Nondisjunction |
|
Decreased fertility |
OMIM:158250 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication |
OMIM:619491 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Atonic-Astatic Syndrome Of Foerster |
|
Ataxia, Inability to walk, Hypotonia, Abasia, Generalized hypotonia |
OMIM:209100 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response |
OMIM:617028 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi... |
OMIM:618598 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Hypotonia |
OMIM:213000 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Endometriosis, Susceptibility To, 1 |
|
Decreased fertility, Dysmenorrhea, Endometriosis |
OMIM:131200 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Ataxia, Action tremor |
OMIM:300703 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Rigidity, Tremor, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Tremor |
OMIM:610297 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Tremor, Hereditary Essential, 5 |
|
Kinetic tremor, Tongue tremor, Postural tremor, Intention tremor |
OMIM:616736 |
Tremor, Hereditary Essential, 6 |
|
Postural tremor, Kinetic tremor, Head tremor, Vocal tremor |
OMIM:618866 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Autosomal Recessive Spastic Paraplegia Type 71 |
|
Lower limb spasticity, Babinski sign, Hand tremor, Spastic gait, Progressive spastic paraplegia |
ORPHA:401840 |
Developmental And Epileptic Encephalopathy 68 |
|
Spasticity, Clonus, Exaggerated startle response, Myoclonus |
OMIM:618201 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response, Hypertonia |
ORPHA:163985 |
Spastic Paraparesis And Deafness |
|
Tremor, Hypogonadism, Spastic paraparesis |
OMIM:312910 |
Spinocerebellar Ataxia Type 31 |
|
Tremor, Spasticity, Impaired vibratory sensation, Gait ataxia |
ORPHA:217012 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Hypotonia, Gait ataxia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Spinocerebellar Ataxia Type 15/16 |
|
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... |
ORPHA:98769 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Opti... |
OMIM:609541 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Rigidity, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment |
OMIM:617018 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Rigidity, Tremor, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Spermatogenic Failure 17 |
|
Male infertility |
OMIM:617214 |
Cholestasis, Progressive Familial Intrahepatic, 10 |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Jaundice, Acholic stools, Portal fibro... |
OMIM:619868 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Nonprogressive cerebellar ataxia, Truncal ataxia, Generalized hypo... |
ORPHA:94122 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls |
ORPHA:494526 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Hypoalbuminemia, Cardiomegaly |
ORPHA:88643 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Optic disc pallor, Exaggerated startle response, Multiple joint contractures, Optic atrophy, Impa... |
ORPHA:320406 |
Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus |
OMIM:611092 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Progressive spastic quadriplegia, ... |
ORPHA:309246 |
Hyperekplexia 2 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614619 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Leukodystrophy, Hypomyelinating, 13 |
|
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Clonus, Hypertonia,... |
OMIM:616881 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Rigidity, Tremor, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Dystonia, Postural tremor, Involuntary movements, Torsion dyst... |
ORPHA:98807 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Hyperekplexia 3 |
|
Exaggerated startle response, Hypertonia, Myoclonus |
OMIM:614618 |
Spinocerebellar Ataxia 37 |
|
Tremor, Unsteady gait, Frequent falls, Ataxia |
OMIM:615945 |
Tay-Sachs Disease |
|
Exaggerated startle response, Hypertonia, Hypotonia, Generalized hypotonia |
OMIM:272800 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response, Hypertonia |
OMIM:300607 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased circulating creatine kinase MM isoform, Cardiomyopathy, Hypoalbuminemia, Hypermethionin... |
OMIM:613752 |
Spinocerebellar Ataxia Type 38 |
|
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia |
ORPHA:423296 |
Autosomal Spastic Paraplegia Type 72 |
|
Rigidity, Postural tremor, Spastic gait, Impaired vibration sensation at ankles |
ORPHA:401849 |
Immunodeficiency 27A |
|
Anorexia, Splenomegaly, Leukocytosis, Lymphadenopathy, Hepatosplenomegaly, Enlarged mesenteric ly... |
OMIM:209950 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:600116 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... |
ORPHA:95434 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal py... |
OMIM:613135 |
Parkinson-Dementia Syndrome |
|
Rigidity, Tremor, Abnormal pyramidal sign, Parkinsonism |
OMIM:260540 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Diabetes mellitus, Lumbar hyperlordosis, Rigidity, Falls, Difficult... |
ORPHA:3198 |
Episodic Kinesigenic Dyskinesia 2 |
|
Chorea, Paroxysmal dyskinesia, Involuntary movements, Dystonia |
OMIM:611031 |
Hyperekplexia 1 |
|
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls |
OMIM:149400 |
X-Linked Spinocerebellar Ataxia Type 4 |
|
Progressive cerebellar ataxia, Postural tremor, Abnormal pyramidal sign, Difficulty walking |
ORPHA:85292 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
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 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Spinocerebellar Ataxia Type 20 |
|
Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnormal pyramidal sign, Ga... |
ORPHA:101110 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyramidal motor function,... |
OMIM:302500 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Nonprogressive cerebellar ataxia, T... |
ORPHA:314978 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... |
OMIM:619565 |
Sandhoff Disease, Adult Form |
|
Tremor, Gait ataxia, Focal dystonia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Dysmetria, Gait ataxia... |
OMIM:618056 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Limb dystonia |
ORPHA:210571 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Axial hypotonia, Exaggerated startle response, Oculogyric crisis, Babinski sign, Lim... |
OMIM:608643 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Thrombocytopenia, Splenomegaly, Impaired oxidative burs... |
OMIM:226990 |
Tremor Of Intention, Ataxia, And Lipofuscinosis |
|
Ataxia, Intention tremor |
OMIM:190200 |
Tay-Sachs Disease |
|
Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Laryngeal dystonia, Precocious p... |
ORPHA:845 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Dystonia 23 |
|
Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Head tremor, Limb dystonia |
OMIM:614860 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cram... |
OMIM:128100 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired temperature sensation, Flexion contracture, Vocal cord paralysis, Hand tremor, Increased... |
ORPHA:99947 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Dystonia |
OMIM:605909 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Exaggerated startle response, Axial hypotonia, Tremor, Cryptorchidism, Fasciculations, Limb hyper... |
OMIM:620327 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Tremor, Babinski sign, Limb ataxia, Ankle clonus, Hypogonadism, Truncal ataxia, Spasticity |
OMIM:615768 |
Spastic Paraplegia-Paget Disease Of Bone Syndrome |
|
Increased spinal bone density, Recurrent fractures, Babinski sign, Spastic paraplegia, Bone pain,... |
ORPHA:329475 |
Episodic Kinesigenic Dyskinesia 3 |
|
Choreoathetosis, Torticollis, Involuntary movements, Dystonia |
OMIM:620245 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Rigidity, Opisthotonus, Myoclonic spasms, Frequent falls |
OMIM:184850 |
Leishmaniasis |
|
Hepatomegaly, Pancytopenia, Abnormal macrophage morphology, Anorexia, Thrombocytopenia, Splenomeg... |
ORPHA:507 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebellar ataxia, Progressiv... |
ORPHA:284332 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Elevated circulating creatine kinase concentration, Cardiomegaly |
OMIM:604765 |
Tremor, Hereditary Essential, 2 |
|
Kinetic tremor, Upper limb postural tremor |
OMIM:602134 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia, Spasticity, Intenti... |
OMIM:608029 |
Spinocerebellar Ataxia 35 |
|
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... |
OMIM:613908 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia... |
OMIM:607317 |
Diarrhea 13 |
|
Hepatic steatosis, Hypoalbuminemia |
OMIM:620357 |
Sandhoff Disease, Infantile Form |
|
Infantile axial hypotonia, Spasticity, Myoclonus, Exaggerated startle response |
ORPHA:309155 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Rigidity, Tremor, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Lymphoproliferative Syndrome, X-Linked, 1 |
|
Hepatomegaly, Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentratio... |
OMIM:308240 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia, Generalized hypotonia |
OMIM:619099 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response, Hypotonia |
OMIM:620114 |
Nephrotic Syndrome, Type 15 |
|
Hypoalbuminemia |
OMIM:617609 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response, Chorea, Spastic tetraplegia, Hypertonia, Neonatal hypotonia, Spasti... |
OMIM:617864 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Dysplastic testes, Cryptorchidism, Testicular dysgenesis, Tongue fa... |
OMIM:608800 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ankle clonus, Bradykin... |
ORPHA:521406 |
Sandhoff Disease |
|
Exaggerated startle response, Ataxia, Impaired temperature sensation, Hypotonia, Impotence, Fasci... |
OMIM:268800 |
Erythroderma, Lethal Congenital |
|
Hypoalbuminemia |
OMIM:227090 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Axial hypotonia, Myoclonus, Dystonia |
OMIM:619651 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Somatic sensory dysfunction, Parkinsonism, Limb apraxia, Involunta... |
ORPHA:454887 |
Nephrotic Syndrome, Type 2 |
|
Hyperlipidemia, Hypoalbuminemia |
OMIM:600995 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Nephrotic Syndrome, Type 7 |
|
Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia |
OMIM:615008 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Bradykinesia, Dystonia |
OMIM:128235 |
Hemophagocytic Lymphohistiocytosis, Familial, 1 |
|
Hyponatremia, Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Increa... |
OMIM:267700 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypotonia |
OMIM:619561 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... |
OMIM:604326 |
Progressive Myoclonic Epilepsy Type 1 |
|
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor |
ORPHA:308 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spastic paraparesis,... |
ORPHA:423275 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Falls, Shuffling gait, Short stepped shuffl... |
ORPHA:306692 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Paroxysmal Non-Kinesigenic Dyskinesia |
|
Torticollis, Involuntary movements, Joint stiffness, Rigidity, Chorea, Choreoathetosis, Hyperkine... |
ORPHA:98810 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Babinski sign, Limb tremor, Difficulty walking, Spastic gait, Progressive ... |
ORPHA:401820 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus |
OMIM:615957 |
Hepatoportal Sclerosis |
|
Portal hypertension, Nodular regenerative hyperplasia of liver, Portal vein thrombosis, Hypersple... |
ORPHA:64743 |
Autoinflammation With Infantile Enterocolitis |
|
Pancytopenia, Elevated circulating C-reactive protein concentration, Increased circulating ferrit... |
OMIM:616050 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Rapid-Onset Dystonia-Parkinsonism |
|
Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Generalized hypotonia, Limb... |
ORPHA:71517 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Myoclonus, Dystonia, Parkinsonism... |
ORPHA:314632 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypoalbuminemia, Hepatic fibrosis,... |
ORPHA:247585 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Cerebral palsy, Adrenal hyperplasia, Epistaxis, Spastic paraplegia, Abnormal circulating renin, I... |
ORPHA:369929 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Spinocerebellar Ataxia Type 12 |
|
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... |
ORPHA:98762 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616187 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Congestive heart failure, Cranial ne... |
ORPHA:52430 |
Osteoporosis, Childhood- Or Juvenile-Onset, With Developmental Delay |
|
Osteopenia, Broad-based gait, Recurrent fractures, Inability to walk, Spasticity |
OMIM:619884 |
Macrophage Activation Syndrome |
|
Hepatomegaly, Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Increa... |
ORPHA:158061 |
Diarrhea 7, Protein-Losing Enteropathy Type |
|
Hypercholesterolemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:615863 |
Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, H... |
ORPHA:101109 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... |
OMIM:611302 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Spastic paraplegia, Babinski sign, Impaired vibrat... |
ORPHA:251282 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Truncal ataxia,... |
OMIM:616948 |
Focal Segmental Glomerulosclerosis 1 |
|
Hyperlipidemia, Ascites, Hypoalbuminemia, Anemia |
OMIM:603278 |
Developmental And Epileptic Encephalopathy 69 |
|
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... |
OMIM:618285 |
Autosomal Recessive Spastic Paraplegia Type 70 |
|
Lower limb spasticity, Hand tremor, Progressive spastic paraplegia |
ORPHA:401835 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Microcytic anemia, Dilated cardiomyopathy, Hypoalbuminemia, Hepatic steatosis, Panc... |
OMIM:618805 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Edema of the dorsum of fee... |
ORPHA:521426 |
Dystonia 24 |
|
Torticollis, Limb tremor, Blepharospasm, Arm dystonia, Head tremor, Oromandibular dystonia |
OMIM:615034 |
Baker-Gordon Syndrome |
|
Joint laxity, Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic mov... |
OMIM:618218 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Babinski sign, Impaired vibration sens... |
OMIM:600363 |
Migraine, Familial Hemiplegic, 1 |
|
Tremor, Hemiplegia, Ataxia, Hemiparesis |
OMIM:141500 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Joint laxity, Hip contracture, Exaggerated startle response, Genu recurvatum, Clonus, Flexion con... |
OMIM:617301 |
Spinocerebellar Ataxia 23 |
|
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... |
OMIM:610245 |
Nephrotic Syndrome, Type 9 |
|
Hypoalbuminemia |
OMIM:615573 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... |
ORPHA:2590 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Paroxysmal dyskinesia,... |
OMIM:606703 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Focal Segmental Glomerulosclerosis 6 |
|
Hypoalbuminemia |
OMIM:614131 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Rigidity, Tremor, Abnormal pyra... |
ORPHA:240103 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Hypotonia, Myoclonus |
OMIM:616366 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity |
OMIM:615924 |
Congenital Enterovirus Infection |
|
Abnormal macrophage morphology, Fetal ascites, Pericardial effusion, Thrombocytopenia, Leukocytos... |
ORPHA:292 |
Coenzyme Q10 Deficiency, Primary, 3 |
|
Hypoalbuminemia |
OMIM:614652 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Edema, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal p... |
OMIM:617527 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements,... |
OMIM:616981 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Abnormal posturing, Opisthotonus, Inc... |
ORPHA:216866 |
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant |
|
Cerebellar atrophy, Oculogyric crisis, Inability to walk, Chorea, Hyperkinetic movements, Inappro... |
OMIM:614254 |
Spinocerebellar Ataxia 18 |
|
Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Rigidity, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Gait disturbance |
OMIM:618090 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
Hyponatremia, Hepatomegaly, Pancytopenia, Hypertriglyceridemia, Increased circulating ferritin co... |
OMIM:603553 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
Analbuminemia |
|
Increased LDL cholesterol concentration, Hypercholesterolemia, Hypoalbuminemia, Elevated circulat... |
OMIM:616000 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Limb ataxia, Ge... |
OMIM:213200 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Neutrophilia, Hereditary |
|
Splenomegaly, Neutrophilia |
OMIM:162830 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Tremor, Babinski sign, Optic atrophy, Flexion contract... |
OMIM:609260 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Parkinsonism With Polyneuropathy |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:619279 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria, Dystonia, Loss of a... |
OMIM:617916 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, Ataxia, Dystonia |
ORPHA:438216 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve co... |
ORPHA:101075 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Axial hypotonia, Ataxia, Oculogyric crisis, Parkinsonism, Incoordination, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Impaired tandem gait, Bradykinesia, Gait d... |
OMIM:300423 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Tremor, Ataxia, Hypotonia, Limb dystonia |
OMIM:620270 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Myoclonus |
OMIM:615400 |
Developmental And Epileptic Encephalopathy 49 |
|
Exaggerated startle response, Axial hypotonia, Facial-lingual fasciculations, Spastic tetraplegia... |
OMIM:617281 |
Parkinson Disease 22, Autosomal Dominant |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:616710 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Hypotonia, Eyelid myoclonus |
OMIM:616421 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
ORPHA:94124 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Myoclonus, Diff... |
OMIM:159950 |
Eosinophilic Gastroenteritis |
|
Eosinophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:2070 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic atrophy, Difficulty walki... |
ORPHA:330050 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Generalized hypotonia, Dystonia |
ORPHA:306669 |
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... |
ORPHA:420485 |
Spastic Paraplegia 70, Autosomal Recessive |
|
Somatic sensory dysfunction, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis... |
OMIM:620323 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Generalized hypotonia... |
