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Gene: Pex13 MGI:1919379

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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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:614883
Infantile Refsum Disease
Spasticity, Failure to thrive, Hypotonia, Ataxia, Hepatomegaly, Very long chain fatty acid accumu... ORPHA:772
Zellweger Syndrome
Hepatic failure, Multicystic kidney dysplasia, Failure to thrive, Primary adrenal insufficiency, ... ORPHA:912
Neonatal Adrenoleukodystrophy
Hypotonia, Abnormality of the liver, Primary adrenal insufficiency 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 Similarity of
phenotypes		 Matching phenotypes Source
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Spastic paraparesis, Resting tremor, Incoordination, Neurodegeneration, Paraparesis, Gait apraxia... OMIM:615157
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Respiratory ... ORPHA:240103
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Generalized hypotonia, Tremor, Hemiparesis, Dystonia, Parkinsonism,... ORPHA:306669
Lopes-Maciel-Rodan Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Cerebellar vermis atrophy, Bruxism, Tremor, Ank... OMIM:617435
Spinocerebellar Ataxia 17
Cerebellar atrophy, Chorea, Limb ataxia, Myoclonus, Gait ataxia, Dysmetria, Rigidity, Diffuse cer... OMIM:607136
Rapid-Onset Dystonia-Parkinsonism
Cerebellar atrophy, Resting tremor, Generalized hypotonia, Gait ataxia, Limb dystonia, Parkinsoni... ORPHA:71517
Hsd10 Mitochondrial Disease
Cerebral cortical atrophy, Spasticity, Generalized hypotonia, Hypotonia, Agitation, Aggressive be... OMIM:300438
Huntington Disease
Degeneration of the striatum, Oral-pharyngeal dysphagia, Polyphagia, Weight loss, Clonus, Bradyki... ORPHA:399
Frontotemporal Dementia With Motor Neuron Disease
Global brain atrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abnor... ORPHA:275872
Juvenile Huntington Disease
Cerebellar atrophy, Cerebellar vermis atrophy, Oral motor hypotonia, Chorea, Myoclonus, Gait atax... ORPHA:248111
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Spasticity, Cerebellar atrophy, Cerebral atrophy, Infantile axial hypotonia, Tremor, Ankle clonus... ORPHA:521406
Combined Oxidative Phosphorylation Deficiency 38
Failure to thrive, Generalized hypotonia, Decreased activity of mitochondrial ATP synthase comple... OMIM:618378
Spastic Paraplegia 78, Autosomal Recessive
Spastic paraplegia, Cerebral cortical atrophy, Cerebellar atrophy, Resting tremor, Urinary urgenc... OMIM:617225
Parkinson Disease 15, Autosomal Recessive Early-Onset
Tremor, Abnormality of extrapyramidal motor function, Rigidity, Babinski sign, Parkinsonism, Lowe... OMIM:260300
Spastic Paraplegia Type 7
Cerebral cortical atrophy, Cerebellar atrophy, Babinski sign, Attention deficit hyperactivity dis... ORPHA:99013
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV, Babinski sign, La... OMIM:619063
Dystonia 16
Postural tremor, Limb dystonia, Parkinsonism, Abnormal pyramidal sign, Torticollis, Bradykinesia,... ORPHA:210571
Autosomal Recessive Dopa-Responsive Dystonia
Oculogyric crisis, Generalized dystonia, Generalized hypotonia, Postural tremor, Hypotonia, Myocl... ORPHA:101150
Neurodegeneration With Brain Iron Accumulation 6
Spastic paraparesis, Neurodegeneration, Rigidity, Dystonia, Motor tics, Oromandibular dystonia, C... OMIM:615643
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Chorea, Dysmetria, Dystonia, Parkinsonism, Abnormal pyramidal sign, Ataxia, Bradykinesia, Dysphag... OMIM:618317
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Hypotonia, Attention deficit hyperactivity disorder, Lower limb spasticity, Bradykinesia, Urinary... OMIM:618878
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Neuromuscular dysphagia, Respiratory distress, Tremor, Rigidity, Dystonia, Parkinsonism with favo... ORPHA:240085
