Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Mononeuropathy Of The Median Nerve, Mild |
|
Peripheral axonal neuropathy |
OMIM:613353 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Neurodegeneration Due To Cerebral Folate Transport Deficiency |
|
Neurodegeneration |
OMIM:613068 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... |
OMIM:606482 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Impaired distal vibrat... |
OMIM:614436 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Spinocerebellar Ataxia, X-Linked 2 |
|
Ataxia, Abnormality of extrapyramidal motor function |
OMIM:302600 |
Ataxia-Oculomotor Apraxia Type 1 |
|
Ataxia, Gait disturbance |
ORPHA:1168 |
Optic Atrophy 2 |
|
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy |
OMIM:311050 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Peripheral axonal degeneration, In... |
OMIM:302800 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 4 |
|
Cerebellar atrophy, Corpus callosum atrophy, Inability to walk, Truncal ataxia, Cerebral cortical... |
OMIM:615268 |
Posterior Column Ataxia |
|
Impaired vibratory sensation, Ataxia, Impaired proprioception |
OMIM:176250 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Attention Deficit-Hyperactivity Disorder |
|
Hyperactivity, Attention deficit hyperactivity disorder |
OMIM:143465 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Vocal cord paralysis, Difficulty walking |
OMIM:158580 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Myasthenic Syndrome, Congenital, 18 |
|
Fatigable weakness, Ataxia, Difficulty walking |
OMIM:616330 |
Myasthenic Syndrome, Congenital, 15 |
|
Fatigable weakness, Frequent falls, Difficulty walking |
OMIM:616227 |
Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Gait ataxia, Cerebellar vermis atrophy |
OMIM:616410 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis |
OMIM:608634 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Waddling gait, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission, Fa... |
ORPHA:353327 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Paralysis, Babinski sign, Limb ataxia, Progressi... |
ORPHA:101112 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
Huntington Disease-Like 2 |
|
Caudate atrophy, Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance, Cere... |
ORPHA:98934 |
Spastic Paraplegia 72, Autosomal Recessive |
|
Ataxia, Spastic paraplegia, Impaired vibration sensation in the lower limbs, Babinski sign, Hoffm... |
OMIM:615625 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... |
ORPHA:803 |
Diaminopentanuria |
|
Neurodegeneration, Spasticity, Ataxia |
OMIM:222350 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait |
OMIM:613227 |
Cerebral Palsy, Ataxic, Autosomal Recessive |
|
Cerebellar atrophy, Broad-based gait, Cerebral palsy, Dysdiadochokinesis |
OMIM:605388 |
Autosomal Spastic Paraplegia Type 30 |
|
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Unsteady gait, Scissor gait, Babinski... |
ORPHA:101010 |
Spinocerebellar Ataxia Type 30 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia |
ORPHA:211017 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Dystonia, Ataxia, Tremor, Decreased number of... |
OMIM:208920 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Tetraplegia, Hand tr... |
OMIM:604484 |
Spinocerebellar Ataxia 43 |
|
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Cerebellar vermis ... |
OMIM:617018 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Spinocerebellar Ataxia 38 |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degene... |
OMIM:615957 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
Spinocerebellar Ataxia 40 |
|
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Pontocereb... |
OMIM:616053 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Athetosis, Axonal loss, Dystonia |
OMIM:300857 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Episodic Ataxia, Type 1 |
|
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait |
OMIM:160120 |
Autosomal Recessive Spastic Paraplegia Type 32 |
|
Progressive spastic paraplegia, Babinski sign, Impaired vibration sensation in the lower limbs, A... |
ORPHA:171622 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Paralysis, Decreased number of large peripheral myelin... |
OMIM:605285 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Clonus, Axonal degeneration, Falls, Tongue fasciculations, Failure to thrive |
OMIM:618811 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Failure to thrive in infancy, Decreased nerve conduction velocity, Decreased number of large peri... |
ORPHA:90103 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Spinocerebellar Ataxia 37 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Frequent falls |
OMIM:615945 |
Spinocerebellar Ataxia 45 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia |
OMIM:617769 |
Porphyria, Acute Hepatic |
|
Failure to thrive, Respiratory paralysis, Paresthesia, Paralysis |
OMIM:612740 |
Schizophrenia 15 |
|
Hyperactivity |
OMIM:613950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Spinocerebellar Ataxia Type 15/16 |
|
Cerebellar atrophy, Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anato... |
ORPHA:98769 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Peripheral axonal neuropathy, Paralysis, Distal sensory impairment, Talipes equinovarus, Difficul... |
OMIM:613710 |
Spinocerebellar Ataxia Type 38 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Tremor, Gait ataxia, Difficulty walking |
ORPHA:423296 |
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Spasticity |
OMIM:611105 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
Spinocerebellar Ataxia Type 31 |
|
Cerebellar atrophy, Impaired vibratory sensation, Tremor, Gait ataxia, Spasticity |
ORPHA:217012 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
ORPHA:98856 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Myasthenic Syndrome, Congenital, 13 |
|
Fatigable weakness, Scoliosis |
OMIM:614750 |
Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, ... |
OMIM:613908 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Clonus, Opisthotonus, Spastic dysarthria, Hypertonia, Spasticity of facial muscles, Abnormal lowe... |
OMIM:205100 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells |
ORPHA:65684 |
Spinocerebellar Ataxia 31 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait ataxia |
OMIM:117210 |
Neurodevelopmental Disorder With Cerebellar Atrophy And Motor Dysfunction |
|
Cerebellar atrophy, Inability to walk, Ataxia |
OMIM:619333 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, Gait disturbance, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Spinocerebellar Ataxia Type 23 |
|
Babinski sign, Impaired distal vibration sensation, Impaired proprioception, Limb ataxia, Dysmetr... |
ORPHA:101108 |
22q13 deletion syndrome (Phelan-Mcdermid syndrome) |
|
Hyperactivity |
DECIPHER:20 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Axonal degeneration, Distal sensory impairment, Steppage gait, Gait disturbance, Talipes equinovarus |
OMIM:616155 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia, Cerebellar hypoplasia |
OMIM:213000 |
Intellectual Developmental Disorder, Autosomal Dominant 33 |
|
Hyperactivity, Scoliosis |
OMIM:616311 |
Myasthenic Syndrome, Congenital, 5 |
|
Hyperlordosis, Decreased size of nerve terminals, Prolonged miniature endplate currents, Fatigabl... |
OMIM:603034 |
Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Myo... |
OMIM:600143 |
Spinocerebellar Ataxia Type 37 |
|
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... |
ORPHA:363710 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, Fatigable w... |
ORPHA:1320 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:607706 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Chorea, Split ... |
OMIM:604168 |
Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmet... |
OMIM:616948 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Facial palsy, Tremor, Degeneration of anterior horn cells, Tongue fasciculations, Scoliosis, Myoc... |
OMIM:159950 |
Episodic Ataxia, Type 8 |
|
Episodic ataxia, Slurred speech, Ataxia, Intention tremor |
OMIM:616055 |
Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... |
OMIM:614561 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Impaired vibrat... |
ORPHA:88628 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Paresis of extensor muscles of the big... |
ORPHA:99947 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal cerebellum mor... |
ORPHA:98762 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Inability to walk, Chorea, Abnormal pyramidal... |
OMIM:617672 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Neurodegeneration |
OMIM:610951 |
Ataxia With Fasciculations |
|
Ataxia, Fasciculations |
OMIM:108700 |
Spastic Ataxia-Corneal Dystrophy Syndrome |
|
Spastic ataxia, Ataxia, Hemiplegia/hemiparesis, Optic atrophy, Gait disturbance, Spinocerebellar ... |
ORPHA:2572 |
Peripheral Neuropathy, Ataxia, Focal Necrotizing Encephalopathy, And Spongy Degeneration Of Brain |
|
Cerebral degeneration, Ataxia |
OMIM:260970 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Inability to walk, Babinski sign, Spastic paraplegia, Ankle clon... |
OMIM:611225 |
Spinocerebellar Ataxia 30 |
|
Cerebellar atrophy, Ataxia |
OMIM:613371 |
Infantile-Onset Autosomal Recessive Nonprogressive Cerebellar Ataxia |
|
Cerebellar atrophy, Broad-based gait, Babinski sign, Dysmetria, Clumsiness, Progressive cerebella... |
ORPHA:284332 |
Spinocerebellar Ataxia 18 |
|
Cerebellar atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait ataxia... |
OMIM:607458 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progre... |
ORPHA:248111 |
Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Cerebellar atrophy, Torticollis, Peripheral axonal neuropathy, Ataxia, Tremor, Babinski sign, Abn... |
OMIM:607317 |
Episodic Ataxia With Slurred Speech |
|
Tremor, Slurred speech, Gait ataxia |
ORPHA:401953 |
Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Cerebellar atrophy, Tremor, Unsteady gait, Babinski sign, Limb ataxia, Ankle clonus, Cerebellar h... |
OMIM:615768 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Gait ataxia, Fasciculations, Dystonia, Spasticity, Sensory axonal neuropathy |
ORPHA:309169 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Degeneration of anterior horn cells, Limb fasciculations, Tongue fasciculations, Los... |
OMIM:253400 |
Spinocerebellar Ataxia Type 40 |
|
Broad-based gait, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Pontocerebellar atro... |
ORPHA:423275 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... |
ORPHA:71277 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paralysis |
OMIM:158590 |
X-Linked Progressive Cerebellar Ataxia |
|
Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysarthria, Limb ataxia, Progressive... |
ORPHA:1175 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Gait di... |
OMIM:600116 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paraparesis,... |
OMIM:105550 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Small for gestational age, Camptodactyly of finger, Decreased ner... |
OMIM:604320 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Potocki-Lupski syndrome (17p11.2 duplication syndrome) |
|
Hyperactivity |
DECIPHER:19 |
Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gai... |
OMIM:618093 |
Spinocerebellar Ataxia 23 |
|
Cerebellar atrophy, Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sen... |
OMIM:610245 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology |
DECIPHER:31 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Gait disturbance, Degeneration of the... |
OMIM:609161 |
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Tremor, Chorea, Unsteady gait, Hemiballismus, Brain atrophy, Frequent falls |
ORPHA:494526 |
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2 |
|
Cerebellar atrophy, Atrophy of the dentate nucleus, Broad-based gait, Short palm, Ataxia, Tremor,... |
OMIM:610185 |
Spinocerebellar Ataxia 11 |
|
Cerebellar atrophy, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Gait imbalance, Trun... |
OMIM:604432 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Lower limb spasticity, Amyotrophic lateral sclerosis, Bab... |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:254210 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Peripheral axonal neuropathy, Axonal degeneration, Diaphragmatic paralysis, Talipes equinovarus, ... |
OMIM:620011 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Scoliosis, Facial palsy, Decreased miniature endplate potentials |
OMIM:608930 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Axial dystonia, Lower limb spasticity, Amyotrophic lateral sclerosis, Dystonia, Ataxia, Clonus, P... |
ORPHA:300605 |
Intellectual Developmental Disorder, Autosomal Recessive 37 |
|
Hyperactivity, Bruxism, Aggressive behavior |
OMIM:615493 |
Epilepsy, Progressive Myoclonic, 1B |
|
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus, Sensory axonal neuropathy |
OMIM:612437 |
Intellectual Developmental Disorder, Autosomal Recessive 3 |
|
Hyperactivity |
OMIM:608443 |
Dystonia 23 |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Gait disturbance, Myoclonus, Hea... |
OMIM:614860 |
Ravine Syndrome |
|
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Abnormal brainstem morphology, At... |
ORPHA:99852 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal ... |
OMIM:618387 |
Neurodegeneration With Brain Iron Accumulation 8 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation |
OMIM:617917 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Postural tremor, Abnormal pyramidal sign, Fasciculations, Loss of ... |
OMIM:608627 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Impaired vibratory sensation, Peripheral axonal degeneration, Impaired distal proprioception, Dec... |
ORPHA:101097 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Lower limb spasticity, Aplasia/Hypoplasia of the cerebellar vermis, Babinski sign, Limb tremor, C... |
ORPHA:401820 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Generalized hypotonia due to defect at the neuromuscular junction, Decreased miniature endplate p... |
OMIM:605809 |
X-Linked Non Progressive Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Babinski sign, Unsteady gait, Clumsiness, Spastic dysarthria, Cereb... |
ORPHA:314978 |
Migraine, Familial Hemiplegic, 1 |
|
Cerebellar atrophy, Ataxia, Tremor, Hemiparesis, Hemiplegia |
OMIM:141500 |
Spinocerebellar Ataxia, Autosomal Recessive 25 |
|
Babinski sign, Ataxia, Dysmetria, Truncal ataxia |
OMIM:617584 |
Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Torticollis, Babinski sign, Limb ataxia, Dysmetria, Gait ataxia, Progressive ... |
ORPHA:276193 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Fatigable weakness, Decreased size of nerve terminals, Prolonged miniature endplate currents |
OMIM:601462 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Facial diplegia, Cerebral atrophy, Paralysis |
OMIM:616286 |
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Babinski sign, Gait ataxia, Abnorma... |
OMIM:615362 |
Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Cerebral atrophy, Spinocere... |
OMIM:617916 |
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome |
|
Hyperactivity, Bruxism, Aggressive behavior |
ORPHA:356996 |
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic p... |
OMIM:612319 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal substantia nigra morphology, Postural tremor, Parkinsonism, Kinetic tremor, Olivopontoce... |
ORPHA:98756 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Cranial nerve compression, Abnormal ... |
ORPHA:52430 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Spinocerebellar Ataxia 12 |
|
Cerebellar atrophy, Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdi... |
OMIM:604326 |
Spastic Ataxia 2, Autosomal Recessive |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetri... |
OMIM:611302 |
Epilepsy, Progressive Myoclonic, 11 |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Ataxia, Rigidity, Myoclonus, Giant somatosensor... |
OMIM:618876 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Decreased nerve conduction velocity, Kyphosis, Axonal degeneration, Waddling gait |
OMIM:618138 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Hypertrophic nerve changes, Abnormal motor neuron morphology |
DECIPHER:29 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Impaired vibratory sensation, Resting tremor, Peripheral axonal neuropathy, A... |
OMIM:617225 |
Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Vocal cord paralysis |
