome |
|
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Gait disturbance, Myoclonus, Limb dystoni... |
ORPHA:508093 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Ataxia, Babinski sign, Dysmetria, Dysdiadochokinesis, Hypertonia, Myoclonus, Intention tremor |
OMIM:618356 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Cryptorchidism, Moderate albuminuria, Hypogonadism, Ptosis |
OMIM:614231 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Myoclonus |
OMIM:609056 |
Fabry Disease |
|
Renal insufficiency, Proteinuria, Urinary mulberry cells, Paresthesia, Fasciculations, Lipiduria |
OMIM:301500 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Ring Chromosome Y Syndrome |
|
Male infertility, Streak ovary, Hypospadias, Unilateral cryptorchidism, Female infertility, Crypt... |
ORPHA:261529 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Athetosis, Hypertonia, Dystonia, Limb hypertonia |
OMIM:617710 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Abnormal penis morphology, Symblepharon, Trichiasis, Dysuria, Renal tubular epithelial necrosis, ... |
ORPHA:95455 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 1 |
|
Nephrocalcinosis, Joint contracture, Kyphoscoliosis |
OMIM:618005 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Fasciculations, Distal sensory impairment |
OMIM:137200 |
Carpenter Syndrome |
|
Cryptorchidism, Umbilical hernia, Kyphoscoliosis |
ORPHA:65759 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis |
OMIM:618138 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
D-Glyceric Aciduria |
|
Chorea, Hyperglycinuria, Spasticity, Myoclonus |
ORPHA:941 |
Leiomyomatosis, Diffuse, With Alport Syndrome |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:308940 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inability to walk, Chorea... |
OMIM:615356 |
Leopard Syndrome 1 |
|
Epicanthus, Hypospadias, Unilateral renal agenesis, Short neck, Kyphoscoliosis, Cryptorchidism, D... |
OMIM:151100 |
Lymphedema-Distichiasis Syndrome |
|
Ptosis, Glomerulopathy, Recurrent urinary tract infections, Proteinuria, Renal duplication, Tubul... |
ORPHA:33001 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Kyphosis, Scoliosis, Hyperlordosis |
OMIM:255200 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Proteinuria, Hemolytic-uremic syndrome, Tremor, Microscopic hematuria, Abnormal renal physiology |
OMIM:274150 |
Abetalipoproteinemia |
|
Impaired vibratory sensation, Broad-based gait, Ataxia, Kyphoscoliosis, Impaired distal proprioce... |
ORPHA:14 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Distal sensory impairment, Gait disturbance, Fasciculations |
OMIM:604484 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Kyphosis, Choreoathetosis, Gait disturbance, Scoliosis, Spasticity |
ORPHA:702 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Neurogenic bladder, Dystonia, Ataxia, Urinary incontinence, Sparse eyebrow, Tetraplegia, Upslante... |
ORPHA:496641 |
Glycogen Storage Disease Due To Liver Glycogen Phosphorylase Deficiency |
|
Proteinuria, Abnormality of the kidney |
ORPHA:369 |
Tatton-Brown-Rahman Syndrome |
|
Kyphoscoliosis, Cryptorchidism, Narrow palpebral fissure, Umbilical hernia, Thick eyebrow |
ORPHA:404443 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Ptosis, Epicanthus, Inguinal hernia, Kyphoscoliosis, Bladder diverticulum, Platyspondyly, Progres... |
OMIM:225400 |
Neutral Lipid Storage Disease With Myopathy |
|
Fasciculations, Difficulty walking |
OMIM:610717 |
Arthrogryposis And Ectodermal Dysplasia |
|
Absent eyebrow, Entropion, Abnormal dental enamel morphology, Trichiasis, Kyphoscoliosis, Atypica... |
OMIM:601701 |
Methylmalonic Aciduria And Homocystinuria, Cblc Type |
|
Renal insufficiency, Proteinuria, Hemolytic-uremic syndrome, Cystathioninuria, Tremor, Methylmalo... |
OMIM:277400 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Flexion contracture, Kyphoscoliosis |
OMIM:616470 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Lower limb spasticity, Babinski sign, Ankle clonus, Fasciculations, Tetraparesis, Difficulty walk... |
OMIM:613954 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Abnormal social behavior |
ORPHA:444002 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Developmental And Epileptic Encephalopathy 89 |
|
Omphalocele, Highly arched eyebrow, Sparse eyebrow, Flexion contracture, Upslanted palpebral fiss... |
OMIM:619124 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Babinski sign, Gait disturbance, Myoclonus, Apraxia |
OMIM:618193 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Inguinal hernia, Ataxia, Abnormality of the kidney, Abnormal form of the v... |
ORPHA:93399 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Choreoathetosis, Spastic tetraplegia |
OMIM:612164 |
Metachromatic Leukodystrophy, Adult Form |
|
Decreased nerve conduction velocity, Chorea, Babinski sign, Spasticity, Clumsiness, Progressive s... |
ORPHA:309271 |
Developmental And Epileptic Encephalopathy 109 |
|
Crouch gait, Myoclonus, Spasticity, Gait ataxia |
OMIM:620145 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Action tremor, Heparan sulfate excretion in urine, Cho... |
OMIM:615273 |
Tetanus |
|
Elevated urinary norepinephrine level, Tremor, Rigidity, Elevated urinary epinephrine level, Opis... |
ORPHA:3299 |
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type |
|
Proteinuria, Stage 5 chronic kidney disease |
OMIM:219900 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Inguinal hernia, Membranoproliferative glomerulonephritis, Microscopic hematuria, Scoliosis, Mode... |
OMIM:619525 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Vertebral wedging, Kyphoscoliosis |
OMIM:255710 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cryptorchidism, Hypoplasia of penis, Myoclonus |
ORPHA:168593 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Omphalocele, Epicanthus, Streak ovary, Hypospadias, Kyphoscoliosis, Cryptorchidism, Micropenis, U... |
OMIM:618820 |
Martin-Probst Syndrome |
|
Epicanthus, Renal insufficiency, Telecanthus, Proteinuria, Cryptorchidism, Narrow palpebral fissu... |
OMIM:300519 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Gardner Syndrome |
|
Neoplasm of the pancreas, Astrocytoma, Brain neoplasm, Adrenocortical carcinoma, Pilomatrixoma, M... |
ORPHA:79665 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Cryoglobulinemic Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Keratoconjunctivitis sicca |
ORPHA:91138 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Waddling gait, Ketonuria, Spasticity, 3-Methylglutaconic aciduria, Difficulty walking, Myoglobinu... |
OMIM:251900 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Athetosis, Dementia, Cogniti... |
ORPHA:25 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Broad-based gait, Kyphoscoliosis, Short neck, Sparse eyebrow, Cryptorchidism, Synophrys, Scoliosi... |
OMIM:309583 |
Non-Functioning Paraganglioma |
|
Elevated urinary norepinephrine level, Tremor, Elevated urinary dopamine level, Vocal cord paraly... |
ORPHA:94080 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Contractural Arachnodactyly, Congenital |
|
Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Elbow flexion contracture... |
OMIM:121050 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Telecanthus, Inability to walk, Synophrys, Long eyelashes, Myoclonus, Thick eyebrow |
ORPHA:411986 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Waddling gait, Cervical platyspondyly, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Sparse eyebrow, Epiblepharon, Tremor, Cryptorchidism, Tip-toe gait, D... |
OMIM:617557 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Waddling gait, Epicanthus, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, Bladder div... |
OMIM:614557 |
Renal Hypodysplasia/Aplasia 1 |
|
Bilateral renal agenesis, Proteinuria, Renal dysplasia, Primary amenorrhea |
OMIM:191830 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Urinary incontinence, Impaired temperature sensation, Impot... |
OMIM:268800 |
Distal Deletion 12Q |
|
Telecanthus, Unilateral cryptorchidism, Kyphoscoliosis, Ectopic kidney, Short neck, Impaired pain... |
ORPHA:96149 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Babinski sign, Spastic paraplegia, Tip-toe gait, Gait disturbance |
ORPHA:83629 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Spasticity |
ORPHA:352490 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Abnormal location of the eyebrow, Ataxia, Dystonia, Progressive... |
ORPHA:522077 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Waddling gait, Myoglobinuria, Difficulty walking, Broad-based gait |
ORPHA:119 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Upslanted palpebral fissure, Hypertonia, Myoclonus |
OMIM:617290 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Renal insufficiency, Renal hypoplasia, Renal cyst, Renal tubular acidosis, Tongue fasciculations,... |
OMIM:614922 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Epicanthus, Congenital kyphoscoliosis, Inguinal hernia, Kyphoscoliosis, Synophrys, Atlantoaxial i... |
ORPHA:536545 |
Dyschondrosteosis-Nephritis Syndrome |
|
Hematuria, Nephropathy, Proteinuria |
ORPHA:1765 |
Arima Syndrome |
|
Ptosis, Proteinuria, Polyuria, Ataxia, Stage 5 chronic kidney disease, Hematuria, Renal corticome... |
OMIM:243910 |
Wilson Disease |
|