Spinocerebellar Ataxia Type 20
Upper limb postural tremor, Cerebellar atrophy, Bradykinesia, Laryngeal dystonia, Gait ataxia, Ab... ORPHA:101110
Parkinson Disease 25, Autosomal Recessive Early-Onset, With Impaired Intellectual Development
Resting tremor, Restless legs, Rigidity, Disinhibition, Parkinsonism with favorable response to d... OMIM:620482
Dystonia, Dopa-Responsive
Spasticity, Resting tremor, Incoordination, Postural tremor, Cogwheel rigidity, Gait ataxia, Dyst... OMIM:128230
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Spasticity, Global brain atrophy, Rigidity, Apraxia, Parkinsonism, Corpus callosum atrophy, Neuro... OMIM:221820
Combined Oxidative Phosphorylation Deficiency 12
Failure to thrive, Neonatal hypotonia, Bradykinesia, Cholestasis, Elevated circulating aspartate ... OMIM:614924
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Spastic paraplegia, Spastic tetraplegia, Male hypogonadism, Resting tremor, Bruxism, Obesity, Apn... OMIM:300055
Spinocerebellar Ataxia Type 12
Cerebellar atrophy, Cerebral atrophy, Postural tremor, Limb dysmetria, Action tremor, Intention t... ORPHA:98762
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Oculogyric crisis, Generalized hypotonia, Dystonia, Attention deficit hyperactivity disorder, Par... OMIM:617384
Parkinsonism With Spasticity, X-Linked
Spasticity, Resting tremor, Cogwheel rigidity, Babinski sign, Parkinsonism, Bradykinesia OMIM:300911
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Elevated circulating hepatic transaminase concentration, Failure to thrive, Respiratory distress,... OMIM:613561
Spinocerebellar Ataxia, Autosomal Recessive 32
Cerebellar atrophy, Limb myoclonus, Postural tremor, Limb ataxia, Gait ataxia, Torticollis, Atrop... OMIM:619862
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Spasticity, Cerebellar atrophy, Cerebral atrophy, Action tremor, Rigidity, Babinski sign, Parkins... OMIM:300423
Hyperphenylalaninemia, Bh4-Deficient, A
Small for gestational age, Tremor, Rigidity, Dystonia, Parkinsonism, Limb hypertonia, Hypertonia,... OMIM:261640
Striatal Degeneration, Autosomal Dominant 1
Degeneration of the striatum, Tremor, Rigidity, Bradykinesia, Dysdiadochokinesis, Slurred speech OMIM:609161
Beta-Propeller Protein-Associated Neurodegeneration
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Tremor, Rigidity, Dystonia, Aggressive... ORPHA:329284
Cerebellar Ataxia, Cayman Type
Cerebellar atrophy, Hypotonia, Gait ataxia, Dystonia, Ataxia, Truncal ataxia, Bradykinesia, Inten... OMIM:601238
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Hemidystonia, Spastic tetraparesis, Abnormal pyramidal sign, Spastic gait, Severe temper tantrums... OMIM:619052
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Myoclonus, Tremor, Rigidity, Diffuse cerebral atrophy, Babinski sign, Dystonia, ... ORPHA:314632
Combined Oxidative Phosphorylation Deficiency 52
Aminoaciduria, Anorexia, Elevated circulating aspartate aminotransferase concentration, Adrenal i... OMIM:619386
Dystonia 12
Tremor, Dystonia, Parkinsonism, Torticollis, Bradykinesia, Dysphagia OMIM:128235
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Generalized hypotonia, Elevated circulating aspartate aminotransferase concent... OMIM:619048
Cyanide-Induced Parkinsonism-Dystonia
Cerebral cortical atrophy, Resting tremor, Rigidity, Parkinsonism, Bradykinesia, Subcortical cere... ORPHA:306692
Huntington Disease-Like 2
Cerebral cortical atrophy, Chorea, Action tremor, Rigidity, Dystonia, Weight loss, Bradykinesia OMIM:606438
Huntington Disease-Like 1
Cerebral cortical atrophy, Involuntary movements, Cerebellar atrophy, Generalized hypotonia, Inco... ORPHA:157941
Spastic Paraplegia 80, Autosomal Dominant
