Hemiparkinsonism-Hemiatrophy Syndrome |
|
Parkinsonism, Tremor, Neonatal asphyxia, Hemiparesis, Bradykinesia, Lateral ventricle dilatation,... |
ORPHA:306669 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Tremor, Decreased activity of mitochondrial complex III, Dysmetria, Gait ataxia, Compulsive behav... |
OMIM:615157 |
Combined Oxidative Phosphorylation Deficiency 38 |
|
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... |
OMIM:618378 |
Lopes-Maciel-Rodan Syndrome |
|
Cerebellar atrophy, Caudate atrophy, Axial hypotonia, Dystonia, Tremor, Abnormal pyramidal sign, ... |
OMIM:617435 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... |
ORPHA:275872 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Apraxia, Involuntary movements, Limb apraxia, Rigidity, Tremor, Abnormal py... |
ORPHA:240103 |
Hsd10 Mitochondrial Disease |
|
Restlessness, Aggressive behavior, Spastic tetraplegia, Hypotonia, Abnormal mitochondrial morphol... |
OMIM:300438 |
Spinocerebellar Ataxia 17 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Urinary incontinence, Parkinsonism, Aggress... |
OMIM:607136 |
Rapid-Onset Dystonia-Parkinsonism |
|
Cerebellar atrophy, Resting tremor, Torticollis, Parkinsonism, Dysphagia, Gait ataxia, Bradykines... |
ORPHA:71517 |
Huntington Disease |
|
Caudate atrophy, Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body ... |
ORPHA:399 |
Juvenile Huntington Disease |
|
Cerebellar atrophy, Hyperactivity, Ataxia, Rigidity, Chorea, Cerebellar vermis atrophy, Weight lo... |
ORPHA:248111 |
Dystonia-Parkinsonism-Hypermanganesemia Syndrome |
|
Cerebellar atrophy, Parkinsonism, Tremor, Babinski sign, Oromandibular dystonia, Scissor gait, Ce... |
ORPHA:521406 |
Spastic Paraplegia Type 7 |
|
Cerebellar atrophy, Babinski sign, Abnormal pyramidal sign, Abnormal mitochondrial morphology, Ur... |
ORPHA:99013 |
Spastic Paraplegia 78, Autosomal Recessive |
|
Cerebellar atrophy, Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Spastic paraplegia... |
OMIM:617225 |
Parkinson Disease 15, Autosomal Recessive Early-Onset |
|
Lower limb spasticity, Parkinsonism, Rigidity, Tremor, Babinski sign, Scissor gait, Bradykinesia,... |
OMIM:260300 |
Dystonia 16 |
|
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... |
OMIM:612067 |
Parkinsonism-Dystonia 1, Infantile-Onset |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal py... |
OMIM:613135 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 19 |
|
Increased mitochondrial number, Babinski sign, Decreased activity of mitochondrial complex IV, La... |
OMIM:619063 |
Dystonia 16 |
|
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim... |
ORPHA:210571 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Ataxia, Oculogyric crisis, Parkinsonism, Postural tremor, Rigidity, Babinsk... |
ORPHA:101150 |
Neurodegeneration With Brain Iron Accumulation 6 |
|
Dystonia, Rigidity, Spastic tetraplegia, Bradykinesia, Neurodegeneration, Compulsive behaviors, S... |
OMIM:615643 |
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive |
|
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysmetria, Dysphagia, Brad... |
OMIM:618317 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Resting tremor, Axial hypotonia, Apnea, Facial hypotonia, Dystonia, Ataxia, Tremor,... |
OMIM:300055 |
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome |
|
Lower limb spasticity, Hypotonia, Urinary urgency, Bradykinesia, Attention deficit hyperactivity ... |
OMIM:618878 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Dystonia, Parkinso... |
ORPHA:240085 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Death in infancy, Renal insufficiency, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:619386 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Hepatomegaly, Axial hypotonia, Elevated circulating aspartate aminotransferase concentration, Spa... |
OMIM:614924 |
Spinocerebellar Ataxia Type 20 |
|
Cerebellar atrophy, Isometric tremor, Ataxia, Kinetic tremor, Upper limb postural tremor, Abnorma... |
ORPHA:101110 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Respiratory insufficiency due ... |
OMIM:613561 |
Dystonia, Dopa-Responsive |
|
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... |
OMIM:128230 |
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1 |
|
Parkinsonism, Rigidity, Corpus callosum atrophy, Bradykinesia, Neuronal loss in central nervous s... |
OMIM:221820 |
Spinocerebellar Ataxia Type 12 |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Postural tremor, Action tremor, Abnormal pyramidal sign... |
ORPHA:98762 |
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient |
|
Axial hypotonia, Dystonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Attention d... |
OMIM:617384 |
Parkinsonism With Spasticity, X-Linked |
|
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity |
OMIM:300911 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Cerebellar atrophy, Torticollis, Postural tremor, Atrophy/Degeneration affecting the brainstem, L... |
OMIM:619862 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type |
|
Cerebellar atrophy, Parkinsonism, Rigidity, Babinski sign, Slurred speech, Cerebral atrophy, Brad... |
OMIM:300423 |
Parkinson Disease 2, Autosomal Recessive Juvenile |
|
Parkinsonism, Rigidity, Tremor, Cerebral atrophy, Bradykinesia, Dystonia |
OMIM:600116 |
Hyperphenylalaninemia, Bh4-Deficient, A |
|
Axial hypotonia, Dystonia, Small for gestational age, Ataxia, Parkinsonism, Rigidity, Tremor, Cho... |
OMIM:261640 |
Beta-Propeller Protein-Associated Neurodegeneration |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Cerebral atrop... |
ORPHA:329284 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 8 |
|
Severe temper tantrums, Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Bradykinesia... |
OMIM:619052 |
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis |
|
Diffuse cerebral atrophy, Postural tremor, Rigidity, Tremor, Babinski sign, Bradykinesia, Myoclon... |
ORPHA:314632 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Hepatomegaly, Increased urine succinate level, Apnea, Elevated circulating aspartate aminotransfe... |
OMIM:619048 |
Dystonia 12 |
|
Torticollis, Parkinsonism, Tremor, Dysphagia, Bradykinesia, Dystonia |
OMIM:128235 |
Dna2-Related Mitochondrial Dna Deletion Syndrome |
|
Decreased mitochondrial number, Slender build, Generalized hypotonia, Exertional dyspnea |
ORPHA:352470 |
Striatal Degeneration, Autosomal Dominant 1 |
|
Rigidity, Slurred speech, Bradykinesia, Dysdiadochokinesis, Degeneration of the striatum |
OMIM:609161 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Restrictive ventilatory defect, Increased mitochondrial number, Increased intramyocellular lipid ... |
ORPHA:457050 |
Cyanide-Induced Parkinsonism-Dystonia |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Subcortical cerebral atrophy, Cerebral cort... |
ORPHA:306692 |
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss |
|
Dystonia, Ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia, Dysmetria, Gait atax... |
OMIM:601338 |
Huntington Disease-Like 2 |
|
Rigidity, Chorea, Weight loss, Bradykinesia, Dystonia, Cerebral cortical atrophy, Action tremor |
OMIM:606438 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Axial hypotonia, Cachexia, Decreased activity of mitochondrial complex IV, ... |
OMIM:612075 |
Huntington Disease-Like 1 |
|
Cerebellar atrophy, Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, ... |
ORPHA:157941 |
Spastic Paraplegia 80, Autosomal Dominant |
|
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Urinary urgency, Bradykine... |
OMIM:618418 |
Basal Ganglia Calcification, Idiopathic, 1 |
|
Urinary incontinence, Parkinsonism, Rigidity, Tremor, Chorea, Abnormal pyramidal sign, Bradykines... |
OMIM:213600 |
Parkinson Disease 6, Autosomal Recessive Early-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Urinary urgency, Bradykinesia, Dystonia |
OMIM:605909 |
Spinocerebellar Ataxia 2 |
|
Urinary incontinence, Dysmetria, Generalized hypotonia, Urinary bladder sphincter dysfunction, At... |
OMIM:183090 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Hepatomegaly, Elevated circulating aspartate aminotransferase concentration... |
OMIM:615595 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Hepatomegaly, Death in infancy, Ataxia, Decreased activity of mitochondrial... |
OMIM:614299 |
Autosomal Dominant Striatal Neurodegeneration |
|
Rigidity, Dysdiadochokinesis, Bradykinesia, Dysphagia |
ORPHA:228169 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Dystonia, Hypertonia, Ethylmalonic aciduria, Increased level of methylsucci... |
ORPHA:26792 |
Huntington Disease |
|
Cerebellar atrophy, Rigidity, Chorea, Gait ataxia, Bradykinesia, Neuronal loss in central nervous... |
OMIM:143100 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Postural tremor, Chorea, Atrophy/Degeneration affecting the brainstem, Slurre... |
ORPHA:98755 |
Autosomal Dominant Spastic Paraplegia Type 3 |
|
Lower limb spasticity, Rigidity, Babinski sign, Urinary urgency, Bradykinesia, Lower limb hyperto... |
ORPHA:100984 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Hypotonia, Clumsiness,... |
OMIM:617854 |
Neurodegeneration With Brain Iron Accumulation 3 |
|
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Rigidity, Tremor, Chorea, Babinski sign, Blepharo... |
OMIM:606159 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Restlessness, Dystonia, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthoto... |
ORPHA:13 |
X-Linked Parkinsonism-Spasticity Syndrome |
|
Resting tremor, Diffuse cerebral atrophy, Babinski sign, Scissor gait, Cogwheel rigidity, Bradyki... |
ORPHA:363654 |
Parkinson Disease 22, Autosomal Dominant |
|
Restless legs, Resting tremor, Rigidity, Bradykinesia, Parkinsonism with favorable response to do... |
OMIM:616710 |
Parkinsonism With Polyneuropathy |
|
Resting tremor, Diffuse cerebral atrophy, Rigidity, Bradykinesia, Parkinsonism with favorable res... |
OMIM:619279 |
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive |
|
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... |
OMIM:618824 |
Perry Syndrome |
|
Hypoventilation, Central hypoventilation, Parkinsonism, Rigidity, Tremor, Respiratory insufficien... |
OMIM:168605 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Increased... |