Limb dystonia, Hyperphosphaturia, Dystonia, Proteinuria, Poor motor coordination, Tremor, Hypoest... |
OMIM:277900 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Cerebral palsy, Hypertonia, Scoliosis |
OMIM:615834 |
Flynn-Aird Syndrome |
|
Kyphosis, Ataxia, Scoliosis, Impaired pain sensation |
ORPHA:2047 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Irritabil... |
OMIM:601104 |
Serotonin Syndrome |
|
Confusion, Clonus, Tremor, Rigidity, Irritability, Hypertonia, Myoclonus, Mental deterioration, D... |
ORPHA:43116 |
Phosphoserine Aminotransferase Deficiency |
|
Hypertonia, Myoclonus |
OMIM:610992 |
12Q14 Microdeletion Syndrome |
|
Ectopic kidney, Tremor, Synophrys, Renal hypoplasia, Horseshoe kidney, Scoliosis, Thick eyebrow |
ORPHA:94063 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Neurogenic bladder, Myoclonus, Scoliosis, Dystonia |
OMIM:617669 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Wide penis, Hypoplastic vertebral bodies, Hypertonia, Vesicoureteral reflux, D... |
ORPHA:3455 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Sparse eyebrow, Kyphosis, Tremor, In... |
OMIM:617988 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Flexion contracture, Blepharophimosis, Short palpeb... |
OMIM:608149 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Myoglobinuria |
OMIM:602199 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Vocal cord paralysis, Clumsiness, Ankle clonus, Gait imbalance, Tongue fascicul... |
OMIM:211530 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Acrootoocular Syndrome |
|
Epicanthus, Kyphoscoliosis, Grayish enamel, Blepharophimosis, Downslanted palpebral fissures |
ORPHA:2980 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Congenital Hyperinsulinism Due To Hnf4A Deficiency |
|
Tremor, Renal Fanconi syndrome, Proteinuria, Glycosuria |
ORPHA:263455 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Dementia, Ataxia |
OMIM:278760 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus |
ORPHA:2382 |
Joubert Syndrome With Hepatic Defect |
|
Multicystic kidney dysplasia, Renal insufficiency, Ataxia, Inguinal hernia, Highly arched eyebrow... |
ORPHA:1454 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Ventral hernia, Thoracic scoliosis, Sacral dimple, Widened atrophic scar, Inguinal hernia, Kyphos... |
ORPHA:536532 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Proteinuria, Cryptorchidism, Multiple bladder diverticula, Blepharophimosis, Ptosis |
ORPHA:2728 |
Geroderma Osteodysplasticum |
|
Kyphoscoliosis, Vertebral compression fracture, Irregular vertebral endplates, Platyspondyly, Bic... |
OMIM:231070 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Renal insufficiency, Chronic kidney disease, Nephrolithiasis, Hypercalciuria, Nephrocalcinosis, R... |
OMIM:300554 |
Ciliary Dyskinesia, Primary, 50 |
|
Male infertility, Reduced progressive sperm motility, Coiled sperm flagella, Short sperm flagella... |
OMIM:620356 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor |
OMIM:605355 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis |
|
Bilateral cryptorchidism, Opisthotonus, Mild proteinuria |
OMIM:619685 |
Apc-Related Attenuated Familial Adenomatous Polyposis |
|
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... |
ORPHA:247806 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Inguinal hernia, Streak ovary, Hypospadias, Nephroblastoma, Kyphoscolios... |
ORPHA:798 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Speech apraxia, Epicanthus, Torticollis, Hemidystonia, Tremor, Enuresis nocturna, Upslanted palpe... |
OMIM:619680 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Fasciculations |
OMIM:608030 |
Cornelia De Lange Syndrome 1 |
|
Inguinal hernia, Hypospadias, Proteinuria, Highly arched eyebrow, Curly eyelashes, Ectopic kidney... |
OMIM:122470 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Proteinuria, Sparse eyebrow, Flexion contracture, Generalized lipodystrophy, Focal segmental glom... |
OMIM:619127 |
Lesch-Nyhan Syndrome |
|
Nephrolithiasis, Opisthotonus, Nephrocalcinosis, Choreoathetosis, Hyperuricosuria, Abnormality of... |
OMIM:300322 |
Machado-Joseph Disease Type 3 |
|
Neurogenic bladder, Facial-lingual fasciculations, Babinski sign, Vocal cord paralysis, Abnormal ... |
ORPHA:276244 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 2 |
|
Spasticity, Dementia, Ataxia, Intention tremor |
OMIM:117300 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ketonuria, Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia,... |
OMIM:616878 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Renal neoplasm, Torticollis, Congenital kyphoscoliosis, Multiple joint contractures, Ovoid verteb... |
ORPHA:536467 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Dark urine, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Chronic kidney disease, Acut... |
ORPHA:368 |
Distal Limb Deficiencies-Micrognathia Syndrome |
|
Cryptorchidism, Renal insufficiency, Proteinuria, Renal hypoplasia |
ORPHA:1307 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Resting tremor, Ataxia, Babinski sign, Depression, Head tremor, Mental deterioration, Memory impa... |
ORPHA:314404 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:181405 |
Alport Syndrome 1, X-Linked |
|
Renal insufficiency, Glomerular basement membrane lamellation, Proteinuria, Stage 5 chronic kidne... |
OMIM:301050 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Epicanthus, Ataxia, Highly arched eyebrow, Short neck, Oculomotor apraxia, Upslanted palpebral fi... |
ORPHA:247262 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Rett Syndrome |
|
Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity |
OMIM:312750 |
Renal Cysts And Diabetes Syndrome |
|
Multiple glomerular cysts, Hypospadias, Proteinuria, Unilateral renal agenesis, Abnormality of th... |
OMIM:137920 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Entropion, Kyphoscoliosis, Bilateral crypto... |
OMIM:617403 |
Osteogenesis Imperfecta, Type Xi |
|
Kyphoscoliosis, Vertebral wedging, Biconcave vertebral bodies, Scoliosis, Vertebral compression f... |
OMIM:610968 |
Lamb-Shaffer Syndrome |
|
Abnormal social behavior, Ataxia, Upper motor neuron dysfunction |
ORPHA:530983 |
Dystonia-Aphonia Syndrome |
|
Generalized dystonia, Unsteady gait, Abnormal urinary odor, Gait disturbance, Myoclonus, Oromandi... |
ORPHA:412217 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Multiple joint contractures, Hypospadias, Camptodactyly of finger, Unilateral renal agenesis, Ank... |
ORPHA:468631 |
Heme Oxygenase 1 Deficiency |
|
Hematuria, Chemosis, Nephritis, Proteinuria |
OMIM:614034 |
Myoclonic-Astatic Epilepsy |
|
Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Abnormal emotion, Attention deficit hyper... |
ORPHA:1942 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
|
Abnormal renal tubular resorption, Hypercalciuria, Hyperprostaglandinuria, Nephrocalcinosis, Hype... |
ORPHA:73224 |
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness |
|
Hyperchloriduria, Renal insufficiency, Polyuria, Increased urinary potassium, Renal salt wasting,... |
OMIM:613090 |
Ane Syndrome |
|
Lipoatrophy, Multiple joint contractures, Hypogonadotropic hypogonadism, Kyphoscoliosis |
ORPHA:157954 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Multiple Endocrine Neoplasia Type 2 |
|
Reduced subcutaneous adipose tissue, Elevated urinary catecholamine level, Kyphoscoliosis, Elevat... |
ORPHA:653 |
Renal Nutcracker Syndrome |
|
Dyspareunia, Proteinuria, Dysmenorrhea, Hematuria, Renal artery stenosis, Infertility, Microscopi... |
ORPHA:71273 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Pilomatrixoma |
|
Pilomatrixoma, Neoplasm of head and neck |
ORPHA:91414 |
Simple Cryoglobulinemia |
|
Renal insufficiency, Membranoproliferative glomerulonephritis, Proteinuria, Abnormality of the ki... |
ORPHA:91139 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Legionnaires Disease |
|
Renal insufficiency, Proteinuria, Ataxia, Hematuria, Cellulitis |
ORPHA:549 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Argininuria, Spastic dipl... |
ORPHA:2203 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Dystonia, Hypospadias, Unsteady gait, Flexion contracture, Methylmalonic aciduria, Choreoathetosi... |
ORPHA:17 |
Leukoencephalopathy, Progressive, Infantile-Onset, With Or Without Deafness |
|
Renal insufficiency, Akinesia, Spastic tetraplegia, Hypertonia, Mild proteinuria |
OMIM:619147 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Spasticity |
ORPHA:500144 |
Congenital Myopathy 13 |
|
Telecanthus, Kyphoscoliosis, Cryptorchidism, Flexion contracture, Scoliosis, Blepharophimosis, Do... |
OMIM:255995 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Benign Samaritan Congenital Myopathy |
|
Epicanthus, Fasciculations |
ORPHA:324581 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Contractures of the large joints, Hypertonia, Myoclonus, Vesicoureteral reflux, Spasticity |
ORPHA:3078 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Telecanthus, Broad-based gait, Inability to walk, Myoclonus, Long palpebral fissure |
OMIM:616158 |
Marshall-Smith Syndrome |
|
Omphalocele, Thoracic scoliosis, Highly arched eyebrow, Kyphoscoliosis, Bilateral cryptorchidism,... |
OMIM:602535 |
Pediatric Systemic Lupus Erythematosus |
|
Dark urine, Renal insufficiency, Proteinuria, Hematuria, Nephrotic syndrome, Abnormality of the u... |
