| Guillain-Barre Syndrome, Familial |
|
Acute demyelinating polyneuropathy |
OMIM:139393 |
| Neuropathy, Hereditary Sensory, X-Linked |
|
Decreased number of peripheral myelinated nerve fibers |
OMIM:310470 |
| Autosomal Recessive Spastic Paraplegia Type 71 |
|
Progressive spastic paraplegia, Hand tremor, Babinski sign, Lower limb spasticity, Spastic gait, ... |
ORPHA:401840 |
| Optic Atrophy 2 |
|
Babinski sign, Optic atrophy, Dysdiadochokinesis, Tremor |
OMIM:311050 |
| Pelizaeus-Merzbacher disease |
|
Abnormal CNS myelination, Leukodystrophy |
DECIPHER:38 |
| Intellectual Developmental Disorder, Autosomal Recessive 4 |
|
Delayed myelination |
OMIM:611107 |
| Tremor, Hereditary Essential, 6 |
|
Leukodystrophy, Postural tremor, Head tremor, Kinetic tremor, Vocal tremor |
OMIM:618866 |
| Leukoencephalopathy, Brain Calcifications, And Cysts |
|
Spasticity, Leukodystrophy, Hemiplegia, Tremor, Abnormality of extrapyramidal motor function, Abn... |
OMIM:614561 |
| Episodic Ataxia, Type 1 |
|
Episodic ataxia, Incoordination, Tremor, Babinski sign, Spastic gait, Slurred speech |
OMIM:160120 |
| Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3 |
|
Cerebellar ataxia associated with quadrupedal gait, Slurred speech, Tremor, Ataxia |
OMIM:613227 |
| Primary Orthostatic Tremor |
|
Tremor, Abnormality of extrapyramidal motor function |
ORPHA:238606 |
| Parkinson Disease 24, Autosomal Dominant, Susceptibility To |
|
Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Rigidity |
OMIM:619491 |
| Primary Dystonia, Dyt27 Type |
|
Upper limb postural tremor, Laryngeal dystonia, Limb dystonia, Action tremor, Axial dystonia, Oro... |
ORPHA:464440 |
| Autosomal Recessive Spastic Paraplegia Type 57 |
|
Spastic paraplegia, Spasticity, Optic atrophy, Abnormality of peripheral nerve conduction, Babins... |
ORPHA:431329 |
| Dystonia 27 |
|
Laryngeal dystonia, Postural tremor, Limb dystonia, Action tremor, Torticollis, Writer's cramp, O... |
OMIM:616411 |
| Spinocerebellar Ataxia Type 15/16 |
|
Upper limb postural tremor, Head tremor, Gait ataxia, Action tremor, Ataxia, Tremor by anatomical... |
ORPHA:98769 |
| Autosomal Recessive Spastic Paraplegia Type 67 |
|
Progressive spastic paraplegia, Babinski sign, Lower limb spasticity, Limb tremor, Spastic gait, ... |
ORPHA:401820 |
| Autosomal Recessive Spastic Paraplegia Type 70 |
|
Abnormal myelination, Lower limb spasticity, Progressive spastic paraplegia, Hand tremor |
ORPHA:401835 |
| Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Respiratory insufficiency |
OMIM:611369 |
| Episodic Ataxia With Slurred Speech |
|
Gait ataxia, Tremor, Slurred speech |
ORPHA:401953 |
| Tremor, Hereditary Essential, 1 |
|
Postural tremor, Action tremor, Hand tremor |
OMIM:190300 |
| Autosomal Recessive Spastic Paraplegia Type 69 |
|
Spastic dysarthria, Progressive spastic paraplegia, Hand tremor, Lower limb spasticity, Abnormal ... |
ORPHA:401830 |
| Dystonia 3, Torsion, X-Linked |
|
Chorea, Myoclonus, Tremor, Parkinsonism with favorable response to dopaminergic medication, Torsi... |
OMIM:314250 |
| Impaired Intellectual Development With Spastic Paraplegia And Palmoplantar Hyperkeratosis |
|
Spastic paraplegia, Tremor |
OMIM:309560 |
| Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Death in infancy, Respiratory failure, Cerebral dysmyelination, Respiratory insufficiency |
OMIM:611722 |
| Primary Dystonia, Dyt13 Type |
|
Involuntary movements, Generalized dystonia, Torsion dystonia, Postural tremor, Limb dystonia, Ac... |
ORPHA:98807 |
| Spinocerebellar Ataxia 20 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Abnormal pyramidal sign, Palatal tremor |
OMIM:608687 |
| Optic Atrophy 3, Autosomal Dominant |
|
Optic atrophy, Optic disc pallor, Tremor, Abnormality of extrapyramidal motor function |
OMIM:165300 |
| Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
| Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
| Charcot-Marie-Tooth Disease, Demyelinating, Type 1F |
|
Decreased motor nerve conduction velocity, Tremor, Decreased number of peripheral myelinated nerv... |
OMIM:607734 |
| Developmental And Epileptic Encephalopathy 71 |
|
CNS demyelination, Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
| Myoclonus, Familial, 1 |
|
Myoclonus, Action tremor, Ataxia, Action myoclonus, Frequent falls |
OMIM:614937 |
| Segawa Syndrome, Autosomal Recessive |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Limb dyst... |
OMIM:605407 |
| Spinocerebellar Ataxia 43 |
|
Limb ataxia, Gait ataxia, Tremor, Rigidity, Ataxia |
OMIM:617018 |
| Intellectual Developmental Disorder, Autosomal Recessive 6 |
|
Involuntary movements, Postural tremor, Myoclonus, Torticollis, Kinetic tremor |
OMIM:611092 |
| Huntington Disease-Like Syndrome Due To C9Orf72 Expansions |
|
Chorea, Myoclonus, Tremor, Rigidity, Parkinsonism, Ataxia, Upper motor neuron dysfunction, Dystonia |
ORPHA:401901 |
| Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation |
|
Babinski sign, Spasticity, Tremor, Ataxia |
OMIM:611105 |
| Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay |
|
Tremor, Ataxia |
OMIM:213000 |
| Tremor, Hereditary Essential, 5 |
|
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor |
OMIM:616736 |
| Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:253300 |
| Slowed Nerve Conduction Velocity, Autosomal Dominant |
|
Peripheral demyelination, Onion bulb formation |
OMIM:608236 |
| Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Death in adolescence, Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:300717 |
| Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements |
|
Chorea, Tremor, Hyperkinetic movements, Torticollis, Ataxia, Dystonia |
OMIM:618425 |
| Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... |
OMIM:260300 |
| Roussy-Levy Hereditary Areflexic Dystasia |
|
Upper limb postural tremor, Decreased motor nerve conduction velocity, Gait ataxia, Action tremor... |
OMIM:180800 |
| Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
| Parkinsonism With Spasticity, X-Linked |
|
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia |
OMIM:300911 |
| Sandhoff Disease, Adult Form |
|
Spasticity, Fasciculations, Gait ataxia, Tremor, Focal dystonia, Dystonia |
ORPHA:309169 |
| Spinocerebellar Ataxia Type 20 |
|
Upper limb postural tremor, Laryngeal dystonia, Bradykinesia, Gait ataxia, Abnormal pyramidal sig... |
ORPHA:101110 |
| Nemaline Myopathy 8 |
|
Facial palsy, Respiratory failure, Death in infancy |
OMIM:615348 |
| Spinocerebellar Ataxia 40 |
|
Spastic paraparesis, Dysdiadochokinesis, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Ataxia, In... |
OMIM:616053 |
| Tremor, Hereditary Essential, 4 |
|
Postural tremor, Action tremor |
OMIM:614782 |
| Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
| Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
| Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Peripheral demyelination, Abnormal pyramidal sign, Abnormal autonomic nervous system physiology, ... |
DECIPHER:59 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Vocal cord paresis, Abnormal motor nerve conduction velocity, Vocal cord paralysis, Tremor |
OMIM:158580 |
| Dystonia 11, Myoclonic |
|
Myoclonus, Writer's cramp, Tremor, Torticollis |
OMIM:159900 |
| Spinocerebellar Ataxia Type 31 |
|
Spasticity, Gait ataxia, Tremor |
ORPHA:217012 |
| Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:616081 |
| Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
| Dyskinesia, Limb And Orofacial, Infantile-Onset |
|
Chorea, Tremor, Hyperkinetic movements, Frequent falls, Hemiballismus |
OMIM:616921 |
| Epilepsy, Familial Adult Myoclonic, 4 |
|
Enhancement of the C-reflex, Myoclonus, Tremor |
OMIM:615127 |
| Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Optic atrophy, Spasticity, Decreased motor nerve conduction velocity, Tremor, Decreased number of... |
OMIM:609260 |
| Lethal Congenital Contracture Syndrome 8 |
|
Facial diplegia, Death in infancy, Neonatal death, Peripheral hypomyelination, Vocal cord paralysis |
OMIM:616287 |
| Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity |
OMIM:610297 |
| Spinocerebellar Ataxia 37 |
|
Frequent falls, Tremor, Ataxia |
OMIM:615945 |
| Epilepsy, Familial Adult Myoclonic, 1 |
|
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Tremor |
OMIM:601068 |
| Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
| Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
| Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Death in infancy, Respiratory insufficiency |
OMIM:613869 |
| Infantile-Onset Generalized Dyskinesia With Orofacial Involvement |
|
Chorea, Frequent falls, Hemiballismus, Tremor |
ORPHA:494526 |
| Dystonia, Dopa-Responsive |
|
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... |
OMIM:128230 |
| Spinocerebellar Ataxia, Autosomal Recessive 4 |
|
Spasticity, Fasciculations, Myoclonus, Gait ataxia, Tremor, Babinski sign, Abnormal pyramidal sig... |
OMIM:607317 |
| Atypical Pantothenate Kinase-Associated Neurodegeneration |
|
Optic atrophy, Spasticity, Chorea, Limb dystonia, Upper motor neuron dysfunction, Tremor, Rigidit... |
ORPHA:216873 |
| Dyskinesia With Orofacial Involvement, Autosomal Recessive |
|
Dystonia, Myoclonus, Tremor, Frequent falls |
OMIM:619647 |
| Leukodystrophy, Hypomyelinating, 11 |
|
Spasticity, CNS hypomyelination, Leukodystrophy, Myoclonus, Tremor, Ataxia |
OMIM:616494 |
| Parkinsonism With Polyneuropathy |
|
Decreased motor nerve conduction velocity, Resting tremor, Decreased amplitude of sensory action ... |
OMIM:619279 |
| Epilepsy, Progressive Myoclonic, 1B |
|
Myoclonus, Tremor, Dysmetria, Babinski sign, Ataxia |
OMIM:612437 |
| Spastic Paraparesis And Deafness |
|
Spastic paraparesis, Tremor |
OMIM:312910 |
| Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia |
|
Dystonia, Myoclonus, Death in childhood, Tremor |
OMIM:619651 |
| Epilepsy, Familial Adult Myoclonic, 3 |
|
Enhancement of the C-reflex, Giant somatosensory evoked potentials, Myoclonus, Tremor |
OMIM:613608 |
| Spinocerebellar Ataxia 23 |
|
Limb ataxia, Gait ataxia, Tremor, Dysmetria, Babinski sign, CNS demyelination |
OMIM:610245 |
| Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus |
|
Kinetic tremor, Tremor |
OMIM:611808 |
| Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Abnormal peripheral action potential amplitude, Respiratory failure, Abnormal seventh cranial phy... |
ORPHA:90117 |
| Hereditary Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
| Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... |
OMIM:607688 |
| Null Syndrome |
|
Optic atrophy, CNS hypomyelination, Progressive spastic paraplegia, Decreased nerve conduction ve... |
ORPHA:280234 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Neonatal death, Facial diplegia, Respiratory failure, Respiratory insufficiency due to muscle wea... |
OMIM:611890 |
| Spinocerebellar Ataxia 38 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Ataxia |
OMIM:615957 |
| Leukodystrophy, Hypomyelinating, 6 |
|
Optic atrophy, Spasticity, Leukodystrophy, Tremor, Rigidity, Cerebral hypomyelination, Oculomotor... |
OMIM:612438 |
| Leukodystrophy, Hypomyelinating, 19, Transient Infantile |
|
Optic atrophy, Leukodystrophy, Dysmetria, Babinski sign, Head titubation, Delayed CNS myelination... |
OMIM:618688 |
| Spastic Ataxia 2, Autosomal Recessive |
|
Spasticity, Fasciculations, Gait ataxia, Dysmetria, Tremor, Ankle clonus, Babinski sign, Spastic ... |
OMIM:611302 |
| Spinal Muscular Atrophy, Late-Onset, Finkel Type |
|
Tremor, Fasciculations |
OMIM:182980 |
| Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Neonatal respiratory distress, Respiratory failure |
OMIM:619057 |
| Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Tremor, Fasciculations |
ORPHA:65684 |
| Spinocerebellar Ataxia Type 38 |
|
Gait ataxia, Tremor |
ORPHA:423296 |
| Hyperphenylalaninemia, Bh4-Deficient, D |
|
Hypertonia, Tremor |
OMIM:264070 |
| Adult Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal... |
ORPHA:79262 |
| Intellectual Developmental Disorder, X-Linked 104 |
|
Optic atrophy, Spasticity, Tremor, Delayed CNS myelination, Ataxia |
OMIM:300983 |
| Stxbp1-Related Encephalopathy |
|
Spasticity, Tremor, Ataxia, Dystonia, Delayed myelination, Spastic tetraplegia |
ORPHA:599373 |
| Migraine, Familial Hemiplegic, 1 |
|
Ataxia, Hemiplegia, Tremor, Hemiparesis |
OMIM:141500 |
| Congenital Myopathy 10A, Severe Variant |
|
Respiratory insufficiency, Abnormal motor nerve conduction velocity, Respiratory failure, Facial ... |
OMIM:614399 |
| Myoclonic-Atonic Epilepsy |
|
Eyelid myoclonus, Delayed CNS myelination, Tremor, Ataxia |
OMIM:616421 |
| Dystonia 13, Torsion, Autosomal Dominant |
|
Blepharospasm, Limb dystonia, Tremor, Torticollis, Writer's cramp, Torsion dystonia, Oromandibula... |
OMIM:607671 |
| Primary Dystonia, Dyt2 Type |
|
Blepharospasm, Involuntary movements, Generalized dystonia, Limb dystonia, Tremor, Torticollis, T... |
ORPHA:99657 |
| Spinocerebellar Ataxia Type 12 |
|
Postural tremor, Limb dysmetria, Action tremor, Intention tremor, Parkinsonism, Abnormal pyramida... |
ORPHA:98762 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Spastic paraplegia, Limb ataxia, Tremor, Babinski sign, Spastic ataxia, Lower limb spasticity, Hy... |
ORPHA:251282 |
| Epilepsy, Progressive Myoclonic 7 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616187 |
| Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
| Spinocerebellar Ataxia 12 |
|
Head tremor, Action tremor, Dysmetria, Axial dystonia, Parkinsonism, Dysdiadochokinesis, Progress... |
OMIM:604326 |
| Encephalopathy, Progressive, With Or Without Lipodystrophy |
|
Spasticity, Tetraparesis, Myoclonus, Tremor, Abnormal pyramidal sign, Ataxia, Dystonia |
OMIM:615924 |
| Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Postural tremor, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism with favorabl... |
ORPHA:314632 |
| Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome |
|
Optic atrophy, Dysdiadochokinesis, Gait ataxia, Dysmetria, Babinski sign, Demyelinating periphera... |
ORPHA:504476 |
| Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Postural tremor, Death in early a... |
OMIM:607694 |
| Dystonia 28, Childhood-Onset |
|
Spasticity, Laryngeal dystonia, Myoclonus, Retrocollis, Tremor, Craniofacial dystonia, Torticolli... |
OMIM:617284 |
| Spinocerebellar Ataxia 7 |
|
Optic atrophy, Spasticity, Chorea, Dysmetria, Tremor, Abnormality of extrapyramidal motor functio... |
OMIM:164500 |
| Spinocerebellar Ataxia, Autosomal Recessive 16 |
|
Spasticity, Limb ataxia, Tremor, Ankle clonus, Babinski sign, Truncal ataxia |
OMIM:615768 |
| Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Respiratory failure, Death in childhood, Neonatal death |
OMIM:619334 |
| Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... |
