| Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Upper limb muscle weakness, Lower limb muscle weakness, Foot dorsiflexor weakness, Distal sensory... |
OMIM:616155 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Peripheral axonal de... |
OMIM:606482 |
| Spinocerebellar Ataxia Type 4 |
|
Impaired vibratory sensation, Sensory axonal neuropathy, Motor axonal neuropathy, Impaired tactil... |
ORPHA:98765 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Tip-toe gait, Fasciculations, Axonal degeneration/regeneration, Distal sensory impairment, Axonal... |
OMIM:614436 |
| Mitochondrial Dna Depletion Syndrome 18 |
|
Tongue fasciculations, Falls, Failure to thrive, Foot dorsiflexor weakness, Axonal degeneration, ... |
OMIM:618811 |
| Spastic Paraplegia 18B, Autosomal Recessive |
|
Spastic paraplegia, Seizure, Lower limb muscle weakness, Inability to walk, Ankle clonus, Babinsk... |
OMIM:611225 |
| Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Hand tremor, Fasciculations, Distal sensory impairment, Decreased number of peripheral myelinated... |
OMIM:604484 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal upper limb muscle weakness, Difficulty walking, Distal sensory impairment, Peripheral hypo... |
OMIM:605285 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Seizure, Axonal... |
OMIM:618138 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Cerebellar atrophy, Tip-toe gait, Hand tremor, Incoordination, Difficulty walking, Distal sensory... |
OMIM:302800 |
| Charcot-Marie-Tooth Disease, Type 4A |
|
Hypertrophic nerve changes, CNS hypomyelination, Basal lamina onion bulb formation, Decreased num... |
OMIM:214400 |
| Posterior Column Ataxia |
|
Impaired vibratory sensation, Scoliosis, Impaired proprioception, Ataxia |
OMIM:176250 |
| Huntington Disease |
|
Cerebellar atrophy, Seizure, Chorea, Gait ataxia, Rigidity, Gliosis, Neuronal loss in central ner... |
OMIM:143100 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Muscle weakness, Chorea, Limb ataxia, Gait ataxia, Distal sensory impairment,... |
OMIM:208920 |
| Charcot-Marie-Tooth Disease, Type 4C |
|
Tongue fasciculations, Basal lamina onion bulb formation, Upper limb muscle weakness, Difficulty ... |
OMIM:601596 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Difficulty walking, Paralysis, Distal lower limb muscle weakness, Paresis of extensor muscles of ... |
OMIM:608634 |
| Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Spasticity, Shuffling gait, Global brain atrophy, Somatic sensory dysfunction, Seizure, Rigidity,... |
OMIM:221820 |
| Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures |
|
Slender build, Muscle weakness, Bilateral tonic-clonic seizure, Ataxia |
OMIM:617709 |
| Developmental And Epileptic Encephalopathy 14 |
|
Cerebral cortical atrophy, Spasticity, Focal autonomic seizure, Generalized tonic seizure, Clonus... |
OMIM:614959 |
| Charcot-Marie-Tooth Disease Type 2B1 |
|
Proximal muscle weakness in lower limbs, Distal upper limb muscle weakness, Sensory axonal neurop... |
ORPHA:98856 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic atrophy, Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Proximal... |
OMIM:617087 |
| Spinocerebellar Ataxia 17 |
|
Broad-based gait, Cerebellar atrophy, Seizure, Chorea, Limb ataxia, Positive Romberg sign, Myoclo... |
OMIM:607136 |
| Pelizaeus-Merzbacher Disease, Transitional Form |
|
CNS hypomyelination |
ORPHA:280224 |
| Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Difficulty walking, Distal sensory impairment, Paralysis, Peripheral axonal neuropathy, Distal mu... |
OMIM:613710 |
| Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Amyotrophic lateral sclerosis, Difficulty walking, Axonal degeneration, Abnormal lower motor neur... |
OMIM:602433 |
| Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Myoclonus, Tremor, Peripheral axonal neuropa... |
OMIM:615957 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Upper limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decrease... |
OMIM:605588 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal lower limb muscle weakness, Paralysis, Distal muscle weakness, Paresis of extensor muscles... |
OMIM:158590 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Dysmetria, Tremo... |
OMIM:213200 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Broad-based gait, Inability to walk, Axonal degeneration, Decreased number of peripheral myelinat... |
OMIM:615490 |
| Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Vocal cord paresis, Proximal muscle weakness in lower limbs, Peripheral demyelination, Distal sen... |
ORPHA:101097 |
| Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Paralysis, Gliosis, Axonal loss, Athetosis |
OMIM:300857 |
| Hypomyelination-Congenital Cataract Syndrome |
|
Cerebral hypomyelination |
ORPHA:85163 |
| Seizures, Early-Onset, With Neurodegeneration And Brain Calcifications |
|
Delayed CNS myelination, Cerebral atrophy |
OMIM:618875 |
| Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... |
OMIM:607706 |
| Spinocerebellar Ataxia, Autosomal Recessive 27 |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Gait imbalance, Gait ataxia, Spastic a... |
OMIM:618369 |
| Developmental And Epileptic Encephalopathy 59 |
|
Inability to walk, Focal clonic seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clonic ... |
OMIM:617904 |
| Hypomyelination-Hypogonadotropic Hypogonadism-Hypodontia Syndrome |
|
CNS hypomyelination |
ORPHA:88637 |
| Leukodystrophy, Hypomyelinating, 23, With Ataxia, Deafness, Liver Dysfunction, And Dilated Cardiomyopathy |
|
Peripheral axonal neuropathy, CNS hypomyelination |
OMIM:619688 |
| Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type) |
|
Myoclonic seizure, Increased neuronal autofluorescent lipopigment, Seizure, Myoclonus, Abnormalit... |
OMIM:162350 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Muscle weakness, Amyotrophic lateral sclerosis, Tetraparesis, Cerebral atrophy, Abnormal lower mo... |
OMIM:105550 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Generalized myoclonic seizure, Status epilepticus, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:22 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Involuntary movements, Chorea, Parkinsonism, Gait disturbance, Caudate... |
ORPHA:98934 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Vocal cord paresis, Broad-based gait, Basal lamina onion bulb formation, Difficulty walking, Peri... |
OMIM:614895 |
| Spastic Paraplegia 18A, Autosomal Dominant |
|
Upper limb muscle weakness, Seizure, Lower limb muscle weakness, Paresthesia, Ankle clonus, Loss ... |
OMIM:620512 |
| Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Tip-toe gait, Seizure, Proximal muscle weakness, Lower limb spasticity, Gait disturbance, Hyperlo... |
OMIM:617404 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Global brain atrophy, Tetraparesis, Fasciculations, Abnormality of extrapyramidal motor function,... |
ORPHA:275872 |
| Spinocerebellar Ataxia 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Incoordination, Difficulty walking, Neck muscle weakn... |
OMIM:613908 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2X |
|
Proximal muscle weakness in lower limbs, Spasticity, Proximal muscle weakness in upper limbs, Dis... |
OMIM:616668 |
| Epilepsy, Progressive Myoclonic, 6 |
|
Atonic seizure, Generalized non-motor (absence) seizure, Difficulty walking, Myoclonus, Tremor, L... |
OMIM:614018 |
| Encephalopathy, Familial, With Neuroserpin Inclusion Bodies |
|
Cerebral atrophy, Seizure, Myoclonus, Distal sensory impairment, Abnormality of extrapyramidal mo... |
OMIM:604218 |
| Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Broad-based gait, Generalized myoclonic seizure, Cerebral atrophy, Seizure, Inability to walk, Lu... |
OMIM:616756 |
| Epilepsy, Progressive Myoclonic, 8 |
|
Action myoclonus, Falls, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait disturbance, Atrophy/De... |
OMIM:616230 |
| Severe Motor And Intellectual Disabilities-Sensorineural Deafness-Dystonia Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral hypom... |
ORPHA:369939 |
| Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Cerebral atrophy, Abnormal lower motor neuron morphology, Paralysi... |
OMIM:105500 |
| Myoclonic Epilepsy, Familial Infantile |
|
Generalized myoclonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 ye... |
OMIM:605021 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Gait ataxia, Myoclonus, Tremor, Abnormali... |
OMIM:615362 |
| Intellectual Developmental Disorder, X-Linked 82 |
|
Scoliosis, Kyphosis, Seizure |
OMIM:300518 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonic seizure, Cerebellar atrophy, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia |
OMIM:616187 |
| Null Syndrome |
|
Optic atrophy, Peripheral demyelination, CNS hypomyelination, Demyelinating peripheral neuropathy |
ORPHA:280234 |
| Huntington Disease-Like 1 |
|
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Seizure, Incoordination, Ch... |
ORPHA:157941 |
| Leukodystrophy, Hypomyelinating, 11 |
|
CNS hypomyelination, Leukodystrophy, Cerebellar atrophy |
OMIM:616494 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Distal muscle weakness, Scoliosis, Kyp... |
ORPHA:101078 |
| Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Impaired pain sensation, Obesity, Foot dorsiflexor weakness, Distal sensory impairment, Loss of a... |
OMIM:618124 |
| Episodic Ataxia, Type 8 |
|
Episodic ataxia, Ataxia, Intention tremor, Muscle weakness, Slurred speech |
OMIM:616055 |
| Ceroid Lipofuscinosis, Neuronal, 8 |
|
Cerebellar atrophy, Cerebral atrophy, Increased neuronal autofluorescent lipopigment, Seizure, My... |
OMIM:600143 |
| Dravet Syndrome |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:607208 |
| Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Truncal titubation, Seizure, Impaired vibration sensation in the lower limbs, Positive Romberg si... |
ORPHA:88628 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Foot dorsiflexor weakness, Axonal degeneration, Peripheral axonal neuropathy, Diaphragmatic paral... |
OMIM:620011 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Sensory axonal neuropathy, Atonic seizure, Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia, G... |
OMIM:612437 |
| X-Linked Progressive Cerebellar Ataxia |
|
Frequent falls, Cerebellar vermis atrophy, Limb ataxia, Intention tremor, Dysmetria, Foot dorsifl... |
ORPHA:1175 |
| Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type) |
|
Ataxia, Cerebral atrophy, Myoclonus, Abnormality of extrapyramidal motor function, Status epilept... |
OMIM:204300 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Broad-based gait, Tip-toe gait, Lower limb muscle weakne... |
OMIM:615290 |
| Spinocerebellar Ataxia Type 35 |
|
Cerebellar atrophy, Pseudobulbar paralysis, Difficulty walking, Neck muscle weakness, Limb ataxia... |
ORPHA:276193 |
| Yoon-Bellen Neurodevelopmental Syndrome |
|
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Inability to walk, Infantile spas... |
OMIM:619701 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal sensory impairment, Paresis of extensor muscles of the big toe, Poor fine motor coordinati... |
ORPHA:99947 |
| Periventricular Nodular Heterotopia 8 |
|
Cerebellar vermis atrophy, Delayed CNS myelination |
OMIM:618185 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Limb muscle weakness, Axonal degeneration/regeneration, Distal sensory impairment, Decreased numb... |
OMIM:118210 |
| Hemimegalencephaly |
|
Optic atrophy, Seizure, Oculomotor nerve palsy, Epileptic spasm, Myoclonus, Hemiparesis, Gliosis,... |
ORPHA:99802 |
| Spinocerebellar Ataxia, Autosomal Recessive 12 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxi... |
OMIM:614322 |
| Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Foot dorsiflexor weakness, Peripheral axo... |
OMIM:617207 |
| Developmental And Epileptic Encephalopathy 5 |
|
Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Atrophy/Deg... |
OMIM:613477 |
| Epilepsy, Familial Temporal Lobe, 1 |
|
Focal automatism seizure, Focal aware sensory seizure with auditory features, Focal impaired awar... |
OMIM:600512 |
| Spinocerebellar Ataxia 41 |
|
Cerebellar atrophy, Cerebellar vermis atrophy, Gait ataxia, Ataxia, Unsteady gait |
OMIM:616410 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Difficulty walking, Tremor, Vocal cord paralysis, Distal muscle weakness |
OMIM:158580 |
| Mitochondrial Complex I Deficiency, Nuclear Type 12 |
|
Generalized myoclonic seizure, Cerebellar atrophy, Seizure, Gait imbalance, Myoclonus, Proximal m... |
OMIM:301020 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Spasticity, Proximal muscle weakness in upper limbs, Seizure, Abolished vibration sense, Lower li... |
OMIM:620068 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Spasticity, Falls, Cerebellar atrophy, Cerebral atrophy, Seizure, Action tremor, Rigidity, Babins... |
OMIM:300423 |
| Juvenile Huntington Disease |
|
Broad-based gait, Cerebellar atrophy, Seizure, Cerebellar vermis atrophy, Chorea, Myoclonus, Gait... |
ORPHA:248111 |
| Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Seizure, Neurodegeneration, Generalized musc... |
OMIM:256600 |
| Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Cerebral atrophy, Chorea, Peripheral demyelination, Kyphoscoliosis, Peripheral hypomyelination, B... |
OMIM:604168 |
| Sporadic Creutzfeldt-Jakob Disease |
|
Spasticity, Cerebral atrophy, Astrocytosis, Myoclonus, Abnormality of extrapyramidal motor functi... |
ORPHA:204 |
| Developmental And Epileptic Encephalopathy 11 |
|
Spastic tetraplegia, Global brain atrophy, Hyperkinetic movements, Bilateral tonic-clonic seizure... |
OMIM:613721 |
| Spastic Paraplegia 46, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebellar atrophy, Hand tremor, Cerebral atrop... |
OMIM:614409 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Limb muscle weakness, Axonal degeneration/regeneration, Distal sensory... |
OMIM:609260 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Cerebellar atrophy, Seizure, Fasciculations, Lower limb muscle weakness, Myoclonus, G... |
OMIM:607317 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Optic atrophy, Impaired pain sensation, Tremor, Gait disturbance, Paraparesis, Ataxia, Scoliosis,... |
ORPHA:99014 |
| Sandhoff Disease |
|
Failure to thrive, Seizure, Ataxia, Kyphosis, Muscle weakness |
ORPHA:796 |
| Spastic Paraplegia 76, Autosomal Recessive |
|
Spastic paraplegia, Sensory axonal neuropathy, Lower limb muscle weakness, Difficulty walking, Ga... |
OMIM:616907 |
| Nemaline Myopathy 7 |
|
Shoulder girdle muscle weakness, Lumbar hyperlordosis, Neck muscle weakness, Limb muscle weakness... |
OMIM:610687 |
| Developmental And Epileptic Encephalopathy 15 |
|
Myoclonic seizure, Inability to walk, Focal clonic seizure, Epileptic spasm, Tonic seizure, Bilat... |
OMIM:615006 |
| L-2-Hydroxyglutaric Aciduria |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Seizure, Abnormality of extrapyramidal m... |
OMIM:236792 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Focal sensory seizure with visual features, Myoclonus, Tremor, Hippocampal sclerosis, Bilateral t... |
OMIM:615400 |
| Familial Infantile Bilateral Striatal Necrosis |
|
Spasticity, Lower limb muscle weakness, Tetraparesis, Loss of ambulation, Ataxia, Spastic tetrapa... |
ORPHA:225154 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Vocal cord paralysis, Lower limb ... |
OMIM:607641 |
| Glut1 Deficiency Syndrome 1 |
|
Spasticity, Seizure, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis |
OMIM:606777 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Failure to thrive, Limb muscle weakness, Axonal degeneration, Diaphragmatic weakness, Peripheral ... |
OMIM:604320 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy |
|
Cerebral cortical atrophy, Broad-based gait, Cerebellar atrophy, Hand tremor, Gait ataxia, Atroph... |
OMIM:617862 |
| Deafness, Dystonia, And Cerebral Hypomyelination |
|
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy, Cerebral atrophy |
OMIM:300475 |
| Developmental And Epileptic Encephalopathy 31A |
|
Myoclonic seizure, Difficulty walking, Inability to walk, Epileptic spasm, Diffuse cerebral atrop... |
OMIM:616346 |
| Developmental And Epileptic Encephalopathy 79 |
|
Cerebral cortical atrophy, Frontotemporal cerebral atrophy, CNS hypomyelination |
OMIM:618559 |
| Spinocerebellar Ataxia 48 |
|
Cerebellar atrophy, Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Cachexia... |
OMIM:618093 |
| Epilepsy, Progressive Myoclonic, 9 |
|
Generalized myoclonic seizure, Frequent falls, Myoclonus, Gait ataxia, Bilateral tonic-clonic sei... |
OMIM:616540 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Hypertrophic nerve changes, Gait ataxia, Action tremor, Distal sensor... |
OMIM:180800 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Spasticity, Cerebral atrophy, Seizure, Peripheral demyelination, Myoclonus, Babinski sign, Apraxi... |
OMIM:221770 |
| Oculopharyngodistal Myopathy |
|
Vocal cord paresis, Proximal muscle weakness in upper limbs, Ophthalmoparesis, Distal upper limb ... |
ORPHA:98897 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Myoclonic seizure, Generalized myoclonic seizure, Seizure, Generalized non-motor (absence) seizur... |
OMIM:617831 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Generalized myoclonic seizure, Cerebellar atrophy, Focal impaired awareness seizur... |
ORPHA:330050 |
| Spinocerebellar Ataxia 40 |
|
Broad-based gait, Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Tremor, Dysmetria, Ankle ... |
OMIM:616053 |
| Developmental And Epileptic Encephalopathy 37 |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Cogwheel rigidity, Myoclonus, Rigidity,... |
OMIM:616981 |
| Congenital Disorder Of Glycosylation, Type Iaa |
|
Cerebral cortical atrophy, Failure to thrive, Pseudobulbar paralysis, Appendicular spasticity, Bi... |
OMIM:617082 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Cerebellar atrophy, Gait ataxia, Limb muscle weakness, Dysmetria, Distal sensory impairment, Trem... |
OMIM:618387 |
| Charcot-Marie-Tooth Disease Type 4A |
|
Vocal cord paresis, Poor fine motor coordination, Impaired pain sensation, Quadriceps muscle weak... |
ORPHA:99948 |
| Spastic Paraplegia 30, Autosomal Dominant |
|
Spastic paraplegia, Cerebellar atrophy, Lower limb muscle weakness, Dysmetria, Ankle clonus, Babi... |
OMIM:610357 |
| Multiple Mitochondrial Dysfunctions Syndrome 4 |
|
Optic atrophy, Leukodystrophy |
OMIM:616370 |
| X-Linked Intellectual Disability, Hedera Type |
|
Cerebellar atrophy, Frequent falls, Inability to walk, Extrapyramidal muscular rigidity, Obesity,... |
ORPHA:93952 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Spasticity, Seizure, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Stat... |
ORPHA:71277 |
| Roussy-Lévy Syndrome |
|
Impaired vibratory sensation, Somatic sensory dysfunction, Impaired pain sensation, Frequent fall... |
ORPHA:3115 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Leukodystrophy |
DECIPHER:59 |
| Diaminopentanuria |
|
Neurodegeneration, Spasticity, Seizure, Ataxia |
OMIM:222350 |
| Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant |
|
Cerebellar atrophy, Cerebral atrophy, Clumsiness, Bilateral tonic-clonic seizure, Increased neuro... |
OMIM:610003 |
| Spastic Ataxia 8, Autosomal Recessive, With Hypomyelinating Leukodystrophy |
|
CNS hypomyelination, Leukodystrophy, Cerebellar atrophy |