ORPHA:93552 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Agel Amyloidosis |
|
Proteinuria, Ataxia, Bilateral ptosis, Stage 5 chronic kidney disease, Keratoconjunctivitis sicca... |
ORPHA:85448 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Inguinal hernia, Thoracolumbar scoliosis, Kyphoscoliosis, Atrophic scars, Thick eyebrow, Ptosis |
ORPHA:230851 |
Optic Atrophy 11 |
|
Ataxia, Gait apraxia, Dysmetria, Athetosis, Hyperkinetic movements |
OMIM:617302 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Spondyloenchondrodysplasia |
|
Proteinuria, Kyphosis, Chorea, Chronic kidney disease, Hematuria, Platyspondyly, Spasticity |
ORPHA:1855 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Epicanthus, Contracture of the proximal interphalangeal joint of the 2nd finger, Hypospadias, Ata... |
OMIM:300998 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Limb joint contracture, Lagophthalmos, Bilateral ptosis, Chorea, Inability to walk, Achilles tend... |
ORPHA:404454 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Cockayne Syndrome |
|
Urinary incontinence, Progressive gait ataxia, Hypertonia, Congenital contracture, Intention trem... |
ORPHA:191 |
Huriez Syndrome |
|
Squamous cell carcinoma of the skin |
OMIM:181600 |
Mucopolysaccharidosis, Type Vi |
|
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging o... |
OMIM:253200 |
Full Schwannomatosis |
|
Hypoesthesia, Paresthesia, Fasciculations, Scoliosis, Lipoma |
ORPHA:93921 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Back pain, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Vocal cord paraly... |
ORPHA:98863 |
Renal Agenesis |
|
Renal insufficiency, Renal agenesis, Proteinuria, Unilateral renal agenesis, Ureteral agenesis, A... |
ORPHA:411709 |
Microcephaly-Capillary Malformation Syndrome |
|
Vesicoureteral reflux, Myoclonus, Spastic tetraparesis, Ptosis |
OMIM:614261 |
Childhood Absence Epilepsy |
|
Limb myoclonus, Abnormal social behavior, EEG with spike-wave complexes (2.5-3.5 Hz) |
ORPHA:64280 |
Pontocerebellar Hypoplasia, Type 2E |
|
Epicanthus, Flexion contracture, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Scolio... |
OMIM:615851 |
Primary Fanconi Renotubular Syndrome |
|
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... |
ORPHA:3337 |
Loeys-Dietz Syndrome 5 |
|
Reduced subcutaneous adipose tissue, Inguinal hernia, Kyphoscoliosis, Hiatus hernia, Cervical spi... |
OMIM:615582 |
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7 |
|
Premature graying of hair, Squamous cell carcinoma of the skin, Myelodysplasia |
OMIM:620365 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Paroxysmal Cold Hemoglobinuria |
|
Abnormal urinary color, Hemoglobinuria |
ORPHA:90035 |
Amyotrophic Lateral Sclerosis 18 |
|
Spasticity, Fasciculations |
OMIM:614808 |
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome |
|
Epicanthus, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short... |
ORPHA:457395 |
Holoprosencephaly |
|
Omphalocele, Epicanthus, Hypoplasia of penis, Proteinuria, Highly arched eyebrow, Short neck, Con... |
ORPHA:2162 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Limb joint contracture, Spastic tetraparesis, Short neck, Ankle flexion contracture, Knee flexion... |
ORPHA:284417 |
Malignant Hyperthermia, Susceptibility To, 1 |
|
Rigidity, Myoglobinuria |
OMIM:145600 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Xanthine nephrolithiasis, Increased urinary sulfite level, Xanthinuria, Spastic tetraplegia, Opis... |
OMIM:252160 |
Pseudoleprechaunism Syndrome, Patterson Type |
|
Bladder diverticulum, Abnormal odontoid process morphology, Kyphoscoliosis |
ORPHA:2976 |
Xeroderma Pigmentosum, Complementation Group B |
|
Pigmentary retinopathy, Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cuta... |
OMIM:610651 |
Autoimmune Hypoparathyroidism |
|
Calcium nephrolithiasis, Conjunctivitis, Paresthesia, Myoclonic spasms, Laryngeal dystonia |
ORPHA:36913 |
Rheumatic Fever |
|
Chorea, Nephrotic syndrome, Gait disturbance, Hemiballismus, Fasciculations |
ORPHA:3099 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Membranoproliferative glomerulonephritis, Ataxia, Myoclonus, Scolios... |
OMIM:615816 |
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development |
|
Kyphoscoliosis |
OMIM:618339 |
Female Restricted Epilepsy With Intellectual Disability |
|
Abnormal social behavior |
ORPHA:101039 |
Amyotrophic Lateral Sclerosis 8 |
|
Loss of ambulation, Abnormal pyramidal sign, Fasciculations, Postural tremor |
OMIM:608627 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Primary amenorrhea, Progressive cerebellar ataxia... |
ORPHA:502423 |
Fanconi-Bickel Syndrome |
|
Reduced subcutaneous adipose tissue, Hyperphosphaturia, Ketonuria, Proteinuria, Hypercalciuria, G... |
OMIM:227810 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Myoclonus |
OMIM:619057 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Anuria, Proteinuria, Glomerulonephritis, Chronic kidney disease, Oliguria, Acute tubul... |
ORPHA:340 |
Amyotrophic Lateral Sclerosis 1 |
|
Pseudobulbar paralysis, Fasciculations, Spasticity |
OMIM:105400 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Proteinuria, Polyuria, Renal salt wasting, Chronic kidney disease, Hyperechogenic kidneys |
OMIM:613845 |
D-Glyceric Aciduria |
|
Spastic tetraplegia, Spasticity, Opisthotonus, Aminoaciduria, Myoclonus, Micropenis |
OMIM:220120 |
Wild Type Attr Amyloidosis |
|
Nephropathy, Renal insufficiency, Nephrotic syndrome, Proteinuria |
ORPHA:330001 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis |
OMIM:300337 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis |
ORPHA:1545 |
You-Hoover-Fong Syndrome |
|
Spasticity, Ataxia, Kyphoscoliosis |
OMIM:616954 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Ketonuria, Ataxia, Lacticaciduria, Myoclonus, Dystonia |
OMIM:619167 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Blephar... |
OMIM:608643 |
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations |
|
Hematuria, Hemiparesis, Proteinuria, Apraxia |
OMIM:192315 |
Pheochromocytoma--Islet Cell Tumor Syndrome |
|
Proteinuria, Elevated urinary norepinephrine level |
OMIM:171420 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Loss of ambulation, Exercise-induced myoglobinuria |
ORPHA:352479 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Brain-Lung-Thyroid Syndrome |
|
Incoordination, Hypospadias, Ataxia, Involuntary movements, Dystonia, Chorea, Megacystis, Clumsin... |
ORPHA:209905 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Steppage gait, Fasciculations, Frequ... |
ORPHA:521411 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Tip-toe gait, Gait disturbanc... |
ORPHA:98855 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Urinary incontinence, Tremor, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Sl... |
ORPHA:476126 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paroxysmal nocturnal hemoglobinuria, Paralysis |
OMIM:612300 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Orofaciodigital Syndrome Type 3 |
|
Stage 5 chronic kidney disease, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity |
ORPHA:2752 |
Paroxysmal Nocturnal Hemoglobinuria 2 |
|
Paroxysmal nocturnal hemoglobinuria |
OMIM:615399 |
Myopathy With Lactic Acidosis, Hereditary |
|
Bilateral ptosis, Myoglobinuria, Frequent falls, Difficulty walking |
OMIM:255125 |
Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Waddling gait, Back pain, Hyperlordosis, Spinal rigidity, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:98853 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Inguinal hernia, Congenital kyphoscoliosis, Multiple joint contractures, Kyphoscoliosis, Cryptorc... |
ORPHA:536471 |
Chromosome 18Q Deletion Syndrome |
|
Epicanthus, Broad-based gait, Hypospadias, Inguinal hernia, Short neck, Tremor, Cryptorchidism, C... |
OMIM:601808 |
Spermatogenic Failure 38 |
|
Male infertility, Oligozoospermia, Coiled sperm flagella, Reduced sperm motility, Tapered sperm h... |
OMIM:618433 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hemiplegia/hemiparesis, Hematuria, Tubulointers... |
ORPHA:183 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Dementia, Gait disturbance, Decerebrate rigidity, Progressive spa... |
ORPHA:512 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Fasciculations |
OMIM:619141 |
Genetic Recurrent Myoglobinuria |
|
Dark urine, Renal insufficiency, Recurrent myoglobinuria, Exercise-induced myoglobinuria, Oliguri... |
ORPHA:99845 |
Hemimegalencephaly |
|
Hemiparesis, Myoclonus |
ORPHA:99802 |
Acute Intermittent Porphyria |
|
Dark urine, Back pain, Renal insufficiency, Somatic sensory dysfunction, Dysuria, Urinary inconti... |
ORPHA:79276 |
Alport Syndrome-Intellectual Disability-Midface Hypoplasia-Elliptocytosis Syndrome |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Microscopic hematuria, Downslanted palpebral fi... |
ORPHA:86818 |
Williams-Beuren Syndrome |
|
Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Vesicoureteral reflux, Micropenis, P... |
OMIM:194050 |
Cutis Laxa, Autosomal Recessive, Type Iic |
|
Reduced subcutaneous adipose tissue, Entropion, Kyphoscoliosis, Bilateral cryptorchidism, Knee fl... |
OMIM:617402 |
Cockayne Syndrome A |
|
Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Proteinuria, Ataxia, T... |