ORPHA:454887 |
| Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:266 |
| Autosomal Spastic Paraplegia Type 58 |
|
Spasticity, Frequent falls, Fasciculations, Chorea, Peripheral demyelination, Gait ataxia, Dysmet... |
ORPHA:397946 |
| Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Spasticity, Bradykinesia, Tremor, Ankle clonus, Babinski sign, Parkinsonism, Scissor gait, Oroman... |
ORPHA:521406 |
| Caribbean Parkinsonism |
|
Autonomic bladder dysfunction, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ata... |
ORPHA:97355 |
| Striatal Degeneration, Autosomal Dominant 1 |
|
Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech |
OMIM:609161 |
| Subacute Inflammatory Demyelinating Polyneuropathy |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Abno... |
ORPHA:206594 |
| Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy |
OMIM:225753 |
| Spinocerebellar Ataxia 18 |
|
Tremor, Dysmetria, Babinski sign, Progressive gait ataxia, Dysdiadochokinesis |
OMIM:607458 |
| Spinocerebellar Ataxia 50 |
|
Froment sign, Chorea, Head tremor, Myoclonus, Action tremor, Postural tremor, Apraxia, Ataxia |
OMIM:620158 |
| Amyotrophic Lateral Sclerosis 28 |
|
Respiratory failure |
OMIM:620452 |
| Neurodegeneration With Brain Iron Accumulation 7 |
|
Leukodystrophy, Tremor, Dysmetria, Lower limb spasticity, Ataxia, Dystonia |
OMIM:617916 |
| Perching Syndrome |
|
Cyanosis |
OMIM:617055 |
| Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... |
OMIM:606324 |
| Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure, Death in infancy |
OMIM:618240 |
| Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Bradykinesia, Rigidity, Parkinsonism, Dystonia |
OMIM:605909 |
| Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Tremor, Rigi... |
ORPHA:240103 |
| Hepatic Veno-Occlusive Disease |
|
Jaundice, Respiratory failure |
ORPHA:890 |
| Basal Ganglia Calcification, Idiopathic, 1 |
|
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Bradyk... |
OMIM:213600 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
CNS hypomyelination, Decreased motor nerve conduction velocity, Respiratory insufficiency, Facial... |
OMIM:618186 |
| Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Respiratory insufficiency |
OMIM:610127 |
| Immunodeficiency 95 |
|
Respiratory failure |
OMIM:619773 |
| Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Respiratory failure |
OMIM:604801 |
| Parkinsonism-Dystonia 1, Infantile-Onset |
|
Oculogyric crisis, Chorea, Limb dystonia, Cogwheel rigidity, Tremor, Rigidity, Hyperkinetic movem... |
OMIM:613135 |
| Phosphoserine Aminotransferase Deficiency |
|
Cyanotic episode, Death in infancy |
OMIM:610992 |
| Dystonia 24 |
|
Blepharospasm, Arm dystonia, Head tremor, Limb tremor, Torticollis, Oromandibular dystonia |
OMIM:615034 |
| Neuromyelitis Optica Spectrum Disorder |
|
Peripheral demyelination, Respiratory failure |
ORPHA:71211 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autono... |
ORPHA:329284 |
| Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement |
|
Blepharospasm, Upper limb postural tremor, Hand tremor, Limb dystonia, Myoclonus, Torticollis, Or... |
ORPHA:420485 |
| Spinocerebellar Ataxia Type 37 |
|
Cogwheel rigidity, Limb dysmetria, Myoclonus, Tremor, Truncal ataxia, Dysdiadochokinesis |
ORPHA:363710 |
| Congenital Myopathy 14 |
|
Respiratory failure, Death in infancy, Respiratory insufficiency due to muscle weakness |
OMIM:618414 |
| Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
| Parkinson Disease 17 |
|
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia |
OMIM:614203 |
| Cataract-Ataxia-Deafness Syndrome |
|
Decreased nerve conduction velocity, Hypertonia, Tremor, Ataxia |
ORPHA:1368 |
| Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory failure, Leukodystrophy, Respiratory insufficiency |
OMIM:615330 |
| Leigh Syndrome, Nuclear |
|
Optic atrophy, CNS demyelination, Respiratory failure, Respiratory insufficiency |
OMIM:256000 |
| Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3 |
|
Demyelinating sensory neuropathy, Gait ataxia, Tremor, Dysmetria, Ataxia |
OMIM:618387 |
| Seizures, Benign Familial Infantile, 3 |
|
Cyanosis |
OMIM:607745 |
| Dystonia 12 |
|
Bradykinesia, Tremor, Parkinsonism, Torticollis, Dystonia |
OMIM:128235 |
| Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, N... |
OMIM:245400 |
| Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Respiratory failure, Diffuse demyelination of the cerebral white m... |
ORPHA:168486 |
| Epilepsy, Early-Onset, 5, With Or Without Developmental Delay |
|
Myoclonus, Tremor |
OMIM:615400 |
| Spastic Paraplegia 6, Autosomal Dominant |
|
Spastic paraplegia, Tremor, Babinski sign, Lower limb spasticity, Clonus, Spastic gait |
OMIM:600363 |
| Spinocerebellar Ataxia Type 14 |
|
Limb ataxia, Gait ataxia, Myoclonus, Tremor, Rigidity, Progressive cerebellar ataxia |
ORPHA:98763 |
| Interstitial Pneumonitis, Desquamative, Familial |
|
Cyanosis, Respiratory failure |
OMIM:263000 |
| Hyperphenylalaninemia, Bh4-Deficient, C |
|
Myoclonus, Tremor, Hypertonia, Dystonia, Choreoathetosis |
OMIM:261630 |
| Seizures, Benign Familial Infantile, 1 |
|
Cyanosis |
OMIM:601764 |
| Congenital Muscular Dystrophy With Intellectual Disability |
|
Facial palsy, Respiratory failure, Respiratory insufficiency |
ORPHA:370968 |
| Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type) |
|
Gait ataxia, Myoclonus, Tremor, Abnormality of extrapyramidal motor function, Babinski sign, Ataxia |
OMIM:615362 |
| Combined Oxidative Phosphorylation Deficiency 11 |
|
CNS hypomyelination, Death in childhood, Death in infancy, Neonatal death, Stillbirth, Delayed my... |
OMIM:614922 |
| Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Respiratory failure |
OMIM:265120 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Incoordination, Tremor, Parkinsonism, Abnormal autonomic nervous system physio... |
OMIM:618049 |
| Cyanosis, Transient Neonatal |
|
Jaundice, Cyanosis |
OMIM:613977 |
| Spinocerebellar Ataxia 48 |
|
Chorea, Gait ataxia, Dysmetria, Tremor, Babinski sign, Parkinsonism, Ataxia, Dystonia |
OMIM:618093 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure |
OMIM:618637 |
| Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
| Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Leukodystrophy, Respiratory insufficiency, Death in infancy, Respiratory failure |
OMIM:614299 |
| Dyskinesia With Orofacial Involvement, Autosomal Dominant |
|
Involuntary movements, Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia, Paroxysmal d... |
OMIM:606703 |
| Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Delayed CNS myelina... |
OMIM:619725 |
| Multiple System Atrophy |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:102 |
| Hereditary Methemoglobinemia |
|
Cerebral hypomyelination, Delayed myelination, Cyanosis |
ORPHA:621 |
| Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Spasticity, Hemiballismus, Myoclonus, Gait ataxia, Tremor, Rigidity, Dystonia, Parkinsonism, Head... |
OMIM:618877 |
| Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure |
ORPHA:1832 |
| Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Hand tremor, Incoordination, Dysmetria, Tremor, Decrea... |
OMIM:302800 |
| Intermediate Nemaline Myopathy |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:171433 |
| Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Ventilator dependence with inability to wean, Respiratory failure, Respiratory insufficiency due ... |
ORPHA:254875 |
| Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Respiratory failure, Death in infancy |
OMIM:616277 |
| Pelizaeus-Merzbacher Disease, Classic Form |
|
Spasticity, Abnormality of somatosensory evoked potentials, Head tremor, Abnormality of extrapyra... |
ORPHA:280219 |
| Vacterl Association With Hydrocephalus |
|
Stillbirth, Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
| Pelizaeus-Merzbacher Disease |
|
Spastic paraplegia, Optic atrophy, CNS hypomyelination, Generalized dystonia, Sudanophilic leukod... |
OMIM:312080 |
| Dystonia 7, Torsion |
|
Blepharospasm, Hand tremor, Clumsiness, Torticollis, Writer's cramp, Torsion dystonia, Oromandibu... |
OMIM:602124 |
| Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
| Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
| X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Abnormal nerve conduction velocity, Tremor, Ataxia |
ORPHA:101075 |
| Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:2590 |
| Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Optic atrophy, Spasticity, CNS hypomyelination, Leukodystrophy, Gait ataxia, Intention tremor, Dy... |
OMIM:614381 |
| Cryofibrinogenemia, Familial Primary |
|
Acrocyanosis |
OMIM:123540 |
| Combined Oxidative Phosphorylation Deficiency 4 |
|
Death in infancy, Respiratory failure, Leukodystrophy |
OMIM:610678 |
| Neurodegeneration With Brain Iron Accumulation 3 |
|
Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,... |
OMIM:606159 |
| 4H Leukodystrophy |
|
Optic atrophy, Dysmetria, Tremor, Abnormality of extrapyramidal motor function, Progressive gait ... |
ORPHA:289494 |
| Multiple System Atrophy, Parkinsonian Type |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Gait ataxia, Axial dystonia, Rigi... |
ORPHA:98933 |
| Neurodegeneration With Brain Iron Accumulation 8 |
|
Tremor, Dysmetria, Ataxia |
OMIM:617917 |
| Hyperekplexia 4 |
|
Respiratory failure |
OMIM:618011 |
| Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Facial paralysis, Respiratory insufficiency, Death in infancy, Neonatal death, Respiratory failure |
OMIM:605711 |
| Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Pill-rolling tremor, Resting tremor, Postural tremor, Cogwheel rigidity, Gait ataxia, Tremor, Rig... |
OMIM:600116 |
| Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Abnormal myelination, Agenesis of corpus callosum |
ORPHA:85179 |
| Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset |
|
Limb ataxia, Gait ataxia, Dysmetria, Tremor, Abnormal pyramidal sign, Oculomotor apraxia, Ataxia,... |
OMIM:617145 |
| Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures |
|
Chorea, Gait ataxia, Myoclonus, Tremor, Truncal ataxia |
OMIM:618587 |
| Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Tremor, Ataxia |
OMIM:619099 |
| Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Cyanosis |
ORPHA:91130 |
| Postnatal Microcephaly-Infantile Hypotonia-Spastic Diplegia-Dysarthria-Intellectual Disability Syndrome |
|
Abnormal CNS myelination, Spastic paraplegia, Tremor, Babinski sign |
ORPHA:477673 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Cyanosis, Facial palsy, Respiratory failure |
ORPHA:98913 |
| Familial Dyskinesia And Facial Myokymia |
|
Resting tremor, Chorea, Myoclonus, Limb hypertonia, Dystonia |
ORPHA:324588 |
| X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Decreased nerve conduction velocity, Tremor, Ataxia |
ORPHA:101078 |
| Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Bradykinesia, Tremor, Rigidity, Ataxia, Dystonia |
OMIM:617836 |
| X-Linked Dystonia-Parkinsonism |
|
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... |
ORPHA:53351 |
| Parkinsonism-Dystonia 3, Childhood-Onset |
|
Chorea, Action tremor, Tremor, Hyperkinetic movements, Parkinsonism, Hypertonia, Ataxia, Dystonia |
OMIM:619738 |
| Mitochondrial Phosphate Carrier Deficiency |
|
Cyanosis, Respiratory insufficiency |
OMIM:610773 |
| Aicardi-Goutieres Syndrome 6 |
|
Leukodystrophy, Dystonia, Tremor, Rigidity |
OMIM:615010 |
| X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Ataxia |
ORPHA:99014 |
| Combined Oxidative Phosphorylation Defect Type 23 |
|
Cyanosis, Respiratory failure, Leukodystrophy |
ORPHA:444013 |
| X-Linked Parkinsonism-Spasticity Syndrome |
|
Spasticity, Spastic paraparesis, Resting tremor, Cogwheel rigidity, Ankle clonus, Babinski sign, ... |
ORPHA:363654 |
| Cerebral Creatine Deficiency Syndrome 2 |
|
Myoclonus, Tremor, Rigidity, Lower limb spasticity, Paraparesis, Hypertonia, Ataxia, Progressive ... |
OMIM:612736 |
| Dystonia 2, Torsion, Autosomal Recessive |
|
Blepharospasm, Torsion dystonia, Tremor, Torticollis |
OMIM:224500 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Myoclonus, Gait ataxia, Dysmetria, Tremor, Dystonia, Dysdiadochokinesis, Progressi... |
ORPHA:254881 |
| Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis |
ORPHA:71277 |
| Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Petechiae, Purpura, Respiratory failure, Vasculitis in the skin |
OMIM:620296 |
| Spinocerebellar Ataxia, Autosomal Recessive 2 |
|
Spasticity, Incoordination, Limb ataxia, Gait ataxia, Dysmetria, Tremor, Ataxia |
OMIM:213200 |
| Glycosylphosphatidylinositol Biosynthesis Defect 15 |
|
Optic atrophy, Spasticity, Gait ataxia, Tremor, Dysmetria, Apraxia |
OMIM:617810 |
| Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy |
OMIM:619386 |
| Multiple System Atrophy, Cerebellar Type |
|
Resting tremor, Autonomic bladder dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Axial d... |
ORPHA:227510 |
| Pontocerebellar Hypoplasia Type 1 |
|
Optic atrophy, Respiratory failure |
ORPHA:2254 |
| Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Delayed myelination, Lateral ventricle dilatation, Cyanotic episode |
ORPHA:284417 |
| Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Hypoxemia, Respiratory failure |
ORPHA:70587 |
| Coenzyme Q10 Deficiency, Primary, 9 |
|
Myoclonus, Tremor, Dysmetria, Lower limb spasticity, Ataxia |
OMIM:619028 |
| Infantile Neuronal Ceroid Lipofuscinosis |
|
Spasticity, Chorea, Myoclonus, Dysmetria, Tremor, Clumsiness, Myoclonic spasms, Ataxia, Dystonia,... |
ORPHA:79263 |
| Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Respiratory failure |
OMIM:613435 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Spastic paraparesis, Resting tremor, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxi... |
OMIM:615157 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Involuntary movements, Spasticity, Abnormality of coordination, Myoclonus, Tremor,... |
ORPHA:442835 |
| Developmental And Epileptic Encephalopathy 32 |
|
Myoclonus, Tremor, Ataxia |
OMIM:616366 |
| Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Neonatal respiratory distress, Respiratory failure |
OMIM:616867 |
| Hemiparkinsonism-Hemiatrophy Syndrome |
|
Bradykinesia, Tremor, Hemiparesis, Parkinsonism, Dystonia |
ORPHA:306669 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Agenesis of corpus callosum |
OMIM:312170 |
| Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Bradykinesia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication, ... |
ORPHA:240085 |
| Dentatorubral Pallidoluysian Atrophy |
|
Blepharospasm, Involuntary movements, Dysdiadochokinesis, Limb ataxia, Myoclonus, Action tremor, ... |