OMIM:617384 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Hypercholesterolemia, Hypoalbuminemia |
OMIM:607250 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Rigidity, Tremor, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus |
OMIM:608105 |
Charcot-Marie-Tooth Disease, Axonal, Type 2F |
|
Decreased motor nerve conduction velocity, Claw hand deformity, Distal sensory impairment, Steppa... |
OMIM:606595 |
Chylomicronemia, Familial, Due To Circulating Inhibitor Of Lipoprotein Lipase |
|
Splenomegaly, Recurrent pancreatitis, Hyperlipoproteinemia |
OMIM:118830 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clu... |
ORPHA:157941 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Babinski sign, Slurred speech, Truncal ataxia, Dysmetria, Gait ataxia, Clumsiness, Unsteady gait,... |
ORPHA:453521 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Thoracic scoliosis, Ataxia,... |
OMIM:610185 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torticollis, Tremor, Torsion dystonia |
OMIM:224500 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Clonus, Impaired pain sensation, A... |
ORPHA:139578 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Elevated circulating creatine kinase concentration, Dementia, Hypoalbuminemia, Cognitive impairme... |
OMIM:208920 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Hypertriglyceridemia, Microcytic anemia, Hepatosplenomegaly, Hypoalbuminemia, Hepatic steatosis |
OMIM:619013 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Impaired vibratory sensation, Torticollis, Hypergonadotropic hypogonadism, Azoospermia, Head trem... |
OMIM:613724 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tremor, Kyphosis, Gait dist... |
ORPHA:101078 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Depletio... |
OMIM:618528 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Broad-based gait, Ataxia, Unsteady gait, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Truncal a... |
OMIM:616127 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Osteopenia, Adrenal hyperplasia, Kyphosis, Decreased circulating ACTH concentration, Osteoporosis... |
OMIM:219080 |
Dystonia 7, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Hand tremor, Clumsiness, Blepharospasm, Oromandibu... |
OMIM:602124 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ata... |
OMIM:616230 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor |
OMIM:601068 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Tremor, Inability to walk... |
ORPHA:101077 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hydrops fetalis, Hypoplastic vertebral bodies, Cardiomyopathy, Plat... |
ORPHA:79255 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Inability to walk... |
OMIM:611890 |
Immunodeficiency 43 |
|
Lung abscess, Decreased circulating beta-2-microglobulin level, B lymphocytopenia, Hypoalbuminemi... |
OMIM:241600 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor... |
OMIM:221770 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, ... |
OMIM:617145 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Z |
|
Decreased motor nerve conduction velocity, Incoordination, Ataxia, Impaired distal proprioception... |
OMIM:616688 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Spastic dysarthria, Blepharospasm, B... |
ORPHA:240094 |
Glut1 Deficiency Syndrome 2 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Irritability, Reduced haptoglobin level |
OMIM:612126 |
Myoclonus-Cerebellar Ataxia-Deafness Syndrome |
|
Progressive cerebellar ataxia, Progressive gait ataxia, Myoclonus, Intention tremor |
ORPHA:2589 |
Spinocerebellar Ataxia 48 |
|
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia |
OMIM:618093 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Immunodeficiency 69 |
|
Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Leukocytosis, Hepatospl... |
OMIM:618963 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Sensory ataxia, Gait ataxia, Intention tremor |
OMIM:620221 |
Trimethylaminuria |
|
Splenomegaly, Depression, Anemia, Neutropenia |
OMIM:602079 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Primary Membranoproliferative Glomerulonephritis |
|
Hypoalbuminemia |
ORPHA:54370 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Impaired vibratory sensation, Resting tremor, Ataxia, Parkinsonism, Spastic paraplegia, Abnormal ... |
OMIM:617225 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Monomelic Amyotrophy |
|
Tremor, Fasciculations |
ORPHA:65684 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Postural tremor, Rigidity, Babinsk... |
ORPHA:101150 |
Chylomicron Retention Disease |
|
Hypotriglyceridemia, Hypoalbuminemia, Decreased LDL cholesterol concentration, Hypocholesterolemia |
OMIM:246700 |
Pontocerebellar Hypoplasia, Type 1E |
|
Cerebellar atrophy, Polyhydramnios, Hypoplasia of the pons, Optic atrophy, Elbow flexion contract... |
OMIM:619303 |
Autosomal Dominant Spastic Paraplegia Type 6 |
|
Impaired vibratory sensation, Lower limb spasticity, Postural tremor, Babinski sign, Spastic para... |
ORPHA:100988 |
Congenital Lethal Erythroderma |
|
Hypoalbuminemia |
ORPHA:1954 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Dilated cardiomyopathy, Optic atrophy, Flexion contracture, Cerebel... |
OMIM:253800 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
Ataxia-Oculomotor Apraxia 4 |
|
Cognitive impairment, Hypercholesterolemia, Hypoalbuminemia, Elevated circulating alpha-fetoprote... |
OMIM:616267 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Abnormal circulating protein concentration, Abnormal circulating polysaccharide concentration, Hy... |
ORPHA:103910 |
Mitochondrial Complex I Deficiency, Nuclear Type 19 |
|
Cerebellar atrophy, Rigidity, Inability to walk, Optic atrophy, Athetosis, Gait disturbance, Myoc... |
OMIM:618241 |
Asparagine Synthetase Deficiency |
|
Exaggerated startle response, Axial hypotonia, Clonus, Tremor, Hypotonia, Spastic tetraplegia, Hy... |
OMIM:615574 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Axial hypotonia, Ataxia |
OMIM:618951 |
Foxg1 Syndrome |
|
Kyphoscoliosis, Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Impaired s... |
ORPHA:561854 |
Hyperbilirubinemia, Shunt, Primary |
|
Reticulocytosis, Hepatomegaly, Anemia of inadequate production, Splenomegaly, Jaundice, Hyperbili... |
OMIM:237800 |
Hemophagocytic Lymphohistiocytosis, Familial, 4 |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
OMIM:603552 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intention tremor |
OMIM:615386 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... |
ORPHA:137898 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... |
ORPHA:247604 |
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 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Osteopenia, Babinski sign, Gait disturbance, Myoclonus, Apraxia, Pathologic fracture |
OMIM:618193 |
Proteasome-Associated Autoinflammatory Syndrome 5 |
|
Splenomegaly, Hepatomegaly, Hypertriglyceridemia |
OMIM:619175 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Increased susceptibility to fractures, Dystonia, Spasticity |
OMIM:304700 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... |
ORPHA:363654 |
Galloway-Mowat Syndrome 6 |
|
Abnormal repetitive mannerisms, Hypoalbuminemia, Paroxysmal bursts of laughter |
OMIM:618347 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Loss of ambulation, Ataxia, Myoclonus |
OMIM:600143 |
Liver Failure, Infantile, Transient |
|
Hepatomegaly, Microvesicular hepatic steatosis, Jaundice, Irritability, Hypoalbuminemia, Macroves... |
OMIM:613070 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal mot... |
OMIM:615362 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Fasciculations, Myoclonus, Spinoce... |
OMIM:183090 |
Fibronectin Glomerulopathy |
|
Hypoalbuminemia |
ORPHA:84090 |
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Ataxia, Parkinsonism, Abnormal cerebellum morphology, Abnormality of extrapyramidal motor functio... |
OMIM:162350 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, Myoclonus, Dystonia |
ORPHA:139485 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Unst... |
ORPHA:397946 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Dilated fourth ventricle, Persistent open anterior fontanelle, Cerebellar vermis hypoplasia, Atax... |
ORPHA:357058 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation |
OMIM:614018 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Imp... |
OMIM:619738 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Optic atrophy, Abnormal pyramidal sign, ... |
OMIM:605259 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia |
OMIM:278780 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
Irritability, Peritonitis, Hypoalbuminemia |
ORPHA:656 |
Hydrops, Lactic Acidosis, And Sideroblastic Anemia |
|
Sideroblastic anemia, Extramedullary hematopoiesis, Overriding aorta, Ventricular septal defect, ... |
OMIM:617021 |
Refractory Celiac Disease |
|
Normocytic anemia, Macrocytic anemia, Microcytic anemia, Hypomagnesemia, Increased proportion of ... |
ORPHA:398063 |
Familial Hemophagocytic Lymphohistiocytosis |
|
Hepatomegaly, Hypertriglyceridemia, Increased circulating ferritin concentration, Thrombocytopeni... |
ORPHA:540 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Wolcott-Rallison Syndrome |
|
Hyponatremia, Hepatomegaly, Jaundice, Hyperammonemia, Iron deficiency anemia, Abnormality of the ... |
ORPHA:1667 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Joint laxity, Cerebellar vermis hypoplasia, Ataxia,... |
ORPHA:251347 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Intracranial hemorrhage, Hypertension... |
ORPHA:403 |
Nephrotic Syndrome, Type 3 |
|
Hypoalbuminemia |
OMIM:610725 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Achilles tendon contracture, Babinski sign, Optic atrophy, Un... |
OMIM:210000 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Rigidity, Tremor, Bradykinesia, Dystonia, Parkinsonism with favorable response to dopaminergic me... |
ORPHA:240085 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria... |
OMIM:607136 |
Lichtenstein-Knorr Syndrome |
|
Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Action tremor |
OMIM:616291 |
Red Cell Phospholipid Defect With Hemolysis |
|
Splenomegaly, Reticulocytosis, Hyperbilirubinemia, Intermittent jaundice |
OMIM:179700 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... |
DECIPHER:29 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sign, Dysmetria, Clumsi... |
ORPHA:284324 |
Alg1-Cdg |
|
Cardiomyopathy, Hypoalbuminemia, Abnormal heart morphology |
ORPHA:79327 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Gait disturbance, ... |
ORPHA:99014 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Niemann-Pick Disease, Type B |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Bone-marrow foam cel... |
OMIM:607616 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Limitation of movement at ankles, Somatic sensory dysf... |
ORPHA:206594 |
Pandas |
|
Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ... |
ORPHA:66624 |
Galloway-Mowat Syndrome 8 |
|
Hypoalbuminemia |
OMIM:618349 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Rigidity, Tremor, Chorea, Babinski sign, Blepharospasm, Cho... |
OMIM:606159 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Creutzfeldt-Jakob Disease |
|
Extrapyramidal muscular rigidity, Abnormal cerebellum morphology, Gait ataxia, Hemiparesis, Myocl... |
OMIM:123400 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... |
ORPHA:391417 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Incoordination, Poor motor coordination, Clonus, Chorea, Babinski sign, Paroxysmal choreoathetosi... |
OMIM:500003 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Spastic tetraparesis, Ataxia, Tremor, Parkinsonism,... |
ORPHA:352649 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Osteopenia, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia,... |
OMIM:617810 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Rigidity, Tremo... |
ORPHA:99750 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Lo... |
OMIM:256731 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Opt... |
ORPHA:98755 |
Nephrotic Syndrome, Type 6 |
|
Hypoalbuminemia |
OMIM:614196 |
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome |
|
Wormian bones, Optic atrophy, Recurrent fractures |
ORPHA:2773 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myoclonus |
OMIM:619028 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... |
ORPHA:477673 |
Alg6-Cdg |
|
Abnormality of the liver, Hypoalbuminemia, Decreased LDL cholesterol concentration, Jaundice |
ORPHA:79320 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... |
ORPHA:225147 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Bradykinesia, Dystonia, Action tremor |
OMIM:606438 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Rigidity, Tremor, Choreoathetosis, Hyperkinetic movements, Generalized... |
OMIM:233910 |
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency |
|
Reticulocytosis, Anisocytosis, Abnormal erythrocyte morphology, Increased circulating ferritin co... |
ORPHA:766 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Osteopenia, Joint laxity, Contracture of the proximal interphalangeal joint of the 2nd finger, De... |
OMIM:130060 |
Leukodystrophy, Hypomyelinating, 6 |
|
Axial hypotonia, Ataxia, Rigidity, Tremor, Hypotonia, Choreoathetosis, Dystonia, Oculomotor aprax... |
OMIM:612438 |
Primary Intestinal Lymphangiectasia |
|
Peritoneal effusion, Pericardial effusion, Abnormal lymphatic vessel morphology, Ascites, Reduced... |
ORPHA:90362 |
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Polyhydramnios, Osteoporosis, Spastic tetraplegia, Myoclonus, Cerebel... |
OMIM:619971 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Bradykinesia, Ankle... |
OMIM:617435 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Kyphosis, Li... |
ORPHA:3095 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, Babins... |
OMIM:615157 |
Combined Saposin Deficiency |
|
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations |
OMIM:611721 |
Spinocerebellar Ataxia 1 |
|
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Spinocereb... |
OMIM:164400 |
Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Pain insensitivity, Osteomyelitis, Neuropathic arthropathy, Impaired temperature sensation, Inabi... |
ORPHA:36386 |
Crigler-Najjar Syndrome Type 1 |
|
Tremor, Infantile muscular hypotonia |
ORPHA:79234 |
Congenital Disorder Of Glycosylation, Type Ih |
|
Hepatomegaly, Thrombocytopenia, Elevated circulating creatinine concentration, Cholestasis, Perim... |
OMIM:608104 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Ataxia, Tremor, Dysmetria, Distal sensory impairment, Gait ataxia, Steppage gait |
OMIM:618387 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
ORPHA:329284 |
Progressive Myoclonic Epilepsy With Dystonia |
|
Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extrapyramidal motor function... |
ORPHA:352596 |
Cataract, Ataxia, Short Stature, And Impaired Intellectual Development |
|
Postural tremor, Ataxia, Hypotonia, Generalized hypotonia |
OMIM:300619 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ... |
ORPHA:90793 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Short attention span, Elevated circulating creatine kinase concentration, Abnormal circulating ho... |
ORPHA:88618 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... |
ORPHA:280219 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Limb ataxia, Hand tremor, Hypoplasia of the ventral pons, Degener... |
OMIM:607596 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Mpi-Cdg |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Portal hypertension |
ORPHA:79319 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Rigidity, Tremor, Choreoathetosis, Bradykinesia, Hypertoni... |
OMIM:261640 |
Intellectual Developmental Disorder, Autosomal Recessive 14 |
|
Intention tremor |
OMIM:614020 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Joint laxity, Cerebellar vermis hypoplasia, Tremor, Abnormal cerebellum morphology, Cryptorchidis... |
OMIM:300957 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Hepatomegaly, Portal hypertension, Dilated cardiomyopathy, Hepatosplenomegaly, Abnormal cardiomyo... |
ORPHA:367 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Optic atrophy, Flexion con... |
OMIM:616505 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Decreased HDL cholesterol concentration, Hypoalbuminemia, Hepatic steatosis, Hyperthreoninemia, H... |
ORPHA:247598 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Elevated circulating creatine kinase concentration, Elevated circulating alpha-fetoprotein concen... |
ORPHA:64753 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Truncal titubation, Hypotonia, Limb ataxia, Dysmetria, Gait ataxia, Impaired ta... |
OMIM:117360 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Osteopenia, Diabetes mellitus, Adrenal hyperplasia, Osteoporosis, Hypertension, Increased circula... |
OMIM:615830 |
Developmental And Epileptic Encephalopathy 92 |
|
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Dystonia, Spasticity |
OMIM:617829 |
Epilepsy, Progressive Myoclonic, 9 |
|
Gait ataxia, Myoclonus, Scoliosis, Action myoclonus, Frequent falls |
OMIM:616540 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... |
OMIM:109150 |
Developmental And Epileptic Encephalopathy 6B |
|
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus, Scoliosis,... |
OMIM:619317 |
Complement Hyperactivation, Angiopathic Thrombosis, And Protein-Losing Enteropathy |
|
Hepatomegaly, Iron deficiency anemia, Hypoalbuminemia, Thrombocytosis, Intestinal lymphangiectasi... |
OMIM:226300 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hypotonia, Spastic tetraparesis |
OMIM:619470 |
Familial Hyperaldosteronism Type Iii |
|
Prolonged QT interval, Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperal... |
ORPHA:251274 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Axial hypotonia, Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait atax... |
OMIM:614831 |
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 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Gait ataxia, Spinocerebellar atrophy, ... |
OMIM:215470 |
Spinocerebellar Ataxia 19 |
|
Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cerebellar ataxia, Myoc... |
OMIM:607346 |
Cerebrotendinous Xanthomatosis |
|
Osteopenia, Abnormal pyramidal sign, Thoracic kyphosis, Hypothyroidism, Abnormal cerebellar pedun... |
ORPHA:909 |
Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent f... |
OMIM:301020 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Hepatomegaly, Elevated circulating alpha-fetoprotein concentration, Portal hypertension, Splenome... |
OMIM:251880 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Testicular atrophy, Decreased fertility, Fasciculations |
OMIM:313200 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Cerebellar hypoplasia, Spasticity, Abnormal ... |