Spastic paraplegia, Limb ataxia, Dystonia, Babinski sign, Lower limb spasticity, Bradykinesia, Ur... OMIM:618418
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Aminoaciduria, Proximal tubulopathy, Failure to thrive, Generalized hypotonia, Respiratory distre... OMIM:612075
Basal Ganglia Calcification, Idiopathic, 1
Chorea, Limb dysmetria, Tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Urinar... OMIM:213600
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Rigidity, Dystonia, Parkinsonism, Bradykinesia, Urinary urgency OMIM:605909
Spinocerebellar Ataxia 2
Spasticity, Action tremor, Parkinsonism, Ataxia, Urinary incontinence, Bradykinesia, Dysphagia, P... OMIM:183090
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysphagia, Dysdiadochokinesis, Rigidity ORPHA:228169
Short Chain Acyl-Coa Dehydrogenase Deficiency
Failure to thrive, Respiratory distress, Increased level of methylsuccinic acid in urine, Hepatic... ORPHA:26792
Dna2-Related Mitochondrial Dna Deletion Syndrome
Slender build, Decreased mitochondrial number, Exertional dyspnea, Generalized hypotonia ORPHA:352470
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Frontotemporal cerebral atrophy, Inappropriate behavior, Diffuse cerebral atrophy, Parkinsonism, ... ORPHA:412066
Huntington Disease
Cerebellar atrophy, Chorea, Gait ataxia, Rigidity, Neuronal loss in central nervous system, Brady... OMIM:143100
Autosomal Dominant Spastic Paraplegia Type 3
Ankle clonus, Rigidity, Babinski sign, Lower limb spasticity, Spastic gait, Bradykinesia, Frequen... ORPHA:100984
Intellectual Developmental Disorder, Autosomal Dominant 56
Spasticity, Lateral ventricle dilatation, Hypotonia, Myoclonus, Pontocerebellar atrophy, Dystonia... OMIM:617854
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Chorea, Hypotonia, Myoclonus, Rigidity, Hyperkinetic movements, Opisthotonus, ... ORPHA:13
Neurodegeneration With Brain Iron Accumulation 3
Blepharospasm, Spasticity, Laryngeal dystonia, Neurodegeneration, Chorea, Tremor, Rigidity, Disin... OMIM:606159
X-Linked Parkinsonism-Spasticity Syndrome
Spasticity, Spastic paraparesis, Resting tremor, Lateral ventricle dilatation, Cogwheel rigidity,... ORPHA:363654
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Arm dystonia, Episodic ataxia, Incoordination, Episodic generalized hypotonia, Hypotonia, Gait at... OMIM:601338
Caribbean Parkinsonism
Cerebral cortical atrophy, Myoclonus, Action tremor, Rigidity, Dystonia, Progressive gait ataxia,... ORPHA:97355
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Restless legs, Rigidity, Parkinsonism with favorable response to dopaminergic med... OMIM:616710
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Limb ataxia, Limb dystonia, Rigidity, Babinski sign, Parkinsonism, Hyperton... OMIM:618824
Parkinsonism With Polyneuropathy
Resting tremor, Rigidity, Diffuse cerebral atrophy, Parkinsonism with favorable response to dopam... OMIM:619279
Infantile Dystonia-Parkinsonism
Oculogyric crisis, Cerebral palsy, Chorea, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... ORPHA:238455
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Resting tremor, Ri... OMIM:607688
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Tremor, Rigidity OMIM:610297
Combined Oxidative Phosphorylation Deficiency 19
Failure to thrive, Mitochondrial swelling, Neonatal hypotonia, Respiratory distress, Elevated cir... OMIM:615595
Leber Optic Atrophy And Dystonia
Spasticity, Dystonia, Upper motor neuron dysfunction, Bradykinesia, Athetosis, Dysphagia OMIM:500001
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Hypotonia, Obsessive-compulsive trait, Tremor, Ataxia, Generalized cerebral atrop... ORPHA:36387
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Spasticity, Generalized hypotonia, Respiratory distress, Myoclonus, Decreased activity of the pyr... OMIM:614299