OMIM:607641 |
Myoclonus, Familial, 1 |
|
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor |
OMIM:614937 |
Intellectual Developmental Disorder, Autosomal Recessive 54 |
|
Exaggerated startle response, Attention deficit hyperactivity disorder |
OMIM:617028 |
Spinocerebellar Ataxia, Autosomal Recessive 6 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Clumsiness, Gait ataxia, Spasticity, Intention tremor |
OMIM:608029 |
Epilepsy, Progressive Myoclonic 7 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus |
OMIM:616187 |
Lichtenstein-Knorr Syndrome |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis, Cerebellar v... |
OMIM:616291 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dystonia, Ce... |
ORPHA:521406 |
Spinocerebellar Ataxia, X-Linked 1 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormality of extrapyramidal motor function, Intentio... |
OMIM:302500 |
Leukoencephalopathy, Progressive, With Ovarian Failure |
|
Cerebellar atrophy, Ataxia, Babinski sign, Hand tremor, Neurodegeneration, Apraxia, Spasticity |
OMIM:615889 |
Spinocerebellar Ataxia 20 |
|
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor |
OMIM:608687 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Impa... |
ORPHA:137898 |
Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Falls, Shuffl... |
ORPHA:306692 |
Charcot-Marie-Tooth Disease Type 4A |
|
Limited interphalangeal movement, Impaired distal proprioception, Decreased nerve conduction velo... |
ORPHA:99948 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hypo... |
OMIM:162500 |
Neurodevelopmental Disorder With Absent Speech And Movement And Behavioral Abnormalities |
|
Ataxia, Tremor, Obesity, Cerebellar hypoplasia, Limb dystonia, Bilateral coxa valga |
OMIM:620270 |
Peroxisome Biogenesis Disorder 8B |
|
Clonus, Dysmetria, Gait ataxia, Hypertonia, Loss of ambulation, Ataxia, Limb tremor, Brain atroph... |
OMIM:614877 |
Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Dilated fourth ventricle, Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, ... |
OMIM:213200 |
Spinocerebellar Ataxia Type 14 |
|
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... |
ORPHA:98763 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 11 |
|
Dilated fourth ventricle, Torticollis, Ataxia, Small for gestational age, Babinski sign, Choreoat... |
OMIM:619054 |
Smith-Magenis syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation |
DECIPHER:8 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Fatigable weakness, Frequent falls |
OMIM:618197 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Impa... |
OMIM:300423 |
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Tremor, Hypoplasia of the brainstem, Myoclonus, Dystonia, Failure to thrive |
OMIM:619651 |
Spastic Paraplegia 30, Autosomal Dominant |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Spastic paraplegia, Babinski sign, Dysmetria, ... |
OMIM:610357 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Facial-... |
ORPHA:276244 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait... |
ORPHA:95434 |
Neuroectodermal Melanolysosomal Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Subcortical cerebral atrophy, Hypertonia, Cerebral corti... |
ORPHA:33445 |
Optic Atrophy 3, Autosomal Dominant |
|
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function |
OMIM:165300 |
Spastic Paraplegia 79B, Autosomal Recessive |
|
Impaired vibratory sensation, Lower limb spasticity, Cerebellar atrophy, Ataxia, Postural tremor,... |
OMIM:615491 |
Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Tetraparesis, Myoclonus, Dystonia, Spa... |
OMIM:615924 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Rigidity, Spastic tetraplegia, Bradykinesia, Tip-toe gait, Gait disturbance, Neurodegeneration, S... |
OMIM:615643 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:180800 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Vocal cord paralysis, Paresthesia |
ORPHA:640 |
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Cerebellar vermis hypoplasia, Tremor, Inability to walk, Rigidity, Dysmetria,... |
OMIM:618090 |
Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Limb tremor, Dysmetri... |
OMIM:256731 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... |
OMIM:128230 |
Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... |
ORPHA:216873 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Kyphosis, I... |
OMIM:616756 |
Spinal Muscular Atrophy, Jokela Type |
|
Tremor, Distal sensory impairment, Hammertoe, Fasciculations, Difficulty walking |
OMIM:615048 |
Segawa Syndrome, Autosomal Recessive |
|
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... |
OMIM:605407 |
Intellectual Developmental Disorder, X-Linked 111 |
|
Hyperactivity, Kyphoscoliosis, Aggressive behavior, Phonic tics, Compulsive behaviors, Dystonia |
OMIM:301107 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Facial palsy, Decreased size of nerve terminals, Fatigable weakness of n... |
ORPHA:98913 |
Adult Neuronal Ceroid Lipofuscinosis |
|
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... |
ORPHA:79262 |
Spinocerebellar Ataxia Type 27 |
|
Cerebellar atrophy, Akinesia, Tremor, Limb ataxia, Gait ataxia, Hand tremor, Gait disturbance, Di... |
ORPHA:98764 |
Spinocerebellar Ataxia, Autosomal Recessive 14 |
|
Cerebellar atrophy, Unsteady gait, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Intent... |
OMIM:615386 |
Behr Syndrome |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Optic atrophy, Babinski sign, Dysmetria, Gait ... |
OMIM:210000 |
Tuberculosis |
|
Weight loss |
ORPHA:3389 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Gait apraxia, Ba... |
OMIM:615157 |
X-Linked Charcot-Marie-Tooth Disease Type 3 |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... |
ORPHA:101077 |
Urocanase Deficiency |
|
Broad-based gait, Ataxia, Dysmetria, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:276880 |
Mental Retardation With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Tremor, Spastic paraplegia |
OMIM:309560 |
Huntington Disease |
|
Caudate atrophy, Dystonia, Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Ba... |
ORPHA:399 |
Spinocerebellar Ataxia, Autosomal Recessive 17 |
|
Cerebellar atrophy, Broad-based gait, Cerebellar vermis hypoplasia, Ataxia, Dystonia, Unsteady ga... |
OMIM:616127 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Cerebellar atrophy, Dilated fourth ventricle, Ataxia, Tremor, Inability to walk, Abnormal pyramid... |
OMIM:614831 |
Leukodystrophy, Hypomyelinating, 11 |
|
Cerebellar atrophy, Ataxia, Tremor, Myoclonus, Spasticity, Failure to thrive |
OMIM:616494 |
Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Tremor, Motor conduction block, Choreoathetosis, Axona... |
ORPHA:206594 |
Autosomal Recessive Cerebellar Ataxia-Psychomotor Delay Syndrome |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Limb ataxia, Gait disturbance, Truncal ataxia |
ORPHA:284271 |
Van Den Bosch Syndrome |
|
Unfavorable response of muscle weakness to acetylcholine esterase inhibitors |
ORPHA:3417 |
Spinocerebellar Ataxia 7 |
|
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... |
OMIM:164500 |
Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls |
OMIM:616921 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells, Tongue fasciculations, Hand tremor, Waddling gait |
OMIM:271150 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia,... |
OMIM:617145 |
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction |
ORPHA:401901 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Peripheral axonal neuropathy, Decreased number of large peripheral myelinated ... |
OMIM:617087 |
Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, Tongue fasciculations, Fas... |
OMIM:607596 |
Autosomal Spastic Paraplegia Type 58 |
|
Cerebellar atrophy, Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal ... |
ORPHA:397946 |
Spinocerebellar Ataxia Type 17 |
|
Cerebellar atrophy, Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Writer's ... |
ORPHA:98759 |
Chronic Inflammatory Demyelinating Polyneuropathy |
|
Segmental peripheral demyelination/remyelination, Fatiguable weakness of proximal limb muscles, D... |
ORPHA:2932 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Axonal degeneration |
OMIM:162100 |
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Clonus, Impaired pain sensation, Abnormal spinal cord ... |
ORPHA:139578 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Poor coordination, Axonal degeneration, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait di... |
ORPHA:314632 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic ataxia, Lower limb spasticity, Tremor, Babinski sign, Impaired vibration sensation in the... |
ORPHA:251282 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gai... |
ORPHA:157941 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Peripheral axonal neuropathy, Ataxia |
OMIM:619099 |
Intellectual Developmental Disorder, X-Linked 109 |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
OMIM:309548 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Facial palsy, Decreased compound muscle action potential amplitude, Degeneration of anterior horn... |
OMIM:301830 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Dystonia, Postural tremor, Loss of Purkinje cells in the cerebellar vermis, C... |
ORPHA:98755 |
Spastic Paraplegia 79A, Autosomal Dominant, With Ataxia |
|
Impaired vibratory sensation, Lower limb spasticity, Peripheral axonal neuropathy, Optic atrophy,... |
OMIM:620221 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:607734 |
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Tremor, Kinetic tremor, Gait disturbance |
OMIM:611808 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Dystonia, Spasticity, G... |
OMIM:616811 |
Infantile Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Ataxia, Increased neuronal autofluorescent lipopigment, Tremor, Chorea, Unste... |
ORPHA:79263 |
Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Loss of ambulation, Fasciculations |
OMIM:182980 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ... |
OMIM:619862 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia... |
OMIM:610743 |
Isaacs Syndrome |
|
Weight loss, Distal sensory impairment |
ORPHA:84142 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Ataxia, Tremor, Kyphosis, Gait disturbance, Scoliosis, Abnormal nerve conduction velocity |
ORPHA:101075 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Juvenile Primary Lateral Sclerosis |
|
Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait imbalance, Abnormal upper... |
ORPHA:247604 |
Lethal Congenital Contracture Syndrome 8 |
|
Vocal cord paralysis, Distal sensory impairment, Facial diplegia, Hammertoe, Peripheral hypomyeli... |
OMIM:616287 |
Acute Peripheral Arterial Occlusion |
|
Paresthesia, Impaired distal tactile sensation, Paralysis |
ORPHA:90064 |
Fraxe Intellectual Disability |
|
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... |
ORPHA:100973 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weigh... |
OMIM:137440 |
Intellectual Developmental Disorder, X-Linked 72 |
|
Hyperactivity, Abnormal repetitive mannerisms |
OMIM:300271 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Cerebellar atrophy, Abnormal cerebellar peduncle morphology, Impaired vibratory sensation, Cerebe... |
ORPHA:98 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Cerebral cortical atrophy |
OMIM:615911 |
Myasthenic Syndrome, Congenital, 12 |
|
Fatigable weakness, Facial palsy, Waddling gait |
OMIM:610542 |
Childhood-Onset Autosomal Recessive Slowly Progressive Spinocerebellar Ataxia |
|
Impaired vibratory sensation, Cerebellar atrophy, Broad-based gait, Postural tremor, Babinski sig... |
ORPHA:284324 |
X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Inability to walk, Unsteady gait, Slurred s... |
ORPHA:93952 |
Spinocerebellar Ataxia 49 |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Babinski sign, Dysmetria, Dysdiadochokinesis, Abnormal... |
OMIM:619806 |
Pontocerebellar Hypoplasia Type 1 |
|
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Degeneration of anterior horn cells, Tongue ... |
ORPHA:2254 |
Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar ... |
OMIM:617810 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... |
OMIM:213600 |
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia |
OMIM:618425 |
Spinocerebellar Ataxia 50 |
|
Cerebellar atrophy, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sig... |
OMIM:620158 |
Spinocerebellar Ataxia, Autosomal Recessive 18 |
|
Cerebellar atrophy, Incoordination, Ataxia, Babinski sign, Dysmetria, Gait ataxia, Dysdiadochokin... |
OMIM:616204 |
Spinocerebellar Ataxia 44 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Spasticity, Frequent falls |
OMIM:617691 |
Spastic Paraplegia 6, Autosomal Dominant |
|
Lower limb spasticity, Clonus, Degeneration of the lateral corticospinal tracts, Tremor, Spastic ... |
OMIM:600363 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Cerebral atrophy, Br... |
ORPHA:329284 |
Charcot-Marie-Tooth Disease And Deafness |
|
Decreased motor nerve conduction velocity, Tremor, Split hand, Distal sensory impairment, Hammert... |
OMIM:118300 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ce... |
OMIM:617435 |
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 |
Primary Dystonia, Dyt27 Type |
|
Axial dystonia, Writer's cramp, Upper limb postural tremor, Focal dystonia, Limb dystonia, Oroman... |
ORPHA:464440 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Myocl... |
OMIM:619028 |
Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Impaired distal proprioception, Unsteady gait, Impaired distal vibration sens... |
OMIM:617633 |
Spinocerebellar Ataxia 42 |
|
Cerebellar atrophy, Spastic ataxia, Ataxia, Tremor, Loss of Purkinje cells in the cerebellar verm... |
OMIM:616795 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Tremor, Inability to walk, Impaired distal vibration sensation, Abnormal sensory nerve conduction... |
ORPHA:276435 |
Spinocerebellar Ataxia, Autosomal Recessive 21 |
|
Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensory impairment, Paresthesia... |
OMIM:616719 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Gait disturbance, Scoliosis |
ORPHA:101078 |
Hypokalemic Periodic Paralysis |
|
Fatigable weakness of respiratory muscles, Periodic hypokalemic paresis, Respiratory paralysis, P... |
ORPHA:681 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... |
ORPHA:391411 |
Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Dystonia, Hemiatrophy, Brain... |
ORPHA:306669 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Atrophy of the spinal cord, Babinski sign, Cerebral atrophy, Gait ataxia, Sen... |
ORPHA:445062 |
Chronic Hiccup |
|
Depression, Weight loss |
ORPHA:396 |
Alexander Disease Type I |
|
Cerebellar atrophy, Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Palatal tremor, Failur... |
ORPHA:363717 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Oculogyric crisis, Tremor, Inability to walk, Optic... |
ORPHA:330050 |
Dystonia 27 |
|
Torticollis, Postural tremor, Writer's cramp, Limb dystonia, Oromandibular dystonia, Laryngeal dy... |
OMIM:616411 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Spinocerebellar Ataxia 4 |
|
Cerebellar atrophy, Babinski sign, Distal sensory impairment, Progressive cerebellar ataxia, Limb... |
OMIM:600223 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Babinski sign, Optic atrophy, Scissor gait, Axonal degeneration, Cerebral atrophy, Choreo... |
OMIM:278800 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Dysesthe... |
ORPHA:139399 |
Cerebrotendinous Xanthomatosis |
|
Abnormal tibia morphology, Axonal degeneration, Abnormal pyramidal sign, Abnormal femur morpholog... |
ORPHA:909 |
Synaptic Congenital Myasthenic Syndromes |
|
Waddling gait, Facial palsy, Prolonged miniature endplate currents, Decreased size of nerve termi... |
ORPHA:98915 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Gait ataxia, Bradykinesia, Limb dy... |
ORPHA:71517 |
Epilepsy, Familial Adult Myoclonic, 3 |
|
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... |
OMIM:613608 |
Xeroderma Pigmentosum, Complementation Group G |
|
Tremor, Spasticity, Ataxia, Small for gestational age |
OMIM:278780 |
Spinocerebellar Ataxia 2 |
|
Dysmetria, Impaired vibratory sensation, Ataxia, Parkinsonism, Spinocerebellar tract degeneration... |
OMIM:183090 |
Progressive Supranuclear Palsy |
|
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... |
ORPHA:683 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Cerebellar atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Hand trem... |
