Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Ataxia, Tremor, Hypotonia, Cerebellar hypoplasia, Scoliosis |
OMIM:213000 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Ga... |
OMIM:213200 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Spastic Paraplegia 62, Autosomal Recessive |
|
Lower limb spasticity, Thoracic scoliosis, Clonus, Abnormal cerebellum morphology, Babinski sign,... |
OMIM:615681 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Parkinsonism, Diffuse cerebral atrophy, R... |
OMIM:607136 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Gliosis, Neuronal loss in centra... |
OMIM:143100 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... |
OMIM:616053 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Scissor gait, Unsteady... |
ORPHA:101010 |
Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Gait ataxia, Lower limb hypertonia, Gait disturb... |
OMIM:618369 |
L-2-Hydroxyglutaric Aciduria |
|
Cerebellar atrophy, Ataxia, Spastic tetraparesis, Corpus callosum atrophy, Abnormal pyramidal sig... |
OMIM:236792 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign |
OMIM:311050 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Gait ataxia, Cerebellar hypoplasia, Nonprogressive cerebellar ataxia, Truncal a... |
ORPHA:94122 |
Cerebellar Ataxia, Cayman Type |
|
Broad-based gait, Hypotonia, Gait ataxia, Cerebellar hypoplasia, Truncal ataxia, Intention tremor |
OMIM:601238 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Spastic Paraplegia 32, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Babinski sign, Spastic paraplegia, Cerebral atrophy, A... |
OMIM:611252 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1I |
|
Cerebellar atrophy, Ataxia, Impaired distal proprioception, Babinski sign, Impaired distal vibrat... |
OMIM:619742 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Dysdiadochokinesis, Cerebral palsy, Broad-based gait |
OMIM:605388 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Gait distu... |
OMIM:614561 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Ethanolaminosis |
|
Cardiomegaly |
OMIM:227150 |
Spinocerebellar Ataxia 38 |
|
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem... |
OMIM:615957 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Ataxia, Inability to walk, Hypotonia, Appendicular hypotonia |
OMIM:619333 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Somatic sensory dysfunction, Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Gait ... |
OMIM:221820 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Hypotonia, Dysmetria, Loss of ambulation |
OMIM:617917 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Thoracic scoliosis, Broad-based gait, Ataxia,... |
OMIM:610185 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Kyphosis, Babinski sign,... |
OMIM:614409 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Axial hypotonia, Ataxia, Tremor, Babinski sign, Abnormal pyramid... |
OMIM:607317 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Pontocerebellar Hypoplasia, Type 4 |
|
Hypoplasia of the pons, Loss of Purkinje cells in the cerebellar vermis, Hypertonia, Gliosis, Myo... |
OMIM:225753 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Gliosis, Dystonia |
OMIM:300857 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Hypotonia, Dysmetria, Gait ataxia, Clumsiness, Generalized hypotonia,... |
OMIM:608029 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Hypotonia, Intention tremor, Abnormality of extrapyram... |
OMIM:302500 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cerebellar atrophy, Spastic gait, Limb ataxia, Gait ataxia |
OMIM:617133 |
Spinocerebellar Ataxia Type 5 |
|
Cerebellar atrophy, Incoordination, Slurred speech, Gait disturbance |
ORPHA:98766 |
Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Epilepsy, Progressive Myoclonic 7 |
|
Tremor, Cerebellar atrophy, Ataxia, Myoclonus |
OMIM:616187 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia |
OMIM:607458 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Axonal degeneration, Tetraplegia, Hand tremor, Distal sensory impairment, Degeneration of anterio... |
OMIM:604484 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Tremor, Spasticity, Babinski sign, Ataxia |
OMIM:611105 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Spastic Ataxia 2, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Dystonia With Cerebellar Atrophy |
|
Cerebellar atrophy, Torticollis, Progressive cerebellar ataxia, Dystonia, Craniofacial dystonia |
OMIM:611694 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Intention tremor |
OMIM:618876 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Dystonia, K... |
OMIM:616756 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Rigidity, Inability to walk, Hypotonia,... |
OMIM:618090 |
Spinocerebellar Ataxia 12 |
|
Axial dystonia, Cerebellar atrophy, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Autosomal Recessive Spastic Ataxia With Leukoencephalopathy |
|
Spastic ataxia, Dysmetria, Gait ataxia, Spastic dysarthria, Progressive cerebellar ataxia, Cerebe... |
ORPHA:314603 |
Developmental And Epileptic Encephalopathy 14 |
|
Clonus, Hypotonia, Tetraplegia, Gliosis, Generalized hypotonia, Spasticity, Neuronal loss in cent... |
OMIM:614959 |
Dystonia 23 |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Tremor, Kyphosis, Unsteady gait, Abnormal p... |
OMIM:617435 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
X-Linked Progressive Cerebellar Ataxia |
|
Babinski sign, Unsteady gait, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Hypotonia, Dysmetria,... |
OMIM:617916 |
Nescav Syndrome |
|
Appendicular spasticity, Cerebellar atrophy, Axial hypotonia, Ataxia, Inability to walk, Babinski... |
OMIM:614255 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Spinocerebellar Ataxia, Autosomal Recessive 29 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Generalized dystonia, Corpus ... |
OMIM:619389 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Dilated fourth ventricle, Impaired vibratory sensation, Dystonia, Ataxia, Par... |
OMIM:109150 |
Glut1 Deficiency Syndrome 1 |
|
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... |
OMIM:606777 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Cerebellar atrophy, Ataxia, Hypoplasia of the pons, Inability to walk, Hypotonia, Tongue fascicul... |
OMIM:618276 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Hypotonia, Obesity, Cerebellar hypoplasia, Limb dystonia |
OMIM:620270 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Unsteady ga... |
OMIM:616127 |
Ras-Associated Autoimmune Leukoproliferative Disorder |
|
Hepatomegaly, Pancytopenia, Hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Monocyto... |
OMIM:614470 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Segawa Syndrome, Autosomal Recessive |
|
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... |
OMIM:605407 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Impaired vibratory sensation, Ataxia, Parkinsonism, Babinski ... |
OMIM:617225 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Ataxia, Inability to walk, Dystonic gait, Hypotonia, Titubation, Gliosis, ... |
ORPHA:280210 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Cerebellar atrophy, Small for gestational age, Cerebral atrophy, Hypertonia, Cerebellar hemispher... |
OMIM:615095 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegi... |
OMIM:256600 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101075 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Spastic Paraplegia, Ataxia, And Mental Retardation |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Impaired vi... |
OMIM:607565 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Ataxia, Babinski sign, Spastic tetraplegia, Hypotonia, Gliosi... |
OMIM:612936 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Spastic paraplegia, Impaired vibrat... |
ORPHA:251282 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Hypotonia, Subcortical cerebral atrophy, Hypertonia, Cerebral cortical ... |
ORPHA:33445 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Mast Syndrome |
|
Cerebellar atrophy, Incoordination, Babinski sign, Spastic paraplegia, Cerebral atrophy, Athetosi... |
OMIM:248900 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Sporadic Creutzfeldt-Jakob Disease |
|
Ataxia, Babinski sign, Abnormal pyramidal sign, Cerebral atrophy, Astrocytosis, Abnormality of ex... |
ORPHA:204 |
Neurodevelopmental Disorder With Regression, Abnormal Movements, Loss Of Speech, And Seizures |
|
Cerebellar atrophy, Ataxia, Corpus callosum atrophy, Babinski sign, Hypotonia, Dysmetria, Cerebra... |
OMIM:618088 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity |
ORPHA:309169 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Axial hypotonia, Ataxia, Tremor, Inability to walk,... |
OMIM:614831 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Axial hypotonia, Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent f... |
OMIM:616921 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Steppage gait |
OMIM:618387 |
Familial Infantile Bilateral Striatal Necrosis |
|
Failure to thrive, Dystonia, Ataxia, Spastic tetraparesis, Basal ganglia gliosis, Rigidity, Babin... |
ORPHA:225154 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:101078 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Dysmetria, ... |
OMIM:610357 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Babinski sign, Slurred s... |
ORPHA:93952 |
Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Babinski sign, Limb ataxia, Gait ataxia |
OMIM:614322 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, G... |
OMIM:616230 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Spinocerebellar Ataxia, Autosomal Recessive 10 |
|
Cerebellar atrophy, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal a... |
OMIM:613728 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Ataxia, Writer's cramp, Parkinsonism, Involuntary movements, Rig... |
ORPHA:98759 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Ataxia, Babinski sign, Dysmetria, Cerebellar hypoplasia, Truncal ataxia |
OMIM:617584 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Leukodystrophy, Hypomyelinating, 18 |
|
Cerebellar atrophy, Dystonia, Atrophy/Degeneration affecting the brainstem, Babinski sign, Spasti... |
OMIM:618404 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Hypotonia, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, G... |
ORPHA:457240 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Dentatorubral-Pallidoluysian Atrophy |
|
Atrophy of the dentate nucleus, Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia |
OMIM:125370 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Kyphosis, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal ... |
OMIM:610743 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... |
OMIM:614898 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 1 |
|
Cerebellar atrophy, Broad-based gait, Hypotonia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Cere... |
OMIM:224050 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, L... |
ORPHA:319199 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Hyperlordosis, Tremor, Kyp... |
OMIM:128100 |
Congenital Cerebellar Ataxia Due To Rnu12 Mutation |
|
Cerebellar atrophy, Broad-based gait, Gait ataxia, Poor fine motor coordination, Difficulty walki... |
ORPHA:512260 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Gait a... |
ORPHA:248111 |
Developmental And Epileptic Encephalopathy 37 |
|
Cerebellar atrophy, Rigidity, Chorea, Hypotonia, Cerebral atrophy, Cogwheel rigidity, Choreoathet... |
OMIM:616981 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 42 |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Fasciculations, Difficulty walking, Distal sensory impairment |
OMIM:615048 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, General... |
ORPHA:71517 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Hand tremor, Spastic dysarthr... |
ORPHA:401830 |
Spinocerebellar Ataxia 13 |
|
Cerebellar atrophy, Impaired distal vibration sensation, Abnormal pyramidal sign, Hypotonia, Limb... |
OMIM:605259 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal sensory impairment |
OMIM:614369 |
Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Kyphoscoliosis, Impai... |
ORPHA:3115 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Hypotonia, Dysmetria, Gait ataxia, Cerebellar hypo... |
OMIM:617810 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Dysmetria, Gait ataxia, Ataxia, Limb fasciculations, Scoliosis, Spastic paraparesis, Apra... |
OMIM:615157 |
Porphyria, Acute Hepatic |
|
Paralysis, Hypotonia, Respiratory paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Autosomal Spastic Paraplegia Type 58 |
|
Spastic ataxia, Cerebellar atrophy, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal ... |
ORPHA:397946 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Hypotoni... |
OMIM:619054 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Dysmetria, Progressive cerebellar ataxia, Abnormality of extrapyra... |
OMIM:164500 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Spastic tetraplegia, Generalized hypotonia, Scoliosis, Spasticity |
OMIM:617207 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Dystonia, Cerebellar vermis hypoplasia, Babinski sign, Slurred speech, Unsteady gait, Dysmetria, ... |
ORPHA:453521 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Generalized hypotonia, Ataxia, Kyphoscoliosis |
OMIM:619099 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cer... |
OMIM:607346 |
Spinocerebellar Ataxia, X-Linked 5 |
|
Neonatal hypotonia, Ataxia, Action tremor |
OMIM:300703 |