ORPHA:33445 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Osteomyelitis, Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Impaired vi... |
ORPHA:88628 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6 |
|
Decreased motor nerve conduction velocity, Fasciculations, Difficulty walking |
OMIM:615575 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Rigidity, Tremor, Bradykinesia, Dystonia, Lim... |
ORPHA:70594 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Mandibular osteomyelitis, Recurrent fractures, Scoliosis |
ORPHA:53697 |
Autosomal Dominant Spastic Paraplegia Type 19 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:100999 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... |
OMIM:617013 |
Spinocerebellar Ataxia Type 27 |
|
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... |
ORPHA:98764 |
Leukodystrophy, Hypomyelinating, 11 |
|
Tremor, Spasticity, Ataxia, Myoclonus |
OMIM:616494 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Hemochromatosis, Type 2B |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Elevated transferrin sa... |
OMIM:613313 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Tremor, Cryptorchidism, Limitation of joint mobility, Hypertension, Hypertonia, Ga... |
ORPHA:1192 |
Gorham-Stout Disease |
|
Osteopenia, Torticollis, Osteomyelitis, Edema, Spinal cord compression, Osteolysis involving bone... |
ORPHA:73 |
Ceroid Lipofuscinosis, Neuronal, 3 |
|
Parkinsonism, Abnormal cerebellum morphology, Optic atrophy, Concentric hypertrophic cardiomyopat... |
OMIM:204200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B |
|
Decreased motor nerve conduction velocity, Foot osteomyelitis, Somatic sensory dysfunction, Decre... |
OMIM:600882 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Inability to walk, Congestive heart failure, Dilated ca... |
ORPHA:206546 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Parkinsonism, Rigidity, Tremor, Head titubation, Hypotonia, Truncal ataxia, Gait ataxia, Choreoat... |
OMIM:618877 |
Dystonia 6, Torsion |
|
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... |
OMIM:602629 |
Multiple Epiphyseal Dysplasia Type 5 |
|
Osteoarthritis of the small joints of the hand, Abnormal acetabulum morphology, Decreased hip abd... |
ORPHA:93311 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Aicardi-Goutieres Syndrome 9 |
|
Hemolytic anemia, Hepatomegaly, Acute pancreatitis, Pericarditis, Portal hypertension, Pericardia... |
OMIM:619487 |
Hereditary Geniospasm |
|
Abnormal social behavior, Chin myoclonus, Intention tremor |
ORPHA:53372 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bradykinesia,... |
ORPHA:13 |
Ménétrier Disease |
|
Hypoproteinemia, Hypoalbuminemia, Hypochromic microcytic anemia, Anorexia |
ORPHA:2494 |
Refractory Anemia With Excess Blasts |
|
Abnormal circulating protein concentration, Acute myeloid leukemia, Anemia of inadequate producti... |
ORPHA:86839 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Unsteady gait, Spastic ga... |
OMIM:616795 |
Maffucci Syndrome |
|
Neoplasm of the adrenal cortex, Cerebral palsy, Recurrent fractures, Neoplasm of the parathyroid ... |
ORPHA:163634 |
Familial Infantile Bilateral Striatal Necrosis |
|
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Optic atrophy, Gait ataxia, Choreoathetosi... |
ORPHA:225154 |
Myoclonus-Dystonia Syndrome |
|
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus |
ORPHA:36899 |
Childhood-Onset Spasticity With Hyperglycinemia |
|
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Optic atrophy, Spastic diplegi... |
ORPHA:401866 |
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Inability to walk, Choreoathetosis, Hyperkinetic movements, Myoclonus, Dystonia |
OMIM:618497 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Decreased response to growth hormone stimulation test, Hypogonadotrop... |
ORPHA:289494 |
Neurodevelopmental Disorder With Involuntary Movements |
|
Cerebellar atrophy, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dystonia, S... |
OMIM:617493 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Hypertension, Adrenal hyperplasia, Primary amenorrhea, Adrenogenital syndrome |
OMIM:202110 |
Intermediate Nemaline Myopathy |
|
Facial palsy, Polyhydramnios, Multiple prenatal fractures, Flexion contracture, Facial diplegia, ... |
ORPHA:171433 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Decreased nerve conduction velocity, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Kyphoscoliosis, Tremor, Babinski sign, Spastic pa... |
OMIM:300055 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Incoordination, Tremor, Paraparesi... |
OMIM:302800 |
Spinocerebellar Ataxia 8 |
|
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity |
OMIM:608768 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Edema, Impaired temperature sensation, Tremor, Impaired pain sensation, Kyphoscoliosis, Impaired ... |
OMIM:619574 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upp... |
ORPHA:300605 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Puberty and gonadal disorders, Kyphosis, Unsteady g... |
ORPHA:464282 |
Charcot-Marie-Tooth Disease Type 1F |
|
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, O... |
ORPHA:101085 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Osteopenia, Optic disc pallor, Exaggerated startle response, Broad-based gait, Joint laxity, Invo... |
ORPHA:438213 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor... |
ORPHA:79263 |
Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Facial Onset Sensory And Motor Neuronopathy |
|
Paresthesia, Fasciculations |
ORPHA:85162 |
Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Clonus, Babinski sign, Dysmetria, Dysdiadochokinesis, Nonprogressive cerebellar ataxia, Intention... |
OMIM:301310 |
Anemia, Sideroblastic, 3, Pyridoxine-Refractory |
|
Hepatomegaly, Anisocytosis, Conjugated hyperbilirubinemia, Increased circulating ferritin concent... |
OMIM:616860 |
Reni Syndrome |
|
Mental deterioration, Lymphopenia, Hypertriglyceridemia, Hypoalbuminemia |
OMIM:617575 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Decreased response to growth hormone stimulation test, Myocardial infarction, Tremor, Hyperkineti... |
ORPHA:457240 |
Spinocerebellar Ataxia Type 21 |
|
Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor... |
ORPHA:98773 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Waddling gait, Joint laxity, Wormian bones, Isosexual precocious puberty, Osteoporosi... |
ORPHA:2788 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hypertension, Hyperaldosteronism, Decreased circulat... |
OMIM:103900 |
Congenital Disorder Of Glycosylation, Type Ib |
|
Hepatomegaly, Hypoalbuminemia, Hepatic fibrosis, Cirrhosis, Lymphangiectasis |
OMIM:602579 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Focal dystonia, Myoclonu... |
ORPHA:420492 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Hepatomegaly, Decreased circulating ceruloplasmin concentration, Elevated circulating creatine ki... |
OMIM:616828 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Osteopenia, Ataxia, Retinal telangiectasia, Tremor, Optic atrophy, Abnormal pyramidal sign, Osteo... |
OMIM:612199 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia |
OMIM:300983 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Nephrotic Syndrome, Type 11 |
|
Hypercholesterolemia, Ventricular septal defect, Dilated cardiomyopathy, Hypoalbuminemia |
OMIM:616730 |
Sandhoff Disease, Juvenile Form |
|
Cerebellar atrophy, Incoordination, Ataxia, Limb joint contracture, Abnormal pyramidal sign, Abno... |
ORPHA:309162 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease |
|
Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Hepatosplenomeg... |
OMIM:613101 |
Ataxia With Myoclonic Epilepsy And Presenile Dementia |
|
Ataxia, Myoclonus |
OMIM:208700 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 3 |
|
Gastrointestinal hemorrhage, Inability to walk, Recurrent fractures |
OMIM:620368 |
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome |
|
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... |
ORPHA:254343 |
Myoclonus, Cerebellar Ataxia, And Deafness |
|
Ataxia, Myoclonus |
OMIM:159800 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen... |
ORPHA:90791 |
Mucopolysaccharidosis-Plus Syndrome |
|
Hepatomegaly, Thrombocytopenia, Splenomegaly, Leukopenia, Hypertrophic cardiomyopathy, Hypoalbumi... |
OMIM:617303 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Rigidity, Tremor, Paraparesis, Spastic paraplegia, B... |
OMIM:606693 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... |
ORPHA:99027 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Tremor, Hypertension, Hypogonadism, Abnormal autonomic n... |
ORPHA:97229 |
Ataxia With Vitamin E Deficiency |
|
Diabetes mellitus, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dy... |
ORPHA:96 |
Polymyoclonus, Infantile |
|
Ataxia, Myoclonus |
OMIM:263550 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Raynau... |
ORPHA:227510 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Hypogonadotropic hypogonadism, Tremor, Babinski sign... |
OMIM:607694 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Tetraplegia, Hand tremor, Degeneration of anterior horn cells, Distal sensory impairment, Gait di... |
OMIM:604484 |
Multiple Enchondromatosis, Maffucci Type |
|
Multiple enchondromatosis, Pathologic fracture |
OMIM:614569 |
Peroxisome Biogenesis Disorder 5B |
|
Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hypotonia, Neonatal hyp... |
OMIM:614867 |
Bilateral Parasagittal Parieto-Occipital Polymicrogyria |
|
Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior |
ORPHA:208441 |
Hypergonadotropic Hypogonadism-Cataract Syndrome |
|
Hypergonadotropic hypogonadism, Recurrent fractures, Increased circulating gonadotropin level, Ab... |
ORPHA:2410 |
Autosomal Dominant Spastic Paraplegia Type 8 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:100989 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia |
OMIM:618637 |
Amoebiasis Due To Entamoeba Histolytica |
|
Liver abscess, Lung abscess, Abnormal pericardium morphology, Leukocytosis, Hypoalbuminemia, Cons... |
ORPHA:67 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Ataxia, Poor motor coordination, Tremor, Hypotonia, Dysmetria, Gait ataxia, Oculomotor apraxia, S... |
ORPHA:1170 |
Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia |
OMIM:619724 |
Monosomy 5P |
|
Joint hyperflexibility, Recurrent fractures, Abnormality of bone mineral density, Scoliosis |
ORPHA:281 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive |
|
Decreased circulating ceruloplasmin concentration, Decreased circulating copper concentration, Hy... |
OMIM:242150 |
Trisomy X |
|
Tremor, Hypotonia, Secondary amenorrhea |
ORPHA:3375 |
Developmental And Epileptic Encephalopathy 16 |
|
Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, Myoclonus, Dystonia |
OMIM:615338 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Co... |
ORPHA:3077 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Limb joint contracture, Rigidity, Chorea, Babin... |
OMIM:617282 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Cryptorchidism, Abnormal pyramidal sign, Eyelid myoclonus, Pontoc... |
OMIM:618060 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Gait disturbance, Fasciculations |
OMIM:608030 |
Intermediate Osteopetrosis |
|
Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical sclerosis, ... |
ORPHA:210110 |
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Pericardial effusion, Babinski sign, Op... |
OMIM:620089 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar ... |
ORPHA:284289 |
Nephrotic Syndrome, Type 1 |
|
Hypoproteinemia, Hyperlipidemia, Hypoalbuminemia |
OMIM:256300 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Immunodeficiency 53 |
|
Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia |
OMIM:617585 |
Bacterial Toxic-Shock Syndrome |
|
Elevated circulating creatine kinase concentration, Abscess, Confusion, Myocarditis, Peritonitis,... |
ORPHA:36234 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Amish Nemaline Myopathy |
|
Neonatal hypotonia, Tremor |
ORPHA:98902 |
Developmental And Epileptic Encephalopathy 11 |
|
Hyperkinetic movements, Spastic tetraplegia |
OMIM:613721 |
Avian Influenza |
|
Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce... |
ORPHA:454836 |
Ceroid Lipofuscinosis, Neuronal, 1 |
|
Ataxia, Flexion contracture, Optic atrophy, Myoclonus, Spasticity |
OMIM:256730 |
Al Amyloidosis |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Howell-Jolly bodies, Abnormal cardia... |
ORPHA:85443 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism |
ORPHA:178509 |
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function |
OMIM:204300 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Chorea, Insulin-resistant diabetes mellitus, Optic... |
ORPHA:401768 |
Autosomal Recessive Spastic Paraplegia Type 48 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Spastic gait, Progressi... |
ORPHA:306511 |
Bruck Syndrome 1 |
|
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... |
OMIM:259450 |
Fragile X Tremor/Ataxia Syndrome |
|
Resting tremor, Premature ovarian insufficiency, Postural tremor, Parkinsonism, Action tremor, Im... |
OMIM:300623 |
Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Impaired vibratory sensation, Arthropathy, Pain insensitivity, Osteomyelitis, Recurrent fractures... |
OMIM:608654 |
Mazabraud Syndrome |
|
Bone pain, Recurrent fractures |
ORPHA:57782 |
Idiopathic Steroid-Resistant Nephrotic Syndrome |
|
Hypertriglyceridemia, Peritonitis, Hypoalbuminemia, Hypercholesterolemia, Abnormal circulating li... |
ORPHA:567548 |
Autosomal Dominant Spastic Paraplegia Type 37 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:171612 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Impaired distal vibration sensation, Distal sensory im... |
OMIM:614436 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Lower limb spasticity, Decreased circulating cortisol level, Ataxia, Spastic tetraparesis, Inabil... |
ORPHA:139396 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Impaired vibratory sensation, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign, Dysmetr... |
ORPHA:459056 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Osteopenia, Tremor, Optic atrophy, Osteoporosis, Dysmetria, Gait ataxia, Cere... |
ORPHA:529665 |
Nephrotic Syndrome, Type 8 |
|
Hypoalbuminemia |
OMIM:615244 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypertensi... |
ORPHA:231580 |
Acute Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529799 |
Chronic Bilirubin Encephalopathy |
|
Hemolytic anemia, Hypoalbuminemia, Prolonged neonatal jaundice, Hypernatremia, Neonatal hyperbili... |
ORPHA:529808 |
Generalized Pustular Psoriasis |
|
Hyponatremia, Elevated circulating C-reactive protein concentration, Leukocytosis, Hypoalbuminemi... |
ORPHA:247353 |
Splenoportal Vascular Anomalies |
|
Anomalous splenoportal venous system, Splenomegaly, Hyperammonemia, Hepatic fibrosis, Cirrhosis, ... |
OMIM:271500 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dystonia, Ataxia, Babinski sign, Optic atrophy, Dilated cardiomyopathy, Flexion contracture, Hype... |
OMIM:252011 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Babinski sign, Unstead... |
OMIM:609270 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Gait d... |
ORPHA:508093 |
Osteogenesis Imperfecta, Type V |
|
Osteopenia, Hyperextensibility of the finger joints, Hyperextensibility at elbow, Recurrent fract... |
OMIM:610967 |
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum |
|
Arthropathy, Papilledema, Osteopenia, Premature thelarche, Sclerotic cranial sutures, Osteolysis ... |
ORPHA:371428 |
Autosomal Dominant Spastic Paraplegia Type 42 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:171863 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Babins... |
ORPHA:88644 |
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction |
|
Cerebellar atrophy, Hyperextensibility of the finger joints, Ataxia, Decreased nerve conduction v... |
OMIM:618356 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Spasticity, Ataxia, Myoclonus |
OMIM:545000 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Loss of ambulation, Amyotrophic lateral sclerosis, Tongue fasciculations, Fasciculations |
OMIM:613435 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... |
OMIM:608627 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Kallmann Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Dyspareunia, Hypogonadotropic hypogonadis... |
ORPHA:478 |
Pontocerebellar Hypoplasia, Type 4 |
|
Polyhydramnios, Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Congenit... |
OMIM:225753 |
Salt And Pepper Developmental Regression Syndrome |
|
Choreoathetosis, Optic atrophy, Myoclonus |
OMIM:609056 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Rigidit... |
OMIM:612953 |
Sialidosis Type 2 |
|
Ataxia, Tremor, Kyphosis, Flexion contracture, Osteoporosis, Hydrops fetalis, Pedal edema, Ascites |
ORPHA:87876 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Optic disc pallor, Torticollis, Impaired distal vibration sensation, Optic at... |
ORPHA:98768 |
Hypermanganesemia With Dystonia 1 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordination, Abnormality of extrap... |
OMIM:613280 |
Aicardi-Goutieres Syndrome 6 |
|
Rigidity, Loss of ambulation, Tremor, Dystonia |
OMIM:615010 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Osteoporosis, Hyperte... |
OMIM:615954 |
Developmental And Epileptic Encephalopathy 40 |
|
Choreoathetosis, Spasticity, Myoclonus, Spastic tetraparesis |
OMIM:617065 |
Anemia, Hypochromic Microcytic, With Iron Overload 2 |
|
Hepatomegaly, Increased circulating ferritin concentration, Elevated transferrin saturation, Sple... |
OMIM:615234 |
Hemochromatosis, Type 3 |
|
Increased circulating ferritin concentration, Elevated transferrin saturation, Cardiomyopathy, In... |
OMIM:604250 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... |
OMIM:607483 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Head titubation, Inabilit... |
OMIM:312080 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Congenital hip dislocation, Chorea, Reduced bone mineral density, Shoulder dislocation, Delayed s... |
ORPHA:404454 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Blep... |
ORPHA:101 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Spasticity, Hypertonia, Exaggerated startle response |
OMIM:618367 |
Cystathioninuria |
|
Tremor |
ORPHA:212 |
Ceroid Lipofuscinosis, Neuronal, 2 |
|
Ataxia, Myoclonus |
OMIM:204500 |
Progressive Myoclonic Epilepsy Type 3 |
|
Progressive truncal ataxia, Cerebellar atrophy, Optic atrophy, Progressive cerebellar ataxia, Chi... |
ORPHA:263516 |
Familial Papillary Or Follicular Thyroid Carcinoma |
|
Follicular thyroid carcinoma, Recurrent fractures, Spinal cord compression, Bone pain, Papillary ... |
ORPHA:319487 |
Variant Abeta2M Amyloidosis |
|