OMIM:614409 |
Combined Oxidative Phosphorylation Deficiency 45 |
|
Tremor, Failure to thrive, Ataxia |
OMIM:618951 |
Rabies |
|
Vocal cord paresis, Cerebral palsy, Paresthesia |
ORPHA:770 |
Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Ataxia, Atrophy of the spinal cord, Babinski sign, Gait disturbance, Progress... |
OMIM:612020 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Short neck, Paucity of ante... |
OMIM:611890 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Gait disturbance, Scoliosis, Abnormal nerve... |
ORPHA:99014 |
Primary Dystonia, Dyt13 Type |
|
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... |
ORPHA:98807 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Bradykinesia, Neu... |
OMIM:300894 |
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency |
|
Cerebellar atrophy, Tremor, Talipes cavus equinovarus, Abnormal pyramidal sign, Progressive cereb... |
ORPHA:139485 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Cerebellar atrophy, Neurodegeneration, Gait ataxia |
ORPHA:438134 |
Spinocerebellar Ataxia 29 |
|
Broad-based gait, Cerebellar vermis hypoplasia, Truncal titubation, Dysmetria, Gait ataxia, Impai... |
OMIM:117360 |
Dystonia 28, Childhood-Onset |
|
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... |
OMIM:617284 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Inability to walk, Babinski sign, Spas... |
OMIM:609541 |
Secondary Syringomyelia |
|
Back pain, Hyperintensity of MRI T2 signal of the spinal cord, Paraplegia, Fatigable weakness, Pr... |
ORPHA:99857 |
Spinocerebellar Ataxia Type 3 |
|
Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive cerebellar ataxia, Abnorma... |
ORPHA:98757 |
Spinocerebellar Ataxia 19 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Cogwheel rigidity, Progressive cer... |
OMIM:607346 |
Spinocerebellar Ataxia, Autosomal Recessive 11 |
|
Cerebellar atrophy, Ataxia, Limb ataxia, Gait disturbance, Truncal ataxia, Cerebellar vermis atrophy |
OMIM:614229 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Cerebellar atrophy, Dilated fourth ventricle, Diffuse cerebral atrophy, Ataxia, Poor motor coordi... |
ORPHA:1170 |
Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Diffuse cerebral atrophy, Rigidity, De... |
OMIM:619279 |
Intellectual Developmental Disorder, X-Linked 104 |
|
Ataxia, Tremor, Optic atrophy, Spasticity, Cerebral cortical atrophy |
OMIM:300983 |
Corticobasal Syndrome |
|
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... |
ORPHA:454887 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ataxia, Facial palsy, Cachexia, Tremor, Abnormal autonomic nervous system phys... |
ORPHA:97229 |
Cln5 Disease |
|
Cerebellar atrophy, Abnormal central motor function, Ataxia, Tremor, Inability to walk, Atrophy/D... |
ORPHA:228360 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tapered finger, Tremor, Cerebellar glio... |
OMIM:616505 |
Null Syndrome |
|
Ataxia, Decreased nerve conduction velocity, Abnormal cerebellum morphology, Inability to walk, O... |
ORPHA:280234 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Decreased nerve conduction velocity, Unsteady gait, Difficulty wal... |
ORPHA:600 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Fatigable weakness |
OMIM:254190 |
Spastic Ataxia, Charlevoix-Saguenay Type |
|
Decreased motor nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dysme... |
OMIM:270550 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Clumsiness, Eye... |
ORPHA:2590 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, Blepharospasm, Br... |
OMIM:606159 |
Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies |
|
Self-injurious behavior, Hyperactivity, Aggressive behavior |
OMIM:619031 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Cerebellar atrophy, Abnormal lower motor neuron morphology, Generalized dystonia, Ataxia, Parkins... |
OMIM:614298 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Somatic sensory dysfunction, Tremor, Inability to walk, Abnormality of the seventh cranial nerve,... |
ORPHA:90117 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... |
OMIM:613135 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, C... |
OMIM:272750 |
Dystonia 3, Torsion, X-Linked |
|
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... |
OMIM:314250 |
Spinocerebellar Ataxia Type 29 |
|
Cerebellar atrophy, Ataxia, Dysmetria, Gait ataxia, Dysdiadochokinesis, Oculomotor apraxia, Cereb... |
ORPHA:208513 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Parkinsonism-Dystonia 3, Childhood-Onset |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dys... |
OMIM:619738 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Generalized dystonia, Inability to walk, Opisthotonus, Weight loss, Tip-toe ga... |
ORPHA:216866 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Hyperactivity, Aggressive behavior, Tremor, Choreoathetosis, Transient hyperphenylalaninemia, Dys... |
OMIM:612716 |
Christianson Syndrome |
|
Cerebellar atrophy, Dystonia, Cachexia, Gait ataxia, Truncal ataxia, Aplasia/Hypoplasia of the ce... |
ORPHA:85278 |
Spinocerebellar Ataxia Type 19/22 |
|
Cerebellar atrophy, Broad-based gait, Ataxia, Poor coordination, Slurred speech, Limb ataxia, Cog... |
ORPHA:98772 |
Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Progressive cerebellar ataxia, Dysdiadochokinesis,... |
ORPHA:254881 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Cerebellar atrophy, Torticollis, Generalized dystonia, Writer's cramp, Facial palsy, Hyperlordosi... |
OMIM:128100 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Shuffling ga... |
OMIM:618049 |
Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation, Cerebral atrophy |
OMIM:619405 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbance, ... |
OMIM:617404 |
Stxbp1-Related Encephalopathy |
|
Ataxia, Tremor, Inability to walk, Spastic tetraplegia, Dystonia, Spasticity |
ORPHA:599373 |
Hsd10 Disease |
|
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Frontotemporal cerebral atrophy, Gait d... |
ORPHA:391417 |
Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Abnormal substantia nigra morphology, Dystonia, Parkinsonism, Rigidity, Babinski sign, Optic atro... |
ORPHA:289560 |
Alexander Disease Type Ii |
|
Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Abnormal auto... |
ORPHA:363722 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Kyphosis, Abnormal pyramidal sign, Dysmetria, Motor axonal neuropathy, Scoliosis, Abnorma... |
ORPHA:48431 |
Spinocerebellar Ataxia 34 |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, G... |
OMIM:133190 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Kyphosis, Hyperactivity, Scoliosis, Bruxism |
OMIM:300434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Waddling gait, Hyperlordosis, Difficulty walking, Scoliosis |
OMIM:611067 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:606070 |
Dystonia 11, Myoclonic |
|
Tremor, Torticollis, Writer's cramp, Myoclonus |
OMIM:159900 |
Developmental And Epileptic Encephalopathy 97 |
|
Tremor, Inability to walk |
OMIM:619561 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Somatic sensory dysfunction, Abnormal medulla obl... |
ORPHA:206448 |
Gm1-Gangliosidosis, Type Iii |
|
Diffuse cerebral atrophy, Dystonia, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, A... |
OMIM:230650 |
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 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:301008 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Cerebellar atrophy, Ataxia, Unsteady gait, Abnormal pyramidal sign, Spastic tetraplegia, Cerebral... |
OMIM:256600 |
Spinocerebellar Ataxia 15 |
|
Cerebellar atrophy, Postural tremor, Limb ataxia, Gait ataxia, Truncal ataxia, Action tremor |
OMIM:606658 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady gait, Opti... |
ORPHA:442835 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Fatigable weakness, Facial palsy |
OMIM:616322 |
Epilepsy, Familial Adult Myoclonic, 1 |
|
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex |
OMIM:601068 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dys... |
OMIM:607694 |
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia |
|
Atrophy of the spinal cord, Truncal ataxia, Spastic paraparesis, Palatal tremor, Cerebral cortica... |
OMIM:113610 |
Leukodystrophy, Hypomyelinating, 6 |
|
Cerebellar atrophy, Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomoto... |
OMIM:612438 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Slender build, Ataxia, Cachexia, Weight loss |
OMIM:613662 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Peripheral axonal neuropathy, Ataxia, Involuntary movements, Chorea, Optic atroph... |
ORPHA:401768 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia |
OMIM:128235 |
Spinocerebellar Ataxia, Autosomal Recessive 7 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Postural tremor, Truncal titubation, Un... |
OMIM:609270 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities |
|
Tremor, Broad-based gait, Optic atrophy, Spastic tetraparesis |
OMIM:619470 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Weight loss, Failure to thrive, Cachexia, Gait ataxia |
OMIM:612075 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... |
ORPHA:240103 |
Hyperprolinemia, Type I |
|
Hyperactivity, Abnormal repetitive mannerisms, Hyperprolinemia, Aggressive behavior |
OMIM:239500 |
Arnold-Chiari Malformation Type I |
|
Myelopathy, Cranial nerve compression, Babinski sign, Vocal cord paralysis, Abnormality of the tw... |
ORPHA:268882 |
Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Broad-based gait, Tremor, Babinski sign, Spastic paraplegia, Difficulty walking, Failure to thrive |
ORPHA:477673 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Clonus, Tremor, Abnormal pyramidal sign, Impaired proprioception, Dysmetria, Gait ataxia, Hyperto... |
ORPHA:99027 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Fatigable weakness, Facial palsy |
OMIM:616325 |
Pelizaeus-Merzbacher Disease |
|
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Tremor, Inability to walk, Head t... |
OMIM:312080 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ataxia, Cerebral atrophy |
OMIM:618637 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Tremor, Rigidity, Chiari type I malformation, Bradykinesia, Dystonia |
OMIM:617836 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Inability to walk, Babi... |
OMIM:617013 |
Inherited Creutzfeldt-Jakob Disease |
|
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... |
ORPHA:282166 |
Glycine Encephalopathy 1 |
|
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Hyperglycinemia |
OMIM:605899 |
Leukoencephalopathy With Calcifications And Cysts |
|
Ataxia, Tremor, Abnormal pyramidal sign, Cerebral atrophy, Gait disturbance, Dystonia, Spasticity... |
ORPHA:542310 |
Pomt2-Related Limb-Girdle Muscular Dystrophy R14 |
|
Inability to walk, Frontal cortical atrophy, Difficulty walking, Fatigable weakness of skeletal m... |
ORPHA:206559 |
Myasthenic Syndrome, Congenital, 10 |
|
Fatigable weakness, Waddling gait |
OMIM:254300 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Tongue fasciculation... |
ORPHA:1145 |
Autosomal Dominant Spastic Paraplegia Type 9B |
|
Peripheral axonal neuropathy, Postural tremor, Atrophy of the spinal cord, Babinski sign, Focal d... |
ORPHA:447757 |
Parkinson Disease 22, Autosomal Dominant |
|
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... |
OMIM:616710 |
Epilepsy, Familial Adult Myoclonic, 4 |
|
Tremor, Enhancement of the C-reflex, Myoclonus |
OMIM:615127 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Periodic paralysis |
OMIM:613345 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Weight loss, Periodic paralysis |
OMIM:613239 |
Desminopathy |
|
Thoracic kyphoscoliosis, Spinal rigidity, Fatigable weakness of bulbar muscles, Difficulty walkin... |
ORPHA:98909 |
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities |
|
Optic disc pallor, Ataxia, Involuntary movements, Rigidity, Chorea, Babinski sign, Optic atrophy,... |
OMIM:617282 |
Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
Hyperlysinemia, Type I |
|
Hyperactivity, Hyperlysinemia |
OMIM:238700 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Waddling gait, Lower limb spasticity, Ataxia, Delayed peripheral myelination, Kyphosis, Unsteady ... |
ORPHA:464282 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Fatigable weakness, Gait disturbance, Scoliosis |
ORPHA:424107 |
Epilepsy, Progressive Myoclonic, 6 |
|
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation |
OMIM:614018 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait disturbance, Upper limb hyperto... |
OMIM:614898 |
Intellectual Developmental Disorder, Autosomal Recessive 48 |
|
Waddling gait, Inability to walk, Small hand, Tremor |
OMIM:616269 |
Spinocerebellar Ataxia Type 21 |
|
Akinesia, Rigidity, Tremor, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... |
ORPHA:98773 |
Perry Syndrome |
|
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss |
ORPHA:178509 |
Spinocerebellar Ataxia Type 18 |
|
Cerebellar atrophy, Somatic sensory dysfunction, Peripheral axonal neuropathy, Dysmetria, Titubat... |
ORPHA:98771 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait |
OMIM:303350 |
Autosomal Recessive Ataxia, Beauce Type |
|
Cerebellar atrophy, Lower limb spasticity, Chronic axonal neuropathy, Ataxia, Kyphosis, Babinski ... |
ORPHA:88644 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Chorea, Inability to walk, Abnormal pyramidal sign, Cerebral atrophy, Gait ataxia, Abno... |
ORPHA:500180 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology, Spastic diplegia, Cerebral atrophy... |
ORPHA:255182 |
Spinocerebellar Ataxia 8 |
|
Cerebellar atrophy, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxi... |
OMIM:608768 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Babinski sign, Spastic paraplegia, Spastic tetraplegia, T... |
OMIM:607225 |
Myasthenic Syndrome, Congenital, 14 |
|
Fatigable weakness, Waddling gait, Scoliosis, Hyperlordosis |
OMIM:616228 |
4H Leukodystrophy |
|
Cerebellar atrophy, Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadoch... |
ORPHA:289494 |
Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Tremor, Frequent falls, Myoclonus, Dystonia |
OMIM:619647 |
Dentatorubral Pallidoluysian Atrophy |
|
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... |
ORPHA:101 |
Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor |
ORPHA:1368 |
Typical Nemaline Myopathy |
|
Waddling gait, Facial palsy, Hyperlordosis, Short neck, Fatiguable weakness of proximal limb musc... |
ORPHA:171436 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus |
OMIM:612016 |
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Cerebellar atrophy, Tremor, Optic atrophy, Dysmetria, Gait ataxia, Cerebellar hypoplasia, Difficu... |
ORPHA:529665 |
Pelizaeus-Merzbacher Disease |
|
Ataxia, Failure to thrive in infancy, Cachexia, Optic atrophy, Choreoathetosis, Gait disturbance,... |
ORPHA:702 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Ataxia, Parkinsonism, Small for gestational age, Tremor, Rigidity, Choreoathetosis, Bradykinesia,... |
OMIM:261640 |
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
Japanese Encephalitis |
|
Hyperintensity of MRI T2 signal of the spinal cord, Decreased motor nerve conduction velocity, Ab... |
ORPHA:79139 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis |
OMIM:188580 |
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Pontocerebellar atroph... |
OMIM:618060 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Akinesia, Rigidity, Clumsiness, Bradykinesia, Thin... |
OMIM:619911 |
Familial Cervical Artery Dissection |
|
Paresthesia, Facial palsy, Paralysis |
ORPHA:36382 |
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Chronic axonal neuropathy, Dystoni... |
OMIM:606002 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Ataxia, Tremor, Optic atrophy, Cerebral atrophy, Choreoathetosis, Cerebellar hypoplasia, Dystonia... |
OMIM:619422 |
Adult-Onset Cervical Dystonia, Dyt23 Type |
|
Cerebellar atrophy, Axial dystonia, Torticollis, Writer's cramp, Unsteady gait, Limb tremor, Foca... |
ORPHA:420492 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Dystonia, Parkinsonism, Tremor, Inability to walk, Rigidity, Head titubation, Cerebral atrophy, G... |
OMIM:618877 |
Urocanic Aciduria |
|
Broad-based gait, Ataxia, Gait ataxia, Truncal ataxia, Action tremor |
ORPHA:210128 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Substantia nigra gliosis, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal ... |