OMIM:216400 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Flexion contracture of finger, Urinary... |
ORPHA:466768 |
Fatal Familial Insomnia |
|
Urinary retention, Myoclonus, Ataxia |
OMIM:600072 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Spastic paraplegia, Dysmetr... |
ORPHA:171629 |
Brody Disease |
|
Somatic sensory dysfunction, Flexion contracture, Fasciculations |
OMIM:601003 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Epicanthus, Thoracic scoliosis, Hypospadias, Cervical kyphosi... |
OMIM:114290 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Renal dysplasia, Ureteral duplication, Epicanthus, Ureteral hypoplasia, Congenital diaphragmatic ... |
OMIM:614080 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... |
ORPHA:139396 |
Wagro Syndrome |
|
Proteinuria, Nephroblastoma, Downslanted palpebral fissures, Decreased testicular size, Ptosis |
OMIM:612469 |
Donnai-Barrow Syndrome |
|
Omphalocele, Proteinuria, Congenital diaphragmatic hernia, Non-acidotic proximal tubulopathy, Umb... |
OMIM:222448 |
Melnick-Needles Syndrome |
|
Omphalocele, Ureteral stenosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Gait di... |
OMIM:309350 |
Typical Nemaline Myopathy |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Gait disturbance, Scoliosis |
ORPHA:171436 |
Juvenile Nephropathic Cystinosis |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,... |
ORPHA:411634 |
Mcdonough Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2471 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
Niemann-Pick Disease Type C |
|
Progressive neurologic deterioration, Tremor, Chorea, Abnormal pyramidal sign, Progressive gait a... |
ORPHA:646 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Papa Syndrome |
|
Proteinuria |
ORPHA:69126 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Congenital Contractural Arachnodactyly |
|
Congenital kyphoscoliosis, Camptodactyly of finger, Flexion contracture, Congenital contracture, ... |
ORPHA:115 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Difficulty walking, Scoliosis, Limb hy... |
ORPHA:90322 |
Floating-Harbor Syndrome |
|
Speech apraxia, Broad-based gait, Hypospadias, Renal agenesis, Kyphoscoliosis, Short neck, Crypto... |
ORPHA:2044 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Robinow Syndrome |
|
Fused thoracic vertebrae, Multicystic kidney dysplasia, Kyphoscoliosis, Cryptorchidism, Hemiverte... |
ORPHA:97360 |
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion |
|
Epicanthus, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Renal hypoplasia/aplasia, Abnorm... |
ORPHA:363700 |
Orofaciodigital Syndrome Type 1 |
|
Multicystic kidney dysplasia, Epicanthus, Renal insufficiency, Telecanthus, Proteinuria, Ataxia, ... |
ORPHA:2750 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Cryptorchidism, Upslanted palpebral fis... |
OMIM:300967 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Oligosacchariduria, Nephrocalcinosis, Aminoaciduria, Glomerulopathy, Abnormal dental enam... |
ORPHA:534 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity |
OMIM:618201 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Sialuria |
|
Neuropathic spinal arthropathy, Epicanthus, Hyperkinetic movements |
ORPHA:3166 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Kyphoscoliosis, Abnormality of the vertebral column, Platyspondyly, Scoliosis |
ORPHA:93316 |
Cystinosis, Nephropathic |
|
Male infertility, Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Stage 5 chronic ... |
OMIM:219800 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Renal hypoplasia, Upslanted ... |
OMIM:309580 |
Wieacker-Wolff Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Apraxia, Oculomotor apraxia, Spasticity |
OMIM:314580 |
Spermatogenic Failure 2 |
|
Male infertility, Non-obstructive azoospermia, Azoospermia, Oligozoospermia |
OMIM:108420 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Osteogenesis Imperfecta, Type Xx |
|
Vertebral compression fracture, Kyphoscoliosis, Highly arched eyebrow, Sparse lateral eyebrow |
OMIM:618644 |
Behavioral Variant Of Frontotemporal Dementia |
|
Upper motor neuron dysfunction, Gait disturbance, Fasciculations, Abnormality of extrapyramidal m... |
ORPHA:275864 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Paresthesia, Myoclonus, Abnormality of extrapyra... |
ORPHA:79279 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
OMIM:231530 |
Larsen-Like Syndrome |
|
Kyphoscoliosis |
OMIM:608545 |
Rothmund-Thomson Syndrome, Type 2 |
|
Absent eyebrow, Epicanthus, Sparse eyelashes, Kyphoscoliosis, Absent eyelashes, Sparse eyebrow, C... |
OMIM:268400 |
Restrictive Dermopathy 1 |
|
Ureteral duplication, Entropion, Sparse eyelashes, Hypospadias, Kyphoscoliosis, Limb joint contra... |
OMIM:275210 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Short attention span, Broad-based gait, Ataxia, Tremor, Myoclonus, Gait imbalance |
ORPHA:98794 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Srd5A3-Cdg |
|
Kyphosis, Abnormal sacrum morphology, Ataxia |
ORPHA:324737 |
Lymphatic Filariasis |
|
Proteinuria, Glomerulonephritis, Abnormality of the kidney, Orchitis, Vaginal hydrocele, Hematuri... |
ORPHA:2035 |
Spermatogenic Failure 15 |
|
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest |
OMIM:616950 |
Lysinuric Protein Intolerance |
|
Proteinuria, Glomerulonephritis, Ornithinuria, Argininuria, Tubulointerstitial nephritis, Renal f... |
ORPHA:470 |
Malakoplakia |
|
Proteinuria, Dysuria, Abnormality of the menstrual cycle, Orchitis, Urinary bladder inflammation,... |
ORPHA:556 |
Spermatogenic Failure, X-Linked, 2 |
|
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest |
OMIM:309120 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
OMIM:615084 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Urinary incontinence, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, A... |
ORPHA:306674 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Kyphosis, Scoliosis |
OMIM:619797 |
Proximal Renal Tubular Acidosis |
|
Hyperphosphaturia, Bicarbonaturia, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, H... |
ORPHA:47159 |
Turcot Syndrome With Polyposis |
|
Glioblastoma multiforme, Astrocytoma, Brain neoplasm, Soft tissue neoplasm, Glioma, Pilomatrixoma... |
ORPHA:99818 |
9P13 Microdeletion Syndrome |
|
Epicanthus, Highly arched eyebrow, Hand tremor, Myoclonus, Scoliosis, Umbilical hernia, Thick eye... |
ORPHA:324313 |
Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoliosis, Ankle flexion contr... |
OMIM:259600 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus |
ORPHA:324708 |
Scorpion Envenomation |
|
Hemifacial spasm, Ketonuria, Ataxia, Tremor, Hyperkinetic movements, Paresthesia, Myoclonus, Glyc... |
ORPHA:466677 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Kyphoscoliosis, Cervical spine instability, Atrophic scars, Platyspondyly, Joint contracture |
OMIM:615349 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Spermatogenic Failure, X-Linked, 7 |
|
Male infertility, Multiflagellar spermatozoa, Globozoospermia, Excess residual spermatozoal cytop... |
OMIM:301106 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Recurrent urinary tract infections, Ataxia, Tremor, Inability to walk, Upp... |
OMIM:619229 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Inguinal hernia, Hypospadias, Ataxia, Tremor, Cryptorchidism, 3-Methylglutaconic aciduria, Umbili... |
OMIM:614052 |
Xeroderma Pigmentosum, Complementation Group E |
|
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin |
OMIM:278740 |
Majeed Syndrome |
|
Glomerulopathy, Microscopic hematuria, Proteinuria, Flexion contracture |
ORPHA:77297 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Red-brown urine, Stage 5 chronic kidney disease, Renal tubular epithelial necrosis, Tubulointerst... |
ORPHA:157 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii |
|
Hip contracture, Hypospadias, Kyphoscoliosis, Knee flexion contracture, Minimal subcutaneous fat,... |
OMIM:210730 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Progressive neurologic deterioration, Tremor, Unsteady gait, Abnormal pyr... |
OMIM:614947 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Inability to walk, Kyphosis, Unsteady gait, Scoli... |
OMIM:618443 |
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities |
|
Thoracolumbar kyphosis, Cervical instability, Platyspondyly, Kyphoscoliosis |
OMIM:617425 |
Joubert Syndrome |
|
Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebral bodies, Gait disturbance, S... |
ORPHA:475 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Almond-shaped palpebral fissure, Opisthot... |
OMIM:620352 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Inability to walk, Kyphosis, Scoliosis, Oculomotor apraxia, Spasticity |
OMIM:301041 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyperkinetic movements, U... |
OMIM:617799 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Ataxia, Female hypogonadism, Tremor, Inability to walk, Slurred spee... |
OMIM:208900 |
Floating-Harbor Syndrome |
|
Inguinal hernia, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Glandular hypospadias, ... |
OMIM:136140 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Difficu... |
OMIM:618476 |
Posttransplant Acute Limbic Encephalitis |
|
Ataxia, Myoclonus, Dystonia |
ORPHA:163921 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Fasciculations |
OMIM:616437 |