OMIM:617560 |
| Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum |
|
Cerebellar atrophy, Inability to walk, Gait ataxia, Tremor, Dysmetria, Rigidity, Tonic seizure, G... |
OMIM:618090 |
| X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Cerebellar atrophy, Seizure, Gait disturbance, Ataxia, Scoliosis, Kyphosis, Muscle weakness |
ORPHA:85317 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Spasticity, Seizure, Myoclonus, Gliosis, Hypertonia |
OMIM:225753 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Impaired pain sensation, Tremor, Gait disturbance, Ataxia, Scoliosis, Kyphosis |
ORPHA:101075 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Limb ataxia, Gait ataxia, Dysmetria, Abnormality o... |
OMIM:610743 |
| Spinocerebellar Ataxia Type 37 |
|
Diffuse cerebellar atrophy, Falls, Somatic sensory dysfunction, Cerebellar vermis atrophy, Myoclo... |
ORPHA:363710 |
| Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Seizure, Inability t... |
OMIM:617672 |
| Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Fatigable weakness, Gait disturbance, Hyperlordosis, Periodic paralysis |
OMIM:614198 |
| Developmental Delay With Or Without Epilepsy |
|
Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Generalized non-motor (absence... |
OMIM:620540 |
| Cdkl5-Deficiency Disorder |
|
Impaired pain sensation, Difficulty walking, Infantile spasms, Focal-onset seizure, Generalized t... |
ORPHA:505652 |
| Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Seizure, Slender build, Generalized muscle weakness, Progressive external ophthalmoplegia, Cachex... |
OMIM:613662 |
| Charcot-Marie-Tooth Disease Type 1A |
|
Spontaneous pain sensation, Gait imbalance, Paresthesia, Distal sensory impairment, Kyphoscoliosi... |
ORPHA:101081 |
| Generalized Epilepsy With Febrile Seizures-Plus |
|
Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-... |
ORPHA:36387 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Absence seizure with eyelid myoclonia, Bilateral tonic-cl... |
OMIM:618587 |
| Tremor, Hereditary Essential, 6 |
|
Cerebellar atrophy, Leukodystrophy |
OMIM:618866 |
| Lopes-Maciel-Rodan Syndrome |
|
Spasticity, Cerebellar atrophy, Focal impaired awareness seizure, Cerebral atrophy, Seizure, Cere... |
OMIM:617435 |
| Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis, Paresthesia, Failure to thrive |
OMIM:612740 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate G |
|
Spasticity, Falls, Lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Pro... |
OMIM:617882 |
| Benign Familial Infantile Epilepsy |
|
Focal head nodding automatism seizure, Neonatal seizure, Limb myoclonus, Generalized non-motor (a... |
ORPHA:306 |
| Nkx6-2-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Cerebral atrophy, CNS hypomyelination, Leukodystrophy, Cerebellar atrophy |
ORPHA:527497 |
| Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Spasticity, Generalized myoclonic seizure, Focal myoclonic seizure, Progressive spastic paraplegi... |
ORPHA:464282 |
| Malignant Migrating Focal Seizures Of Infancy |
|
Myoclonic seizure, Focal impaired awareness seizure, Failure to thrive, Cerebral atrophy, Inabili... |
ORPHA:293181 |
| Alexander Disease Type I |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Cachexia, Abnormal pyramidal sign, At... |
ORPHA:363717 |
| Spastic Paraplegia 86, Autosomal Recessive |
|
Spastic paraplegia, Febrile seizure (within the age range of 3 months to 6 years), Inability to w... |
OMIM:619735 |
| Huntington Disease |
|
Involuntary movements, Degeneration of the striatum, Decreased body mass index, Cerebral atrophy,... |
ORPHA:399 |
| Kaya-Barakat-Masson Syndrome |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:619125 |
| Spastic Paraplegia 50, Autosomal Recessive |
|
Cerebellar atrophy, Cerebral palsy, Seizure, Babinski sign, Limb hypertonia, Gliosis, Ataxia, Opt... |
OMIM:612936 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Generalized myoclonic seizure, Focal-onset seizure, Rigidity, Babinski sign, Clonu... |
OMIM:614498 |
| Spastic Paraplegia 10, Autosomal Dominant |
|
Spastic paraplegia, Upper limb muscle weakness, Lower limb muscle weakness, Impaired vibration se... |
OMIM:604187 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Ataxia, Peripheral axonal neuropathy, Tremor, Kyphoscoliosis |
OMIM:619099 |
| Machado-Joseph Disease |
|
Impaired vibratory sensation, Spasticity, External ophthalmoplegia, Cerebellar atrophy, Facial-li... |
OMIM:109150 |
| Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay |
|
Inability to walk, Lower limb spasticity, Bilateral tonic-clonic seizure |
OMIM:619639 |
| Immunodeficiency 83, Susceptibility To Viral Infections |
|
Gliosis, Seizure, Hemiparesis |
OMIM:613002 |
| Leukoencephalopathy With Vanishing White Matter 1 |
|
Optic atrophy, Spasticity, Seizure, Gait disturbance, Gliosis, Unsteady gait |
OMIM:603896 |
| Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Frequent falls, Proximal muscle weakness, Short neck, Hyperlordosis, Respiratory insufficiency du... |
OMIM:300718 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Cerebellar atrophy, Head tremor, Gait ataxia, Action tremor, Ataxia, ... |
ORPHA:98769 |
| Hypertrophic Neuropathy Of Dejerine-Sottas |
|
Tongue fasciculations, Broad-based gait, Hypertrophic nerve changes, Peripheral demyelination, My... |
OMIM:145900 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Tongue fasciculations, Cerebellar atrophy, Cerebral atrophy, Generalized non-motor (absence) seiz... |
OMIM:618170 |
| Developmental And Epileptic Encephalopathy 33 |
|
Myoclonic seizure, Typical absence seizure, Seizure, Incoordination, Epileptic spasm, Bilateral t... |
OMIM:616409 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 9 |
|
Typical absence seizure, Bilateral tonic-clonic seizure on awakening, Episodic ataxia, Generalize... |
OMIM:607682 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, Spasticity, Failure to thrive, Seizure, Ophthalmoplegia, Gliosis, Ataxia |
OMIM:256000 |
| Hereditary Methemoglobinemia |
|
Temporal cortical atrophy, Global brain atrophy, Cerebellar atrophy, Cerebral hypomyelination, Fr... |
ORPHA:621 |
| Huppke-Brendel Syndrome |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:614482 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Myoclonic seizure, Cerebellar atrophy, Generalized non-motor (absence)... |
OMIM:617810 |
| Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development |
|
Small for gestational age, Seizure, Speech apraxia, Bilateral tonic-clonic seizure with focal ons... |
OMIM:245570 |
| Epilepsy, Progressive Myoclonic, 12 |
|
Difficulty walking, Myoclonus, Dysmetria, Bilateral tonic-clonic seizure, Ataxia |
OMIM:619191 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Lower limb mu... |
OMIM:614487 |
| Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
| Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Failure to thrive, Seizure, Inability to walk, Dys... |
OMIM:617954 |
| Isaacs Syndrome |
|
Weight loss, Muscle weakness, Distal sensory impairment, Fasciculations |
ORPHA:84142 |
| Developmental And Epileptic Encephalopathy 74 |
|
Myoclonic seizure, Typical absence seizure, Infantile spasms, Tonic seizure, Bilateral tonic-clon... |
OMIM:618396 |
| Methionine Adenosyltransferase I/Iii Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:250850 |
| Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Hand paresthesia, Vocal cord paralysis, Hypoesthesia, Segmental peripheral demyelination/remyelin... |
OMIM:162500 |
| Myoclonic-Atonic Epilepsy |
|
Myoclonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Tremor, Ataxia, Eyeli... |
OMIM:616421 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Failure to thrive, Difficulty walking, Inability to walk, Dystonic gait, Lower limb spasticity, G... |
ORPHA:280210 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Spasticity, Spastic paraparesis, Cerebellar atrophy, Generalized myoclonic seizure, Lower limb mu... |
ORPHA:313772 |
| Ceroid Lipofuscinosis, Neuronal, 5 |
|
Cerebral cortical atrophy, Cerebellar atrophy, Increased neuronal autofluorescent lipopigment, Se... |
OMIM:256731 |
| Developmental And Epileptic Encephalopathy 109 |
|
Spasticity, Crouch gait, Myoclonic seizure, Typical absence seizure, Failure to thrive, Gait atax... |
OMIM:620145 |
| Perioral Myoclonia With Absences |
|
Falls, Generalized non-motor (absence) seizure, Focal seizure with eyelid myoclonia, Chin myoclon... |
ORPHA:139426 |
| Developmental And Epileptic Encephalopathy 63 |
|
Cerebral cortical atrophy, Myoclonic seizure, Cerebral palsy, Seizure, Inability to walk, General... |
OMIM:617976 |
| Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia |
|
Spastic paraplegia, Impaired vibratory sensation, Proximal muscle weakness in lower limbs, Cerebe... |
OMIM:620538 |
| Intellectual Developmental Disorder, X-Linked 12 |
|
Spasticity, Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Truncal obesity, ... |
OMIM:300957 |
| Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum |
|
Tongue fasciculations, Optic atrophy, Cerebellar atrophy, Cataplexy, Seizure, Inability to walk, ... |
OMIM:617193 |
| Horizontal Gaze Palsy With Progressive Scoliosis |
|
Short neck, Scoliosis, Kyphosis, Seizure |
ORPHA:2744 |
| Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 2 |
|
CNS hypomyelination |
OMIM:620425 |
| Developmental And Epileptic Encephalopathy 52 |
|
Spasticity, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Limb ataxia, ... |
OMIM:617350 |
| Developmental And Epileptic Encephalopathy 24 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range... |
OMIM:615871 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1A |
|
Hypertrophic nerve changes, Limb muscle weakness, Foot dorsiflexor weakness, Distal sensory impai... |
OMIM:118220 |
| Developmental And Epileptic Encephalopathy 86 |
|
CNS hypomyelination |
OMIM:618910 |
| Developmental And Epileptic Encephalopathy 6B |
|
Myoclonic absence seizure, Myoclonic seizure, Generalized non-motor (absence) seizure, Inability ... |
OMIM:619317 |
| Intellectual Developmental Disorder, X-Linked 111 |
|
Spasticity, Cerebral palsy, Hippocampal atrophy, Seizure, Kyphoscoliosis, Corpus callosum atrophy... |
OMIM:301107 |
| Tay-Sachs Disease |
|
Lower limb muscle weakness, Incoordination, Poor fine motor coordination, Global brain atrophy, I... |
ORPHA:845 |
| Spinocerebellar Ataxia, Autosomal Recessive 22 |
|
Cerebellar atrophy, Dysmetria, Lower limb spasticity, Abnormal pyramidal sign, Ataxia, Truncal at... |
OMIM:616948 |
| Developmental And Epileptic Encephalopathy 67 |
|
Cerebellar atrophy, Generalized non-motor (absence) seizure, Focal hemiclonic seizure, Tonic seiz... |
OMIM:618141 |
| Seizures, Benign Familial Infantile, 5 |
|
Paroxysmal dyskinesia, Focal impaired awareness seizure, Bilateral tonic-clonic seizure |
OMIM:617080 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Bilateral tonic-clonic seizure |
OMIM:618425 |
| Spastic Paraplegia 7, Autosomal Recessive |
|
Lower limb muscle weakness, Impaired vibration sensation in the lower limbs, Degeneration of the ... |
OMIM:607259 |
| Episodic Ataxia, Type 5 |
|
Typical absence seizure, Episodic ataxia, Febrile seizure (within the age range of 3 months to 6 ... |
OMIM:613855 |
| Leukodystrophy, Hypomyelinating, 2 |
|
Optic atrophy, Sensory axonal neuropathy, Cerebral atrophy, Leukodystrophy, Cerebral hypomyelinat... |
OMIM:608804 |
| Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Somatic sensory dysfunction, Peripheral demyelination, Limb muscle weakness, Axonal degeneration/... |
OMIM:620378 |
| Chromosome 15Q11-Q13 Duplication Syndrome |
|
Bilateral tonic-clonic seizure, Truncal ataxia, Unsteady gait, Seizure |
OMIM:608636 |
| Progressive Myoclonic Epilepsy Type 3 |
|
Optic atrophy, Cerebellar atrophy, Limb myoclonus, Cerebral atrophy, Focal myoclonic seizure, Pro... |
ORPHA:263516 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Difficulty walking, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613608 |
| Episodic Ataxia, Type 9 |
|
Seizure, Episodic ataxia, Tonic seizure, Bilateral tonic-clonic seizure, Status epilepticus, Clon... |
OMIM:618924 |
| Microcephaly, Progressive, With Seizures And Cerebral And Cerebellar Atrophy |
|
Cerebellar vermis atrophy, CNS hypomyelination, Cerebral atrophy |
OMIM:615760 |
| Deafness, Congenital, And Adult-Onset Progressive Leukoencephalopathy |
|
Peripheral axonal neuropathy, Leukodystrophy |
OMIM:619196 |
| Congenital Myopathy 23 |
|
Difficulty walking, Neck muscle weakness, Facial diplegia, Limb muscle weakness, Kyphoscoliosis, ... |
OMIM:609285 |
| Spastic Paraplegia 26, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Cerebral cortical atrophy, Tip-toe gait, Lower ... |
OMIM:609195 |
| Salt And Pepper Developmental Regression Syndrome |
|
Optic atrophy, Global brain atrophy, Failure to thrive, Myoclonus, Bilateral tonic-clonic seizure... |
OMIM:609056 |
| Continuous Spikes And Waves During Sleep |
|
Myoclonic absence seizure, Typical absence seizure, Seizure, Speech apraxia, Focal clonic seizure... |
ORPHA:725 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Vocal cord paresis, Impaired pain sensation, Fasciculations, Impaired temperature sensation, Foot... |
OMIM:619574 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Impaired vibratory sensation, Spasticity, Ophthalmoparesis, Cerebellar atrophy, Sensory axonal ne... |
ORPHA:88644 |
| Gerstmann-Straussler Disease |
|
Spasticity, Cerebellar atrophy, Lower limb muscle weakness, Limb ataxia, Myoclonus, Gait ataxia, ... |
OMIM:137440 |
| Leukodystrophy, Hypomyelinating, 15 |
|
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy |
OMIM:617951 |
| Microcephaly 10, Primary, Autosomal Recessive |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Gliosis, Hypertonia, Small for gestational age |
OMIM:615095 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1B |
|
Hypertrophic nerve changes, Peripheral demyelination, Limb muscle weakness, Foot dorsiflexor weak... |
OMIM:118200 |
| X-Linked Intellectual Disability-Short Stature-Overweight Syndrome |
|
Seizure, Tremor, Hyperkinetic movements, Gait disturbance, Gliosis, Bilateral tonic-clonic seizur... |
ORPHA:457240 |
| Riboflavin Transporter Deficiency |
|
Cerebral cortical atrophy, Seizure, Abnormal cranial nerve morphology, Myoclonus, Tremor, Limb mu... |
ORPHA:97229 |
| Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
External ophthalmoplegia, Failure to thrive, Seizure, Gait ataxia, Cachexia, Weight loss, Status ... |
OMIM:612075 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Small for gestational age, Cerebral atrophy, Seizure, Inability to walk, Infantile spasms, Gliosi... |
ORPHA:79243 |
| Infantile Cerebellar-Retinal Degeneration |
|
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Decreased body w... |
OMIM:614559 |
| Combined Oxidative Phosphorylation Deficiency 29 |
|
Optic atrophy, Global brain atrophy, Cerebellar atrophy, Axonal degeneration, Delayed CNS myelina... |
OMIM:616811 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1 |
|
Ataxia, Impaired vibratory sensation, Cerebellar atrophy, Cerebral atrophy, Seizure, Distal senso... |
OMIM:607250 |
| Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration |
|
Spastic paraplegia, Optic atrophy, External ophthalmoplegia, Cerebellar atrophy, Seizure, Difficu... |
OMIM:612319 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Diffuse cerebellar atrophy, Global brain atrophy, Neurodegeneration, Axonal degeneration, Myoclon... |
ORPHA:478029 |
| Parkinson Disease 1, Autosomal Dominant |
|
Shuffling gait, Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Loss of ambulation, Pa... |
OMIM:168601 |
| Neurodevelopmental Disorder With Involuntary Movements |
|
Involuntary movements, Spasticity, Cerebellar atrophy, Cerebral atrophy, Chorea, Infantile spasms... |
OMIM:617493 |
| Hereditary Neuropathy With Liability To Pressure Palsies |
|
Paresthesia, Scoliosis, Vocal cord paralysis |
ORPHA:640 |
| Developmental And Epileptic Encephalopathy 43 |
|
Ataxia, Myoclonic seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizure, Atyp... |
OMIM:617113 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Cerebellar atrophy, Seizure, Ataxia, Unsteady gait, Scoliosis, Kyphosis |
OMIM:300861 |
| Developmental And Epileptic Encephalopathy 12 |
|
Spasticity, Epileptic spasm, Tonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure |
OMIM:613722 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy |
OMIM:607694 |
| Developmental And Epileptic Encephalopathy 93 |
|
Optic atrophy, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:618012 |
| Leukodystrophy, Hypomyelinating, 22 |
|
Optic disc pallor, CNS hypomyelination |
OMIM:619328 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Neurodegeneration, Proximal muscle weakne... |
OMIM:616239 |
| Developmental And Epileptic Encephalopathy 42 |
|
Convulsive status epilepticus, Myoclonic seizure, Tremor, Tonic seizure, Hypertonia, Ataxia, Foca... |
OMIM:617106 |
| Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Spasticity, Seizure, Inability to walk, Bilateral tonic-clonic seizure, Ataxia, Unsteady gait |
OMIM:620317 |
| Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Cerebral atrophy, Bradykinesia, Postural tremor, Limb dysmetria, Action tremo... |
ORPHA:98762 |
| Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Spastic paraplegia, Optic atrophy, Sensory axonal neuropathy, Inability to walk, Motor axonal neu... |
OMIM:609541 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic seizure, Cerebellar atrophy, Seizure, Abnormal astrocyte morphology, Gliosi... |
ORPHA:168486 |
| Familial Acute Necrotizing Encephalopathy |
|
Spasticity, Seizure, Rigidity, Generalized muscle weakness, Gait disturbance, Gliosis, Hypertonia... |
ORPHA:88619 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Spasticity, Small for gestational age, Cerebral palsy, Cerebral atrophy, Seizure, Febrile seizure... |
OMIM:619847 |
| Developmental And Epileptic Encephalopathy 71 |
|
Gliosis, Seizure |
OMIM:618328 |
| Guanidinoacetate Methyltransferase Deficiency |
|
Focal impaired awareness seizure, Atonic seizure, Seizure, Chorea, Abnormality of extrapyramidal ... |
ORPHA:382 |
| Epilepsy, Early-Onset, 3, With Or Without Developmental Delay |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:620465 |
| Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Difficulty walking, Proximal muscle weakness, Opisthotonus, Parkin... |
ORPHA:300605 |
| Alternating Hemiplegia Of Childhood 1 |
|
Bilateral tonic-clonic seizure, Episodic quadriplegia, Choreoathetosis, Episodic hemiplegia |
OMIM:104290 |
| Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Tongue fasciculations, Kyphosis, Failure to thrive, Ataxia |
OMIM:620007 |
| Isolated Succinate-Coq Reductase Deficiency |
|
External ophthalmoplegia, Spasticity, Spastic paraparesis, Focal myoclonic seizure, Seizure, Gene... |
ORPHA:3208 |
| Congenital Muscular Dystrophy Due To Lmna Mutation |
|
Axial muscle weakness, Cachexia, Gait disturbance, Hyperlordosis, Poor head control, Spinal rigidity |
ORPHA:157973 |
| Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Spasticity, Impaired pain sensation, Cerebral atrophy, Seizure, Inability to walk, Chorea, Gait a... |
ORPHA:500180 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Cerebral atrophy, Seizure, Difficulty walking, Inability ... |
OMIM:611890 |