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Chorea, Death in childhood, Lethargy, Ataxia, Bradykinesia OMIM:618683
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, Dystonia, Limb hypertonia, Bradykinesia, Sma... ORPHA:70594
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Nephrolithiasis, Aggressive behavior, Attention ... OMIM:619827
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized hypotonia, Tremor, Rigidity, Dystonia, Ataxia, Bradykinesia OMIM:617836
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number, Increased intramyocellular lipid droplets ORPHA:457050
Parkinson Disease 19A, Juvenile-Onset
Spasticity, Pill-rolling tremor, Rigidity, Dystonia, Parkinsonism, Abnormal pyramidal sign, Limb ... OMIM:615528
Parkinsonism-Dystonia 1, Infantile-Onset
Oculogyric crisis, Chorea, Cogwheel rigidity, Limb dystonia, Tremor, Rigidity, Hyperkinetic movem... OMIM:613135
Manganese Poisoning
Postural tremor, Inappropriate laughter, Abnormality of mitochondrial metabolism, Cogwheel rigidi... ORPHA:306682
Dravet Syndrome
Global brain atrophy, Incoordination, Cogwheel rigidity, Action tremor, Myoclonus, Rigidity, Obse... ORPHA:33069
Neurodegeneration With Brain Iron Accumulation 5
Spastic paraparesis, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Tremor, Rigidity, D... OMIM:300894
Fragile X Tremor/Ataxia Syndrome
Cerebellar atrophy, Resting tremor, Postural tremor, Gait ataxia, Action tremor, Dysmetria, Inten... OMIM:300623
Dystonia 16
Involuntary movements, Generalized dystonia, Laryngeal dystonia, Postural tremor, Retrocollis, Li... OMIM:612067
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Inherited Creutzfeldt-Jakob Disease
Global brain atrophy, Central nervous system degeneration, Progressive extrapyramidal muscular ri... ORPHA:282166
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Spasticity, Fasciculations, Rigidity, Ataxia, Bradykinesia OMIM:183050
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Hypotonia ORPHA:2680
Spinocerebellar Ataxia Type 1
Progressive cerebellar ataxia, Cerebellar atrophy, Fasciculations, Generalized hypotonia, Chorea,... ORPHA:98755
Autosomal Recessive Spastic Paraplegia Type 77
Detrusor sphincter dyssynergia, Neuromuscular dysphagia, Progressive spastic paraplegia, Bilatera... ORPHA:466722
Spinocerebellar Ataxia 10
Cerebellar atrophy, Incoordination, Limb fasciculations, Limb ataxia, Gait ataxia, Dysmetria, Abn... OMIM:603516
Combined Oxidative Phosphorylation Deficiency 2
Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Decreased activity o... OMIM:610498
Machado-Joseph Disease
Spasticity, Cerebellar atrophy, Facial-lingual fasciculations, Fasciculations, Urinary bladder sp... OMIM:109150
Hypermanganesemia With Dystonia 2
Spasticity, Cerebellar atrophy, Cerebral atrophy, Generalized dystonia, Hypotonia, Limb dystonia,... OMIM:617013
Autosomal Recessive Progressive External Ophthalmoplegia
Cerebellar atrophy, Cerebral atrophy, Cogwheel rigidity, Action tremor, Parkinsonism with favorab... ORPHA:254886
Perry Syndrome
Inappropriate behavior, Central hypoventilation, Hypoventilation, Rigidity, Tremor, Disinhibition... OMIM:168605
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Decreased circulating carnitine concentration, Generalized hypotonia, Respiratory distress, Abnor... ORPHA:254864
Tremor, Hereditary Essential, 5
Tongue tremor, Bradykinesia, Postural tremor, Kinetic tremor, Intention tremor OMIM:616736
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Hypotonia, Abnormality of the mitochondrion, Failure to thrive ORPHA:91130
Kufor-Rakeb Syndrome
Spastic paraplegia, Spasticity, Myoclonus, Tremor, Rigidity, Dystonia, Babinski sign, Parkinsonis... OMIM:606693
Severe X-Linked Mitochondrial Encephalomyopathy