Spinal cord compression, Reduced left ventricular ejection fraction, Wrist pain, Abnormal autonom... |
ORPHA:314652 |
Trichohepatoenteric Syndrome 1 |
|
Hepatomegaly, Ventricular septal defect, Increased mean platelet volume, Abnormality of the pancr... |
OMIM:222470 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Bradykinesia, Gait disturb... |
OMIM:615530 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebellar hypoplasia, Dys... |
OMIM:619422 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Normochromic anemia, Hypoalbuminemia, Dysphagia, Mental deterioration, Thrombocytopenia |
OMIM:254900 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Ataxia, Babinski sign, Spastic diplegia, Myoclonus, Dystonia |
OMIM:619065 |
Multiple Pterygium Syndrome, Lethal Type |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Multiple pterygia, Polyhydramni... |
OMIM:253290 |
Classic Galactosemia |
|
Reduced bone mineral density, Male infertility, Premature ovarian insufficiency, Ataxia, Cryptorc... |
ORPHA:79239 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Broad-based gait, Ataxia, Paraparesis, Inability to walk, Oromotor apraxia... |
OMIM:617854 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Dystonia, Ataxia, Head titubation, Dysmetria, Myoclonus, Truncal ataxia, Abnormal vertebral morph... |
OMIM:250620 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Telangiectasia of the skin, Lymphedema, Hemiplegia/hemiparesis, Optic atrophy, Abnormal pyramidal... |
ORPHA:79279 |
Beta-Thalassemia |
|
Hepatomegaly, Abnormal hemoglobin, Microcytic anemia, Thrombocytopenia, Splenomegaly, Hepatitis, ... |
ORPHA:848 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated cardiomyo... |
OMIM:600649 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Tetrapa... |
OMIM:263570 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Decreased serum iron, Dilated cardiomyopathy, Dysphagia, Depression, Anemia, Decreased serum zinc... |
ORPHA:89842 |
Hemochromatosis, Type 2A |
|
Hepatomegaly, Splenomegaly, Increased circulating ferritin concentration, Dilated cardiomyopathy,... |
OMIM:602390 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Hypogonadotropic hypogonadism, Tremor, Optic atrophy, Abnormal pyrami... |
OMIM:614381 |
Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Ataxia, Myoclonus, Dysmetria |
OMIM:619191 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Kinetic tremor |
OMIM:190310 |
Huntington Disease |
|
Clonus, Involuntary movements, Abnormal libido, Rigidity, Inability to walk, Chorea, Babinski sig... |
ORPHA:399 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Axial hypotonia, Limb hypertonia |
OMIM:617162 |
Osteopetrosis, Autosomal Dominant 2 |
|
Recurrent fractures, Facial palsy, Mandibular osteomyelitis, Abnormality of the vertebral endplat... |
OMIM:166600 |
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome |
|
Hyperkinetic movements, Impaired social interactions |
ORPHA:397933 |
Restless Legs Syndrome, Susceptibility To, 1 |
|
Paresthesia, Myoclonus |
OMIM:102300 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Distal sensory impairment, Steppage gait, Gait... |
OMIM:118300 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Delayed skeletal maturation,... |
OMIM:601162 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Jo... |
OMIM:617664 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation |
OMIM:619405 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2 |
|
Hypoalbuminemia |
OMIM:614441 |
Osteogenesis Imperfecta, Type Ix |
|
Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondyly, Decreased calvarial os... |
OMIM:259440 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Progressive neurologic deterioration, Bile duct proliferation, Hypoalbuminemia, Macrovesicular he... |
OMIM:618329 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination |
ORPHA:36387 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Gerstmann-Straussler Disease |
|
Parkinsonism, Rigidity, Tremor, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... |
OMIM:137440 |
Wilson Disease |
|
Hemolytic anemia, Hepatomegaly, Decreased circulating ceruloplasmin concentration, Hypouricemia, ... |
OMIM:277900 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Neutropenia, Abnormal blo... |
ORPHA:37042 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Congenital adrenal hyperplasia, Accelerated bone age after puberty, Increased s... |
ORPHA:96181 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... |
ORPHA:35689 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Arthrogryposis, Distal, Type 2A |
|
Joint dislocation, Polyhydramnios, Knee flexion contracture, Spina bifida occulta, Wrist flexion ... |
OMIM:193700 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia, Spastic paraparesis |
OMIM:300894 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Hyperintensity of MRI T2 signal of the spinal cord, Broad-based gait, Flexion contracture of fing... |
OMIM:609033 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Cerebral hemorrhage, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spastic... |
ORPHA:542310 |
Congenital Analbuminemia |
|
Hyperlipidemia, Increased alpha-globulin, Hypoalbuminemia, Hypercholesterolemia, Hypoproteinemia |
ORPHA:86816 |
Harderoporphyria |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Increased circulating ferritin concentration, Sp... |
OMIM:618892 |
Porphyria Due To Ala Dehydratase Deficiency |
|
Hyponatremia, Restlessness, Confusion, Abnormal erythrocyte enzyme level, Abnormal circulating po... |
ORPHA:100924 |
Hsd10 Disease, Infantile Type |
|
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... |
ORPHA:391428 |
Dystonia 15, Myoclonic |
|
Dystonia, Writer's cramp, Myoclonus |
OMIM:607488 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu... |
ORPHA:313772 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Hyperaldosteronism, Familial, Type Iii |
|
Hypertension, Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Hyperkinetic movements, Ataxia |
OMIM:271980 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Chorea, Athetosis, Myoclonus, Dandy-Walker malformation |
OMIM:617235 |
Neutropenia, Severe Congenital, 5, Autosomal Recessive |
|
Hepatomegaly, Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropen... |
OMIM:615285 |
Pontocerebellar Hypoplasia Type 4 |
|
Polyhydramnios, Olivopontocerebellar hypoplasia, Hypertonia, Myoclonus, Arthrogryposis multiplex ... |
ORPHA:166063 |
Autosomal Dominant Spastic Paraplegia Type 12 |
|
Lower limb spasticity, Clonus, Babinski sign, Impaired vibration sensation in the lower limbs, Sp... |
ORPHA:100993 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus |
OMIM:619092 |
Neutral Lipid Storage Disease With Myopathy |
|
Cardiomyopathy, Diabetes mellitus, Fasciculations, Difficulty walking |
OMIM:610717 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Elevated circulating creatine kinase concentration, Anemia, Cardiomegaly |
OMIM:618838 |
Bile Acid Synthesis Defect, Congenital, 5 |
|
Hepatomegaly, Portal hypertension, Splenomegaly, Jaundice, Iron deficiency anemia, Portal fibrosi... |
OMIM:616278 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Rigidity, Spasticity, Hypertonia, Tremor |
OMIM:176500 |
Primary Sclerosing Cholangitis |
|
Hepatomegaly, Cholangiocarcinoma, Abnormal eosinophil morphology, Portal hypertension, Hepatocell... |
ORPHA:171 |
Pyruvate Kinase Deficiency Of Red Cells |
|
Reticulocytosis, Decreased hemoglobin concentration, Hepatomegaly, Reduced red cell pyruvate kina... |
OMIM:266200 |
Solitary Bone Cyst |
|
Abnormal spinal cord morphology, Bone pain, Abnormal form of the vertebral bodies, Pathologic fra... |
ORPHA:83468 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Mcleod Syndrome |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Acanthocytosis, Splenomegaly, D... |
OMIM:300842 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Polyhydramnios, Tremor, Congestive heart failure, Flexion contracture... |
OMIM:616271 |
Congenital Disorder Of Glycosylation, Type In |
|
Spasticity, Ataxia, Myoclonus |
OMIM:612015 |
Peho-Like Syndrome |
|
Cerebellar atrophy, Optic atrophy, Myoclonus, Edema |
OMIM:617507 |
Benign Adult Familial Myoclonic Epilepsy |
|
Myoclonus, Hand tremor |
ORPHA:86814 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Optic disc pallor, Tachycardia, Hypergonadotropic hypogonadism, Tre... |
OMIM:619737 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Conjugated hyperbilirubinemia, Intrahepatic cholestasis, Jaundice, Hyperammonemia, Decreased seru... |
OMIM:617093 |
Hypophosphatasia, Infantile |
|
Craniosynostosis, Polyhydramnios, Vertebral clefting, Increased susceptibility to fractures, Intr... |
OMIM:241500 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi... |
OMIM:617302 |
Idiopathic Juvenile Osteoporosis |
|
Recurrent fractures, Kyphosis, Bone pain, Osteoporosis, Gait disturbance, Vertebral compression f... |
ORPHA:85193 |
Valinemia |
|
Hyperkinetic movements |
OMIM:277100 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7 |
|
Rigidity, Babinski sign, Inappropriate behavior, Gait disturbance, Myoclonus, Dystonia |
OMIM:600795 |
Osteogenesis Imperfecta, Type Xv |
|
Recurrent fractures, Hypoplasia of the pons, Platyspondyly, Cerebellar hypoplasia, Scoliosis, Bow... |
OMIM:615220 |
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency |
|
Unsteady gait, Hypertonia, Myoclonus |
OMIM:610090 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Spastic paraplegia, Babinski sign, Impaired distal vibration sensation, Tetraplegia, Pseu... |
OMIM:616586 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Joint hypermobility, Joint stiffness, Tremor, Inabilit... |
OMIM:617988 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hemolytic anemia, Pancytopenia, Hepatomegaly, Follicular hyperplasia, Autoimmune thrombocytopenia... |
OMIM:614470 |
Sialidosis Type 1 |
|
Ataxia, Decreased nerve conduction velocity, Tremor, Kyphosis, Delayed skeletal maturation, Slurr... |
ORPHA:812 |
Fanconi Anemia, Complementation Group V |
|
Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Bone marrow hypocellulari... |
OMIM:617243 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Hip contracture, Ankle flexion contracture, Flexion contracture, Hip dislocation, Elbow flexion c... |
ORPHA:1143 |
Dehydrated Hereditary Stomatocytosis 2 |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Increase... |
OMIM:616689 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Hyperinsulinemia, Gait ataxia, ... |
ORPHA:363400 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal ... |
OMIM:603516 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Full Schwannomatosis |
|
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Spinal cord tu... |
ORPHA:93921 |
Beta-Thalassemia, Dominant Inclusion Body Type |
|
Hepatomegaly, Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Ery... |
OMIM:603902 |
Developmental And Epileptic Encephalopathy 72 |
|
Inability to walk, Hyperkinetic movements |
OMIM:618374 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... |
OMIM:602099 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thy... |
ORPHA:99889 |
Developmental And Epileptic Encephalopathy 27 |
|
Chorea, Myoclonus, Spasticity, Dystonia |
OMIM:616139 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Hyperthyroidism, Tremor, Generalized joint laxity... |
ORPHA:502423 |
Cln5 Disease |
|
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... |
ORPHA:228360 |
T-Cell Lymphoma, Subcutaneous Panniculitis-Like |
|
Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, H... |
OMIM:618398 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno... |
ORPHA:90790 |
Adult-Onset Still Disease |
|
Hepatomegaly, Pericarditis, Generalized lymphadenopathy, Neutrophilia, Elevated circulating C-rea... |
ORPHA:829 |
Alexander Disease |
|
Ataxia, Babinski sign, Dysmetria, Spasticity, Abnormal dentate nucleus morphology, Palatal tremor |
OMIM:203450 |
Hereditary Hyperekplexia |
|
Joint dislocation, Ataxia, Joint stiffness, Rigidity, Hip dislocation, Hypertonia, Gait disturban... |
ORPHA:3197 |
Hypocalcemic Vitamin D-Resistant Rickets |
|
Joint dislocation, Hyperparathyroidism, Osteomalacia, Recurrent fractures, Bone pain, Osteolysis,... |
ORPHA:93160 |
Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Lower limb spasticity, Cryptorchidism, Chorea, Unsteady gait, Progressive cerebellar ataxia, Uppe... |
ORPHA:485350 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, B... |
ORPHA:458803 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Cholestasis-Lymphedema Syndrome |
|
Hepatomegaly, Conjugated hyperbilirubinemia, Splenomegaly, Hyperlipidemia, Jaundice, Cirrhosis, N... |
OMIM:214900 |
Abetalipoproteinemia |
|
Decreased HDL cholesterol concentration, Reticulocytosis, Hepatomegaly, Cardiomegaly, Acanthocyto... |
ORPHA:14 |
Superficial Siderosis |
|
Impaired temperature sensation, Abnormal pyramidal sign, Dysmetria, Progressive gait ataxia, Inte... |
ORPHA:247245 |
Doors Syndrome |
|
Small cerebellar cortex, Adrenal hyperplasia, Polyhydramnios, Sagittal craniosynostosis, Optic at... |
ORPHA:79500 |
Continuous Spikes And Waves During Sleep |
|
Speech apraxia, Dystonia, Hyperkinetic movements, Clumsiness |
ORPHA:725 |
Lymphoproliferative Syndrome 1 |
|
Hepatomegaly, Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein ... |
OMIM:613011 |
Osteogenesis Imperfecta, Type Xi |
|
Osteopenia, Joint laxity, Protrusio acetabuli, Kyphoscoliosis, Recurrent fractures, Vertebral wed... |
OMIM:610968 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Dilated fourth ventricle, Facial-ling... |
ORPHA:276244 |
Prader-Willi Syndrome |
|
Osteopenia, Decreased response to growth hormone stimulation test, Edema, Impaired temperature se... |
ORPHA:739 |
Osteogenesis Imperfecta, Type Xix |
|
Osteopenia, Recurrent fractures, Multiple prenatal fractures, Vertebral wedging, Scoliosis, Bicon... |
OMIM:301014 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Multiple prenatal fractures, Decreased calvarial ossification, Stillbirth, Bowing of limbs due to... |
OMIM:259410 |
Hennekam Lymphangiectasia-Lymphedema Syndrome 1 |
|
Hyperactivity, Pericardial lymphangiectasia, Ventricular septal defect, Thyroid lymphangiectasia,... |
OMIM:235510 |
Myopathy, Mitochondrial, And Ataxia |
|
Hyperthyroidism, Ataxia, Tremor, Inability to walk, Delayed skeletal maturation, Limb ataxia, Dys... |
OMIM:617675 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Abnormal cerebellum morphology, Babi... |
ORPHA:447753 |
Alpers-Huttenlocher Syndrome |
|
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... |
ORPHA:726 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia |
OMIM:168600 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Brain abscess, Neutrophilia, Liver abscess, Elevated circulating C-reactive protein concentration... |
ORPHA:54251 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Osteopenia, Fractured radius, Polyhydramnios, Multiple prenatal fractures, Flexion contracture, H... |
OMIM:616897 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... |
ORPHA:247234 |
Ataxia-Telangiectasia |
|
Diabetes mellitus, Ataxia, Telangiectasia of the skin, Tremor, Polycystic ovaries, Gait disturban... |
ORPHA:100 |
Rin2 Syndrome |
|
Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Cryptorchidism, Upper eyelid ede... |
ORPHA:217335 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Conjunctival telangiectasia, Tremo... |
OMIM:606002 |
Primary Biliary Cholangitis |
|
Portal hypertension, Conjugated hyperbilirubinemia, Jaundice, Biliary cirrhosis, Hepatitis, Abnor... |
ORPHA:186 |
Marburg Hemorrhagic Fever |
|
Reticulocytosis, Lymphopenia, Pericarditis, Elevated circulating creatine kinase concentration, H... |
ORPHA:99826 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Ataxia, Tremor, Myoclonus |
OMIM:607876 |
Myopathy With Extrapyramidal Signs |
|
Joint laxity, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosis, Abnorma... |
OMIM:615673 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Hypertyrosinemia, Conjugated hyperbilirubinemia, Microvesicular hepatic steatosis, Jaundice, Chol... |
OMIM:617156 |
Acquired Idiopathic Sideroblastic Anemia |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate produ... |
ORPHA:75564 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi... |
OMIM:615356 |
Microtriplication 11Q24.1 |
|
Speech apraxia, Joint dislocation, Limitation of joint mobility, Genu valgum, Retrocerebellar cys... |
ORPHA:289522 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Lower limb spasticity, Weakness due to upper motor neuron dysfunction, Kypho... |
ORPHA:466722 |
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency |
|
Reticulocytosis, Anisocytosis, Splenomegaly, Leukocytosis, Jaundice, Prolonged neonatal jaundice,... |
OMIM:300908 |
Pediatric-Onset Graves Disease |
|
Atrial fibrillation, Craniosynostosis, Accelerated skeletal maturation, Tremor, Puberty and gonad... |
ORPHA:525731 |
Pycnodysostosis |
|
Joint laxity, Decreased serum insulin-like growth factor 1, Persistent open anterior fontanelle, ... |
ORPHA:763 |
Multiple Pterygium Syndrome, X-Linked |
|
Joint dislocation, Vertebral fusion, Abnormal cervical curvature, Polyhydramnios, Edema, Multiple... |
OMIM:312150 |
Adrenomyeloneuropathy |
|
Female sexual dysfunction, Abnormal libido, Dysesthesia, Atrophy of the spinal cord, Progressive ... |
ORPHA:139399 |
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive |
|
Neuromyotonia, Fasciculations, Distal sensory impairment |
OMIM:137200 |
Alpha-Thalassemia |
|
Hemolytic anemia, Abnormal hemoglobin, Microcytic anemia, Hypersplenism, Splenomegaly, Jaundice, ... |
ORPHA:846 |
Apolipoprotein C-Ii Deficiency |
|
Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Increased circulating chylomicron concentration... |
OMIM:207750 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type |
|
Hypertonia, Limb tremor, Myoclonus |
OMIM:300699 |
Spherocytosis, Type 4 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia |
OMIM:612653 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Facial-lingual fasciculations, Babinski sign, Vocal... |
ORPHA:276241 |
Spinal Muscular Atrophy, Ryukyuan Type |
|
Fasciculations, Kyphoscoliosis |
OMIM:271200 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Hypotonia, Choreoathetosis, Myoclonus, Generalized hypotonia, Dystonia, Episodic ataxia |
OMIM:312170 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor |
ORPHA:363717 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia |
OMIM:619556 |
Neonatal Severe Primary Hyperparathyroidism |
|
Abnormality of the thyroid gland, Abnormal circulating calcium-phosphate regulating hormone conce... |
ORPHA:417 |
Encephalopathy Due To Prosaposin Deficiency |
|
Myoclonus, Dystonia |
ORPHA:139406 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... |
ORPHA:52368 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Chorea, Truncal ataxia, Hyperkinetic movements, Scoliosis, Difficulty walking |
ORPHA:369847 |
Beta-Thalassemia Intermedia |
|