ORPHA:254864 |
Infantile Dystonia-Parkinsonism |
|
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... |
ORPHA:238455 |
Childhood-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Neuromuscular dysphagia... |
ORPHA:171439 |
Parkinson Disease 11, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Bradyk... |
OMIM:607688 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Diaphragmatic paralysis, Hypotonia, Respiratory insufficiency, Restrictive ... |
OMIM:614399 |
Parkinson Disease 13, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia, Tremor |
OMIM:610297 |
Leber Optic Atrophy And Dystonia |
|
Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction |
OMIM:500001 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6 |
|
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy |
OMIM:618683 |
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly |
|
Nail-biting, Hyperactivity, Aggressive behavior, Nephrolithiasis, Self-biting, Bradykinesia, Self... |
OMIM:619827 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Neurogenic bladder, Axial hypotonia, Detrusor sphincter dyssynergia, Urinary... |
ORPHA:466722 |
Generalized Epilepsy With Febrile Seizures-Plus |
|
Incoordination, Ataxia, Tremor, Hypotonia, Bradykinesia, Poor fine motor coordination, Generalize... |
ORPHA:36387 |
Spinocerebellar Ataxia 10 |
|
Cerebellar atrophy, Incoordination, Urinary incontinence, Babinski sign, Abnormal pyramidal sign,... |
OMIM:603516 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Axial hypotonia, Small for gestational age, Oculogyric crisis, Cerebral palsy, Rigidity, Tremor, ... |
ORPHA:70594 |
Developmental Delay And Seizures With Or Without Movement Abnormalities |
|
Ataxia, Rigidity, Tremor, Bradykinesia, Generalized hypotonia, Dystonia |
OMIM:617836 |
Manganese Poisoning |
|
Postural tremor, Aggressive behavior, Hypersexuality, Abnormality of mitochondrial metabolism, Co... |
ORPHA:306682 |
Parkinson Disease 19A, Juvenile-Onset |
|
Parkinsonism, Rigidity, Abnormal pyramidal sign, Pill-rolling tremor, Bradykinesia, Dystonia, Spa... |
OMIM:615528 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Severe muscular hypotonia, Involuntary movements, Respiratory insufficiency... |
ORPHA:238329 |
Adult-Onset Nemaline Myopathy |
|
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Neuromuscular dysphagia... |
ORPHA:171442 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Cerebellar atrophy, Dystonia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Cerebral atrop... |
OMIM:300894 |
Parkinson Disease 5, Autosomal Dominant, Susceptibility To |
|
Rigidity, Parkinsonism with favorable response to dopaminergic medication, Bradykinesia |
OMIM:613643 |
Mitochondrial Membrane Protein-Associated Neurodegeneration |
|
Dystonia, Urinary incontinence, Parkinsonism, Rigidity, Babinski sign, Respiratory insufficiency,... |
ORPHA:289560 |
Inherited Creutzfeldt-Jakob Disease |
|
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... |
ORPHA:282166 |
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy |
|
Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity |
OMIM:183050 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress, Hypotonia |
ORPHA:2680 |
Dravet Syndrome |
|
Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m... |
ORPHA:33069 |
Fragile X Tremor/Ataxia Syndrome |
|
Cerebellar atrophy, Resting tremor, Diffuse cerebral atrophy, Postural tremor, Urinary incontinen... |
OMIM:300623 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Generalized dystonia, Ataxia, Chorea, Decreased activity of mitochondrial complex IV, Hypotonia, ... |
ORPHA:70472 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Elevated hepatic transaminase, Small for gestational age, Decreased activity of mitochondrial ATP... |
OMIM:610498 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia |
ORPHA:141152 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Cerebellar atrophy, Ataxia, Cerebral atrophy, Cogwheel rigidity, Bradykinesia, Dysphagia, Parkins... |
ORPHA:254886 |
Hypermanganesemia With Dystonia 2 |
|
Cerebellar atrophy, Axial hypotonia, Generalized dystonia, Dystonia, Parkinsonism, Tremor, Babins... |
OMIM:617013 |
Machado-Joseph Disease |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign,... |
OMIM:109150 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Bradykinesia, Frontotemporal cerebr... |
ORPHA:412066 |
Gaucher Disease Type 2 |
|
Respiratory distress, Hepatomegaly, Dystonia, Splenomegaly, Dysphagia, Cough, Spasticity, Abnorma... |
ORPHA:77260 |
Barth Syndrome |
|
Abnormal mitochondrial morphology |
ORPHA:111 |
Cln3 Disease |
|
Cerebellar atrophy, Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Increased circ... |
ORPHA:228346 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Failure to thrive, Hypotonia, Abnormality of the mitochondrion |
ORPHA:91130 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Hepatomegaly, Hyperactivity, Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Hyperinsul... |
ORPHA:363400 |
Kufor-Rakeb Syndrome |
|
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Paraparesis, ... |
OMIM:606693 |
X-Linked Dystonia-Parkinsonism |
|
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... |
ORPHA:53351 |
Peroxisomal Acyl-Coa Oxidase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Dystonia, B... |
OMIM:264470 |
Delayed Encephalopathy Due To Carbon Monoxide Poisoning |
|
Rigidity, Bradykinesia |
ORPHA:306686 |
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome |
|
Urinary incontinence, Parkinsonism, Rigidity, Tremor, Head titubation, Hypotonia, Truncal ataxia,... |
OMIM:618877 |
Combined Oxidative Phosphorylation Deficiency 21 |
|
Axial hypotonia, Increased cerebral lipofuscin, Cerebral atrophy, Neonatal death, Hepatic steatos... |
OMIM:615918 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Hypertonia, Pneumonia |
OMIM:254120 |
Corticobasal Syndrome |
|
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... |
ORPHA:454887 |
Neutral Lipid Storage Disease With Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Increased muscle lipid content, H... |
OMIM:610717 |
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities |
|
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... |
OMIM:619725 |
Spinocerebellar Ataxia Type 8 |
|
Cerebellar atrophy, Dystonia, Ataxia, Urinary incontinence, Rigidity, Limb ataxia, Gait ataxia, S... |
ORPHA:98760 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Mitochondrial Dna Depletion Syndrome 12A (Cardiomyopathic Type), Autosomal Dominant |
|
Death in infancy, Respiratory insufficiency due to muscle weakness, Decreased activity of mitocho... |
OMIM:617184 |
Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:227510 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Tremor, Gait ataxia, Abnormality of the liver, Hypertonia, Abnormality of the mitochondrion, Gene... |
ORPHA:254892 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Dystonia, Infantile axial hypotonia, Urinary incontinence, Parkinsonism, Chorea, ... |
ORPHA:225147 |
Gerstmann-Straussler Disease |
|
Cerebellar atrophy, Parkinsonism, Aggressive behavior, Rigidity, Tremor, Limb ataxia, Weight loss... |
OMIM:137440 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Ataxia, Tremor, Generalized hypotonia |
OMIM:619099 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Agenesis of corpus callosum |
ORPHA:171703 |
Combined Oxidative Phosphorylation Deficiency 16 |
|
Microvesicular hepatic steatosis, Elevated circulating alanine aminotransferase concentration, El... |
OMIM:615395 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Death in infancy, Neonatal respiratory distress, Axial hypotonia, Elevated circulating aspartate ... |
OMIM:245400 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Axial hypotonia, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Spasti... |
OMIM:617977 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Hepatomegaly, Cerebellar atrophy, Death in infancy, Decreased activity of m... |
OMIM:604377 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Cerebellar atrophy, Cryptorchidism, Hypotonia, Death in childhood, Micropen... |
OMIM:615597 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Anorexia, Splenomegaly, Hypotonia, Chore... |
ORPHA:79312 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Thyroid dysgenesis, Chorea, Elevated circulating thyroid-stimulating hormon... |
ORPHA:209905 |
Combined Oxidative Phosphorylation Deficiency 27 |
|
Cerebellar atrophy, Severe muscular hypotonia, Microvesicular hepatic steatosis, Chorea, Decrease... |
OMIM:616672 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Cerebellar atrophy, Hypospadias, Corpus callosum atrophy, Hypotonia, Tetrap... |
OMIM:619272 |
Pleural Mesothelioma |
|
Respiratory distress, Hepatomegaly, Dyspnea, Abnormal respiratory system physiology, Dysphagia, W... |
ORPHA:50251 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Elevated circulating aspartate aminotransferase concentra... |
OMIM:616974 |
Spinocerebellar Ataxia Type 13 |
|
Cerebellar atrophy, Torticollis, Urinary incontinence, Limb ataxia, Gait ataxia, Urinary urgency,... |
ORPHA:98768 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Decreased mitochondrial number, Hypergonadotropic hypogonadism, Respiratory i... |
ORPHA:352447 |
Rett Syndrome |
|
Dystonia, Limb apraxia, Bradykinesia, Agitation, Cholecystitis, Increased serum leptin, Infantile... |
ORPHA:778 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Atypical Juvenile Parkinsonism |
|
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... |
ORPHA:391411 |
Hypermanganesemia With Dystonia 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Parkinsonism, Rigidity, Tremor, Bradykines... |
OMIM:613280 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Hepatomegaly, Renal insufficiency, Death in infancy, Severe muscular hypotonia, Renal hypoplasia,... |
OMIM:614922 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... |
ORPHA:70589 |
Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:102 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypospadias, Hypotonia, Generalized hypotonia, Failure to thrive |
OMIM:300934 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Renal insufficiency, Stage 5 chronic kidney disease, Renal cyst, Obesity, H... |