Tongue fasciculations, Involuntary movements, Generalized hypotonia, Respiratory distress, Severe... ORPHA:238329
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Spasticity, Hemiballismus, Cerebral atrophy, Hypotonia, Myoclonus, Gait ataxia, Tremor, Rigidity,... OMIM:618877
Childhood-Onset Nemaline Myopathy
Neuromuscular dysphagia, Generalized hypotonia, Slender build, Increased muscle lipid content, Cl... ORPHA:171439
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Combined Oxidative Phosphorylation Deficiency 21
Increased cerebral lipofuscin, Cerebral atrophy, Hepatic steatosis, Neonatal death, Limb hyperton... OMIM:615918
Congenital Myopathy 10A, Severe Variant
Tongue fasciculations, Failure to thrive, Neonatal hypotonia, Respiratory distress, Hypotonia, Di... OMIM:614399
Carnitine Deficiency, Systemic Primary
Decreased circulating carnitine concentration, Failure to thrive, Dicarboxylic aciduria, Respirat... OMIM:212140
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Chorea, Cogwheel rigidity, Myoclonus, Dystonia, Parkinsonism, Attention deficit h... OMIM:619725
Corticobasal Syndrome
Involuntary movements, Limb myoclonus, Progressive extrapyramidal muscular rigidity, Speech aprax... ORPHA:454887
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Spasticity, Failure to thrive, Decreased liver function, Generalized dystonia, Generalized hypoto... ORPHA:70472
Peroxisomal Acyl-Coa Oxidase Deficiency
Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Hypotonia, Dystonia,... OMIM:264470
Gaucher Disease Type 2
Spasticity, Abnormal pattern of respiration, Respiratory distress, Splenomegaly, Hepatomegaly, Dy... ORPHA:77260
Mitochondrial Membrane Protein-Associated Neurodegeneration
Spasticity, Spastic paraparesis, Hand tremor, Rigidity, Dystonia, Babinski sign, Parkinsonism, Dy... ORPHA:289560
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Progressive extrapyramidal muscular rigidity, Hemiplegia, Chorea, Infantile axial... ORPHA:225147
Gerstmann-Straussler Disease
Spasticity, Cerebellar atrophy, Limb ataxia, Myoclonus, Gait ataxia, Tremor, Rigidity, Aggressive... OMIM:137440
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Generalized hypotonia, Tremor, Ataxia OMIM:619099
Rett Syndrome
Failure to thrive, Abnormal pattern of respiration, Abnormal muscle tone, Increased serum leptin,... ORPHA:778
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress, Agenesis of corpus callosum ORPHA:171703
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Weight loss ORPHA:141152
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Hypertonia OMIM:254120
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Ataxia, Bradykinesia, Dysphagia, Goiter, Abnormality of the liver, Abnormality of... ORPHA:254892
Combined Oxidative Phosphorylation Deficiency 16
Elevated circulating aspartate aminotransferase concentration, Elevated circulating alanine amino... OMIM:615395
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Spastic paraplegia, Spasticity, Respiratory distress, Hypotonia, Spastic tetraplegia, Axial hypot... OMIM:617977
X-Linked Dystonia-Parkinsonism
Blepharospasm, Resting tremor, Progressive extrapyramidal muscular rigidity, Hand tremor, Torsion... ORPHA:53351
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Failure to thrive, Respiratory distress, Hypotonia, Renal insufficiency, Splenomegaly, Lethargy, ... ORPHA:79312
Severe Neurodegenerative Syndrome With Lipodystrophy
Poor motor coordination, Spasticity, Cerebral atrophy, Tetraparesis, Hyperinsulinemia, Myoclonus,... ORPHA:363400
Combined Oxidative Phosphorylation Deficiency 27
Cerebral cortical atrophy, Global brain atrophy, Cerebellar atrophy, Failure to thrive, Cerebral ... OMIM:616672
Hypermanganesemia With Dystonia 1
Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Decreased liver fun... OMIM:613280