Hypoparathyroidism, Osteopenia, Diabetes mellitus, Spinal cord compression, High-output congestiv... |
ORPHA:231222 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hypertonia, ... |
OMIM:614153 |
Thyrocerebrorenal Syndrome |
|
Euthyroid goiter, Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia |
ORPHA:3327 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T... |
OMIM:619802 |
Albers-Schönberg Osteopetrosis |
|
Joint dislocation, Osteomyelitis, Facial palsy, Recurrent fractures, Mandibular osteomyelitis, Ge... |
ORPHA:53 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Hepatomegaly, Pericarditis, Pericardial effusion, Cardiomyopathy, Hypoalbuminemia, Hepatic fibros... |
OMIM:212065 |
Osteogenesis Imperfecta, Type Xiv |
|
Osteopenia, Recurrent fractures, Scoliosis, Increased susceptibility to fractures |
OMIM:615066 |
Diarrhea 10, Protein-Losing Enteropathy Type |
|
Hyponatremia, Hypertriglyceridemia, Pericardial effusion, Hypoalbuminemia, Hypocalcemia, Hypomagn... |
OMIM:618183 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Spasticity, Infantile muscular hypotonia |
OMIM:618718 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Recurrent fractures, Severe generalized osteoporosis, Multiple prenatal frac... |
OMIM:259420 |
Osteogenesis Imperfecta, Type Vi |
|
Joint laxity, Protrusio acetabuli, Vertebral compression fracture, Increased susceptibility to fr... |
OMIM:613982 |
Familial Dysautonomia |
|
Orthostatic hypotension, Tachycardia, Ataxia, Recurrent fractures, Impaired pain sensation, Optic... |
ORPHA:1764 |
Paget Disease Of Bone 2, Early-Onset |
|
Sandwich appearance of vertebral bodies, Paraparesis, Fractures of the long bones, Bone pain, Ost... |
OMIM:602080 |
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige |
|
Hypernatremia, Hypoalbuminemia, Pulmonic stenosis, Multiple muscular ventricular septal defects |
OMIM:615508 |
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency |
|
Normocytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Normochromic anemia, Cholecystitis, H... |
OMIM:235700 |
Primary Progressive Freezing Gait |
|
Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Gait imbalance, Shuffling gait, D... |
ORPHA:75567 |
Juvenile Polyposis Syndrome |
|
Hypokalemia, Hypoalbuminemia, Anemia |
OMIM:174900 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Choreoathetosis |
OMIM:612164 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Joint laxity, Tremor, Cryptorchidism, Kyphosis, Gait ataxia, Hypogonadism, Delayed puberty, Decre... |
OMIM:300354 |
Marshall-Smith Syndrome |
|
Craniosynostosis, Accelerated skeletal maturation, Optic atrophy, Reduced bone mineral density, I... |
ORPHA:561 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Hepatosplenomegaly, Anemia, Leukopenia, Abnormal heart morphology, Hypertrophic cardiomyopathy, H... |
ORPHA:505248 |
Griscelli Syndrome Type 2 |
|
Hepatomegaly, Pancytopenia, Splenomegaly, Hyperlipidemia, Jaundice, Lymphadenopathy, Hemophagocyt... |
ORPHA:79477 |
Hyperekplexia 4 |
|
Kyphoscoliosis, Flexion contracture, Hypertonia, Distal arthrogryposis, Myoclonus, Camptodactyly |
OMIM:618011 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
Osteogenesis Imperfecta, Type Xxii |
|
Recurrent fractures, Multiple prenatal fractures, Multiple small vertebral fractures, Reduced bon... |
OMIM:619795 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
Neuroferritinopathy |
|
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... |
ORPHA:157846 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Confusion, Cardiomegaly, Microv... |
OMIM:212140 |
Spherocytosis, Type 2 |
|
Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbi... |
OMIM:616649 |
Dehydrated Hereditary Stomatocytosis |
|
Hemolytic anemia, Reticulocytosis, Macrocytic anemia, Polycythemia, Anemia of inadequate producti... |
ORPHA:3202 |
Infantile Systemic Hyalinosis |
|
Osteopenia, Telangiectasia of the skin, Camptodactyly of finger, Osteomalacia, Lymphedema, Recurr... |
ORPHA:2176 |
Gaucher Disease Type 3 |
|
Increased bone mineral density, Ataxia, Pericardial effusion, Delayed skeletal maturation, Bone p... |
ORPHA:77261 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation, Impaired tactile sensation, Gait... |
ORPHA:466768 |
Multiple Endocrine Neoplasia Type 1 |
|
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... |
ORPHA:652 |
Hypophosphatasia, Adult |
|
Arthropathy, Recurrent fractures, Osteomalacia, Rickets, Increased susceptibility to fractures, P... |
OMIM:146300 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb... |
ORPHA:765 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypotonia, Dysmetria |
OMIM:615578 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Tethered cord, Cryptorchidism, Hydrocele testis, Chordee, Scoliosis... |
OMIM:619522 |
Spherocytosis, Type 1 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Hyperbilirubinemia, Cho... |
OMIM:182900 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Gait disturbance, Impaired social interactions, Abnormality of... |
ORPHA:544254 |
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia |
|
Spasticity, Ataxia, Myoclonus, Dystonia |
OMIM:620094 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spasticity |
OMIM:616840 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Cardiomyopathy, Fasci... |
ORPHA:329478 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... |
ORPHA:33069 |
Bruck Syndrome 2 |
|
Osteopenia, Flexion contracture, Elbow flexion contracture, Knee flexion contracture, Increased s... |
OMIM:609220 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Loss of ability to walk in early childhood, Inability to walk, Facial diplegia, Athetosis, Hyperk... |
OMIM:612073 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Stiff neck, Genu recurvatum, Tremor, Opisthotonus, Cho... |
ORPHA:79139 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Tremor, Inability... |
OMIM:218000 |
Gerstmann-Straussler-Scheinker Syndrome |
|
Dysesthesia, Abnormal cerebellum morphology, Gait ataxia, Abnormality of extrapyramidal motor fun... |
ORPHA:356 |
Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Ataxia, Myoclonus |
OMIM:254800 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Joint dislocation, Osteopenia, Multiple joint contractures, Lymphedema, Generalized joint laxity,... |
ORPHA:536471 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Accelerated skeletal maturation, Congenital adrenal hyperplasia, Decreased circulating aldosteron... |
OMIM:202010 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Pulmonary edema, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, C... |
OMIM:105210 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis, Car... |
OMIM:617710 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Recurrent fractures, Cryptorchidism, Joint hyperflexibility, Decreased calvarial ossification, Ap... |
ORPHA:2772 |
Amyotrophic Lateral Sclerosis 1 |
|
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasci... |
OMIM:105400 |
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema |
|
Hepatomegaly, Reticulocytosis, Increased circulating ferritin concentration, Splenomegaly, Jaundi... |
OMIM:194380 |
Hypocalcemic Vitamin D-Dependent Rickets |
|
Enlargement of the ankles, Wide cranial sutures, Osteomalacia, Enlargement of the wrists, Delayed... |
ORPHA:289157 |
Wilson Disease |
|
Abnormality of the menstrual cycle, Bone pain, Clumsiness, Joint swelling, Arthritis, Difficulty ... |
ORPHA:905 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Osteopenia, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Abnormality of the kne... |
ORPHA:251028 |
Geroderma Osteodysplasticum |
|
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... |
OMIM:231070 |
Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Myoclonus, Gait ataxia |
OMIM:620145 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... |
ORPHA:99965 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Rigidity, Tremor, Progressive extrapyramidal movement disorder, Focal dystonia, C... |
ORPHA:199351 |
Gaucher Disease Type 1 |
|
Osteopenia, Increased bone mineral density, Pericardial effusion, Kyphosis, Osteoarthritis, Delay... |
ORPHA:77259 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Decreased hemoglobin concentration, Hemolytic anemia, Circulating nucleated red blood cells, Reti... |
OMIM:613673 |
Osteogenesis Imperfecta, Type Ii |
|
Nonimmune hydrops fetalis, Recurrent fractures, Multiple prenatal fractures, Congestive heart fai... |
OMIM:166210 |
Mycetoma |
|
Abnormality of the knee, Osteomyelitis, Osteoporosis, Paraplegia, Abnormal form of the vertebral ... |
ORPHA:2583 |
Bruck Syndrome |
|
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Platyspondyly, Scoliosis, Wormian b... |
ORPHA:2771 |
Poliomyelitis |
|
Stiff neck, Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, ... |
ORPHA:2912 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Dystonia, Short stepped shuffling gait |
OMIM:168605 |
Infantile Spasms Syndrome |
|
Myoclonus |
ORPHA:3451 |
Spontaneous Periodic Hypothermia |
|
Tremor, Arrhythmia, Ataxia, Gait disturbance |
ORPHA:29822 |
Pseudo-Torch Syndrome 3 |
|
Cardiomegaly, Increased circulating ferritin concentration, Leukocytosis, Lymphadenitis, Congenit... |
OMIM:618886 |
Mucopolysaccharidosis, Type Iiib |
|
Hepatomegaly, Hyperactivity, Progressive neurologic deterioration, Cardiomegaly, Aggressive behav... |
OMIM:252920 |
48,Xxyy Syndrome |
|
Hypergonadotropic hypogonadism, Ataxia, Tremor, Cryptorchidism, Elbow dislocation, Azoospermia, R... |
ORPHA:10 |
Behavioral Variant Of Frontotemporal Dementia |
|
Inappropriate behavior, Gait disturbance, Abnormality of extrapyramidal motor function, Fascicula... |
ORPHA:275864 |
Mitochondrial Complex I Deficiency, Nuclear Type 31 |
|
Myoclonus, Dysmetria |
OMIM:618251 |
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Scoliosis, Joint hypermobility |
OMIM:147060 |
Convulsive Disorder, Familial, With Prenatal Or Early Onset |
|
Myoclonus |
OMIM:217200 |
Parkinsonian-Pyramidal Syndrome |
|
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Myoclonus, Abnormal... |
ORPHA:171695 |
Episodic Ataxia, Type 5 |
|
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia |
OMIM:613855 |
Adenylosuccinase Deficiency |
|
Cerebellar atrophy, Prominent metopic ridge, Inability to walk, Opisthotonus, Gait ataxia, Myoclo... |
OMIM:103050 |
Secondary Intestinal Lymphangiectasia |
|
Lymphopenia, Reduced circulating transferrin concentration, Chylous ascites, Hypoalbuminemia, Cir... |
ORPHA:90363 |
Osteogenesis Imperfecta |
|
Osteopenia, Cervical kyphosis, Osteoarthritis, Flexion contracture, Bone pain, Abnormal form of t... |
ORPHA:666 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Elevated circulating C-reactive protein concentration, Lymphadenopath... |
OMIM:619644 |
Urban-Rogers-Meyer Syndrome |
|
Camptodactyly of finger, Recurrent fractures, Cryptorchidism, Kyphosis, Osteoporosis, Hypogonadis... |
ORPHA:3409 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Cerebral palsy, Parkinsonism, Oculogyric crisis, Tremor, Hypertonia |
ORPHA:1578 |
Ornithine Transcarbamylase Deficiency |
|
Splenomegaly, Hyperammonemia |
ORPHA:664 |
Lennox-Gastaut Syndrome |
|
Falls, Myoclonus |
ORPHA:2382 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Cardiomegaly, Increased circulating ferritin concentration, Splenomegaly, Cardiomyo... |
OMIM:235200 |
Immunodeficiency 100 With Pulmonary Alveolar Proteinosis And Hypogammaglobulinemia |
|
Splenomegaly, Leukocytosis, Intraalveolar phospholipid accumulation |
OMIM:618042 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Congenital hip dislocation, Ataxia, Polyhydramnios, Fractures of the long bon... |
ORPHA:496641 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Fasciculations |
OMIM:616437 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent... |
OMIM:201810 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Tremor, Enlargement of the wrists, Babinski sign, Spastic paraplegia, Reduced bone mineral densit... |
ORPHA:83629 |
Pontocerebellar Hypoplasia, Type 2E |
|
Cerebellar atrophy, Flexion contracture, Optic atrophy, Spastic tetraplegia, Osteoporosis, Opisth... |
OMIM:615851 |
Omenn Syndrome |
|
Hepatomegaly, Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Lymphadenop... |
OMIM:603554 |
Thyrocerebroretinal Syndrome |
|
Slurred speech, Ataxia, Myoclonus, Goiter |
OMIM:274240 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type |
|
Hypertonia, Gait disturbance, Hyperkinetic movements |
OMIM:236270 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis, Spasticity, Fasciculations |
OMIM:614808 |
Alg12-Cdg |
|
Hyponatremia, Muscular ventricular septal defect, Biventricular hypertrophy, B lymphocytopenia, H... |
ORPHA:79324 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Fasciculations |
OMIM:619141 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Osteopenia, Congenital hip dislocation, Multiple prenatal fractures, Flexion contracture, Degener... |
OMIM:271225 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Knee flexion contracture, Telangiectasi... |
OMIM:608799 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Joint stiffness, Avascular necrosis of the capital femoral epiphysis,... |
ORPHA:581 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 12 |
|
Hypoalbuminemia, Elevated circulating creatine kinase concentration |
OMIM:619055 |
Dysosteosclerosis |
|
Osteopenia, Sclerosis of hand bone, Delayed closure of the anterior fontanelle, Sclerotic scapula... |
OMIM:224300 |
Alzheimer Disease 3 |
|
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai... |
OMIM:607822 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Impaired vibration sensation in the lower limbs, Clumsiness, Facial diplegia, Cardiomyopathy, Ste... |
ORPHA:521411 |
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type |
|
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Avascu... |
ORPHA:93315 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Gait ataxia |
OMIM:615651 |
Osteopetrosis, Autosomal Recessive 1 |
|
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Facial pa... |
OMIM:259700 |
Immunodeficiency 82 With Systemic Inflammation |
|
Decreased proportion of naive T cells, Elevated circulating C-reactive protein concentration, Fol... |
OMIM:619381 |
Nystagmus, Myoclonic |
|
Myoclonus |
OMIM:310800 |
Young-Onset Parkinson Disease |
|
Female sexual dysfunction, Tremor, Rigidity, Bradykinesia, Male sexual dysfunction, Abnormal auto... |
ORPHA:2828 |
Foix-Alajouanine Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Dysesthesia, Mye... |
ORPHA:79093 |
Grange Syndrome |
|
Aortic regurgitation, Hypertension, Increased susceptibility to fractures |
ORPHA:79094 |
Osteopetrosis, Autosomal Recessive 4 |
|
Optic disc pallor, Increased bone mineral density, Facial palsy, Recurrent fractures, Optic atrop... |
OMIM:611490 |
Pontocerebellar Hypoplasia, Type 7 |
|
Ataxia, Hypoplasia of the pons, Cryptorchidism, Spastic paraplegia, Optic atrophy, Opisthotonus, ... |
OMIM:614969 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Recurrent fractures, Polyhydramnios, Limitation of joint mobility, Abnormality of the elbow, Abno... |
ORPHA:1486 |
Hypophosphatemic Rickets With Hypercalciuria, Hereditary |
|
Enlargement of the ankles, Recurrent fractures, Decreased circulating parathyroid hormone level, ... |
OMIM:241530 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Osteopenia, Bone pain, Myoclonus, Intention tremor |
OMIM:610539 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Congestiv... |
ORPHA:354 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1A |
|
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... |
OMIM:264700 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Left ventricular hypertrophy, Left a... |
ORPHA:57777 |
Vitamin D-Dependent Rickets, Type 2A |
|
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... |
OMIM:277440 |
Gnathodiaphyseal Dysplasia |
|
Osteopenia, Osteomyelitis, Diaphyseal cortical sclerosis, Increased susceptibility to fractures |
OMIM:166260 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, T... |
OMIM:255120 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Craniopharyngioma |
|
Papilledema, Enlarged pituitary gland, Hypogonadotropic hypogonadism, Neoplasm of the anterior pi... |
ORPHA:54595 |
Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Torticollis, Diabetes mellitus, Ataxia, Parkinsonism, Involu... |
ORPHA:48818 |
Segmental Outgrowth-Lipomatosis-Arteriovenous Malformation-Epidermal Nevus Syndrome |
|
Recurrent fractures, Hemiplegia/hemiparesis, Congestive heart failure, Ovarian neoplasm, Reduced ... |
ORPHA:137608 |
Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor |
OMIM:619790 |
Insulin-Resistance Syndrome Type B |
|
Enlarged ovaries, Abnormal circulating fatty-acid concentration, Enlarged polycystic ovaries, Bil... |
ORPHA:2298 |
Episodic Ataxia Type 7 |
|
Episodic ataxia, Hyperkinetic movements |
ORPHA:209970 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... |
ORPHA:204 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Premature ovarian insufficiency, Hypergonadotropic hypogonadism, Parkinsonism, Im... |
OMIM:157640 |
Posttransplant Acute Limbic Encephalitis |
|
Dystonia, Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
ORPHA:163921 |
Congenital Insensitivity To Pain With Severe Intellectual Disability |
|
Pain insensitivity, Osteomyelitis, Recurrent fractures, Impaired tactile sensation, Congenital bi... |
ORPHA:453510 |
Osteopetrosis, Autosomal Recessive 2 |
|
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Cranial nerve compression, Optic at... |
OMIM:259710 |
Oncogenic Osteomalacia |
|
Bone pain, Increased susceptibility to fractures, Gait disturbance, Pathologic fracture, Abnormal... |
ORPHA:352540 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Delayed skeletal maturation, Cryptorchidism, Abnormal posturing, Pulmonary arterial hypertension |
OMIM:614857 |
Spinal Arteriovenous Metameric Syndrome |
|
Kyphoscoliosis, Paraparesis, Abnormal spinal cord morphology, Congestive heart failure, Bone pain... |
ORPHA:53721 |
Mccune-Albright Syndrome |
|
Accelerated skeletal maturation, Bone pain, Hyperthyroidism, Osteomalacia, Precocious puberty, Ov... |
ORPHA:562 |
Vitamin D Hydroxylation-Deficient Rickets, Type 1B |
|
Enlargement of the ankles, Recurrent fractures, Enlargement of the wrists, Delayed epiphyseal oss... |
OMIM:600081 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Multiple prenatal fractures, Arthrogryposis multiplex congenita, Flexion contracture, Polyhydramnios |
OMIM:616867 |
Attrv122I Amyloidosis |
|
Increased circulating NT-proBNP concentration, Cardiomegaly, Cardiac amyloidosis, Hypertrophic ca... |
ORPHA:85451 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia |
OMIM:607682 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Edema, Tremor, Gait ataxia, Hypertonia, Hypothyroidism, Hyperthyroidism, Ataxia, Facial palsy, Di... |
ORPHA:254892 |
Abeta Amyloidosis, Iowa Type |
|