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Distal sensory impairment, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:604218 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Bradykinesia, Chiari type I malformation, Generalized hypotonia, Dystonia |
OMIM:617836 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Babinski... |
OMIM:600363 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... |
ORPHA:79263 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Axial hypotonia, Ataxia, Short neck, Tremor, Failure to thrive |
OMIM:618951 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Hypotonia, Limb ataxia, Dysme... |
OMIM:117360 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Ataxia, Inability to walk, Atrophy/Degeneration affecting the brainstem, Hypo... |
OMIM:617954 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Di... |
ORPHA:98764 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal py... |
OMIM:613135 |
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Ataxia, Corpus callosum atrophy, Abnormal cerebellum morphology, Babinski sign, Pseudobulbar para... |
OMIM:169500 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Babinski sign, Unsteady gait, Dysmetria, Gait disturbance, Pr... |
OMIM:210000 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Paralysis, Hypotonia, Cerebral atrophy, Generalized hypotonia |
OMIM:616286 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Lower limb spasticity, Abnormal cerebellar peduncle morphology, Cerebellar ve... |
ORPHA:98 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Abnormal pyramidal sign, Hypotonia, Progressive cerebellar ataxia, My... |
ORPHA:139485 |
Spastic Paraplegia 5A, Autosomal Recessive |
|
Lower limb spasticity, Postural tremor, Impaired distal proprioception, Abnormal cerebellum morph... |
OMIM:270800 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Scoli... |
ORPHA:330050 |
Leigh Syndrome |
|
Ataxia, Hypotonia, Hepatocellular necrosis, Gliosis, Generalized hypotonia, Dystonia, Spasticity,... |
OMIM:256000 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Focal dystonia, Clumsiness, Gait... |
ORPHA:216873 |
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To |
|
Acute myeloid leukemia, Leukopenia, Monocytosis, Refractory anemia |
OMIM:616871 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus |
OMIM:612437 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Spastic ataxia, Cerebellar atrophy, Impaired distal proprioception, Tremor, Abnormal cerebellum m... |
ORPHA:137898 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Cerebellar ... |
OMIM:620158 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Axial hypotonia, Ataxia, Kyphosis, Appendicular hypotonia, Tongue fasciculations, Failure to thrive |
OMIM:620007 |
Huntington Disease-Like 1 |
|
Incoordination, Rigidity, Chorea, Unsteady gait, Dysmetria, Basal ganglia gliosis, Global brain a... |
OMIM:603218 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Cerebellar gliosis, Babinski sign, Hypotonia, Dysmetria, Gait... |
OMIM:616505 |
Autosomal Recessive Spastic Paraplegia Type 46 |
|
Cerebellar atrophy, Lower limb spasticity, Broad-based gait, Ataxia, Corpus callosum atrophy, Bab... |
ORPHA:320391 |
Spinocerebellar Ataxia Type 2 |
|
Postural tremor, Parkinsonism, Kinetic tremor, Olivopontocerebellar hypoplasia, Chorea, Cerebella... |
ORPHA:98756 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Cerebral atrophy, Tip-t... |
ORPHA:496689 |
Parkinson-Dementia Syndrome |
|
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign |
OMIM:260540 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Kyphosis, Atroph... |
ORPHA:88644 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Impaired pain sensation, Tremor, Kyphosis, Paraparesis, Gait disturbance, Scoliosis |
ORPHA:99014 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal sensory impairment, Difficulty walking, Scoliosis, Paralysis |
OMIM:605285 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Spastic Ataxia 3, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Scoliosis, Dystonia, Loss of ... |
OMIM:611390 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Gait disturbance, Myoclonus, Gliosis, Apraxia, ... |
OMIM:221770 |
Spinocerebellar Ataxia 5 |
|
Cerebellar atrophy, Impaired vibratory sensation, Broad-based gait, Incoordination, Ataxia, Hypot... |
OMIM:600224 |
Spinocerebellar Ataxia 14 |
|
Cerebellar atrophy, Dysmetria, Focal dystonia, Gait ataxia, Progressive cerebellar ataxia, Impair... |
OMIM:605361 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Postural tremor, Impaired temperature ... |
ORPHA:99947 |
Hypermanganesemia With Dystonia 2 |
|
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... |
OMIM:617013 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Axonal... |
OMIM:208920 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Cerebellar calcifications, Rigidity, Babinski sign, Limb atax... |
OMIM:618824 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Dystonia, Impaired pain sensation, Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, ... |
ORPHA:500180 |
Spectrin-Associated Autosomal Recessive Cerebellar Ataxia |
|
Cerebellar atrophy, Slurred speech, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:352403 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Dystonia, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spa... |
OMIM:615889 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation |
OMIM:614018 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ataxia, Small for gestational age, Inability to walk, Cerebellar gliosis, Hypotonia, Cerebral atr... |
ORPHA:79243 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia, Scoliosis |
ORPHA:640 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Spinocerebellar Ataxia Type 28 |
|
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... |
ORPHA:101109 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... |
OMIM:168601 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Rigidity, Hypotonia, Choreoathetosis, Dyston... |
OMIM:612438 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Dystonia, Parkinsonism, Tremor, Bradykinesia, Hemiparesis, Scoliosis, Generalized hypotonia, Diff... |
ORPHA:306669 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Hyperphenylalaninemia, Bh4-Deficient, D |
|
Tremor, Hypertonia, Generalized hypotonia |
OMIM:264070 |
Pontocerebellar Hypoplasia, Type 2A |
|
Hypoplasia of the pons, Chorea, Opisthotonus, Gliosis, Cerebellar hypoplasia, Extrapyramidal dysk... |
OMIM:277470 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Generalized hypotonia, Oc... |
ORPHA:208513 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Generalized hypotonia, Impaired vibratory sensation, Ataxia, Parkinsonism, Myoclonus, ... |
OMIM:183090 |
Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebellar atrophy, Dystonia, Ataxia, Head titubation, Dysesthesia, Abnormal pyramidal sign, Cere... |
ORPHA:527497 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Gait disturbance, Scoliosis, Spastic para... |
ORPHA:101077 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Spastic Paraplegia 7, Autosomal Recessive |
|
Spastic ataxia, Lower limb spasticity, Cerebellar atrophy, Waddling gait, Degeneration of the lat... |
OMIM:607259 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Myoclonus |
OMIM:612016 |
Spastic Paraplegia 75, Autosomal Recessive |
|
Cerebellar atrophy, Corpus callosum atrophy, Babinski sign, Abnormal pyramidal sign, Hypotonia, D... |
OMIM:616680 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Spastic tetraplegia, Generalized hypotonia, Dystonia, Failure to th... |
OMIM:618237 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Reduction of oligodendroglia, Tre... |
OMIM:312080 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Kyphosis, Inability to walk, Li... |
ORPHA:3095 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Dysmetria, Gait ataxia, Dys... |
OMIM:616204 |
Immunodeficiency 14B, Autosomal Recessive |
|
Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis |
OMIM:619281 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia 28 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Parkinsonism, Babinski sign, Limb ataxia, Gait a... |
OMIM:610246 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Atrophy/Degeneration aff... |
OMIM:612319 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Gait di... |
OMIM:617404 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Spinocerebellar Ataxia 27B, Late-Onset |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia |
OMIM:620174 |
Spastic Paraplegia 85, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Torticollis, Impaired vibratory sensation, Impaired te... |
OMIM:619686 |
Immunodeficiency 15B |
|
Monocytosis, Reduced natural killer cell count |
OMIM:615592 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Tremor, Babinski sign, Distal sensory impairment, Hypertonia, Steppage gait, Scoliosis, Spasticity |
OMIM:609260 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Incoordination, Tremor, Paraparesis, Babinski sign, Axonal degeneration, Dysm... |
OMIM:302800 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Adult Idiopathic Neutropenia |
|
Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia |
ORPHA:2688 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Abnormal astrocyte morphology, Gliosis, Cerebellar hypoplasia, Spasticity |
ORPHA:168486 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Blepharospasm, Bradykinesia, Falls, Gliosis, Dystonia, Neuronal ... |
ORPHA:683 |
Spastic Paraplegia 26, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, D... |
OMIM:609195 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Impaired vibratory sensation, Ataxia, Postural tremor,... |
OMIM:615491 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Unsteady gait, Obesity, ... |
ORPHA:464282 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Babinski sign, Unsteady gait, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Spastic Paraparesis And Deafness |
|
Tremor, Spastic paraparesis |
OMIM:312910 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Hypotonia, Spasticity, Generalized... |
ORPHA:363717 |
Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
Limb dystonia, Cerebellar atrophy, Torticollis, Head titubation, Abnormal pyramidal sign, Hypoton... |
OMIM:617560 |
Spinocerebellar Ataxia 46 |
|
Cerebellar atrophy, Limb ataxia, Dysmetria, Gait ataxia, Positive Romberg sign |
OMIM:617770 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Gait disturbance, Tongue fascicul... |
ORPHA:276435 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Cerebral palsy, Kyphoscoliosis, Corpus callosum atrophy, Unsteady gait, Hippocampal atrophy, Dyst... |
OMIM:301107 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Distal sensory impairment, Difficulty walking, Paralysis |
OMIM:613710 |
Leukoencephalopathy With Vanishing White Matter 1 |
|
Unsteady gait, Hypotonia, Gait disturbance, Gliosis, Generalized hypotonia, Spasticity |
OMIM:603896 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Small for gestational age, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia,... |
OMIM:619847 |
Myoclonic-Atonic Epilepsy |
|
Ataxia, Tremor, Hypotonia, Eyelid myoclonus, Scoliosis |
OMIM:616421 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A... |
OMIM:230650 |
Dystonia 11, Myoclonic |
|
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus |
OMIM:159900 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... |
ORPHA:845 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Oculomotor apraxia, Unsteady gait, Dysmetria, Generalized hyp... |
OMIM:614867 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hypoplasia of the pons, Hypotonia, Limb ataxia, Hand tremor, Hypoplasia of the ventral po... |
OMIM:607596 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Cardiomyopathy, Dilated, 1I |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:604765 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Cerebellar atrophy, Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia,... |
OMIM:618598 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Resting tremor, Camptocormia, Axial hypotonia, Involuntary movements, Chorea, Hypotonia, Choreoat... |
OMIM:606703 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk, Hypotonia |
OMIM:619561 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiadochokinesis... |
OMIM:133190 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, Impaired pain sensation, Kyphosis, Unsteady gait, Hypotonia, Obesity, Distal sensory impa... |
OMIM:618124 |
Hemimegalencephaly |
|
Hemiparesis, Gliosis, Myoclonus, Abnormal neuron morphology |
ORPHA:99802 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Hyperlordosis, Kyphosis, Babinski sign, S... |
OMIM:615290 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Postural tremor, Truncal titubation, Ba... |
OMIM:609270 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Dilated fourth ventricle, Substantia nigra gliosis, Facial-lingual fasciculat... |
ORPHA:276241 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Spa... |
ORPHA:329284 |
Ataxia-Telangiectasia-Like Disorder |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Chorea, Dysme... |
ORPHA:251347 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Axial hypotonia, Clonus, Rigidity, Babinski sign, Hypertonia, Gliosis, Myoclonic spasms, Neuronal... |
OMIM:614498 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Waddling gait, Abnormal lower motor neuron morphology, Tremor, Inability to walk, Eyelid myoclonu... |
ORPHA:2590 |
Epilepsy, Familial Adult Myoclonic, 5 |
|
Tremor, Hippocampal sclerosis, Myoclonus |
OMIM:615400 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis, C... |