OMIM:615993 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms |
OMIM:616341 |
Neurodegeneration With Brain Iron Accumulation 2B |
|
Cerebellar atrophy, Hyperactivity, Impulsivity, Chorea, Babinski sign, Dysphagia, Dysmetria, Gait... |
OMIM:610217 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Cerebellar atrophy, Parkinsonism, Respiratory insufficiency due to muscle weakness, Rigidity, Bab... |
OMIM:258450 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... |
ORPHA:254875 |
Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... |
ORPHA:98933 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Decreased activity of mitochondrial complex III, Choreoathetosis, Hy... |
ORPHA:17 |
Postencephalitic Parkinsonism |
|
Resting tremor, Oculogyric crisis, Involuntary movements, Cough, Rigidity, Babinski sign, Abnorma... |
ORPHA:97349 |
Atypical Progressive Supranuclear Palsy Syndrome |
|
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Rigidity, Tremor, Abnormal pyrami... |
ORPHA:99750 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartate aminotr... |
OMIM:212140 |
Combined Oxidative Phosphorylation Deficiency 18 |
|
Increased mitochondrial number, Tremor, Hypotonia, Methylmalonic aciduria, Dysmetria, Decreased a... |
OMIM:615578 |
Neuroferritinopathy |
|
Resting tremor, Caudate atrophy, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, C... |
ORPHA:157846 |
Medium Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Elevated urinary 3-hydroxybutyric acid, Dicarboxylic... |
ORPHA:42 |
Parkinson Disease 14, Autosomal Recessive |
|
Axial dystonia, Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Aggress... |
OMIM:612953 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Cerebellar atrophy, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Dysphagia, C... |
OMIM:617672 |
Classic Progressive Supranuclear Palsy Syndrome |
|
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... |
ORPHA:240071 |
Autosomal Dominant Dopa-Responsive Dystonia |
|
Torticollis, Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign... |
ORPHA:98808 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Failure to thrive, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper... |
ORPHA:60032 |
3-Methylglutaconic Aciduria Type 7 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Renal insufficiency, Hypothyroidism, Pneumotho... |
ORPHA:445038 |
Hereditary Late-Onset Parkinson Disease |
|
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Rigidity, Spastic/hyperactive bladder, Weigh... |
ORPHA:411602 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Generalized neonatal hypo... |
OMIM:300580 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Hemiplegia/hemiparesis, Chorea, Hypotoni... |
ORPHA:289916 |
Parkinson Disease, Late-Onset |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Dysphagia, Urinary urgency, Bradykinesia, Dystoni... |
OMIM:168600 |
Dystonia-Aphonia Syndrome |
|
Cerebellar atrophy, Generalized dystonia, Abnormal mitochondrial shape, Cerebral atrophy, Abnorma... |
ORPHA:412217 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Respiratory insuffici... |
OMIM:220110 |
Stt3B-Cdg |
|
Respiratory distress, Cerebellar atrophy, Cryptorchidism, Generalized hypotonia, Micropenis, Fail... |
ORPHA:370924 |
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Axial hypotonia, Abnormal mitochondrial shape, Atax... |
ORPHA:543470 |
Primary Progressive Freezing Gait |
|
Restless legs, Postural tremor, Urinary incontinence, Clonus, Rigidity, Babinski sign, Bradykines... |
ORPHA:75567 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Decreased activity of mitochondrial complex II |
OMIM:613642 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Hepatomegaly, Hypotonia, Organic aciduria, Generalized hypotonia |
OMIM:614741 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Weight ... |
ORPHA:142 |
Progressive Supranuclear Palsy |
|
Impulsivity, Rigidity, Tremor, Dysphagia, Blepharospasm, Bradykinesia, Dystonia, Neuronal loss in... |
ORPHA:683 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Cerebellar atrophy, Ataxia, Spastic paraplegia, Renal hypopla... |
ORPHA:254913 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Neurogenic bladder, Mitochondrial hypertrophy, Decreased activity of mitochondrial complex IV, Ba... |
OMIM:500013 |
Aicardi-Goutieres Syndrome 9 |
|
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Self-mutilation, Hypothyroidism, Hep... |
OMIM:619487 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Babinski sign, Progressive cerebellar ataxia, Type I diabetes mellitus, Neo... |
ORPHA:2596 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Death in infancy, Small for gestational age, Apnea, Central hypoventilation, Nephrogenic diabetes... |
OMIM:620167 |
Neurodegeneration With Brain Iron Accumulation 1 |
|
Urinary incontinence, Tremor, Abnormal pyramidal sign, Choreoathetosis, Eyelid apraxia, Hyperacti... |
OMIM:234200 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Hypotonia, Axonal degener... |
OMIM:620011 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Hepatomegaly, Hypotonia, Macrovesicular hepatic steatosis, Decreased activity of mitochondrial co... |
OMIM:618234 |
Intellectual Developmental Disorder, X-Linked 110 |
|
Bradykinesia |
OMIM:301095 |
Parkinson Disease 7, Autosomal Recessive Early-Onset |
|
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Blepharospasm, Bradykinesia, Parkinsonis... |
OMIM:606324 |
Parkinson Disease 17 |
|
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia |
OMIM:614203 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Hypotonia, Cerebral atrophy, Hypogonadism, Generalized hypotonia, Dysphagia... |
OMIM:160900 |
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism |
|
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia |
OMIM:619911 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thr... |
OMIM:618201 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Increased urine alpha-ketoglutarate concentration, Death in infancy, Axial hypotonia, Spastic tet... |
OMIM:605711 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Hepatomegaly, Glutaric aciduria, Jaundice, Electron transfer flavoprotein-u... |
OMIM:231680 |
Perching Syndrome |
|
Respiratory distress, Dysphagia |
OMIM:617055 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Lethargy, Failure to thrive, Aggressive behavior |
OMIM:237310 |
Parkinson Disease 1, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Urinary urgency, Bradykinesia, Myoclonus, Dyst... |
OMIM:168601 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Decreased response to grow... |
OMIM:610978 |
Morbid Obesity And Spermatogenic Failure |
|
Obesity, Oligozoospermia, Azoospermia, Type II diabetes mellitus, Hepatic steatosis |
OMIM:615703 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... |
OMIM:211530 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Ataxia, Parkinsonism, Rigidity, Diffuse cerebellar atrophy, Dysmetria, Gait ataxia, Bradykinesia,... |
ORPHA:93256 |
Hypertriglyceridemia, Transient Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Hepatic fibrosis, Failure to thrive, H... |
OMIM:614480 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hypotonia, Weight loss, Organic aciduria, Leth... |
ORPHA:79242 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... |
ORPHA:1302 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Ataxia, Tremor, Splenomegaly, ... |
OMIM:608799 |
Parkinsonian-Pyramidal Syndrome |
|
Neurogenic bladder, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Br... |
ORPHA:171695 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Hepatomegaly, Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, ... |
ORPHA:927 |
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Portal hypertension, Splenomegaly... |
OMIM:251880 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Cerebellar atrophy, Apnea, Ataxia, Spastic tetraparesis, Chorea, Frontotemp... |
ORPHA:79097 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal anterior horn cell morphology, Cryptorchidism, Respiratory insuffi... |
ORPHA:1145 |
Choreoacanthocytosis |
|
Caudate atrophy, Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Hep... |
ORPHA:2388 |
Ddost-Cdg |
|
Elevated hepatic transaminase, Nephrotic range proteinuria, Tremor, Oromotor apraxia, Generalized... |
ORPHA:300536 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Elevated hepatic transaminase, Respiratory distress, Neonatal respiratory distress, Death in infa... |
OMIM:615042 |
Mitochondrial Phosphate Carrier Deficiency |
|
Abnormal mitochondrial shape, Hypotonia, Respiratory insufficiency |
OMIM:610773 |
Adult-Onset Dystonia-Parkinsonism |
|
Eyelid apraxia, Rigidity, Tremor, Dysphagia, Focal dystonia, Clumsiness, Progressive extrapyramid... |
ORPHA:199351 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Generalized dystonia, Bruxism, Dysphagia, Weight loss, Blephar... |
ORPHA:93958 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements... |
ORPHA:98805 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Ureteral duplication, Apnea, Increased muscle lipid content, Macrovesicular hepatic steatosis, De... |
OMIM:608836 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Failure to thrive, Severe musc... |
ORPHA:367 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Small for gestational age, Hypotonia, Abnormal renal corticomedullary diffe... |
OMIM:616733 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Axial hypotonia, Ataxia, Hypotonia, Respiratory failure, Appendicular hypot... |
OMIM:620166 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Death in infancy, Dystonia, Respiratory insufficiency due to muscle weaknes... |
OMIM:615512 |
Liver Failure, Infantile, Transient |
|
Acute hepatic failure, Elevated hepatic transaminase, Hepatomegaly, 3-hydroxydicarboxylic aciduri... |
OMIM:613070 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Agenesis of corpus callosum, Abnormal mucociliary clearance |
OMIM:619466 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebellar atrophy, Abnormal muscle tone, Dysphagia, Hypoplastic spleen, Ag... |
ORPHA:89844 |
Obesity And Hypopigmentation |
|