Gait disturbance, Myoclonus, Cerebral hemorrhage |
ORPHA:324708 |
Fibrous Dysplasia Of Bone |
|
Hyperthyroidism, Antalgic gait, Precocious puberty in females, Elevated circulating growth hormon... |
ORPHA:249 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Polyhydramnios, Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-dis... |
ORPHA:500144 |
Dysplasia Epiphysealis Hemimelica |
|
Recurrent fractures, Tarsal synostosis, Joint stiffness, Accelerated skeletal maturation, Osteoar... |
ORPHA:1822 |
Fish-Eye Disease |
|
Splenomegaly, Decreased HDL cholesterol concentration, Lymphadenopathy, Hepatomegaly |
ORPHA:79292 |
Neuraminidase Deficiency |
|
Facial edema, Slurred speech, Hydrops fetalis, Dysmetria, Cardiomyopathy, Epiphyseal stippling, M... |
OMIM:256550 |
Osteogenesis Imperfecta, Type Xii |
|
Hyperextensibility of the finger joints, Recurrent fractures, Osteoporosis, Scoliosis, Wormian bo... |
OMIM:613849 |
Cole-Carpenter Syndrome 2 |
|
Osteopenia, Wide cranial sutures, Recurrent fractures, Kyphosis, Platyspondyly, Lambdoidal cranio... |
OMIM:616294 |
Parasomnia, Sleep Bruxism Type |
|
Myoclonus |
OMIM:606840 |
Secondary Syringomyelia |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Paraplegia, Sens... |
ORPHA:99857 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Limitation of movement at ankles, Broad-based gait, Ataxia, Tremor, Gait imbalance, Inappropriate... |
ORPHA:98794 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Broad-based gait, Pain insensitivity, Ataxia, Osteomyelitis leading to amputation due to slow hea... |
OMIM:256810 |
Progressive Supranuclear Palsy |
|
Rigidity, Tremor, Unsteady gait, Bradykinesia, Blepharospasm, Falls, Dystonia |
ORPHA:683 |
Achondrogenesis Type 1A |
|
Recurrent fractures, Hydrops fetalis, Polyhydramnios, Abnormal enchondral ossification |
ORPHA:93299 |
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome |
|
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Recurrent ... |
ORPHA:2235 |
Xfe Progeroid Syndrome |
|
Ascites, Hypoalbuminemia |
OMIM:610965 |
Nipah Virus Disease |
|
Tremor, Myoclonus |
ORPHA:99825 |
Herpes Simplex Virus Encephalitis |
|
Hyponatremia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, ... |
ORPHA:1930 |
Dysosteosclerosis |
|
Increased bone mineral density, Recurrent fractures, Optic atrophy, Hypoplastic vertebral bodies,... |
ORPHA:1782 |
Mucolipidosis Ii Alpha/Beta |
|
Osteopenia, Thoracolumbar kyphoscoliosis, Flat acetabular roof, Lower thoracic interpediculate na... |
OMIM:252500 |
Gaucher Disease |
|
Joint dislocation, Osteopenia, Increased bone mineral density, Osteomyelitis, Ataxia, Recurrent f... |
ORPHA:355 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Abnormal form of the vertebr... |
ORPHA:475 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Abnormal pyramidal sign, Spasticity, Opisthotonus, Choreoathetosis, Cardiomyo... |
ORPHA:445038 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal dentate nucleus morphology, Multiple joint contractures, Ataxia, Inv... |
ORPHA:506 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Rigidity, Tremor, Babinski sign, Bradykinesia, Impotence |
OMIM:146500 |
Pontocerebellar Hypoplasia, Type 1D |
|
Cerebellar atrophy, Multiple joint contractures, Flexion contracture, Tongue fasciculations, Fasc... |
OMIM:618065 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus |
OMIM:604827 |
Sneddon Syndrome |
|
Facial palsy, Cerebral hemorrhage, Tremor, Hypertension, Ischemic stroke, Impaired distal tactile... |
OMIM:182410 |
Geroderma Osteodysplastica |
|
Recurrent fractures, Vertebral compression fracture, Hip dislocation, Abnormal form of the verteb... |
ORPHA:2078 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Cerebral hemorrhage, Tremor, Congestive heart failure, Cranial ne... |
ORPHA:94080 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Kyphoscoliosis, Tremor, Inability to walk, Vocal... |
ORPHA:99956 |
Cryptogenic Organizing Pneumonia |
|
Leukocytosis, Neutrophilia, Elevated circulating C-reactive protein concentration, Anorexia |
ORPHA:1302 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Congestive heart failure, Flexion contracture, H... |
ORPHA:682 |
Overhydrated Hereditary Stomatocytosis |
|
Hepatomegaly, Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Stomatocytosis, Increase... |
OMIM:185000 |
Osteopenia-Intellectual Disability-Sparse Hair Syndrome |
|
Osteopenia, Joint hyperflexibility, Delayed skeletal maturation, Recurrent fractures |
ORPHA:2324 |
Osteogenesis Imperfecta, Type Iv |
|
Recurrent fractures, Biconcave flattened vertebrae, Kyphosis, Increased susceptibility to fractur... |
OMIM:166220 |
Hemimegalencephaly |
|
Hemiparesis, Optic atrophy, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Hepatomegaly, Abnormal neutrophil count, Splenomegaly, Leukocytosis, Lymphadenopathy, Acute leuke... |
ORPHA:3226 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Nonimmune hydrops fetalis, Left ventricular noncompaction cardiomyopathy, Cardiac arrest, Nephrog... |
OMIM:620167 |
Ddost-Cdg |
|
Tremor, Oromotor apraxia, Generalized hypotonia |
ORPHA:300536 |
Osteogenesis Imperfecta, Type Xiii |
|
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Reduced bone m... |
OMIM:614856 |
Developmental And Epileptic Encephalopathy 23 |
|
Hypoplasia of the pons, Myoclonus, Supravalvular aortic stenosis |
OMIM:615859 |
Alexander Disease |
|
Osteopenia, Diabetes mellitus, Ataxia, Facial palsy, Clonus, Hyperlordosis, Tremor, Precocious pu... |
ORPHA:58 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type |
|
Cerebellar atrophy, Ataxia, Loss of ability to walk in first decade, Flexion contracture, Hyperki... |
OMIM:300243 |
Aregenerative Anemia |
|
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Depression, Emotional lab... |
ORPHA:101096 |
Phosphoserine Aminotransferase Deficiency |
|
Cerebellar vermis hypoplasia, Hypertonia, Myoclonus |
OMIM:610992 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Eosinophilia, Left atrial enlargement, Cardiomega... |
ORPHA:75565 |
Juvenile Polyposis Of Infancy |
|
Refractory anemia, Abnormal heart morphology, Hypoalbuminemia, Atrial septal defect, Anemia |
ORPHA:79076 |
Tetanus |
|
Tachycardia, Stiff neck, Tremor, Rigidity, Opisthotonus, Hypertension, Hypertonia, Abnormal auton... |
ORPHA:3299 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Pain insensitivity, Recurrent fractures, Craniosynostosis, Hypertension, Myoclonus, Delayed puberty |
ORPHA:251004 |
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia |
|
Nodular goiter, Papillary thyroid carcinoma, Recurrent fractures, Goiter |
ORPHA:97290 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Flexion contracture, Optic atrophy, Cerebellar hypoplasia, Myoclonu... |
OMIM:607196 |
Osteogenesis Imperfecta, Type Xvii |
|
Joint laxity, Recurrent fractures, Kyphoscoliosis, Intraventricular hemorrhage, Hip dislocation, ... |
OMIM:616507 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Spasticity, Ataxia, Myoclonus |
OMIM:618225 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Osteopenia, Multiple joint contractures, Multiple joint dislocation, Large joint dislocations, Os... |
ORPHA:536467 |
Peho Syndrome |
|
Cerebellar atrophy, Edema of the dorsum of feet, Edema, Edema of the dorsum of hands, Optic atrop... |
OMIM:260565 |
Hereditary Hypophosphatemic Rickets With Hypercalciuria |
|
Waddling gait, Increased circulating osteocalcin level, Osteomalacia, Decreased circulating parat... |
ORPHA:157215 |
Idiopathic Steroid-Sensitive Nephrotic Syndrome With Secondary Steroid Resistance |
|
Hyperlipidemia, Ascites, Hypoalbuminemia |
ORPHA:567546 |
Relapsing Fever |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Thrombocytopenia, Leukocytos... |
ORPHA:91547 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Ataxia, Hypergonadotropic hypogonadism, Tremor, Hypertrophic cardiomyopathy, ... |
OMIM:607426 |
Isaacs Syndrome |
|
Fasciculations, Distal sensory impairment |
ORPHA:84142 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Myelopathy, Cervical myelopathy, Tetrapa... |
OMIM:617186 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Spastic paraparesis, Palatal tremor, Truncal ataxia |
OMIM:113610 |
Typhoid |
|
Gastrointestinal hemorrhage, Ataxia, Epistaxis, Cardiac arrest, Tremor, Hypertonia, Arrhythmia |
ORPHA:99745 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Impaired vibratory sensation, Impaired distal proprioception, Dilated cardiomyopathy, Abnormal ce... |
ORPHA:70595 |
Juvenile Sialidosis Type 2 |
|
Lower limb spasticity, Ataxia, Optic atrophy, Dysmetria, Abnormal form of the vertebral bodies, M... |
ORPHA:93399 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Kyphoscoliosis, Recurrent fractures, Inability to walk, Cryptorchidism, Un... |
ORPHA:3063 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Scoliosis,... |
ORPHA:220497 |
Brittle Cornea Syndrome |
|
Osteoporosis, Increased susceptibility to fractures, Joint hyperflexibility, Gait disturbance, Pu... |
ORPHA:90354 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormal EKG, Incoordination, Ataxia, Abnormal medulla oblongata mo... |
OMIM:601992 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Optic disc pallor, Tricuspid regurgitation, Ataxia, Dilated cardiomyopathy, Mitral regurgitation,... |
OMIM:619167 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog... |
ORPHA:297 |
Leukodystrophy, Hypomyelinating, 10 |
|
Inability to walk, Spasticity, Babinski sign, Hyperkinetic movements |
OMIM:616420 |
Rheumatic Fever |
|
Pericarditis, Epistaxis, Myocarditis, Chorea, Arthritis, Gait disturbance, Hemiballismus, Fascicu... |
ORPHA:3099 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Tremor |
OMIM:605355 |
Familial Expansile Osteolysis |
|
Pathologic fracture, Bone pain, Osteolysis |
OMIM:174810 |
Anemia, Congenital Dyserythropoietic, Type Ia |
|
Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Anemia of inadequate production, S... |
OMIM:224120 |
Osteopetrosis, Autosomal Recessive 9 |
|
Papilledema, Hyperparathyroidism, Increased bone mineral density, Cortical sclerosis, Osteopetros... |
OMIM:620366 |
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia |
|
Wormian bones, Pathologic fracture, Limitation of joint mobility |
ORPHA:166277 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Appendicular spasticity, Hypoplasia of the pons, Optic atrophy, Myoclonus, Cerebellar hypoplasia,... |
OMIM:617669 |
Paget Disease Of Bone 6 |
|
Osteoarthritis, Bone pain, Recurrent fractures |
OMIM:616833 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Ataxia, Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Abnormality of extrap... |
OMIM:614299 |
Scorpion Envenomation |
|
Bundle branch block, Edema, Tremor, Prominent U wave, Priapism, Hemifacial spasm, Ataxia, Myoclon... |
ORPHA:466677 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Gait disturbance, Scoliosis,... |
ORPHA:220493 |
Pituitary Carcinoma |
|
Enlarged pituitary gland, Abnormal central motor function, Ataxia, Elevated circulating growth ho... |
ORPHA:300385 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Joint laxity, Pain insensitivity, Cerebellar vermis hypoplasia, Genu recurvatum, Cryptorchidism, ... |
ORPHA:364028 |
Majeed Syndrome |
|
Increased bone mineral density, Osteomyelitis, Edema, Flexion contracture, Bone pain, Synovitis, ... |
ORPHA:77297 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Elevated circulating creatine kinase concentration, Cardiomegaly, Hyperammonemia, H... |
OMIM:201475 |
Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
Multifocal Motor Neuropathy |
|
Motor conduction block, Limited wrist extension, Fasciculations |
ORPHA:641 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 1 |
|
Recurrent joint dislocation, Recurrent fractures, Arterial rupture, Reduced bone mineral density,... |
OMIM:619115 |
Severe Congenital Nemaline Myopathy |
|
Facial palsy, Polyhydramnios, Edema of the dorsum of hands, Multiple prenatal fractures, Flexion ... |
ORPHA:171430 |
Classic Phenylketonuria |
|
Tremor, Hypertonia, Hemiplegia, Paraplegia |
ORPHA:79254 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Flexion contracture, Ataxia, Scoliosis |
OMIM:278760 |
Insulinoma |
|
Tremor, Abnormality of the pancreatic islet cells, Fasting hyperinsulinemia, Primary hyperparathy... |
ORPHA:97279 |
Nestor-Guillermo Progeria Syndrome |
|
Wide cranial sutures, Delayed closure of the anterior fontanelle, Decreased serum leptin, Limited... |
OMIM:614008 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Tremor, Cryptorchidism, Hypotonia, Hypertonia, Generalized hypotonia |
OMIM:608093 |
Greenberg Dysplasia |
|
Polyhydramnios, Multiple prenatal fractures, Patchy variation in bone mineral density, Hydrops fe... |
OMIM:215140 |
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type) |
|
Cerebellar atrophy, Involuntary movements, Abnormal pyramidal sign, Dysmetria, Myoclonus |
OMIM:619780 |
Fabry Disease |
|
Angina pectoris, Transient ischemic attack, Myocardial infarction, Lymphedema, Congestive heart f... |
OMIM:301500 |
Choreoacanthocytosis |
|
Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude of... |
ORPHA:2388 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Rigidity, Optic atrophy, Myoclonus |
OMIM:619057 |
Keppen-Lubinsky Syndrome |
|
Polyhydramnios, Spastic tetraparesis, Flexion contracture, Opisthotonus, Increased susceptibility... |
ORPHA:435628 |
Psoriasis 14, Pustular |
|
Leukocytosis, Neutrophilia, Cholangitis, Elevated circulating C-reactive protein concentration |
OMIM:614204 |
Brain-Lung-Thyroid Syndrome |
|
Thyroid dysgenesis, Hypoparathyroidism, Thyroid hemiagenesis, Dystonia, Ataxia, Incoordination, I... |
ORPHA:209905 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Polyhydramnios, Cryptorchidism, Babinski sign, Spastic tetraplegia, Opist... |
OMIM:619847 |
Developmental And Epileptic Encephalopathy 89 |
|
Cerebellar atrophy, Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Scolio... |
OMIM:619124 |
Sitosterolemia 1 |
|
Reticulocytosis, Hyperapobetalipoproteinemia, Elevated circulating sitosterol concentration, Thro... |
OMIM:210250 |
Wolfram Syndrome 1 |
|
Diabetes mellitus, Ataxia, Diabetes insipidus, Tremor, Optic atrophy, Cardiomyopathy, Hypothyroid... |
OMIM:222300 |
Classic Homocystinuria |
|
Gastrointestinal hemorrhage, Recurrent fractures, Pulmonary embolism, Joint stiffness, Hemiplegia... |
ORPHA:394 |
Staphylococcal Necrotizing Pneumonia |
|
Neutrophilia, Confusion, Elevated circulating C-reactive protein concentration, Leukocytosis, Leu... |
ORPHA:36238 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Cerebellar vermis hypoplasia, Limb joint contracture, Spastic tetraparesis, Ankle flexion contrac... |
ORPHA:284417 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Spinal cord compression, Bone pain, Horner syndrome, Hypertension, Myoclonus |
OMIM:256700 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Blepharospasm, Hyperkinetic movements, Limb dystonia, Lingual ... |
ORPHA:93958 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Joint laxity, Lumbar hyperlordosis, Ataxia, Progressive flexion contractures, Chorea, Choreoathet... |
ORPHA:522077 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Decreased hip abduction, Large sternal ossification centers, Optic nerve hypo... |
OMIM:602535 |
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections |
|
Joint hypermobility, Scoliosis, Increased susceptibility to fractures |
OMIM:619752 |
Juvenile Paget Disease |
|
Hypertension, Optic atrophy, Recurrent fractures, Osteoporosis |
ORPHA:2801 |
Felty Syndrome |
|
Splenomegaly, Neutropenia |
OMIM:134750 |
Tsh-Secreting Pituitary Adenoma |
|
Osteopenia, Tremor, Elevated circulating thyroid-stimulating hormone concentration, Male hypogona... |
ORPHA:91347 |
Galloway-Mowat Syndrome 3 |
|
Hypoalbuminemia |
OMIM:617729 |
Angelman Syndrome |
|
Optic disc pallor, Broad-based gait, Ataxia, Precocious puberty in females, Tremor, Inability to ... |
ORPHA:72 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Pericarditis, Ataxia, Myocardial infarction, Myocarditis, Abnormal p... |
ORPHA:3452 |
Gaucher Disease, Type I |
|
Epistaxis, Bone pain, Hypertension, Mitral regurgitation, Aortic valve stenosis, Pulmonary arteri... |
OMIM:230800 |
49,Xxxxy Syndrome |
|
Shyness, Tremor, Cryptorchidism, Elbow dislocation, Pulmonary embolism, Hip dislocation, Azoosper... |
ORPHA:96264 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ataxia, Osteoporosis, Rickets, Dehydration, Myoclonus, Type I diabetes mellitus |
OMIM:560000 |
Lethal Congenital Contracture Syndrome 1 |
|
Edema, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryposis multiplex congenita... |
OMIM:253310 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,... |
OMIM:615349 |
Acute Disseminated Encephalomyelitis |
|
Somatic sensory dysfunction, Ataxia, Involuntary movements, Abnormal cerebellum morphology, Abnor... |
ORPHA:83597 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Ataxia, Polyhydramnios, Trem... |
OMIM:300998 |
48,Xxxy Syndrome |
|
Pulmonary embolism, Tremor, Cryptorchidism, Elbow dislocation, Hip dislocation, Azoospermia, Radi... |
ORPHA:96263 |
Congenital Disorder Of Glycosylation, Type Iic |
|
Neutrophilia, Compulsive behaviors, Reduction of neutrophil motility |
OMIM:266265 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Spherocytosis, Type 5 |
|
Hemolytic anemia, Reticulocytosis, Splenomegaly, Jaundice, Spherocytosis, Abnormal platelet count... |
OMIM:612690 |
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Hypoplasia of the pons, Inability to walk, Myoclonus |
ORPHA:411986 |
Neurodevelopmental Disorder With Spasticity And Poor Growth |
|
Generalized dystonia, Ataxia, Clonus, Achilles tendon contracture, Babinski sign, Opisthotonus, K... |
OMIM:618076 |
Metaphyseal Chondrodysplasia, Jansen Type |
|
Waddling gait, Hip contracture, Hypoparathyroidism, Osteopenia, Knee flexion contracture, Patholo... |
OMIM:156400 |
Hereditary Elliptocytosis |
|
Hemolytic anemia, Reticulocytosis, Abnormal erythrocyte morphology, Splenomegaly, Jaundice, Stoma... |
ORPHA:288 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Cerebral palsy, Chorea, Heart murmur, Myoclonus, Pulmonic stenosis, Scoliosis |
OMIM:617600 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Hepatomegaly, Neutrophilia, Abscess, Elevated circulating C-reactive protein concentration, Splen... |
OMIM:612852 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Pancytopenia, Portal hypertension, Cholestasis, Hypoalbuminemia, Hypocalcemia, Unconjugated hyper... |
OMIM:613658 |
Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Myoclonus, Eyelid myoclonus |
OMIM:618357 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Hypoalbuminemia, Anemia |
ORPHA:79396 |
Unilateral Polymicrogyria |
|
Involuntary movements, Epistaxis, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination,... |
ORPHA:268943 |
Smith-Lemli-Opitz Syndrome |
|
Hepatomegaly, Hyperactivity, Ventricular septal defect, Aggressive behavior, Splenomegaly, Choles... |