Spinocerebellar Ataxia Type 13
Cerebellar atrophy, Generalized hypotonia, Limb ataxia, Myoclonus, Gait ataxia, Clumsiness, Dysph... ORPHA:98768
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia, Respiratory distress, Generalized hypotonia due to defect at the neuromusc... OMIM:605809
Atypical Juvenile Parkinsonism
Involuntary movements, Resting tremor, Myoclonus, Gait ataxia, Rigidity, Dystonia, Abnormal pyram... ORPHA:391411
Combined Oxidative Phosphorylation Deficiency 30
Failure to thrive, Decreased liver function, Respiratory distress, Elevated circulating aspartate... OMIM:616974
Congenital Disorder Of Glycosylation, Type Iy
Failure to thrive, Generalized hypotonia, Respiratory distress, Hypotonia, Hypospadias OMIM:300934
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Motor stereotypy, Death in infancy OMIM:616341
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Hypotonia, Decreased activity of mito... OMIM:604377
Mitochondrial Complex I Deficiency, Nuclear Type 37
Cerebral cortical atrophy, Cerebellar atrophy, Failure to thrive, Cerebral atrophy, Respiratory d... OMIM:619272
Adult-Onset Nemaline Myopathy
Bradykinesia, Neuromuscular dysphagia, Increased muscle lipid content ORPHA:171442
Neurodegeneration With Brain Iron Accumulation 2B
Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, Chorea, Gait ataxia, Intenti... OMIM:610217
Spinocerebellar Ataxia Type 8
Spasticity, Cerebellar atrophy, Cerebellar vermis atrophy, Limb ataxia, Gait ataxia, Rigidity, Dy... ORPHA:98760
Multiple System Atrophy, Cerebellar Type
Neuromuscular dysphagia, Resting tremor, Postural tremor, Limb ataxia, Gait ataxia, Axial dystoni... ORPHA:227510
Bardet-Biedl Syndrome 16
Respiratory distress, Hypogonadism, Obesity, Stage 5 chronic kidney disease, Renal insufficiency,... OMIM:615993
Atypical Progressive Supranuclear Palsy Syndrome
Blepharospasm, Inappropriate behavior, Extrapyramidal muscular rigidity, Speech apraxia, Tremor, ... ORPHA:99750
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Generalized hypotonia due to defect at the neuromuscular junction, Apneic e... OMIM:254210
Congenital Disorder Of Glycosylation, Type Ix
Cerebellar atrophy, Failure to thrive, Respiratory distress, Hypotonia, Cryptorchidism, Death in ... OMIM:615597
Neuroferritinopathy
Blepharospasm, Involuntary movements, Arm dystonia, Resting tremor, Chorea, Leg dystonia, Dystoni... ORPHA:157846
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Cerebellar atrophy, Decreased mitochondrial number, Nephrolithiasis, Dyspnea, Dysphagia, Hypergon... ORPHA:352447
Parkinson Disease 14, Autosomal Recessive
Upper limb postural tremor, Spasticity, Global brain atrophy, Pill-rolling tremor, Resting tremor... OMIM:612953
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... ORPHA:42
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Decreased activity of mitochondrial complex IV, Hepatic steatosis, 3-Methylglutaconic aciduria, H... ORPHA:17
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Cerebral cortical atrophy, Spasticity, Cerebellar atrophy, Cerebral atrophy, Neurodegeneration, C... OMIM:617672
Classic Progressive Supranuclear Palsy Syndrome
Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto... ORPHA:240071
Combined Oxidative Phosphorylation Deficiency 11
Tongue fasciculations, Renal hypoplasia, Cerebral cortical atrophy, Decreased liver function, Gen... OMIM:614922
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Chorea, Hypotonia, Renal insufficiency, Hemiplegia/hemiparesis, Renal tubul... ORPHA:289916
Autosomal Dominant Dopa-Responsive Dystonia
Focal dystonia, Generalized dystonia, Postural tremor, Gait ataxia, Limb dystonia, Rigidity, Abno... ORPHA:98808