OMIM:105500 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Hypotonia, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Axial hypotonia, Ataxia, Parkinsonism, Kyphoscoliosis, Short neck, Tremor, Facial... |
OMIM:300055 |
Ataxia-Telangiectasia-Like Disorder 1 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Chorea, Unsteady gait, Hypotonia, Dysmetria, G... |
OMIM:604391 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Axial hypotonia, Oculogyric crisis, Tremor, Hypotonia, Dysd... |
OMIM:618049 |
Sandhoff Disease |
|
Kyphosis, Failure to thrive, Ataxia |
ORPHA:796 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Shuffling gai... |
OMIM:615528 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Dysmetria, Dystonia, Loss of ... |
OMIM:607694 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Hypotonia, Limb ataxia, Gait ataxia, Scoliosis, Spasticity,... |
OMIM:248800 |
Perrault Syndrome 1 |
|
Cerebellar atrophy, Ataxia, Spastic diplegia, Gait ataxia, Scoliosis, Intention tremor |
OMIM:233400 |
Mannosidosis, Alpha B, Lysosomal |
|
Cerebellar atrophy, Corpus callosum atrophy, Increased vertebral height, Babinski sign, Abnormal ... |
OMIM:248500 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis, Hypotonia |
OMIM:615119 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Tremor, Spasticity, Ataxia, Cerebral cortical atrophy |
OMIM:300983 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypotonia, Hypertonia, Myoclonus, I... |
OMIM:612736 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypotonia, Hypertonia, Cerebellar hypoplasia, Failure to thrive |
OMIM:619556 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Small for gestational age, Kyphosc... |
OMIM:214150 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Cerebellar atrophy, Lower limb spasticity, Diffuse cerebral atrophy, Ataxia, Inability to walk, H... |
OMIM:617193 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Diffuse cerebral atrophy, Axial hypotonia, Head titubation, Vestibular areflexia, Spastic tetrapl... |
ORPHA:3240 |
Baralle-Macken Syndrome |
|
Kyphosis, Inability to walk, Obesity, Dystonia, Neonatal hypotonia, Spasticity, Global brain atrophy |
OMIM:619255 |
Machado-Joseph Disease Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Abnormal lower motor neuron morphology, Substantia ... |
ORPHA:276244 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Paresthesia, Scoliosis, Abnormality of the ... |
ORPHA:48431 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls |
OMIM:619647 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Generalized hypotonia,... |
ORPHA:529665 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetos... |
OMIM:261640 |
Mepan Syndrome |
|
Axial dystonia, Cerebellar atrophy, Dystonia, Ataxia, Hemidystonia, Chorea, Hypotonia, Cerebral a... |
ORPHA:508093 |
Immunodeficiency 21 |
|
Aplastic anemia, B lymphocytopenia, Cervical intraepithelial neoplasia, Neutropenia, Monocytopeni... |
OMIM:614172 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Spastic Paraplegia 20, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Kyphoscoliosis, Abnormal cerebellum morphology, Babins... |
OMIM:275900 |
Developmental And Epileptic Encephalopathy 56 |
|
Broad-based gait, Ataxia, Poor coordination, Hypotonia, Scoliosis, Action tremor |
OMIM:617665 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... |
OMIM:272750 |
Spastic Ataxia 5, Autosomal Recessive |
|
Spastic ataxia, Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Dysdiadochokinesis, Myoclonus, S... |
OMIM:614487 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Choreoathetosis, Frontotemporal cerebral atrophy, Gait disturbance, Myo... |
ORPHA:391417 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoclonus, Difficu... |
OMIM:159950 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... |
ORPHA:99750 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Clonus, Chorea, Opisthotonus, Hypertonia, Ataxia, Parkinsonism, Upper limb spasticity, Arm dyston... |
ORPHA:300605 |
Immunodeficiency 83, Susceptibility To Viral Infections |
|
Hemiparesis, Gliosis |
OMIM:613002 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Abnormal vestibulo-ocular reflex, Slurred speech, Dys... |
OMIM:183086 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity |
OMIM:612716 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradyki... |
OMIM:300894 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, A... |
ORPHA:458803 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Hypospadias, Cardiomegaly, Cryptorchidism, Perimembranous ventricular septal defect, Atrial septa... |
OMIM:620135 |
Tremor, Hereditary Essential, 1 |
|
Postural tremor, Hand tremor, Action tremor |
OMIM:190300 |
Hereditary Methemoglobinemia |
|
Cerebellar atrophy, Small for gestational age, Spastic tetraplegia, Temporal cortical atrophy, At... |
ORPHA:621 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Impaired distal proprioception, Impaired pain sensation, Inabilit... |
ORPHA:99948 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Cerebellar atrophy, Dystonia, Ataxia, Dysmetria, Spastic dysarthria, Dysdiadochokinesis, Myoclonu... |
ORPHA:313772 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Severe muscular hypotonia, Tremor, Babinski sign, Spastic paraplegia, Difficult... |
ORPHA:477673 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Kyphoscoliosis, Distal sensory impairment, Gait ataxia, Action tremor |
OMIM:180800 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Gliosis, Shuffling g... |
ORPHA:411602 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, Thoracic kyphosis, Myoclonus... |
OMIM:619092 |
Spinocerebellar Ataxia 26 |
|
Cerebellar atrophy, Incoordination, Limb ataxia, Gait ataxia, Truncal ataxia |
OMIM:609306 |
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Postural tremor, Babinski sign, Hypotonia, Truncal o... |
OMIM:301072 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... |
OMIM:606159 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Axial hypotonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor,... |
ORPHA:352649 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Sensory ataxia, ... |
ORPHA:445062 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Kyphosis, Hypotonia, Choreoathetosis, Gait distur... |
ORPHA:702 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Generalized hypotonia, Truncal ataxia |
OMIM:618587 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia, T... |
ORPHA:37612 |
Cataract-Ataxia-Deafness Syndrome |
|
Tremor, Hypertonia, Ataxia |
ORPHA:1368 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Progressive truncal ataxia, Spastic ataxia, Ataxia, Loss of Purkinje cells in the cerebellar verm... |
OMIM:270550 |
Spinocerebellar Ataxia Type 10 |
|
Cerebellar atrophy, Lower limb spasticity, Kinetic tremor, Babinski sign, Unsteady gait, Dysmetri... |
ORPHA:98761 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Head titubation, Inability to walk, Hypotonia, Cerebral... |
OMIM:618877 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Axial hypotonia, Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Cerebe... |
OMIM:619422 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Loss of Purkinje cells in the cerebellar vermis, Slu... |
ORPHA:98755 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Rigidity, Hypoplasia of the pons, Unste... |
ORPHA:98760 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... |
OMIM:601104 |
Spinocerebellar Ataxia Type 36 |
|
Ataxia, Loss of Purkinje cells in the cerebellar vermis, Babinski sign, Truncal ataxia, Dysmetria... |
ORPHA:276198 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Tremor, Kyphosis, Inability to walk, Cerebellar vermis... |
OMIM:617988 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Fasciculations |
ORPHA:65684 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Short neck, Paucity of anterior horn motor neurons, Kypho... |
OMIM:611890 |
Myasthenic Syndrome, Congenital, 16 |
|
Gait disturbance, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity |
|
Lower limb spasticity, Babinski sign, Abnormal pyramidal sign, Truncal ataxia, Impaired vibration... |
ORPHA:352641 |
Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Axial hypotonia, Chorea, Myoclonus, Difficulty walking, Dystonia, Limb hypertonia |
ORPHA:324588 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal ... |
OMIM:619574 |
Immunodeficiency 91 And Hyperinflammation |
|
Hepatomegaly, Neutrophilia, Hepatosplenomegaly, Monocytosis, Hemophagocytosis, Thrombocytopenia |
OMIM:619644 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Kyphosis, Difficulty walking, Scoliosis, Distal sensory impairment |
OMIM:617087 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Truncal obesity, Gait disturbance, Scoliosis, Spasticity |
ORPHA:2429 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnor... |
ORPHA:289494 |
Autosomal Dominant Severe Congenital Neutropenia |
|
Acute myeloid leukemia, Aplastic anemia, Eosinophilia, Acute lymphoblastic leukemia, Monocytosis,... |
ORPHA:486 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Primary Dystonia, Dyt4 Type |
|
Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements, Kyphoscoliosis, Uppe... |
ORPHA:98805 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Broad-based gait, Gait ataxia, Distal sensory impairment, Sensory ataxia, Steppage gait, Scoliosi... |
OMIM:614895 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking |
OMIM:613608 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Dysmetria, Titubation, Gait ataxia, Head tremor |
ORPHA:98771 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Hyperlordosis, Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebr... |
ORPHA:1192 |
Spinocerebellar Ataxia 21 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Akinesia, Limb ataxia, Gait ataxia, Co... |
OMIM:607454 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Kyphoscoliosis, Tremor, Inability to walk, Hypotonia, Choreoathetosis, Dyston... |
OMIM:617664 |
Allan-Herndon-Dudley Syndrome |
|
Axial hypotonia, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in infancy,... |
ORPHA:59 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Hypotonia, Neurodegeneration, Gliosis, Generalized hypotonia, Spasticity, Neu... |
OMIM:616239 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Axial dystonia, Cerebellar atrophy, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Cere... |
ORPHA:442835 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Ataxia, Elongated superior cerebellar peduncle, Head titubation, Hypoto... |
ORPHA:370022 |
Autosomal Recessive Spastic Paraplegia Type 39 |
|
Cerebellar atrophy, Lower limb spasticity, Atrophy of the spinal cord, Babinski sign, Spastic par... |
ORPHA:139480 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Hypotonia |
OMIM:618328 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Hypertonia, Gliosis, Spastic tetraplegia, Tetraplegia |
OMIM:608033 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Axial hypotonia, Ataxia, Generalized dystonia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gai... |
OMIM:618321 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Babinski sign, Spastic paraplegia, Impaired distal vibration sen... |
OMIM:616586 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism with favorable response to... |
OMIM:616710 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Hypotonia, Myoclonus |
OMIM:616366 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Hypotonia, Cerebral atrophy, Gliosis, Brain atrophy, Limb dystonia, Basal gan... |
OMIM:604377 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Unsteady gait, Blepharospasm, Spastic dysarthria, B... |
ORPHA:240094 |
Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Hypotonia, Cerebral atrophy, Gliosis, Myoclonus, At... |
OMIM:614946 |
Familial Acute Necrotizing Encephalopathy |
|
Rigidity, Spastic tetraplegia, Hypertonia, Gait disturbance, Gliosis, Spasticity |
ORPHA:88619 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Dystonia, Tremor, Chorea, Impaired distal vibration sensation, Abnormal pyram... |
OMIM:606002 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Lower limb spasticity, Resting tremor, Broad-based gait, Parkinsonism, Kyphoscoliosis, Tremor, Ob... |
ORPHA:3077 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Failure to thrive, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Hy... |
OMIM:203700 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochok... |
OMIM:614381 |
X-Linked Severe Congenital Neutropenia |
|
Monocytopenia, Neutropenia |
ORPHA:86788 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Dysdiadocho... |
ORPHA:247234 |
Ataxia-Oculomotor Apraxia 4 |
|
Cerebellar atrophy, Impaired vibratory sensation, Ataxia, Atrophy/Degeneration affecting the brai... |
OMIM:616267 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Babinski sign, Abnormal pyramidal sign, Dysmetria, Gait ataxi... |
OMIM:603516 |
Spinocerebellar Ataxia 36 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Hypotonia, Limb ataxia, Gait ataxia, H... |
OMIM:614153 |
Neutropenia, Severe Congenital, X-Linked |
|
Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia |
OMIM:300299 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Hypotonia, Spastic tetraparesis |
OMIM:619470 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Tremor, Inability to walk, Waddling gait |
OMIM:616269 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Supranuclear Palsy, Progressive, 2 |
|
Eyelid apraxia, Axial dystonia, Postural tremor, Parkinsonism, Akinesia, Rigidity, Granulovacuola... |
OMIM:609454 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Pelizaeus-Merzbacher Disease, Classic Form |
|
Axial hypotonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Hypotonia, Dystonic gait,... |