Hyperinsulinemia, Hepatic steatosis, Polyphagia, Obesity |
OMIM:620195 |
Fumarase Deficiency |
|
Failure to thrive, Increased urine succinate level, Decreased fumarate hydratase activity, Intrah... |
OMIM:606812 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Hypospadias, Unilateral cryptorchidism, Bilateral cryptor... |
OMIM:300219 |
Fatty Liver Disease, Susceptibility To, 2 |
|
Hepatic steatosis |
OMIM:613387 |
Fatty Liver Disease, Susceptibility To, 1 |
|
Hepatic steatosis |
OMIM:613282 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee |
|
Elevated hepatic transaminase, Hepatic steatosis |
OMIM:618400 |
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Cerebellar atrophy, Abnormal mitochondrial shape, Dysphagia, Infantile axial hypotonia, Spasticity |
ORPHA:485421 |
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of |
|
Hepatomegaly, Death in infancy, Dicarboxylic aciduria, Exercise-induced myoglobinuria, Tachypnea,... |
OMIM:201475 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Congenital Disorder Of Glycosylation, Type Iip |
|
Elevated hepatic transaminase, Hepatic steatosis, Decreased liver function, Generalized hypotonia |
OMIM:616829 |
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome |
|
Tremor, Rigidity, Neuromuscular dysphagia, Spastic dysarthria, Blepharospasm, Bradykinesia, Oculo... |
ORPHA:240094 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Increased circulating procalcitonin concentration, Diabetes mellitus, Pneum... |
ORPHA:36238 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Ketonuria, Apnea, Hypotonia, Opisthotonus, Acute hepatic steatosis, Generalized hypotonia, Elevat... |
OMIM:210200 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Diabetes mellitus, Dysp... |
ORPHA:140896 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Hypergonadotropic hypogonadism, Parkinsonism, Rigidity, Slurred speech, Hand trem... |
OMIM:157640 |
Lipodystrophy, Partial, Acquired, Susceptibility To |
|
Membranoproliferative glomerulonephritis, Proteinuria, Diabetes mellitus, Polycystic ovaries, Hem... |
OMIM:608709 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress, Hepatomegaly, Ketonuria, Hypotonia, Methylmalonic aciduria, Generalized hyp... |
OMIM:251110 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Acute hepatic failure, Respiratory distress, Hepatocellular carcinoma, Microvesicular hepatic ste... |
OMIM:256810 |
Combined Oxidative Phosphorylation Deficiency 9 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Dyspnea, Elevated ci... |
OMIM:614582 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive, Tubulointerstitia... |
OMIM:263000 |
Combined Oxidative Phosphorylation Deficiency 34 |
|
Hepatomegaly, Hypergonadotropic hypogonadism, Elevated circulating thyroid-stimulating hormone co... |
OMIM:617872 |
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Dystonia, Portal hypertension, Rigidity, Splenomegal... |
ORPHA:309854 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 6 |
|
Lower limb spasticity, Hepatic steatosis, Hypotonia |
OMIM:615119 |
Wilson Disease |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Aggressive behavior, Splenome... |
ORPHA:905 |
Infantile Liver Failure Syndrome 1 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Hypotonia, Generalized hypoto... |
OMIM:615438 |
Caribbean Parkinsonism |
|
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... |
ORPHA:97355 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Cerebellar atrophy, Neonatal respiratory distress, Death in infancy, Apnea,... |
OMIM:618426 |
3-Hydroxyacyl-Coa Dehydrogenase Deficiency |
|
Fulminant hepatic failure, Dicarboxylic aciduria, Hypotonia, Hepatic necrosis, Generalized hypoto... |
OMIM:231530 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Hepatomegaly, Ketonuria, Elevated urine 3-hydroxypropionic acid level, Trem... |
OMIM:251100 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Cerebellar atrophy, Ataxia, Tremor, Recurrent pneumonia, Hypotonia, Cerebra... |
OMIM:616271 |
Thyroid Lymphoma |
|
Respiratory distress, Hyperthyroidism, Dyspnea, Upper airway obstruction, Stridor, Dysphagia, Hyp... |
ORPHA:97285 |
Mitochondrial Complex I Deficiency, Nuclear Type 29 |
|
Failure to thrive, Dyspnea, Stage 5 chronic kidney disease, Lacticaciduria, Decreased activity of... |
OMIM:618250 |
Congenital Disorder Of Glycosylation, Type Iir |
|
Elevated hepatic transaminase, Hepatomegaly, Hypospadias, Jaundice, Micronodular cirrhosis, Decre... |
OMIM:301045 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Reduced forced vital capacity, Mitochondrial hypertrophy, Failure to thrive, Respiratory insuffic... |
OMIM:619518 |
Macrocephaly-Intellectual Disability-Autism Syndrome |
|
Penile freckling, Hurthle cell thyroid adenoma, Hypotonia, Thyroid carcinoma, Attention deficit h... |
ORPHA:210548 |
Waisman Syndrome |
|
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... |
OMIM:311510 |
Cholesteryl Ester Storage Disease |
|
Acute hepatic failure, Hepatomegaly, Failure to thrive, Death in infancy, Elevated circulating as... |
OMIM:278000 |
N Syndrome |
|
Cryptorchidism, Abnormality of chromosome stability, Hypospadias, Spasticity |
OMIM:310465 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Hepatomegaly, Stage 5 chronic kidney disease, Methylmalonic aciduria, Hypot... |
OMIM:251000 |
Parkinson Disease 20, Early-Onset |
|
Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Dysphagia, Bradykinesia, D... |
OMIM:615530 |
3-Methylglutaconic Aciduria, Type V |
|
Hypospadias, Elevated circulating aspartate aminotransferase concentration, Ataxia, Microvesicula... |
OMIM:610198 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Cerebral palsy, Epistaxis, Spastic paraplegia, Nephrolithiasis, Abnormal cir... |
ORPHA:369929 |
Mitochondrial Complex I Deficiency, Nuclear Type 9 |
|
Hypoventilation, Severe muscular hypotonia, Breathing dysregulation, Neonatal death, Decreased ac... |
OMIM:618232 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... |
ORPHA:264675 |
Young-Onset Parkinson Disease |
|
Restless legs, Impulsivity, Rigidity, Tremor, Bradykinesia, Agitation, Dystonia, Spasticity |
ORPHA:2828 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Restlessness, Cerebellar atrophy, Hypertonia, Generalized hypotonia, Spasti... |
ORPHA:544503 |
Moebius Syndrome |
|
Respiratory distress, Hypogonadotropic hypogonadism, Poor coordination, Dysphagia, Clumsiness, Dy... |
OMIM:157900 |
Mitochondrial Complex I Deficiency, Nuclear Type 20 |
|
Elevated hepatic transaminase, Death in infancy, Dicarboxylic aciduria, Microvesicular hepatic st... |
OMIM:611126 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, GM2-gangl... |
OMIM:272750 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Mitochondrial swelling, Vocal cord paralysis, Dysphagia |
ORPHA:397744 |
Nipah Virus Disease |
|
Respiratory distress, Anorexia, Tremor, Myoclonus, Cough |
ORPHA:99825 |
Carnitine Palmitoyltransferase I Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Elevated circulating aspartat... |
OMIM:255120 |
Bardet-Biedl Syndrome 19 |
|
Renal insufficiency, Renal hypoplasia, Obesity, Hypogonadism, Hepatic steatosis, Hydronephrosis |
OMIM:615996 |
Multiple System Atrophy 1, Susceptibility To |
|
Ataxia, Urinary incontinence, Parkinsonism, Tremor, Rigidity, Babinski sign, Urinary urgency, Bra... |
OMIM:146500 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Cerebellar atrophy, Decreased activity of mitochondrial complex IV, Hypotonia, Focal segmental gl... |
OMIM:616239 |
Rajab Interstitial Lung Disease With Brain Calcifications 2 |
|
Elevated hepatic transaminase, Hypothyroidism, Hepatosplenomegaly, Restrictive ventilatory defect... |
OMIM:619013 |
Interstitial Lung And Liver Disease |
|
Hepatomegaly, Failure to thrive, Elevated circulating aspartate aminotransferase concentration, D... |
OMIM:615486 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Adrenomyodystrophy |
|
Primary adrenal insufficiency, Hypotonia, Megacystis, Failure to thrive, Hepatic steatosis |
ORPHA:977 |
Tetanus |
|
Respiratory distress, Elevated urinary norepinephrine level, Rigidity, Tremor, Tachypnea, Elevate... |
ORPHA:3299 |
Parkinson Disease 8, Autosomal Dominant |
|
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... |
OMIM:607060 |
Diarrhea 13 |
|
Elevated hepatic transaminase, Failure to thrive, Hepatic steatosis |
OMIM:620357 |
Dietary Iron Overload Disease |
|
Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Micronodular cirrhosi... |
ORPHA:139507 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Abnormal motor neuron morpholo... |
ORPHA:52430 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Severe muscular hypoton... |
ORPHA:596 |
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Fasting hyperinsulin... |
ORPHA:71212 |
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperglycinuria, Hypotonia, Medium chain dicarboxyli... |
OMIM:201450 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Axial hypotonia, Hypotonia, Respiratory insuff... |
OMIM:618329 |
Supranuclear Palsy, Progressive, 1 |
|
Axial dystonia, Eyelid apraxia, Parkinsonism, Rigidity, Tremor, Dysphagia, Granulovacuolar degene... |
OMIM:601104 |
Kufor-Rakeb Syndrome |
|
Eyelid apraxia, Oculogyric crisis, Urinary incontinence, Parkinsonism, Rigidity, Upper motor neur... |
ORPHA:306674 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami... |
ORPHA:2131 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia, Decreased response t... |
OMIM:245590 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Hepatomegaly, Hyperphosphaturia, Proteinuria, Ataxia, Spastic tetraparesis, Respiratory insuffici... |
ORPHA:436271 |
Dpm1-Cdg |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Ataxia, Cerebral atrophy, Hepato... |
ORPHA:79322 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea, Hypotonia |
OMIM:614669 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Large for gestational age, Decreased circulating T4 concentration, Elevated... |
ORPHA:226313 |
Avian Influenza |
|
Elevated hepatic transaminase, Respiratory distress, Miscarriage, Pneumonia, Productive cough, No... |
ORPHA:454836 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Elevated hepatic transaminase, Hypogonadotropic hypogonadism, Hypergonadotropic hypogonadism, Cac... |