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Cerebellar atrophy, Limb ataxia, Gait ataxia, Rigidity, Dystonia, Babinski sign, Parkinsonism, Tr... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 18
Methylmalonic aciduria, Increased mitochondrial number, Hypotonia, Tremor, Dysmetria, Decreased a... OMIM:615578
Hereditary Late-Onset Parkinson Disease
Cerebral cortical atrophy, Resting tremor, Rigidity, Dystonia, Impulsivity, Parkinsonism, Parkins... ORPHA:411602
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Resting tremor, Cerebral atrophy, Postural tremor, Cogwheel rigidity, Gait a... OMIM:600116
Cardiomyopathy, Dilated, 1Gg
Respiratory distress, Decreased activity of mitochondrial complex II OMIM:613642
Multiple System Atrophy
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:102
Brain-Lung-Thyroid Syndrome
Incoordination, Abnormal eating behavior, Agenesis of corpus callosum, Ataxia, Hypoparathyroidism... ORPHA:209905
Isolated Atp Synthase Deficiency
Spastic paraplegia, Renal hypoplasia, Cerebral cortical atrophy, Cerebellar atrophy, Respiratory ... ORPHA:254913
Primary Progressive Freezing Gait
Cerebral cortical atrophy, Postural tremor, Restless legs, Rigidity, Babinski sign, Clonus, Dysph... ORPHA:75567
Parkinson Disease, Late-Onset
Resting tremor, Tremor, Rigidity, Dystonia, Parkinsonism, Neuronal loss in central nervous system... OMIM:168600
Mitochondrial Pyruvate Carrier Deficiency
Organic aciduria, Generalized hypotonia, Respiratory distress, Hypotonia, Hepatomegaly OMIM:614741
Stuve-Wiedemann Syndrome 2
Respiratory distress, Neonatal death, Death in adolescence, Stillbirth, Dysphagia OMIM:619751
Combined Oxidative Phosphorylation Deficiency 57
Cerebral atrophy, Central hypoventilation, Hypotonia, Apnea, Decreased activity of mitochondrial ... OMIM:620167
Myopathy And Diabetes Mellitus
Type I diabetes mellitus, Neonatal hypotonia, Respiratory distress, Babinski sign, Frequent falls... ORPHA:2596
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape, Cerebellar atrophy, Cerebral atrophy, Generalized dystonia, Myoclon... ORPHA:412217
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Multiple System Atrophy, Parkinsonian Type
Resting tremor, Postural tremor, Gait ataxia, Axial dystonia, Rigidity, Parkinsonism, Abnormal py... ORPHA:98933
Neurodegeneration With Brain Iron Accumulation 1
Spasticity, Neurodegeneration, Obsessive-compulsive trait, Parkinsonism, Abnormal pyramidal sign,... OMIM:234200
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Hypotonia, Axonal degeneration, Paradoxical respiration, Craniofacial dysto... OMIM:620011
Mitochondrial Complex I Deficiency, Nuclear Type 11
Failure to thrive, Hypotonia, Decreased activity of mitochondrial complex I, Hepatomegaly, Macrov... OMIM:618234
Aicardi-Goutieres Syndrome 9
Spasticity, Lateral ventricle dilatation, Hepatosplenomegaly, Hepatic steatosis, Weight loss, Glo... OMIM:619487
Parkinson Disease 7, Autosomal Recessive Early-Onset
Blepharospasm, Resting tremor, Postural tremor, Leg dystonia, Rigidity, Parkinsonism with favorab... OMIM:606324
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape, Spasticity, Cerebellar atrophy, Failure to thrive, Hypotonia, Gait ... ORPHA:543470
Parkinson Disease 17
Resting tremor, Tremor, Rigidity, Parkinsonism, Bradykinesia OMIM:614203
Developmental And Epileptic Encephalopathy 68
Cerebral cortical atrophy, Spasticity, Failure to thrive, Respiratory distress, Myoclonus, Clonus... OMIM:618201
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Generalized neonatal hypotonia, Decreased body weight OMIM:300580
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Rigidity, Dystonia, Clumsiness, Parkinsonism, Bradykinesia OMIM:619911
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Generalized neonatal hypotonia, Failure to thrive, Methylmalonic aciduria, Cerebral atrophy, Elev... OMIM:245400