OMIM:168600 |
Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
Tubular Aggregate Myopathy |
|
Fatiguable weakness of proximal limb muscles, Fatigable weakness |
ORPHA:2593 |
Fatal Familial Insomnia |
|
Ataxia, Weight loss, Abnormal autonomic nervous system physiology, Myoclonus, Neuronal loss in ce... |
OMIM:600072 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... |
ORPHA:240094 |
Spinocerebellar Ataxia 6 |
|
Cerebellar atrophy, Incoordination, Ataxia, Slurred speech, Dysmetria, Progressive cerebellar ata... |
OMIM:183086 |
Peroxisome Biogenesis Disorder 5B |
|
Cerebellar atrophy, Ataxia, Tremor, Unsteady gait, Dysmetria, Oculomotor apraxia |
OMIM:614867 |
Perry Syndrome |
|
Parkinsonism, Akinesia, Tremor, Rigidity, Weight loss, Bradykinesia, Dystonia, Short stepped shuf... |
OMIM:168605 |
X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Incoordination, Paralysis, Paraparesis, Progressive spastic parapare... |
ORPHA:43 |
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities |
|
Syndactyly, Ataxia, Arachnodactyly, Tremor, Gait ataxia, Impaired tactile sensation, Hypertonia, ... |
OMIM:619092 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Parkinsonism, Acti... |
OMIM:300623 |
Developmental And Epileptic Encephalopathy 43 |
|
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder |
OMIM:617113 |
Primary Dystonia, Dyt2 Type |
|
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... |
ORPHA:99657 |
Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Spasticity, Gait ataxia,... |
ORPHA:247234 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Cerebellar atrophy, Kyphosis, Optic atrophy, Spastic tetraplegia, Dystonia |
OMIM:618237 |
Charcot-Marie-Tooth Disease, Type 4K |
|
Ataxia, Kyphoscoliosis, Axonal loss, Difficulty walking, Dystonia, Peripheral demyelination |
OMIM:616684 |
Glut1 Deficiency Syndrome 2 |
|
Ataxia, Tremor, Cerebral atrophy, Choreoathetosis, Dystonia |
OMIM:612126 |
Neuronal Intranuclear Inclusion Disease |
|
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... |
OMIM:603472 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:85317 |
Hereditary Central Diabetes Insipidus |
|
Irritability, Weight loss |
ORPHA:30925 |
Intellectual Developmental Disorder With Hypotonia, Impaired Speech, And Dysmorphic Facies |
|
Ataxia, Tremor, Inability to walk, Hypertonia, Cerebellar hypoplasia, Failure to thrive |
OMIM:619556 |
Oculopharyngodistal Myopathy |
|
Paraplegia, Weight loss, Difficulty walking, Loss of ambulation, Vocal cord paresis |
ORPHA:98897 |
Hyperphenylalaninemia, Bh4-Deficient, C |
|
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia |
OMIM:261630 |
Atypical Rett Syndrome |
|
Dystonia, Involuntary movements, Tremor, Kyphosis, Inability to walk, Limb myoclonus, Gait ataxia... |
ORPHA:3095 |
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia |
OMIM:618587 |
Isolated Congenital Hypoglossia/Aglossia |
|
Aplasia/Hypoplasia of fingers, Weight loss |
ORPHA:141152 |
Charcot-Marie-Tooth Disease Type 4C |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Failure to thrive, Decreased numbe... |
ORPHA:99949 |
Diencephalic Syndrome |
|
Large hands, Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Caudate atrophy, Generalized dystonia, Dystonia, Tremor, Ina... |
ORPHA:52368 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Broad-based gait, Failure to thrive, Tremor, Inability to walk, Optic at... |
OMIM:617988 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Intellectual Developmental Disorder, Autosomal Recessive 39 |
|
Hyperactivity, Abnormal repetitive mannerisms, Kyphoscoliosis, Aggressive behavior |
OMIM:615541 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Peripheral axonal neuropathy, Ataxia, Kyphosis, Unsteady gait, Scoliosis, Loss of ambulation |
OMIM:618124 |
Baralle-Macken Syndrome |
|
Inability to walk, Kyphosis, Dystonia, Spasticity, Global brain atrophy |
OMIM:619255 |
Neuroblastoma, Susceptibility To, 1 |
|
Ataxia, Spinal cord compression, Horner syndrome, Weight loss, Myoclonus, Failure to thrive, Gang... |
OMIM:256700 |
Krabbe Disease |
|
Diffuse cerebral atrophy, Hypertonia, Neurodegeneration, Decerebrate rigidity, Progressive spasti... |
OMIM:245200 |
Ataxia-Oculomotor Apraxia 4 |
|
Impaired vibratory sensation, Cerebellar atrophy, Ataxia, Abnormal pyramidal sign, Obesity, Tetra... |
OMIM:616267 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Parastremmatic Dwarfism |
|
Kyphosis, Scoliosis, Short neck |
OMIM:168400 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia, Cerebral atrophy... |
OMIM:610217 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Dilated fourth ventricle, Cerebellar dysplasia, Ataxia, Elongated superior cerebellar peduncle, H... |
ORPHA:370022 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
Parkinson-Dementia Syndrome |
|
Tremor, Abnormal pyramidal sign, Rigidity, Parkinsonism |
OMIM:260540 |
Pure Mitochondrial Myopathy |
|
Waddling gait, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Fatigable weakness of ... |
ORPHA:254854 |
Ane Syndrome |
|
Motor neuron atrophy, Kyphoscoliosis |
ORPHA:157954 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... |
ORPHA:40 |
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Cerebellar atrophy, Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia... |
OMIM:614575 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia |
OMIM:610297 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Broad-based gait, Postural tremor, Parkinsonism, Rigidity, Abnorm... |
ORPHA:227510 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Abnormal upper motor neuron mor... |
OMIM:215470 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Increased body mass index, Cerebellar vermis hypoplasia, Small for gestational age, Tremor, Abnor... |
OMIM:300957 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidit... |
ORPHA:99750 |
Late-Infantile/Juvenile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... |
ORPHA:206443 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Weight l... |
ORPHA:94080 |
Developmental And Epileptic Encephalopathy 46 |
|
Tremor, Failure to thrive, Cerebral atrophy, Limb hypertonia |
OMIM:617162 |
Spastic Paraplegia 9B, Autosomal Recessive |
|
Tremor, Corpus callosum atrophy, Babinski sign, Impaired distal vibration sensation, Spastic para... |
OMIM:616586 |
Kufor-Rakeb Syndrome |
|
Torticollis, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski sign, Spasti... |
OMIM:606693 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Fatigable weakness, Facial palsy, Decreased size of nerve terminals |
OMIM:608931 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration |
OMIM:106100 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity, Tremor, Metaphyseal chondrodysplasia, Babinski sign, Spa... |
ORPHA:83629 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Resting tremor, Dystonia, Ataxia, Parkinsonism, Tremor, Babinski sign, Spastic paraplegia, Spasti... |
OMIM:300055 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Ataxia, Facial palsy, Abnormal cerebellum morphology, Vocal cord paralysis, Clumsiness, Ankle clo... |
OMIM:211530 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Gait disturbance, Myoclonus, Aprax... |
OMIM:221770 |
Intellectual Developmental Disorder, X-Linked 77 |
|
Hyperactivity |
OMIM:300454 |
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Cerebellar atrophy, Ataxia, Tremor, Abnormal pyramidal sign, Optic atrophy, Dysmetria, Gait ataxi... |
OMIM:614381 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... |
ORPHA:240085 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Scoliosis, Frequent falls |
OMIM:300718 |
Guanidinoacetate Methyltransferase Deficiency |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Athetosis, Dystonia |
ORPHA:382 |
Glossopharyngeal Neuralgia |
|
Dysesthesia, Cranial nerve compression, Schwannoma, Vocal cord paralysis, Weight loss, Chiari typ... |
ORPHA:221098 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Ataxia, Kyphosis, Unsteady gait, Scoliosis |
OMIM:300861 |
Intestinal Dysmotility Syndrome |
|
Failure to thrive, Weight loss |
OMIM:620045 |
Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
Laryngeal Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100083 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Dyst... |
ORPHA:411602 |
Parkinson Disease 14, Autosomal Recessive |
|
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... |
OMIM:612953 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor, Oculog... |
ORPHA:352649 |
Adrenoleukodystrophy |
|
Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Neurodegeneration, ... |
OMIM:300100 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Optic atrophy, Distal sensory impai... |
OMIM:601152 |
X-Linked Dystonia-Parkinsonism |
|
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... |
ORPHA:53351 |
Spinocerebellar Ataxia Type 42 |
|
Cerebellar atrophy, Resting tremor, Upper limb postural tremor, Abnormal cerebellum morphology, U... |
ORPHA:458803 |
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Resting tremor, Hyperactivity, Kyphoscoliosis, Anorexia, Tremor, Aggressive behavior, Abnormal fe... |
ORPHA:3077 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Intellectual Developmental Disorder, Autosomal Dominant 67 |
|
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder |
OMIM:619927 |
Multicentric Reticulohistiocytosis |
|
Cachexia |
ORPHA:139436 |
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Tremor, Ataxia, Gait ataxia |
OMIM:617831 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type |
|
Hyperactivity, Inflexible adherence to routines |
OMIM:301076 |
Usmani-Riazuddin Syndrome, Autosomal Dominant |
|
Hyperactivity, Lumbar hyperlordosis, Aggressive behavior, Self-injurious behavior, Thoracic kypho... |
OMIM:619467 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Facial palsy, Rigidity, Inability to walk, Chorea, Babinski sign, Abnormal pyramidal sign, Parapa... |
OMIM:607483 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Tremor, Cerebral atrophy, Choreoathetosis, Myoclonus, Dystonia, Episod... |
OMIM:312170 |
Myopathy With Extrapyramidal Signs |
|
Peripheral axonal neuropathy, Ataxia, Clonus, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoat... |
OMIM:615673 |
Cerebral Creatine Deficiency Syndrome 2 |
|
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... |
OMIM:612736 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Cerebral palsy, Small for gestational age, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Dys... |
ORPHA:70594 |
Myoclonic-Atonic Epilepsy |
|
Tremor, Ataxia, Eyelid myoclonus |
OMIM:616421 |
Isolated Succinate-Coq Reductase Deficiency |
|
Ataxia, Spastic tetraparesis, Babinski sign, Weight loss, Lower limb hypertonia, Spastic parapare... |
ORPHA:3208 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Kyphosis, Ataxia, Tongue fasciculations |
OMIM:620007 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Tapered finger, Decrease... |
OMIM:218000 |
Tick-Borne Encephalitis |
|
Speech apraxia, Somatic sensory dysfunction, Abnormal medulla oblongata morphology, Incoordinatio... |
ORPHA:297 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Poor fine motor coordination, Bradykinesia, Generalized cerebral ... |
ORPHA:36387 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia |
OMIM:614203 |
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
Hyperactivity, Aggressive behavior, Choreoathetosis, Self-injurious behavior, Scoliosis |
OMIM:620023 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Parkinsonism, Involuntary movements, Writer's cramp, C... |
ORPHA:157846 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... |
OMIM:271530 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Gait disturbance, Tetr... |
OMIM:263570 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Speech apraxia, Broad-based gait, Babinski sign, Hypertonia, Gait disturbance, Neurodegeneration,... |
ORPHA:79244 |
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia |
|
Hyperactivity, Tremor, Self-injurious behavior, Bruxism, Abnormal repetitive mannerisms, Paroxysm... |
OMIM:618718 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Corpus callosum atrophy, Hof... |
OMIM:601162 |
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia,... |
OMIM:617710 |
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome |
|
Tremor, Hypertonia, Gait disturbance, Aplasia/Hypoplasia of the cerebellum, Cerebral cortical atr... |
ORPHA:1192 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Kyphosis, Decreased compound muscle action potential amplitude, Scoliosis, Spinal rigidity |
OMIM:618323 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Kyphosis, Spasticity, Gait disturbance, Scoliosis |
ORPHA:2429 |
Phenylketonuria |
|
Maternal hyperphenylalaninemia, Hyperactivity, Aggressive behavior, Compulsive behaviors, Hyperph... |
OMIM:261600 |
Oromandibular Dystonia |
|
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... |
ORPHA:93958 |
Gm2 Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Chorea, Abnormal pyramidal sign, Cerebral atrophy, Progressive spas... |
ORPHA:309246 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Failure to thrive in infancy, Cachexia, Tapered finger, Inability to walk, Cerebral atrophy, Hype... |
OMIM:616801 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Broad-based gait, Peripheral axonal neuropathy, Ataxia, Impaired distal proprioception, Hypoesthe... |
OMIM:607459 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Impaired temperature sensation, Tremor, Impaired pain sensation, Impaired distal vibration sensat... |
OMIM:619574 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Fatigable weakness, Kyphosis, Facial palsy, Scoliosis |
OMIM:617143 |
Developmental And Epileptic Encephalopathy 32 |
|
Tremor, Ataxia, Myoclonus |
OMIM:616366 |
Ataxia With Vitamin E Deficiency |
|
Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetria, Dysdiadochokinesis, H... |
ORPHA:96 |
Rett Syndrome |
|
Dystonia, Cachexia, Gait apraxia, Gait ataxia, Short foot, Truncal ataxia, Spasticity, Cerebral c... |
OMIM:312750 |
Autosomal Dominant Spastic Paraplegia Type 9A |
|
Abnormality of the dorsal column of the spinal cord, Tremor, Abnormal cerebellum morphology, Corp... |
ORPHA:447753 |
Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Periodic paralysis |
OMIM:170400 |
Hsd10 Disease, Infantile Type |
|
Diffuse cerebral atrophy, Spastic tetraparesis, Poor coordination, Spastic diplegia, Cerebral atr... |
ORPHA:391428 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Upper limb hypertonia, Kyphosis, Clonus, Limb dystonia |
ORPHA:319199 |
Sandhoff Disease |
|
Kyphosis, Ataxia |
ORPHA:796 |
Thymic Carcinoma |
|
Fatigable weakness, Diaphragmatic paralysis |
ORPHA:99868 |
Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Paralysis, Paraparesis, Inability to walk, Hyperkinetic... |
ORPHA:2912 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hemiplegia/hemiparesis, Optic atrophy, Abnormal brainstem morphology, Abnormal pyramidal sign, Ab... |
ORPHA:79279 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Babinski sign, 2-3 toe s... |
OMIM:618186 |
Central Diabetes Insipidus |
|
Depression, Failure to thrive, Weight loss |
ORPHA:178029 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
O'Sullivan-Mcleod Syndrome |
|
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Tremor, Atrophy ... |
ORPHA:99965 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Ataxia, Tremor, Optic atrophy, Upper limb undergrowth, Small hand, Pontocerebellar atrophy, Short... |
OMIM:608799 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Tremor, Tongue tremor, Hypertonia, Impaired vibratory sensation,... |
ORPHA:466768 |
Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Cerebellar atrophy, Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Corpus cal... |
ORPHA:171629 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Vertebral fusion, Facial palsy, Hyperlordosis, Kyphosis, Tip-toe gait, Scolio... |
OMIM:606612 |
Developmental Delay, Language Impairment, And Ocular Abnormalities |
|
Hyperactivity, Impulsivity, Aggressive behavior, Scoliosis, Attention deficit hyperactivity disor... |
OMIM:620141 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Gait disturb... |
OMIM:615530 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Cerebellar atrophy, Tremor, Inability to walk, Optic atrophy, Choreoathetosis, Dystonia, Spasticity |
OMIM:617664 |
Cdkl5-Deficiency Disorder |
|
Kyphosis, Difficulty walking, Gait disturbance, Scoliosis |
ORPHA:505652 |
Optic Pathway Glioma |