| Hypomyelination With Brainstem And Spinal Cord Involvement And Leg Spasticity |
|
Optic disc pallor, CNS hypomyelination |
OMIM:615281 |
| Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Muscle weakness, Axonal degeneration |
OMIM:162100 |
| Autosomal Dominant Spastic Paraplegia Type 6 |
|
Spastic paraplegia, Impaired vibratory sensation, Postural tremor, Babinski sign, Gait disturbanc... |
ORPHA:100988 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy, Leukodystrophy |
OMIM:612438 |
| Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Spasticity, Seizure, Gait disturbance, Truncal obesity, Scoliosis, Kyphosis |
ORPHA:2429 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Failure to thrive in infancy, Myoclonus, Babinski sign, Bilateral tonic-clonic seizure, Ataxia, S... |
OMIM:619065 |
| Landau-Kleffner Syndrome |
|
Non-convulsive status epilepticus without coma, Focal myoclonic seizure, Generalized non-motor (a... |
ORPHA:98818 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Bilateral tonic-clonic seizure, Myoclonus, Seizure, Tremor |
OMIM:615127 |
| Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tip-toe gait, Progressive spastic paraplegia, Kyphoscoli... |
ORPHA:496689 |
| Spinocerebellar Ataxia, Autosomal Recessive 26 |
|
Cerebellar atrophy, Limb ataxia, Positive Romberg sign, Gait ataxia, Dysmetria, Oculomotor apraxi... |
OMIM:617633 |
| Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity |
|
Spastic paraplegia, Episodic ataxia, Paresthesia, Abnormal pyramidal sign, Bilateral tonic-clonic... |
ORPHA:53583 |
| Pandas |
|
Depression, Abnormal fear-induced behavior, Oppositional defiant disorder, Obsessive-compulsive t... |
ORPHA:66624 |
| Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Febrile seizure (within the age range of 3 mont... |
OMIM:618917 |
| Ceroid Lipofuscinosis, Neuronal, 3 |
|
Optic atrophy, Cerebral atrophy, Seizure, Myoclonus, Abnormality of extrapyramidal motor function... |
OMIM:204200 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... |
OMIM:615157 |
| Dystonia 22, Juvenile-Onset |
|
Cerebellar atrophy, Intention tremor, Dysmetria, Lower limb spasticity, Torticollis, Bilateral to... |
OMIM:620453 |
| Developmental And Epileptic Encephalopathy 75 |
|
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Frontal cortical atrophy, Optic di... |
OMIM:618437 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 3 |
|
Seizure, Gliosis, Tetraplegia, Hypertonia, Spastic tetraplegia |
OMIM:608033 |
| Developmental And Epileptic Encephalopathy 9 |
|
Convulsive status epilepticus, Generalized non-motor (absence) seizure, Focal-onset seizure, Foca... |
OMIM:300088 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Atonic seizure, Seizure, Febrile seizure (within the age range of 3 months to 6 years), Myoclonus... |
OMIM:612736 |
| Giant Axonal Neuropathy |
|
Facial palsy, CNS hypomyelination, Diffuse axonal swelling |
ORPHA:643 |
| Myopathy, Centronuclear, 2 |
|
Proximal muscle weakness, Axial muscle weakness, Ophthalmoplegia, Hyperlordosis, Respiratory insu... |
OMIM:255200 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Tongue fasciculations, External ophthalmoplegia, Neck muscle weakness, Gait imbalance, Ankle clon... |
OMIM:211530 |
| Leukodystrophy And Acquired Microcephaly With Or Without Dystonia |
|
Leukodystrophy |
OMIM:616763 |
| Gm1-Gangliosidosis, Type Iii |
|
Platyspondyly, Seizure, Myoclonus, Diffuse cerebral atrophy, Ataxia, Anterior beaking of lumbar v... |
OMIM:230650 |
| Epilepsy, Myoclonic Juvenile |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Morning myoclonic jerks, Bilateral to... |
OMIM:254770 |
| Spastic Paraplegia 53, Autosomal Recessive |
|
Spastic paraplegia, Impaired vibratory sensation, Upper limb hypertonia, Gait disturbance, Clonus... |
OMIM:614898 |
| Autosomal Recessive Spastic Paraplegia Type 53 |
|
Impaired vibratory sensation, Failure to thrive, Upper limb hypertonia, Clonus, Kyphosis, Impaire... |
ORPHA:319199 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Spasticity, Pseudobulbar paralysis, Babinski sign, Corpus callosum atrophy, Gliosis, Ataxia, Symm... |
OMIM:169500 |
| Atypical Rett Syndrome |
|
Spasticity, Involuntary movements, Pill-rolling tremor, Limb myoclonus, Impaired pain sensation, ... |
ORPHA:3095 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Failure to thrive in infancy, Cach... |
ORPHA:702 |
| Charcot-Marie-Tooth Disease Type 4D |
|
Distal upper limb muscle weakness, Somatic sensory dysfunction, Inability to walk, Postural tremo... |
ORPHA:99950 |
| Developmental And Epileptic Encephalopathy 27 |
|
Spasticity, Myoclonic seizure, Seizure, Epileptic spasm, Chorea, Infantile spasms, Myoclonus, Bil... |
OMIM:616139 |
| Developmental And Epileptic Encephalopathy 91 |
|
Spasticity, Myoclonic seizure, Cerebral atrophy, Seizure, Epileptic spasm, Tonic seizure, Bilater... |
OMIM:617711 |
| Gm2-Gangliosidosis, Ab Variant |
|
Myoclonic seizure, Cerebral atrophy, Seizure, Neurodegeneration, Chorea, Paralysis, Abnormal pyra... |
OMIM:272750 |
| Neurodevelopmental Disorder With Language Delay And Seizures |
|
Diffuse cerebral atrophy, CNS hypomyelination |
OMIM:619908 |
| Folinic Acid-Responsive Seizures |
|
Optic atrophy, Frontotemporal cerebral atrophy, Cerebellar atrophy, Cerebral hypomyelination, Del... |
ORPHA:79097 |
| Masa Syndrome |
|
Spastic paraplegia, Shuffling gait, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis |
OMIM:303350 |
| Lethal Congenital Contracture Syndrome 7 |
|
Paralysis, Cerebellar atrophy, Facial diplegia, Cerebral atrophy |
OMIM:616286 |
| Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Optic atrophy, Cerebellar atrophy, Kyphosis, Failure to thrive, Bilateral tonic-clonic seizure, S... |
OMIM:618237 |
| Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements |
|
Myoclonic seizure, Cerebral atrophy, Seizure, Inability to walk, Epileptic spasm, Myoclonus, Hype... |
OMIM:618497 |
| Developmental And Epileptic Encephalopathy 112 |
|
Focal aware motor seizure, Myoclonic seizure, Cerebral atrophy, Generalized non-motor (absence) s... |
OMIM:620537 |
| Acute Peripheral Arterial Occlusion |
|
Paralysis, Paresthesia, Limb muscle weakness, Impaired distal tactile sensation |
ORPHA:90064 |
| Neuronal Intranuclear Inclusion Disease |
|
Optic atrophy, Abnormal form of the vertebral bodies, Seizure, Ophthalmoplegia, Hypertonia, Ataxi... |
ORPHA:2289 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Spastic paraplegia, Cerebral atrophy, Gait ataxia, Dysmetria, Short neck, Bilateral tonic-clonic ... |
OMIM:615031 |
| Leukodystrophy, Hypomyelinating, 5 |
|
CNS hypomyelination, Onion bulb formation, Leukodystrophy |
OMIM:610532 |
| Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Vocal cord paresis, Optic atrophy, Lumbar hyperlordosis, Positive Romberg sign, Axonal degenerati... |
OMIM:601152 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy, Cerebellar vermis atrophy... |
OMIM:614381 |
| Developmental And Epileptic Encephalopathy 78 |
|
CNS hypomyelination |
OMIM:618557 |
| Lennox-Gastaut Syndrome |
|
Falls, Myoclonus, Focal-onset seizure, Generalized tonic seizure, Bilateral tonic-clonic seizure,... |
ORPHA:2382 |
| Developmental And Epileptic Encephalopathy 41 |
|
Spasticity, Myoclonic seizure, Cerebral atrophy, Tetraparesis, Inability to walk, Epileptic spasm... |
OMIM:617105 |
| Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy |
|
Spasticity, Somatic sensory dysfunction, Pseudobulbar paralysis, Hemiparesis, Kyphoscoliosis, Rig... |
ORPHA:199354 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Cerebellar atrophy, Myoclonus, Gait ataxia, Dysmetria, Distal sensory impairment, ... |
OMIM:616505 |
| Primary Non-Essential Cutis Verticis Gyrata |
|
Scoliosis, Gliosis, Seizure |
ORPHA:357225 |
| Amyotrophic Lateral Sclerosis |
|
Spasticity, Upper limb muscle weakness, Amyotrophic lateral sclerosis, Fasciculations, Neurodegen... |
ORPHA:803 |
| Baralle-Macken Syndrome |
|
Spasticity, Global brain atrophy, Inability to walk, Obesity, Focal-onset seizure, Kyphosis |
OMIM:619255 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2K |
|
Distal sensory impairment, Proximal muscle weakness, Decreased number of peripheral myelinated ne... |
OMIM:607831 |
| Glioblastoma |
|
Paralysis, Muscle weakness, Seizure, Glioblastoma multiforme |
ORPHA:360 |
| Huntington Disease-Like 2 |
|
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Weight loss, Bradykinesia |
OMIM:606438 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Small for gestational age, Febrile seizure (within the age range of 3 months to 6 years), Epilept... |
ORPHA:289266 |
| Machado-Joseph Disease Type 3 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... |
ORPHA:276244 |
| Charcot-Marie-Tooth Disease, Type 4B2 |
|
Difficulty walking, Foot dorsiflexor weakness, Distal sensory impairment, Kyphoscoliosis, Decreas... |
OMIM:604563 |
| Kohlschutter-Tonz Syndrome |
|
Spasticity, Myoclonic seizure, Seizure, Cerebral atrophy, Bilateral tonic-clonic seizure, Ataxia,... |
OMIM:226750 |
| Intellectual Developmental Disorder With Severe Speech And Ambulation Defects |
|
Broad-based gait, Global brain atrophy, Inability to walk, Infantile spasms, Bilateral tonic-clon... |
OMIM:618470 |
| Myoclonic Epilepsy Of Unverricht And Lundborg |
|
Bilateral tonic-clonic seizure, Myoclonus, Generalized non-motor (absence) seizure, Ataxia |
OMIM:254800 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Ataxia, Optic atrophy, Epilepsia partialis continua, Ophthalmoparesis, Cerebellar atrophy, Diffic... |
OMIM:620451 |
| Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Decreased body weight, Small for gestational age, Kyphosis, Waddling gait |
OMIM:618392 |
| X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Small for gestational age, Kyphosis, Seizure |
ORPHA:85288 |
| Autosomal Recessive Spastic Paraplegia Type 35 |
|
Difficulty walking, Peripheral demyelination, Neck muscle weakness, Ophthalmoplegia, Spastic tetr... |
ORPHA:171629 |
| Developmental And Epileptic Encephalopathy 47 |
|
Cerebellar atrophy, Inability to walk, Limb ataxia, Focal-onset seizure, Tonic seizure, Gait dist... |
OMIM:617166 |
| Developmental And Epileptic Encephalopathy 54 |
|
Seizure, Myoclonus, Status epilepticus without prominent motor symptoms, Tonic seizure, Bilateral... |
OMIM:617391 |
| Progressive Supranuclear Palsy |
|
Blepharospasm, Cerebral cortical atrophy, Falls, Tremor, Rigidity, Supranuclear ophthalmoplegia, ... |
ORPHA:683 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 15 |
|
Generalized non-motor (absence) seizure, Seizure, Myoclonus, Bilateral tonic-clonic seizure, Eyel... |
OMIM:618357 |
| Pelizaeus-Merzbacher Disease |
|
Optic atrophy, Global brain atrophy, CNS hypomyelination, Sudanophilic leukodystrophy, Cerebellar... |
OMIM:312080 |
| Alpers-Huttenlocher Syndrome |
|
Spasticity, Spastic paraparesis, Myoclonus, Focal-onset seizure, Paraparesis, Bilateral tonic-clo... |
ORPHA:726 |
| Charcot-Marie-Tooth Disease, Type 4K |
|
Difficulty walking, Peripheral demyelination, Kyphoscoliosis, Ataxia, Axonal loss |
OMIM:616684 |
| Oxoglutarate Dehydrogenase Deficiency |
|
Falls, Gait ataxia, Dysmetria, Rigidity, Bilateral tonic-clonic seizure, Unsteady gait |
OMIM:203740 |
| Leukodystrophy, Hypomyelinating, 10 |
|
Cerebral atrophy, Cerebral cortical atrophy, CNS hypomyelination, Leukodystrophy |
OMIM:616420 |
| Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
CNS hypomyelination, Cerebellar atrophy, Cerebral atrophy, Delayed CNS myelination, Optic disc pa... |
OMIM:619260 |
| Intellectual Developmental Disorder, Autosomal Dominant 69 |
|
Intention tremor, Bilateral tonic-clonic seizure |
OMIM:617863 |
| Neurodevelopmental Disorder With Spasticity, Cataracts, And Cerebellar Hypoplasia |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:619286 |
| Foxg1 Syndrome |
|
Spasticity, Difficulty walking, Inability to walk, Infantile spasms, Myoclonus, Focal-onset seizu... |
ORPHA:561854 |
| Cerebrooculofacioskeletal Syndrome 1 |
|
Small for gestational age, Cerebellar atrophy, Failure to thrive, Seizure, Neurodegeneration, Kyp... |
OMIM:214150 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Myoclonic absence seizure, Tremor, Rigidity, Bilateral tonic-clonic seizure, Ataxia, Bradykinesia... |
OMIM:617836 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Tip-toe gait, Frequent falls, Difficulty walking, Shoulder girdle muscle weak... |
OMIM:606612 |
| Charcot-Marie-Tooth Disease, Type 4D |
|
Distal sensory impairment, Kyphoscoliosis, Proximal muscle weakness, Gait disturbance, Impaired d... |
OMIM:601455 |
| Hypokalemic Periodic Paralysis |
|
Periodic hypokalemic paresis, Episodic flaccid weakness, Respiratory paralysis, Paralysis, Late-o... |
ORPHA:681 |
| Recessive Mitochondrial Ataxia Syndrome |
|
Impaired vibratory sensation, Sensory axonal neuropathy, Seizure, Limb dysmetria, Positive Romber... |
ORPHA:94125 |
| Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Cerebral cortical atrophy, Chorea, Paresthesia, Intention tremor, Dysmetria, Peripheral hypomyeli... |
ORPHA:48431 |
| Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp |
|
Hand tremor, Myoclonus, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal mo... |
OMIM:608105 |
| Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
| Bethlem Myopathy 2 |
|
Scoliosis, Kyphosis, Muscle weakness, Proximal muscle weakness |
OMIM:616471 |
| Spasticity, Childhood-Onset, With Hyperglycinemia |
|
Optic atrophy, Leukodystrophy |
OMIM:616859 |
| Developmental And Epileptic Encephalopathy 99 |
|
Frontotemporal cerebral atrophy, Cerebellar atrophy, Generalized non-motor (absence) seizure, Epi... |
OMIM:619606 |
| Allan-Herndon-Dudley Syndrome |
|
Spasticity, Spastic tetraplegia, Small for gestational age, Decreased body mass index, Seizure, F... |
ORPHA:59 |
| Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Seizure, Postural tremor, Akinesia, Freezing of gait, Rigidity, Clumsiness, Parki... |
OMIM:619911 |
| Severe Canavan Disease |
|
Optic atrophy, Spasticity, Seizure, Inability to walk, Babinski sign, Bilateral tonic-clonic seiz... |
ORPHA:314911 |
| De Sanctis-Cacchione Syndrome |
|
Optic atrophy, Spasticity, Global brain atrophy, Cerebral atrophy, Axonal degeneration, Babinski ... |
OMIM:278800 |
| Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
| Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616158 |
| Spinocerebellar Ataxia 29 |
|
Truncal titubation, Diffuse cerebellar atrophy, Broad-based gait, Focal impaired awareness seizur... |
OMIM:117360 |
| Brown-Vialetto-Van Laere Syndrome 2 |
|
Tongue fasciculations, Optic atrophy, Neck muscle weakness, Limb muscle weakness, Kyphoscoliosis,... |
OMIM:614707 |
| Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Spasticity, Tip-toe gait, Seizure, Inability to walk, Opisthotonus, Gait disturbance, Weight loss... |
ORPHA:216866 |
| Clcn4-Related X-Linked Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Upper limb spasticity, Generalized non-motor (absence) seizure, Seizur... |
ORPHA:485350 |
| Benign Familial Neonatal-Infantile Seizures |
|
Neonatal seizure, Episodic ataxia, Focal clonic seizure, Tonic seizure, Bilateral tonic-clonic se... |
ORPHA:140927 |
| Familial Infantile Myoclonic Epilepsy |
|
Blepharospasm, Cerebellar atrophy, Limb myoclonus, Seizure, Focal-onset seizure, Clumsiness, Bila... |
ORPHA:352582 |
| Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Difficulty walking, Chorea, Proximal muscle weakness, Hyperlordosis, Bilateral tonic-clonic seizu... |
ORPHA:369840 |
| Myoclonic Epilepsy Of Infancy |
|
Poor motor coordination, Poor hand-eye coordination, Generalized non-motor (absence) seizure, Feb... |
ORPHA:86909 |
| Cerebral Cavernous Malformations 3 |
|
Paralysis, Seizure |
OMIM:603285 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2 |
|
Cerebral atrophy, Seizure, Neurodegeneration, Chorea, Infantile spasms, Gait ataxia, Myoclonus, O... |
OMIM:618321 |
| Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Tip-toe gait, Frequent falls, Difficulty walking, Shoulder girdle muscle weakness, Proximal muscl... |
OMIM:607155 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 8 |
|
Generalized non-motor (absence) seizure, Seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:612899 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, CNS hypomyelination, Cerebral cortical atrophy, Leukodystrophy |
ORPHA:447896 |
| Developmental And Epileptic Encephalopathy 4 |
|
Cerebral hypomyelination, Delayed CNS myelination, Cerebral atrophy |
OMIM:612164 |
| Diabetes Insipidus, Neurohypophyseal |
|
Gliosis |
OMIM:125700 |
| Parastremmatic Dwarfism |
|
Short neck, Scoliosis, Kyphosis |
OMIM:168400 |
| Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities |
|
Delayed CNS myelination, CNS hypomyelination |
OMIM:616577 |
| Cerebrotendinous Xanthomatosis |
|
Spasticity, Spastic paraparesis, Resting tremor, Parkinsonism, Paraparesis, Abnormal pyramidal si... |
ORPHA:909 |
| Jaberi-Elahi Syndrome |
|
Optic atrophy, Broad-based gait, Failure to thrive, Muscle weakness, Inability to walk, Cerebella... |
OMIM:617988 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 7 |
|
Myoclonus, Bilateral tonic-clonic seizure |
OMIM:604827 |
| Developmental And Epileptic Encephalopathy 13 |
|
Generalized non-motor (absence) seizure, Cerebral atrophy, Febrile seizure (within the age range ... |
OMIM:614558 |
| Combined Saposin Deficiency |
|
Optic atrophy, CNS demyelination, Neuronal loss in central nervous system |
OMIM:611721 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
External ophthalmoplegia, Broad-based gait, Positive Romberg sign, Generalized muscle weakness, P... |
OMIM:607459 |
| Intellectual Developmental Disorder, Autosomal Dominant 5 |
|
Myoclonic absence seizure, Seizure, Bilateral tonic-clonic seizure, Torticollis, Brain atrophy |
OMIM:612621 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Gliosis |
OMIM:615119 |
| Pulmonary Blastoma |
|
Weight loss |
ORPHA:64741 |
| Brachyolmia Type 1, Toledo Type |
|
Abnormal odontoid process morphology, Lumbar hyperlordosis, Squared-off platyspondyly, Interverte... |
OMIM:271630 |
| Marinesco-Sjogren Syndrome |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Limb ataxia, Gait ataxia, Progressive muscle w... |
OMIM:248800 |
| Combined Oxidative Phosphorylation Deficiency 14 |
|
Cerebral cortical atrophy, Myoclonic seizure, Cerebellar atrophy, Cerebral atrophy, Seizure, Myoc... |
OMIM:614946 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Spasticity, Cerebellar atrophy, Seizure, Difficulty walking, Gait ataxia, Dysmetri... |
ORPHA:529665 |
| Developmental And Epileptic Encephalopathy 103 |
|
Myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Generalized non-motor (absen... |
OMIM:619913 |
| Polymicrogyria, Bilateral Perisylvian, X-Linked |
|
Atypical absence seizure, Bilateral tonic-clonic seizure, Pseudobulbar paralysis |
OMIM:300388 |
| Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Epilepsia partialis continua, Cerebellar atrophy, Focal myoclonic seizure, Cerebral atrophy, Tetr... |
OMIM:203700 |
| Lissencephaly 8 |
|
Optic atrophy, Cerebral hypomyelination |
OMIM:617255 |
| Pontocerebellar Hypoplasia, Type 2A |
|
Optic atrophy, Cerebral cortical atrophy, Seizure, Chorea, Opisthotonus, Gliosis, Extrapyramidal ... |
OMIM:277470 |
| Spastic Paraplegia 39, Autosomal Recessive |
|
Cerebellar atrophy, Progressive spastic paraplegia, Distal lower limb muscle weakness, Babinski s... |
OMIM:612020 |