Noonan Syndrome 1 |
|
Male infertility, Epicanthus, Hypospadias, Kyphoscoliosis, Short neck, Cryptorchidism, Hypogonadi... |
OMIM:163950 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Pseudohypoparathyroidism Type 2 |
|
Laryngeal dystonia, Myoclonic spasms, Paresthesia, Low urinary cyclic AMP response to PTH adminis... |
ORPHA:94090 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Kyphosis, Hyperlordosis |
ORPHA:3085 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Myoglobinuria, Acute kidney injury |
ORPHA:57 |
Lathosterolosis |
|
Abnormal thoracic spine morphology, Epicanthus, Hypoplasia of penis, Horseshoe kidney, Myoclonus,... |
ORPHA:46059 |
Pseudo-Torch Syndrome 3 |
|
Acute kidney injury, Proteinuria |
OMIM:618886 |
Glycogen Storage Disease Ixd |
|
Exercise-induced myoglobinuria |
OMIM:300559 |
Glycogen Storage Disease Due To Lactate Dehydrogenase M-Subunit Deficiency |
|
Chronic kidney disease, Acute kidney injury, Exercise-induced myoglobinuria |
ORPHA:284426 |
3Q27.3 Microdeletion Syndrome |
|
Downslanted palpebral fissures, Kyphoscoliosis |
ORPHA:397695 |
Microcephaly, Amish Type |
|
Flexion contracture, Myoclonus, Limb hypertonia |
OMIM:607196 |
Aymé-Gripp Syndrome |
|
Inguinal hernia, Proteinuria, Congenital diaphragmatic hernia, Bilateral ptosis, Cryptorchidism, ... |
ORPHA:1272 |
Juvenile Absence Epilepsy |
|
Myoclonus |
ORPHA:1941 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Mercury Poisoning |
|
Tremor, Confusion, Dystonia |
ORPHA:330021 |
Cocaine Intoxication |
|
Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Hematuria, Tubulointerstitial nep... |
ORPHA:90068 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Camptodactyly of finger, Highly arched eyebrow, Short neck, ... |
OMIM:143095 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Hypertonia, Gait disturbanc... |
ORPHA:682 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Chorea, Cerebral palsy, Myoclonus, Scoliosis |
OMIM:617600 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Systemic Lupus Erythematosus |
|
Proteinuria, Lupus nephritis, Pyuria, Chorea, Hematuria |
ORPHA:536 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Slurred speech, Renal tubular epithelial necrosis, Renal tubular dys... |
ORPHA:31826 |
Immunoglobulin A Vasculitis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Orchitis, Hemiplegia/hemiparesis, Hematuria |
ORPHA:761 |
Spermatogenic Failure 77 |
|
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia |
OMIM:620103 |
Cockayne Syndrome B |
|
Reduced subcutaneous adipose tissue, Renal insufficiency, Proteinuria, Ataxia, Tremor, Kyphosis, ... |
OMIM:133540 |
Myopathy, Myofibrillar, 2 |
|
Fasciculations |
OMIM:608810 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Speech apraxia, Epicanthus, Ataxia, Kyphoscoliosis, Bilateral cryptorchidism, Cryptorchidism, Ups... |
ORPHA:466791 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Renal insufficiency, Dicarboxylic aciduria, Red-brown urine, Renal tubular epithelial necrosis, T... |
ORPHA:228308 |
Multifocal Motor Neuropathy |
|
Fasciculations |
ORPHA:641 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Chorioretinal scar, Renal neutrophilic tubulitis, Sterile pyuria, Renal tubular epithelial necros... |
ORPHA:91500 |
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland |
|
Male infertility, Hypercalciuria |
ORPHA:2239 |
Gaucher Disease Type 1 |
|
Hematuria, Kyphosis, Vertebral compression fracture, Proteinuria |
ORPHA:77259 |
Gm1 Gangliosidosis |
|
Ataxia, Hyperlordosis, Tremor, Kyphosis, Unsteady gait, Abnormal form of the vertebral bodies, Pl... |
ORPHA:354 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Clonus, Spastic tetraplegia, Aminoaciduria, Myoclonus, Scoliosis |
OMIM:619055 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Emotional lability, Irritability, Ataxia |
OMIM:201100 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Alg1-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79327 |
Neuroleptic Malignant Syndrome |
|
Extrapyramidal muscular rigidity, Proteinuria, Urinary incontinence, Oculogyric crisis, Tremor, C... |
ORPHA:94093 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Basilar Impression, Primary |
|
Kyphoscoliosis, Horner syndrome, Short neck |
OMIM:109500 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Diffuse Alveolar Hemorrhage |
|
Hematuria, Proteinuria |
ORPHA:90060 |
Pediatric-Onset Graves Disease |
|
Tremor, Hyperkinetic movements, Abnormal eyelid morphology |
ORPHA:525731 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... |
OMIM:253010 |
Kinsship Syndrome |
|
Sacral dimple, Spastic tetraparesis, Short neck, Synophrys, Renal hypoplasia, Horseshoe kidney, M... |
OMIM:619297 |
Congenital Sialidosis Type 2 |
|
Inguinal hernia, Ataxia, Abnormality of the kidney, Dysmetria, Myoclonus, Umbilical hernia, Spast... |
ORPHA:93400 |
Non-Progressive Cerebellar Ataxia With Intellectual Disability |
|
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ... |
ORPHA:314647 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of skin pigmentation, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the ... |
OMIM:620040 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Progressive neurologic deterioration, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abno... |
ORPHA:2131 |
Schaaf-Yang Syndrome |
|
Inability to walk, Kyphosis, Scoliosis |
OMIM:615547 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Impaired distal vibration... |
OMIM:607459 |
Angelman Syndrome |
|
Broad-based gait, Ataxia, Tremor, Inability to walk, Myoclonus, Scoliosis, Delayed menarche, Ptosis |
ORPHA:72 |
Xeroderma Pigmentosum, Complementation Group A |
|
Melanoma, Squamous cell carcinoma of the skin, Hypermelanotic macule |
OMIM:278700 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Paralysis, Tremor, Depression, Dimin... |
ORPHA:297 |
Spondyloepimetaphyseal Dysplasia, Sponastrime Type |
|
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... |
OMIM:271510 |
Basal Cell Nevus Syndrome 1 |
|
Vertebral fusion, Kyphoscoliosis, Orbital cyst, Hemivertebrae, Vertebral wedging, Scoliosis |
OMIM:109400 |
Williams Syndrome |
|
Hypoplasia of penis, Tremor, Abnormal form of the vertebral bodies, Abnormal tubulointerstitial m... |
ORPHA:904 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Spinal rigidity |
ORPHA:352447 |
Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Epicanthus, Lumbar hyperlordosis, Unilateral renal agenesis, Kyphoscoliosis, Sparse eyebrow, Bila... |
ORPHA:500150 |
Pheochromocytoma |
|
Proteinuria, Renal artery stenosis, Elevated urinary norepinephrine level |
OMIM:171300 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypertonia, Myoclonus |
ORPHA:79096 |
Lowe Oculocerebrorenal Syndrome |
|
Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Kyphosis, Cryptorchidism, Bicarb... |
OMIM:309000 |
47,Xyy Syndrome |
|
Male infertility, Hypospadias, Cryptorchidism, Oligozoospermia, Azoospermia, Macroorchidism, Micr... |
ORPHA:8 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Hypertonia, Myoclonus |
ORPHA:289266 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Wrinkly Skin Syndrome |
|
Epicanthus, Inguinal hernia, Lipodystrophy, Kyphoscoliosis, Cryptorchidism, Slurred speech, Progr... |
ORPHA:2834 |
Incontinentia Pigmenti |
|
Spasticity, Hemivertebrae, Scarring, Kyphoscoliosis |
OMIM:308300 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Multiple joint contractures, Lipoatrophy, Tremor, Hem... |
ORPHA:51 |
Peho Syndrome |
|
Epicanthus, Myoclonus |
OMIM:260565 |
Kagami-Ogata Syndrome |
|
Omphalocele, Inguinal hernia, Kyphoscoliosis, Short neck, Blepharophimosis |
ORPHA:254519 |
Spermatogenic Failure 75 |
|
Male infertility, Non-obstructive azoospermia |
OMIM:619949 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Prominent coccyx, Camptodacty... |
OMIM:249420 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Ankle flexion contracture, Flexion contracture, Elbow flexion contracture, Hamstring contractures... |
ORPHA:206549 |
Hyperekplexia 1 |
|
Inguinal hernia, Exaggerated startle response, Hypertonia, Myoclonus, Umbilical hernia, Frequent ... |
OMIM:149400 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b... |
OMIM:230500 |
Spermatogenic Failure 6 |
|
Male infertility, Decreased acrosin in sperm head, Globozoospermia |
OMIM:102530 |
Adenylosuccinase Deficiency |
|
Inability to walk, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity |
OMIM:103050 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Melanoma, Numerous pigmented freckles, Squamous cell carcinoma of the skin, Basal cell carcinoma |
ORPHA:220295 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Spasticity, Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:614299 |
Alexander Disease |
|
Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Tet... |
ORPHA:58 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Proteinuria, Irregular menstruation, Stage 5 chronic kidney disease, Nephrolithiasis, Nephrocalci... |
ORPHA:79259 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Gait ataxia, Positive Romberg sign,... |
ORPHA:70595 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Myoclonus, Opisthotonus |
OMIM:619814 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Myoglobinuria |
ORPHA:79240 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Pontocerebellar Hypoplasia Type 7 |