|
Fatigable weakness, Papilledema, Neurofibroma, Optic atrophy |
ORPHA:2086 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Tremor, Inability to walk, Vocal cord paralysis,... |
ORPHA:99956 |
Aicardi-Goutieres Syndrome 6 |
|
Tremor, Loss of ambulation, Rigidity, Dystonia |
OMIM:615010 |
X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Ataxia, Cachexia, Chorea, Athetosis, Hypertonia, Dystonia |
ORPHA:52503 |
Alpha-Methylacyl-Coa Racemase Deficiency |
|
Ataxia, Tremor, Hemiparesis, Spasticity, Intention tremor |
OMIM:614307 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclon... |
ORPHA:500144 |
Flynn-Aird Syndrome |
|
Ataxia, Cerebral cortical atrophy, Cachexia, Impaired pain sensation |
ORPHA:2047 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemipl... |
OMIM:602481 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... |
OMIM:619827 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Developmental And Epileptic Encephalopathy 42 |
|
Tremor, Athetosis, Hypertonia, Ataxia |
OMIM:617106 |
Congenital Myopathy 15 |
|
Waddling gait, Vocal cord paralysis |
OMIM:620161 |
Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, Bradykinesia, Neu... |
OMIM:146500 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Abnormal cerebellum morphology, Truncal... |
OMIM:618056 |
Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Parkinsonism, Abnormal autonomic nervous system physiology, Weight loss |
OMIM:605543 |
Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Gait disturbance, Cachexia |
ORPHA:157973 |
Caribbean Parkinsonism |
|
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... |
ORPHA:97355 |
Leukoencephalopathy With Ataxia |
|
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia |
OMIM:615651 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi... |
ORPHA:93256 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Peripheral axonal neuropathy, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, H... |
OMIM:105210 |
Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
Snakebite Envenomation |
|
Pseudobulbar paralysis, Respiratory paralysis, Paralysis |
ORPHA:449285 |
Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
Gm1 Gangliosidosis |
|
Generalized dystonia, Ataxia, Camptodactyly of finger, Tremor, Unsteady gait, Optic atrophy, Weig... |
ORPHA:354 |
Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... |
OMIM:616840 |
Xeroderma Pigmentosum, Complementation Group F |
|
Tremor, Ataxia, Brain atrophy, Decreased body weight |
OMIM:278760 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Cerebellar edema, Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Cervical myelopathy, Tetrapa... |
OMIM:617186 |
Glutathionuria |
|
Tremor, Dysdiadochokinesis, Action tremor |
OMIM:231950 |
Foodborne Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Classic Hodgkin Lymphoma |
|
Ataxia, Weight loss |
ORPHA:391 |
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy |
|
Waddling gait, Tremor, Shuffling gait, Fasciculations, Loss of ambulation |
ORPHA:209335 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Shuffling gait, Myoclonus... |
OMIM:168601 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Ataxia, Cachexia |
ORPHA:1933 |
Moynahan Syndrome |
|
Cachexia |
ORPHA:2574 |
Female Restricted Epilepsy With Intellectual Disability |
|
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors |
ORPHA:101039 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Akinesia, Tremor, Abnormal pyramidal sign, Blepharospasm, Bradykine... |
ORPHA:240071 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Eyelid apraxia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski sign, Abnormal pyramid... |
OMIM:234200 |
Epilepsy, Familial Adult Myoclonic, 2 |
|
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... |
OMIM:607876 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis |
OMIM:612300 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cerebral atrophy, Hyp... |
OMIM:203700 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Cerebral palsy, Hypertonia, Gait disturbance, Fasciculations, Pa... |
ORPHA:682 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Postaxial hand polydactyly, Hypertonia, Cachexia |
ORPHA:1389 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Waddling gait, Kyphosis |
OMIM:618392 |
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Tremor, Overweight, Hyperkinetic movements, Upper limb spasticity, Gait disturbance, Cerebellar d... |
ORPHA:457240 |
Dystonia 13, Torsion, Autosomal Dominant |
|
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... |
OMIM:607671 |
Hemifacial Atrophy, Progressive |
|
Kyphosis, Ataxia, Horner syndrome |
OMIM:141300 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Cachexia, Decreased numb... |
ORPHA:298 |
Hyperphenylalaninemia, Bh4-Deficient, B |
|
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia |
OMIM:233910 |
Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Kyphosis, Gait disturbance |
ORPHA:1875 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Gait disturbance, Spasticity, Failure to thrive |
ORPHA:100 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Kyphosis |
ORPHA:85288 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Focal Myositis |
|
Weight loss |
ORPHA:48918 |
Bethlem Myopathy 2 |
|
Kyphosis, Scoliosis |
OMIM:616471 |
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Ataxia, Kyphosis, Limb ataxia, Gait ataxia, Scoliosis, Spasticity, Cerebellar... |
OMIM:248800 |
Pyruvate Dehydrogenase Deficiency |
|
Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Osteolytic defects of the middle phalanx... |
ORPHA:765 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:600175 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Oculogyric crisis, Akinesia, Rigidity, Kypho... |
ORPHA:97349 |
Sialidosis Type 1 |
|
Ataxia, Tremor, Kyphosis, Decreased nerve conduction velocity, Slurred speech, Abnormal form of t... |
ORPHA:812 |
Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome |
|
Cerebellar atrophy, Resting tremor, Ataxia, Babinski sign, Optic atrophy, Cerebral atrophy, Head ... |
ORPHA:314404 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Tay-Sachs Disease |
|
Cerebellar atrophy, Exaggerated startle response, Incoordination, Dystonia, Tremor, Inability to ... |
ORPHA:845 |
Asparagine Synthetase Deficiency |
|
Dilated fourth ventricle, Exaggerated startle response, Cerebellar vermis hypoplasia, Caudate atr... |
OMIM:615574 |
Saccharopinuria |
|
Tremor, Spastic diplegia, Distal sensory impairment, Gait ataxia |
ORPHA:3124 |
Spontaneous Periodic Hypothermia |
|
Tremor, Ataxia, Gait disturbance |
ORPHA:29822 |
Rhabdoid Tumor |
|
Hemiplegia, Cerebral palsy, Weight loss |
ORPHA:69077 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Unsteady gait, Ataxia, Neurodegeneration |
OMIM:615919 |
Thyrotoxic Periodic Paralysis |
|
Paralysis, Tremor, Obesity, Tetraplegia, Weight loss, Respiratory paralysis, Periodic hypokalemic... |
ORPHA:79102 |
Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
Infantile Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Diffuse cerebral atrophy, ... |
ORPHA:206436 |
Wieacker-Wolff Syndrome |
|
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Cerebral atrophy, Scoliosis, Apraxia... |
OMIM:314580 |
Hypermanganesemia With Dystonia 1 |
|
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... |
OMIM:613280 |
Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Adrenal pheochromocytoma, Chemodectoma, Glom... |
OMIM:605373 |
Holocarboxylase Synthetase Deficiency |
|
Irritability, Ataxia, Weight loss |
ORPHA:79242 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Small for gestational age, Neurodegeneration, Brain... |
OMIM:214150 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Spinal rigidity, Short neck, Kyphosis, Scoliosis, Frequent falls |
ORPHA:75840 |
Graves Disease, Susceptibility To, 1 |
|
Irritability, Weight loss |
OMIM:275000 |
Developmental And Epileptic Encephalopathy 4 |
|
Tremor, Spastic paraplegia, Spastic tetraplegia, Cerebral atrophy, Choreoathetosis |
OMIM:612164 |
Sjögren-Larsson Syndrome |
|
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity |
ORPHA:816 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Tremor, Cerebellar hypoplasia, Fasciculations, ... |
OMIM:620327 |
Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
Kanzaki Disease |
|
Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
Borjeson-Forssman-Lehmann Syndrome |
|
Scheuermann-like vertebral changes, Kyphosis, Scoliosis, Cervical spinal canal stenosis |
OMIM:301900 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Kyphosis |
OMIM:609384 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Waddling gait, Vertebral fusion, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis, Difficulty wal... |
OMIM:607155 |
Metabolic Crises, Recurrent, With Rhabdomyolysis, Cardiac Arrhythmias, And Neurodegeneration |
|
Ataxia, Clonus, Poor coordination, Spastic tetraplegia, Spastic diplegia, Gait ataxia, Cerebral a... |
OMIM:616878 |
Stiff Person Spectrum Disorder |
|
Exaggerated startle response, Lumbar hyperlordosis |
ORPHA:3198 |
Myopathy, Centronuclear, 2 |
|
Waddling gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:255200 |
Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:85447 |
Hirschsprung Disease |
|
Adducted thumb, Aganglionic megacolon, Failure to thrive in infancy, Weight loss |
ORPHA:388 |
Reticular Dysgenesis |
|
Failure to thrive, Weight loss |
ORPHA:33355 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis |
ORPHA:2181 |
Sialidosis Type 2 |
|
Tremor, Kyphosis, Ataxia |
ORPHA:87876 |
Erythrokeratodermia Variabilis |
|
Tapered finger, Brachydactyly, Weight loss |
ORPHA:317 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Vocal cord paraly... |
ORPHA:98863 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Torticollis, Broad-based gait, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis |
OMIM:181405 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Facial palsy, Short neck, Kyphosis, Inability to walk, Brain atrophy, Scoliosis, Oculomotor aprax... |
OMIM:301041 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decre... |
ORPHA:2388 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Cerebellar atrophy, Waddling gait, Speech apraxia, Dystonia, Ataxia, Tremor, Inability to walk, C... |
OMIM:615356 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Kyphosis, Hypoplasia of the odontoid process, Vertebral segmentation defect, Scoliosis, Supernume... |
OMIM:609813 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Spasticity |
ORPHA:352490 |
Polyarteritis Nodosa |
|
Polyneuritis, Sensory axonal neuropathy, Weight loss |
ORPHA:767 |
Supranuclear Palsy, Progressive, 1 |
|
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Cerebral atrophy, Granu... |
OMIM:601104 |
Trigeminal Neuralgia |
|
Somatic sensory dysfunction, Paresthesia, Allodynia, Depression |
ORPHA:221091 |
Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Kyphosis, Scoliosis |
ORPHA:276630 |
Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
Aceruloplasminemia |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, C... |
ORPHA:48818 |
Wars2-Related Combined Oxidative Phosphorylation Defect |
|
Cerebellar atrophy, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Ataxia, Tremor, Spast... |
ORPHA:572798 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paresthesia, Paralysis |
OMIM:176000 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Kyphosis, Scoliosis |
ORPHA:3454 |
African Trypanosomiasis |
|
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... |
ORPHA:3385 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity |
OMIM:618527 |
Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Hyperactivity, Scoliosis, Attention deficit hyperactivity disorder, Recurrent hand flapping, Abno... |
OMIM:617600 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp... |
OMIM:618476 |
Srd5A3-Cdg |
|
Cerebellar atrophy, Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy |
ORPHA:324737 |
Inhalational Botulism |
|
Paralysis |
ORPHA:254504 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Kyphosis, Cerebral palsy, Hypertonia, Scoliosis |
OMIM:615834 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Parkinsonism, Decreased nerve conduction velocity, Tremor, Facial diplegia, Fasciculations, Diffi... |
ORPHA:329478 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Anterior Cutaneous Nerve Entrapment Syndrome |
|
Somatic sensory dysfunction, Impaired tactile sensation, Hyperesthesia, Decreased body weight, Al... |
ORPHA:51890 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Vocal cord paralysis, Tip-toe... |
ORPHA:98853 |
Anaplastic Thyroid Carcinoma |
|
Vocal cord paralysis, Weight loss |
ORPHA:142 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Ataxia, Chorea, Spastic tetraplegia, Cerebral atrophy, Gait ataxia, Neurodegeneration, Myoclonus |
OMIM:618321 |
Bone Dysplasia, Lethal Holmgren Type |
|
Metaphyseal dysplasia, Rhizomelia, Micromelia, Abnormal thumb morphology, Abnormal femur morpholo... |
ORPHA:1842 |
Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Cerebral atrophy, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Hypercalcemia, Infantile, 1 |
|
Failure to thrive, Weight loss |
OMIM:143880 |
Fetal Akinesia Deformation Sequence 4 |
|
Kyphosis, Short neck |
OMIM:618393 |
Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
Metatropic Dysplasia |
|
Relatively short spine, Peripheral axonal neuropathy, Kyphoscoliosis, Hypoplasia of the odontoid ... |
OMIM:156530 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Dysdiadocho... |
OMIM:617675 |
Wilson Disease |
|
Increased body weight, Weight loss, Clumsiness, Difficulty walking, Failure to thrive |
ORPHA:905 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Tremor, Kyphosis, Cerebellar vermis atrophy, Gait ataxia |
OMIM:300354 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Somatic sensory dysfunction, Tremor, Dysmetria, Progressive cerebellar ataxia,... |
ORPHA:502423 |
Hypomelanosis Of Ito |
|
Kyphosis, Scoliosis, Cerebral atrophy |
OMIM:300337 |
Gitelman Syndrome |
|
Failure to thrive, Ataxia, Paresthesia, Paralysis |
OMIM:263800 |
Aicardi-Goutieres Syndrome 9 |
|
Spastic tetraparesis, Optic atrophy, Spastic tetraplegia, Spastic diplegia, Weight loss, Cerebral... |
OMIM:619487 |
Myasthenia Gravis |
|
Fatigable weakness, Facial palsy |
OMIM:254200 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy |
OMIM:619797 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Vocal cord paralysis, Tremor |
ORPHA:397744 |
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Camptodactyly of finger, Cachexia, Metacarpal osteolysis, Gait disturbance, Carpal osteolysis |
ORPHA:2774 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Short finger, Paralysis |
OMIM:242100 |
Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
Joubert Syndrome With Renal Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Hand pol... |
ORPHA:220497 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Spasticity, Neuronal loss in central nervous system, Neurodegeneration |
OMIM:616239 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Ataxia, Small for gestational age, Inability to walk, ... |
OMIM:617799 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Cerebellar atrophy, Facial palsy, Spinal rigidity, Kyphosis |
OMIM:615084 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis |
ORPHA:2617 |
Combined Oxidative Phosphorylation Deficiency 15 |
|
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Abnormal pyramid... |
OMIM:614947 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Ataxia, Rhizomelia, Tremor, Cerebral atrophy, Opisthotonus, Choreoathetosis, ... |
OMIM:616271 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Cerebellar atrophy, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, ... |
OMIM:618443 |
Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Exaggerated startle response, Oculogyric crisis, Tongue thrusting, Limb tremor, Chor... |
OMIM:608643 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... |
ORPHA:199351 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Broad-based gait, Cachexia, Paralysis, Spastic paraplegia, Limb ataxi... |
ORPHA:2072 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Kyphosis, Platyspondyly, Thoracolumbar scoliosis |
OMIM:313420 |
Citrullinemia Type Ii |
|
Decreased HDL cholesterol concentration, Acute hyperammonemia, Hypertriglyceridemia, Hyperactivit... |
ORPHA:247585 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia |
ORPHA:93941 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis |
OMIM:618512 |
Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Myoclonus, Loss of ambulation, Righ... |
OMIM:607426 |
Ck Syndrome |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:300831 |
Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Cervical platyspondyly, Waddling gait, Lumbar hyperlordosis, Increased intervertebral space, Hypo... |
ORPHA:93314 |
X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Toe syndactyly, Sandal gap, Camptodactyly of finger, Cachexia, Tremor, Small ha... |
ORPHA:85293 |
Peripheral Primitive Neuroectodermal Tumor |
|
Torticollis, Somatic sensory dysfunction, Spinal cord tumor, Weight loss, Abnormal superior cereb... |
ORPHA:370348 |
Oculopharyngodistal Myopathy 1 |
|
Ataxia, Facial palsy, Tremor, Weight loss, Difficulty walking, Brain atrophy |
OMIM:164310 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome |
|
Exaggerated startle response, Scoliosis |
ORPHA:320406 |
Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
Tremor, Nystagmus, And Duodenal Ulcer |
|
Tremor, Abnormal cerebellum morphology, Kinetic tremor |
OMIM:190310 |
Dystonia 2, Torsion, Autosomal Recessive |
|
Tremor, Torticollis, Blepharospasm, Torsion dystonia |
OMIM:224500 |
Joubert Syndrome With Ocular Defect |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Oculomotor apraxia, Hand pol... |
ORPHA:220493 |
Wolfram Syndrome 1 |
|
Ataxia, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Cerebral atrophy |
OMIM:222300 |
Osteosarcoma |
|
Abnormal femoral metaphysis morphology, Abnormal metaphysis morphology, Abnormal tibial metaphysi... |
ORPHA:668 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Ataxia, Cachexia |
ORPHA:42 |
Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2 |
|
Hyperactivity, Hypokalemia, Self-biting, Hypomagnesemia |
OMIM:618314 |
Histidinemia |
|
Hyperactivity, Hyperhistidinemia |
ORPHA:2157 |
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Arachnodactyly, Cachexia, Small hand, Spastic tetraplegia, Talipes equinovarus, Hyperesthesia, Se... |
ORPHA:371364 |
Cerebral Visual Impairment |
|
Cerebral palsy, Clumsiness, Central nervous system degeneration, Neurodegeneration, Oculomotor ap... |
ORPHA:447788 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Resting tremor, Failure to thrive, Peripheral axonal neuropathy, Ataxia, Faci... |
ORPHA:254892 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Scoliosis |
ORPHA:2598 |
Alg1-Cdg |
|
Cerebellar atrophy, Kyphosis, Scoliosis, Cerebral atrophy |
ORPHA:79327 |
Hyperekplexia-Epilepsy Syndrome |
|
Exaggerated startle response |
ORPHA:163985 |
Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Aqueductal stenosis, Tremor, Chorea, Abnormal pyramidal sign, Tetra... |
ORPHA:58 |
4Q21 Microdeletion Syndrome |
|
Tremor, Kyphosis, Scoliosis, Short neck |
ORPHA:238750 |
Mucopolysaccharidosis, Type Iva |
|
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... |
OMIM:253000 |
Stiff-Person Syndrome |
|
Exaggerated startle response, Lumbar hyperlordosis, Opisthotonus |
OMIM:184850 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Short metacarpal, Toe syndactyly, Periodic paralysis, Short metatarsal, Small hand, Small finger,... |
OMIM:170390 |
Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis |
ORPHA:684 |
Joubert Syndrome |
|
Cerebellar vermis hypoplasia, Aganglionic megacolon, Ataxia, Tremor, Hand polydactyly, Gait distu... |
ORPHA:475 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Hyperactivity, Aggressive behavior, Self-injurious behavior, Scoliosis, Abnormal temper tantrums,... |
ORPHA:449291 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis |
OMIM:615761 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 toe syndactyly, Short foot, ... |
ORPHA:37553 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Kyphosis, Abnormal form of the vertebral bodies, Scolios... |
ORPHA:2635 |
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia |
|
Neurodegeneration |
OMIM:620210 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Cerebellar atrophy, Kyphosis, Hyperlordosis |
ORPHA:3085 |
Myopathic Ehlers-Danlos Syndrome |
|
Kyphoscoliosis, Hyperlordosis, Kyphosis, Tip-toe gait, Scoliosis |
ORPHA:536516 |
Hall-Riggs Syndrome |
|
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis |
OMIM:234250 |
Glutaryl-Coa Dehydrogenase Deficiency |
|
Pallidal degeneration, Dystonia, Poor motor coordination, Ataxia, Tremor, Rigidity, Chorea, Athet... |
ORPHA:25 |
Friedreich Ataxia 2 |
|
Impaired vibratory sensation, Abnormality of the dorsal column of the spinal cord, Abnormal medul... |
OMIM:601992 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1548 |
Orofaciodigital Syndrome Type 6 |
|
Syndactyly, Mesoaxial polydactyly, Cerebellar vermis hypoplasia, Ataxia, Tremor, Central Y-shaped... |
ORPHA:2754 |
Uruguay Faciocardiomusculoskeletal Syndrome |
|
Waddling gait, Kyphoscoliosis, Kyphosis, Difficulty walking, Scoliosis |
OMIM:300280 |
Kleefstra Syndrome 2 |
|
Kyphosis, Scoliosis |
OMIM:617768 |
Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Cachexia, Spasticity, Optic atrophy, Ataxia |
ORPHA:220295 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Waddling gait, Spinal rigidity, Hyperlordosis, Kyphosis, Tip-toe gait, Gait disturbanc... |
ORPHA:98855 |
Triosephosphate Isomerase Deficiency |
|
Optic disc pallor, Tremor, Unsteady gait, Cerebral atrophy, Dystonia, Spasticity, Failure to thrive |
OMIM:615512 |
Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Kyphosis, Scoliosis |
OMIM:618234 |
Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Kyphosis, Gait disturbance, Scoliosis, Difficulty walking, Limb hy... |
ORPHA:90322 |
12Q14 Microdeletion Syndrome |
|
Tremor, Chiari malformation, Syringomyelia, Clinodactyly of the 5th finger, Failure to thrive |
ORPHA:94063 |
Ring Chromosome 10 Syndrome |
|
Sandal gap, Aganglionic megacolon, Cachexia, Tapered finger |
ORPHA:1438 |
Mcdonough Syndrome |
|
Cachexia |
ORPHA:2471 |
Isolated Permanent Neonatal Diabetes Mellitus |
|
Peripheral axonal neuropathy, Ataxia, Weight loss, Apraxia, Failure to thrive |
ORPHA:99885 |
Hip Dysplasia, Beukes Type |
|
Kyphosis, Scoliosis |
ORPHA:2114 |
Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae |
ORPHA:2522 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Waddling gait, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... |
ORPHA:94068 |
Brachyolmia Type 3 |
|
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis |
OMIM:113500 |
Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Hemiplegia/hemiparesis, Gait disturbance, Weight loss |
ORPHA:183 |
Crisponi Syndrome |
|
Kyphosis, Hypertonia, Scoliosis |
ORPHA:1545 |
Giant Cell Arteritis |
|
Optic atrophy, Paresthesia, Ataxia, Weight loss |
ORPHA:397 |
Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Small for gestational age, Hand tremor, Weight loss |
ORPHA:424 |
Spondyloepiphyseal Dysplasia Congenita |
|
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... |
OMIM:183900 |
Ataxia-Telangiectasia |
|
Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, Progressive cerebellar ataxia... |
OMIM:208900 |
Camurati-Engelmann Disease |
|
Waddling gait, Abnormal morphology of the radius, Metaphyseal dysplasia, Ataxia, Facial palsy, Ca... |
ORPHA:1328 |
Young-Onset Parkinson Disease |
|
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... |
ORPHA:2828 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Cerebellar atrophy, Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coc... |
OMIM:300966 |
Lynch Syndrome |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... |
ORPHA:144 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:178148 |
Beta-Ketothiolase Deficiency |
|
Spasticity, Ataxia, Extrapyramidal dyskinesia, Weight loss |
ORPHA:134 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Facial palsy, Spinal rigidity, Kyphosis, Scoliosis |
OMIM:254090 |
Immunodeficiency 27A |
|
Hypoplasia of the femoral head, Weight loss |
OMIM:209950 |
Arthrogryposis, Distal, Type 5 |
|
Kyphosis, Hypertonia, Scoliosis |
OMIM:108145 |
Parkinson Disease 21 |
|
Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:616361 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Neuropathic spinal arthropathy, Kyphosis, Cerebellar atrophy, Spinal rigidity |
ORPHA:352447 |
Congenital Disorder Of Glycosylation, Type Il |
|
Cerebellar atrophy, Kyphosis, Global brain atrophy, Short neck |
OMIM:608776 |
Idiopathic Juvenile Osteoporosis |
|
Kyphosis, Vertebral compression fracture, Gait disturbance |
ORPHA:85193 |
Renpenning Syndrome |
|
Clinodactyly of the 5th finger, Abnormal thumb morphology, Cachexia |
ORPHA:3242 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Cerebellar atrophy, Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Dystonia, Intent... |
OMIM:619708 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Kyphoscoliosis, Scoliosis |
OMIM:618484 |
Mucolipidosis Iii Gamma |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
OMIM:252605 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1858 |
Familial Colorectal Cancer Type X |
|
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Weight loss, Hypertonia, Paresthesia, Gait distu... |
ORPHA:440437 |
Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
Pseudoachondroplasia |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... |
OMIM:177170 |
Weismann-Netter Syndrome |
|
Kyphosis, Horizontal sacrum, Scoliosis |
OMIM:112350 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Cachexia, Hypoesthesia, Weight loss, Distal sensory impairment, Slender build, Allodynia |
OMIM:603041 |
Mucopolysaccharidosis, Type Ivb |
|
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cerv... |
OMIM:253010 |
Gm1-Gangliosidosis, Type I |
|
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Cerebral degeneration,... |
OMIM:230500 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal sign, Optic a... |
OMIM:617527 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Decreased distal sensory nerve action potential, Hammertoe, Distal sensory im... |
OMIM:606071 |
Smith-Mccort Dysplasia 1 |
|
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... |
OMIM:607326 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Kyphosis, Scoliosis |
OMIM:130060 |
Alternating Hemiplegia Of Childhood |
|
Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign, Choreoathetosis, ... |
ORPHA:2131 |
Hyperlysinemia |
|
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... |
ORPHA:2203 |
Autosomal Dominant Hypocalcemia |
|
Fatigable weakness, Optic atrophy, Writer's cramp, Cortical myoclonus |
ORPHA:428 |
Thymic Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Carcinoid tumor, Pancreatic islet cell adenoma, Weight loss |
ORPHA:97289 |
Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression, Diaphyseal sclerosis |
OMIM:259730 |
Plaa-Associated Neurodevelopmental Disorder |
|
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Progressive spastic quadriplegia... |
ORPHA:521426 |
Congenital Tufting Enteropathy |
|
Irritability, Failure to thrive, Weight loss |
ORPHA:92050 |
Idiopathic Bronchiectasis |
|
Clubbing, Cachexia |
ORPHA:60033 |
Dpagt1-Cdg |
|
Ataxia, Arachnodactyly, Akinesia, Tremor, Abnormal cerebellum morphology, Inability to walk, Opti... |
ORPHA:86309 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Bowing of the long bones, Ataxia, Tremor, Metaphyseal sclerosis, Optic atrophy, Abnormal pyramida... |
OMIM:612199 |
Nephroblastoma |
|
Weight loss |
ORPHA:654 |
Developmental And Epileptic Encephalopathy 68 |
|
Exaggerated startle response |
OMIM:618201 |
Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... |
OMIM:313400 |
Developmental And Epileptic Encephalopathy 8 |
|
Exaggerated startle response |
OMIM:300607 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Axial dystonia, Dystonia, Ataxia, Tremor, Chorea, Upper mo... |
ORPHA:646 |
Early Infantile Epileptic Encephalopathy |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Tremor, Choreoathetosis, Myoclonus, Broad finger, D... |
ORPHA:1934 |
Metachromatic Leukodystrophy |
|
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... |
ORPHA:512 |
Pontocerebellar Hypoplasia, Type 17 |
|
Paroxysmal dystonia, Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Takayasu Arteritis |
|
Weight loss |
ORPHA:3287 |
Trisomy 20P |
|
Incoordination, Spina bifida, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Verteb... |
ORPHA:261318 |
Rift Valley Fever |
|
Hemiparesis, Paraparesis, Decerebrate rigidity, Paralysis |
ORPHA:319251 |
Chediak-Higashi Syndrome |
|
Tremor, Ataxia, Gait disturbance, Neurodegeneration |
OMIM:214500 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Sacral dimple, Kyphosis, Scoliosis, Spina bifida occulta, Cerebral cortical atrophy |
OMIM:618291 |
Celiac Disease, Susceptibility To, 1 |
|
Failure to thrive, Ataxia, Weight loss |
OMIM:212750 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Fatigable weakness |
OMIM:159400 |
Osteogenesis Imperfecta, Type Ix |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:259440 |
Arthrogryposis, Distal, Type 4 |
|
Kyphosis, Torticollis, Lumbar scoliosis, Scoliosis |
OMIM:609128 |
Familial Gestational Hyperthyroidism |
|
Hand tremor, Weight loss |
ORPHA:99819 |
Zimmermann-Laband Syndrome 2 |
|
Kyphosis, Short neck |
OMIM:616455 |
Schaaf-Yang Syndrome |
|
Inability to walk, Kyphosis, Scoliosis |
OMIM:615547 |
Coffin-Lowry Syndrome |
|
Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies, Hypertonia, Gait disturbance, Sco... |
ORPHA:192 |
Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss |
ORPHA:1332 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Babinski sign, 2-3 toe syndactyly, Hypertonia, Brain atrophy, Spasticity, Failure to thrive |
OMIM:616539 |
Hyperekplexia 2 |
|
Exaggerated startle response |
OMIM:614619 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
|
Tremor, Failure to thrive, Ataxia |
OMIM:201100 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Glucose-Galactose Malabsorption |
|
Failure to thrive, Weight loss |
ORPHA:35710 |
Polymyositis |
|
Gait disturbance, Weight loss |
ORPHA:732 |
Alpha-Mannosidosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:61 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Ataxia, Spastic hemiparesis, Weight loss, Myoclonus, Spasticity |
ORPHA:20 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... |
ORPHA:508533 |
Poems Syndrome |
|
Papilledema, Metaphyseal sclerosis, Weight loss, Clubbing of fingers, Paresthesia, Hyperesthesia |
ORPHA:2905 |
Whipple Disease |
|
Cachexia, Abnormal pyramidal sign, Myoclonus, Ataxia |
ORPHA:3452 |
Congenital Myopathy 22A, Classic |
|
Waddling gait, Thoracic scoliosis, Spinal rigidity, Kyphosis, Scoliosis, Frequent falls |
OMIM:620351 |
Majeed Syndrome |
|
Failure to thrive, Metaphyseal irregularity, Cachexia, Weight loss |
ORPHA:77297 |
Xfe Progeroid Syndrome |
|
Failure to thrive, Poor coordination, Optic atrophy, Cachexia |
OMIM:610965 |
Rett Syndrome, Congenital Variant |
|
Dystonia, Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity |
OMIM:613454 |
Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Brachydactyly, Cachexia, Short palm |
ORPHA:3217 |
X-Linked Agammaglobulinemia |
|
Failure to thrive, Weight loss |
ORPHA:47 |
Cockayne Syndrome |
|
Cerebellar atrophy, Optic disc pallor, Somatic sensory dysfunction, Peripheral axonal neuropathy,... |
ORPHA:191 |
Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
Hyperekplexia 3 |
|
Exaggerated startle response |
OMIM:614618 |
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Clubbing, Weight loss |
ORPHA:79127 |
Erdheim-Chester Disease |
|
Abnormal cerebellum morphology, Abnormal metaphysis morphology, Ataxia, Weight loss |
ORPHA:35687 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
Emanuel Syndrome |
|
Sacral dimple, Torticollis, Kyphosis, Cerebral atrophy, Scoliosis |
OMIM:609029 |
Leishmaniasis |
|
Weight loss |
ORPHA:507 |
Desbuquois Dysplasia 1 |
|
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis |
OMIM:251450 |
Distal Renal Tubular Acidosis |
|
Failure to thrive, Paralysis |
ORPHA:18 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Beaking of vertebral bodies, Scoliosis |
ORPHA:137834 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Kyphosis, Scoliosis |
OMIM:300676 |
Rheumatoid Arthritis |
|
Swan neck-like deformities of the fingers, Interphalangeal joint erosions, Weight loss |
OMIM:180300 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Lower limb spasticity, Spastic tetraparesis, Tetraplegia, Weight loss, Cerebr... |
OMIM:615846 |
Riddle Syndrome |
|
Ataxia, Weight loss, Clumsiness, Gait disturbance, Poor hand-eye coordination |
ORPHA:420741 |