OMIM:270400 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Unsteady gait, Gait disturbance, Myoclonus, Oromandibul... |
ORPHA:412217 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavior |
ORPHA:1020 |
Adamantinoma |
|
Pathologic fracture, Bone pain |
ORPHA:55881 |
Congenital Sialidosis Type 2 |
|
Abnormal EKG, Ataxia, Edema, Optic atrophy, Dysmetria, Telangiectasia, Myoclonus, Spasticity, Asc... |
ORPHA:93400 |
Calvarial Doughnut Lesions With Bone Fragility |
|
Osteopenia, Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis |
OMIM:126550 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Spastic paraplegia, Babinski sign, Dysmetria, Spasticity |
OMIM:618527 |
Alkaptonuria |
|
Arthropathy, Vertebral fusion, Kyphosis, Limited shoulder movement, Arthritis, Limited hip moveme... |
OMIM:203500 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Kyphosis, Congestive heart failure, Unsteady gait, Dystonia, Cholelith... |
OMIM:615512 |
Osteogenesis Imperfecta, Type Xxi |
|
Recurrent fractures, Osteoporosis, Platyspondyly, Scoliosis, Wormian bones, Joint hypermobility |
OMIM:619131 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
|
Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Lymphadenopath... |
OMIM:617099 |
Sandifer Syndrome |
|
Hematemesis, Torticollis, Abnormal posturing |
ORPHA:71272 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Broad-based gait, Recurrent fractures, Kyphoscoliosis, C... |
OMIM:309583 |
Aggressive Systemic Mastocytosis |
|
Gastrointestinal hemorrhage, Portal hypertension, Bone pain, Osteoporosis, Osteolysis, Hypotensio... |
ORPHA:98850 |
Keratoderma Hereditarium Mutilans |
|
Abnormal spinal cord morphology, Hypogonadotropic hypogonadism, Osteolysis |
ORPHA:494 |
Stuve-Wiedemann Syndrome 1 |
|
Enlarged joints, Ovoid vertebral bodies, Impaired pain sensation, Elbow flexion contracture, Oste... |
OMIM:601559 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Abnormality of extrapyramidal motor function, Myoclonus, Distal sensory impairment |
OMIM:604218 |
Galloway-Mowat Syndrome 1 |
|
Hypoalbuminemia |
OMIM:251300 |
Schindler Disease, Type I |
|
Osteopenia, Spasticity, Optic atrophy, Myoclonus |
OMIM:609241 |
Stüve-Wiedemann Syndrome |
|
Osteopenia, Camptodactyly of finger, Recurrent fractures, Impaired pain sensation, Flexion contra... |
ORPHA:3206 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Dilated fourth ventricle, Congenital hip dislocation, Optic atrophy, Contractures of the large jo... |
ORPHA:3078 |
Ataxia-Telangiectasia |
|
Conjunctival telangiectasia, Diabetes mellitus, Ataxia, Female hypogonadism, Tremor, Inability to... |
OMIM:208900 |
Cole-Carpenter Syndrome 1 |
|
Osteopenia, Recurrent fractures, Coronal craniosynostosis, Reduced bone mineral density, Scoliosi... |
OMIM:112240 |
Osteogenesis Imperfecta, Type Xviii |
|
Joint laxity, Recurrent fractures, Joint hypermobility, Biconcave vertebral bodies, Wormian bones... |
OMIM:617952 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Osteopenia, Recurrent fractures, Craniosynostosis, Accelerated skeletal maturation, Joint hypermo... |
OMIM:245600 |
Premature Aging Syndrome, Penttinen Type |
|
Recurrent fractures, Hyperextensibility of the knee, Delayed skeletal maturation, Elevated circul... |
OMIM:601812 |
Familial Infantile Myoclonic Epilepsy |
|
Cerebellar atrophy, Ataxia, Clumsiness, Blepharospasm, Gait disturbance, Limb myoclonus |
ORPHA:352582 |
Congenital Disorder Of Glycosylation, Type Iib |
|
Thoracic scoliosis, Optic atrophy, Recurrent fractures, Generalized edema |
OMIM:606056 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Conjugated hyperbilirubinemia, Secundum atrial septal defect, Primum atrial septal defect, Inlet ... |
OMIM:619534 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
|
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Spinal cord compression, Radial head sublux... |
OMIM:271640 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Lower limb spasticity, Ataxia, Foot joint contracture, Tremo... |
ORPHA:90321 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Ataxia, Impaired distal proprioception, Hypoesthesia, Babinski sign, Impaired d... |
OMIM:607459 |
Gaucher Disease, Type Iii |
|
Ataxia, Myoclonus, Spastic paraparesis |
OMIM:231000 |
Atypical Werner Syndrome |
|
Sclerosis of hand bone, Fasting hyperinsulinemia, Reduced bone mineral density, Increased bone mi... |
ORPHA:79474 |
Osteosarcoma |
|
Joint swelling, Pathologic fracture, Osteolysis |
ORPHA:668 |
African Trypanosomiasis |
|
Tremor, Impaired proprioception, Choreoathetosis, Papilledema, Abnormal EKG, Abnormal central mot... |
ORPHA:3385 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Early Myoclonic Encephalopathy |
|
Myoclonus |
ORPHA:1935 |
Congenital Bile Acid Synthesis Defect Type 4 |
|
Ataxia, Tremor, Hematochezia, Hypogonadism, Type II diabetes mellitus, Cholelithiasis |
ORPHA:79095 |
Brody Disease |
|
Somatic sensory dysfunction, Flexion contracture, Fasciculations |
OMIM:601003 |
Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Cardiac arrest, Cryptorchidism, Abnormal autonomic nervous system physiology, Myoclonus, Arrhythmia |
ORPHA:168593 |
Hyperlipoproteinemia, Type I |
|
Splenomegaly, Hyperlipidemia, Jaundice, Hepatosplenomegaly, Lactescent serum, Increased circulati... |
OMIM:238600 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Joint dislocation, Dystonia, Ataxia, Poor motor coordination, Tremor, Rigidity, Chorea, Subdural ... |
ORPHA:25 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Mitral stenosis, Recurrent fractures, Hypoplastic 5th lumbar vertebrae, Kyphosis, Bon... |
ORPHA:955 |
Glycine Encephalopathy 1 |
|
Myoclonus |
OMIM:605899 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hemolytic anemia, Reticulocytosis, Hepatomegaly, Anisocytosis, Cardiomeg... |
OMIM:618278 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Camptodactyly of finger, Tremor, Kyphosis, Joint hyperflexibility, Hypogonadism... |
ORPHA:85293 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function, Myoclonus, Neon... |
OMIM:605711 |
Combined Osteogenesis Imperfecta And Ehlers-Danlos Syndrome 2 |
|
Joint dislocation, Recurrent fractures, Arterial rupture, Joint hypermobility |
OMIM:619120 |
Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical ... |
ORPHA:168491 |
12Q14 Microdeletion Syndrome |
|
Diabetes mellitus, Tremor, Osteopoikilosis, Chiari malformation, Syringomyelia, Scoliosis |
ORPHA:94063 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Tachycardia, Generalized dystonia, Ataxia, Chorea, Dilated cardiomyopathy, Spastic tetraplegia, G... |
OMIM:618321 |
Chromosome 18Q Deletion Syndrome |
|
Joint laxity, Broad-based gait, Decreased response to growth hormone stimulation test, Tremor, Cr... |
OMIM:601808 |
Osteopetrosis, Autosomal Dominant 3 |
|
Osteopenia, Hyperparathyroidism, Recurrent fractures |
OMIM:618107 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Portal hypertension, ... |
ORPHA:1454 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Neoplasm of the gallbladder,... |
ORPHA:512 |
Osteogenesis Imperfecta, Type I |
|
Osteopenia, Recurrent fractures, Biconcave flattened vertebrae, Increased susceptibility to fract... |
OMIM:166200 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Multiple prenatal fractures, Congestive heart failure, Flexion contracture, Cardiomyopathy, Arthr... |
OMIM:616866 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Postural tremor, Ataxia, Limb joint contracture, Babinski sign, Flexion contr... |
OMIM:301072 |
Osteoporosis-Pseudoglioma Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... |
OMIM:259770 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Cerebral hemorrhage, Tremor, Conge... |
ORPHA:276621 |
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Inability to walk, Broad-based gait, Myoclonus |
OMIM:616158 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Chorea, Opisthotonus, Myoclonus, Tetraparesis, Dystonia, Cerebellar hypoplasia |
OMIM:616672 |
Developmental And Epileptic Encephalopathy 54 |
|
Myoclonus |
OMIM:617391 |
Danon Disease |
|
Myocardial necrosis, Elevated circulating creatine kinase concentration, Cardiomegaly, Dilated ca... |
OMIM:300257 |
Developmental And Epileptic Encephalopathy 101 |
|
Limb joint contracture, Opisthotonus, Third degree atrioventricular block, Bradycardia, Myoclonus |
OMIM:619814 |
Mccune-Albright Syndrome |
|
Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth hormone concentration, Precocio... |
OMIM:174800 |
Hypophosphatasia |
|
Recurrent fractures, Craniosynostosis |
ORPHA:436 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Chorea, Osteoporosis, Dysmetria, Athetosis, Hyperkinet... |
OMIM:615273 |
Osteogenesis Imperfecta, Type Xvi |
|
Osteopenia, Recurrent fractures, Platyspondyly, Decreased calvarial ossification, Wormian bones, ... |
OMIM:616229 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Aganglionic megacolon, Ataxia, Supernumerary nipple, Telangiectasia, Gait disturbance, Myoclonus,... |
ORPHA:247262 |
Hyperlipoproteinemia, Type Id |
|
Decreased HDL cholesterol concentration, Hepatomegaly, Hypertriglyceridemia, Splenomegaly, Pancre... |
OMIM:615947 |
Sillence Syndrome |
|
Flat acetabular roof, Platyspondyly, Scoliosis, Camptodactyly, Abnormal vertebral morphology, Int... |
ORPHA:3168 |
Niemann-Pick Disease Type C |
|
Fetal ascites, Tremor, Chorea, Abnormal pyramidal sign, Hydrops fetalis, Progressive gait ataxia,... |
ORPHA:646 |
Multiple Myeloma |
|
Osteopenia, Spinal cord compression, Vertebral compression fracture, Bone pain, Paresthesia, Path... |
ORPHA:29073 |
H Syndrome |
|
Diabetes mellitus, Recurrent fractures, Delayed skeletal maturation, Abnormal cardiovascular syst... |
ORPHA:168569 |
Familial Mediterranean Fever |
|
Hepatomegaly, Pericarditis, Neutrophilia, Elevated circulating C-reactive protein concentration, ... |
OMIM:249100 |
Pyridoxal Phosphate-Responsive Seizures |
|
Unsteady gait, Hypertonia, Myoclonus |
ORPHA:79096 |
Familial Osteodysplasia, Anderson Type |
|
Recurrent fractures, Elbow dislocation, Kyphosis, Abnormal form of the vertebral bodies, Increase... |
ORPHA:2769 |
Autoimmune Hypoparathyroidism |
|
Prolonged QT interval, Increased bone mineral density, Autoimmune hypoparathyroidism, Abnormal le... |
ORPHA:36913 |
Cole-Carpenter Syndrome |
|
Recurrent fractures, Kyphosis, Abnormal form of the vertebral bodies, Joint hyperflexibility, Sco... |
ORPHA:2050 |
Menkes Disease |
|
Gastrointestinal hemorrhage, Osteomyelitis, Tarsal synostosis, Recurrent fractures, Chorea, Osteo... |
ORPHA:565 |
Bone Fragility With Contractures, Arterial Rupture, And Deafness |
|
Osteopenia, Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow flexion co... |
OMIM:612394 |
Brittle Cornea Syndrome 2 |
|
Gait disturbance, Recurrent fractures, Joint hypermobility |
OMIM:614170 |
Osteogenesis Imperfecta, Type Viii |
|
Osteopenia, Joint laxity, Recurrent fractures, Multiple prenatal fractures, Kyphosis, Platyspondy... |
OMIM:610915 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Cardiac conduction abnormality, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal p... |
ORPHA:2131 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Cerebellar atrophy, Optic disc pallor, Prominent metopic ridge, Multiple joint contractures, Opti... |
ORPHA:468631 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decreased nerve conduction... |
ORPHA:206436 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 16 |
|
Cerebellar atrophy, Delayed skeletal maturation, Myoclonus |
OMIM:619060 |
Dermatitis Herpetiformis |
|
Bone pain, Recurrent fractures, Edema |
ORPHA:1656 |
Aneurysm-Osteoarthritis Syndrome |
|
Aortic regurgitation, Joint laxity, Osteoarthritis of the small joints of the hand, Atrial fibril... |
ORPHA:284984 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Ataxia, Tremor, Inability to walk, Upper limb spasticity, Myoclonus, Scoli... |
OMIM:619229 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Tremor, Cryptorchidism, Hypertension, Neonatal death, Arrhythmia, Intention tremor, Hyper... |
OMIM:614052 |
9P13 Microdeletion Syndrome |
|
Joint stiffness, Precocious puberty, Abnormality of cartilage of external ear, Hand tremor, Myocl... |
ORPHA:324313 |
Glycogen Storage Disease Ii |
|
Hepatomegaly, Increased circulating NT-proBNP concentration, Elevated circulating creatine kinase... |
OMIM:232300 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Hepatomegaly, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly... |
ORPHA:98849 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Ataxia, Facial palsy, Stiff neck, Abnormal cerebellum morp... |
ORPHA:68 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Osteopenia, Osteomyelitis, Recurrent fractures, Craniosynostosis, Joint hyperflexibility, Scoliosis |
ORPHA:2314 |
Amyotrophy, Monomelic |
|
Cervical spinal cord atrophy, Fasciculations |
OMIM:602440 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Wolff-Parkinson-White syndrome, Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait,... |
OMIM:614947 |
Neurofibromatosis Type 1 |
|
Ataxia, Recurrent fractures, Joint stiffness, Abnormality of the endocrine system, Cryptorchidism... |
ORPHA:636 |
Myoclonic Epilepsy Of Infancy |
|
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination |
ORPHA:86909 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Hypertonia, Myoclonus |
OMIM:617290 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Ataxia, Short-segment ag... |
OMIM:609136 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Osteopenia, Cerebellar vermis hypoplasia, Ataxia, Tremor, Kyphosis, Spastic d... |
OMIM:300966 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Optic atrophy, A... |
OMIM:234200 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612287 |
Sickle Cell Disease |
|
Hemolytic anemia, Hepatomegaly, Cardiomegaly, Splenomegaly, Jaundice, Leukocytosis, Splenic infar... |
OMIM:603903 |
Melas |
|
Hypoparathyroidism, Wolff-Parkinson-White syndrome, Abnormal central motor function, Ataxia, Hypo... |
ORPHA:550 |
Serotonin Syndrome |
|
Tachycardia, Clonus, Tremor, Rigidity, Hypertension, Hypertonia, Myoclonus, Hypotension, Abnormal... |
ORPHA:43116 |
Dystonia 26, Myoclonic |
|
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia |
OMIM:616398 |
Myopathy, Myofibrillar, 2 |
|
Hypertrophic cardiomyopathy, Fasciculations |
OMIM:608810 |
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1 |
|
Osteopenia, Osteoporosis, Increased susceptibility to fractures |
OMIM:612286 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis |
ORPHA:397744 |
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis |
|
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... |
OMIM:608203 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Cleidocranial Dysplasia 1 |
|
Persistent open anterior fontanelle, Increased bone mineral density, Kyphosis, Hip dislocation, I... |
OMIM:119600 |
Cleidocranial Dysplasia |
|
Recurrent fractures, Osteoporosis, Genu valgum, Decreased skull ossification, Scoliosis, Wormian ... |
ORPHA:1452 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Inability to walk, Vocal cord paralysis, Hyper... |
OMIM:617799 |
Chédiak-Higashi Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Ataxia, Parkinsonism, Edema, Epistaxis, Decrease... |
ORPHA:167 |
Pseudohypoparathyroidism Type 1A |
|
Prolonged QT interval, Increased bone mineral density, Hypergonadotropic hypogonadism, Decreased ... |
ORPHA:79443 |
Antley-Bixler Syndrome |
|
Recurrent fractures, Camptodactyly of finger, Craniosynostosis, Joint stiffness, Elbow ankylosis,... |
ORPHA:83 |
Cog8-Cdg |
|
Cerebellar atrophy, Ataxia, Myoclonus |
ORPHA:95428 |
Dpagt1-Cdg |
|
Prolonged QT interval, Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to wal... |
ORPHA:86309 |
Osteosclerosis With Ichthyosis And Fractures |
|
Increased bone mineral density, Recurrent fractures |
OMIM:166740 |
Schimmelpenning-Feuerstein-Mims Syndrome |
|
Osteopenia, Recurrent fractures, Kyphoscoliosis, Precocious puberty, Hypophosphatemic rickets |
OMIM:163200 |
Hyperoxaluria, Primary, Type I |
|
Increased bone mineral density, Optic neuropathy, Raynaud phenomenon, Arterial occlusion, Optic a... |
OMIM:259900 |
Hamamy Syndrome |
|
Hypoparathyroidism, Osteopenia, Prolonged QRS complex, Recurrent fractures, Craniosynostosis, Cry... |
OMIM:611174 |
Hyperparathyroidism, Transient Neonatal |
|
Osteopenia, Hyperparathyroidism, Wide cranial sutures, Recurrent fractures, Polyhydramnios, Ovari... |
OMIM:618188 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Akinesia, Rigidity, Tremor, Bradykinesia, Falls, Ga... |
OMIM:601104 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Osteopenia, Epistaxis, Irregular menstruation, Thyroiditis, Gout, Polycystic ovaries, Osteoporosi... |
ORPHA:79259 |
Oculocerebrorenal Syndrome Of Lowe |
|
Hyperparathyroidism, Clonus, Dehydration, Osteomalacia, Cryptorchidism, Azoospermia, Joint hyperf... |
ORPHA:534 |
Hajdu-Cheney Syndrome |
|
Osteopenia, Joint laxity, Kyphoscoliosis, Cryptorchidism, Tall lumbar vertebral bodies, Osteoporo... |
OMIM:102500 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Positive regitine blocking test, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, C... |
ORPHA:29072 |
Hypophosphatemic Rickets, X-Linked Recessive |
|
Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ... |
OMIM:300554 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Hypertonia, Myoclonus |
OMIM:618240 |
Fanconi Renotubular Syndrome 2 |
|
Osteopenia, Recurrent fractures, Osteomalacia, Bone pain, Rickets, Elevated circulating parathyro... |
OMIM:613388 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Clonus, Left ventricular noncompaction cardiomyopathy, Tremor, Cardiogenic shock, D... |
OMIM:619424 |
Autosomal Recessive Malignant Osteopetrosis |
|
Recurrent fractures, Craniosynostosis, Tremor, Bone pain, Reduced bone mineral density, Osteopetr... |
ORPHA:667 |
Loeys-Dietz Syndrome 6 |
|
Hip osteoarthritis, Knee osteoarthritis, Scoliosis, Intervertebral disc degeneration |
OMIM:619656 |
Immunodeficiency 23 |
|
Somatic sensory dysfunction, Ataxia, Myoclonus, Scoliosis, Vasculitis in the skin, Joint hypermob... |
OMIM:615816 |
Rothmund-Thomson Syndrome |
|
Osteopenia, Telangiectasia of the skin, Aplasia/Hypoplasia of the patella, Facial edema, Reduced ... |
ORPHA:2909 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Babinski sign, Fasciculations |
OMIM:619733 |
Developmental And Epileptic Encephalopathy 31B |
|
Appendicular spasticity, Clonus, Involuntary movements, Optic atrophy, Opisthotonus, Myoclonus |
OMIM:620352 |
Fatal Familial Insomnia |
|
Ataxia, Abnormal autonomic nervous system physiology, Myoclonus |
OMIM:600072 |
Sialuria |
|
Cholelithiasis, Hyperkinetic movements, Joint hypermobility |
ORPHA:3166 |
Ethylene Glycol Poisoning |
|
Prolonged QT interval, Shock, Tachycardia, Atrial fibrillation, Ataxia, Facial palsy, Congestive ... |
ORPHA:31826 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Unsteady gait, Flexion contracture, Choreoathetosis, Hypertonia, Hyperkinetic movements, Myoclonu... |