ORPHA:101 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Optic atrophy, Tremor, Babinski sign, Spastic ataxia, Clumsiness, Hypertonia, Upper motor neuron ... |
ORPHA:137898 |
| Hyperphenylalaninemia, Bh4-Deficient, A |
|
Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia, Ataxia, Bradykinesia, Chor... |
OMIM:261640 |
| Late-Infantile/Juvenile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Abnormal CNS mye... |
ORPHA:206443 |
| Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures |
|
Gait ataxia, Tremor, Ataxia |
OMIM:617831 |
| Epilepsy, Familial Adult Myoclonic, 2 |
|
Blepharospasm, Giant somatosensory evoked potentials, Myoclonus, Tremor, Enhancement of the C-ref... |
OMIM:607876 |
| Spinocerebellar Ataxia 15 |
|
Postural tremor, Limb ataxia, Gait ataxia, Action tremor, Truncal ataxia |
OMIM:606658 |
| Developmental And Epileptic Encephalopathy 4 |
|
Spastic paraplegia, Tremor, Cerebral hypomyelination, Delayed CNS myelination, Spastic tetraplegi... |
OMIM:612164 |
| Triosephosphate Isomerase Deficiency |
|
Respiratory insufficiency, Death in infancy, Death in adolescence, Jaundice, Respiratory insuffic... |
OMIM:615512 |
| Benign Familial Infantile Epilepsy |
|
Cyanosis |
ORPHA:306 |
| Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Chorea, Limb ataxia, Gait ataxia, Tremor, Oculomotor apraxia, Ataxia, Decreased number of large p... |
OMIM:208920 |
| Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Neonatal respiratory distress, Cyanosis, Death in infancy, Neonatal death, Hypoxemia, Respiratory... |
OMIM:610921 |
| Atypical Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, Rigidity, Parkinsonism, ... |
ORPHA:99750 |
| Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Abnormal myelination |
ORPHA:352682 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Facial palsy, Respiratory failure |
OMIM:606612 |
| Dystonia 1, Torsion, Autosomal Dominant |
|
Blepharospasm, Generalized dystonia, Tremor, Babinski sign, Hypertonia, Torticollis, Torsion dyst... |
OMIM:128100 |
| Spinocerebellar Ataxia Type 1 |
|
Abnormal nerve conduction velocity, Optic atrophy, Respiratory failure, Abnormality of somatosens... |
ORPHA:98755 |
| Kufor-Rakeb Syndrome |
|
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... |
OMIM:606693 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Bradykinesia, Tremor, Rigidity, Limb hypertonia, Dystonia |
ORPHA:70594 |
| Behr Syndrome |
|
Optic atrophy, Dysmetria, Tremor, Babinski sign, Ataxia, Truncal ataxia, Progressive spasticity, ... |
OMIM:210000 |
| Parkinson-Dementia Syndrome |
|
Parkinsonism, Abnormal pyramidal sign, Tremor, Rigidity |
OMIM:260540 |
| Asbestos Intoxication |
|
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Respiratory failure |
ORPHA:2302 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Respiratory failure, Death in childhood |
OMIM:615838 |
| Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Respiratory failure |
OMIM:618233 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia, Rigidity... |
OMIM:607483 |
| Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Ventilator dependence with inability to wean, Decreased nerve conduction velocity, Respiratory fa... |
OMIM:604320 |
| Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Hypoxemia, Respiratory failure, Respiratory i... |
ORPHA:723 |
| Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Cyanosis |
ORPHA:2004 |
| Inherited Creutzfeldt-Jakob Disease |
|
Progressive extrapyramidal muscular rigidity, Chorea, Spastic hemiparesis, Myoclonus, Gait ataxia... |
ORPHA:282166 |
| Parkinson Disease 14, Autosomal Recessive |
|
Upper limb postural tremor, Spasticity, Pill-rolling tremor, Resting tremor, Hand tremor, Axial d... |
OMIM:612953 |
| Glut1 Deficiency Syndrome 2 |
|
Dystonia, Choreoathetosis, Tremor, Ataxia |
OMIM:612126 |
| Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in childhood, Death in infancy, P... |
OMIM:607625 |
| Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Respiratory failure, Reduced subcutaneous adipose tissue |
ORPHA:363400 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Spastic paraparesis, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous sys... |
OMIM:300894 |
| Ullrich Congenital Muscular Dystrophy |
|
Respiratory failure |
ORPHA:75840 |
| Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Respiratory failure |
ORPHA:70472 |
| Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures |
|
Optic atrophy, Dysmetria, Tremor, Delayed CNS myelination, Limb hypertonia, Hypertonia, Ataxia, D... |
OMIM:617710 |
| Tricuspid Atresia |
|
Cyanosis |
ORPHA:1209 |
| Snakebite Envenomation |
|
Erythema, Respiratory failure, Angioedema, Ecchymosis |
ORPHA:449285 |
| Mohr-Tranebjaerg Syndrome |
|
Optic atrophy, Generalized dystonia, Abnormality of somatosensory evoked potentials, Tremor, Ankl... |
ORPHA:52368 |
| Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
| Parkinson Disease 21 |
|
Parkinsonism, Bradykinesia, Tremor, Rigidity |
OMIM:616361 |
| Obesity-Hypoventilation Syndrome |
|
Cyanosis |
OMIM:257500 |
| Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type |
|
Jaundice, Respiratory failure |
OMIM:250940 |
| Hypermanganesemia With Dystonia 2 |
|
Spasticity, Generalized dystonia, Limb dystonia, Tremor, Ankle clonus, Dystonia, Opisthotonus, Pa... |
OMIM:617013 |
| Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Respiratory failure |
OMIM:616505 |
| Adult Acute Respiratory Distress Syndrome |
|
Hypoxemia, Abnormal blood gas level, Respiratory failure |
ORPHA:70578 |
| Pelizaeus-Merzbacher Disease, Connatal Form |
|
Cerebral hypomyelination, Abnormal myelination, Respiratory failure |
ORPHA:280210 |
| Ciliary Dyskinesia, Primary, 5 |
|
Respiratory insufficiency due to defective ciliary clearance, Neonatal respiratory distress, Resp... |
OMIM:608647 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Abnormality of coordination, Limb dystonia, Tremor, Dystonia, Parkinsonism, Hy... |
ORPHA:352649 |
| Peroxisome Biogenesis Disorder 5B |
|
Death in childhood, Tremor, Dysmetria, Oculomotor apraxia, Ataxia |
OMIM:614867 |
| Spinocerebellar Ataxia 42 |
|
Tremor, Babinski sign, Spastic ataxia, Abnormal pyramidal sign, Ataxia, Spastic gait |
OMIM:616795 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
ORPHA:352447 |
| Autosomal Recessive Cerebelloparenchymal Disorder Type 3 |
|
Poor motor coordination, Spasticity, Gait ataxia, Dysmetria, Tremor, Oculomotor apraxia, Ataxia |
ORPHA:1170 |
| Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure |
OMIM:619483 |
| Glutathionuria |
|
Dysdiadochokinesis, Action tremor, Tremor |
OMIM:231950 |
| Buerger Disease |
|
Livedo reticularis, Acrocyanosis |
ORPHA:36258 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... |
ORPHA:79138 |
| Laryngeal Abductor Paralysis |
|
Cyanosis |
OMIM:150260 |
| Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Lateral ventricle dilatation, Respiratory insufficiency due to muscle weakness |
OMIM:618291 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Spastic paraplegia, Spastic tetraplegia, Resting tremor, Tremor, Dystonia, Babinski sign, Parkins... |
OMIM:300055 |
| Sandestig-Stefanova Syndrome |
|
Delayed CNS myelination, Respiratory failure |
OMIM:618804 |
| Peripheral Motor Neuropathy-Dysautonomia Syndrome |
|
Acrocyanosis |
ORPHA:2400 |
| Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Decreased distal sensory nerve action potential, Respiratory failure, Intercostal muscle weakness |
OMIM:606071 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure |
OMIM:613954 |
| Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome |
|
Tremor |
ORPHA:66633 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Spasticity, Death in infancy, Tremor, Dystonia, Choreoathetosis |
OMIM:617664 |
| Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features |
|
Spastic paraplegia, Spasticity, CNS hypomyelination, Dysmetria, Tremor, Babinski sign, Ataxia, Op... |
OMIM:618527 |
| Alg1-Cdg |
|
Respiratory failure |
ORPHA:79327 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Spasticity, Resting tremor, Gait ataxia, Intention tremor, Abnormal cranial nerve morphology, Rig... |
ORPHA:247234 |
| Spinocerebellar Ataxia Type 21 |
|
Gait ataxia, Tremor, Abnormality of extrapyramidal motor function, Rigidity, Progressive cerebell... |
ORPHA:98773 |
| Ataxia With Vitamin E Deficiency |
|
Dysmetria, Hemiplegia/hemiparesis, Tremor, Abnormal pyramidal sign, Hypertonia, Ataxia, Dystonia,... |
ORPHA:96 |
| Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Hypoxemia, Cyanosis |
ORPHA:2257 |
| Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome |
|
Optic atrophy, Spasticity, Gait ataxia, Tremor, Dysmetria, Oculomotor apraxia |
ORPHA:529665 |
| Encephalopathy, Ethylmalonic |
|
Acrocyanosis, Petechiae, Death in infancy |
OMIM:602473 |
| Hsd10 Disease, Infantile Type |
|
Optic atrophy, Cyanosis |
ORPHA:391428 |
| Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy |
ORPHA:1194 |
| Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Respiratory failure, Lateral ventricle dilatation, Death in childhood |
OMIM:619847 |
| Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Parkinsonism, Bradykinesia, Resting tremor, Rigidity |
OMIM:614251 |
| Cleft Larynx, Posterior |
|
Cyanosis |
OMIM:215800 |
| Spinocerebellar Ataxia 8 |
|
Spasticity, Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia |
OMIM:608768 |
| Acute Interstitial Pneumonia |
|
Cyanosis, Hypoxemia, Respiratory failure |
ORPHA:79126 |
| Congenital Pulmonary Lymphangiectasia |
|
Cyanosis |
ORPHA:2414 |
| Acute Lung Injury |
|
Hypoxemia, Respiratory failure |
ORPHA:178320 |
| Congenital Myopathy 21 With Early Respiratory Failure |
|
Respiratory failure |
OMIM:620326 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Spasticity, Resting tremor, Limb dystonia, Rigidity, Parkinsonism, Abnormal pyramidal sign, Abnor... |
OMIM:616840 |
| Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation |
|
Abnormal myelination, Myoclonus, Hypertonia |
ORPHA:289266 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Bradykinesia, Tremor, Rigidity, Parkinsonism, Abnormal autonomic nervous system p... |
OMIM:168600 |
| Severe Congenital Nemaline Myopathy |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:171430 |
| Gerstmann-Straussler Disease |
|
Spasticity, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Parkinsonism, Apraxia, Truncal... |
OMIM:137440 |
| Laryngotracheal Angioma |
|
Cyanosis |
ORPHA:137935 |
| Metatropic Dysplasia |
|
Respiratory failure, Respiratory insufficiency |
OMIM:156530 |
| Hypermanganesemia With Dystonia 1 |
|
Spastic paraparesis, Tremor, Rigidity, Dystonia, Abnormality of extrapyramidal motor function, Pa... |
OMIM:613280 |
| Deafness-Lymphedema-Leukemia Syndrome |
|
Bruising susceptibility, Respiratory failure |
ORPHA:3226 |
| High Altitude Pulmonary Edema |
|
Hypoxemia, Cyanosis |
ORPHA:330012 |
| Spinocerebellar Ataxia Type 27 |
|
Hand tremor, Limb ataxia, Gait ataxia, Tremor, Truncal ataxia |
ORPHA:98764 |
| Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Cyanosis |
OMIM:261680 |
| Boutonneuse Fever |
|
Petechiae, Respiratory failure |
ORPHA:83313 |
| S-Adenosylhomocysteine Hydrolase Deficiency |
|
CNS hypomyelination, Delayed myelination, Respiratory failure |
ORPHA:88618 |
| Congenital Tricuspid Valve Dysplasia |
|
Cyanosis, Hypoxemia, Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:555874 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Leukodystrophy, Respiratory insufficiency, Cyanosis, Death in infancy, Optic disc pallor, Optic n... |
OMIM:252010 |
| Benign Familial Neonatal Epilepsy |
|
Circumoral cyanosis |
ORPHA:1949 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Respiratory failure, Death in childhood, Respiratory insufficiency due to muscle w... |
OMIM:220110 |
| Chiari Malformation Type Ii |
|
Cyanosis, Agenesis of corpus callosum |
OMIM:207950 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Spasticity, Tetraparesis, Autonomic bladder dysfunction, Action tremor, Abnormal pyramidal sign, ... |
ORPHA:99027 |
| Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Palmoplantar cutis laxa, Respiratory failure, Neonatal death |
OMIM:616482 |
| Perry Syndrome |
|
Parkinsonism, Tremor, Abnormality of extrapyramidal motor function |
ORPHA:178509 |
| Congenital Heart Block |
|
Cyanosis |
ORPHA:60041 |
| Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia |
|
Incoordination, Tremor, Oculomotor apraxia, Abnormal pyramidal sign, Ataxia, Eyelid myoclonus |
OMIM:618060 |
| Avian Influenza |
|
Hypoxemia, Respiratory failure, Miscarriage |
ORPHA:454836 |
| Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure |
OMIM:603689 |
| Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Cerebral hypomyelination, Respiratory failure, Respiratory failure requiring assis... |
ORPHA:496641 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial palsy, Facial diplegia, Respiratory failure |
ORPHA:98905 |
| Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
| Acquired Methemoglobinemia |
|
Hypoxemia, Cyanosis |
ORPHA:464453 |
| Early-Onset Progressive Leukoencephalopathy-Central Nervous System Calcification-Deafness-Visual Impairment Syndrome |
|
Absent brainstem auditory responses, Respiratory failure |
ORPHA:3240 |
| Spinocerebellar Ataxia, Autosomal Recessive 30 |
|
Tremor, Titubation, Dysmetria, Ataxia |
OMIM:619405 |
| Hypoadrenocorticism, Familial |
|
Cyanosis |
OMIM:240200 |
| Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure, Death in infancy |
OMIM:614862 |
| Criss-Cross Heart |
|
Cyanosis, Respiratory insufficiency |
ORPHA:1461 |
| Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
| Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Facial diplegia, Intercostal muscle weakness, Respiratory insuffic... |
ORPHA:70 |
| Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory failure |
ORPHA:2759 |
| Tremor, Nystagmus, And Duodenal Ulcer |
|
Kinetic tremor, Tremor |
OMIM:190310 |
| Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Cyanosis, Hypoxemia, Respiratory failure, Respiratory insufficiency |
OMIM:610913 |
| Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Respiratory insufficiency, Death in infancy, Agenesis of corpus ca... |
OMIM:608836 |
| Congenital Myasthenic Syndrome |
|
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Intermittent episodes of respiratory insufficiency due to muscle weakness, Fr... |
ORPHA:98914 |
| Cryptogenic Organizing Pneumonia |
|
Hypoxemia, Cyanosis |
ORPHA:1302 |
| Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Respiratory insufficiency, Death in childhood, Death in infancy, Optic neuropathy,... |
OMIM:610505 |
| Congenital Fibrinogen Deficiency |
|
Subcutaneous hemorrhage, Cyanosis, Bruising susceptibility |
ORPHA:335 |
| Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory failure |
OMIM:620166 |
| Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Respiratory failure |
ORPHA:2707 |
| Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Delayed CNS myelination, CNS hypomyelination, Cyanosis |
OMIM:619580 |
| Classic Progressive Supranuclear Palsy Syndrome |
|
Blepharospasm, Progressive extrapyramidal muscular rigidity, Axial dystonia, Tremor, Dystonia, Pa... |
ORPHA:240071 |
| Lethal Congenital Contracture Syndrome 2 |
|
Respiratory failure |
OMIM:607598 |
| Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Cyanosis |
ORPHA:91359 |
| Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Respiratory failure |
ORPHA:36238 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Stillbirth, Optic disc pallor, Facial palsy, Respiratory failure |
OMIM:259720 |
| Infantile Krabbe Disease |
|
Delayed brainstem auditory evoked response conduction time, Decreased nerve conduction velocity, ... |
ORPHA:206436 |
| Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Dysplastic corpus callosum, Cyanosis, Lateral ventricle dilatation |
ORPHA:488627 |
| Amyloidosis, Hereditary Systemic 1 |
|
Spasticity, Spastic paraparesis, Paraplegia, Limb ataxia, Tremor, Hemiparesis, Orthostatic hypote... |
OMIM:105210 |
| Dravet Syndrome |
|
Cyanotic episode |
ORPHA:33069 |
| Neurodegeneration With Brain Iron Accumulation 4 |
|
Optic atrophy, Spasticity, Generalized dystonia, Tremor, Abnormality of extrapyramidal motor func... |
OMIM:614298 |
| Congenital Myopathy 10B, Mild Variant |
|
Respiratory failure |
OMIM:620249 |
| Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Respiratory failure |
ORPHA:542323 |
| Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure |
ORPHA:1861 |
| Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Respiratory failure, Respiratory insufficiency |
OMIM:618329 |
| Tetanus |
|
Autonomic bladder dysfunction, Tremor, Rigidity, Opisthotonus, Spasticity of pharyngeal muscles, ... |
ORPHA:3299 |
| Ethylmalonic Encephalopathy |
|
Acrocyanosis, Petechiae |
ORPHA:51188 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Respiratory failure |
OMIM:617301 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Respiratory failure, Leukodystrophy |
OMIM:616538 |
| Restrictive Dermopathy 2 |
|
Cyanosis |
OMIM:619793 |
| Carnitine-Acylcarnitine Translocase Deficiency |
|
Cyanosis, Respiratory insufficiency |
ORPHA:159 |
| Aicardi-Goutieres Syndrome 1 |
|
Erythema, Petechiae, Purpura, CNS demyelination, Prolonged neonatal jaundice, Acrocyanosis |
OMIM:225750 |
| Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory failure |
OMIM:617895 |
| Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:613845 |
| Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Cyanosis |
OMIM:250800 |
| Muscular Dystrophy, Duchenne Type |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness |
OMIM:310200 |
| Idiopathic Pulmonary Fibrosis |
|
Orthodeoxia, Acrocyanosis |
ORPHA:2032 |
| 3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Neonatal death, Respiratory arrest, Jaundice, Respiratory failure |
OMIM:617248 |
| Leigh Syndrome |
|
Optic atrophy, Respiratory failure, Leukodystrophy, Agenesis of corpus callosum |
ORPHA:506 |
| Riddle Syndrome |
|
Neonatal asphyxia, Erythema, Telangiectasia, Conjunctival telangiectasia, Demyelinating periphera... |
ORPHA:420741 |
| Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Respiratory failure, Death in childhood |
OMIM:617186 |
| Migraine, Familial Hemiplegic, 2 |
|
Episodic ataxia, Hemiplegia, Gait ataxia, Dysmetria, Hemiparesis, Tremor, Apraxia |
OMIM:602481 |
| Aceruloplasminemia |
|
Blepharospasm, Involuntary movements, Chorea, Limb ataxia, Gait ataxia, Tremor, Rigidity, Parkins... |
ORPHA:48818 |
| Idiopathic Pulmonary Hemosiderosis |
|
Respiratory failure |
ORPHA:99931 |
| Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Cyanosis |
OMIM:610910 |
| Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Acrocyanosis |
OMIM:614407 |
| Methemoglobinemia And Ambiguous Genitalia |
|
Cyanosis |
OMIM:250790 |
| Mitochondrial Trifunctional Protein Deficiency 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609015 |
| Cerebral Amyloid Angiopathy, Itm2B-Related, 1 |
|
Spasticity, Hypertonia, Tremor, Rigidity |
OMIM:176500 |
| Poliomyelitis |
|
Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi... |
ORPHA:2912 |
| Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Cardiorespiratory arrest, Respiratory failure |
ORPHA:26791 |
| Adult-Onset Dystonia-Parkinsonism |
|
Progressive extrapyramidal movement disorder, Spasticity, Bradykinesia, Myoclonus, Tremor, Rigidi... |
ORPHA:199351 |
| Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2 |
|
Decreased motor nerve conduction velocity, Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor,... |
OMIM:606002 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Cyanosis |
ORPHA:3304 |
| Congenitally Uncorrected Transposition Of The Great Arteries |
|
Cyanosis, Hypoxemia |
ORPHA:860 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Respiratory insufficienc... |
ORPHA:308552 |
| Isolated Right Ventricular Hypoplasia |
|
Hypoxemia, Cyanosis |
ORPHA:439 |
| Scedosporiosis |
|
Respiratory failure |
ORPHA:449280 |
| Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Respiratory failure |
ORPHA:244 |
| Multiple System Atrophy 1, Susceptibility To |
|
Tremor, Rigidity, Babinski sign, Parkinsonism, Orthostatic hypotension, Abnormal autonomic nervou... |
OMIM:146500 |
| Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Tongue tremor, Mixed demyelinating and axonal polyneuropathy, Fasciculations, Abnormal motor nerv... |
ORPHA:466768 |
| Lethal Acantholytic Erosive Disorder |
|
Fragile skin, Respiratory failure |
ORPHA:158687 |
| Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Respiratory failure, Facial palsy, Intercostal muscle weakness, Respiratory insufficiency |
ORPHA:258 |
| Hyperimmunoglobulinemia D With Periodic Fever |
|
Erythema, Acrocyanosis, Purpura, Urticaria |
ORPHA:343 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Cyanosis, Respiratory insufficiency |
OMIM:617239 |
| Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cyanosis, Neonatal respiratory distress, Death in childhood, Death in infancy |
OMIM:618426 |
| Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Death in infancy, Respiratory failure, Death in childhood |
OMIM:620278 |
| 3-Methylglutaconic Aciduria Type 7 |
|
Respiratory failure |
ORPHA:445038 |
| Structural Heart Defects And Renal Anomalies Syndrome |
|
Partial agenesis of the corpus callosum, Cyanosis, Death in infancy |
OMIM:617478 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iii |
|
Decreased number of large peripheral myelinated nerve fibers, Acrocyanosis, Orthostatic hypotension |
OMIM:223900 |
| Tetrasomy 5P |
|
Cyanosis |
ORPHA:3309 |
| Parkinson Disease 20, Early-Onset |
|
Involuntary movements, Bradykinesia, Tremor, Rigidity, Parkinsonism, Dystonia, Eyelid apraxia |
OMIM:615530 |
| Mitochondrial Trifunctional Protein Deficiency |
|
Respiratory failure, Respiratory insufficiency |
ORPHA:746 |
| Eosinophilic Fasciitis |
|
Acrocyanosis |
ORPHA:3165 |
| Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Respiratory failure |
OMIM:620327 |
| Mercury Poisoning |
|
Respiratory failure |
ORPHA:330021 |
| Acquired Purpura Fulminans |
|
Acrocyanosis, Macular purpura |