|
Epicanthus, Involuntary movements, Cryptorchidism, Spasticity, Upslanted palpebral fissure, Hyper... |
ORPHA:284339 |
Autosomal Dominant Hypocalcemia |
|
Writer's cramp, Hypercalciuria, Nephrocalcinosis, Paresthesia, Hypermagnesiuria, Cortical myoclonus |
ORPHA:428 |
Mitochondrial Trifunctional Protein Deficiency 2 |
|
Myoglobinuria, Recurrent myoglobinuria |
OMIM:620300 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus |
ORPHA:168491 |
Sandifer Syndrome |
|
Torticollis, Abnormal posturing |
ORPHA:71272 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition |
|
Pilomatrixoma, Embryonal rhabdomyosarcoma, Multiple enchondromatosis, Adenocarcinoma of the colon... |
OMIM:620189 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Fanconi Anemia, Complementation Group A |
|
Duplicated collecting system, Male infertility, Renal agenesis, Hypergonadotropic hypogonadism, E... |
OMIM:227650 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Kyphosis, Torticollis, Scoliosis, Spinal rigidity |
OMIM:254090 |
Glycogen Storage Disease Vii |
|
Hematuria, Exercise-induced myoglobinuria |
OMIM:232800 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614618 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... |
ORPHA:349 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Myoglobinuria |
OMIM:620138 |
Paroxysmal Nocturnal Hemoglobinuria |
|
Hemosiderinuria, Renal insufficiency, Proteinuria, Conjunctival icterus, Chronic kidney disease, ... |
ORPHA:447 |
Otopalatodigital Syndrome, Type Ii |
|
Omphalocele, Hypospadias, Elbow contracture, Kyphoscoliosis, Short neck, Cryptorchidism, Platyspo... |
OMIM:304120 |
Pmm2-Cdg |
|
Epicanthus, Multiple joint contractures, Proteinuria, Ataxia, Kyphoscoliosis, Abnormality of coor... |
ORPHA:79318 |
Kniest Dysplasia |
|
Hip contracture, Inguinal hernia, Short neck, Coronal cleft vertebrae, Platyspondyly, Lumbar kyph... |
OMIM:156550 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Poor coordination, Scoliosis, Short neck |
ORPHA:420794 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Hiatus hernia |
OMIM:614619 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls |
OMIM:620351 |
Hermansky-Pudlak Syndrome |
|
Hypopigmentation of hair, Partial albinism, Ocular albinism, Melanocytic nevus, Basal cell carcin... |
ORPHA:79430 |
Methylmalonic Aciduria, Cbla Type |
|
Ketonuria, Elevated urine 3-hydroxypropionic acid level, Tremor, Methylmalonic aciduria, Elevated... |
OMIM:251100 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Hellp Syndrome |
|
Back pain, Hemoglobinuria, Acute kidney injury, Proteinuria |
ORPHA:244242 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:79107 |
Granulomatosis With Polyangiitis |
|
Glomerulopathy, Renal insufficiency, Ureteral stenosis, Proteinuria, Hematuria, Hemiplegia, Prost... |
ORPHA:900 |
Early Infantile Epileptic Encephalopathy |
|
Tremor, Spasticity, Choreoathetosis, Myoclonus, Ureterocele, Dystonia, Episodic ataxia, Umbilical... |
ORPHA:1934 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Dysmenorrhea, Irregular menstruation, Renal tubular acidosis, Oligomenorrhea, Myoglobinuria |
ORPHA:264580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Myoclonus |
OMIM:619060 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Renal tubular dysfunction, Hypertonia, Glycosuria, Spasticity |
OMIM:616539 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia |
OMIM:616672 |
Poliomyelitis |
|
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations |
ORPHA:2912 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Dystonia, ... |
OMIM:612199 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Elbow flexion contracture, Opi... |
ORPHA:79139 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Kyphosis, Sacral dimple, Spina bifida occulta, Scoliosis |
OMIM:618291 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Flexion contracture, Paraplegia, Irregular ve... |
OMIM:271640 |
Spermatogenic Failure 9 |
|
Male infertility, Globozoospermia |
OMIM:613958 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Myoglobinuria, Red-brown urine |
ORPHA:228305 |
Infantile Nephropathic Cystinosis |
|
Hyperphosphaturia, Abnormal tubulointerstitial morphology, Renal tubular dysfunction, Aminoacidur... |
ORPHA:411629 |
Spermatogenic Failure 67 |
|
Male infertility, Globozoospermia |
OMIM:619803 |
Spermatogenic Failure 68 |
|
Male infertility, Globozoospermia |
OMIM:619805 |
Spermatogenic Failure 69 |
|
Male infertility, Globozoospermia |
OMIM:619826 |
Spermatogenic Failure 66 |
|
Male infertility, Globozoospermia |
OMIM:619799 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Proteinuria, Chronic kidney disease, Stage 5 chronic kidney disease, Hematuria, Nephropathy |
ORPHA:1018 |
Osteogenesis Imperfecta, Type Xvii |
|
Vertebral compression fracture, Dentinogenesis imperfecta, Platyspondyly, Kyphoscoliosis |
OMIM:616507 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Speech apraxia, Ptosis, Telecanthus, Myoclonus, Downslanted palpebral fissures, Sparse lateral ey... |
ORPHA:314655 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Facial-lingual fasciculations, Spastic tetraplegia, Long eyelashes,... |
OMIM:617281 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Aciduria, Paralysis, Hypertonia, 3-Methylglutaconic aciduria, Ethylmalonic aciduria, Scol... |
OMIM:203700 |
Pgm3-Cdg |
|
Membranoproliferative glomerulonephritis, Ataxia, Narrow palpebral fissure, Myoclonus, Cortical m... |
ORPHA:443811 |
Rett Syndrome, Congenital Variant |
|
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Aminoaciduria, Myoclonus |
OMIM:614946 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Renal insufficiency, Proteinuria, Chronic kidney disease, Renal cyst, Nephritis |
OMIM:208500 |
African Trypanosomiasis |
|
Renal insufficiency, Abnormal central motor function, Somatic sensory dysfunction, Urinary incont... |
ORPHA:3385 |
Sponastrime Dysplasia |
|
Epicanthus, Lumbar hyperlordosis, Hypospadias, Kyphoscoliosis, Hyperconvex vertebral body endplat... |
ORPHA:93357 |
Amyotrophy, Monomelic |
|
Fasciculations |
OMIM:602440 |
Gaucher Disease Type 3 |
|
Hematuria, Gait disturbance, Proteinuria, Ataxia |
ORPHA:77261 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... |
OMIM:300966 |
Congenital Bilateral Absence Of Vas Deferens |
|
Male infertility, Abnormal renal morphology, Obstructive azoospermia, Oligozoospermia |
ORPHA:48 |
Spermatogenic Failure 28 |
|
Male infertility, Non-obstructive azoospermia, Decreased testicular size |
OMIM:618086 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Rigidity, Myoclonus |
OMIM:300673 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis |
OMIM:184253 |
Microphthalmia, Syndromic 1 |
|
Lumbar hyperlordosis, Hydroureter, Hypospadias, Kyphoscoliosis, Renal hypoplasia/aplasia, Cryptor... |
OMIM:309800 |
Ciliary Dyskinesia, Primary, 45 |
|
Male infertility |
OMIM:618801 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Congenital Disorder Of Glycosylation, Type Il |
|
Kyphosis, Short neck |
OMIM:608776 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck |
ORPHA:3409 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Omphalocele, Epicanthus, Interphalangeal joint contracture of finger, Kyphoscoliosis, Short neck,... |
ORPHA:96334 |
Choreoacanthocytosis |
|
Impaired vibratory sensation, Resting tremor, Self-mutilation of tongue and lips due to involunta... |
ORPHA:2388 |
Pearson Syndrome |
|
Renal insufficiency, Proteinuria, Ataxia, Lacticaciduria, Renal cyst, Glycosuria, Ptosis |
ORPHA:699 |
Acquired Generalized Lipodystrophy |
|
Panniculitis, Proteinuria, Generalized lipodystrophy |
ORPHA:79086 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Ataxia, Postural tremor, Limb joint contracture, Babinski sign, Flexion contracture, Lower limb h... |
OMIM:301072 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Male infertility, Hypospadias, Bilateral cryptorchidism, Irregular menstruation, Decreased fertil... |
ORPHA:90793 |
Familial Mediterranean Fever |
|
Proteinuria, Orchitis, Nephrocalcinosis, Nephrotic syndrome, Nephropathy |
ORPHA:342 |
Pierson Syndrome |
|
Diffuse mesangial sclerosis, Proteinuria, Stage 5 chronic kidney disease, Nephrotic syndrome, Hyp... |
OMIM:609049 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Congenital Fiber-Type Disproportion Myopathy |
|
Hip contracture, Kyphoscoliosis, Hyperlordosis, Ankle flexion contracture, Flexion contracture, E... |
ORPHA:2020 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia |
OMIM:618321 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia |
OMIM:169400 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ketonuria, Ataxia, Spastic hemiparesis, 3-Methylglutaric aciduria, Myoclonus, Spasticity |
ORPHA:20 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
45,X/46,Xy Mixed Gonadal Dysgenesis |
|
Male infertility, Epicanthus, Streak ovary, Hypospadias, Abnormality of the kidney, Unilateral cr... |
ORPHA:1772 |
Bardet-Biedl Syndrome 20 |
|
Bilateral cryptorchidism, Male hypogonadism, Micropenis, Proteinuria |
OMIM:619471 |
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome |
|
Proteinuria, Hiatus hernia, Cryptorchidism, Unsteady gait, Scoliosis, Loss of ambulation |
OMIM:616682 |
Unilateral Polymicrogyria |
|
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... |
ORPHA:268943 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