Neuroendocrine Tumor Of The Colon |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100080 |
Micro Syndrome |
|
Kyphosis, Optic atrophy, Scoliosis, Spasticity, Cerebral cortical atrophy |
ORPHA:2510 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity |
ORPHA:364028 |
Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
Secondary Short Bowel Syndrome |
|
Failure to thrive, Aganglionic megacolon, Weight loss |
ORPHA:95427 |
Rhizomelic Syndrome, Urbach Type |
|
Kyphosis, Abnormal form of the vertebral bodies, Short neck |
ORPHA:3098 |
Mucopolysaccharidosis Type 4 |
|
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... |
ORPHA:582 |
Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
Cronkhite-Canada Syndrome |
|
Cachexia, Tapered finger |
ORPHA:2930 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Inability to walk, Kyphosis, Unsteady gait, Optic atrophy, Scoliosis |
OMIM:618493 |
Bruck Syndrome 1 |
|
Kyphosis, Platyspondyly, Scoliosis, Vertebral wedging |
OMIM:259450 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis |
OMIM:615433 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
Mucopolysaccharidosis, Type Vii |
|
Anterior beaking of lower thoracic vertebrae, Short neck, Hypoplasia of the odontoid process, Kyp... |
OMIM:253220 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Yao Syndrome |
|
Weight loss |
OMIM:617321 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal intervertebral disk morphology, Short neck, Kyphosis, Abnormal form of the vertebral bod... |
ORPHA:2311 |
Adrenocortical Carcinoma |
|
Irritability, Increased body weight, Weight loss |
ORPHA:1501 |
Fountain Syndrome |
|
Spina bifida, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida occulta |
ORPHA:3219 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Exaggerated startle response, Elevated circulating creatine kinase concentration, Scoliosis |
OMIM:253800 |
Thanatophoric Dysplasia |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:2655 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Tremor, Kyphosis, Scoliosis |
OMIM:617061 |
Tetrasomy 12P |
|
Cachexia |
ORPHA:884 |
Subaortic Stenosis-Short Stature Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:3191 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Kyphosis, Generalized dystonia, Scoliosis |
ORPHA:79107 |
Becker Nevus Syndrome |
|
Kyphosis, Spina bifida occulta, Scoliosis |
ORPHA:64755 |
Clark-Baraitser syndrome |
|
Kyphosis, Scoliosis |
OMIM:300602 |
Ruvalcaba Syndrome |
|
Kyphosis, Scoliosis |
OMIM:180870 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Optic nerve hypoplasia, Facial palsy, Kyphosis, Optic atrophy, Gait distur... |
ORPHA:261349 |
Myofibrillar Myopathy 10 |
|
Kyphosis |
OMIM:619040 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Kyphosis, Sacral dimple |
OMIM:618272 |
Neuroendocrine Tumor Of The Rectum |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100081 |
Neuroendocrine Tumor Of Anal Canal |
|
Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100082 |
19Q13.11 Microdeletion Syndrome |
|
Finger syndactyly, Toe syndactyly, Cachexia, Toe clinodactyly, Clinodactyly of the 5th finger, Fa... |
ORPHA:217346 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Tapered finger, Duplication of distal phalanx of toe, Duplicati... |
ORPHA:324540 |
Carney-Stratakis Syndrome |
|
Paraganglioma, Weight loss |
ORPHA:97286 |
Acrodermatitis Enteropathica |
|
Emotional lability, Failure to thrive, Weight loss |
ORPHA:37 |
Lateral Meningocele Syndrome |
|
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ectasia, Syring... |
ORPHA:2789 |
Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
Trisomy 13 |
|
Kyphosis, Optic atrophy, Scoliosis |
ORPHA:3378 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Kyphosis, Spasticity, Scoliosis, Cerebral atrophy |
OMIM:616449 |
Developmental And Epileptic Encephalopathy 49 |
|
Hyperactivity, Exaggerated startle response |
OMIM:617281 |
Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Clubbing of fingers, Clubbing, Paresthesia, Cachexia |
OMIM:175500 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Broad-based gait, Isometric tremor, Ataxia, Clonus, Torticollis, Cerebral palsy, Head titubation,... |
OMIM:619475 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Obesity, Weight loss, Broad thumb |
ORPHA:251071 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Kyphosis, Spina bifida occulta, Short neck |
ORPHA:2983 |
Familial Glucocorticoid Deficiency |
|
Failure to thrive, Tetraplegia, Weight loss |
ORPHA:361 |
Spastic Tetraplegia And Axial Hypotonia, Progressive |
|
Exaggerated startle response |
OMIM:618598 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Hypoplastic vertebral bodies, Platyspondyly, Beaking of vertebral b... |
ORPHA:79255 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Short neck, Kyphosis, Neurodegeneration, Cervical cord compression |
OMIM:309900 |
Aredyld Syndrome |
|
Cachexia, Brachydactyly |
ORPHA:1133 |
Pelger-Huet Anomaly |
|
Kyphosis, Lower limb hypertonia |
OMIM:169400 |
Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
Wolman Disease |
|
Cachexia |
ORPHA:75233 |
Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal metaphysis morphology, Weight loss |
ORPHA:324964 |
Hyperekplexia 1 |
|
Exaggerated startle response |
OMIM:149400 |
Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
Short Syndrome |
|
Short palm, Brachydactyly, Weight loss |
ORPHA:3163 |
Shashi-Pena Syndrome |
|
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia |
OMIM:617190 |
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures |
|
Exaggerated startle response |
OMIM:620114 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Cerebellar atrophy, Ataxia, Tremor, Kyphosis, Dysmetria, Intention tremor |
OMIM:212065 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Tethered cord, Short neck, Kyphosis, Dural ectasia, Syringomyelia, Scoliosis, B... |
OMIM:130720 |
Tay-Sachs Disease |
|
Exaggerated startle response |
OMIM:272800 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Avascular necrosis of the capital femoral epiphysis, Optic atrophy, A... |
ORPHA:581 |
3C Syndrome |
|
Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis |
ORPHA:7 |
Fucosidosis |
|
Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking of lumbar vertebrae, Spa... |
ORPHA:349 |
Stickler Syndrome, Type I |
|
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... |
OMIM:108300 |
Gitelman Syndrome |
|
Failure to thrive, Paresthesia, Paralysis |
ORPHA:358 |
Bruck Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:2771 |
Thanatophoric Dysplasia Type 2 |
|
Kyphosis, Platyspondyly |
ORPHA:93274 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Tremor, Kyphosis, Scoliosis, Gait ataxia |
ORPHA:476126 |
Igg4-Related Aortitis |
|
Weight loss |
ORPHA:449400 |
Harrod Syndrome |
|
Kyphosis, Cerebral cortical atrophy, Scoliosis |
ORPHA:2115 |
Bronchial Neuroendocrine Tumor |
|
Pulmonary carcinoid tumor, Weight loss |
ORPHA:97287 |
Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Inability to walk, Kyphosis, Cerebral atrophy, Scoliosis, Difficulty walking, Spasticity |
ORPHA:464738 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Vertebral fusion, Kyphosis, Hemivertebrae, Abnormal form of the vertebral bodies, Hypoplastic ver... |
ORPHA:2916 |
Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
Dyggve-Melchior-Clausen Disease |
|
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... |
OMIM:223800 |
Alveolar Echinococcosis |
|
Hemiparesis, Ataxia, Weight loss |
ORPHA:284 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Neuroendocrine neoplasm, Carcinoid tumor, Weight loss |
ORPHA:100085 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:1883 |
Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
Urban-Rogers-Meyer Syndrome |
|
Kyphosis, Short neck |
ORPHA:3409 |
Tyrosinemia, Type I |
|
Failure to thrive, Periodic paralysis |
OMIM:276700 |
Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Tremor, Spasticity, Hypertonia, Rigidity |
OMIM:176500 |
Megalocornea-Intellectual Disability Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:2479 |
Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
Fryns-Smeets-Thiry Syndrome |
|
Patellar aplasia, Arachnodactyly, Cachexia |
ORPHA:2058 |
Silver-Russell Syndrome |
|
Failure to thrive in infancy, Sandal gap, Cachexia, Obesity, Abnormality of the calcaneus, Clinod... |
ORPHA:813 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Short middle phalanx of fi... |
OMIM:301030 |
Achondroplasia |
|
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... |
ORPHA:15 |
Trisomy 18 |
|
Camptodactyly of finger, Cachexia, Spina bifida, Postaxial hand polydactyly, Deviation of finger,... |
ORPHA:3380 |
Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism |
OMIM:617660 |
Trisomy 9P |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
ORPHA:236 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Exaggerated startle response, Dysphagia |
OMIM:617301 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia |
ORPHA:1876 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Kyphosis, Short neck |
ORPHA:3082 |
Leukodystrophy, Hypomyelinating, 13 |
|
Exaggerated startle response |
OMIM:616881 |
Familial Thrombocytosis |
|
Paresthesia, Weight loss |
ORPHA:71493 |
15Q24 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:94065 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response |
OMIM:608800 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Kyphoscoliosis, Kyphosis, Abnormal curvature of the vertebral column, Platyspondyly, Scoliosis, T... |
ORPHA:93360 |
Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis |
ORPHA:3121 |
Distal 16P11.2 Microdeletion Syndrome |
|
Kyphosis, Aganglionic megacolon |
ORPHA:261222 |
Sandhoff Disease, Infantile Form |
|
Exaggerated startle response |
ORPHA:309155 |
Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebellar atrophy, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis, Cerebral cortical atrophy |
OMIM:617011 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Kyphoscoliosis, Kyphosis, Hemivertebrae, Cerebral atrophy, Scoliosis, Spasticity |
OMIM:301040 |
Cowden Syndrome 5 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615108 |
Pneumocystosis |
|
Weight loss |
ORPHA:723 |
Schinzel-Giedion Syndrome |
|
Aganglionic megacolon, Failure to thrive in infancy, Overlapping toe, Vocal cord paralysis, Tibia... |
ORPHA:798 |
Neuroendocrine Tumor Of Stomach |
|
Paraganglioma, Carcinoid tumor, Atypical pulmonary carcinoid tumor, Weight loss |
ORPHA:100075 |
Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Abnormal metacarpophalangeal joint morphology, Weight loss |
ORPHA:465508 |
Hurler Syndrome |
|
Short neck, Hypoplasia of the odontoid process, Kyphosis, Neurodegeneration, Biconcave vertebral ... |
OMIM:607014 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Corpus callosum atrophy, Kyphosis, Cerebral atrophy |
OMIM:619244 |
Lymphoid Interstitial Pneumonia |
|
Failure to thrive, Clubbing, Weight loss |
ORPHA:79128 |
Cockayne Syndrome Type 3 |
|
Optic disc pallor, Peripheral axonal neuropathy, Kyphosis, Unsteady gait, Brain atrophy, Scoliosi... |
ORPHA:90324 |
3M Syndrome |
|
Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis |
ORPHA:2616 |
Cowden Syndrome 6 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:615109 |
Schwartz-Jampel Syndrome |
|
Bowing of the long bones, Cachexia, Micromelia, Coxa valga, Coxa vara, Genu valgum, Blepharospasm... |
ORPHA:800 |
Pycnodysostosis |
|
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Spondylolisthesis |
ORPHA:763 |
Al Amyloidosis |
|
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... |
ORPHA:85443 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials,... |
OMIM:216400 |
Imerslund-Gräsbeck Syndrome |
|
Failure to thrive, Weight loss |
ORPHA:35858 |
Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
3-Methylglutaconic Aciduria, Type Viii |
|
Clonus, Tremor, Cerebral atrophy, Hypertonia, Dystonia, Failure to thrive |
OMIM:617248 |
19P13.12 Microdeletion Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:254346 |
Osteogenesis Imperfecta, Type Iii |
|
Kyphosis, Biconcave vertebral bodies, Scoliosis |
OMIM:259420 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Exaggerated startle response, Dystonia |
ORPHA:438216 |
Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss |
ORPHA:679 |
Tsh-Secreting Pituitary Adenoma |
|
Tremor, Periodic hypokalemic paresis, Weight loss |
ORPHA:91347 |
Behçet Disease |
|
Ataxia, Abnormal pyramidal sign, Weight loss, Hemiparesis, Gait disturbance, Paresthesia |
ORPHA:117 |
Osteootohepatoenteric Syndrome |
|
Avascular necrosis of the capital femoral epiphysis, Failure to thrive, Weight loss |
OMIM:619377 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Kyphosis, Scoliosis |
ORPHA:404440 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the odontoid process, K... |
OMIM:602535 |
Gallbladder Neuroendocrine Tumor |
|
Neuroendocrine neoplasm, Weight loss |
ORPHA:100086 |
Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Spontaneous pain sensation |
ORPHA:91139 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Kyphosis, Scoliosis |
OMIM:615381 |
Multiple Myeloma |
|
Spinal cord compression, Paresthesia, Weight loss |
ORPHA:29073 |
Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
Cono-Spondylar Dysplasia |
|
Kyphosis, Poor coordination, Scoliosis, Short neck |
ORPHA:420794 |
Late-Onset Isolated Acth Deficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:199299 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... |
ORPHA:2062 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Short neck |
OMIM:248700 |
Marfanoid Habitus With Situs Inversus |
|
Kyphosis, Scoliosis |
OMIM:609008 |
Acute Promyelocytic Leukemia |
|
Weight loss |
ORPHA:520 |
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities |
|
Exaggerated startle response |
OMIM:617864 |
Solitary Fibrous Tumor |
|
Weight loss |
ORPHA:2126 |
Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
Microphthalmia, Lenz Type |
|
Kyphosis, Optic disc coloboma, Scoliosis, Hyperlordosis |
ORPHA:568 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Kyphosis, Scoliosis |
ORPHA:261144 |
Cowden Syndrome 1 |
|
Kyphosis, Scoliosis, Intention tremor |
OMIM:158350 |
15Q14 Microdeletion Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:261190 |
Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Weight loss |
ORPHA:71273 |
Dysostosis, Stanescu Type |
|
Hyperlordosis, Kyphosis, Scoliosis, Short neck |
ORPHA:1798 |
Thanatophoric Dysplasia Type 1 |
|
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis |
ORPHA:1860 |
Orofaciodigital Syndrome Iii |
|
Kyphosis, Myoclonus |
OMIM:258850 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Thoracic scoliosis |
OMIM:603387 |
Acro-Renal-Mandibular Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae |
ORPHA:958 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Kyphosis, Optic disc coloboma, Vertebral segmentation defect, Scoliosis, Cerebral cor... |
ORPHA:251014 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Clubbing, Weight loss |
ORPHA:747 |
Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
Cockayne Syndrome B |
|
Ataxia, Abnormal peripheral myelination, Abnormal auditory evoked potentials, Tremor, Kyphosis, D... |
OMIM:133540 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Vertebral segmentation defect, Kyphosis, Scoliosis |
ORPHA:96169 |
Weaver Syndrome |
|
Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, Spasticity |
OMIM:277590 |
Wolf-Hirschhorn Syndrome |
|
Sacral dimple, Tethered cord, Ataxia, Kyphosis, Optic atrophy, Abnormal form of the vertebral bod... |
ORPHA:280 |
Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Gait disturbance, Scoliosis |
ORPHA:500055 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1005 |
Distal Triplication 15Q |
|
Kyphosis, Syringomyelia, Scoliosis |
ORPHA:314588 |
16Q24.3 Microdeletion Syndrome |
|
Kyphosis, Optic nerve hypoplasia, Scoliosis |
ORPHA:261250 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Kyphoscoliosis, Kyphosis, Gait ataxia, Difficulty walking, Cerebral cortica... |
ORPHA:457359 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere... |
ORPHA:464311 |
Mucolipidosis Type Ii |
|
Inability to walk, Talipes equinovarus, Weight loss |
ORPHA:576 |
Thymoma |
|
Weight loss |
ORPHA:99867 |
Sandhoff Disease |
|
Exaggerated startle response |
OMIM:268800 |
Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
Multiple Endocrine Neoplasia, Type Iib |
|
Aganglionic megacolon, Hyperlordosis, Kyphosis, Pheochromocytoma, Scoliosis, Ganglioneuroma |