ORPHA:298 |
Citrullinemia Type Ii |
|
Elevated hepatic transaminase, Hepatomegaly, Hyperactivity, Restlessness, Decreased body mass ind... |
ORPHA:247585 |
Parkinson Disease 18, Autosomal Dominant, Susceptibility To |
|
Rigidity, Resting tremor, Bradykinesia, Parkinsonism |
OMIM:614251 |
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency |
|
Decreased muscle glycogen content, Diabetes mellitus, Increased mitochondrial number, Hypothyroid... |
ORPHA:263297 |
Parkinson Disease 21 |
|
Rigidity, Tremor, Bradykinesia, Parkinsonism |
OMIM:616361 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Dilated Cardiomyopathy With Ataxia |
|
Elevated hepatic transaminase, Lower limb spasticity, Hypoplasia of penis, Ataxia, Bilateral cryp... |
ORPHA:66634 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Acute hepatic failure, Microvesicular hepatic steatosis, Cerebral cortical neurodegeneration, Hyp... |
OMIM:203700 |
Malaria |
|
Respiratory distress, Acute kidney injury |
ORPHA:673 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Barth Syndrome |
|
Failure to thrive, 3-Methylglutaconic aciduria, Abnormal mitochondrial morphology |
OMIM:302060 |
Familial Partial Lipodystrophy, Köbberling Type |
|
Hepatomegaly, Diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Hepatic steatosis, Pancrea... |
ORPHA:79084 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Hepatomegaly, Failure to thrive, Dystonia, Apnea, Ataxia, Abnormality of Krebs cycle metabolism, ... |
ORPHA:255210 |
Cimdag Syndrome |
|
Hepatomegaly, Death in early adulthood, Ataxia, Microvesicular hepatic steatosis, Chorea, Hypoton... |
OMIM:619273 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Hepatomegaly, Renal insufficiency, Dicarboxylic aciduria, Neonatal respiratory distress, Red-brow... |
ORPHA:228308 |
Episodic Ataxia Type 1 |
|
Respiratory distress, Cerebellar atrophy, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia |
ORPHA:37612 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Failure to thrive, Hypotonia |
ORPHA:261304 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Increased urinary glycerol, In... |
ORPHA:348 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Plin1-Related Familial Partial Lipodystrophy |
|
Hyperinsulinemia, Abnormal circulating hormone concentration, Polycystic ovaries, Insulin-resista... |
ORPHA:280356 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Severe muscular hypotonia, Recurren... |
ORPHA:314655 |
Supranuclear Palsy, Progressive, 2 |
|
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Granulovacuolar degenera... |
OMIM:609454 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Elevated hepatic transaminase, Cerebellar atrophy, Axial hypotonia, Ataxia, Cholangitis, Microves... |
OMIM:124000 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Abnormal respiratory motile cili... |
ORPHA:922 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Hypospadias, Small for gestational age, Cryptorchidism, Recurrent pneumonia... |
OMIM:607143 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Hepatomegaly, Splenomegaly, Chronic pulmonary obstruction, Cough, Pulmonary... |
ORPHA:2414 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Hepatomegaly, Proteinuria, Splenomegaly, Recurrent pneumonia, Hypotonia, Ne... |
OMIM:617303 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age |
ORPHA:45452 |
Muscular Dystrophy, Congenital, Megaconial Type |
|
Mitochondrial hypertrophy, Generalized hypotonia |
OMIM:602541 |
Acute Lung Injury |
|
Respiratory distress, Acute pancreatitis, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory f... |
ORPHA:178320 |
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy |
|
Small for gestational age, Elevated circulating aspartate aminotransferase concentration, Intrahe... |
OMIM:617093 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Death in infancy, Proteinuria, H... |
OMIM:212065 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Neonatal hypotonia, Cough |
ORPHA:86812 |
Infantile Krabbe Disease |
|
Respiratory distress, Lower limb spasticity, Diffuse cerebral atrophy, Cachexia, Spastic diplegia... |
ORPHA:206436 |
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay |
|
Tremor, Exocrine pancreatic insufficiency, Dyspnea, Decreased activity of mitochondrial complex I... |
OMIM:616539 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
|
Elevated hepatic transaminase, Hepatomegaly, Chorea, Truncal ataxia, Restrictive ventilatory defe... |
ORPHA:369840 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Dicarboxylic aciduria, Hypotonia, Cardiorespiratory ... |
OMIM:212138 |
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome |
|
Insulin-resistant diabetes mellitus, Primary gonadal insufficiency, Hepatic steatosis |
ORPHA:436182 |
Congenital Disorder Of Glycosylation, Type It |
|
Elevated hepatic transaminase, Hepatomegaly, Decreased serum insulin-like growth factor 1, Elevat... |
OMIM:614921 |
Mercury Poisoning |
|
Respiratory distress, Anorexia, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, D... |
ORPHA:330021 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Hepatomegaly, Ketonuria, Apnea, Elevated circulating alanine aminotransferase concentration, Cere... |
OMIM:261680 |
Acquired Partial Lipodystrophy |
|
Microscopic hematuria, Hepatic steatosis, Proteinuria |
ORPHA:79087 |
Acyl-Coa Dehydrogenase 9 Deficiency |
|
Acute hepatic failure, Elevated hepatic transaminase, Dicarboxylic aciduria, Generalized hypotoni... |
ORPHA:99901 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Epistaxis, Abnormal circulating renin, Dexamethasone-suppressible primary hy... |
ORPHA:403 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Small for gestational age, Epi... |
ORPHA:26793 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201710 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Hypoparathyroidism, Hypotonia, Abnormal circulating calcium-phosphate regul... |
ORPHA:50810 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Intrahepatic biliary dysgenesis, Hepatomegaly, Apnea, Cryptorchidism, Jaundice, Hypotonia, Death ... |
OMIM:214110 |
Hypermethioninemia Due To Adenosine Kinase Deficiency |
|
Elevated circulating alanine aminotransferase concentration, Hypotonia, Cholestasis, Cerebral atr... |
OMIM:614300 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating ACTH concentration, Truncal obesity, Increased circula... |
OMIM:219080 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating cortisol level, Hypospadias, Renal salt wasting, Increased circulating andr... |
ORPHA:90791 |
19P13.12 Microdeletion Syndrome |
|
Hyperactivity, Hypospadias, Precocious puberty, Hypothyroidism, Cryptorchidism, Hypotonia, Obesit... |
ORPHA:254346 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations |
ORPHA:1143 |
Mitochondrial Trifunctional Protein Deficiency |
|
Hypoparathyroidism, Failure to thrive in infancy, Babinski sign, Hypotonia, Respiratory insuffici... |
ORPHA:746 |
Wilson Disease |
|
Acute hepatic failure, Tremor, Hand tremor, Aminoaciduria, Limb dystonia, Hepatic steatosis, Hypo... |
OMIM:277900 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Micropenis, De... |
ORPHA:90793 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Oral-pharyngeal dysphagia, Chorea, Dysmetria, Hepatic fibrosis, Chondroitin... |
OMIM:615273 |
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial |
|
Hepatic failure, Hepatic steatosis |
OMIM:261650 |
Congenital Bile Acid Synthesis Defect Type 2 |
|
Elevated hepatic transaminase, Giant cell hepatitis, Hepatomegaly, Dark urine, Failure to thrive,... |
ORPHA:79303 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Ketonuria, Apnea, Ataxia, Anorex... |
ORPHA:20 |
Farber Disease |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Intrahepatic cholestasis ... |
ORPHA:333 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Increased sarcoplasmic glycogen, Splenomegaly, Hepat... |
ORPHA:264580 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Hypercalci... |
ORPHA:251274 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Elevated hepatic transaminase, Respiratory distress, Failure to thrive, Death in infancy, 4-hydro... |
OMIM:617156 |
Lipodystrophy, Familial Partial, Type 4 |
|
Insulin-resistant diabetes mellitus, Miscarriage, Hepatic steatosis |
OMIM:613877 |
Hemochromatosis, Type 4 |
|
Hepatomegaly, Diabetes mellitus, Hepatic steatosis, Cirrhosis |
OMIM:606069 |
Japanese Encephalitis |
|
Respiratory distress, Weakness due to upper motor neuron dysfunction, Anorexia, Paralysis, Tremor... |
ORPHA:79139 |
Rotor Syndrome |
|
Bilirubinuria, Jaundice, Porphyrinuria, Intermittent jaundice, Storage in hepatocytes |
ORPHA:3111 |
Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea, Abnormal respiratory sys... |
ORPHA:803 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Dystonia, Apnea, Clonus, Tremor, Jaundice, Hypotonia, Cerebral atrophy, Hypopne... |
OMIM:617248 |
Triokinase And Fmn Cyclase Deficiency Syndrome |
|
Hepatomegaly, Failure to thrive in infancy, Elevated circulating alanine aminotransferase concent... |
OMIM:618805 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Facial hy... |
ORPHA:308552 |
Alstrom Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Renal insufficiency, Chronic active hepatitis, Hyper... |
OMIM:203800 |
Arima Syndrome |
|
Hepatomegaly, Proteinuria, Polyuria, Ataxia, Dyspnea, Tachypnea, Stage 5 chronic kidney disease, ... |
OMIM:243910 |
Sialuria |
|
Elevated hepatic transaminase, Hepatomegaly, Upper airway obstruction, Hepatosplenomegaly, Hyperk... |
ORPHA:3166 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Hepatomegaly, Decreased body weight, Apnea, Splenomegaly, Hepatosplenomegal... |
OMIM:608013 |
Diaphanospondylodysostosis |
|
Respiratory distress, Multiple renal cysts |
ORPHA:66637 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Elevated hepatic transaminase, Hepatomegaly, Speech apraxia, Cerebellar atrophy, Ataxia, Tremor, ... |
OMIM:615356 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Cerebellar atrophy, Axial hypotonia, Pneumothorax, Glandular hypospadias, C... |
OMIM:620306 |
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form |
|
Elevated hepatic transaminase, Hepatomegaly, Red-brown urine, Decreased plasma total carnitine, D... |