| Adrenomyeloneuropathy |
|
Spasticity, Progressive spastic paraparesis, Dysesthesia, Distal sensory impairment, Axonal degen... |
ORPHA:139399 |
| Flynn-Aird Syndrome |
|
Cerebral cortical atrophy, Impaired pain sensation, Seizure, Cachexia, Ataxia, Scoliosis, Kyphosis |
ORPHA:2047 |
| Autosomal Recessive Spastic Paraplegia Type 44 |
|
CNS hypomyelination |
ORPHA:320401 |
| Sarcosinemia |
|
Optic atrophy, Tetraparesis, Peroneal muscle weakness, Bilateral tonic-clonic seizure, Ataxia |
ORPHA:3129 |
| Glutamine Deficiency, Congenital |
|
CNS hypomyelination, Brain atrophy |
OMIM:610015 |
| Hereditary Late-Onset Parkinson Disease |
|
Cerebral cortical atrophy, Shuffling gait, Resting tremor, Akinesia, Rigidity, Parkinsonism, Park... |
ORPHA:411602 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... |
ORPHA:99956 |
| Developmental And Epileptic Encephalopathy 94 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:615369 |
| Spinocerebellar Ataxia Type 19/22 |
|
Broad-based gait, Cerebellar atrophy, Difficulty walking, Limb ataxia, Cogwheel rigidity, Ophthal... |
ORPHA:98772 |
| Neurodevelopmental Disorder With Hearing Loss And Spasticity |
|
Spasticity, Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Infantile spasms... |
OMIM:619616 |
| Acromesomelic Dysplasia, Maroteaux Type |
|
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... |
ORPHA:40 |
| 4H Leukodystrophy |
|
Optic atrophy, Cerebral hypomyelination, Cerebellar atrophy |
ORPHA:289494 |
| Microcephaly-Capillary Malformation Syndrome |
|
CNS hypomyelination, Optic atrophy, Delayed myelination, Cerebral atrophy |
OMIM:614261 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 2 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Febrile seizure (within t... |
OMIM:604403 |
| Succinic Semialdehyde Dehydrogenase Deficiency |
|
Cerebellar atrophy, Generalized non-motor (absence) seizure, Seizure, Hyperkinetic movements, Bil... |
OMIM:271980 |
| Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Poor head control, Scoliosis, Kyphosis, Spinal rigidity |
OMIM:618323 |
| Developmental And Epileptic Encephalopathy 26 |
|
Focal impaired awareness seizure, Infantile spasms, Bilateral tonic-clonic seizure, Atonic seizur... |
OMIM:616056 |
| Primary Angiitis Of The Central Nervous System |
|
Seizure, Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia |
ORPHA:140989 |
| Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy |
|
Broad-based gait, Myoclonic seizure, Seizure, Generalized non-motor (absence) seizure, Bilateral ... |
OMIM:619157 |
| Leukodystrophy, Childhood-Onset, Remitting |
|
Leukodystrophy |
OMIM:619864 |
| Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Optic atrophy, Cerebral cortical atrophy, CNS hypomyelination, Cerebellar atrophy, Leukodystrophy |
OMIM:619576 |
| Ataxia-Oculomotor Apraxia Type 4 |
|
Somatic sensory dysfunction, Obesity, Kyphoscoliosis, Distal lower limb muscle weakness, Oculomot... |
ORPHA:459033 |
| Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:620023 |
| Christianson Syndrome |
|
Cerebral cortical atrophy, Cerebellar atrophy, Generalized-onset seizure, Gait ataxia, Ophthalmop... |
ORPHA:85278 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb muscle weakness, Hyperlordosis, Distal muscle weakness, Scoliosis, Kyphosis |
OMIM:600175 |
| Spastic Paraplegia 79B, Autosomal Recessive |
|
Tetraparesis, Neurodegeneration, Loss of ambulation, Ataxia, Spastic paraplegia, Impaired vibrato... |
OMIM:615491 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Vocal cord paralysis, Distal sensory impairment, Peripheral hypomyelination |
OMIM:616287 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Leukodystrophy |
OMIM:614561 |
| Machado-Joseph Disease Type 1 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... |
ORPHA:276238 |
| Machado-Joseph Disease Type 2 |
|
Spasticity, Degeneration of the striatum, Cerebellar atrophy, Abnormality of extrapyramidal motor... |
ORPHA:276241 |
| Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
CNS hypomyelination |
OMIM:614883 |
| Developmental And Epileptic Encephalopathy 29 |
|
CNS hypomyelination, Cerebral atrophy |
OMIM:616339 |
| Lissencephaly 10 |
|
Myoclonic seizure, Focal impaired awareness seizure, Generalized non-motor (absence) seizure, Feb... |
OMIM:618873 |
| Scapuloperoneal Spinal Muscular Atrophy |
|
Broad-based gait, Progressive distal muscle weakness, Distal sensory impairment, Diaphragmatic we... |
OMIM:181405 |
| Rett Syndrome |
|
Cerebral cortical atrophy, Spasticity, Seizure, Gait ataxia, Cachexia, Gait apraxia, Truncal atax... |
OMIM:312750 |
| Spinocerebellar Ataxia Type 17 |
|
Blepharospasm, Spasticity, Involuntary movements, Cerebellar atrophy, Chorea, Rigidity, Parkinson... |
ORPHA:98759 |
| Unilateral Hemispheric Polymicrogyria |
|
Generalized myoclonic seizure, Infantile spasms, Hemiparesis, Focal atonic seizure, Bilateral ton... |
ORPHA:101071 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Ophthalmoparesis, Involuntary movements, Dysdiadochokinesis, Seizure, Limb ataxia,... |
ORPHA:101 |
| Adenylosuccinase Deficiency |
|
Cerebral hypomyelination, CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:103050 |
| Anemia, Sideroblastic, And Spinocerebellar Ataxia |
|
Cerebellar atrophy, Seizure, Positive Romberg sign, Myoclonus, Dysmetria, Intention tremor, Babin... |
OMIM:301310 |
| Horner Syndrome, Congenital |
|
Paralysis |
OMIM:143000 |
| Spastic Paraplegia 44, Autosomal Recessive |
|
CNS hypomyelination |
OMIM:613206 |
| Pick Disease Of Brain |
|
Gliosis, Neuronal loss in central nervous system |
OMIM:172700 |
| Spinocerebellar Ataxia 23 |
|
CNS demyelination, Neuronal loss in central nervous system, Cerebellar atrophy |
OMIM:610245 |
| Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome |
|
Generalized non-motor (absence) seizure, Generalized-onset seizure, Chorea, Bilateral tonic-cloni... |
ORPHA:79137 |
| Immunodeficiency 26 With Or Without Neurologic Abnormalities |
|
CNS hypomyelination, Brain atrophy |
OMIM:615966 |
| Osteomesopyknosis |
|
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis |
ORPHA:2777 |
| Supranuclear Palsy, Progressive, 1 |
|
Falls, Cerebral atrophy, Akinesia, Gait imbalance, Retrocollis, Astrocytosis, Tremor, Rigidity, P... |
OMIM:601104 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Cerebral hypomyelination, Delayed myelination, Cerebellar atrophy |
OMIM:616683 |
| Multiple Mitochondrial Dysfunctions Syndrome 5 |
|
Delayed myelination, Leukodystrophy |
OMIM:617613 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Ophthalmoparesis, Falls, Bradykinesia, Extrapyramidal muscular rigidity, Speech ap... |
ORPHA:99750 |
| Alg2-Cdg |
|
Cerebral hypomyelination |
ORPHA:79326 |
| Typical Nemaline Myopathy |
|
Facial diplegia, Foot dorsiflexor weakness, Fatigable weakness of respiratory muscles, Axial musc... |
ORPHA:171436 |
| Ddost-Cdg |
|
CNS hypomyelination |
ORPHA:300536 |
| Postencephalitic Parkinsonism |
|
Involuntary movements, Resting tremor, Seizure, Akinesia, Paresthesia, Cogwheel rigidity, Rigidit... |
ORPHA:97349 |
| Spinocerebellar Ataxia Type 3 |
|
Abnormality of extrapyramidal motor function, Progressive external ophthalmoplegia, Clumsiness, A... |
ORPHA:98757 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination, Facial diplegia, Cerebellar atrophy |
OMIM:618186 |
| Hemifacial Atrophy, Progressive |
|
Kyphosis, Seizure, Ataxia |
OMIM:141300 |
| Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Kyphosis, Cerebral atrophy |
OMIM:618453 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Action tremor, Optic disc pallor, Cerebral atrophy, Generalized non-motor (absence) seizure, Inab... |
ORPHA:404454 |
| Orofaciodigital Syndrome Xvii |
|
CNS hypomyelination |
OMIM:617926 |
| Juvenile Absence Epilepsy |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:1941 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Cerebellar atrophy, Inability to walk, Tremor, Babinski sign, Hyperlordosis, Torti... |
OMIM:128100 |
| Brachyolmia Type 1, Hobaek Type |
|
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... |
OMIM:271530 |
| Bilateral Generalized Polymicrogyria |
|
Spasticity, Generalized myoclonic seizure, Typical absence seizure, Generalized-onset seizure, To... |
ORPHA:208447 |
| Ataxia-Oculomotor Apraxia 3 |
|
Cerebellar atrophy, Distal sensory impairment, Dysmetria, Peripheral axonal neuropathy, Oculomoto... |
OMIM:615217 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 9 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:616172 |
| Mannosidosis, Alpha B, Lysosomal |
|
Thoracolumbar kyphosis, Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Increased vert... |
OMIM:248500 |
| Neurodevelopmental Disorder With Epilepsy And Hemochromatosis |
|
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Seizure, Postural tremor, Myoclonus, B... |
OMIM:301072 |
| Sialidosis Type 2 |
|
Seizure, Tremor, Ataxia, Kyphosis, Muscle weakness |
ORPHA:87876 |
| Female Restricted Epilepsy With Intellectual Disability |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
ORPHA:101039 |
| Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Obesity, Scoliosis, Kyphosis, Seizure |
ORPHA:276630 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Spasticity, Global brain atrophy, Cerebral atrophy, Seizure, Inability to walk, Failure to thrive... |
OMIM:616801 |
| Ullrich Congenital Muscular Dystrophy |
|
Frequent falls, Generalized muscle weakness, Diaphragmatic weakness, Short neck, Torticollis, Sco... |
ORPHA:75840 |
| X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome |
|
Broad-based gait, Shuffling gait, Resting tremor, Seizure, Obesity, Tremor, Kyphoscoliosis, Parki... |
ORPHA:3077 |
| Progressive Multifocal Leukoencephalopathy |
|
Somatic sensory dysfunction, Seizure, Oculomotor nerve palsy, Abnormal astrocyte morphology, Pare... |
ORPHA:217260 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Focal autonomic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal ons... |
ORPHA:101046 |
| Leigh Syndrome |
|
Spasticity, Ophthalmoplegia, Ataxia, Athetosis, Choreoathetosis, Involuntary movements, Chorea, I... |
ORPHA:506 |
| Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Severe demyelination of the white matter, Global brain atrophy, CNS hypomyelination |
ORPHA:481152 |
| Angioedema, Hereditary, 1 |
|
Hypoesthesia, Peripheral axonal neuropathy, Muscle weakness, Axonal degeneration |
OMIM:106100 |
| Vocal Cord And Pharyngeal Distal Myopathy |
|
Vocal cord paresis, Amyotrophic lateral sclerosis, Ankle weakness, Difficulty walking, Shoulder g... |
ORPHA:600 |
| Sandhoff Disease, Infantile Form |
|
Cerebral cortical atrophy, CNS hypomyelination |
ORPHA:309155 |
| Developmental And Epileptic Encephalopathy 28 |
|
Optic atrophy, Spasticity, Cerebral atrophy, Generalized non-motor (absence) seizure, Seizure, Fo... |
OMIM:616211 |
| Supranuclear Palsy, Progressive, 2 |
|
Falls, Postural tremor, Gait imbalance, Akinesia, Retrocollis, Rigidity, Parkinsonism, Gliosis, N... |
OMIM:609454 |
| Mantle Cell Lymphoma |
|
Weight loss |
ORPHA:52416 |
| Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Periodic paralysis, Muscle weakness |
OMIM:170400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
|
Scoliosis, Kyphosis, Seizure |
OMIM:300434 |
| Lissencephaly, X-Linked, 2 |
|
Spasticity, Gliosis, Seizure |
OMIM:300215 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Seizure, Diffuse cerebral atrophy, Head titubation, Gliosis, Spastic tetraplegia |
ORPHA:3240 |
| Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:230800 |
| Sialidosis Type 1 |
|
Abnormal form of the vertebral bodies, Seizure, Myoclonus, Tremor, Gait disturbance, Ataxia, Scol... |
ORPHA:812 |
| Multicentric Reticulohistiocytosis |
|
Cachexia, Muscle weakness |
ORPHA:139436 |
| Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Periodic paralysis, Hand tremor, Generalized muscle weakness |
OMIM:609153 |
| Retinal Dystrophy With Leukodystrophy |
|
CNS hypomyelination |
OMIM:618863 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Weight loss, Periodic paralysis, Muscle weakness |
OMIM:188580 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
CNS hypomyelination, Cerebral cortical atrophy, Delayed myelination |
OMIM:614922 |
| Molybdenum Cofactor Deficiency, Type B |
|
Cerebral atrophy, Seizure, Peripheral demyelination, Diffuse cerebral atrophy, Opisthotonus, Glio... |
OMIM:252160 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Tongue fasciculations, Vocal cord paresis, Optic atrophy, Facial paralysis, Impaired pain sensati... |
ORPHA:99949 |
| Aids Wasting Syndrome |
|
Cachexia, Weight loss |
ORPHA:90081 |
| Rars-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Diffuse cerebral atrophy, Cerebral hypomyelination |
ORPHA:438114 |
| Behavioral Variant Of Frontotemporal Dementia |
|
Frontotemporal cerebral atrophy, Fasciculations, Astrocytosis, Abnormality of extrapyramidal moto... |
ORPHA:275864 |
| Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Restrictive partial external ophthalmoplegia, Kyphosis |
OMIM:609384 |
| Autosomal Recessive Spastic Paraplegia Type 9B |
|
Cerebral cortical atrophy, Spasticity, Tip-toe gait, Muscle weakness, Postural tremor, Kyphoscoli... |
ORPHA:447760 |
| Glossopharyngeal Neuralgia |
|
Seizure, Cranial nerve compression, Schwannoma, Abnormal glossopharyngeal nerve morphology, Abnor... |
ORPHA:221098 |
| Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Chemodectoma, Vocal cord paralysis, Glomus jugular tumor, Glomus tympanicum ... |
OMIM:601650 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Kyphosis, Tip-t... |
ORPHA:98863 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Seizure, Cervical spinal canal stenosis, Obesity, Scheuermann-like vertebral changes, Scoliosis, ... |
OMIM:301900 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Parkinsonism, Nocturnal seizures, Bilateral... |
OMIM:619725 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 14 |
|
Seizure, Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 mont... |
OMIM:616685 |
| Parkinson-Dementia Syndrome |
|
Ophthalmoparesis, Tremor, Rigidity, Kyphoscoliosis, Parkinsonism, Abnormal pyramidal sign |
OMIM:260540 |
| Febrile Seizures, Familial, 11 |
|
Febrile seizure (within the age range of 3 months to 6 years), Focal impaired awareness seizure, ... |
OMIM:614418 |
| Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Periodic paralysis |
OMIM:613345 |
| Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
| Idiopathic Achalasia |
|
Weight loss |
ORPHA:930 |
| Developmental And Epileptic Encephalopathy 102 |
|
Generalized myoclonic seizure, Inability to walk, Tonic seizure, Focal emotional seizure with lau... |
OMIM:619881 |
| Fatal Familial Insomnia |
|
Weight loss, Myoclonus, Neuronal loss in central nervous system, Ataxia |
OMIM:600072 |
| Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Optic atrophy, Spastic paraparesis, Generalized myoclonic seizure, Failure to thrive, Generalized... |
ORPHA:395 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 7 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613863 |
| Febrile Seizures, Familial, 4 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:604352 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 17 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:602477 |
| Febrile Seizures, Familial, 1 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:121210 |
| Febrile Seizures, Familial, 5 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609255 |
| Febrile Seizures, Familial, 6 |
|
Generalized tonic seizure, Atonic seizure, Bilateral tonic-clonic seizure, Febrile seizure (withi... |
OMIM:609253 |
| Developmental And Epileptic Encephalopathy 90 |
|
Cerebral atrophy, Focal-onset seizure, Ankle clonus, Babinski sign, Limb hypertonia, Bilateral to... |
OMIM:301058 |
| Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy |
|
Peripheral axonal neuropathy, Progressive muscle weakness, Kyphosis, Distal sensory impairment |
OMIM:151800 |
| Late Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonic seizure, Cerebellar atrophy, Atonic seizure, Cerebral atrophy, Seizure, Ina... |
ORPHA:168491 |
| Leukodystrophy, Hypomyelinating, 24 |
|
Cerebral atrophy, Peripheral axonal neuropathy, Leukodystrophy |
OMIM:619851 |
| Fatty Acid Hydroxylase-Associated Neurodegeneration |
|
Optic atrophy, Falls, Cerebellar atrophy, Progressive spastic paraplegia, Progressive spastic par... |
ORPHA:329308 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ophthalmoparesis, Neck muscle weakness, Fatigable weakness, Proximal muscle weakness, Bulbar pals... |
OMIM:617143 |
| Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
CNS hypomyelination |
OMIM:618622 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Seizure, Inability to walk, Proximal muscle weakness, Fatigable weakness of neck muscles, Gliosis... |
ORPHA:26791 |
| Primary Dystonia, Dyt4 Type |
|
Blepharospasm, Upper limb postural tremor, Involuntary movements, Eunuchoid habitus, Kyphoscolios... |
ORPHA:98805 |
| Isolated Congenital Hypoglossia/Aglossia |
|
Weight loss |
ORPHA:141152 |
| Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphosis, Proximal muscle weakness, Kyphoscoliosis, Gowers sign, Scoliosis, Small for gestational... |
OMIM:618484 |
| Migraine, Familial Hemiplegic, 2 |
|
Cerebellar atrophy, Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apr... |
OMIM:602481 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Kyphosis, Tip-t... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Kyphosis, Tip-t... |
ORPHA:98853 |
| Neurodevelopmental Disorder With Seizures, Hypotonia, And Brain Imaging Abnormalities |
|
CNS hypomyelination, Hippocampal atrophy, Cerebral atrophy, Cerebellar atrophy |
OMIM:618922 |
| Familial Cervical Artery Dissection |
|
Paralysis, Paresthesia, Facial palsy |
ORPHA:36382 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Optic disc pallor, CNS hypomyelination |
OMIM:618527 |
| Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Fatigable weakness, Proximal muscl... |
ORPHA:42 |
| Intellectual Developmental Disorder, Autosomal Dominant 45 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Cerebral palsy, Slender build, Chorea... |
OMIM:617600 |
| Arnold-Chiari Malformation Type I |
|
Abnormality of the eleventh cranial nerve, Fatigable weakness of swallowing muscles, Somatic sens... |
ORPHA:268882 |
| Leukodystrophy, Hypomyelinating, 17 |
|
Cerebral atrophy, Cerebellar atrophy, Leukodystrophy |
OMIM:618006 |
| Sjögren-Larsson Syndrome |
|
Spasticity, Seizure, Abnormal pyramidal sign, Scoliosis, Kyphosis, Spastic diplegia |
ORPHA:816 |
| Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Tip-toe gait, Kyphoscoliosis, Clumsiness, Hypertonia, Poor coordination, Scol... |
ORPHA:37612 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, CNS hypomyelination, Cerebellar atrophy |
OMIM:619580 |
| Perry Syndrome |
|
Parkinsonism, Weight loss, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Cerebral atrophy, Cerebellar atrophy, Leukodystrophy |
OMIM:617916 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Cerebral atrophy, Gliosis, Neuronal loss in central nervous system, Basal gan... |
OMIM:604377 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Delayed CNS myelination, Leukodystrophy |
OMIM:618688 |
| Epilepsy, Familial Temporal Lobe, 2 |
|
Febrile seizure (within the age range of 3 months to 6 years), Febrile status epilepticus, Bilate... |
OMIM:608096 |
| Infantile Krabbe Disease |
