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Gene: Pex13 MGI:1919379

Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:

peroxisomal biogenesis factor 13

Synonyms:

2610008O20Rik

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Pex13 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

Human diseases associated with Pex13 (5 diseases)
Human diseases predicted to be associated with Pex13 (638 diseases)

The table below shows human diseases associated to Pex13 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Peroxisome Biogenesis Disorder 11A (Zellweger)	Elevated hepatic transaminase, Apnea, Severe muscular hypotonia, Renal cyst, Multiple renal cysts...	OMIM:614883
Infantile Refsum Disease	Hepatomegaly, Very long chain fatty acid accumulation, Ataxia, Hypotonia, Spasticity, Failure to ...	ORPHA:772
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,...	ORPHA:912
Neonatal Adrenoleukodystrophy	Abnormality of the liver, Primary adrenal insufficiency, Hypotonia	ORPHA:44
Peroxisome Biogenesis Disorder 11B	Hypotonia, Hepatosplenomegaly	OMIM:614885

The table below shows human diseases predicted to be associated to Pex13 by phenotypic similarity.

Disease	Matching phenotypes	Source
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	Respiratory distress, Cyst of the ductus choledochus, Abnormal circulating thyroid hormone concen...	ORPHA:480880
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Zellweger Syndrome	Hepatomegaly, Multicystic kidney dysplasia, Very long chain fatty acid accumulation, Hypospadias,...	ORPHA:912
Kasabach-Merritt Syndrome	Respiratory distress, Hepatic hemangioma, Hypopnea	ORPHA:2330
Generalized Arterial Calcification Of Infancy	Respiratory distress, Hyperphosphaturia, Failure to thrive in infancy, Adrenal calcification, Hep...	ORPHA:51608
Tetraamelia Syndrome 1	Asplenia, Urethral atresia, Adrenal gland agenesis	OMIM:273395
Pmm2-Cdg	Elevated hepatic transaminase, Respiratory distress, Axial hypotonia, Proteinuria, Hypogonadotrop...	ORPHA:79318
Ulbright-Hodes Syndrome	Abnormal penis morphology, Respiratory distress, Maternal diabetes, Cryptorchidism, Pneumothorax,...	ORPHA:3404
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Splenomegaly, Hepatomegaly, Respiratory distress, Horseshoe kidney	OMIM:617088
Plague	Respiratory distress, Hepatomegaly, Anorexia, Splenomegaly, Slurred speech, Acute infectious pneu...	ORPHA:707
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Neonatal Adrenoleukodystrophy	Abnormality of the liver, Primary adrenal insufficiency, Hypotonia	ORPHA:44
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Unilateral renal agenesis, Recurrent pneumonia, D-2-hydroxyglutaric aciduri...	ORPHA:99646
Peroxisome Biogenesis Disorder 11B	Hypotonia, Hepatosplenomegaly	OMIM:614885
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Hepatomegaly, Respiratory failure requiring assisted ventilation, Apneic ep...	ORPHA:99125
Homozygous Familial Hypercholesterolemia	Dyspnea, Hepatic steatosis, Renal artery stenosis	ORPHA:391665

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Pex13

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Pex13.

No publications found that use IMPC mice or data for Pex13.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Pex13^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pex13^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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