ORPHA:17 |
D-Glyceric Aciduria |
|
Optic nerve hypoplasia, Spastic tetraplegia, Opisthotonus, Myoclonus, Bradycardia, Spasticity |
OMIM:220120 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia |
OMIM:613179 |
Sapho Syndrome |
|
Osteomyelitis, Recurrent fractures, Edema, Abnormal sacroiliac joint morphology, Vasculitis, Cran... |
ORPHA:793 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Osteopenia, Increased bone mineral density, Recurrent fractures, Kyphosis, Ankylosis, Osteoporosis |
OMIM:239000 |
Distal Renal Tubular Acidosis |
|
Osteomalacia, Paralysis, Bone pain, Rickets, Dehydration, Reduced bone mineral density, Increased... |
ORPHA:18 |
Osteofibrous Dysplasia, Susceptibility To |
|
Pathologic fracture |
OMIM:607278 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Tracheomalacia, Paralysis, Osteoporosis, Hypertonia, Bile duct prolif... |
OMIM:203700 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Parkinsonism, Oculogyric crisis, Rigidity, Babinski sign, Abnormal pyramidal sign... |
ORPHA:306674 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Recurrent fractures, Kyphosis, Hip dislocation, Scoliosis, Tr... |
ORPHA:140 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Osteogenesis Imperfecta, Type Xx |
|
Wormian bones, Vertebral compression fracture, Multiple prenatal fractures, Kyphoscoliosis |
OMIM:618644 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Craniosynostosis, Tremor, Spastic... |
ORPHA:2203 |
Pseudohypoparathyroidism Type 2 |
|
Prolonged QT interval, Pseudohypoparathyroidism, Elevated circulating parathyroid hormone level, ... |
ORPHA:94090 |
Exudative Vitreoretinopathy 1 |
|
Vitreous hemorrhage, Recurrent fractures, Retinal neovascularization |
OMIM:133780 |
Dent Disease 1 |
|
Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ... |
OMIM:300009 |
Osteoglophonic Dysplasia |
|
Osteopenia, Camptodactyly of finger, Craniosynostosis, Cryptorchidism, Increased susceptibility t... |
OMIM:166250 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Osteopenia, Diaphyseal cortical sclerosis, Patchy osteosclerosis, Fractures of the long bones, Os... |
OMIM:112250 |
Benign Samaritan Congenital Myopathy |
|
Fasciculations |
ORPHA:324581 |
Sweet Syndrome |
|
Acute myeloid leukemia, Neutrophilia, Elevated circulating C-reactive protein concentration, Leuk... |
ORPHA:3243 |
D-Glyceric Aciduria |
|
Chorea, Myoclonus, Spasticity |
ORPHA:941 |
Autosomal Recessive Cutis Laxa Type 1 |
|
Joint laxity, Abnormal cardiac ventricular function, Congestive heart failure, Hip dislocation, J... |
ORPHA:90349 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Hip contracture, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... |
OMIM:216400 |
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction |
|
Optic disc pallor, Optic atrophy, Recurrent fractures, Rickets |
OMIM:268315 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Spastic tetraplegia, Joint contracture, Myoclonus, Hypertrophic cardiomyopathy, Cerebral edema |
OMIM:614462 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Hypogonadism, Decreased testicular size, Ataxia |
OMIM:201100 |
Vici Syndrome |
|
Cerebellar vermis hypoplasia, Congestive heart failure, Dilated cardiomyopathy, Cardiomyopathy, A... |
OMIM:242840 |
Nmda Receptor Encephalitis |
|
Ovarian teratoma, Orthostatic hypotension, Involuntary movements, Oculogyric crisis, Orthostatic ... |
ORPHA:217253 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Polyhydramnios, Cardiomyopathy, Stillbirth, Tongue fasciculations, Myoclonus, Neonatal death |
OMIM:614922 |
Osteopetrosis With Renal Tubular Acidosis |
|
Recurrent fractures, Cranial nerve compression, Optic atrophy, Tetraparesis, Secondary hyperparat... |
ORPHA:2785 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Dystonia, Diabetes mellitus, Multiple joint contractures, Tremo... |
ORPHA:51 |
Juvenile Absence Epilepsy |
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Myoclonus |
ORPHA:1941 |
Galloway-Mowat Syndrome 10 |
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Cerebellar atrophy, Myoclonus, Congenital hypothyroidism |
OMIM:619609 |
Mercury Poisoning |
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Tremor, Dystonia |
ORPHA:330021 |
Rothmund-Thomson Syndrome Type 2 |
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Joint dislocation, Osteopenia, Facial edema, Cryptorchidism, Delayed skeletal maturation, Patella... |
ORPHA:221016 |
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
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Hypertonia, Myoclonus |
ORPHA:289266 |
Digeorge Syndrome |
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Parathyroid agenesis, Decreased circulating parathyroid hormone level, Parathyroid hypoplasia, He... |
OMIM:188400 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
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Joint dislocation, Osteopenia, Joint laxity, Genu recurvatum, Phalangeal dislocation, Craniosynos... |
OMIM:130070 |
Amyotrophic Lateral Sclerosis 21 |
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Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Loeys-Dietz Syndrome 3 |
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Joint laxity, Atrial fibrillation, Protrusio acetabuli, Craniosynostosis, Subarachnoid hemorrhage... |
OMIM:613795 |
Farber Disease |
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Abnormality of the knee, Abnormality of the wrist, Paraparesis, Abnormality of the elbow, Flexion... |
ORPHA:333 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
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Adrenal gland agenesis, Oligohydramnios |
OMIM:611812 |
Idiopathic Hypereosinophilic Syndrome |
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Generalized lymphadenopathy, Cholangitis, Neutrophilia, Confusion, Leukocytosis, Dilated cardiomy... |
ORPHA:3260 |
Primary Hyperoxaluria |
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Optic disc pallor, Recurrent fractures, Heart block, Raynaud phenomenon, Arterial occlusion, Gene... |
ORPHA:416 |
Crimean-Congo Hemorrhagic Fever |
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Bundle branch block, Stiff neck, Abnormal left ventricular function, Internal hemorrhage, Pericar... |
ORPHA:99827 |
Mitochondrial Dna Depletion Syndrome 19 |
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Hydrocele testis, Spasticity, Myoclonus, Tetraparesis |
OMIM:618972 |
3-Hydroxy-3-Methylglutaric Aciduria |
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Ataxia, Cardiac arrest, Edema, Spastic hemiparesis, Dilated cardiomyopathy, Dehydration, Myoclonu... |
ORPHA:20 |
Thyrotoxic Periodic Paralysis |
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Prolonged QT interval, Hyperthyroidism, Thyrotoxicosis with toxic single thyroid nodule, Paralysi... |
ORPHA:79102 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Speech apraxia, Joint laxity, Ataxia, Left ventricular noncompaction cardiomyopathy, Kyphoscolios... |
OMIM:300967 |
Chronic Visceral Acid Sphingomyelinase Deficiency |
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Osteopenia, Decreased serum insulin-like growth factor 1, Ataxia, Abnormal cerebellum morphology,... |
ORPHA:77293 |
Al-Gazali Syndrome |
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Proximal radio-ulnar synostosis, Osteopenia, Recurrent fractures, Polyhydramnios, Wrist flexion c... |
OMIM:609465 |
Dyskeratosis Congenita |
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Neoplasm of the pancreas, Diabetes mellitus, Telangiectasia of the skin, Recurrent fractures, Ost... |
ORPHA:1775 |
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome |
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Sudden cardiac death, Pericardial effusion, Congestive heart failure, Dilated cardiomyopathy, Hyp... |
ORPHA:73224 |
Epilepsy, Progressive Myoclonic, 10 |
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Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity |
OMIM:616640 |
Williams Syndrome |
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Osteopenia, Myocardial infarction, Tremor, Periorbital edema, Dysmetria, Abnormal form of the ver... |
ORPHA:904 |
Hallermann-Streiff Syndrome |
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Recurrent fractures, Cryptorchidism, Congestive heart failure, Reduced bone mineral density, Cere... |
ORPHA:2108 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Osteopenia, Diabetes mellitus, Cryptorchidism, Optic atrophy, Hypogonadism, Cerebellar hypoplasia... |
OMIM:614231 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
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Spasticity, Myoclonus, Polyhydramnios |
OMIM:612949 |
Renal Tubular Acidosis, Distal, 1 |
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Pathologic fracture, Osteomalacia |
OMIM:179800 |
Developmental And Epileptic Encephalopathy 2 |
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Inability to walk, Myoclonus, Scoliosis |
OMIM:300672 |
Microcephaly-Capillary Malformation Syndrome |
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Optic atrophy, Myoclonus, Spastic tetraparesis |
OMIM:614261 |
Orofaciodigital Syndrome Type 3 |
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Cerebellar vermis hypoplasia, Thoracic kyphosis, Myoclonus, Oculomotor apraxia, Spasticity, Dandy... |
ORPHA:2752 |
Aspartylglucosaminuria |
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Joint laxity, Kyphosis, Delayed skeletal maturation, Spasticity, Platyspondyly, Mitral regurgitat... |
OMIM:208400 |
Neuroleptic Malignant Syndrome |
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Tachycardia, Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Cho... |
ORPHA:94093 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Hypoalbuminemia |
OMIM:614748 |
Developmental And Epileptic Encephalopathy 100 |
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Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia, Choreoathetosis, Myoclon... |
OMIM:619777 |
Osteootohepatoenteric Syndrome |
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Avascular necrosis of the capital femoral epiphysis, Recurrent fractures, Dehydration, Reduced bo... |
OMIM:619377 |
Postpoliomyelitis Syndrome |
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Abnormal joint morphology, Fasciculations |
ORPHA:2942 |
Osteogenesis Imperfecta, Type Vii |
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Osteopenia, Wide cranial sutures, Protrusio acetabuli, Recurrent fractures, Multiple prenatal fra... |
OMIM:610682 |
Intellectual Developmental Disorder, Autosomal Dominant 42 |
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Limb dystonia, Cerebral palsy, Inability to walk, Congenital hypothyroidism, Myoclonus, Dystonia,... |
OMIM:616973 |
Primary Sjögren Syndrome |
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Somatic sensory dysfunction, Abnormality of the peripheral nervous system, Raynaud phenomenon, Ab... |
ORPHA:289390 |
Lathosterolosis |
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Bilobate gallbladder, Osteoporosis, Chiari malformation, Pathologic fracture, Butterfly vertebrae |
OMIM:607330 |
Hyperparathyroidism, Neonatal Severe |
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Primary hyperparathyroidism, Elevated circulating parathyroid hormone level, Recurrent fractures |
OMIM:239200 |
Listeriosis |
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Somatic sensory dysfunction, Pericarditis, Ataxia, Stiff neck, Osteomyelitis, Tremor, Congestive ... |
ORPHA:533 |
Early Infantile Epileptic Encephalopathy |
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Cerebellar atrophy, Tremor, Precocious puberty, Choreoathetosis, Myoclonus, Dystonia, Episodic at... |
ORPHA:1934 |
Acute Generalized Exanthematous Pustulosis |
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Neutrophilia, Eosinophilia, Leukocytosis, Cholestasis, Lymphadenopathy, Neutropenia |
ORPHA:293173 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
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Rigidity, Myoclonus |
OMIM:300673 |
Mowat-Wilson Syndrome |
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Cerebellar vermis hypoplasia, Flexion contracture, Agenesis of cerebellar vermis, Ataxia, Cryptor... |
ORPHA:2152 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Osteomalacia, Wrist swelling, Cryptorchidism, Kyphosis, Hip dislocation,... |
OMIM:309000 |
Grange Syndrome |
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Recurrent fractures, Renovascular hypertension, Increased susceptibility to fractures |
OMIM:602531 |
Porphyria, Congenital Erythropoietic |
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Osteopenia, Osteolysis, Cholelithiasis, Vertebral compression fracture, Joint contracture of the ... |
OMIM:263700 |
Glycerol Kinase Deficiency |
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Adrenocortical hypoplasia, Cryptorchidism, Osteoporosis, Adrenal insufficiency, Pathologic fracture |
OMIM:307030 |
Hydrolethalus Syndrome 1 |
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Adrenal gland dysgenesis, Polyhydramnios, Stillbirth, Dandy-Walker malformation |
OMIM:236680 |
Dent Disease |
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Enlargement of the ankles, Osteomalacia, Recurrent fractures, Enlargement of the wrists, Delayed ... |
ORPHA:1652 |
Hyper-Igd Syndrome |
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Neutrophilia, Lymphadenitis, Leukocytosis, Splenomegaly, Lymphadenopathy, Hepatosplenomegaly |
OMIM:260920 |
Early-Onset Lafora Body Disease |
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Ataxia, Myoclonus, Spastic tetraparesis |
ORPHA:324290 |
Lafora Disease |
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Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity, Giant soma... |
ORPHA:501 |
Oculopharyngodistal Myopathy 1 |
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Paroxysmal atrial fibrillation, Ataxia, Facial palsy, Tremor, Dilated cardiomyopathy, Difficulty ... |
OMIM:164310 |
3-Methylglutaconic Aciduria, Type Viii |
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Clonus, Tremor, Hypotonia, Hypertonia, Generalized hypotonia, Dystonia |
OMIM:617248 |
Mosaic Trisomy 20 |
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Vertebral fusion, Cryptorchidism, Abnormal spinal cord morphology, Kyphosis, Fused cervical verte... |
ORPHA:1724 |
Blue Rubber Bleb Nevus |
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Pathologic fracture, Intestinal bleeding |
OMIM:112200 |
Pgm3-Cdg |
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Osteomyelitis, Ataxia, Vasculitis in the skin, Myoclonus, Cortical myoclonus |
ORPHA:443811 |
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency |
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Spasticity, Myoclonus |
OMIM:246450 |
Primary Fanconi Renotubular Syndrome |
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Osteomalacia, Bone pain, Dehydration, Increased susceptibility to fractures, Hypophosphatemic ric... |
ORPHA:3337 |
Orofaciodigital Syndrome Iii |
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Kyphosis, Myoclonus |
OMIM:258850 |
Neutral Lipid Storage Myopathy |
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Diabetes mellitus, Congestive heart failure, Pineal cyst, Cardiomyopathy, Fasciculations, Difficu... |
ORPHA:98908 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
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Cerebellar atrophy, Ataxia, Hypertonia, Myoclonus, Spasticity |
OMIM:618426 |
Lysinuric Protein Intolerance |
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Delayed skeletal maturation, Osteoporosis, Recurrent fractures, Pulmonary hemorrhage |
OMIM:222700 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
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Speech apraxia, Prominent metopic ridge, Myoclonus |
ORPHA:314655 |
Yellow Fever |
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Acute pancreatitis, Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosi... |
ORPHA:99829 |
Opsoclonus-Myoclonus Syndrome |
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Ovarian teratoma, Ataxia, Rigidity, Myoclonus, Limb myoclonus |
ORPHA:1183 |
Pmm2-Cdg |
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Pericarditis, Pericardial effusion, Reduced thyroxin-binding globulin, Abnormal liver parenchyma ... |
ORPHA:79318 |
Combined Oxidative Phosphorylation Deficiency 14 |
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Cerebellar atrophy, Myoclonus |
OMIM:614946 |
Kinsship Syndrome |
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Osteopenia, Spastic tetraparesis, Hip dislocation, Myoclonus, Scoliosis, Dandy-Walker malformatio... |
OMIM:619297 |
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion |
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Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... |
ORPHA:353281 |
Lathosterolosis |
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Prominent metopic ridge, Chiari malformation, Myoclonus, Cerebellar cortical atrophy |
ORPHA:46059 |
Lysinuric Protein Intolerance |
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Osteopenia, Decreased response to growth hormone stimulation test, Delayed skeletal maturation, O... |
ORPHA:470 |
Myoclonic Epilepsy Of Lafora |
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Gait disturbance, Myoclonus, Apraxia |
OMIM:254780 |
Pneumocystosis |
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Abnormal neutrophil count |
ORPHA:723 |
Pontocerebellar Hypoplasia Type 7 |
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Involuntary movements, Olivopontocerebellar hypoplasia, Cryptorchidism, Optic atrophy, Hypertonia... |
ORPHA:284339 |
Tetrasomy 9P |
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Joint dislocation, Absent gallbladder, Pericarditis, Raynaud phenomenon, Cryptorchidism, Abnormal... |
ORPHA:3310 |
Tetraamelia Syndrome 1 |
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Adrenal gland agenesis |
OMIM:273395 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
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Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
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Hyperactivity, Bicuspid aortic valve, Ventricular septal defect, Impulsivity, Aggressive behavior... |
ORPHA:353277 |
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome |
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Myoclonus |
ORPHA:1352 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
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Cerebellar dysplasia, Optic atrophy, Myoclonus, Cerebellar hypoplasia, Spasticity, Cerebellar cyst |
OMIM:253280 |
Limb Body Wall Complex |
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Progressive congenital scoliosis, Abnormal spinal cord morphology, Spina bifida occulta, Spina bi... |
ORPHA:2369 |