|
Hyperesthesia, Optic atrophy, Spasticity, Failure to thrive, Seizure, Shoulder girdle muscle weak... |
ORPHA:206436 |
| Laryngeal Neuroendocrine Tumor |
|
Weight loss, Neuroendocrine neoplasm |
ORPHA:100083 |
| Congenital Myopathy 15 |
|
Vocal cord paralysis, Muscle weakness, Waddling gait |
OMIM:620161 |
| Epilepsy, Idiopathic Generalized, Susceptibility To, 10 |
|
Generalized non-motor (absence) seizure, Febrile seizure (within the age range of 3 months to 6 y... |
OMIM:613060 |
| Hall-Riggs Syndrome |
|
Platyspondyly, Failure to thrive, Seizure, Scoliosis, Kyphosis, Irregular vertebral endplates |
OMIM:234250 |
| Pelizaeus-Merzbacher Disease In Female Carriers |
|
CNS hypomyelination |
ORPHA:280229 |
| Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Falls, Seizure, Difficulty walking, Ankle clonus, Gliosis |
OMIM:618222 |
| Lafora Disease |
|
Spasticity, Generalized myoclonic seizure, Focal impaired awareness seizure, Atonic seizure, Foca... |
ORPHA:501 |
| Autism Spectrum Disorder Due To Auts2 Deficiency |
|
Spasticity, Small for gestational age, Cerebral palsy, Seizure, Hypertonia, Scoliosis, Kyphosis |
ORPHA:352490 |
| Srd5A3-Cdg |
|
Optic atrophy, Cerebellar atrophy, Seizure, Ataxia, Abnormal sacrum morphology, Kyphosis |
ORPHA:324737 |
| Myopathic Ehlers-Danlos Syndrome |
|
Tip-toe gait, Failure to thrive, Kyphoscoliosis, Generalized muscle weakness, Proximal muscle wea... |
ORPHA:536516 |
| Ck Syndrome |
|
Seizure, Slender build, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:300831 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 1 |
|
Bilateral tonic-clonic seizure, Atonic seizure, Generalized non-motor (absence) seizure, Febrile ... |
OMIM:604233 |
| Thymic Carcinoma |
|
Diaphragmatic paralysis, Weight loss, Fatigable weakness |
ORPHA:99868 |
| Adducted Thumbs Syndrome |
|
Myelin-dependent gliosis |
OMIM:201550 |
| Oculopharyngodistal Myopathy 1 |
|
External ophthalmoplegia, Ophthalmoparesis, Muscle weakness, Difficulty walking, Foot dorsiflexor... |
OMIM:164310 |
| Gm1 Gangliosidosis |
|
Platyspondyly, Ataxia, Spasticity, Optic atrophy, Abnormal form of the vertebral bodies, Seizure,... |
ORPHA:354 |
| Combined Oxidative Phosphorylation Deficiency 53 |
|
CNS hypomyelination |
OMIM:619423 |
| Perry Syndrome |
|
Short stepped shuffling gait, Akinesia, Tremor, Rigidity, Parkinsonism, Weight loss, Bradykinesia |
OMIM:168605 |
| Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Hemiplegia, Gait disturbance, Scoliosis, Kyphosis |
ORPHA:2181 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
External ophthalmoplegia, Ophthalmoparesis, Paresthesia, Foot dorsiflexor weakness, Peripheral ax... |
ORPHA:298 |
| Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Hypoplasia of the odontoid process, Supernumerary vertebral ossification centers, Vertebral segme... |
OMIM:609813 |
| Wieacker-Wolff Syndrome |
|
Spasticity, Cerebral atrophy, Seizure, Short neck, Oculomotor apraxia, Apraxia, Hyperlordosis, Fa... |
OMIM:314580 |
| Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Optic atrophy, CNS demyelination, Leukodystrophy |
OMIM:264470 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Vocal cord paresis, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, O... |
OMIM:606071 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Pain insensitivity, Spasticity, Seizure, Slender build, Myoclonus, Babinski sign, Bilateral tonic... |
ORPHA:364028 |
| Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2 |
|
Cerebral cortical atrophy, Caudate atrophy, CNS demyelination |
OMIM:618193 |
| Moynahan Syndrome |
|
Cachexia, Seizure |
ORPHA:2574 |
| Molybdenum Cofactor Deficiency, Type A |
|
Cerebral atrophy, Seizure, Peripheral demyelination, Opisthotonus, Gliosis, Myoclonic spasms, Axo... |
OMIM:252150 |
| Focal Myositis |
|
Weight loss, Muscle weakness |
ORPHA:48918 |
| Cataracts, Spastic Paraparesis, And Speech Delay |
|
Spastic paraparesis, Generalized non-motor (absence) seizure, Complex febrile seizure, Bilateral ... |
OMIM:619338 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
CNS hypomyelination, Delayed myelination |
ORPHA:88618 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Gait disturbance, Kyphosis |
ORPHA:1875 |
| Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Cerebral cortical atrophy, Apraxia, Parkinsonism, Gliosis, Neuronal loss in central nervous system |
OMIM:607485 |
| Kleefstra Syndrome 2 |
|
Scoliosis, Kyphosis, Seizure |
OMIM:617768 |
| Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Sclerotic vertebral body, Platyspondyly, Spasticity, Spastic tetraplegia, Optic atrophy, Seizure,... |
OMIM:618476 |
| Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Optic atrophy, CNS hypomyelination, Leukodystrophy, Cerebellar atrophy |
OMIM:619708 |
| Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Kyphosis, Tip-t... |
ORPHA:98855 |
| Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis, Muscle weakness |
ORPHA:757 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Oculomotor apraxia, Scoliosis, Kyphosis |
ORPHA:3454 |
| Congenital Disorder Of Deglycosylation 1 |
|
Pain insensitivity, Involuntary movements, Myoclonic seizure, Seizure, Chorea, Myoclonus, Action ... |
OMIM:615273 |
| Intestinal Dysmotility Syndrome |
|
Weight loss, Failure to thrive |
OMIM:620045 |
| Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Cerebral hypomyelination |
OMIM:612949 |
| X-Linked Adrenoleukodystrophy |
|
Somatic sensory dysfunction, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsi... |
ORPHA:43 |
| Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Episodic flaccid weakness |
OMIM:170500 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Cachexia, Seizure, Ataxia |
ORPHA:1933 |
| Generalized Epilepsy With Febrile Seizures Plus, Type 4 |
|
Bilateral tonic-clonic seizure, Generalized tonic seizure, Generalized non-motor (absence) seizur... |
OMIM:609800 |
| Epilepsy, Juvenile Myoclonic, Susceptibility To, 10 |
|
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized non-motor (absence) se... |
OMIM:617924 |
| Idiopathic Juvenile Osteoporosis |
|
Vertebral compression fracture, Gait disturbance, Kyphosis |
ORPHA:85193 |
| Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Cerebellar atrophy, Cerebral atrophy, Seizure, Infantile spasms, Scoliosis, Kyphosis |
OMIM:619797 |
| Ullrich Congenital Muscular Dystrophy 1A |
|
Failure to thrive, Slender build, Proximal muscle weakness, Torticollis, Respiratory insufficienc... |
OMIM:254090 |
| Pelger-Huet Anomaly |
|
Failure to thrive, Seizure, Foot dorsiflexor weakness, Bilateral tonic-clonic seizure, Kyphosis, ... |
OMIM:169400 |
| X-Linked Creatine Transporter Deficiency |
|
Seizure, Chorea, Cachexia, Hypertonia, Ataxia, Athetosis |
ORPHA:52503 |
| Hypomelanosis Of Ito |
|
Seizure, Scoliosis, Kyphosis, Cerebral atrophy |
OMIM:300337 |
| Non-Functioning Paraganglioma |
|
Cranial nerve compression, Tremor, Weight loss, Vocal cord paralysis, Paraganglioma of head and n... |
ORPHA:94080 |
| Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome |
|
Cerebral cortical atrophy, Cerebral hypomyelination, Global brain atrophy, Brain atrophy |
ORPHA:457351 |
| Undifferentiated Pleomorphic Sarcoma |
|
Weight loss |
ORPHA:2023 |
| Wilson Disease |
|
Proximal muscle weakness in lower limbs, Failure to thrive, Difficulty walking, Increased body we... |
ORPHA:905 |
| Diencephalic Syndrome |
|
Optic atrophy, Cachexia, Decreased body weight |
ORPHA:1672 |
| Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Spasticity, Cerebellar atrophy, Cerebral atrophy, Inability to walk, Generalized-onset seizure, O... |
OMIM:618443 |
| Poliomyelitis |
|
Muscle flaccidity, Lower limb muscle weakness, Fasciculations, Inability to walk, Upper limb musc... |
ORPHA:2912 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Small for gestational age, Cerebral palsy, Hypertonia, Scoliosis, Kyphosis |
OMIM:615834 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
|
Seizure, Cerebellar vermis atrophy, Gait ataxia, Tremor, Abdominal obesity, Kyphosis |
OMIM:300354 |
| O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Seizure |
OMIM:618512 |
| Neuroblastoma, Susceptibility To, 1 |
|
Failure to thrive, Myoclonus, Ganglioneuroma, Weight loss, Ataxia |
OMIM:256700 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Spasticity, Inability to walk, Brain atrophy, Short neck, Oculomotor apraxia, Distal muscle weakn... |
OMIM:301041 |
| Winchester Syndrome |
|
Kyphosis |
OMIM:277950 |
| Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
| Japanese Encephalitis |
|
Distal upper limb muscle weakness, Pill-rolling tremor, Muscle flaccidity, Cogwheel rigidity, Myo... |
ORPHA:79139 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Cerebellar atrophy, Motor axonal neuropathy, Cerebral h... |
ORPHA:496641 |
| Bilateral Polymicrogyria |
|
Cerebellar atrophy, Seizure, Pseudobulbar paralysis, Generalized-onset seizure, Infantile spasms,... |
ORPHA:268940 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Generalized-onset seizure, Paralysis, Focal-onset seizure, Status epilepticus |
ORPHA:83601 |
| Krabbe Disease |
|
Optic atrophy, Neurodegeneration, Peripheral demyelination, Diffuse cerebral atrophy, CNS demyeli... |
OMIM:245200 |
| Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Cerebral cortical atrophy, Broad-based gait, Generalized myoclonic seizure, Typical absence seizu... |
ORPHA:268261 |
| Spongiform Encephalopathy With Neuropsychiatric Features |
|
Parkinsonism, Gliosis |
OMIM:606688 |
| Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination |
|
Cerebral hypomyelination, Delayed CNS myelination, CNS hypomyelination, Cerebellar atrophy |
OMIM:618367 |
| Leukoencephalopathy, Cystic, Without Megalencephaly |
|
Abnormal CNS myelination |
OMIM:612951 |
| Holocarboxylase Synthetase Deficiency |
|
Weight loss, Seizure, Ataxia |
ORPHA:79242 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Myoclonus, Tremor, Bilateral tonic-clonic seizure, Ataxia |
OMIM:607876 |
| Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Weight loss, Periodic paralysis, Tremor |
OMIM:613239 |
| Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Epileptic spasm, Myoclonus, Vocal ... |
ORPHA:500144 |
| Kanzaki Disease |
|
Cerebral atrophy, Distal sensory impairment, Axonal degeneration, Peripheral axonal neuropathy, D... |
OMIM:609242 |
| Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Scoliosis, Kyphosis, Axial muscle weakness |
ORPHA:178148 |
| Chronic Hiccup |
|
Weight loss |
ORPHA:396 |
| Hyperkalemic Periodic Paralysis |
|
Ophthalmoparesis, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Paresthesia, E... |
ORPHA:682 |
| Congenital Myopathy 22A, Classic |
|
External ophthalmoplegia, Proximal muscle weakness in lower limbs, Gowers sign, Limb muscle weakn... |
OMIM:620351 |
| Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome |
|
Abnormal CNS myelination |
ORPHA:521390 |
| Metachromatic Leukodystrophy Due To Saposin B Deficiency |
|
Peripheral demyelination, CNS demyelination |
OMIM:249900 |
| Kleefstra Syndrome Due To A Point Mutation |
|
Large for gestational age, Failure to thrive, Gliosis, Seizure |
ORPHA:261652 |
| Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Scoliosis, Kyphosis, Seizure |
ORPHA:1858 |
| Leukodystrophy, Hypomyelinating, 3 |
|
Global brain atrophy, Corpus callosum atrophy, Leukodystrophy, Sudanophilic leukodystrophy |
OMIM:260600 |
| Cockayne Syndrome |
|
Spasticity, Difficulty walking, Action tremor, Peripheral axonal neuropathy, Cachexia, Ataxia, Op... |
ORPHA:191 |
| Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome |
|
Optic atrophy, Involuntary movements, Global brain atrophy, Focal impaired awareness seizure, Hyp... |
ORPHA:480864 |
| Alexander Disease |
|
Spasticity, Failure to thrive, Seizure, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clon... |
ORPHA:58 |
| Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia |
|
Cerebral atrophy, Delayed CNS myelination, Cerebellar atrophy, Leukodystrophy |
OMIM:620269 |
| Abetalipoproteinemia |
|
Peripheral demyelination, CNS demyelination |
OMIM:200100 |
| Rhabdoid Tumor |
|
Hemiplegia, Weight loss, Cerebral palsy, Oculomotor nerve palsy |
ORPHA:69077 |
| Marbach-Rustad Progeroid Syndrome |
|
CNS hypomyelination |
OMIM:619322 |
| Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity |
|
Spasticity, Small for gestational age, Seizure, Inability to walk, Decreased body weight, Limb hy... |
OMIM:620371 |
| Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures |
|
Spasticity, Myoclonic seizure, Failure to thrive, Generalized non-motor (absence) seizure, Seizur... |
OMIM:620455 |
| Central Diabetes Insipidus |
|
Weight loss, Failure to thrive, Seizure |
ORPHA:178029 |
| Gaba-Transaminase Deficiency |
|
Leukodystrophy |
OMIM:613163 |
| Porphyria, Acute Intermittent |
|
Seizure, Paresthesia, Respiratory paralysis, Paralysis, Muscle weakness |
OMIM:176000 |
| Progressive Nodular Histiocytosis |
|
Cachexia |
ORPHA:158022 |
| Triosephosphate Isomerase Deficiency |
|
Spasticity, Failure to thrive, Cerebral atrophy, Tremor, Progressive muscle weakness, Respiratory... |
OMIM:615512 |
| Classic Hodgkin Lymphoma |
|
Weight loss, Ataxia |
ORPHA:391 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
CNS hypomyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:615356 |
| Sandhoff Disease |
|
CNS hypomyelination |
OMIM:268800 |
| Mcdonough Syndrome |
|
Cachexia, Scoliosis, Kyphosis |
ORPHA:2471 |
| Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Scoliosis, Kyphosis, Failure to thrive |
OMIM:618234 |
| Alg1-Cdg |
|
Cerebellar atrophy, Seizure, Cerebral atrophy, Scoliosis, Kyphosis |
ORPHA:79327 |
| Insulin Autoimmune Syndrome |
|
Weight loss |
ORPHA:411593 |
| Crisponi Syndrome |
|
Seizure, Scoliosis, Kyphosis, Hypertonia |
ORPHA:1545 |
| Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Paralysis, Limb muscle weakness |
OMIM:612300 |
| Schaaf-Yang Syndrome |
|
Seizure, Inability to walk, Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis |
OMIM:615547 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Cerebral hypomyelination |
ORPHA:280219 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Spinal rigidity, Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Kyphosis... |
OMIM:615084 |
| Galactose Epimerase Deficiency |
|
Weight loss |
ORPHA:79238 |
| Leukodystrophy, Hypomyelinating, 16 |
|
Optic disc pallor, Delayed CNS myelination, Leukodystrophy |
OMIM:617964 |
| Dermatoleukodystrophy |
|
Leukodystrophy |
OMIM:221790 |
| Hyperphosphatasia With Impaired Intellectual Development Syndrome 3 |
|
Myoclonic seizure, Generalized non-motor (absence) seizure, Seizure, Inability to walk, Febrile s... |
OMIM:614207 |
| Autosomal Dominant Congenital Benign Spinal Muscular Atrophy |
|
Cachexia |
ORPHA:1216 |
| Renal Tubular Acidosis, Distal, With Nephrocalcinosis, Short Stature, Impaired Intellectual Development, And Distinctive Facies |
|
Abnormal CNS myelination |
OMIM:611555 |
| Gitelman Syndrome |
|
Failure to thrive, Seizure, Paresthesia, Generalized muscle weakness, Paralysis, Ataxia, Muscle w... |
OMIM:263800 |
| Metatropic Dysplasia |
|
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Long coccyx, ... |
OMIM:156530 |
| Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... |
ORPHA:93314 |
| Peroxisome Biogenesis Disorder 8B |
|
Optic atrophy, Cerebellar atrophy, Leukodystrophy, Cerebellar vermis atrophy, Peripheral demyelin... |
OMIM:614877 |
| Tick-Borne Encephalitis |
|
Tongue fasciculations, Somatic sensory dysfunction, Incoordination, Speech apraxia, Generalized-o... |
ORPHA:297 |
| Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Small for gestational age, Cerebellar atrophy, Atonic seizure, Seizure, Inability to walk, Hyperk... |
OMIM:617799 |
| Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Seizure, Generalized-onset seizure, ... |
OMIM:617527 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Brain atrophy, Leukodystrophy |
OMIM:618225 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Spinal rigidity, Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficie... |
ORPHA:352447 |
| Fetal Akinesia Deformation Sequence 4 |
|
Short neck, Kyphosis |
OMIM:618393 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizure, Gliosis, Ataxia, Mu... |
OMIM:124000 |
| Early Infantile Epileptic Encephalopathy |
|
Spasticity, Cerebellar atrophy, Failure to thrive, Generalized non-motor (absence) seizure, Episo... |
ORPHA:1934 |
| Myoclonic Epilepsy Of Lafora 1 |
|
Generalized myoclonic seizure, Generalized non-motor (absence) seizure, Focal sensory seizure wit... |
OMIM:254780 |
| Thyrotoxic Periodic Paralysis |
|
Ophthalmoparesis, Periodic hypokalemic paresis, Lower limb muscle weakness, Obesity, Episodic fla... |
ORPHA:79102 |
| Aicardi-Goutieres Syndrome 4 |
|
Cerebral atrophy, Cerebellar atrophy, Leukodystrophy |
OMIM:610333 |
| Fucosidosis |
|
CNS hypomyelination, Cerebral atrophy |
OMIM:230000 |
| Mulibrey Nanism |
|
Cachexia |
ORPHA:2576 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Scoliosis, Kyphosis, Hypertonia, Vertebral segmentation defect |
ORPHA:2617 |
| Heart Defects-Limb Shortening Syndrome |
|
Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:1354 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
CNS hypomyelination |
OMIM:614230 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Weakness of muscles of respiration, Failure to thrive, Shoulder girdle muscle weakness, Foot dors... |
ORPHA:2020 |
| Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Platyspondyly, Kyphosis |
ORPHA:2786 |
| Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Leukodystrophy |
OMIM:618242 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Thoracolumbar scoliosis, Kyphosis |
OMIM:313420 |
| X-Linked Intellectual Disability, Cabezas Type |
|
Broad-based gait, Seizure, Obesity, Tremor, Short neck, Cachexia, Scoliosis, Kyphosis |
ORPHA:85293 |
| Clark-Baraitser syndrome |
|
Obesity, Scoliosis, Kyphosis, Seizure |
OMIM:300602 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination |
ORPHA:477673 |
| Fucosidosis |
|
Spasticity, Spastic tetraplegia, Failure to thrive, Seizure, Abnormal pyramidal sign, Anterior be... |
ORPHA:349 |
| Hengel-Maroofian-Schols Syndrome |
|
Abnormal CNS myelination, Cerebellar atrophy, Cerebral atrophy |
OMIM:619641 |
| Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome |
|
Cachexia |
ORPHA:1144 |
| Cono-Spondylar Dysplasia |
|
Failure to thrive, Seizure, Short neck, Poor coordination, Scoliosis, Kyphosis |
ORPHA:420794 |
| Allergic Bronchopulmonary Aspergillosis |
|
Cerebral cortical atrophy, Weight loss |
ORPHA:1164 |
| Familial Colorectal Cancer Type X |
|
Seizure, Paresthesia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight l... |
ORPHA:440437 |
| Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Obesity, Kyphosis, Hyperlordosis, Cerebellar atrophy |
ORPHA:3085 |
| 4Q21 Microdeletion Syndrome |
|
Seizure, Tremor, Short neck, Scoliosis, Kyphosis |
ORPHA:238750 |
| Nodular Lymphocyte Predominant Hodgkin Lymphoma |
|
Weight loss |
ORPHA:86893 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Cerebellar atrophy, Brain atrophy, Leukodystrophy |
OMIM:618226 |
| Aicardi-Goutieres Syndrome 9 |
|
Optic atrophy, Spasticity, Failure to thrive, Cerebral atrophy, Seizure, Spastic diplegia, Weight... |
OMIM:619487 |
| Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome |
|
Hyperesthesia, Seizure, Severe failure to thrive, Short neck, Cachexia, Scoliosis, Spastic tetrap... |