ORPHA:228305 |
Carnitine Palmitoyltransferase Ii Deficiency, Infantile |
|
Elevated hepatic transaminase, Hepatomegaly, Macrovesicular hepatic steatosis, Respiratory arrest... |
OMIM:600649 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Hypospadias, Cryptorchidism, Hypotonia, Gene... |
OMIM:217980 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Maternal diabetes, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, As... |
ORPHA:70588 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Hepatomegaly, Hypotonia, Gait ataxia, Attention deficit hyperactivity disorder |
OMIM:619383 |
Diaphanospondylodysostosis |
|
Respiratory distress, Hypotonia, Horseshoe kidney, Respiratory insufficiency, Abnormal liver lobu... |
OMIM:608022 |
Growth Delay-Intellectual Disability-Hepatopathy Syndrome |
|
Elevated hepatic transaminase, Diabetes mellitus, Hypotonia, Cholestasis, Hepatosplenomegaly, Hep... |
ORPHA:541423 |
Gracile Syndrome |
|
Death in early adulthood, Cholestasis, Renal Fanconi syndrome, Cirrhosis, Elevated hepatic iron c... |
ORPHA:53693 |
Lipodystrophy, Congenital Generalized, Type 3 |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Hepatosplenomegaly, Hepatic steatosis |
OMIM:612526 |
Idiopathic Copper-Associated Cirrhosis |
|
Increased urinary copper concentration, Hepatic steatosis, Copper accumulation in liver, Cirrhosis |
ORPHA:209919 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Absent inner and outer dynein arms, Immotile cil... |
OMIM:606763 |
D-Bifunctional Protein Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Cerebellar atrophy, Very long chain fatty acid accum... |
OMIM:261515 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Hypospadias, Adrenogenital syndrome, Renal salt wasting |
OMIM:201910 |
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease |
|
Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr... |
ORPHA:189427 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Generalized hypotonia, Failure... |
ORPHA:329178 |
Aicardi-Goutieres Syndrome 7 |
|
Cerebellar atrophy, Hepatomegaly, Lower limb spasticity, Axial hypotonia, Pneumonia, Spastic tetr... |
OMIM:615846 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Epistaxis, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal c... |
ORPHA:404 |
Adnp Syndrome |
|
Respiratory distress, Urinary incontinence, Oral-pharyngeal dysphagia, Aggressive behavior, Crypt... |
ORPHA:404448 |
Patent Ductus Venosus |
|
Hepatic steatosis, Decreased liver function |
OMIM:601466 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Supernumerary nipple, Cryptorchidism, Congenital hypothyroidism, Infantile ... |
ORPHA:2519 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Hypotonia, Respiratory insu... |
ORPHA:98915 |
Lipodystrophy, Familial Partial, Type 6 |
|
Abdominal obesity, Diabetes mellitus, Hepatic steatosis |
OMIM:615980 |
Porphyria Cutanea Tarda |
|
Elevated hepatic transaminase, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Port... |
ORPHA:101330 |
Citrullinemia, Type Ii, Adult-Onset |
|
Portal inflammation, Elevated circulating alanine aminotransferase concentration, Ballooning hepa... |
OMIM:603471 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Neonatal hypotonia, Severe muscular hypotonia, Hypogonadotropic hypogonadis... |
ORPHA:177907 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1 |
|
Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Ataxia, Hypothyroidism,... |
OMIM:616263 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Elevated hepatic transaminase, Apnea, Severe muscular hypotonia, Renal cyst, Multiple renal cysts... |
OMIM:614883 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Diabetes mellitus, Cryptorchidism, Elevated circulat... |
OMIM:615381 |
Infantile Liver Failure Syndrome 3 |
|
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Splenomegaly, Jaundice, Chole... |
OMIM:618641 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Hepatomegaly, Axial hypotonia, Microvesicular hepatic steatosis, Tachypnea, Respiratory insuffici... |
OMIM:618278 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Elevated hepatic transaminase, Neoplasm of the pancreas, Decreased serum testosterone concentrati... |
ORPHA:2959 |
Autoimmune Polyendocrinopathy Type 1 |
|
Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc... |
ORPHA:3453 |
Esophageal Atresia |
|
Respiratory distress, Vocal cord paresis, Small for gestational age, Failure to thrive in infancy... |
ORPHA:1199 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Elevated hepatic transaminase, Axial hypotonia, Small for gestational age, Slender build, Portal ... |
OMIM:613658 |
Mogs-Cdg |
|
Respiratory distress, Hepatomegaly, Hypoventilation, Dystonia, Apnea, Hepatosplenomegaly, Hydroce... |
ORPHA:79330 |
Immunodeficiency 47 |
|
Accessory spleen, Hepatomegaly, Elevated hepatic transaminase, Failure to thrive, Death in infanc... |
OMIM:300972 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Accessory spleen, Hepatomegaly, Failure to thrive in infancy, Microvesicular hepatic steatosis, S... |
OMIM:619418 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy, Polycystic kidney dysplasia, Nephronophthisis |
OMIM:184260 |
Bloom Syndrome |
|
Chromosome breakage, Abnormality of chromosome stability, Small for gestational age, Cryptorchidi... |
OMIM:210900 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Diabetes mellitus, Adrenal hyperplasia, Increased body weight, Increased circulating cortisol lev... |
OMIM:615830 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Pneumonia, Jaundice, Increased circula... |
ORPHA:90790 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hepatomegaly, Lower limb spasticity, Axial hypotonia, Death in infancy, Large for gestational age... |
OMIM:300868 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Degeneration of anterior horn cells, Generalized hypotonia |
OMIM:271225 |
Sepsis In Premature Infants |
|
Hepatomegaly, Small for gestational age, Abnormal mucociliary clearance, Splenomegaly, Jaundice, ... |
ORPHA:90051 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Exaggerated startle response, Facial hypotonia, Severe muscular hypotonia, ... |
ORPHA:438216 |
Pearson Syndrome |
|
Decreased response to growth hormone stimulation test, Renal cyst, Abnormality of the liver, Hypo... |
ORPHA:699 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Polyuria, Hypercalciuria, Hyperaldosteronism, Polydipsia, Decreased circulat... |
OMIM:613677 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... |
OMIM:164310 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Multiple renal cysts, Generalized hypotonia, Reduced renal corticomedullary... |
OMIM:618733 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Epistaxis, Increased urinary potassium, Glucocortocoid-insensitive primary h... |
ORPHA:231580 |
Congenital Myasthenic Syndrome |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insufficiency due to muscle w... |
ORPHA:98914 |
Chitayat Syndrome |
|
Respiratory distress, Generalized hypotonia, Tracheomalacia |
OMIM:617180 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Renal insufficiency, Ketonuria, Ataxia, Pulmonary embolism, Hemolytic-uremi... |
ORPHA:79282 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Clonus, Hypertonia, Tics, Compulsive behaviors, Micropenis, Decreased body weight, Abnormal repet... |
OMIM:619475 |
Congenital Generalized Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Precocious puberty in females, Hyperinsulinemia, Polycystic ovar... |
ORPHA:528 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased body weight... |
OMIM:615954 |
Autoimmune Hepatitis |
|
Elevated hepatic transaminase, Viral hepatitis, Diffuse hepatic steatosis, Glomerulonephritis, Sp... |
ORPHA:2137 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Q Fever |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Pneumonia, Anorexia, Splenomeg... |
ORPHA:781 |
Hypoglossia With Situs Inversus |
|
Asplenia, Upper airway obstruction, Respiratory distress, Polysplenia |
OMIM:612776 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Hypotonia, Death in childhood, Respiratory failure, Chylo... |
OMIM:620278 |
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Microvesicular hepatic steatosis, Chorea, Hepatomegaly, Micronodular cirrhosis, Athetosis, Myoclo... |
ORPHA:404454 |
Smith-Lemli-Opitz Syndrome |
|
Diffuse cerebral atrophy, Partial agenesis of the corpus callosum, Renal cyst, Hypertonia, Genera... |
OMIM:270400 |
Mgat2-Cdg |
|
Respiratory distress, Abnormality of the endocrine system, Hypotonia, Hypoplastic nipples, Genera... |
ORPHA:79329 |
Lipodystrophy, Familial Partial, Type 3 |
|
Maternal diabetes, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycystic ovaries, Typ... |
OMIM:604367 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Hepatomegaly, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle ... |
ORPHA:365 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Ketonuria, Hypospadias, Dystonia, Small for gestational age, Ataxia, Tremor, Mi... |
OMIM:220111 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... |
ORPHA:137914 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Respiratory distress, ... |
ORPHA:537 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Ataxia, Hypotonia, Organic aciduria, Spastic paraparesis, Lethargy, ... |
ORPHA:79241 |
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type) |
|
Fulminant hepatic failure, Hepatomegaly, Elevated circulating aspartate aminotransferase concentr... |
OMIM:618528 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Lateral ventricle dilatation, Agenesis of corpus callosum, Hypotonia |
OMIM:612863 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Micronodular cirrhosis, Obesity, Central ner... |
ORPHA:98907 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Hydrocele testis, Miscarriage, Congenital adrenal hyperplasia, Increased serum testosterone level |
ORPHA:96181 |
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency |
|
Hepatitis, Cholestasis, Obesity, Acute hepatic steatosis, Cholesterol gallstones, Macrovesicular ... |
ORPHA:209902 |
Shwachman-Diamond Syndrome 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Respiratory distress, Neonatal respiratory distress,... |