OMIM:162300 |
Holt-Oram Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:392 |
Cystic Echinococcosis |
|
Weight loss |
ORPHA:400 |
Spondyloenchondrodysplasia |
|
Kyphosis, Platyspondyly, Chorea, Spasticity |
ORPHA:1855 |
Cole-Carpenter Syndrome 2 |
|
Kyphosis, Platyspondyly |
OMIM:616294 |
X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Kyphoscoliosis, Kyphosis, Inability to walk, Unsteady gait, Myoclonus |
ORPHA:3063 |
Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Cerebral palsy, Oculogyric crisis, Parkinsonism, Tremor, Hypertonia |
ORPHA:1578 |
Fanconi Anemia |
|
Finger syndactyly, Hypoplasia of the ulna, Toe syndactyly, Aganglionic megacolon, Abnormal morpho... |
ORPHA:84 |
Esophageal Atresia |
|
Vocal cord paresis, Small for gestational age, Failure to thrive in infancy, Hypertonia, Clinodac... |
ORPHA:1199 |
Spondyloperipheral Dysplasia |
|
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly |
OMIM:271700 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Thoracolumbar scoliosis, Short neck, Kyphosis, Fused cervical vertebrae, Gait disturbance, Scolio... |
OMIM:265000 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Optic disc pallor, Kyphosis, Gait disturbance, Scoliosis, Abnormality of the cervical spine, Cere... |
ORPHA:464306 |
Cole-Carpenter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Kyphosis, Platyspondyly, Lumbar hyperlordosis |
OMIM:616482 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Kyphosis, Scoliosis |
OMIM:619951 |
Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
Brucellosis |
|
Small for gestational age, Abnormality of the peripheral nervous system, Chorea, Weight loss, Fai... |
ORPHA:1304 |
Mucopolysaccharidosis Type 6 |
|
Kyphosis, Ovoid vertebral bodies, Short neck |
ORPHA:583 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2215 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Kyphosis, Scoliosis, Spondylolisthesis |
OMIM:610443 |
Pyomyositis |
|
Weight loss |
ORPHA:764 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Fused cervica... |
ORPHA:1724 |
Codas Syndrome |
|
Short humerus, Short metacarpal, Metaphyseal dysplasia, Proximal placement of thumb, Genu valgum,... |
OMIM:600373 |
Hurler-Scheie Syndrome |
|
Kyphosis, Scoliosis |
OMIM:607015 |
Acute Adrenal Insufficiency |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:95409 |
Polycythemia Vera |
|
Weight loss |
ORPHA:729 |
Cohen Syndrome |
|
Kyphosis, Optic atrophy, Scoliosis |
ORPHA:193 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Failure to thrive, Weight loss |
ORPHA:1018 |
Insulin-Resistance Syndrome Type B |
|
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss |
ORPHA:2298 |
Mgat2-Cdg |
|
Kyphosis, Brain atrophy, Scoliosis |
ORPHA:79329 |
Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
Atelis Syndrome 2 |
|
Kyphosis, Sacral dimple, Dysmetria |
OMIM:620185 |
Classic Homocystinuria |
|
Kyphosis, Optic atrophy, Scoliosis, Hemiplegia/hemiparesis |
ORPHA:394 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis, Dural ectasia |
OMIM:616914 |
Multiple Endocrine Neoplasia Type 1 |
|
Pancreatic endocrine tumor, Cranial nerve compression, Insulinoma, Weight loss, Pulmonary carcino... |
ORPHA:652 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Speech apraxia, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Dural ectasi... |
ORPHA:363958 |
Pituitary Adenoma 4, Acth-Secreting |
|
Kyphosis, Vertebral compression fracture, Biconcave vertebral bodies |
OMIM:219090 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Kyphosis, Tip-toe gait, Scoliosis |
OMIM:618050 |
Alstrom Syndrome |
|
Kyphosis, Scoliosis |
OMIM:203800 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Sacral dimple, Broad-based gait, Ataxia, Kyphosis, Hypertonia, Gait disturbance, Scoliosis, Cereb... |
ORPHA:268261 |
Campomelic Dysplasia |
|
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck |
ORPHA:140 |
Prader-Willi Syndrome |
|
Poor fine motor coordination, Kyphosis, Poor gross motor coordination, Scoliosis |
OMIM:176270 |
Degcags Syndrome |
|
Syndactyly, Toe syndactyly, Small for gestational age, Short thumb, Preaxial hand polydactyly, Vo... |
OMIM:619488 |
Genitopalatocardiac Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:2075 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... |
OMIM:618019 |
Noonan Syndrome 14 |
|
Kyphosis, Short neck |
OMIM:619745 |
Osteogenesis Imperfecta |
|
Ataxia, Cervical kyphosis, Kyphosis, Vertebral compression fracture, Abnormal form of the vertebr... |
ORPHA:666 |
Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Weight loss |
ORPHA:100078 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Kyphosis, Scoliosis |
OMIM:617602 |
Norrie Disease |
|
Clonus, Cachexia, Optic atrophy, Hypertonia, Aplasia/Hypoplasia of the cerebellum, Failure to thr... |
ORPHA:649 |
Seckel Syndrome |
|
Clinodactyly of the 5th finger, Sandal gap, Cachexia |
ORPHA:808 |
Lysosomal Acid Lipase Deficiency |
|
Failure to thrive, Cachexia, Weight loss |
ORPHA:275761 |
Zollinger-Ellison Syndrome |
|
Neuroendocrine neoplasm, Glucagonoma, Weight loss |
ORPHA:913 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Speech apraxia, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Scoliosis |
OMIM:300967 |
Pseudoxanthoma Elasticum, Forme Fruste |
|
Kyphosis, Scoliosis |
OMIM:177850 |
Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Waddling gait, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Kyphosis, Irregular vertebral en... |
OMIM:143095 |
Juvenile Dermatomyositis |
|
Weight loss |
ORPHA:93672 |
Kikuchi-Fujimoto Disease |
|
Ataxia, Weight loss |
ORPHA:50918 |
Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Metaphyseal widening, Cerebral atrophy, Genu valgum, Weight loss |
OMIM:219800 |
Osteogenesis Imperfecta, Type Iv |
|
Kyphosis, Biconcave flattened vertebrae, Scoliosis |
OMIM:166220 |
Q Fever |
|
Weight loss |
ORPHA:781 |
Grfoma |
|
Pheochromocytoma, Intestinal carcinoid, Weight loss |
ORPHA:97261 |
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormal metacarpophalangeal joint morphology, Abnormal metatarsal morphology, Weight loss |
ORPHA:85408 |
Williams-Beuren Syndrome |
|
Hallux valgus, Incoordination, Failure to thrive in infancy, Poor coordination, Vocal cord paraly... |
OMIM:194050 |
Caroli Disease |
|
Weight loss |
ORPHA:53035 |
Feingold Syndrome 1 |
|
Short thumb, Short toe, 4-5 toe syndactyly, Vocal cord paralysis, 2-3 toe syndactyly, Short middl... |
OMIM:164280 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis |
OMIM:219080 |
Igg4-Related Retroperitoneal Fibrosis |
|
Weight loss |
ORPHA:49041 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis |
OMIM:610475 |
Bannayan-Riley-Ruvalcaba Syndrome |
|
Broad thumb, Cachexia |
ORPHA:109 |
Aspartylglucosaminuria |
|
Kyphosis, Cerebral atrophy, Spasticity, Platyspondyly, Spondylolysis, Scoliosis, Beaking of verte... |
OMIM:208400 |
Congenital Fiber-Type Disproportion Myopathy |
|
Flexion contracture of finger, Failure to thrive, Talipes equinovarus, Weight loss |
ORPHA:2020 |
Granulomatosis With Polyangiitis |
|
Hemiplegia, Weight loss |
ORPHA:900 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Cachexia, Genu varum |
ORPHA:1969 |
Vipoma |
|
Ganglioneuroma, Weight loss |
ORPHA:97282 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Kyphosis, Thoracic scoliosis, Sacral dimple, Kyphoscoliosis |
ORPHA:536532 |
Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
Castleman Disease |
|
Weight loss |
ORPHA:160 |
Addison Disease |
|
Orthostatic hypotension, Failure to thrive, Weight loss |
ORPHA:85138 |
Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis |
OMIM:300942 |
Familial Pancreatic Carcinoma |
|
Weight loss |
ORPHA:1333 |
Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
Osteogenesis Imperfecta, Type Viii |
|
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis |
OMIM:610915 |
Sarcoidosis, Susceptibility To, 1 |
|
Clubbing, Optic neuropathy, Weight loss |
OMIM:181000 |
Smith-Lemli-Opitz Syndrome |
|
Aganglionic megacolon, Short neck, Kyphosis, Optic atrophy, Abnormal form of the vertebral bodies... |
ORPHA:818 |
Gaucher Disease Type 1 |
|
Kyphosis, Vertebral compression fracture |
ORPHA:77259 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
Primary Sclerosing Cholangitis |
|
Depression, Weight loss |
ORPHA:171 |
Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Kyphosis, Scoliosis |
ORPHA:398069 |
Alkaptonuria |
|
Vertebral fusion, Kyphosis, Low back pain, Intervertebral disc degeneration |
OMIM:203500 |
Hajdu-Cheney Syndrome |
|
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte... |
ORPHA:955 |
Osteoporosis-Pseudoglioma Syndrome |
|
Kyphoscoliosis, Kyphosis, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Vertebral compres... |
OMIM:259770 |
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Exaggerated startle response, Dysphagia |
OMIM:618367 |
Glucagonoma |
|
Depression, Weight loss |
ORPHA:97280 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Kyphosis, Hypertonia, Scoliosis, Short neck |
OMIM:619194 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Kyphosis, Sacral dimple, Scoliosis, Short neck |
OMIM:616894 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Kyphosis, Hemivertebrae, Scoliosis, Short neck |
OMIM:618223 |
1P36 Deletion Syndrome |
|
Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Spinal canal stenosis, Gait disturbance, Scolios... |
ORPHA:1606 |
Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss |
ORPHA:79078 |
Zttk Syndrome |
|
Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis, Spasticity |
OMIM:617140 |
Microsporidiosis |
|
Cachexia, Weight loss |
ORPHA:2552 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies, Irregular vertebral endplates, Posterior scallop... |
ORPHA:3042 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Abnormal auditory evoked potentials, Limb hypertonia |
ORPHA:401973 |
Nijmegen Breakage Syndrome |
|
Neurodegeneration |
OMIM:251260 |
Immunodeficiency 31C |
|
Weight loss |
OMIM:614162 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Exaggerated startle response, Decreased serum iron, Dysphagia, Scoliosis, Dystonia, Stereotypical... |
ORPHA:438213 |
Williams Syndrome |
|
Sacral dimple, Ataxia, Involuntary movements, Hyperlordosis, Atrophy/Degeneration involving the c... |
ORPHA:904 |
Cleidocranial Dysplasia 1 |
|
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis |
OMIM:610489 |
17Q11 Microdeletion Syndrome |
|
Multiple mucosal neuromas, Abnormal central motor function, Kyphosis, Schwannoma, Dural ectasia, ... |
ORPHA:97685 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Kyphosis |
OMIM:239000 |
Frank-Ter Haar Syndrome |
|
Kyphosis, Prominent coccyx, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
Autosomal Recessive Robinow Syndrome |
|
Sacral dimple, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis |
ORPHA:1507 |
Rat-Bite Fever |
|
Weight loss |
ORPHA:31205 |
Postinfectious Vasculitis |
|
Weight loss, Abnormality of the peripheral nervous system |
ORPHA:48435 |
Spondyloarthropathy, Susceptibility To, 1 |
|
Back pain, Kyphosis, Sacroiliac arthritis |
OMIM:106300 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Kyphosis, Scoliosis |
OMIM:619557 |
Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
Pulmonary Alveolar Microlithiasis |
|
Clubbing of fingers, Stippled calcification in carpal bones, Weight loss |
ORPHA:60025 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pancreatic endocrine tumor, Increased body weight, Weight loss, Pulmonary carcinoid tumor, Trunca... |
ORPHA:99889 |
Juvenile Polyposis Of Infancy |
|
Clubbing of fingers, Broad thumb, Cachexia, Broad phalanx of the toes |
ORPHA:79076 |
Hutchinson-Gilford Progeria Syndrome |
|
Coxa valga, Weight loss, Osteolytic defects of the distal phalanges of the hand, Shuffling gait, ... |
ORPHA:740 |
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities |
|
Exaggerated startle response, Dysphagia, Attention deficit hyperactivity disorder, Scoliosis, Abn... |
OMIM:619522 |
Neurofibromatosis Type 1 |
|
Ataxia, Kyphosis, Pheochromocytoma, Scoliosis, Plexiform neurofibroma, Spinal neurofibroma |
ORPHA:636 |
Marfan Syndrome |
|
Arachnodactyly, Slender build, Cachexia, Dural ectasia |
ORPHA:558 |
Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2769 |
Monosomy 9Q22.3 |
|
Kyphosis, Abnormality of the vertebral column, Short neck |
ORPHA:77301 |
Stickler Syndrome |
|
Arachnodactyly, Cachexia, Hemiplegia/hemiparesis, Genu valgum, Abnormal diaphysis morphology, Sle... |
ORPHA:828 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Kyphosis, Scoliosis |
OMIM:619005 |
Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
Mend Syndrome |
|
Kyphosis, Sacral dimple, Hypertonia |
OMIM:300960 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Kyphosis, Difficulty walking, Scoliosis |
OMIM:619482 |
Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
Cowden Syndrome |
|
Kyphosis, Ataxia, Scoliosis |
ORPHA:201 |
Parathyroid Carcinoma |
|
Weight loss |
ORPHA:143 |
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
Poland Syndrome |
|
Short neck, Kyphosis, Hemivertebrae, Vertebral segmentation defect, Scoliosis, Spina bifida occulta |
ORPHA:2911 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Subcortical ... |
ORPHA:2273 |
Oculocerebrorenal Syndrome Of Lowe |
|
Kyphosis, Platyspondyly, Clonus, Scoliosis |
ORPHA:534 |
Ramon Syndrome |
|
Kyphosis, Optic disc pallor, Scoliosis |
OMIM:266270 |
Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2461 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Kyphosis, Facial palsy, Scoliosis |
ORPHA:2658 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Kyphosis, Scoliosis |
OMIM:619718 |
Dermatomyositis |
|
Weight loss |
ORPHA:221 |
Cerebrocostomandibular Syndrome |
|
Kyphosis, Spina bifida |
ORPHA:1393 |
Nijmegen Breakage Syndrome |
|
Cachexia |
ORPHA:647 |
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Failure to thrive, Premature fusion of the radial epiphyseal plates, Weight loss |
ORPHA:90794 |
Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Weight loss |
ORPHA:91500 |
Nocardiosis |
|
Weight loss |
ORPHA:31204 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Orthostatic hypotension |
OMIM:304150 |
Primrose Syndrome |
|
Neurodegeneration, Truncal obesity, Ataxia |
OMIM:259050 |
Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
Coffin-Siris Syndrome 1 |
|
Sacral dimple, Kyphosis, Gait ataxia, Scoliosis, Spina bifida occulta |
OMIM:135900 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Kyphosis, Lumbar hyperlordosis |
ORPHA:2232 |
Primary Fanconi Renotubular Syndrome |
|
Weight loss |
ORPHA:3337 |
Wolf-Hirschhorn Syndrome |
|
Vertebral fusion, Sacral dimple, Tethered cord, Kyphosis, Abnormal form of the vertebral bodies, ... |
OMIM:194190 |
Sarcoidosis |
|
Facial palsy, Weight loss |
ORPHA:797 |
Shprintzen Omphalocele Syndrome |
|
Kyphosis, Lumbar hyperlordosis, Scoliosis |
OMIM:182210 |
Occipital Horn Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
ORPHA:198 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... |
OMIM:300106 |
Proteus Syndrome |
|
Hallux valgus, Finger syndactyly, Macrodactyly, Cachexia, Metatarsus valgus, Abnormal finger morp... |
ORPHA:744 |
Acromegaly |
|
Kyphosis, Cerebral palsy, Spinal canal stenosis |
ORPHA:963 |
Somatomammotropinoma |
|
Kyphosis, Cerebral palsy, Spinal canal stenosis |
ORPHA:314769 |
Sotos Syndrome |
|
Sacrococcygeal teratoma, Aganglionic megacolon, Tremor, Kyphosis, Poor coordination, Cerebral atr... |
ORPHA:821 |
Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
Chronic Graft Versus Host Disease |
|
Weight loss |
ORPHA:99921 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99413 |
Mosaic Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99228 |
Monosomy X |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:99226 |
Coffin-Lowry Syndrome |
|
Kyphosis, Scoliosis, Lumbar kyphosis |
OMIM:303600 |
Turner Syndrome |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:881 |
Lowe Oculocerebrorenal Syndrome |
|
Kyphosis, Platyspondyly, Scoliosis |
OMIM:309000 |
Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
Branchiooculofacial Syndrome |
|
Hyperlordosis, Kyphosis, Facial palsy, Short neck |
OMIM:113620 |
Wrinkly Skin Syndrome |
|
Kyphosis, Scoliosis |
OMIM:278250 |
Viss Syndrome |
|
Kyphosis, Butterfly vertebrae, Scoliosis |
OMIM:619472 |
Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
Alström Syndrome |
|
Optic disc pallor, Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Poor fine motor coordina... |
ORPHA:64 |
Yunis-Varon Syndrome |
|
Kyphosis, Anterior concavity of thoracic vertebrae |
OMIM:216340 |