ORPHA:280219 |
Late-Infantile/Juvenile Krabbe Disease |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Slurred speech, Spastic diplegia, Tetrapl... |
ORPHA:206443 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... |
ORPHA:53351 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Myoclonus |
OMIM:615127 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Scoliosis... |
OMIM:606612 |
Neuronal Intranuclear Inclusion Disease |
|
Somatic sensory dysfunction, Ataxia, Tremor, Rigidity, Gait disturbance |
OMIM:603472 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Ataxia, Tremor, Spastic tetraplegi... |
OMIM:617710 |
Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Kyphosis, Abnormal muscle tone, Gait disturbance, Difficulty walking, Sc... |
ORPHA:505652 |
Developmental And Epileptic Encephalopathy 42 |
|
Ataxia, Tremor, Athetosis, Hypertonia, Generalized hypotonia |
OMIM:617106 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Truncal titubation, Ab... |
OMIM:618056 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... |
OMIM:233910 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Thoracic kyphosis, Gliosis, Abnormal cerebellar ped... |
ORPHA:909 |
Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Low back pain, Tremor, Abnormal cerebellum morphology, Corpus callosum atrophy, Babinski sign, Ab... |
ORPHA:447753 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight |
OMIM:618392 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Axonal degeneration, Impaired vibration sensation in the lo... |
ORPHA:88628 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:102 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Axial hypotonia, Oculogyric crisis, Small for gestational age, Tremor, Rigidity, ... |
ORPHA:70594 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Distal sensory impairment, Limb fascicula... |
ORPHA:90117 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ank... |
OMIM:609541 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Axial hypotonia, Cerebellar vermis hypoplasia, Hypoplasia of the pons, Kypho... |
OMIM:619909 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Kypho... |
ORPHA:97349 |
Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Ataxia, Kyphoscoliosis, Obesity, Dystonia, Oculomotor apraxia |
ORPHA:459033 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Ataxia, Kyphoscoliosis, Dystonia |
OMIM:616684 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... |
ORPHA:227510 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Axial hypotonia, Rigidity, Paraparesis, Chorea, Babinski sign, Abnormal pyramidal sign, Truncal t... |
OMIM:607483 |
Neutropenia, Severe Congenital, 4, Autosomal Recessive |
|
Hepatomegaly, Cor triatriatum, Intermittent thrombocytopenia, Secundum atrial septal defect, Sple... |
OMIM:612541 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis, Myoclonus, Dys... |
ORPHA:254881 |
Spinocerebellar Ataxia With Axonal Neuropathy Type 2 |
|
Somatic sensory dysfunction, Ataxia, Postural tremor, Babinski sign, Abnormal pyramidal sign, Cho... |
ORPHA:64753 |
Spinocerebellar Ataxia 27A |
|
Cerebellar atrophy, Impaired vibratory sensation, Postural tremor, Limb ataxia, Gait ataxia, Abno... |
OMIM:193003 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal dentate nucleus morphology, Dystonia, Ataxia, Involuntary movements,... |
ORPHA:506 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Myopathy With Extrapyramidal Signs |
|
Ataxia, Clonus, Short neck, Tremor, Chorea, Hypotonia, Clumsiness, Choreoathetosis, Abnormality o... |
OMIM:615673 |
Rett Syndrome |
|
Dystonia, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity, C... |
OMIM:312750 |
Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, Hypotonia, Generalized hypotonia |
OMIM:300215 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Kyphosis, Abnormal cerebellum morphology, Vocal cord paralysis, Hypotonia, Clumsiness, An... |
OMIM:211530 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... |
ORPHA:101 |
Developmental And Epileptic Encephalopathy 46 |
|
Axial hypotonia, Tremor, Cerebral atrophy, Failure to thrive, Limb hypertonia |
OMIM:617162 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Abnormal cerebellum morphology,... |
ORPHA:324737 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... |
ORPHA:98933 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Hypotonia, Cerebral atrophy, Choreoathetosis, Myoclonus, Gener... |
OMIM:312170 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Kyphosis, Hypotonia, Gait ataxia, Abdominal obesity, Generalized hypotonia, Cerebellar ve... |
OMIM:300354 |
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 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Axial dystonia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Ataxia With Vitamin E Deficiency |
|
Cerebellar atrophy, Ataxia, Impaired proprioception, Dysmetria, Clumsiness, Progressive cerebella... |
OMIM:277460 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hypoesthesia, Vocal cord paralysis, Hand paresthesia |
OMIM:162500 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Axial hypotonia, Tremor, Patent ductus arterios... |
OMIM:620327 |
Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Failure to thrive, Impaired pain sensation, I... |
ORPHA:99949 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Ataxia, Vestibular areflexia, Limb ataxia, Gait ataxia, Positive Romberg sign... |
OMIM:614575 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Bab... |
OMIM:601162 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Speech apraxia, Cerebellar atrophy, Waddling gait, Dystonia, Ataxia, Hyperlordosis, Tremor, Inabi... |
OMIM:615356 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis |
ORPHA:140989 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Hypotonia, Distal sensory impairment |
OMIM:616287 |
Charcot-Marie-Tooth Disease And Deafness |
|
Tremor, Steppage gait, Gait disturbance, Distal sensory impairment |
OMIM:118300 |
Primary Non-Essential Cutis Verticis Gyrata |
|
Gliosis, Scoliosis |
ORPHA:357225 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize... |
ORPHA:36387 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Severe muscular hypotonia, Spinal rigidity, Kyphosis, Hypotonia, Scoliosis |
OMIM:618323 |
Neuroferritinopathy |
|
Resting tremor, Abnormal dentate nucleus morphology, Caudate atrophy, Parkinsonism, Writer's cram... |
ORPHA:157846 |
Attrv30M Amyloidosis |
|
Cardiomyopathy, Abnormal autonomic nervous system physiology, Cardiomegaly |
ORPHA:85447 |
Immunodeficiency 32B |
|
Hepatomegaly, Neutrophilia, Eosinophilia, Splenomegaly, Thrombocytopenia, Impaired oxidative burs... |
OMIM:226990 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Dystonia,... |
OMIM:168600 |
Autosomal Recessive Spastic Paraplegia Type 9B |
|
Postural tremor, Kyphoscoliosis, Corpus callosum atrophy, Babinski sign, Tetraplegia, Tip-toe gai... |
ORPHA:447760 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal astrocyte morphology, Tremor, Babinski sign, Spastic paraplegia, Cerebral atrophy, Tip-t... |
ORPHA:83629 |
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome |
|
Cardiomegaly |
ORPHA:88643 |
Sialidosis Type 2 |
|
Tremor, Kyphosis, Ataxia, Generalized hypotonia |
ORPHA:87876 |
Infantile Neuroaxonal Dystrophy |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Spastic tetraparesis, Cerebellar gliosis, Unsteady g... |
ORPHA:35069 |
Gillespie Syndrome |
|
Cerebellar atrophy, Postural tremor, Ataxia, Slurred speech, Cerebellar hypoplasia, Generalized h... |
OMIM:206700 |
Intellectual Developmental Disorder, X-Linked, Syndromic 32 |
|
Macroorchidism, Cardiomegaly |
OMIM:300886 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance, Hypotonia |
ORPHA:1875 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Cerebellar atrophy, Facial hypotonia, Small for gestational age, Inability to walk, Chorea, Cereb... |
ORPHA:404454 |
Flynn-Aird Syndrome |
|
Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis, Cerebral cortical atrophy |
ORPHA:2047 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia |
OMIM:141300 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Dystoni... |
OMIM:619725 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis, Small for gestational age |
ORPHA:85288 |
Pick Disease Of Brain |
|
Neuronal loss in central nervous system, Gliosis |
OMIM:172700 |
Mitochondrial Complex I Deficiency, Nuclear Type 36 |
|
Optic disc pallor, Perimembranous ventricular septal defect, Cardiomegaly |
OMIM:619170 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Tremor, Inability to walk, Brain atrophy, Infantile muscular hypotonia, Spasticity |
OMIM:618718 |
Immunodeficiency 11A |
|
Monocytopenia, Decreased proportion of CD4+CD25+ regulatory T cells |
OMIM:615206 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Bethlem Myopathy 2 |
|
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis |
OMIM:616471 |
Cardiomyopathy, Familial Hypertrophic, 27 |
|
Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy... |
OMIM:618052 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Tremor, Patent ductus arteriosus, Hypotonia, Pontocerebellar atrophy, Generalized hypoton... |
OMIM:608799 |
Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis, Generalized hypotonia |
OMIM:201550 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Chiari type I malforma... |
OMIM:618476 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... |
OMIM:618443 |
Riboflavin Transporter Deficiency |
|
Ataxia, Cachexia, Tremor, Hypotonia, Myoclonus, Cerebral cortical atrophy |
ORPHA:97229 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Kyphosis, Slurred speech, Hypotonia, Abnormal form of the vertebral bodies, Gait ... |
ORPHA:812 |
Immunodeficiency 97 With Autoinflammation |
|
Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cells, Eosinophilia, ... |
OMIM:619802 |
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome |
|
Impaired vibration sensation in the lower limbs, Gait ataxia, Spastic dysarthria, Progressive cer... |
ORPHA:95433 |
Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Cardiomegaly, Hypertrophic cardiomyopathy, Aortic val... |
ORPHA:85451 |
Xeroderma Pigmentosum, Complementation Group F |
|
Ataxia, Tremor, Brain atrophy, Scoliosis, Decreased body weight |
OMIM:278760 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Somatic sensory dysfunction, Tremor, Distal sensory impairment, Choreoathetosis, Steppage gait, G... |
ORPHA:206594 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Hypotonia, Ankle clonus, Falls, Gliosis, Difficulty walking, Dystonia |
OMIM:618222 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... |
OMIM:610217 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Impaired vibratory sensation, Tremor, Hypoesthesia, Obesity, Hemiparesis, Hypertonia, Scoliosis |
OMIM:619737 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Generalized hypotonia, Scoliosis... |
ORPHA:352490 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Hypotonia, Choreoathetosis, Gait disturb... |
ORPHA:765 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Generalized hypotonia, Scoliosis |
OMIM:615834 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Borjeson-Forssman-Lehmann Syndrome |
|
Kyphosis, Hypotonia, Obesity, Generalized hypotonia, Scoliosis, Scheuermann-like vertebral change... |
OMIM:301900 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Scoliosis |
OMIM:619797 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis |
OMIM:612164 |
Dystonia-Deafness Syndrome 1 |
|
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,... |
OMIM:607371 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Hypotonia, Scoliosis, Obesity |
ORPHA:276630 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Involuntary movements, Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Mohr-Tranebjaerg Syndrome |
|
Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Inability to walk, Babinski sign, Abnorm... |
ORPHA:52368 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Progressive extrapyramidal muscular rigidity, Parkinsonism, Chorea, Bab... |
ORPHA:225147 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Truncal ataxia, Dysmetria, Limb ataxia, Distal sensory impairm... |
OMIM:617675 |
4Q21 Microdeletion Syndrome |
|
Short neck, Tremor, Kyphosis, Hypotonia, Cerebellar hypoplasia, Scoliosis |
ORPHA:238750 |
Syngap1-Related Developmental And Epileptic Encephalopathy |
|
Ataxia, Tremor, Poor coordination, Hypotonia, Gait disturbance, Abnormality of pain sensation |
ORPHA:544254 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive |
ORPHA:100 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Hypotonia, Dysmetria, Atheto... |
OMIM:615273 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Axial hypotonia, Facial hypotonia, Cerebellar vermis hypoplasia, Kyphosis, Ba... |
ORPHA:364028 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Aceruloplasminemia |
|
Abnormal dentate nucleus morphology, Torticollis, Ataxia, Parkinsonism, Involuntary movements, Ak... |
ORPHA:48818 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Generalized hypotonia, Scoliosis, Frequent falls |
ORPHA:75840 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Dystonia, Hyperlordosis, Tremor, Kyphosis, Patent ductus arteriosus... |
ORPHA:354 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Tremor, Distal sensory impairment |
OMIM:607734 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Neurodegeneration, Spasticity |
ORPHA:803 |
46,Xy Sex Reversal 3 |
|
Penoscrotal hypospadias, Hypoplasia of the uterus, Sex reversal, Gonadal dysgenesis, Exaggerated ... |
OMIM:612965 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:614096 |
Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Hypotonia, Gliosis, Cerebellar hypoplasia, Failure to thrive |
ORPHA:261652 |
Congenital Toxoplasmosis |
|
Hepatomegaly, Thrombocytopenia, Anemia, Cardiomegaly |
ORPHA:858 |
Molybdenum Cofactor Deficiency, Complementation Group B |
|
Diffuse cerebral atrophy, Hypotonia, Spastic tetraplegia, Opisthotonus, Cerebral atrophy, Hyperto... |
OMIM:252160 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Axial hypotonia, Hypoplasia of the pons, Vocal cord paralysis, Myoclonus, Scoliosis, Dystonia, Sp... |
ORPHA:500144 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Rigidity, Hypotonia, Tetraparesis, Brain atrophy, ... |
OMIM:617186 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis... |
ORPHA:502423 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
|
Abnormally low T cell receptor excision circle level, Pancytopenia, Impaired neutrophil chemotaxi... |
OMIM:618986 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Cockayne Syndrome |
|
Cerebellar atrophy, Somatic sensory dysfunction, Axial hypotonia, Ataxia, Cachexia, Action tremor... |
ORPHA:191 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Hypoplasia of the pons, Dysmetria, Cerebel... |
OMIM:619708 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... |
ORPHA:98863 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Shuffling gait, Parkinso... |
OMIM:311510 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Infantile Sialic Acid Storage Disease |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:269920 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
Congenital Myopathy 8 |
|
Cardiomegaly |
OMIM:618654 |
Familial Cervical Artery Dissection |
|
Paresthesia, Paralysis |
ORPHA:36382 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neurodegeneration, Olivopont... |
OMIM:146500 |
Ectodermal Dysplasia-Syndactyly Syndrome 2 |
|
Cardiomegaly |
OMIM:613576 |
Wieacker-Wolff Syndrome |
|
Dystonia, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Cerebral atrophy, Generalized hypotonia... |
OMIM:314580 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Tremor, Hypotonia, Cerebral atrophy, Opisthotonus, Choreoathetosis, H... |
OMIM:616271 |
Sneddon Syndrome |
|
Tremor, Chorea, Hemiparesis |
ORPHA:820 |
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome |
|
Streak ovary, Abnormality of female external genitalia, Testicular dysgenesis, Hypoplasia of the ... |
ORPHA:168563 |
Progressive Multifocal Leukoencephalopathy |
|
Abnormal astrocyte morphology, Somatic sensory dysfunction, Weakness due to upper motor neuron dy... |
ORPHA:217260 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Cerebral atrophy, Head tremor, Atrophy... |
ORPHA:314404 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Kyphoscoliosis, Tremor, Inability to walk, Vocal cord paralysis, Distal sensory impairment, Poor ... |
ORPHA:99956 |
46,Xx Ovotesticular Difference Of Sex Development |
|
Bifid scrotum, Abnormal male internal genitalia morphology, Hypoplasia of penis, Small scrotum, H... |
ORPHA:2138 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Abnormal form of the vertebral bodies, G... |
ORPHA:475 |
Japanese Encephalitis |
|
Weakness due to upper motor neuron dysfunction, Paralysis, Tremor, Paucity of anterior horn motor... |
ORPHA:79139 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Dystonia, Ataxia, Cerebellar vermis hypoplasia, Short neck, Tr... |
OMIM:300966 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Vocal cord paralysis, Hypotonia |
OMIM:615490 |
Neuraminidase Deficiency |
|
Hepatomegaly, Bone-marrow foam cells, Cardiomegaly, Splenomegaly, Vacuolated lymphocytes, Cardiom... |
OMIM:256550 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Lower limb spasticity, Axial hypotonia, Short neck, Large for gestational age, Patent ductus arte... |
OMIM:300868 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Hyperlordosis, Kyphosis, Distal sensory impairment, Scoliosis |
OMIM:181405 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Hypoton... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Hypoton... |
ORPHA:98853 |
Ck Syndrome |
|
Hyperlordosis, Kyphosis, Generalized hypotonia, Scoliosis, Slender build |
OMIM:300831 |
Congenitally Uncorrected Transposition Of The Great Arteries |
|
Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon... |
ORPHA:860 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Parkinsonism, Gliosis, Apraxia, Neuronal loss in central nervous system, Cerebral cortical atrophy |
OMIM:607485 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Hypotonia, Myoclonus, Loss of ambul... |
OMIM:607426 |
Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis |
ORPHA:681 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Tremor, Ataxia, Blepharospasm, Myoclonus |
OMIM:607876 |
Molybdenum Cofactor Deficiency, Complementation Group A |
|
Spastic tetraparesis, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Abnormal muscle tone, ... |
OMIM:252150 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Limb dystonia, Spastic... |
OMIM:616840 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Scoliosis |
OMIM:300434 |
Familial Atrial Myxoma |
|
Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly |
ORPHA:615 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hyperlordosis, Inability to walk, Hypotonia, Gliosis, Hepatic periportal necrosis |
ORPHA:26791 |
Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis |
ORPHA:79327 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Atrial septal defect, Patent f... |
OMIM:618652 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Kyphosis, Obesity, Hyperlordosis |
ORPHA:3085 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Scoliosis, Oculomotor ... |
ORPHA:220497 |
Glioblastoma |
|
Glioblastoma multiforme, Paralysis |
ORPHA:360 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Axial hypotonia, Ataxia, Hypotonia, Cerebral atrophy, Gliosis, Generalized hy... |
OMIM:124000 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Arnold-Chiari Malformation Type I |
|
Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Chiar... |
ORPHA:268882 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with... |
OMIM:607060 |
Spongiform Encephalopathy With Neuropsychiatric Features |
|
Gliosis, Parkinsonism |
OMIM:606688 |
46,Xy Sex Reversal 11 |
|
Abnormal internal genitalia, Vanishing testis, Aplasia of the uterus, Gonadal dysgenesis with fem... |
OMIM:273250 |
Combined Oxidative Phosphorylation Deficiency 10 |
|
Pericardial effusion, Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:614702 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Cerebellar atrophy, Impaired vibratory sensation, Somatic sensory dysfunction, Tremor, Inability ... |
ORPHA:466768 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Hypotonia, Tip-toe gait, Scoliosis, Neonatal hypotonia, ... |
ORPHA:536516 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Short neck, Kyphosis, Generalized hypotonia, Failure to thrive, Global brain ... |
OMIM:608776 |
Proximal 16P11.2 Microduplication Syndrome |
|
Tremor, Hemivertebrae, Hypotonia, Scoliosis, Failure to thrive, Decreased body mass index |
ORPHA:370079 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive Romberg s... |
OMIM:105210 |
Caribbean Parkinsonism |
|
Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, P... |
ORPHA:97355 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Failure to thrive, Hypotonia, Scoliosis |
OMIM:618234 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Difficulty... |
ORPHA:90322 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis, Patent ductus arteriosus, Generalized hypotonia |
OMIM:618658 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Scoliosis, Oculomotor ... |
ORPHA:220493 |
Leydig Cell Hypoplasia |
|
Abnormal internal genitalia, Hypospadias, Abnormal external genitalia, Abnormal vas deferens morp... |
ORPHA:755 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Spasticity, Dystonia |
OMIM:304700 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Waddling gait, Kyphosis, Axonal degeneration |
OMIM:618138 |
Hemochromatosis, Type 1 |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Azoosper... |
OMIM:235200 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Hypotonia, Progressive spastic quadriplegia, Ab... |
ORPHA:521426 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis |
OMIM:618484 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Short neck, Kyphosis, Inability to walk, Generalized hypotonia, Scoliosis, Oculomotor apraxia, Br... |
OMIM:301041 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Tremor, Hypotonia, Dysmetria |
OMIM:615578 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Axial hypotonia, Cerebellar vermis hypopl... |
OMIM:615574 |
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Hyperlordosis, Kyphosis, Scoliosis, Neonatal hypotonia |
OMIM:255200 |
Alexander Disease |
|
Ataxia, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyramidal sign, Hyp... |
ORPHA:58 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... |
ORPHA:682 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Olivopontocer... |
OMIM:212065 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
O'Sullivan-Mcleod Syndrome |
|
Tremor, Atrophy of the spinal cord, Somatic sensory dysfunction, Fasciculations |
ORPHA:99965 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly |
OMIM:600649 |
Ovarian Dysgenesis 6 |
|
Hypoplasia of the uterus, Hypergonadotropic hypogonadism |
OMIM:618078 |
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion |
|
Broad-based gait, Ataxia, Tremor, Obesity, Myoclonus, Scoliosis, Infantile muscular hypotonia, Ga... |
ORPHA:98794 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Combined Oxidative Phosphorylation Deficiency 41 |
|
Anemia, Cardiomegaly |
OMIM:618838 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ... |
OMIM:300280 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Kleefstra Syndrome 2 |
|
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis |
OMIM:617768 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm... |
ORPHA:3092 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Generalized hypotonia |
OMIM:618512 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Vocal cord paralysis, Weight loss, Chiari type I malformation, Abnormality of the ce... |
ORPHA:221098 |
Triosephosphate Isomerase Deficiency |
|
Tremor, Kyphosis, Unsteady gait, Hypotonia, Cerebral atrophy, Generalized hypotonia, Dystonia, Sp... |
OMIM:615512 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Dystonia, Ataxia, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Hypotonia, Dys... |
OMIM:220111 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure |
|
Cerebellar atrophy, Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intent... |
OMIM:254900 |
Congenital Tricuspid Valve Dysplasia |
|
Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri... |
ORPHA:555874 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity |
OMIM:615084 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Obesity, Tip-toe g... |
ORPHA:98855 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Athetosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spas... |
OMIM:613454 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis, Hypotonia |
OMIM:620161 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Hypotonia, Periodic paralysis |
OMIM:170400 |
Hall-Riggs Syndrome |
|
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive |
OMIM:234250 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:2598 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 20 |
|
Hepatomegaly, Cardiomegaly |
OMIM:619064 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Ataxia, Severe muscular hypotonia, Poor motor coordination, Trem... |
ORPHA:25 |
Typhoid |
|
Tremor, Hypertonia, Ataxia |
ORPHA:99745 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Spinal rigidity, Kyphosis, Scoliosis, Neonatal hypotonia, Failure to thrive, Slender... |
OMIM:254090 |
Mulibrey Nanism |
|
Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly |
OMIM:253250 |
Pseudo-Torch Syndrome 3 |
|
Leukocytosis, Congenital thrombocytopenia, Anemia, Cardiomegaly |
OMIM:618886 |
46,Xy Sex Reversal 7 |
|
Streak ovary, Hypoplasia of the fallopian tube, Hypoplasia of the uterus, Sex reversal, Gonadobla... |
OMIM:233420 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis |
ORPHA:1545 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:1548 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... |
ORPHA:268261 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Mucopolysaccharidosis, Type Iiib |
|
Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly |
OMIM:252920 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Carnitine Deficiency, Systemic Primary |
|
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy |
OMIM:212140 |
D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Corpus callosum atrophy, Hypotonia, Gliosis, Neonatal hypotonia, Failure to t... |
OMIM:261515 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Cerebellar vermis hypoplasia, Severe muscular hypotonia, Kyphosis, Cerebellar hypo... |
OMIM:618291 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Parkinsonism, Tremor, Fasciculations, Difficulty walking, Frequent falls |
ORPHA:329478 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Den Hoed-De Boer-Voisin Syndrome |
|
Lower limb spasticity, Axial hypotonia, Ataxia, Tremor, Inability to walk, Overweight, Hypotonia,... |
OMIM:619229 |
Sickle Cell Disease |
|
Hepatomegaly, Hemolytic anemia, Cardiomegaly, Splenomegaly, Leukocytosis, Splenic infarction, Inc... |
OMIM:603903 |
Schaaf-Yang Syndrome |
|
Failure to thrive in infancy, Kyphosis, Inability to walk, Obesity, Scoliosis, Neonatal hypotonia |