OMIM:260400 |
Gitelman Syndrome |
|
Respiratory distress, Urinary incontinence, Maternal diabetes, Decreased urinary potassium, Tubul... |
ORPHA:358 |
Pparg-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Diabetes mellitus, Maternal diabetes, Splenomegaly, Insulin-resistant diabetes mell... |
ORPHA:79083 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure, Generalized hypotonia |
OMIM:617895 |
Osteootohepatoenteric Syndrome |
|
Proteinuria, Microvesicular hepatic steatosis, Asthma, Grade II vesicoureteral reflux, Cholestasi... |
OMIM:619377 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Renal cyst, Pheochromocytoma, Carcinoid tumor, ... |
ORPHA:805 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Hyperthyroidism, Failure to thrive in infanc... |
ORPHA:37042 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Large for gestational age, Dyspnea, Hypotonia, Hemiparesis, Pulmonary arter... |
ORPHA:363705 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Urinary incontinence, Respiratory failure, Neonatal death, P... |
OMIM:616482 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive |
ORPHA:2707 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Agenesis of corpus callosum, Tracheomalacia |
OMIM:202650 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulating dehydroepiandros... |
ORPHA:95699 |
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency |
|
Adrenal hyperplasia, Hypospadias, Scrotal hypospadias, Cryptorchidism, Increased circulating dehy... |
OMIM:201810 |
Parenteral Nutrition-Associated Cholestasis |
|
Elevated hepatic transaminase, Hepatomegaly, Small for gestational age, Portal hypertension, Bili... |
ORPHA:567983 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level |
OMIM:103900 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Elevated hepatic transaminase, Hepatomegaly, Splenomegaly, Recurrent pneumonia, Hyperinsulinemia,... |
OMIM:613327 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Hypoplasia of penis, Agenesis of corpus callosum |
ORPHA:990 |
Chanarin-Dorfman Syndrome |
|
Hepatomegaly, Hepatic steatosis, Ataxia |
OMIM:275630 |
1P36 Deletion Syndrome |
|
Hypoplasia of penis, Abnormality of the spleen, Renal cyst, Abnormality of the liver, Abnormal re... |
ORPHA:1606 |
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency |
|
Hepatic steatosis, Methioninuria, Failure to thrive, Homocystinuria, Pancreatitis |
OMIM:236200 |
Lujo Hemorrhagic Fever |
|
Elevated hepatic transaminase, Respiratory distress, Renal insufficiency, Resting tremor, Crackle... |
ORPHA:319213 |
Fanconi-Bickel Syndrome |
|
Hepatomegaly, Hyperphosphaturia, Failure to thrive, Diabetes mellitus, Elevated circulating aspar... |
ORPHA:2088 |
Tetrasomy 5P |
|
Respiratory distress, Pulmonary arterial hypertension, Neonatal hypotonia, Failure to thrive |
ORPHA:3309 |
Nocardiosis |
|
Respiratory distress, Liver abscess, Pneumonia, Anorexia, Productive cough, Nonproductive cough, ... |
ORPHA:31204 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Anuria, Acute tubulointerstitial nephritis, Tubulointerstitial nephritis, C... |
ORPHA:340 |
Akt2-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:79085 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Aggressive behavior, Asthma, Nasal flaring, Poor coordination, Obesity, Self-injurious behavior, ... |
ORPHA:466943 |
Cidec-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435651 |
Lipodystrophy, Familial Partial, Type 5 |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Diabetic ketoacidosis, Hepatic... |
OMIM:615238 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Proteinuria, Heparan sulfate excretion in urine, Hypotonia, Hepatosplenomeg... |
ORPHA:505248 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Proteinuria, Hemolytic-uremic syndrome, Tremor, Jaundice, Prolonged neonata... |
OMIM:274150 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Increased circulating cortisol level, Adrenal hyperplasia |
OMIM:614190 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Oxoglutaric Aciduria |
|
Ataxia, Abnormality of Krebs cycle metabolism, Hypertonia, Abnormal urine alpha-ketoglutarate con... |
ORPHA:31 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Hepatomegaly, Diabetes mellitus, Splenomegaly, Polycystic ovaries, Hepatic steatosis, Pancreatitis |
ORPHA:2348 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Elevated hepatic transaminase, Multicystic kidney dysplasia, Renal insufficiency, Hypospadias, Di... |
ORPHA:93111 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Neutral Lipid Storage Myopathy |
|
Elevated hepatic transaminase, Hepatomegaly, Very long chain fatty acid accumulation, Diabetes me... |
ORPHA:98908 |
Complete Atrioventricular Septal Defect |
|
Hepatomegaly, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevat... |
ORPHA:1329 |
Cocaine Intoxication |
|
Respiratory distress, Proteinuria, Glomerulonephritis, Involuntary movements, Tremor, Wheezing, T... |
ORPHA:90068 |
Lysosomal Acid Lipase Deficiency |
|
Elevated hepatic transaminase, Fatal liver failure in infancy, Failure to thrive, Adrenal calcifi... |
ORPHA:275761 |
Abetalipoproteinemia |
|
Elevated hepatic transaminase, Hepatomegaly, Ataxia, Hypothyroidism, Babinski sign, Dysmetria, Ga... |
ORPHA:14 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Nephrolithiasis, Generalized hypotonia, Death in child... |
OMIM:613848 |
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib |
|
Hepatomegaly, Failure to thrive, Proteinuria, Epistaxis, Hypothyroidism, Delayed puberty, Hepatoc... |
ORPHA:79259 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress |
OMIM:617102 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Hepatic steatosis, Epistaxis, Obesity |
ORPHA:96168 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Listeriosis |
|
Respiratory distress, Liver abscess, Ataxia, Pneumonia, Miscarriage, Tremor, Jaundice, Peritoniti... |
ORPHA:533 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Chylomicron Retention Disease |
|
Elevated hepatic transaminase, Increased hepatocellular lipid droplets, Failure to thrive, Hepati... |
ORPHA:71 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Renal insufficiency, Sinusitis, Glomerulonephritis, Pneumonia, Peritonitis,... |
ORPHA:36234 |
Ethylene Glycol Poisoning |
|
Renal insufficiency, Ataxia, Abnormal pattern of respiration, Tachypnea, Episodic respiratory dis... |
ORPHA:31826 |
Lipe-Related Familial Partial Lipodystrophy |
|
Hepatomegaly, Decreased adiponectin level, Decreased serum leptin, Insulin-resistant diabetes mel... |
ORPHA:435660 |
Congenital Enterovirus Infection |
|
Respiratory distress, Hepatitis, Cholestasis, Pleural effusion, Hepatic failure |
ORPHA:292 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Splenomegaly, Hepatomegaly, Failure to thrive in infancy, Respiratory distress |
OMIM:612852 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormality of thyroid physiology, Generalized hypotonia, Unilateral breast... |
OMIM:300968 |
Idiopathic Hypereosinophilic Syndrome |
|
Elevated hepatic transaminase, Respiratory distress, Cholangitis, Pulmonary embolism, Splenomegal... |
ORPHA:3260 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Streak ovary, Hypospadias, Failure to thrive in infancy, Recurrent pneumoni... |
ORPHA:798 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea, Abnormal sweat gland morphology |
ORPHA:247257 |
Liver Disease, Severe Congenital |
|
Biliary hyperplasia, Aminoaciduria, Cough, Elevated hepatic iron concentration, Pancreatic hypopl... |
OMIM:619991 |
Familial Chylomicronemia Syndrome |
|
Acute pancreatitis, Diabetes mellitus, Pulmonary embolism, Jaundice, Hepatosplenomegaly, Recurren... |
ORPHA:444490 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Hypotonia, Generalized hypotonia |
OMIM:183900 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Axial hypotonia, Dystonia, Bilateral cryptor... |
OMIM:616268 |
Rubinstein-Taybi Syndrome 1 |
|
Accessory spleen, Respiratory distress, Hyperactivity, Incoordination, Hypospadias, Small for ges... |
OMIM:180849 |
Radio-Renal Syndrome |
|
Respiratory distress, Multicystic kidney dysplasia, Dyspnea, Respiratory failure, Chylothorax, Pl... |
ORPHA:3015 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Upper airway obstruction, Infantile muscular hypotonia |
OMIM:100800 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Hyperparathyroidism, Unilateral renal agenesis, Ovarian cyst, Splenic cyst,... |
OMIM:618188 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Small for gestational age, Cryptorchidism, Emphysema, Mic... |
OMIM:224690 |
Immunodeficiency 40 |
|
Hepatomegaly, Elevated circulating aspartate aminotransferase concentration, Recurrent pneumonia,... |
OMIM:616433 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Hepatomegaly, Hypotonia, Pleural effusion, Frequent falls |
OMIM:620369 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Abnormality of the pancreas, Cryptorchidism |
ORPHA:1555 |
Ogden Syndrome |
|
Global glomerulosclerosis, Torticollis, Apnea, Maternal diabetes, Microvesicular hepatic steatosi... |
OMIM:300855 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress, Ureteral duplication, Failure to thrive, Small for gestational age, Neonata... |
ORPHA:2255 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Diabetes mellitus, Decreased ser... |
OMIM:608594 |
Generalized Glucocorticoid Resistance Syndrome |
|
Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ... |
ORPHA:786 |
Fructose Intolerance, Hereditary |
|
Elevated hepatic transaminase, Hepatomegaly, Transient aminoaciduria, Hyperphosphaturia, Jaundice... |
OMIM:229600 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Hepatomegaly, Failure to thrive, Diffuse cerebral atrophy, Biliary hyperpla... |
ORPHA:83617 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Absent gallbladder, Asplenia, Pulmonary arterial hypertension, Annular panc... |
ORPHA:210122 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Peritonitis, Cirrhosis, Cough, Pleural effusion, Cerebr... |
ORPHA:1546 |
Acquired Generalized Lipodystrophy |
|
Hepatomegaly, Acute pancreatitis, Proteinuria, Insulin-resistant diabetes mellitus, Hyperinsuline... |