ORPHA:49566 |
| Meckel Syndrome 14 |
|
Cardiorespiratory arrest, Cyanosis |
OMIM:619879 |
| Pulmonary Alveolar Microlithiasis |
|
Respiratory insufficiency, Oxygen desaturation on exertion, Cyanosis, Respiratory failure, Hypoxemia |
ORPHA:60025 |
| Eosinophilic Granulomatosis With Polyangiitis |
|
Respiratory insufficiency, Cutis marmorata, Purpura, Acrocyanosis, Urticaria |
ORPHA:183 |
| Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Cyanosis |
ORPHA:747 |
| Sepsis In Premature Infants |
|
Cyanosis, Jaundice, Purpura, Petechiae |
ORPHA:90051 |
| Waardenburg Syndrome Type 3 |
|
Acrocyanosis |
ORPHA:896 |
| Arterial Tortuosity Syndrome |
|
Telangiectasia of the skin, Prematurely aged appearance, Cardiorespiratory arrest, Respiratory fa... |
ORPHA:3342 |
| Amyotrophic Lateral Sclerosis |
|
Respiratory failure |
ORPHA:803 |
| Brain-Lung-Thyroid Syndrome |
|
Neonatal respiratory distress, Respiratory failure, Agenesis of corpus callosum |
ORPHA:209905 |
| Poems Syndrome |
|
Plethora, Papilledema, Acrocyanosis, Respiratory insufficiency due to muscle weakness |
ORPHA:2905 |
| Choanal Atresia |
|
Cyanosis |
ORPHA:137914 |
| Peripartum Cardiomyopathy |
|
Respiratory failure |
ORPHA:563 |
| Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Spastic paraparesis, Action tremor, Rigidity, Dystonia, Hypertonia, Truncal ataxia, Bradykinesia,... |
ORPHA:309854 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Respiratory failure, Delayed myelination, Lateral ventricle dilatation, Death in infancy |
OMIM:300868 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Acrocyanosis |
ORPHA:1867 |
| Multiple Mitochondrial Dysfunctions Syndrome 7 |
|
Cyanosis, Respiratory failure requiring assisted ventilation |
OMIM:620423 |
| Necrotizing Enterocolitis |
|
Cyanosis |
ORPHA:391673 |
| Double Outlet Right Ventricle |
|
Cyanosis |
ORPHA:3426 |
| Malignant Atrophic Papulosis |
|
Telangiectasia of the skin, Respiratory failure |
ORPHA:679 |
| X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency |
|
Abnormal myelination, Oculomotor apraxia |
ORPHA:67045 |
| Pulmonary Arteriovenous Malformation |
|
Telangiectasia, Cyanosis, Hypoxemia |
ORPHA:2038 |
| Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Respiratory failure, Death in childhood |
OMIM:618252 |
| Niemann-Pick Disease Type C |
|
Abnormal CNS myelination, Cataplexy, Leukodystrophy, Speech apraxia, Chorea, Limb dystonia, Axial... |
ORPHA:646 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Abnormal myelination |
OMIM:617333 |
| Pulmonary Capillary Hemangiomatosis |
|
Hypoxemia, Cyanosis |
ORPHA:199241 |
| Ethylene Glycol Poisoning |
|
Facial palsy, Cyanosis |
ORPHA:31826 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Cyanosis, Agenesis of corpus callosum |
ORPHA:137675 |
| Neurodegeneration With Brain Iron Accumulation 1 |
|
Blepharospasm, Optic atrophy, Spasticity, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism... |
OMIM:234200 |
| Congenital Fiber-Type Disproportion Myopathy |
|
Intercostal muscle weakness, Respiratory insufficiency due to muscle weakness, Respiratory failur... |
ORPHA:2020 |
| Kallmann Syndrome-Heart Disease Syndrome |
|
Cyanosis |
ORPHA:2326 |
| Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency |
|
Spasticity, Oculogyric crisis, Tremor, Oculomotor apraxia, Ataxia, Dystonia, Frequent falls, Chor... |
OMIM:612716 |
| Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Respiratory failure |
ORPHA:254528 |
| Joubert Syndrome 21 |
|
Optic atrophy, Respiratory failure, Megalopapilla |
OMIM:615636 |
| Tarp Syndrome |
|
Optic atrophy, Cyanosis |
ORPHA:2886 |
| Fucosidosis |
|
Acrocyanosis, Vascular skin abnormality |
ORPHA:349 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Chorea, Myoclonus, Action tremor, Hyperkinetic movements, Oculomotor apraxia, Ling... |
ORPHA:404454 |
| Bloom Syndrome |
|
Telangiectasia, Cutaneous photosensitivity, Respiratory failure |
ORPHA:125 |
| Pterin-4 Alpha-Carbinolamine Dehydratase Deficiency |
|
Oculogyric crisis, Cerebral palsy, Tremor, Parkinsonism, Hypertonia |
ORPHA:1578 |
| Congenital Tracheomalacia |
|
Neonatal respiratory distress, Cyanosis, Respiratory insufficiency |
ORPHA:95430 |
| Familial Dysautonomia |
|
Optic atrophy, Acrocyanosis, Orthostatic hypotension |
ORPHA:1764 |
| Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Respiratory failure, Death in childhood, Respiratory insufficiency |
OMIM:618278 |
| Listeriosis |
|
Jaundice, Respiratory failure, Miscarriage |
ORPHA:533 |
| Geleophysic Dysplasia 3 |
|
Respiratory failure |
OMIM:617809 |
| Hyperoxaluria, Primary, Type I |
|
Acrocyanosis, Optic atrophy, Cutis marmorata, Optic neuropathy |
OMIM:259900 |
| Radio-Renal Syndrome |
|
Respiratory failure |
ORPHA:3015 |
| Cardiogenic Shock |
|
Cyanosis, Hypoxemia |
ORPHA:97292 |
| Unilateral Polymicrogyria |
|
Cyanosis, Giant somatosensory evoked potentials |
ORPHA:268943 |
| Cardiac Valvular Dysplasia 2 |
|
Central cyanosis |
OMIM:620067 |
| Complete Atrioventricular Septal Defect |
|
Cyanosis |
ORPHA:1329 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Respiratory insufficiency |
ORPHA:365 |
| Nijmegen Breakage Syndrome |
|
Cutaneous photosensitivity, Respiratory failure |
ORPHA:647 |
| Abetalipoproteinemia |
|
Respiratory failure |
ORPHA:14 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Cardiorespiratory arrest, Cyanosis, Abnormal autonomic nervous system physiology |
ORPHA:293987 |
| Steinert Myotonic Dystrophy |
|
Respiratory insufficiency, Facial diplegia, Respiratory insufficiency due to muscle weakness, Res... |
ORPHA:273 |
| Hemorrhagic Fever-Renal Syndrome |
|
Petechiae, Respiratory failure, Ecchymosis |
ORPHA:340 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Erythema, Respiratory failure, Agenesis of corpus callosum |
ORPHA:2556 |
| Heterotaxy, Visceral, 7, Autosomal |
|
Cyanosis |
OMIM:616749 |
| Primary Hyperoxaluria |
|
Acrocyanosis, Optic disc pallor, Cutis marmorata, Optic atrophy |
ORPHA:416 |
| Atrial Septal Defect, Ostium Primum Type |
|
Cyanosis |
ORPHA:99106 |
| Myhre Syndrome |
|
Respiratory failure, Respiratory insufficiency |
OMIM:139210 |
| Myasthenia Gravis |
|
Acrocyanosis |
ORPHA:589 |
| Telangiectasia, Hereditary Hemorrhagic, Type 1 |
|
Tongue telangiectasia, Nail bed telangiectasia, Nasal mucosa telangiectasia, Cyanosis, Telangiect... |
OMIM:187300 |
| Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:613658 |
| Costello Syndrome |
|
Vestibular schwannoma, Respiratory failure, Respiratory insufficiency |
OMIM:218040 |
| Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Cyanosis |
OMIM:261740 |
| Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic atrophy, Lateral ventricle dilatation, Dysplastic corpus callosum, Respiratory failure, Opt... |
ORPHA:500150 |
| Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
| Esophageal Atresia |
|
Cyanosis |
ORPHA:1199 |
| Aicardi-Goutières Syndrome |
|
Leukodystrophy, Cutis marmorata, Demyelinating peripheral neuropathy, Prolonged neonatal jaundice... |
ORPHA:51 |
| Pitt-Hopkins Syndrome |
|
Aganglionic megacolon, Acrocyanosis |
ORPHA:2896 |
| Ear-Patella-Short Stature Syndrome |
|
Respiratory failure |
ORPHA:2554 |
| Telangiectasia, Hereditary Hemorrhagic, Type 2 |
|
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... |
OMIM:600376 |
| Congenital Tracheal Stenosis |
|
Neonatal asphyxia, Cyanosis |
ORPHA:141127 |