OMIM:615547 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Hypotonia, Spastic tetraplegia, Anterior beaking of lumbar ver... |
ORPHA:349 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s... |
OMIM:115197 |
Partial Androgen Insensitivity Syndrome |
|
Bifid scrotum, Fused labia majora, Clitoral hypertrophy, Hypospadias, Bilateral cryptorchidism, P... |
ORPHA:90797 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Slender build, Hypotonia, Scoliosis |
OMIM:300676 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Hypotonia, Generalized hypotonia, Paralysis |
OMIM:612300 |
Spinal And Bulbar Muscular Atrophy, X-Linked 1 |
|
Tremor, Fasciculations |
OMIM:313200 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:619051 |
Complete Androgen Insensitivity Syndrome |
|
Abnormal uterine cervix morphology, Testicular neoplasm, Bilateral cryptorchidism, Blind vagina, ... |
ORPHA:99429 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Axial hypotonia, Ataxia, Small for gestational age, In... |
OMIM:617799 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
Cardiac-Urogenital Syndrome |
|
Bifid scrotum, Scimitar anomaly, Atrial septal defect, Micropenis, Mesocardia, Penoscrotal hyposp... |
OMIM:618280 |
Intellectual Developmental Disorder, X-Linked, Syndromic, 35 |
|
Ataxia, Tremor, Hypotonia, Gait ataxia, Lumbar scoliosis, Cerebellar hypoplasia, Generalized hypo... |
OMIM:300998 |
Micro Syndrome |
|
Cerebellar vermis hypoplasia, Kyphosis, Abnormal cerebellum morphology, Hypotonia, Scoliosis, Spa... |
ORPHA:2510 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Hypoton... |
OMIM:617527 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Gaucher Disease, Type Iiic |
|
Hepatomegaly, Mitral valve calcification, Pancytopenia, Cardiomegaly, Splenomegaly, Aortic valve ... |
OMIM:231005 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity |
ORPHA:352447 |
12Q14 Microdeletion Syndrome |
|
Tremor, Hypotonia, Chiari malformation, Scoliosis, Failure to thrive |
ORPHA:94063 |
Diethylstilbestrol Syndrome |
|
Hypospadias, Vaginal neoplasm, Abnormal reproductive system morphology, Cryptorchidism, Testicula... |
ORPHA:1916 |
Tick-Borne Encephalitis |
|
Back pain, Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongat... |
ORPHA:297 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Scol... |
OMIM:609029 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Hyperlordosis, Large for gestational age, Kyphosis, Hypotonia, Gait ataxia, S... |
OMIM:617011 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Premature Ovarian Failure 3 |
|
Hypoplasia of the uterus |
OMIM:608996 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Scoliosis |
ORPHA:85293 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Coronary Arterial Fistula |
|
Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac... |
ORPHA:2041 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... |
ORPHA:2203 |
Papillorenal Syndrome |
|
Chiari type I malformation, Gliosis, Scoliosis |
OMIM:120330 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis |
OMIM:130060 |
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome |
|
Cardiomegaly, Abnormal atrioventricular valve morphology, Mitral valve prolapse, Macroorchidism, ... |
ORPHA:324410 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Failure to thrive, Ataxia, Tremor, Rigidity, Gait ataxia, Cog... |
ORPHA:254892 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Mcdonough Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:2471 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Purine Nucleoside Phosphorylase Deficiency |
|
Ataxia, Tremor, Hypotonia, Spastic diplegia, Tetraparesis, Generalized hypotonia, Failure to thrive |
OMIM:613179 |
Joubert Syndrome With Hepatic Defect |
|
Cerebellar vermis hypoplasia, Ataxia, Aplasia/Hypoplasia of the cerebellum, Tremor, Hypotonia, Ga... |
ORPHA:1454 |
Typical Nemaline Myopathy |
|
Waddling gait, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Gait disturbance, Scoliosis,... |
ORPHA:171436 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypotonia, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral de... |
OMIM:230500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Axial hypotonia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent ductus arterios... |
OMIM:300967 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Hepatic periportal necrosis, Gliosis, Hypotonia |
OMIM:231680 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Niemann-Pick Disease Type C |
|
Tremor, Chorea, Abnormal pyramidal sign, Progressive gait ataxia, Limb dystonia, Intention tremor... |
ORPHA:646 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Cerebellar atrophy, Large for gestational age, Tremor, Patent ductus arteriosus, Hypotonia, Cereb... |
OMIM:614080 |
Hydatidiform Mole |
|
Enlarged uterus, Anemia |
ORPHA:99927 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Tremor, Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis |
OMIM:617061 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
46,Xx Sex Reversal 2 |
|
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, True hermaphroditism, Ovotestis, Perineal... |
OMIM:278850 |
Non-Functioning Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:94080 |
Poliomyelitis |
|
Paralysis, Inability to walk, Paraparesis, Hyperkinetic movements, Paresthesia, Fasciculations |
ORPHA:2912 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Hypotonia, Generalized hypotonia, Short neck |
OMIM:616455 |
Cantu Syndrome |
|
Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly |
OMIM:239850 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Mogs-Cdg |
|
Hepatomegaly, Absent brainstem auditory responses, External genital hypoplasia, Cardiomegaly, Opt... |
ORPHA:79330 |
Tetanus |
|
Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles |
ORPHA:3299 |
Timothy Syndrome |
|
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly |
OMIM:601005 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Metatropic Dysplasia |
|
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Long coccyx... |
OMIM:156530 |
Coffin-Lowry Syndrome |
|
Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Scolios... |
ORPHA:192 |
Alpha-N-Acetylgalactosaminidase Deficiency |
|
Cardiomegaly |
ORPHA:3137 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Tremor, Tip-toe gait, Gait disturbance, Decerebrate rigidity, Progressive... |
ORPHA:512 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Testicular Agenesis |
|
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Hypoplasia o... |
ORPHA:325124 |
Autosomal Dominant Optic Atrophy And Cataract |
|
Cerebellar atrophy, Resting tremor, Somatic sensory dysfunction, Extrapyramidal muscular rigidity... |
ORPHA:67036 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia, Failure to thrive |
OMIM:169400 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Obesity, Platyspondyly, Scoliosis,... |
OMIM:251450 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency |
|
Tremor, Ataxia |
ORPHA:713 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive |
ORPHA:476126 |
Isolated Right Ventricular Hypoplasia |
|
Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig... |
ORPHA:439 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Gait imbalance, Dystonia, Spasticity |
ORPHA:2828 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Hypotonia, Generalized hypotonia, S... |
OMIM:620351 |
Mullerian Aplasia And Hyperandrogenism |
|
Aplasia of the fallopian tube, Aplasia of the vagina, Abnormal external genitalia, Aplasia of the... |
OMIM:158330 |
Hsd10 Disease, Infantile Type |
|
Hypertrophic cardiomyopathy, Optic atrophy, Cardiomegaly |
ORPHA:391428 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Kyphosis, Hypotonia, Gait disturbance, Cerebellar hypoplasia, Generalized ... |
ORPHA:261349 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... |
OMIM:253010 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Gabriele-De Vries Syndrome |
|
Waddling gait, Facial hypotonia, Small for gestational age, Tremor, Hypotonia, Gliosis, Dystonia |
ORPHA:506358 |
Idiopathic Pulmonary Hemosiderosis |
|
Hepatosplenomegaly, Hepatomegaly, Iron deficiency anemia, Cardiomegaly |
ORPHA:99931 |
Hypogonadotropic Hypogonadism 12 With Or Without Anosmia |
|
Hypogonadotropic hypogonadism, Cryptorchidism, Hypoplasia of the uterus, Hypoplasia of the ovary,... |
OMIM:614841 |
Pyruvate Carboxylase Deficiency |
|
Ataxia, Tremor, Cerebellar gliosis, Abnormal pyramidal sign, Hypotonia, Tip-toe gait, Generalized... |
ORPHA:3008 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Micropenis, Hypertrophic cardiomyopathy |
OMIM:616897 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Facial hypotonia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... |
ORPHA:2131 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Dystonia, Tremor, Choreoathetosis, Myoclonus, Infan... |
ORPHA:1934 |
Aorta Coarctation |
|
Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe... |
ORPHA:1457 |
Heterotaxy, Visceral, 1, X-Linked |
|
Cardiomegaly, Asplenia, Dextrotransposition of the great arteries, Atrial septal defect, Atrioven... |
OMIM:306955 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Kyphosis, Hypo... |
ORPHA:457359 |
Wolfram Syndrome 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:222300 |
Cono-Spondylar Dysplasia |
|
Short neck, Kyphosis, Poor coordination, Hypotonia, Scoliosis, Failure to thrive |
ORPHA:420794 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Shashi-Pena Syndrome |
|
Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb h... |
OMIM:617190 |
Double Outlet Left Ventricle |
|
Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Cryptorchidism, Bicuspid p... |
ORPHA:3427 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv... |
ORPHA:508533 |
Dpagt1-Cdg |
|
Ataxia, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Hypertonia, Cerebell... |
ORPHA:86309 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Marden-Walker Syndrome |
|
Short neck, Kyphosis, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Scoliosis, Inferio... |
OMIM:248700 |
Trisomy 13 |
|
Kyphosis, Patent ductus arteriosus, Hypotonia, Chiari malformation, Scoliosis |
ORPHA:3378 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Incoordination, Ataxia, Tremor, Unsteady gait, Abnormal pyramidal sign, Hypotonia, Obesity |
OMIM:614947 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Hepatomegaly, Cardiomegaly |
ORPHA:42 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hypotonia, Platyspondyly |
ORPHA:2655 |
Orofaciodigital Syndrome Type 6 |
|
Cerebellar vermis hypoplasia, Ataxia, Tremor, Hypotonia, Gait disturbance, Generalized hypotonia,... |
ORPHA:2754 |
Gitelman Syndrome |
|
Failure to thrive, Ataxia, Paresthesia, Paralysis |
OMIM:263800 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Broad-based gait, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Appen... |
ORPHA:2072 |
15Q24 Microdeletion Syndrome |
|
Small for gestational age, Kyphosis, Hypotonia, Obesity, Scoliosis, Failure to thrive |
ORPHA:94065 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Refsum Disease, Classic |
|
Cardiomyopathy, Cardiomegaly |
OMIM:266500 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 2 |
|
Ataxia, Small for gestational age, Tremor, Hypotonia, Generalized hypotonia, Failure to thrive, I... |
OMIM:614052 |
Weaver Syndrome |
|
Kyphosis, Patent ductus arteriosus, Slurred speech, Hypotonia, Poor fine motor coordination, Hype... |
OMIM:277590 |
Alpha-Mannosidosis |
|
Kyphosis, Hypotonia, Scoliosis, Short neck |
ORPHA:61 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Vocal cord paralysis |
ORPHA:397744 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Failure to thrive, Ataxia |
OMIM:201100 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Generalized dystonia, Scoliosis |
ORPHA:79107 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
19P13.12 Microdeletion Syndrome |
|
Aplasia/Hypoplasia of the cerebellar vermis, Short neck, Kyphosis, Hypotonia, Obesity, Scoliosis |
ORPHA:254346 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Carnitine Palmitoyltransferase I Deficiency |
|
Hepatomegaly, Cardiomegaly |
OMIM:255120 |
Histiocytosis-Lymphadenopathy Plus Syndrome |
|
Hepatomegaly, Ventricular septal defect, Hypergonadotropic hypogonadism, Cardiomegaly, Splenomega... |
OMIM:602782 |
Tyrosinemia Type 2 |
|
Tremor, Ataxia |
ORPHA:28378 |
Pycnodysostosis |
|
Hyperlordosis, Overweight, Kyphosis, Chiari malformation, Spondylolysis, Scoliosis, Upper motor n... |
ORPHA:763 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Hypotonia, Scoliosis |
ORPHA:2479 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Ataxia, Tremor, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Scoliosis,... |
OMIM:612199 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
OMIM:617713 |
Diastrophic Dysplasia |
|
Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic cervical verte... |
ORPHA:628 |
Mayer-Rokitansky-Kuster-Hauser Syndrome |
|
Hypoplasia of the uterus, Aplasia of the vagina |
OMIM:277000 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple, Large for gestational age |
OMIM:618272 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Clark-Baraitser syndrome |
|
Kyphosis, Obesity, Scoliosis |
OMIM:300602 |
Cowden Syndrome 1 |
|
Kyphosis, Dysplastic gangliocytoma of the cerebellum, Scoliosis, Intention tremor |
OMIM:158350 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Ventricular hypertrophy, Hepatomegaly, Hemolytic anemia, Reticulocytosis, Anisocytosis, Cardiomeg... |
OMIM:618278 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
OMIM:201475 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Hypotonia |