ORPHA:79086 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Urethral stricture, Respiratory distress, Multicystic kidney dysplasia, Hydroureter, Dysuria, Pne... |
ORPHA:79404 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Congenital adrenal hyperplasia, Long penis, Decreased circulating aldosterone level, Adrenogenita... |
OMIM:202010 |
Congenital Disorder Of Glycosylation, Type Iiw |
|
Elevated hepatic transaminase, Hepatomegaly, Failure to thrive, Membranoproliferative glomerulone... |
OMIM:619525 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Hypoplasia of penis, Hypospadias, Epispadias, Dyspnea, Cryptorchidism, Resp... |
ORPHA:2554 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Neonatal hypotonia, Torticollis, Repeated pneumothoraces, Hypotonia, Respir... |
ORPHA:536467 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Severe failure to thrive, Self-mutilation, Decreased body weight |
ORPHA:1051 |
Citrullinemia, Type Ii, Neonatal-Onset |
|
Elevated circulating aspartate aminotransferase concentration, Microvesicular hepatic steatosis, ... |
OMIM:605814 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Tracheomalacia, Horseshoe kidney, Vesicoureteral reflux, Hydronephrosis |
ORPHA:93260 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Elevated hepatic transaminase, Hepatomegaly, Acute pancreatitis, Decreased serum leptin, Splenome... |
OMIM:269700 |
Seckel Syndrome 10 |
|
Acute pancreatitis, Diabetes mellitus, Elevated circulating aspartate aminotransferase concentrat... |
OMIM:617253 |
Digeorge Syndrome |
|
Parathyroid hypoplasia, Abnormal thymus morphology, Hypoplasia of the thymus, Hypothyroidism, Hep... |
OMIM:188400 |
Pachyonychia Congenita |
|
Respiratory distress, Failure to thrive |
ORPHA:2309 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Hypospadias |
OMIM:123790 |
Coccidioidomycosis |
|
Respiratory distress, Renal insufficiency, Pneumonia, Abnormality of the endocrine system, Abnorm... |
ORPHA:228123 |
Dysbetalipoproteinemia |
|
Hepatomegaly, Acute pancreatitis, Hepatic steatosis, Diabetes mellitus, Obesity, Hypothyroidism |
ORPHA:412 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Hypotonia, Cardiorespiratory arrest, Respiratory failure |
ORPHA:3342 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Hepatomegaly, Dyspnea |
OMIM:115197 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Adrenal hyperplasia, Pancreatoblastoma, Anorexia, Pituitary corticotropic cell adenoma, Pancreati... |
ORPHA:99889 |
Auriculocondylar Syndrome |
|
Respiratory distress, Generalized hypotonia |
ORPHA:137888 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor, Dysphagia |
ORPHA:100050 |
Aromatase Deficiency |
|
Eunuchoid habitus, Macroorchidism, postpubertal, Hypergonadotropic hypogonadism, Enlarged polycys... |
ORPHA:91 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Hepatomegaly, Diabetes mellitus, Decreased adiponectin level, Decreased serum leptin, Splenomegal... |
ORPHA:280365 |
Hydrolethalus Syndrome 1 |
|
Accessory spleen, Hypospadias, Stillbirth, Adrenal gland dysgenesis, Agenesis of corpus callosum,... |
OMIM:236680 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Apnea, Decreased response to growth hormone stimulation test, Generalized hypotonia, Aspiration, ... |
OMIM:619503 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Hyperactivity, Ectopic posterior pituitary, Small for gestational age, Unil... |
ORPHA:508488 |
Alström Syndrome |
|
Respiratory distress, Urinary incontinence, Decreased response to growth hormone stimulation test... |
ORPHA:64 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormal penis morphology, Respiratory distress, Hypospadias, Epispadias, Dyspnea, Respiratory fa... |
ORPHA:2556 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Hypospadias, Hypotonia, Stridor, Trac... |
OMIM:114290 |
Wiedemann-Rautenstrauch Syndrome |
|
Decreased response to growth hormone stimulation test, Tremor, Wide penis, Hypertonia, Vesicouret... |
ORPHA:3455 |
Doors Syndrome |
|
Respiratory distress, Increased urine alpha-ketoglutarate concentration, Adrenal hyperplasia, Con... |
ORPHA:79500 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Hypotonia, Hepatic steatosis, Urinary incontinence, Attention deficit hyperactivity disorder |
OMIM:619934 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Hypospadias, Cryptorchidism, Chordee, Failure to thrive |
OMIM:166250 |
Cushing Disease |
|
Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c... |
ORPHA:96253 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress |
OMIM:610536 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Renal hypoplasia, Abdominal obesity, Hypoplasia of the ovary, Micropenis, Hepatic steatosis, Decr... |
OMIM:619321 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Adrenal gland agenesis, Hypospadias |
OMIM:611812 |
Immunodeficiency 87 And Autoimmunity |
|
Hepatomegaly, Small for gestational age, Elevated circulating aspartate aminotransferase concentr... |
OMIM:619573 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Ectopic kidney |
OMIM:613309 |
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency |
|
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Increased urinary glycerol, Failure to th... |
ORPHA:247598 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Renal insufficiency, Neonatal respiratory distress, Proteinuria, Respirator... |
OMIM:614748 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Hepatomegaly, Asplenia, Biliary atresia, Horseshoe kidney, Abdominal situs ... |
OMIM:306955 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Tracheomalacia |
ORPHA:93259 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Ect... |
ORPHA:99413 |
Turner Syndrome |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Ect... |
ORPHA:881 |
Mosaic Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Ect... |
ORPHA:99228 |
Monosomy X |
|
Elevated hepatic transaminase, Failure to thrive in infancy, High urinary gonadotropin level, Ect... |
ORPHA:99226 |
Colchicine Poisoning |
|
Respiratory distress, Renal insufficiency, Oliguria, Cardiorespiratory arrest |
ORPHA:31824 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Elevated hepatic transaminase, Abnormal penis morphology, Respiratory distress, Respiratory failu... |
ORPHA:95455 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Leptospirosis |
|
Respiratory distress, Hepatomegaly, Anorexia, Cellular urinary casts, Jaundice, Hepatitis, Cough,... |
ORPHA:509 |
Atypical Werner Syndrome |
|
Diabetes mellitus, Abnormal circulating leptin concentration, Insulin-resistant diabetes mellitus... |
ORPHA:79474 |
Lipodystrophy, Familial Partial, Type 2 |
|
Hepatomegaly, Acute pancreatitis, Insulin-resistant diabetes mellitus, Hyperinsulinemia, Polycyst... |
OMIM:151660 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea, Enlarged kidney |
OMIM:261740 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Apnea, Asthma, Hypotonia, Ectopic thyroid, Hypothyroidism |
ORPHA:3206 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Elevated hepatic transaminase, Hepatomegaly, Proteinuria, Focal segmental glomerulosclerosis, Mac... |
OMIM:619127 |
Eisenmenger Syndrome |
|
Respiratory distress, Hepatomegaly, Renal insufficiency, Increased pulmonary vascular resistance,... |
ORPHA:97214 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Abnormality of the ureter, Upper airw... |
ORPHA:141127 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Absent nipple, Aplasia/Hypoplastia of the eccrine sweat glands, Rhinitis, H... |
OMIM:305100 |
Infantile Refsum Disease |
|
Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Hypotonia, Spasticity, Failure to ... |
ORPHA:772 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
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Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen... |
ORPHA:480880 |
Scimitar Syndrome |
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Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Zellweger Syndrome |
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Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,... |
ORPHA:912 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hepatic hemangioma, Hypopnea |
ORPHA:2330 |
Generalized Arterial Calcification Of Infancy |
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Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, Hep... |
ORPHA:51608 |
Tetraamelia Syndrome 1 |
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Asplenia, Urethral atresia, Adrenal gland agenesis |
OMIM:273395 |
Pmm2-Cdg |
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Elevated hepatic transaminase, Respiratory distress, Axial hypotonia, Proteinuria, Hypogonadotrop... |
ORPHA:79318 |
Ulbright-Hodes Syndrome |
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Abnormal penis morphology, Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax,... |
ORPHA:3404 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
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Splenomegaly, Hepatomegaly, Respiratory distress, Horseshoe kidney |
OMIM:617088 |
Plague |
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Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Slurred speech, Acute infectious pneu... |
ORPHA:707 |
Cleidocranial Dysplasia 1 |
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Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Aortic Arch Interruption |
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Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Neonatal Adrenoleukodystrophy |
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Abnormality of the liver, Primary adrenal insufficiency, Hypotonia |
ORPHA:44 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
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Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduri... |
ORPHA:99646 |
Peroxisome Biogenesis Disorder 11B |
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Hypotonia, Hepatosplenomegaly |
OMIM:614885 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Apneic ep... |
ORPHA:99125 |
Homozygous Familial Hypercholesterolemia |
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Dyspnea, Hepatic steatosis, Renal artery stenosis |
ORPHA:391665 |