ORPHA:371364 |
| Cortical Blindness-Intellectual Disability-Polydactyly Syndrome |
|
Cachexia, Hypertonia |
ORPHA:1389 |
| Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome |
|
Weight loss |
ORPHA:2198 |
| Isolated Permanent Neonatal Diabetes Mellitus |
|
Failure to thrive, Peripheral axonal neuropathy, Apraxia, Weight loss, Bilateral tonic-clonic sei... |
ORPHA:99885 |
| 2,4-Dienoyl-Coa Reductase Deficiency |
|
Optic atrophy, Cerebellar atrophy, Cerebral atrophy, Leukodystrophy, Delayed CNS myelination |
OMIM:616034 |
| Hyperphosphatasia-Intellectual Disability Syndrome |
|
Cerebral hypomyelination |
ORPHA:247262 |
| Fliedner-Zweier Syndrome |
|
Cerebellar atrophy, Seizure, Obesity, Hypertonia, Scoliosis, Kyphosis |
OMIM:620511 |
| Takayasu Arteritis |
|
Weight loss, Muscle weakness, Seizure |
ORPHA:3287 |
| Mitochondrial Myopathy And Sideroblastic Anemia |
|
Scoliosis, Kyphosis |
ORPHA:2598 |
| Snakebite Envenomation |
|
Respiratory paralysis, Paralysis, Pseudobulbar paralysis |
ORPHA:449285 |
| 3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form |
|
Cerebral hypomyelination, Delayed myelination |
ORPHA:79351 |
| Peripheral Primitive Neuroectodermal Tumor |
|
Somatic sensory dysfunction, Seizure, Lower limb muscle weakness, Abnormal thoracic spine morphol... |
ORPHA:370348 |
| D-Bifunctional Protein Deficiency |
|
Cerebellar atrophy, Failure to thrive, Seizure, Corpus callosum atrophy, Gliosis, Bilateral tonic... |
OMIM:261515 |
| Trigeminal Neuralgia |
|
Peripheral demyelination, CNS demyelination, Cranial nerve compression |
ORPHA:221091 |
| Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis |
ORPHA:2375 |
| Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Chemodectoma, Carotid paraganglioma, Adrenal pheochromocytoma, Vocal cord pa... |
OMIM:168000 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
CNS hypomyelination |
OMIM:619306 |
| Multiple Sclerosis, Susceptibility To |
|
CNS demyelination |
OMIM:126200 |
| Cockayne Syndrome Type 2 |
|
Difficulty walking, Lower limb spasticity, Gait disturbance, Limb hypertonia, Ataxia, Scoliosis, ... |
ORPHA:90322 |
| Congenital Disorder Of Glycosylation, Type Il |
|
Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizure, Short nec... |
OMIM:608776 |
| Acute Myelomonocytic Leukemia |
|
Weight loss |
ORPHA:517 |
| Mucopolysaccharidosis, Type Iva |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar kyphosis, Short neck, Hyperlordosis, An... |
OMIM:253000 |
| Myofibrillar Myopathy 10 |
|
Kyphosis, Muscle weakness |
OMIM:619040 |
| Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Optic atrophy, Seizure, Inability to walk, Obesity, Unsteady gait, Scoliosis, Kyphosis |
OMIM:618493 |
| Inhalational Botulism |
|
Paralysis, Muscle weakness |
ORPHA:254504 |
| Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1548 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Slender build, Scoliosis, Kyphosis |
OMIM:300676 |
| Graves Disease |
|
Weight loss, Muscle weakness |
OMIM:275000 |
| Andersen-Tawil Syndrome |
|
Periodic hypokalemic paresis, Seizure, Periodic hyperkalemic paralysis, Episodic flaccid weakness... |
ORPHA:37553 |
| Zimmermann-Laband Syndrome 3 |
|
Kyphosis |
OMIM:618658 |
| Frontal Encephalocele |
|
Leukodystrophy |
ORPHA:1931 |
| Epilepsy, Early-Onset, 2, With Or Without Developmental Delay |
|
Delayed CNS myelination |
OMIM:618832 |
| Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... |
ORPHA:276621 |
| Uruguay Faciocardiomusculoskeletal Syndrome |
|
Difficulty walking, Kyphoscoliosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:300280 |
| Arthrogryposis, Distal, Type 5 |
|
Ophthalmoplegia, Scoliosis, Kyphosis, Hypertonia |
OMIM:108145 |
| Gm1-Gangliosidosis, Type I |
|
Seizure, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodies, Hypertonia, Cereb... |
OMIM:230500 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Thoracolumbar kyphosis, Spastic paraplegia, Broad-based gait, Limb ataxia, Paralysis, Bilateral t... |
ORPHA:2072 |
| Papillorenal Syndrome |
|
Seizure, Scoliosis, Gliosis, Optic disc coloboma |
OMIM:120330 |
| Neurodevelopmental Disorder With Hypotonia, Craniofacial Abnormalities, And Seizures |
|
CNS hypomyelination |
OMIM:614501 |
| Plaa-Associated Neurodevelopmental Disorder |
|
Optic atrophy, Failure to thrive, Seizure, Abnormality of extrapyramidal motor function, Rigidity... |
ORPHA:521426 |
| Smith-Mccort Dysplasia 1 |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... |
OMIM:607326 |
| Metatropic Dysplasia |
|
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Abnormal intervertebral di... |
ORPHA:2635 |
| Hip Dysplasia, Beukes Type |
|
Scoliosis, Kyphosis |
ORPHA:2114 |
| Mitochondrial Dna-Associated Leigh Syndrome |
|
Optic atrophy, Spasticity, Ophthalmoparesis, Failure to thrive, Seizure, Chorea, Infantile spasms... |
ORPHA:255210 |
| Choreoacanthocytosis |
|
Resting tremor, Loss of ambulation, Peripheral axonal neuropathy, Parkinsonism, Frontal cortical ... |
ORPHA:2388 |
| Dpagt1-Cdg |
|
Optic atrophy, Cerebral cortical atrophy, Global brain atrophy, CNS hypomyelination, Diffuse opti... |
ORPHA:86309 |
| Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Cachexia, Abnormal form of the vertebral bodies |
ORPHA:93941 |
| Reticular Dysgenesis |
|
Weight loss, Failure to thrive |
ORPHA:33355 |
| Leukodystrophy, Progressive, Early Childhood-Onset |
|
Cerebral atrophy, Optic disc pallor, Leukodystrophy |
OMIM:617762 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple |
OMIM:615761 |
| Pyruvate Carboxylase Deficiency |
|
CNS hypomyelination, Delayed myelination |
ORPHA:3008 |
| Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy |
OMIM:615010 |
| Weismann-Netter Syndrome |
|
Scoliosis, Horizontal sacrum, Kyphosis |
OMIM:112350 |
| Anaplastic Thyroid Carcinoma |
|
Weight loss, Vocal cord paralysis |
ORPHA:142 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Cerebral cortical atrophy, Spasticity, Large for gestational age, Short neck, Lower limb spastici... |
OMIM:300868 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Gliosis, Muscle weakness |
OMIM:231680 |
| Allan-Herndon-Dudley Syndrome |
|
Delayed CNS myelination, Leukodystrophy |
OMIM:300523 |
| Harrod Syndrome |
|
Cerebral cortical atrophy, Failure to thrive, Seizure, Scoliosis, Kyphosis |
ORPHA:2115 |
| Polyarteritis Nodosa |
|
Weight loss, Polyneuritis, Sensory axonal neuropathy |
ORPHA:767 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Cerebral atrophy, Optic atrophy, Leukodystrophy |
OMIM:615330 |
| Combined Oxidative Phosphorylation Deficiency 13 |
|
Leukodystrophy |
OMIM:614932 |
| Erythrokeratodermia Variabilis |
|
Weight loss |
ORPHA:317 |
| Ring Chromosome 10 Syndrome |
|
Short neck, Cachexia, Seizure |
ORPHA:1438 |
| Helsmoortel-Van Der Aa Syndrome |
|
Typical absence seizure, Failure to thrive, Seizure, Obesity, Tonic seizure, Gliosis, Hyperlordos... |
OMIM:615873 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Spasticity, Failure to thrive, Seizure, Generalized-onset seizure, Peripheral demyelination, Trem... |
OMIM:220111 |
| Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Chemodectoma, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis, Glomus jugular tumor... |
OMIM:605373 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Spasticity, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizur... |
OMIM:618426 |
| Congenital Disorder Of Glycosylation, Type Ia |
|
Kyphosis, Cerebellar atrophy, Seizure, Failure to thrive, Generalized-onset seizure, Tremor, Dysm... |
OMIM:212065 |
| Whipple Disease |
|
Seizure, Myoclonus, Cachexia, Abnormal pyramidal sign, Ataxia, Muscle weakness |
ORPHA:3452 |
| Mu-Heavy Chain Disease |
|
Weight loss |
ORPHA:100024 |
| Pontocerebellar Hypoplasia, Type 17 |
|
Spastic tetraplegia, Limb hypertonia, Kyphosis, Seizure |
OMIM:619909 |
| Canavan Disease |
|
Optic atrophy, CNS demyelination, Brain atrophy |
OMIM:271900 |
| Hereditary Central Diabetes Insipidus |
|
Weight loss |
ORPHA:30925 |
| Coffin-Lowry Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Abnormal form of the vertebral bodies, Seizure, Gait di... |
ORPHA:192 |
| Childhood-Onset Spasticity With Hyperglycinemia |
|
Optic atrophy, Leukodystrophy |
ORPHA:401866 |
| Liposarcoma |
|
Paresthesia, Weight loss |
ORPHA:69078 |
| Beta-Ketothiolase Deficiency |
|
Spasticity, Seizure, Weight loss, Ataxia, Extrapyramidal dyskinesia |
ORPHA:134 |
| Camurati-Engelmann Disease |
|
Optic atrophy, Abnormality of the vertebral column, Slender build, Optic nerve compression, Cache... |
ORPHA:1328 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Platyspondyly, Thoracolumbar kyphosis, Small for gestational age, Seizure, Kyphoscoliosis, Abnorm... |
ORPHA:93360 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... |
OMIM:313400 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Lumbar hyperlordosis... |
OMIM:183900 |
| Parkinson Disease 4, Autosomal Dominant |
|
Parkinsonism, Weight loss |
OMIM:605543 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Cerebral cortical atrophy, Respiratory insufficiency due to muscle weakness, Spina bifida occulta... |
OMIM:618291 |
| Bone Dysplasia, Lethal Holmgren Type |
|
Short neck, Weight loss, Failure to thrive |
ORPHA:1842 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Spasticity, Cerebellar atrophy, Seizure, Gait imbalance, Tremor, Prominent protruding coccyx, Sho... |
OMIM:300966 |
| Oromandibular Dystonia |
|
Blepharospasm, Weight loss, Torticollis, Hyperkinetic movements |
ORPHA:93958 |
| Rett Syndrome, Congenital Variant |
|
Spasticity, Seizure, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis |
OMIM:613454 |
| Spondyloepiphyseal Dysplasia Congenita |
|
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Waddling gait, Cervical instability, S... |
ORPHA:94068 |
| Giant Cell Arteritis |
|
Optic atrophy, Ophthalmoparesis, Paresthesia, Weight loss, Ataxia, Muscle weakness |
ORPHA:397 |
| Attrv30M Amyloidosis |
|
Weight loss |
ORPHA:85447 |
| Encephalocraniocutaneous Lipomatosis |
|
Cerebral cortical atrophy, Spasticity, Cerebral atrophy, Seizure, Hemiplegia, Rigidity, Hemipares... |
ORPHA:2396 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, Seizure |
OMIM:615433 |
| Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Cold paresis |
ORPHA:684 |
| Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy |
|
Cachexia, Gait disturbance |
ORPHA:2774 |
| Neuroblastoma |
|
Myoclonus, Weight loss, Antalgic gait, Ataxia |
ORPHA:635 |
| Pleural Mesothelioma |
|
Weight loss |
ORPHA:50251 |
| Follicular Lymphoma |
|
Weight loss |
ORPHA:545 |
| Leukodystrophy, Hypomyelinating, 9 |
|
Cerebral atrophy, Leukodystrophy |
OMIM:616140 |
| Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Large for gestational age, Kyphosis, Sacral dimple |
OMIM:618272 |
| Osteogenesis Imperfecta, Type Ix |
|
Platyspondyly, Scoliosis, Kyphosis |
OMIM:259440 |
| Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Focal myoclonic seizure, Cervical spi... |
ORPHA:508533 |
| Polymyositis |
|
Gait disturbance, Weight loss, Proximal muscle weakness |
ORPHA:732 |
| Desbuquois Dysplasia 1 |
|
Platyspondyly, Obesity, Short neck, Hyperlordosis, Scoliosis, Kyphosis, Waddling gait |
OMIM:251450 |
| Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
|
Cerebral cortical atrophy, Cerebellar atrophy, Seizure, Large for gestational age, Gait ataxia, H... |
OMIM:617011 |
| Mucopolysaccharidosis, Type Ivb |
|
Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis, Ataxia, Cervical subluxation, S... |
OMIM:253010 |
| Distal 16P11.2 Microdeletion Syndrome |
|
Obesity, Kyphosis, Seizure |
ORPHA:261222 |
| Hirschsprung Disease |
|
Failure to thrive in infancy, Weight loss |
ORPHA:388 |
| Mucopolysaccharidosis Type 4 |
|
Platyspondyly, Spinal canal stenosis, Short neck, Gait disturbance, Hyperlordosis, Scoliosis, Kyp... |
ORPHA:582 |
| Hereditary Pheochromocytoma-Paraganglioma |
|
Cranial nerve compression, Tremor, Adrenal pheochromocytoma, Paraganglioma, Vocal cord paralysis,... |
ORPHA:29072 |
| Leukodystrophy, Hypomyelinating, 13 |
|
Optic atrophy, Delayed CNS myelination, Leukodystrophy |
OMIM:616881 |
| Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Scoliosis, Kyphosis, Obesity |
ORPHA:3191 |
| Inflammatory Pseudotumor Of The Liver |
|
Weight loss |
ORPHA:90003 |
| Hypercalcemia, Infantile, 1 |
|
Weight loss, Failure to thrive |
OMIM:143880 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Scoliosis, Kyphosis |
OMIM:130060 |
| Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome |
|
Cerebral hypomyelination, Brain atrophy |
ORPHA:447997 |
| Emanuel Syndrome |
|
Failure to thrive, Cerebral atrophy, Seizure, Torticollis, Scoliosis, Kyphosis, Sacral dimple |
OMIM:609029 |
| Shashi-Pena Syndrome |
|
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Cervical C2/C3 vertebral ... |
OMIM:617190 |
| Mast Cell Sarcoma |
|
Weight loss |
ORPHA:66661 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Failure to thrive, Seizure, Gait ataxia, Tremor, Scoliosis, Kyphosis |
ORPHA:476126 |
| Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Delayed CNS myelination, CNS demyelination |
OMIM:619653 |
| Eosinophilic Fasciitis |
|
Paresthesia, Weight loss |
ORPHA:3165 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 4 |
|
Leukodystrophy |
OMIM:619224 |
| Thanatophoric Dysplasia |
|
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis, Seizure |
ORPHA:2655 |
| Renpenning Syndrome |
|
Cachexia, Seizure |
ORPHA:3242 |
| Poems Syndrome |
|
Hyperesthesia, Sclerotic vertebral endplates, Paresthesia, Papilledema, Weight loss, Respiratory ... |
ORPHA:2905 |
| Schilder Disease |
|
CNS demyelination |
ORPHA:59298 |
| Pfapa Syndrome |
|
Weight loss |
ORPHA:42642 |
| Pseudoachondroplasia |
|
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... |
OMIM:177170 |
| Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
| Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis |
|
Abnormal vertebral morphology, Abnormal sacroiliac joint morphology, Scoliosis, Weight loss |
ORPHA:324964 |
| Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Failure to thrive, Seizure, Gait disturbance, Overweight, Scoliosis, Kyphosis |
ORPHA:500055 |
| Cutis Laxa, Autosomal Recessive, Type Iid |
|
Failure to thrive, Gliosis, Seizure, Kyphoscoliosis |
OMIM:617403 |
| Alveolar Echinococcosis |
|
Abnormal vertebral morphology, Seizure, Hemiparesis, Low back pain, Weight loss, Ataxia |
ORPHA:284 |
| Waardenburg Syndrome, Type 2E |
|
Cerebral hypomyelination |
OMIM:611584 |
| Megalocornea-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Seizure, Ataxia |
ORPHA:2479 |
| Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis |
OMIM:616455 |
| Micro Syndrome |
|
Optic atrophy, Spasticity, Cerebral cortical atrophy, Seizure, Scoliosis, Kyphosis |
ORPHA:2510 |
| Aicardi-Goutieres Syndrome 5 |
|
Leukodystrophy |
OMIM:612952 |
| Celiac Disease, Susceptibility To, 1 |
|
Weight loss, Failure to thrive, Seizure, Ataxia |
OMIM:212750 |
| Inflammatory Bowel Disease 11 |
|
Weight loss |
OMIM:191390 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ophthalmoparesis, Slender build, Distal sensory impairment, Progressive external ophthalmoplegia,... |
OMIM:603041 |
| Brachyolmia Type 3 |
|
Platyspondyly, Short neck, Scoliosis, Kyphosis |
OMIM:113500 |
| Pseudomyxoma Peritonei |
|
Weight loss |
ORPHA:26790 |
| Leukodystrophy, Hypomyelinating, 4 |
|
Leukodystrophy |
OMIM:612233 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Cerebellar atrophy, Babinski sign, Hypertonia, Torticollis, Scoliosis, Spastic tetraplegia |
OMIM:619071 |
| Waardenburg Syndrome, Type 4A |
|
Leukodystrophy |
OMIM:277580 |
| African Trypanosomiasis |
|
Involuntary movements, Somatic sensory dysfunction, Seizure, Fasciculations, Difficulty walking, ... |
ORPHA:3385 |
| Wild Type Attr Amyloidosis |
|
Impaired vibratory sensation, Weight loss, Spinal canal stenosis |
ORPHA:330001 |
| 3-Hydroxy-3-Methylglutaric Aciduria |
|
Spasticity, Seizure, Myoclonus, Spastic hemiparesis, Weight loss, Ataxia |
ORPHA:20 |
| Arthrogryposis, Distal, Type 4 |
|
Lumbar scoliosis, Scoliosis, Kyphosis, Torticollis |
OMIM:609128 |
| 15Q24 Microdeletion Syndrome |
|
Kyphosis, Failure to thrive, Obesity, Scoliosis, Small for gestational age |
ORPHA:94065 |
| Inflammatory Bowel Disease (Crohn Disease) 1 |
|
Weight loss |
OMIM:266600 |
| Rift Valley Fever |
|
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, Muscle weakness |
ORPHA:319251 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Short neck, Kyphosis, Hyperlordosis, Fused cervical vertebrae |
ORPHA:2522 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Pain insensitivity, Seizure, Tremor, Scoliosis, Kyphosis |
OMIM:617061 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Failure to thrive, Gait disturbance, Lower limb spasticity, Facial palsy, Scoliosi... |
ORPHA:261349 |
| Peroxisome Biogenesis Disorder 6B |
|
Cerebellar atrophy, Leukodystrophy, Motor axonal neuropathy |
OMIM:614871 |
| Alpha-Mannosidosis |
|
Short neck, Scoliosis, Kyphosis |
ORPHA:61 |
| Thanatophoric Dysplasia Type 2 |
|
Platyspondyly, Kyphosis, Seizure |
ORPHA:93274 |
| Pyruvate Carboxylase Deficiency |
|
Leukodystrophy |
OMIM:266150 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Central nervous system degeneration, Gait disturbance, Weight loss, Hemiplegia/hemiparesis |
ORPHA:183 |
| Frank-Ter Haar Syndrome |
|
Beaking of vertebral bodies, Scoliosis, Kyphosis |
ORPHA:137834 |
| Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Cerebral cortical atrophy, Difficulty walking, Slender build, Lumbar hyperlordosis, Large for ges... |
ORPHA:457359 |
| Sjogren-Larsson Syndrome |
|
CNS demyelination |
OMIM:270200 |
| Malignant Atrophic Papulosis |
|
Pain insensitivity, Weight loss, Muscle flaccidity, Seizure |
ORPHA:679 |
| Bruck Syndrome 1 |
|
Platyspondyly, Scoliosis, Vertebral wedging, Kyphosis |
OMIM:259450 |
| Diastrophic Dysplasia |
|
Kyphosis, Scoliosis, Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies |
ORPHA:628 |
| Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Cerebral atrophy, Tetraparesis, Seizure, Lower limb spasticity, Limb hyperton... |
OMIM:615846 |
| Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Kyphosis |
ORPHA:77300 |
| Rhizomelic Syndrome, Urbach Type |
|
Short neck, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:3098 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Seizure, Cerebral atrophy, Scoliosis, Kyphosis |
OMIM:616449 |
| Ruvalcaba Syndrome |
|
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Seizure |
ORPHA:3121 |
| Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Spasticity, Broad-based gait, Neurodegeneration, Peripheral demyelination, Decreased body weight,... |
OMIM:619475 |
| Achondroplasia |
|
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Obesity, Spinal can... |
ORPHA:15 |
| Fountain Syndrome |
|
Abnormal form of the vertebral bodies, Seizure, Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:3219 |
| Urban-Rogers-Meyer Syndrome |
|
Short neck, Obesity, Kyphosis |
ORPHA:3409 |
| Xfe Progeroid Syndrome |
|
Optic atrophy, Failure to thrive, Cachexia, Poor coordination, Scoliosis |
OMIM:610965 |
| Immunodeficiency 27A |
|
Weight loss |
OMIM:209950 |
| Tetrasomy 12P |
|
Short neck, Cachexia |
ORPHA:884 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Weight loss |
ORPHA:312 |
| Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Cachexia, Weight loss |
ORPHA:1979 |