OMIM:615433 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Obesity, Scoliosis, Short neck |
ORPHA:3191 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Hepatomegaly, Hypogonadotropic hypogonadism, Cardiomegaly, Splenomegaly, Cardiomyopathy, Testicul... |
ORPHA:465508 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Kyphosis, Unsteady gait, Obesity, Generalized hypotonia, Scoliosis |
OMIM:618493 |
Thanatophoric Dysplasia Type 2 |
|
Patent ductus arteriosus, Kyphosis, Platyspondyly, Hypotonia |
ORPHA:93274 |
Paramyotonia Congenita Of Von Eulenburg |
|
Neonatal hypotonia, Periodic hypokalemic paresis |
ORPHA:684 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Chiari mal... |
ORPHA:2789 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, Hypotonia, Hypertonia, Brain atrophy, Spasticity, Failure to thrive |
OMIM:616539 |
Sandhoff Disease |
|
Hepatosplenomegaly, Hepatomegaly, Orthostatic hypotension, Cardiomegaly |
OMIM:268800 |
Helsmoortel-Van Der Aa Syndrome |
|
Hyperlordosis, Hypotonia, Obesity, Truncal obesity, Gliosis, Scoliosis, Failure to thrive |
OMIM:615873 |
Arterial Calcification, Generalized, Of Infancy, 2 |
|
Right atrial enlargement, Cardiomegaly |
OMIM:614473 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
3C Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Hypotonia, Scoliosis, Aplasia/Hypoplasia of the cerebellum, ... |
ORPHA:7 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Infantile muscular hypotonia, Tho... |
ORPHA:15 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Paralysis |
ORPHA:83601 |
Renal And Mullerian Duct Hypoplasia |
|
Hydrocele testis, Anteriorly displaced urethral meatus, Aplasia of the uterus |
OMIM:266810 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, Abnormal curvature of the vertebral column, Hypertonia, Decreased body weight,... |
OMIM:619475 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Spasticity |
OMIM:616449 |
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy |
|
Cardiomyopathy, Optic atrophy, Cardiomegaly |
OMIM:619259 |
Craniofaciofrontodigital Syndrome |
|
Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ... |
ORPHA:363705 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Overweight, Kyphosis, Hypotonia, Gait disturbance, Scoliosis, Neonatal hypotonia, Failure to thrive |
ORPHA:500055 |
Beck-Fahrner Syndrome |
|
Ventricular septal defect, Cardiomegaly |
OMIM:618798 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Trisomy 20P |
|
Incoordination, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:261318 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis |
ORPHA:37553 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Short neck, Kyphosis, Patent ductus arteriosus, Hypotonia, Chiari type I malfor... |
OMIM:130720 |
Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Generalized hypotonia, Gliosis, Kyphoscoliosis |
OMIM:617403 |
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type |
|
Cardiomegaly |
OMIM:613320 |
Mgat2-Cdg |
|
Kyphosis, Patent ductus arteriosus, Hypotonia, Cerebellar hypoplasia, Generalized hypotonia, Scol... |
ORPHA:79329 |
Aicardi-Goutières Syndrome |
|
Extrapyramidal muscular rigidity, Axial hypotonia, Dystonia, Tremor, Hemiplegia/hemiparesis, Abno... |
ORPHA:51 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Cirrhotic Cardiomyopathy |
|
Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e... |
ORPHA:57777 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss |
ORPHA:142 |
Thrombocytopenia-Absent Radius Syndrome |
|
Thrombocytopenia, Abnormal cardiac septum morphology, Tetralogy of Fallot, Aplasia of the uterus |
ORPHA:3320 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ... |
ORPHA:1329 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck |
ORPHA:2522 |
Rift Valley Fever |
|
Back pain, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Distal 16P11.2 Microdeletion Syndrome |
|
Neonatal hypotonia, Kyphosis, Obesity |
ORPHA:261222 |
African Trypanosomiasis |
|
Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements, Akinesia, Pa... |
ORPHA:3385 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Patent ductus arteriosus, Hypotonia, Cerebral atrophy, Hypertonia, Generalized hy... |
OMIM:617248 |
Danon Disease |
|
Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card... |
OMIM:300257 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, Aplasia of the uterus |
OMIM:146255 |
Familial Aortic Dissection |
|
Cardiomegaly |
ORPHA:229 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2 |
|
Brachial plexus neuropathy, Right ventricular hypertrophy, Cardiomegaly |
ORPHA:268 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Distal Triplication 15Q |
|
Large for gestational age, Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Dandy-Walker... |
ORPHA:314588 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Obesity, Short neck |
ORPHA:3409 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Axial hypotonia, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis... |
OMIM:602535 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Harrod Syndrome |
|
Kyphosis, Failure to thrive, Cerebral cortical atrophy, Scoliosis |
ORPHA:2115 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
|
Septate vagina, Uterus didelphys, Abnormal heart morphology, Aplasia of the uterus, Vaginal atresia |
ORPHA:2237 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Small for gestational age, Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, ... |
ORPHA:93360 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Kyphosis, Hypotonia, Cerebral atrophy, Scoliosis, Difficulty walking, Spasticity |
ORPHA:464738 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Cerebral atrophy, Scoliosis, Infantile muscul... |
OMIM:301040 |
Lethal Congenital Contracture Syndrome 10 |
|
Hypoplasia of the thymus, Overriding aorta, Ventricular septal defect, Cardiomegaly |
OMIM:617022 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Gaucher Disease, Perinatal Lethal |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Thrombocytopenia, Hepatosplenomegaly, Anemia |
OMIM:608013 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Bifid scrotum, Hypospadias, Precocious puberty in females, Bilateral cryptorchidism, Ovarian cyst... |
ORPHA:90793 |
Naxos Disease |
|
Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega... |
OMIM:601214 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Cerebral atrophy, Gait disturbance, Failure to thrive |
OMIM:216400 |
Cockayne Syndrome B |
|
Ataxia, Cerebellar calcifications, Small for gestational age, Tremor, Kyphosis, Cerebral atrophy,... |
OMIM:133540 |
Lumbar Syndrome |
|
Bifid scrotum, Hypospadias, Bifid uterus, Cryptorchidism, Hypoplastic labia majora, Ambiguous gen... |
ORPHA:83628 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Ataxia, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Abnormality of... |
ORPHA:280 |
Brachyolmia Type 3 |
|
Kyphosis, Platyspondyly, Scoliosis, Short neck |
OMIM:113500 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:276621 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Cockayne Syndrome Type 3 |
|
Kyphosis, Unsteady gait, Astrocytosis, Scoliosis, Difficulty walking, Intention tremor, Brain atr... |
ORPHA:90324 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Tremor, Weight loss, Brain atrophy, Difficulty walking |
OMIM:164310 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Prader-Willi Syndrome |
|
Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gross motor coordination, O... |
OMIM:176270 |
Schwartz-Jampel Syndrome |
|
Abnormally ossified vertebrae, Cachexia, Short neck, Hyperlordosis, Kyphosis, Spinal rigidity, Ab... |
ORPHA:800 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic hypokalemic paresis, Scoliosis, Periodic paralysis |
OMIM:170390 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Patent ductus arteriosus, Kyphosis, Hypotonia, Platyspondyly |
ORPHA:1860 |
Atelis Syndrome 2 |
|
Patent ductus arteriosus, Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Chorea, Spasticity |
ORPHA:1855 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Mend Syndrome |
|
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia, Failure to thrive, Dandy-Walker ... |
OMIM:300960 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Glandular hypospadias, Cardiomegaly |
OMIM:620306 |
Camurati-Engelmann Disease |
|
Waddling gait, Ataxia, Cachexia, Hyperlordosis, Kyphosis, Abnormality of the vertebral column, Sc... |
ORPHA:1328 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Patent ductus arteriosus, S... |
OMIM:610443 |
Cantú Syndrome |
|
Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly |
ORPHA:1517 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment |
|
Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome... |
OMIM:620066 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:168558 |
Paternal Uniparental Disomy Of Chromosome 6 |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Precocious puberty, Cryptorchidism, Labial... |
ORPHA:96191 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Cowden Syndrome |
|
Ataxia, Kyphosis, Abnormal cerebellum morphology, Scoliosis, Failure to thrive |
ORPHA:201 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly |
OMIM:608836 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro... |
OMIM:261740 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Female external genitalia in individual with 46,XY karyotype, Cryptorchidism, Male pseudohermaphr... |
ORPHA:289548 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Tip-toe gait, Generalized hypotonia, Scoliosis, Failure to thrive |
OMIM:618050 |
Fountain Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3219 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Kyphosis, Hypotonia, Scoliosis |
OMIM:617143 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:404440 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:308552 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:261144 |
Congenital Disorder Of Glycosylation, Type It |
|
Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly |
OMIM:614921 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Bicuspid aortic valve, Cardiomegaly, Mitral valve prolapse, Atrial septal defect, Left ventricula... |
OMIM:245600 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Kyphosis, Hypotonia, Cerebral atrophy |
OMIM:619244 |
Mend Syndrome |
|
Sacral dimple, Kyphosis, Generalized hypotonia, Failure to thrive, Dandy-Walker malformation, Lim... |
ORPHA:401973 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis, Axial hypotonia |
OMIM:603387 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impaired temperature sensation, Kyphosis, Increased body weight, Abdominal obesity, Scoliosis, In... |
ORPHA:398069 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Small for gestational age, Kyphosis, Patent ductus arteriosus, Gait disturbance, Scoliosis, Failu... |
ORPHA:464311 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Failure to thrive, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Monosomy 9Q22.3 |
|
Short neck, Large for gestational age, Kyphosis, Hypotonia, Abnormality of the vertebral column, ... |
ORPHA:77301 |
Fucosidosis |
|
Splenomegaly, Hepatomegaly, Vacuolated lymphocytes, Cardiomegaly |
OMIM:230000 |
Developmental And Epileptic Encephalopathy 95 |
|
Cryptorchidism, Hepatomegaly, Cardiomegaly |
OMIM:618143 |
Zttk Syndrome |
|
Kyphosis, Patent ductus arteriosus, Hemivertebrae, Hypotonia, Cerebellar hypoplasia, Scoliosis, N... |
OMIM:617140 |
Lethal Acantholytic Erosive Disorder |
|
Cardiomyopathy, Cardiomegaly |
ORPHA:158687 |
Truncus Arteriosus |
|
Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo... |
ORPHA:3384 |
Arterial Calcification, Generalized, Of Infancy, 1 |
|
Dilated cardiomyopathy, Cardiomegaly |
OMIM:208000 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Myoclonus, Inf... |
ORPHA:3063 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly |
ORPHA:228308 |
Histiocytoid Cardiomyopathy |
|
Hepatomegaly, Ventricular septal defect, Cardiomegaly, Optic atrophy, Polycystic ovaries |
ORPHA:137675 |
Holt-Oram Syndrome |
|
Kyphosis, Patent ductus arteriosus, Scoliosis |
ORPHA:392 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis |
OMIM:617821 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Vocal cord paralysis, Weight loss |
ORPHA:29072 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Small for gestational age, Kyphosis, Patent ductus arteriosus, Gait disturbance, Scoliosis, Failu... |
ORPHA:464306 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis |
ORPHA:96169 |
Meckel Syndrome 14 |
|
Ambiguous genitalia, Aplasia of the uterus, Single ventricle |
OMIM:619879 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Vertebral compression fracture |
OMIM:219090 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly, Hypotonia |
OMIM:616294 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Overgrowth of external genitalia, Cardiomegaly, Cryptorchidism, Pancreatic hyperpla... |
OMIM:130650 |
Townes-Brocks Syndrome 2 |
|
Rectovaginal fistula, Hypospadias, Bifid uterus |
OMIM:617466 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Kyphosis, Scoliosis, Decreased body weight, Neonatal hypotonia |
OMIM:619005 |
Mucopolysaccharidosis Type 3 |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Optic atrophy, Abnormal aortic valve morphology, Abnorm... |
ORPHA:581 |
Absence Of The Pulmonary Artery |
|
Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect... |
ORPHA:980 |
Marden-Walker Syndrome |
|
Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Cerebellar hypoplasia, Scoliosis, Fai... |
ORPHA:2461 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Schinzel-Giedion Syndrome |