Glycogen Storage Disease Xii |
|
Hemoglobinuria, Epicanthus, Short neck, Ptosis |
OMIM:611881 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Partial Androgen Insensitivity Syndrome |
|
Male infertility, Hypospadias, Bilateral cryptorchidism, Primary amenorrhea, Perineal hypospadias... |
ORPHA:90797 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Kyphosis, Pain insensitivity, Scoliosis |
OMIM:617061 |
Developmental And Epileptic Encephalopathy 100 |
|
Synophrys, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetos... |
OMIM:619777 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature graying of hair, Squamous cell carcinoma of the skin, Myelodysplasia, Reticular hyperpi... |
OMIM:127550 |
Fabry Disease |
|
Conjunctival telangiectasia, Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Nephrot... |
ORPHA:324 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Intellectual Developmental Disorder, Autosomal Recessive 78 |
|
Kyphoscoliosis |
OMIM:620237 |
Marfan Syndrome |
|
Reduced subcutaneous adipose tissue, Kyphoscoliosis, Incisional hernia, Flexion contracture, Scol... |
OMIM:154700 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Dicarboxylic aciduria, Exercise-induced myoglobinuria |
OMIM:201475 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Scoliosis |
OMIM:617143 |
Trisomy 20P |
|
Incoordination, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Vertebral segmentati... |
ORPHA:261318 |
Infantile Krabbe Disease |
|
Lower limb spasticity, Spastic diplegia, Opisthotonus, Ankle clonus, Myoclonus, Decerebrate rigid... |
ORPHA:206436 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Inability to walk, Hypoplasi... |
ORPHA:508533 |
Ciliary Dyskinesia, Primary, 34 |
|
Male infertility, Immotile sperm |
OMIM:617091 |
Listeriosis |
|
Back pain, Somatic sensory dysfunction, Ataxia, Tremor, Pyelonephritis, Hemiparesis, Conjunctivit... |
ORPHA:533 |
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Lower limb spasticity, Multiple joint contractures, Urinary incontinence, Clonus, Synophrys, Hype... |
ORPHA:447997 |
Orofaciodigital Syndrome I |
|
Epicanthus, Telecanthus, Proteinuria, Polycystic kidney dysplasia, Enamel hypoplasia, Downslanted... |
OMIM:311200 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Unsteady gait, Kyphosis, Scoliosis |
OMIM:618493 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Grade II vesicoureteral reflux |
OMIM:619377 |
Gaucher Disease |
|
Proteinuria, Ataxia, Tremor, Hemiplegia/hemiparesis, Hematuria, Abnormality of extrapyramidal mot... |
ORPHA:355 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Conjunctival icterus, Hemoglobinuria |
OMIM:194380 |
Branchioskeletogenital Syndrome |
|
Abnormality of the cervical spine, Telecanthus, Ureteral stenosis, Abnormality of the vertebral s... |
ORPHA:1299 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Torticollis, White eyelashes, White eyebrow, Ataxia, Cryptorchidism, Spastic tetraplegia, Distal ... |
OMIM:609136 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Pallister-Killian Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Flexion contracture, Renal cyst, Hypertonia, Camptod... |
OMIM:601803 |
Cog8-Cdg |
|
Ataxia, Myoclonus |
ORPHA:95428 |
46,Xy Partial Gonadal Dysgenesis |
|
Male infertility, Hypoplasia of penis, Streak ovary, Hypospadias, Nephroblastoma, Hypergonadotrop... |
ORPHA:251510 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Telecanthus, Lacrimal duct stenosis, Sparse eyebrow, Tremor, Cryptorchidism, Dista... |
ORPHA:506358 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
|
Neurogenic bladder, Cerebral palsy, Dystonia, Inability to walk, Myoclonus, Limb dystonia, Hemipl... |
OMIM:616973 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Dysmetria, Intention tremor |
OMIM:619708 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Spasticity, Myoclonus |
OMIM:612949 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Broad-based gait, Exaggerated startle response, Uterine prolapse, Involuntary movements, Almond-s... |
ORPHA:438213 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentation, Squamous cel... |
ORPHA:79396 |
Postinfectious Vasculitis |
|
Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Orchitis, Hematuria |
ORPHA:48435 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:94065 |
Emanuel Syndrome |
|
Kyphosis, Torticollis, Sacral dimple, Scoliosis |
OMIM:609029 |
Lmna-Related Cardiocutaneous Progeria Syndrome |
|
Pulmonary carcinoid tumor, Premature graying of hair, Papillary renal cell carcinoma, Basal cell ... |
ORPHA:363618 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus |
OMIM:614462 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
ORPHA:2789 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Inability to walk, Multifocal epileptiform discharges, EEG abnormality, Hypertonia, Abnormal soci... |
ORPHA:1675 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Coffin-Lowry Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Scoliosis, Progres... |
ORPHA:192 |
Trisomy 13 |
|
Kyphosis, Scoliosis |
ORPHA:3378 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Postpoliomyelitis Syndrome |
|
Fasciculations |
ORPHA:2942 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Ciliary Dyskinesia, Primary, 49, Without Situs Inversus |
|
Male infertility, Short sperm flagella, Coiled sperm flagella |
OMIM:620197 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Myoglobinuria |
OMIM:609015 |
Cog1-Cdg |
|
Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Vertebral segmentation defect, Down... |
ORPHA:263508 |
Whipple Disease |
|
Erectile dysfunction, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hyperto... |
OMIM:617527 |
Goodpasture Syndrome |
|
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Glomerular crescent formation,... |
OMIM:233450 |
Imerslund-Gräsbeck Syndrome |
|
Proteinuria |
ORPHA:35858 |
3C Syndrome |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
ORPHA:7 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Spermatogenic Failure 14 |
|
Male infertility, Azoospermia |
OMIM:615842 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:254346 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Spermatogenic Failure, X-Linked, 4 |
|
Male infertility, Azoospermia |
OMIM:301077 |
Relapsing Polychondritis |
|
Glomerulopathy, Renal insufficiency, Proteinuria, Hematuria, Conjunctivitis |
ORPHA:728 |
Harrod Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2115 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis |
ORPHA:763 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response, Myoclonus, Spasticity |
ORPHA:309155 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Myoclonus, Dystonia |
OMIM:620167 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Myoglobinuria, Dicarboxylic aciduria |
ORPHA:71212 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Heterotaxy, Visceral, 9, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:618948 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Spasticity, Scoliosis |
OMIM:616449 |
Micro Syndrome |
|
Kyphosis, Spasticity, Scoliosis |
ORPHA:2510 |
Vici Syndrome |
|
Abnormal posturing, Failure to thrive |
OMIM:242840 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, 3-Methylglutaric aciduria, 3-Methylglutaconic aciduria, Hypertonia, Dystonia |
OMIM:617248 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
|
Upslanted palpebral fissure, Myoclonus, Blepharophimosis |
ORPHA:1352 |
Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Hypospadias, Highly arched eyebrow, Bilateral ptosis, Hydrocele te... |
ORPHA:1449 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Developmental And Epileptic Encephalopathy 2 |
|
Inability to walk, Myoclonus, Scoliosis |
OMIM:300672 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Hemoglobinuria |
OMIM:300908 |
Fg Syndrome Type 1 |
|
Broad-based gait, Abnormal social behavior |
ORPHA:93932 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Progressive spastic quadriplegia, Abnormality o... |
ORPHA:521426 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis |
OMIM:607015 |
Sotos Syndrome |
|
Ureteral duplication, Tremor, Flexion contracture, Vesicoureteral reflux, Abnormal vertebral morp... |
ORPHA:821 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies |
OMIM:130720 |
Farber Disease |
|
Paraparesis, Flexion contracture, Abnormal conjunctiva morphology, Myoclonus, Spasticity |
ORPHA:333 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:261349 |
Infection-Related Hemolytic Uremic Syndrome |
|
Anuria, Oliguria, Hemiparesis, Acute kidney injury, Nephrotic range proteinuria, Decreased urine ... |
ORPHA:544482 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:500055 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Weaver Syndrome |
|
Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity |
OMIM:277590 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Malignant Hyperthermia Of Anesthesia |
|
Myoglobinuria, Acute kidney injury |
ORPHA:423 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Spasticity, Unsteady gait |
OMIM:615512 |
Kawasaki Disease |
|
Proteinuria, Conjunctivitis, Sterile pyuria, Ptosis |
ORPHA:2331 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Insulin-Resistance Syndrome Type B |
|
Proteinuria, Nephritis, Glycosuria |
ORPHA:2298 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis |
OMIM:619951 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Bloom Syndrome |
|
Male infertility, Recurrent urinary tract infections, Premature ovarian insufficiency, Sparse eye... |
ORPHA:125 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Kyphosis, Scoliosis, Difficulty walking, Spasticity |
ORPHA:464738 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
Neurofibroma |
|
Spinal canal stenosis, Kyphoscoliosis |
ORPHA:252183 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
Crimean-Congo Hemorrhagic Fever |
|
Proteinuria, Orchitis, Hematuria, Conjunctivitis, Fasciculations |
ORPHA:99827 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio... |
OMIM:265000 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Biconcave vertebral bodies, C1-C2 sublu... |
OMIM:607014 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Hyperlordosis, Kyphosis, Scoliosis, Gait ataxia |
OMIM:617011 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Abnormally s... |
ORPHA:800 |
Doors Syndrome |
|
Increased urine alpha-ketoglutarate concentration, Epicanthus, Bilateral ptosis, Hemivertebrae, N... |
ORPHA:79500 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis |
OMIM:610443 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2215 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Shiga Toxin-Associated Hemolytic Uremic Syndrome |
|
Hemoglobinuria, Anuria, Acute kidney injury |
ORPHA:90038 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... |
ORPHA:1724 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Tip-toe gait, Scoliosis |
OMIM:618050 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Distal Triplication 15Q |
|
Kyphosis, Scoliosis |
ORPHA:314588 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head ... |
OMIM:619475 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis |
OMIM:203800 |
Prader-Willi Syndrome |
|
Impaired pain sensation, Kyphosis, Poor gross motor coordination, Poor fine motor coordination, S... |
OMIM:176270 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Kyphosis |
OMIM:619244 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617602 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
Mend Syndrome |
|
Abnormal social behavior, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
Complete Androgen Insensitivity Syndrome |
|
Bilateral cryptorchidism, Testicular neoplasm, Primary amenorrhea, Male infertility |
ORPHA:99429 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Short neck |
OMIM:309900 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Scoliosis |
ORPHA:1328 |
2Q31.1 Microdeletion Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis, Short neck |
ORPHA:251014 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis, Impaired temperature sensation |
ORPHA:398069 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, ... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, EEG with focal epileptiform discharges, EEG abnormality, Inappropriate laughter, ... |
ORPHA:363958 |
Nmda Receptor Encephalitis |
|
Involuntary movements, Oculogyric crisis, Rigidity, Chorea, Testicular teratoma, Opisthotonus, Ch... |
ORPHA:217253 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis, Impaired pain sensation |
OMIM:619005 |
Multiple Endocrine Neoplasia, Type Iib |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:162300 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Kyphosis, Abnormal form of the vertebral bodies, Abnormality of the verteb... |
ORPHA:280 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
Prader-Willi Syndrome Due To Translocation |
|
Abnormal social behavior, Impaired social interactions |
ORPHA:177907 |
Cohen Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:193 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture,... |
ORPHA:666 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Scoliosis, Difficulty walking |
OMIM:619482 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of the cervical spine, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:464311 |
Lafora Disease |
|
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity |
ORPHA:501 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1969 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
Opsoclonus-Myoclonus Syndrome |
|
Rigidity, Limb myoclonus, Ataxia, Myoclonus |
ORPHA:1183 |
Vas Deferens, Congenital Bilateral Aplasia Of, X-Linked |
|
Male infertility, Azoospermia |
OMIM:300985 |
Vas Deferens, Congenital Bilateral Aplasia Of |
|
Male infertility, Azoospermia |
OMIM:277180 |
Classic Homocystinuria |
|
Hemiplegia/hemiparesis, Kyphosis, Scoliosis |
ORPHA:394 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Abnormality of the cervical spine, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:464306 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Mgat2-Cdg |
|
Kyphosis, Scoliosis |
ORPHA:79329 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Kyphosis, Hypertonia, Scoliosis, Short neck |
OMIM:619194 |
Heterotaxy, Visceral, 10, Autosomal, With Male Infertility |
|
Male infertility |
OMIM:619607 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Broad-based gait, Sacral dimple, Ataxia, Kyphosis, Hypertonia, Gait disturbance, Scoliosis |
ORPHA:268261 |
Aspartylglucosaminuria |
|
Kyphosis, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral bodies, Spond... |
OMIM:208400 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Short neck |
ORPHA:77301 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Hypertonia, Ataxia, Myoclonus |
OMIM:618426 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Unsteady gait, Scoliosis, Difficulty walking, Intention tremor |
ORPHA:90324 |
Myoclonic Epilepsy Of Lafora |
|
Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Aromatase Deficiency |
|
Male infertility, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Female infertilit... |
ORPHA:91 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies |
ORPHA:955 |
Cystic Fibrosis |
|
Male infertility, Hypercalciuria |
OMIM:219700 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hypertonia |
OMIM:300960 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Scoliosis |
ORPHA:818 |
Cowden Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:201 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2911 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
Mucolipidosis Type Ii |
|
Inability to walk, Kyphosis |
ORPHA:576 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Ramon Syndrome |
|
Kyphosis, Scoliosis |
OMIM:266270 |
Zttk Syndrome |
|
Kyphosis, Spasticity, Hemivertebrae, Scoliosis |
OMIM:617140 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Neurofibromatosis Type 1 |
|
Kyphosis, Ataxia, Paresthesia, Scoliosis |
ORPHA:636 |
Stickler Syndrome |
|
Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, P... |
ORPHA:828 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Myoclonus, Tetraplegia, Dystonia |
OMIM:618278 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Neutral Lipid Storage Myopathy |
|
Fasciculations, Difficulty walking |
ORPHA:98908 |
1P36 Deletion Syndrome |
|
Hemiplegia/hemiparesis, Kyphosis, Spinal canal stenosis, Gait disturbance, Scoliosis |
ORPHA:1606 |
Somatomammotropinoma |
|
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:314769 |
Acromegaly |
|
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:963 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Scoliosis |
ORPHA:2658 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Marfan Syndrome |
|
Kyphosis, Scoliosis, Spondylolisthesis |
ORPHA:558 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta |
OMIM:135900 |
Tuberous Sclerosis Complex |
|
Abnormal social behavior |
ORPHA:805 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
|
Pilomatrixoma, Neoplasm, Spinal cord tumor, Meningioma |
ORPHA:353281 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis |
OMIM:194190 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Kyphosis, Abnormality of the vertebral column, Beaking of verteb... |
ORPHA:97685 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Platyspondyly, Abnormality of the vertebral column, Abnormal vertebral morphology |
ORPHA:2273 |
Tetrasomy 9P |
|
Pilomatrixoma |
ORPHA:3310 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99413 |
Mosaic Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99228 |
Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99226 |
Turner Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:881 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Pilomatrixoma, Meningioma |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Pilomatrixoma, Meningioma |
ORPHA:353277 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Spasticity, Myoclonus |
OMIM:253280 |
Proteus Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:744 |
Primrose Syndrome |
|
Kyphosis, Posterior scalloping of vertebral bodies, Ataxia, Irregular vertebral endplates |
OMIM:259050 |
Wrinkly Skin Syndrome |
|
Kyphosis, Scoliosis |
OMIM:278250 |
Viss Syndrome |
|
Kyphosis, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Branchiooculofacial Syndrome |
|
Hyperlordosis, Kyphosis, Short neck |
OMIM:113620 |
Yunis-Varon Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae |
OMIM:216340 |
Alström Syndrome |
|
Somatic sensory dysfunction, Incoordination, Ataxia, Thoracic scoliosis, Kyphosis, Poor fine moto... |
ORPHA:64 |