| Thymic Neuroendocrine Tumor |
|
Pancreatic islet cell adenoma, Carcinoid tumor, Weight loss, Neuroendocrine neoplasm |
ORPHA:97289 |
| Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion |
|
Scoliosis, Kyphosis, Seizure |
ORPHA:261190 |
| Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
Spasticity, Cerebral atrophy, Seizure, Kyphoscoliosis, Hemivertebrae, Bilateral tonic-clonic seiz... |
OMIM:301040 |
| Trisomy 13 |
|
Optic atrophy, Scoliosis, Kyphosis, Seizure |
ORPHA:3378 |
| 19P13.12 Microdeletion Syndrome |
|
Seizure, Obesity, Short neck, Scoliosis, Kyphosis |
ORPHA:254346 |
| Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Cerebral atrophy, Leukodystrophy |
OMIM:614462 |
| Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
| Ruvalcaba Syndrome |
|
Scoliosis, Kyphosis |
OMIM:180870 |
| Bruck Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis |
ORPHA:2771 |
| Xeroderma Pigmentosum-Cockayne Syndrome Complex |
|
Optic atrophy, Spasticity, Cachexia, Ataxia |
ORPHA:220295 |
| Laryngeal Abductor Paralysis |
|
Vocal cord paralysis |
OMIM:150260 |
| Cronkhite-Canada Syndrome |
|
Cachexia, Seizure |
ORPHA:2930 |
| Orofaciodigital Syndrome Iii |
|
Myoclonus, Kyphosis |
OMIM:258850 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Cerebral cortical atrophy, Small for gestational age, Failure to thrive, Seizure, Abnormality of ... |
ORPHA:464311 |
| Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes |
|
Cachexia, Paresthesia, Muscle weakness |
OMIM:175500 |
| Acquired Hypertrichosis Lanuginosa |
|
Weight loss |
ORPHA:2221 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 10 |
|
Abnormal CNS myelination |
OMIM:619053 |
| Cockayne Syndrome A |
|
Optic atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Seizure, Peripheral dysmy... |
OMIM:216400 |
| Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Seizure, Corpus callosum atrophy, Kyphosis, Cerebral atrophy |
OMIM:619244 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Failure to thrive, Tip-toe gait, Seizure, Scoliosis, Kyphosis |
OMIM:618050 |
| Multiple Sulfatase Deficiency |
|
Peripheral demyelination, CNS demyelination, Cerebral atrophy, Cerebellar atrophy |
OMIM:272200 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Spasticity, Cerebral atrophy, Seizure, Difficulty walking, Inability to walk, Scoliosis, Kyphosis |
ORPHA:464738 |
| Trisomy 20P |
|
Platyspondyly, Abnormal form of the vertebral bodies, Incoordination, Vertebral segmentation defe... |
ORPHA:261318 |
| Aredyld Syndrome |
|
Cachexia, Scoliosis |
ORPHA:1133 |
| Autosomal Recessive Spondylocostal Dysostosis |
|
Abnormal form of the vertebral bodies, Vertebral segmentation defect, Short neck, Spina bifida oc... |
ORPHA:2311 |
| Cockayne Syndrome B |
|
Optic atrophy, Small for gestational age, Failure to thrive, Cerebral atrophy, Seizure, Periphera... |
OMIM:133540 |
| Weismann-Netter Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:3344 |
| Chronic Beryllium Disease |
|
Weight loss |
ORPHA:133 |
| Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Scoliosis, Kyphosis, Seizure, Febrile seizure (within the age range of 3 months to 6 years) |
ORPHA:404440 |
| Schwartz-Jampel Syndrome |
|
Platyspondyly, Blepharospasm, Muscle weakness, Abnormally straight spine, Decreased body weight, ... |
ORPHA:800 |
| 8P23.1 Microdeletion Syndrome |
|
Short neck, Weight loss, Obesity, Seizure |
ORPHA:251071 |
| Osteosarcoma |
|
Weight loss |
ORPHA:668 |
| Desmoplastic Small Round Cell Tumor |
|
Cachexia, Weight loss |
ORPHA:83469 |
| Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Scoliosis, Kyphosis, Seizure |
ORPHA:261144 |
| Familial Hyperthyroidism Due To Mutations In Tsh Receptor |
|
Weight loss, Small for gestational age, Hand tremor |
ORPHA:424 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Kyphosis, Seizure, Thoracic scoliosis |
OMIM:603387 |
| Wiedemann-Rautenstrauch Syndrome |
|
Optic atrophy, CNS hypomyelination, Leukodystrophy |
ORPHA:3455 |
| Benign Recurrent Intrahepatic Cholestasis |
|
Weight loss |
ORPHA:65682 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Leukodystrophy |
OMIM:614299 |
| Dyggve-Melchior-Clausen Disease |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... |
OMIM:223800 |
| Cap Polyposis |
|
Weight loss |
ORPHA:160148 |
| Cowden Syndrome 5 |
|
Scoliosis, Kyphosis, Seizure, Intention tremor |
OMIM:615108 |
| Weaver Syndrome |
|
Spasticity, Generalized non-motor (absence) seizure, Seizure, Hypertonia, Bilateral tonic-clonic ... |
OMIM:277590 |
| Becker Nevus Syndrome |
|
Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:64755 |
| Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:1883 |
| X-Linked Agammaglobulinemia |
|
Weight loss, Failure to thrive |
ORPHA:47 |
| Igg4-Related Aortitis |
|
Low back pain, Weight loss |
ORPHA:449400 |
| Gabriele-De Vries Syndrome |
|
Small for gestational age, Gliosis, Tremor, Waddling gait |
ORPHA:506358 |
| Mucopolysaccharidosis, Type Vii |
|
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... |
OMIM:253220 |
| Lynch Syndrome |
|
Seizure, Paresthesia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight l... |
ORPHA:144 |
| Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hemivertebrae, Vertebral fus... |
ORPHA:2916 |
| Xeroderma Pigmentosum, Complementation Group B |
|
Abnormal CNS myelination, Optic atrophy, Cerebellar atrophy |
OMIM:610651 |
| Peritoneal Cystic Mesothelioma |
|
Weight loss |
ORPHA:168816 |
| Idiopathic Bronchiectasis |
|
Cachexia |
ORPHA:60033 |
| Leishmaniasis |
|
Weight loss |
ORPHA:507 |
| Mucopolysaccharidosis, Type Ii |
|
Seizure, Neurodegeneration, Short neck, Papilledema, Kyphosis |
OMIM:309900 |
| Familial Glucocorticoid Deficiency |
|
Hypoglycemic seizures, Weight loss, Tetraplegia, Failure to thrive |
ORPHA:361 |
| Riddle Syndrome |
|
Poor hand-eye coordination, Clumsiness, Gait disturbance, Weight loss, Ataxia |
ORPHA:420741 |
| Stickler Syndrome, Type I |
|
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... |
OMIM:108300 |
| Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
| Congenital Enterocyte Heparan Sulfate Deficiency |
|
Weight loss |
ORPHA:103910 |
| Marchiafava-Bignami Disease |
|
Facial palsy, CNS demyelination |
ORPHA:221074 |
| Kaposi Sarcoma |
|
Weight loss |
ORPHA:33276 |
| Orofaciodigital Syndrome Xiv |
|
CNS hypomyelination, Optic disc coloboma |
OMIM:615948 |
| Medullary Thyroid Carcinoma |
|
Pheochromocytoma, Weight loss |
ORPHA:1332 |
| Isolated Sedoheptulokinase Deficiency |
|
Abnormal CNS myelination, Subcortical cerebral atrophy |
ORPHA:440713 |
| Late-Onset Isolated Acth Deficiency |
|
Muscle weakness, Weight loss, Failure to thrive, Seizure |
ORPHA:199299 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Cerebral cortical atrophy, Small for gestational age, Failure to thrive, Seizure, Febrile seizure... |
ORPHA:464306 |
| Cowden Syndrome 6 |
|
Scoliosis, Kyphosis, Seizure, Intention tremor |
OMIM:615109 |
| Malignant Peritoneal Mesothelioma |
|
Weight loss |
ORPHA:168811 |
| Cockayne Syndrome Type 3 |
|
Seizure, Difficulty walking, Astrocytosis, Brain atrophy, Intention tremor, Peripheral axonal neu... |
ORPHA:90324 |
| Trisomy 9P |
|
Short neck, Scoliosis, Kyphosis, Sacral dimple |
ORPHA:236 |
| Progressive Encephalopathy With Leukodystrophy Due To Decr Deficiency |
|
Cerebellar atrophy, Leukodystrophy |
ORPHA:431361 |
| Congenital Tufting Enteropathy |
|
Weight loss, Failure to thrive, Optic disc coloboma |
ORPHA:92050 |
| Neuroendocrine Tumor Of The Colon |
|
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100080 |
| Majeed Syndrome |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:77297 |
| Pineoblastoma |
|
Paralysis, Papilledema, Seizure |
ORPHA:251909 |
| Difference Of Sex Development-Intellectual Disability Syndrome |
|
Spina bifida occulta, Short neck, Kyphosis |
ORPHA:2983 |
| Alg8-Cdg |
|
Optic atrophy, Cerebral cortical atrophy, Leukodystrophy |
ORPHA:79325 |
| Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Weight loss |
ORPHA:411703 |
| Mucolipidosis Iii Gamma |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
OMIM:252605 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Weight loss |
ORPHA:3226 |
| Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome |
|
Weight loss |
ORPHA:79127 |
| Mucopolysaccharidosis Type 6 |
|
Short neck, Failure to thrive, Kyphosis, Ovoid vertebral bodies |
ORPHA:583 |
| Mgat2-Cdg |
|
Kyphosis, Failure to thrive, Seizure, Infantile spasms, Scoliosis, Brain atrophy |
ORPHA:79329 |
| Pycnodysostosis |
|
Spondylolysis, Spondylolisthesis, Hyperlordosis, Upper motor neuron dysfunction, Overweight, Scol... |
ORPHA:763 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
|
Leukodystrophy |
OMIM:619051 |
| Oculogastrointestinal Muscular Dystrophy |
|
External ophthalmoplegia, Cachexia |
ORPHA:1876 |
| Bannayan-Riley-Ruvalcaba Syndrome |
|
Seizure, Abdominal wall muscle weakness, Cachexia, Scoliosis, Muscle weakness |
ORPHA:109 |
| Koolen-De Vries Syndrome |
|
Small for gestational age, Failure to thrive, Seizure, Spondylolisthesis, Vertebral fusion, Scoli... |
OMIM:610443 |
| Marden-Walker Syndrome |
|
Short neck, Scoliosis, Kyphosis, Seizure |
OMIM:248700 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Abnormal CNS myelination |
ORPHA:206443 |
| Bullous Pemphigoid |
|
Weight loss |
ORPHA:703 |
| Thanatophoric Dysplasia Type 1 |
|
Platyspondyly, Abnormal sacroiliac joint morphology, Kyphosis, Seizure |
ORPHA:1860 |
| Adrenocortical Carcinoma |
|
Increased body weight, Weight loss, Muscle weakness |
ORPHA:1501 |
| Distal Renal Tubular Acidosis |
|
Paralysis, Failure to thrive, Muscle weakness, Respiratory insufficiency due to muscle weakness |
ORPHA:18 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Leukodystrophy |
OMIM:610678 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, CNS demyelination |
ORPHA:494344 |
| Familial Thrombocytosis |
|
Paresthesia, Weight loss, Seizure |
ORPHA:71493 |
| Microphthalmia, Lenz Type |
|
Seizure, Optic disc coloboma, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:568 |
| Multiple Myeloma |
|
Vertebral compression fracture, Paresthesia, Weight loss, Generalized muscle weakness |
ORPHA:29073 |
| Acute Promyelocytic Leukemia |
|
Weight loss, Muscle weakness |
ORPHA:520 |
| Fryns-Smeets-Thiry Syndrome |
|
Cachexia, Scoliosis |
ORPHA:2058 |
| Prader-Willi Syndrome |
|
Impaired pain sensation, Seizure, Class III obesity, Failure to thrive in infancy, Obesity, Abdom... |
OMIM:176270 |
| X-Linked Cerebral Adrenoleukodystrophy |
|
Peripheral axonal neuropathy, Diffuse demyelination of the cerebral white matter, Global brain at... |
ORPHA:139396 |
| Generalized Pseudohypoaldosteronism Type 1 |
|
Failure to thrive in infancy, Weight loss |
ORPHA:171876 |
| Adult Krabbe Disease |
|
Peripheral demyelination, CNS demyelination |
ORPHA:206448 |
| Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Short neck, Kyphosis |
ORPHA:3082 |
| Progressive Non-Infectious Anterior Vertebral Fusion |
|
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... |
ORPHA:2062 |
| 3C Syndrome |
|
Optic atrophy, Short neck, Hemivertebrae, Scoliosis, Kyphosis |
ORPHA:7 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Platyspondyly, Kyphosis, Seizure, Lumbar hyperlordosis, Focal impaired awareness seizure |
OMIM:616482 |
| Ramon Syndrome |
|
Seizure, Decreased body weight, Optic disc pallor, Scoliosis, Kyphosis |
OMIM:266270 |
| Symptomatic Form Of Hfe-Related Hemochromatosis |
|
Weight loss, Muscle weakness |
ORPHA:465508 |
| Cohen Syndrome |
|
Optic atrophy, Seizure, Failure to thrive in infancy, Obesity, Scoliosis, Kyphosis |
ORPHA:193 |
| Neuroendocrine Tumor Of The Rectum |
|
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100081 |
| Neuroendocrine Tumor Of Anal Canal |
|
Weight loss, Carcinoid tumor, Atypical pulmonary carcinoid tumor |
ORPHA:100082 |
| Developmental Malformations-Deafness-Dystonia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:79107 |
| Atelis Syndrome 2 |
|
Dysmetria, Seizure, Kyphosis, Sacral dimple |
OMIM:620185 |
| Andersen Cardiodysrhythmic Periodic Paralysis |
|
Periodic paralysis, Scoliosis, Periodic hypokalemic paresis |
OMIM:170390 |
| Cryptogenic Organizing Pneumonia |
|
Weight loss |
ORPHA:1302 |
| Familial Gestational Hyperthyroidism |
|
Weight loss, Hand tremor |
ORPHA:99819 |
| Acquired Central Diabetes Insipidus |
|
Weight loss |
ORPHA:95626 |
| Silver-Russell Syndrome |
|
Failure to thrive in infancy, Cachexia, Scoliosis, Obesity |
ORPHA:813 |
| Peroxisome Biogenesis Disorder 12A (Zellweger) |
|
CNS demyelination, Cerebral atrophy |
OMIM:614886 |
| X-Linked Intellectual Disability, Snyder Type |
|
Involuntary movements, Generalized myoclonic seizure, Inability to walk, Myoclonus, Kyphoscoliosi... |
ORPHA:3063 |
| 3M Syndrome |
|
Increased vertebral height, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:2616 |
| Secondary Short Bowel Syndrome |
|
Weight loss, Failure to thrive |
ORPHA:95427 |
| Osteogenesis Imperfecta, Type Iii |
|
Scoliosis, Kyphosis, Biconcave vertebral bodies |
OMIM:259420 |
| Wolf-Hirschhorn Syndrome |
|
Abnormal vertebral morphology, Optic atrophy, Abnormality of the vertebral column, Abnormal form ... |
ORPHA:280 |
| Marfanoid Habitus With Situs Inversus |
|
Scoliosis, Kyphosis |
OMIM:609008 |
| Nephroblastoma |
|
Weight loss |
ORPHA:654 |
| Spondyloenchondrodysplasia |
|
Platyspondyly, Spasticity, Seizure, Chorea, Kyphosis |
ORPHA:1855 |
| Idiopathic Chronic Eosinophilic Pneumonia |
|
Weight loss |
ORPHA:2902 |
| Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Cerebral atrophy, Delayed CNS myelination, Cerebellar atrophy, Leukodystrophy |
OMIM:615471 |
| Multiple Endocrine Neoplasia, Type Iib |
|
Failure to thrive in infancy, Pheochromocytoma, Ganglioneuroma, Hyperlordosis, Scoliosis, Kyphosis |
OMIM:162300 |
| Koolen-De Vries Syndrome |
|
Seizure, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis |
ORPHA:96169 |
| Cowden Syndrome 1 |
|
Scoliosis, Kyphosis, Seizure, Intention tremor |
OMIM:158350 |
| Intellectual Developmental Disorder, Autosomal Dominant 73 |
|
Spasticity, Tip-toe gait, Seizure, Febrile seizure (within the age range of 3 months to 6 years),... |
OMIM:620450 |
| Pituitary Adenoma 4, Acth-Secreting |
|
Obesity, Biconcave vertebral bodies, Abdominal obesity, Vertebral compression fracture, Kyphosis |
OMIM:219090 |
| Solitary Fibrous Tumor |
|
Low back pain, Weight loss |
ORPHA:2126 |
| Paget Disease Of Bone 5, Juvenile-Onset |
|
Muscle weakness, Kyphosis, Failure to thrive |
OMIM:239000 |
| Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Abnormal form of the vertebral bodies, Seizure, Posterior scalloping of vertebral bodies, Gait di... |
ORPHA:3042 |
| Thymoma |
|
Weight loss, Muscle weakness |
ORPHA:99867 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Seizure, Speech apraxia, Slender build, Tremor, Kyphoscoliosis, Ataxia, Scoliosis, Kyphosis |
OMIM:300967 |
| Yao Syndrome |
|
Weight loss |
OMIM:617321 |
| Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
|
Impaired pain sensation, Seizure, Decreased body weight, Scoliosis, Kyphosis |
OMIM:619005 |
| Diets-Jongmans Syndrome |
|
Gliosis, Seizure |
OMIM:618846 |
| Magel2-Related Prader-Willi-Like Syndrome |
|
Failure to thrive, Seizure, Impaired temperature sensation, Increased body weight, Abdominal obes... |
ORPHA:398069 |
| Carney-Stratakis Syndrome |
|
Weight loss, Paraganglioma |
ORPHA:97286 |
| Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Scoliosis, Kyphosis |
OMIM:615381 |
| Diffuse Alveolar Hemorrhage |
|
Weight loss |
ORPHA:90060 |
| 16Q24.3 Microdeletion Syndrome |
|
Scoliosis, Kyphosis, Seizure, Optic nerve hypoplasia |
ORPHA:261250 |
| Biliary, Renal, Neurologic, And Skeletal Syndrome |
|
Frontotemporal cerebral atrophy, CNS hypomyelination |
OMIM:619534 |
| Glucose-Galactose Malabsorption |
|
Weight loss, Failure to thrive |
ORPHA:35710 |
| Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2 |
|
Kyphosis, Caudal interpedicular narrowing, Scoliosis, Posterior scalloping of vertebral bodies, I... |
OMIM:603546 |
| Eosinophilic Gastroenteritis |
|
Weight loss |
ORPHA:2070 |
| Simple Cryoglobulinemia |
|
Weight loss, Paresthesia, Spontaneous pain sensation, Seizure |
ORPHA:91139 |
| Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome |
|
Cerebral hypomyelination |
ORPHA:513456 |
| Acrodermatitis Enteropathica |
|
Cerebral cortical atrophy, Weight loss, Failure to thrive |
ORPHA:37 |
| Aggressive Systemic Mastocytosis |
|
Weight loss |
ORPHA:98850 |
| Behçet Disease |
|
Seizure, Paresthesia, Hemiparesis, Abnormal pyramidal sign, Gait disturbance, Weight loss, Ataxia |
ORPHA:117 |
| Marshall-Smith Syndrome |
|
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Optic nerve hypoplasia, Failure to ... |
OMIM:602535 |
| Loeffler Endocarditis |
|
Weight loss |
ORPHA:75566 |
| Lateral Meningocele Syndrome |
|
Abnormal form of the vertebral bodies, Short neck, Hyperlordosis, Scoliosis, Kyphosis |
ORPHA:2789 |
| Chromosome Xq26.3 Duplication Syndrome |
|
Kyphosis, Seizure |
OMIM:300942 |
| Hurler Syndrome |
|
Abnormal CNS myelination, Neurodegeneration |
OMIM:607014 |
| Acute Adrenal Insufficiency |
|
Muscle weakness, Weight loss, Failure to thrive, Seizure |
ORPHA:95409 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Weight loss, Carcinoid tumor, Neuroendocrine neoplasm |
ORPHA:100085 |
| 2Q31.1 Microdeletion Syndrome |
|
Cerebral cortical atrophy, Optic disc coloboma, Seizure, Vertebral segmentation defect, Short nec... |
ORPHA:251014 |
| Bronchial Neuroendocrine Tumor |
|
Weight loss, Pulmonary carcinoid tumor |
ORPHA:97287 |
| Dysostosis, Stanescu Type |
|
Kyphosis, Short neck, Scoliosis, Hyperlordosis |
ORPHA:1798 |
| Rheumatoid Arthritis |
|
Weight loss |
OMIM:180300 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Hemiplegia, Cachexia |
ORPHA:3217 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Scoliosis, Kyphosis |
ORPHA:1969 |
| Wolman Disease |
|
Cachexia |
ORPHA:75233 |
| Mucolipidosis Type Ii |
|
Inability to walk, Weight loss, Kyphosis |
ORPHA:576 |
| Ménétrier Disease |
|
Weight loss |
ORPHA:2494 |
| Acro-Renal-Mandibular Syndrome |
|
Butterfly vertebrae, Short neck, Hemivertebrae, Scoliosis, Kyphosis |
ORPHA:958 |
| Cystic Echinococcosis |
|
Weight loss, Abnormality of the vertebral column |
ORPHA:400 |
| Gitelman Syndrome |
|
Failure to thrive, Paresthesia, Paralysis, Focal-onset seizure, Muscle weakness |
ORPHA:358 |
| Acute Monoblastic/Monocytic Leukemia |
|
Weight loss |
ORPHA:514 |
| Erdheim-Chester Disease |
|
Weight loss, Ataxia |
ORPHA:35687 |
| Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Optic atrophy, Seizure, Hemiplegia/hemiparesis, Scoliosis, Kyphosis |
ORPHA:394 |
| Acth-Independent Macronodular Adrenal Hyperplasia |
|
Kyphosis, Truncal obesity |
OMIM:219080 |
| Felty Syndrome |
|
Weight loss |
ORPHA:47612 |
| Neuroendocrine Tumor Of Stomach |
|
Weight loss, Carcinoid tumor, Paraganglioma, Atypical pulmonary carcinoid tumor |
ORPHA:100075 |
| Secondary Syringomyelia |
|
CNS demyelination, Facial paralysis |
ORPHA:99857 |
| Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Kyphosis, Truncal obesity |
OMIM:610475 |
| Short Syndrome |
|
Weight loss |
ORPHA:3163 |
| Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Difficulty walking, Scoliosis, Kyphosis, Seizure |
OMIM:619482 |
| Systemic Capillary Leak Syndrome |
|
Weight loss |
ORPHA:188 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Weight loss |
ORPHA:86884 |
| Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Kyphosis, Scoliosis, Hyperlordosis |
OMIM:617821 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Leukodystrophy |
ORPHA:444013 |
| Aicardi-Goutieres Syndrome 1 |
|
CNS demyelination, Cerebral atrophy |
OMIM:225750 |
| 19Q13.11 Microdeletion Syndrome |
|
Cachexia, Failure to thrive |
ORPHA:217346 |
| Cole-Carpenter Syndrome |
|
Scoliosis, Kyphosis, Abnormal form of the vertebral bodies |
ORPHA:2050 |
| Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Scoliosis, Kyphosis, Vertebral segmentation defect |
ORPHA:1005 |
| Pneumocystosis |
|
Weight loss |
ORPHA:723 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Small for gestational age, Cervical spinal canal stenosis, Seizure, Generalized-on... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Small for gestational age, Cervical spinal canal stenosis, Seizure, Generalized-on... |
ORPHA:363958 |
| Neurofibromatosis Type 1 |
|
Seizure, Pheochromocytoma, Paresthesia, Plexiform neurofibroma, Astrocytoma, Optic nerve glioma, ... |
ORPHA:636 |
| Tsh-Secreting Pituitary Adenoma |
|
Periodic hypokalemic paresis, Seizure, Oculomotor nerve palsy, Tremor, Weight loss, Internal opht... |
ORPHA:91347 |
| Refractory Celiac Disease |
|
Weight loss |
ORPHA:398063 |
| Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Scoliosis, Kyphosis, Failure to thrive |
OMIM:617602 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Anterior clefting of vertebral bodies, Short neck, Gait disturbance, Thoracolumbar scoliosis, Sco... |
OMIM:265000 |
| Holt-Oram Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:392 |
| Lateral Meningocele Syndrome |
|
Biconcave vertebral bodies, Short neck, Vertebral fusion, Scoliosis, Kyphosis |
OMIM:130720 |
| Cole-Carpenter Syndrome 2 |
|
Platyspondyly, Kyphosis |
OMIM:616294 |
| Primary Myelofibrosis |
|
Cachexia |
ORPHA:824 |
| Imerslund-Gräsbeck Syndrome |
|
Weight loss, Failure to thrive |
ORPHA:35858 |
| Spondyloperipheral Dysplasia |
|
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates |
OMIM:271700 |
| Mend Syndrome |
|
Failure to thrive, Seizure, Hypertonia, Kyphosis, Sacral dimple |
OMIM:300960 |
| Peroxisome Biogenesis Disorder 1B |
|
Optic atrophy, Leukodystrophy |
OMIM:601539 |
| Distal Triplication 15Q |
|
Large for gestational age, Scoliosis, Kyphosis |
ORPHA:314588 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Platyspondyly, Focal impaired awareness seizure, Biconcave vertebral bodies, Kyphoscoliosis, Seve... |
OMIM:259770 |
| Mend Syndrome |
|
Failure to thrive, Seizure, Limb hypertonia, Kyphosis, Sacral dimple |
ORPHA:401973 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Scoliosis, Kyphosis |
OMIM:619951 |
| Immunodeficiency 23 |
|
Abnormal CNS myelination |
OMIM:615816 |
| Pemphigus Vulgaris |
|
Weight loss |
ORPHA:704 |
| Lymphoid Interstitial Pneumonia |
|
Weight loss, Failure to thrive |
ORPHA:79128 |
| Cowden Syndrome |
|
Failure to thrive, Seizure, Ataxia, Scoliosis, Kyphosis |
ORPHA:201 |
| Aspartylglucosaminuria |
|
Platyspondyly, Spondylolysis, Spasticity, Cerebral atrophy, Seizure, Spondylolisthesis, Beaking o... |
OMIM:208400 |
| Schinzel-Giedion Syndrome |
|
Cerebral cortical atrophy, Spasticity, Seizure, Failure to thrive in infancy, Epileptic spasm, Ep... |
ORPHA:798 |
| Nodular Non-Suppurative Panniculitis |
|
Weight loss |
ORPHA:33577 |
| Combined Oxidative Phosphorylation Deficiency 59 |
|
CNS demyelination |
OMIM:620646 |
| Monosomy 9Q22.3 |
|
Abnormality of the vertebral column, Seizure, Large for gestational age, Short neck, Kyphosis |
ORPHA:77301 |
| Corticosteroid-Sensitive Aseptic Abscess Syndrome |
|
Weight loss |
ORPHA:54251 |
| Metachromatic Leukodystrophy, Late Infantile Form |
|
Optic atrophy, Leukodystrophy |
ORPHA:309256 |
| Hurler-Scheie Syndrome |
|
Scoliosis, Kyphosis |
OMIM:607015 |
| Primary Intestinal Lymphangiectasia |
|
Weight loss |
ORPHA:90362 |
| Osteootohepatoenteric Syndrome |
|
Weight loss, Failure to thrive |
OMIM:619377 |
| Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Scoliosis, Kyphosis |
OMIM:166220 |
| Zttk Syndrome |
|
Optic atrophy, Spasticity, Failure to thrive, Seizure, Hemivertebrae, Status epilepticus, Scolios... |
OMIM:617140 |
| 17Q11 Microdeletion Syndrome |
|
Glioma, Abnormality of the vertebral column, Seizure, Beaking of vertebral bodies T12-L3, Abnorma... |
ORPHA:97685 |
| Osteogenesis Imperfecta |
|
Cervical kyphosis, Small for gestational age, Abnormal form of the vertebral bodies, Somatic sens... |
ORPHA:666 |
| Drug Reaction With Eosinophilia And Systemic Symptoms |
|
Weight loss |
ORPHA:139402 |
| Metachromatic Leukodystrophy, Juvenile Form |
|
Optic atrophy, Leukodystrophy |
ORPHA:309263 |
| Budd-Chiari Syndrome |
|
Weight loss |
ORPHA:131 |
| Norrie Disease |
|
Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Seizure, Cachexia, Clonus, Hypertoni... |
ORPHA:649 |
| Vipoma |
|
Respiratory insufficiency due to muscle weakness, Weight loss, Ganglioneuroma, Generalized muscle... |
ORPHA:97282 |
| Addison Disease |
|
Muscle weakness, Weight loss, Failure to thrive, Seizure |
ORPHA:85138 |
| Q Fever |
|
Weight loss, Muscle weakness |
ORPHA:781 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2215 |
| Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Leukodystrophy |
ORPHA:370997 |
| Juvenile Dermatomyositis |
|
Weight loss, Muscle weakness |
ORPHA:93672 |
| Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Thoracolumbar scoliosis, Hyperlord... |
OMIM:618019 |
| Gallbladder Neuroendocrine Tumor |
|
Weight loss, Neuroendocrine neoplasm |
ORPHA:100086 |
| Mucolipidosis Iii Alpha/Beta |
|
Kyphosis, Scoliosis, Spondylolisthesis |
OMIM:252600 |
| Multiple Endocrine Neoplasia Type 1 |
|
Pulmonary carcinoid tumor, Cranial nerve compression, Insulinoma, Pheochromocytoma, Ependymoma, G... |
ORPHA:652 |
| Osteopetrosis, Autosomal Recessive 3 |
|
Optic nerve compression, Periodic hypokalemic paresis |
OMIM:259730 |
| Genitopalatocardiac Syndrome |
|
Scoliosis, Kyphosis |
ORPHA:2075 |
| Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Kyphosis, Truncal obesity |
OMIM:610489 |
| Familial Osteodysplasia, Anderson Type |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Seizure |
ORPHA:2769 |
| Nijmegen Breakage Syndrome |
|
Short neck, Cachexia, Glioma, Muscle weakness |
ORPHA:647 |
| Hereditary Amyloidosis With Primary Renal Involvement |
|
Weight loss |
ORPHA:85450 |
| 1P36 Deletion Syndrome |
|
Optic atrophy, Cerebral cortical atrophy, Failure to thrive, Seizure, Spinal canal stenosis, Obes... |
ORPHA:1606 |
| Seckel Syndrome |
|
Cachexia, Scoliosis |
ORPHA:808 |
| Klatskin Tumor |
|
Weight loss |
ORPHA:99978 |
| Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral interpedicular distance, K... |
OMIM:143095 |
| Polycythemia Vera |
|
Paresthesia, Weight loss |
ORPHA:729 |
| Campomelic Dysplasia |
|
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae |
ORPHA:140 |
| Adult-Onset Still Disease |
|
Weight loss |
ORPHA:829 |
| Pseudoxanthoma Elasticum, Forme Fruste |
|
Scoliosis, Kyphosis |
OMIM:177850 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Optic neuropathy, Leukodystrophy |
ORPHA:2609 |
| Immunodeficiency 31C |
|
Weight loss, Muscle weakness |
OMIM:614162 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Impaired temperature sensation, Thoracic scoliosis, Kyphoscoliosis, Kyphosis, Sacral dimple |
ORPHA:536532 |
| Noonan Syndrome 14 |
|
Short neck, Kyphosis |
OMIM:619745 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Weight loss |
ORPHA:747 |
| Familial Pancreatic Carcinoma |
|
Weight loss, Back pain |
ORPHA:1333 |
| Al Amyloidosis |
|
Weight loss |
ORPHA:85443 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Pulmonary carcinoid tumor, Neuroendocrine neoplasm, Pheochromocytoma, Atypical pulmonary carcinoi... |
ORPHA:99889 |
| X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
|
Weight loss, Failure to thrive |
ORPHA:1018 |
| Insulin-Resistance Syndrome Type B |
|
Increased body weight, Abnormality of body weight, Weight loss, Decreased body weight |
ORPHA:2298 |
| Igg4-Related Retroperitoneal Fibrosis |
|
Low back pain, Weight loss |
ORPHA:49041 |
| Shprintzen Omphalocele Syndrome |
|
Lumbar hyperlordosis, Scoliosis, Kyphosis, Decreased body weight |
OMIM:182210 |
| Amoebiasis Due To Entamoeba Histolytica |
|
Weight loss |
ORPHA:67 |
| Stickler Syndrome |
|
Platyspondyly, Abnormal form of the vertebral bodies, Spinal canal stenosis, Slender build, Spond... |
ORPHA:828 |
| Osteogenesis Imperfecta, Type Viii |
|
Platyspondyly, Vertebral compression fracture, Scoliosis, Kyphosis |
OMIM:610915 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Weight loss |
ORPHA:98849 |
| Mosaic Trisomy 20 |
|
Spinal canal stenosis, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis, Fuse... |
ORPHA:1724 |
| Granulomatosis With Polyangiitis |
|
Hemiplegia, Weight loss, Seizure |
ORPHA:900 |
| Systemic Lupus Erythematosus |
|
Chorea, Weight loss, Seizure |
ORPHA:536 |
| Metachromatic Leukodystrophy, Adult Form |
|
Optic atrophy, Leukodystrophy |
ORPHA:309271 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Leukodystrophy |
OMIM:616538 |
| Bickerstaff Brainstem Encephalitis |
|
Facial paralysis, Abnormal cranial nerve morphology, Acute demyelinating polyneuropathy, CNS demy... |
ORPHA:79138 |
| Niemann-Pick Disease Type C |
|
Cerebral atrophy, Leukodystrophy, Cerebellar vermis atrophy, Frontal cortical atrophy, Demyelinat... |
ORPHA:646 |
| Brucellosis |
|
Failure to thrive, Sacroiliac arthritis, Chorea, Weight loss, Small for gestational age |
ORPHA:1304 |
| Spondyloarthropathy, Susceptibility To, 1 |
|
Sacroiliac arthritis, Kyphosis, Back pain |
OMIM:106300 |
| Smith-Lemli-Opitz Syndrome |
|
Optic atrophy, Abnormal form of the vertebral bodies, Seizure, Short neck, Hypertonia, Scoliosis,... |
ORPHA:818 |
| Lysosomal Acid Lipase Deficiency |
|
Cachexia, Weight loss, Failure to thrive |
ORPHA:275761 |
| Trisomy 18 |
|
Cachexia, Hypertonia |
ORPHA:3380 |
| Tyrosinemia, Type I |
|
Periodic paralysis, Failure to thrive |
OMIM:276700 |
| Rat-Bite Fever |
|
Weight loss, Back pain |
ORPHA:31205 |
| Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis |
|
Abnormality of the cervical spine, Weight loss |
ORPHA:85408 |
| Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Scoliosis, Kyphosis, Hypertonia |
OMIM:619194 |
| Microsporidiosis |
|
Cachexia, Weight loss, Seizure |
ORPHA:2552 |
| Alkaptonuria |
|
Low back pain, Vertebral fusion, Kyphosis, Intervertebral disk degeneration |
OMIM:203500 |
| Hajdu-Cheney Syndrome |
|
Failure to thrive, Hypoplastic 5th lumbar vertebrae, Biconcave vertebral bodies, Short neck, Scol... |
ORPHA:955 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Scoliosis, Kyphosis, Hemivertebrae |
OMIM:618223 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Scoliosis, Kyphosis |
OMIM:619557 |
| Acute Disseminated Encephalomyelitis |
|
CNS demyelination |
ORPHA:83597 |
| Williams Syndrome |
|
Cerebral cortical atrophy, Spasticity, Involuntary movements, Abnormal form of the vertebral bodi... |
ORPHA:904 |
| Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities |
|
Cerebral cortical atrophy, CNS demyelination |
OMIM:620024 |
| Hemophagocytic Lymphohistiocytosis, Familial, 2 |
|
CNS demyelination |
OMIM:603553 |
| Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Scoliosis, Kyphosis, Sacral dimple |
OMIM:616894 |
| Caroli Disease |
|
Weight loss |
ORPHA:53035 |
| Parathyroid Carcinoma |
|
Weight loss, Muscle weakness |
ORPHA:143 |
| Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Optic atrophy, Leukodystrophy |
OMIM:612199 |
| Anemia, Congenital Dyserythropoietic, Type Iv |
|
Weight loss |
OMIM:613673 |
| Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Kyphosis |
OMIM:616914 |
| Glycogen Storage Disease Ii |
|
Abnormal CNS myelination |
OMIM:232300 |
| Granulomatosis With Polyangiitis |
|
Weight loss |
OMIM:608710 |
| Igg4-Related Dacryoadenitis And Sialadenitis |
|
Optic nerve compression, Weight loss, Generalized muscle weakness |
ORPHA:79078 |
| Intellectual Developmental Disorder, X-Linked 112 |
|
Scoliosis, Kyphosis, Kyphoscoliosis |
OMIM:301111 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Optic neuropathy, Leukodystrophy, Cerebellar atrophy |
OMIM:252010 |
| Zollinger-Ellison Syndrome |
|
Glucagonoma, Weight loss, Neuroendocrine neoplasm |
ORPHA:913 |
| Castleman Disease |
|
Weight loss |
ORPHA:160 |
| Ileal Neuroendocrine Tumor |
|
Small intestine carcinoid, Weight loss |
ORPHA:100078 |
| Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Failure to thrive in infancy, Cachexia |
ORPHA:37042 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Platyspondyly, Failure to thrive, Seizure, Clonus, Scoliosis, Kyphosis |
ORPHA:534 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal vertebral morphology, Platyspondyly, Cerebral cortical atrophy, Abnormality of the verte... |
ORPHA:2273 |
| Marden-Walker Syndrome |
|
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Failure to thrive |
ORPHA:2461 |
| Hermansky-Pudlak Syndrome |
|
Weight loss |
ORPHA:79430 |
| Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome |
|
Leukodystrophy |
ORPHA:79124 |
| Pancreatoblastoma |
|
Weight loss |
ORPHA:677 |
| Kikuchi-Fujimoto Disease |
|
Weight loss, Ataxia |
ORPHA:50918 |
| Stevens-Johnson Syndrome |
|
Weight loss |
ORPHA:36426 |
| Fanconi Anemia |
|
Weight loss, Scoliosis |
ORPHA:84 |
| Cystinosis, Nephropathic |
|
Failure to thrive in infancy, Weight loss, Failure to thrive, Cerebral atrophy |
OMIM:219800 |
| Toxic Epidermal Necrolysis |
|
Weight loss |
ORPHA:537 |
| Frank-Ter Haar Syndrome |
|
Prominent coccyx, Kyphosis, Anterior concavity of thoracic vertebrae, Kyphoscoliosis |
OMIM:249420 |
| Renal Nutcracker Syndrome |
|
Weight loss |
ORPHA:71273 |
| Alstrom Syndrome |
|
Obesity, Scoliosis, Kyphosis, Truncal obesity |
OMIM:203800 |
| Grfoma |
|
Intestinal carcinoid, Pheochromocytoma, Weight loss |
ORPHA:97261 |
| Autosomal Recessive Robinow Syndrome |
|
Vertebral segmentation defect, Short neck, Scoliosis, Kyphosis, Sacral dimple |
ORPHA:1507 |
| Ppoma |
|
Intestinal carcinoid, Weight loss |
ORPHA:97278 |
| Pulmonary Alveolar Microlithiasis |
|
Weight loss, Fatigable weakness |
ORPHA:60025 |
| Cdags Syndrome |
|
Kyphosis |
OMIM:603116 |
| Dermatomyositis |
|
Weight loss, Limb-girdle muscle weakness, Respiratory insufficiency due to muscle weakness, Proxi... |
ORPHA:221 |
| Cardiofacioneurodevelopmental Syndrome |
|
Kyphosis |
OMIM:619123 |
| Pyomyositis |
|
Weight loss |
ORPHA:764 |
| Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
|
Scoliosis, Kyphosis |
OMIM:619718 |
| Aicardi-Goutières Syndrome |
|
Degeneration of the striatum, Brain atrophy, Leukodystrophy, Demyelinating peripheral neuropathy |
ORPHA:51 |
| Sotos Syndrome |
|
Abnormal vertebral morphology, Generalized myoclonic seizure, Focal impaired awareness seizure, C... |
ORPHA:821 |
| Primary Fanconi Renotubular Syndrome |
|
Weight loss, Muscle weakness |
ORPHA:3337 |
| Marfan Syndrome |
|
Slender build, Spondylolisthesis, Cachexia, Scoliosis, Kyphosis |
ORPHA:558 |
| Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Kyphosis |
OMIM:609944 |
| Wolf-Hirschhorn Syndrome |
|
Small for gestational age, Abnormal form of the vertebral bodies, Seizure, Failure to thrive, Ver... |
OMIM:194190 |
| Tropical Pancreatitis |
|
Weight loss |
ORPHA:103918 |
| Pancreatic Triacylglycerol Lipase Deficiency |
|
Weight loss |
ORPHA:309031 |
| Coffin-Lowry Syndrome |
|
Seizure, Decreased body weight, Lumbar kyphosis, Scoliosis, Kyphosis |
OMIM:303600 |
| Nocardiosis |
|
Weight loss, Seizure |
ORPHA:31204 |
| Primrose Syndrome |
|
Kyphosis, Seizure, Neurodegeneration, Truncal obesity, Ataxia, Posterior scalloping of vertebral ... |
OMIM:259050 |
| Lowe Oculocerebrorenal Syndrome |
|
Platyspondyly, Failure to thrive, Seizure, Scoliosis, Kyphosis |
OMIM:309000 |
| Occipital Horn Syndrome |
|
Platyspondyly, Kyphosis, Seizure |
OMIM:304150 |
| Lenz-Majewski Hyperostotic Dwarfism |
|
Facial palsy, Scoliosis, Kyphosis |
ORPHA:2658 |
| Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... |
OMIM:300106 |
| Rabson-Mendenhall Syndrome |
|
CNS demyelination |
ORPHA:769 |
| Cleidocranial Dysplasia 1 |
|
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis |
OMIM:119600 |
| Coffin-Siris Syndrome 1 |
|
Seizure, Gait ataxia, Spina bifida occulta, Scoliosis, Kyphosis, Sacral dimple |
OMIM:135900 |
| Primary Sclerosing Cholangitis |
|
Weight loss |
ORPHA:171 |
| Malt Lymphoma |
|
Weight loss |
ORPHA:52417 |
| Reactive Arthritis |
|
Weight loss |
ORPHA:29207 |
| Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities |
|
Leukodystrophy |
OMIM:619575 |
| Hutchinson-Gilford Progeria Syndrome |
|
Severe failure to thrive, Shuffling gait, Weight loss |
ORPHA:740 |
| Poland Syndrome |
|
Vertebral segmentation defect, Short neck, Hemivertebrae, Spina bifida occulta, Scoliosis, Kyphosis |
ORPHA:2911 |
| Lymphedema-Distichiasis Syndrome |
|
Kyphosis |
OMIM:153400 |
| Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Lumbar hyperlordosis, Kyphosis |
ORPHA:2232 |
| Somatostatinoma |
|
Weight loss |
ORPHA:97283 |
| Sarcoidosis, Susceptibility To, 1 |
|
Weight loss, Optic neuropathy |
OMIM:181000 |
| Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2 |
|
Weight loss |
OMIM:301074 |
| Acromegaly |
|
Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy |
ORPHA:963 |
| Somatomammotropinoma |
|
Paresthesia, Spinal canal stenosis, Kyphosis, Cerebral palsy |
ORPHA:314769 |
| Glucagonoma |
|
Weight loss |
ORPHA:97280 |
| Postinfectious Vasculitis |
|
Weight loss |
ORPHA:48435 |
| Chronic Graft Versus Host Disease |
|
Weight loss, Muscle weakness |
ORPHA:99921 |
| Sarcoidosis |
|
Facial palsy, Weight loss, Proximal muscle weakness |
ORPHA:797 |
| Igg4-Related Kidney Disease |
|
Weight loss |
ORPHA:449395 |
| Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Kyphosis |
ORPHA:85199 |
| Juvenile Polyposis Of Infancy |
|
Cachexia |
ORPHA:79076 |
| Occipital Horn Syndrome |
|
Platyspondyly, Scoliosis, Kyphosis |
ORPHA:198 |
| Proteus Syndrome |
|
Abnormal form of the vertebral bodies, Seizure, Cachexia, Scoliosis, Kyphosis |
ORPHA:744 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis |
ORPHA:99228 |
| Monosomy X |
|
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis |
ORPHA:99226 |
| Turner Syndrome |
|
Failure to thrive in infancy, Obesity, Short neck, Scoliosis, Kyphosis |
ORPHA:881 |
| Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency |
|
Weight loss, Failure to thrive |
ORPHA:90794 |
| Cerebrocostomandibular Syndrome |
|
Kyphosis |
ORPHA:1393 |
| Acute Transverse Myelitis |
|
CNS demyelination |
ORPHA:139417 |
| Tubulointerstitial Nephritis And Uveitis Syndrome |
|
Papilledema, Weight loss |
ORPHA:91500 |
| Immunodeficiency 82 With Systemic Inflammation |
|
Weight loss |
OMIM:619381 |
| Wrinkly Skin Syndrome |
|
Scoliosis, Kyphosis, Failure to thrive |
OMIM:278250 |
| Branchiooculofacial Syndrome |
|
Seizure, Short neck, Hyperlordosis, Facial palsy, Kyphosis |
OMIM:113620 |
| Viss Syndrome |
|
Scoliosis, Butterfly vertebrae, Kyphosis, Failure to thrive |
OMIM:619472 |
| Alström Syndrome |
|
Typical absence seizure, Somatic sensory dysfunction, Incoordination, Obesity, Thoracic scoliosis... |
ORPHA:64 |
| Goodpasture Syndrome |
|
Weight loss |
OMIM:233450 |
| Yunis-Varon Syndrome |
|
Kyphosis, Failure to thrive in infancy, Anterior concavity of thoracic vertebrae, Severe failure ... |
OMIM:216340 |
| Tropical Endomyocardial Fibrosis |
|
Cachexia |
ORPHA:75565 |