|
Sacrococcygeal teratoma, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Ependymoma, Vo... |
ORPHA:798 |
Glycogen Storage Disease Ii |
|
Splenomegaly, Hepatomegaly, Cardiomegaly |
OMIM:232300 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Congenital Tracheomalacia |
|
Ventricular septal defect, Cardiomegaly, Partial anomalous pulmonary venous return, Abnormal hear... |
ORPHA:95430 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Hypotonia, Scoliosis |
OMIM:619951 |
Mayer-Rokitansky-Küster-Hauser Syndrome |
|
Hypoplasia of the vagina, Aplasia of the uterus |
ORPHA:3109 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Paralysis |
ORPHA:18 |
Thrombocytopenia-Absent Radius Syndrome |
|
Ventricular septal defect, Eosinophilia, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Apla... |
OMIM:274000 |
Cohen Syndrome |
|
Failure to thrive in infancy, Kyphosis, Hypotonia, Obesity, Scoliosis |
ORPHA:193 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ... |
OMIM:607014 |
Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis |
OMIM:162300 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Chi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Sacral dimple, Small for gestational age, Hyperlordosis, Kyphosis, Hypotonia, Chi... |
ORPHA:363958 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Ogden Syndrome |
|
Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum... |
OMIM:300855 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
Osteogenesis Imperfecta |
|
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Vert... |
ORPHA:666 |
Aspartylglucosaminuria |
|
Kyphosis, Hypotonia, Spasticity, Cerebral atrophy, Platyspondyly, Spondylolysis, Scoliosis, Gener... |
OMIM:208400 |
Diets-Jongmans Syndrome |
|
Gliosis, Generalized hypotonia |
OMIM:618846 |
Familial Idiopathic Dilatation Of The Right Atrium |
|
Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial... |
ORPHA:1677 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:2215 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Cardiomegaly |
ORPHA:2463 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Failure to thrive, Scoliosis |
OMIM:617602 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis, Failure to thrive, Hypotonia |
OMIM:239000 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Impaired temperature sensation, Kyphosis, Hypo... |
ORPHA:536532 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Patent ductus arteriosus, Chiari malforma... |
ORPHA:955 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio... |
OMIM:265000 |
Oeis Complex |
|
Bifid uterus, Epispadias, Cryptorchidism, Ambiguous genitalia, female, Vesicovaginal fistula, Amb... |
OMIM:258040 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis, Cerebellar vermis hypoplasia |
OMIM:619123 |
Abetalipoproteinemia |
|
Hepatomegaly, Reticulocytosis, Acanthocytosis, Cardiomegaly, Anemia |
ORPHA:14 |
Williams Syndrome |
|
Tremor, Abnormal form of the vertebral bodies, Dysmetria, Vertebral segmentation defect, Spina bi... |
ORPHA:904 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis, Cerebral cortical atrophy |
ORPHA:251014 |
Alstrom Syndrome |
|
Kyphosis, Truncal obesity, Scoliosis |
OMIM:203800 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity |
OMIM:219080 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
Pontocerebellar Hypoplasia Type 7 |
|
Abnormal scrotal rugation, Cryptorchidism, Optic atrophy, Gonadal dysgenesis, Microphallus, Absen... |
ORPHA:284339 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Smith-Lemli-Opitz Syndrome |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hypotonia, Abnormal form of the vertebral bodies,... |
ORPHA:818 |
Mucopolysaccharidosis, Type Ii |
|
Kyphosis, Neurodegeneration, Short neck |
OMIM:309900 |
Mucolipidosis Ii Alpha/Beta |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney |
OMIM:252500 |
Noonan Syndrome 14 |
|
Kyphosis, Hypotonia, Short neck |
OMIM:619745 |
Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Decreased body weight |
OMIM:182210 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Gitelman Syndrome |
|
Failure to thrive, Paresthesia, Paralysis |
ORPHA:358 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Kyphosis, Hypotonia, Hypertonia, Scoliosis |
OMIM:619194 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Bifid uterus |
ORPHA:2736 |
Bohring-Opitz Syndrome |
|
Abnormal cardiac septum morphology, Optic atrophy, Cardiomegaly |
ORPHA:97297 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis |
OMIM:607015 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Spinal canal stenosis, Hypotonia, Fused cervical vertebrae, Vertebral... |
ORPHA:1724 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca... |
ORPHA:99125 |
Tropical Endomyocardial Fibrosis |
|
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Eosinophilia, Cardiomega... |
ORPHA:75565 |
Mucolipidosis Type Ii |
|
Axial hypotonia, Inability to walk, Kyphosis, Weight loss, Appendicular hypotonia |
ORPHA:576 |
1P36 Deletion Syndrome |
|
Kyphosis, Hemiplegia/hemiparesis, Patent ductus arteriosus, Hypotonia, Spinal canal stenosis, Obe... |
ORPHA:1606 |
Liver Disease, Severe Congenital |
|
Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Hypospadias, Cardiomegaly, Sple... |
OMIM:619991 |
Microphthalmia, Lenz Type |
|
Kyphosis, Scoliosis, Hyperlordosis |
ORPHA:568 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Fused labia majora, Abnormal external genitalia, Hypogonadotropic hypogonadism, Precocious pubert... |
ORPHA:90794 |
Tyrosinemia, Type I |
|
Failure to thrive, Periodic paralysis |
OMIM:276700 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Neurofibromatosis Type 1 |
|
Astrocytoma, Ataxia, Kyphosis, Paresthesia, Scoliosis |
ORPHA:636 |
Okamoto Syndrome |
|
Ventricular septal defect, Bifid uterus, Splenomegaly, Abnormal left ventricle morphology, Primum... |
ORPHA:2729 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... |
OMIM:143095 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb... |
OMIM:259770 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261250 |
Exstrophy-Epispadias Complex |
|
Bifid scrotum, Bifid uterus, Epispadias, Cryptorchidism, Cystocele, Penoscrotal transposition, Ab... |
ORPHA:322 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity |
OMIM:610489 |
Yunis-Varon Syndrome |
|
Ventricular septal defect, Hypospadias, Cardiomegaly, Cryptorchidism, Hypoplastic labia majora, C... |
ORPHA:3472 |
Familial Thoracic Aortic Aneurysm And Aortic Dissection |
|
Bicuspid aortic valve, Cardiomegaly |
ORPHA:91387 |
Classic Homocystinuria |
|
Kyphosis, Scoliosis, Hemiplegia/hemiparesis |
ORPHA:394 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Kyphosis, Patent ductus arteriosus, Hemivertebrae, Scoliosis |
OMIM:618223 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Hypotonia, Scoliosis |
OMIM:619557 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Hypotonia |
OMIM:616914 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Aplasia of the vagina, Aplasia of the uterus, Absent external genitalia |
OMIM:271520 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Left ventricular hypertrophy, Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly |
ORPHA:365 |
Stickler Syndrome |
|
Cachexia, Kyphosis, Hemiplegia/hemiparesis, Spinal canal stenosis, Abnormal form of the vertebral... |
ORPHA:828 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Cardiomegaly |
ORPHA:79280 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Sacral dimple, Short neck, Kyphosis, Patent ductus arteriosus, Scoliosis |
OMIM:616894 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Hypotonia, Scoliosis |
OMIM:619482 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Beckwith-Wiedemann Syndrome |
|
Hepatomegaly, Cardiomegaly, Splenomegaly, Cryptorchidism, Gonadoblastoma, Hypertrophic cardiomyop... |
ORPHA:116 |
Pineoblastoma |
|
Paralysis |
ORPHA:251909 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis |
OMIM:259730 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Aplasia of the vagina, Optic nerve hypoplasia, Aplasia of the uterus |
ORPHA:457284 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Kyphosis, Cachexia, Scoliosis |
ORPHA:1969 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Kyphosis, Hypotonia, Platyspondyly, Abnormality of the vertebral column, Subcortical cerebral atr... |
ORPHA:2273 |
Fanconi Anemia, Complementation Group L |
|
Anemia, Micropenis, Aplasia of the uterus |
OMIM:614083 |
Proteasome-Associated Autoinflammatory Syndrome 1 |
|
Hepatomegaly, Microcytic anemia, Cardiomegaly, Splenomegaly, Epididymitis, Thrombocytopenia |
OMIM:256040 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx |
OMIM:249420 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Kyphosis, Patent ductus arteriosus, Hypotonia, Gait ataxia, Scoliosis, Spina bifid... |
OMIM:135900 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Chromosome 17Q12 Deletion Syndrome |
|
Cryptorchidism, Ovarian cyst, Aplasia of the vagina, Aplasia of the uterus, Unicornuate uterus |
OMIM:614527 |
Oculocerebrorenal Syndrome Of Lowe |
|
Clonus, Kyphosis, Platyspondyly, Scoliosis, Neonatal hypotonia, Failure to thrive |
ORPHA:534 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Bifid uterus, Complete atrioventricular... |
OMIM:236680 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Cerebellar vermis hypoplasia, Astrocytoma, Tremor, Kyphosis, Patent duct... |
ORPHA:821 |
Phocomelia, Schinzel Type |
|
Cryptorchidism, Hypoplasia of penis, Aplasia of the uterus |
ORPHA:2879 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Marfan Syndrome |
|
Cachexia, Kyphosis, Hypotonia, Scoliosis, Slender build, Spondylolisthesis |
ORPHA:558 |
17Q11 Microdeletion Syndrome |
|
Abnormal central motor function, Glioma, Cerebellar glioma, Kyphosis, Abnormality of the vertebra... |
ORPHA:97685 |
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome |
|
Abnormal reproductive system morphology, Bifid uterus |
ORPHA:1521 |
Ehlers-Danlos Syndrome, Vascular Type |
|
Cryptorchidism, Cystocele, Mitral valve prolapse, Cervical insufficiency, Uterine rupture, Uterin... |
OMIM:130050 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Acromegaly |
|
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
|
Kyphosis, Cerebral palsy, Paresthesia, Spinal canal stenosis |
ORPHA:314769 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis, Patent ductus arteriosus |
OMIM:153400 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Wolf-Hirschhorn Syndrome |
|
Accessory spleen, Ventricular septal defect, Hypospadias, Precocious puberty, Cryptorchidism, Apl... |
OMIM:194190 |
Primrose Syndrome |
|
Ataxia, Kyphosis, Hypotonia, Irregular vertebral endplates, Truncal obesity, Posterior scalloping... |
OMIM:259050 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Ramon Syndrome |
|
Kyphosis, Scoliosis, Decreased body weight |
OMIM:266270 |
Townes-Brocks Syndrome 1 |
|
Bifid scrotum, Rectoperineal fistula, Ventricular septal defect, Hypospadias, Bifid uterus, Crypt... |
OMIM:107480 |
Neu-Laxova Syndrome 1 |
|
Ventricular septal defect, Bifid uterus, Cryptorchidism, Transposition of the great arteries, Pat... |
OMIM:256520 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Limb-Mammary Syndrome |
|
Aplasia of the uterus, Aplasia of the ovary |
ORPHA:69085 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Neonatal hypotonia, Failure to thrive |
OMIM:309000 |
Coffin-Lowry Syndrome |
|
Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Decreased body weight |
OMIM:303600 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Hypotonia, Scoliosis |
ORPHA:2658 |
Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2911 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Hypotonia, Scoliosis |
ORPHA:198 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:99413 |
Mosaic Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:99228 |
Monosomy X |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:99226 |
Turner Syndrome |
|
Failure to thrive in infancy, Short neck, Kyphosis, Obesity, Scoliosis |
ORPHA:881 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly |
OMIM:304150 |
Wrinkly Skin Syndrome |
|
Kyphosis, Failure to thrive, Hypotonia, Scoliosis |
OMIM:278250 |
Singleton-Merten Syndrome 1 |
|
Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis... |
OMIM:182250 |
Generalized Arterial Calcification Of Infancy |
|
Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly |
ORPHA:51608 |
Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Small for gestational age, Anterior concavity of thoracic vertebrae... |
OMIM:216340 |
Vascular Ehlers-Danlos Syndrome |
|
Abnormal heart valve morphology, Hypospadias, Cryptorchidism, Cystocele, Mitral valve prolapse, U... |
ORPHA:286 |
Proteus Syndrome |
|
Kyphosis, Cachexia, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:744 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Small scrotum, Hypospadias, Cryptorchidism, Anteriorly displaced genitalia, Aplasia of the uterus |
OMIM:276820 |
Viss Syndrome |
|
Kyphosis, Patent ductus arteriosus, Hypotonia, Scoliosis, Failure to thrive, Butterfly vertebrae |
OMIM:619472 |
Branchiooculofacial Syndrome |
|
Hyperlordosis, Agenesis of cerebellar vermis, Kyphosis, Short neck |
OMIM:113620 |
Norrie Disease |
|
Cryptorchidism, Optic atrophy, Uterine rupture |
ORPHA:649 |
Pallister-Killian Syndrome |
|
Small scrotum, Ventricular septal defect, Hypospadias, Cryptorchidism, Hypoplastic labia majora, ... |
OMIM:601803 |
Loeys-Dietz Syndrome |
|
Uterine rupture |
ORPHA:60030 |
Alström Syndrome |
|
Thoracic scoliosis, Incoordination, Ataxia, Somatic sensory dysfunction, Kyphosis, Obesity, Poor ... |
ORPHA:64 |
Genetic Steroid-Resistant Nephrotic Syndrome |
|
|
ORPHA:656 |