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type
Homocystinuria, Spasticity, Failure to thrive, Methylmalonic aciduria, Cerebral atrophy, Respirat... OMIM:250940
Pleural Mesothelioma
Dyspnea, Respiratory distress, Weight loss, Hepatomegaly, Dysphagia ORPHA:50251
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Periportal fibrosis, Decreased circulating carnitine concentration, Hepatocellular necrosis, Dica... OMIM:201475
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Glycosuria, Hepatic periporta... OMIM:231680
Morbid Obesity And Spermatogenic Failure
Azoospermia, Obesity, Type II diabetes mellitus, Hepatic steatosis, Oligozoospermia OMIM:615703
Postencephalitic Parkinsonism
Involuntary movements, Oculogyric crisis, Resting tremor, Cogwheel rigidity, Rigidity, Babinski s... ORPHA:97349
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Spastic paraparesis, Decreased activity of mitochondrial complex IV, Babinski sign, Neurogenic bl... OMIM:500013
Fragile X-Associated Tremor/Ataxia Syndrome
Diffuse cerebellar atrophy, Cerebral cortical atrophy, Urinary bladder sphincter dysfunction, Gai... ORPHA:93256
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Aminoaciduria, Failure to thrive, Decreased liver function, Glycosuria, Respiratory distress, Gen... OMIM:220110
Hypertriglyceridemia, Transient Infantile
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Hep... OMIM:614480
Progressive Supranuclear Palsy
Blepharospasm, Cerebral cortical atrophy, Tremor, Rigidity, Dystonia, Neuronal loss in central ne... ORPHA:683
Choreoacanthocytosis
Resting tremor, Lateral ventricle dilatation, Limb dystonia, Hair-pulling, Parkinsonism, Weight l... ORPHA:2388
Stt3B-Cdg
Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Respiratory distress, Cryptorchidis... ORPHA:370924
Holocarboxylase Synthetase Deficiency
Organic aciduria, Respiratory distress, Anorexia, Hypotonia, Lethargy, Tachypnea, Weight loss, At... ORPHA:79242
Parkinson Disease 1, Autosomal Dominant
Global brain atrophy, Resting tremor, Myoclonus, Rigidity, Dystonia, Parkinsonism, Bradykinesia, ... OMIM:168601
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Paraplegia, Lethargy, Infantile muscular hypotonia, Atax... ORPHA:927
Congenital Disorder Of Glycosylation, Type Ie
Elevated circulating hepatic transaminase concentration, Failure to thrive, Generalized hypotonia... OMIM:608799
3-Methylglutaconic Aciduria Type 7
Spasticity, Elevated circulating hepatic transaminase concentration, Nephrocalcinosis, Cerebellar... ORPHA:445038
Folinic Acid-Responsive Seizures
Frontotemporal cerebral atrophy, Cerebellar atrophy, Respiratory distress, Chorea, Apnea, Dystoni... ORPHA:79097
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Hyperglycinuria, Decreased circulating carnitine concentration, Elevated circulating hepatic tran... OMIM:201450
Ddost-Cdg
Elevated circulating hepatic transaminase concentration, Failure to thrive, Generalized hypotonia... ORPHA:300536
Parkinsonian-Pyramidal Syndrome
Spasticity, Myoclonus, Rigidity, Dystonia, Babinski sign, Parkinsonism, Abnormal pyramidal sign, ... ORPHA:171695
Myotonic Dystrophy 1
Cholelithiasis, Cerebral atrophy, Generalized hypotonia, Respiratory distress, Hypogonadism, Hypo... OMIM:160900
Primary Dystonia, Dyt4 Type
Upper limb postural tremor, Blepharospasm, Involuntary movements, Generalized dystonia, Laryngeal... ORPHA:98805
Adult-Onset Dystonia-Parkinsonism
Progressive extrapyramidal movement disorder, Spasticity, Frontotemporal cerebral atrophy, Myoclo... ORPHA:199351
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Generalized hypotonia, Respiratory distress, Failure to thrive in infancy, Hypotonia, Dysphagia ORPHA:254875
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)
Depletion of mitochondrial DNA in liver, Hepatic failure, Periportal fibrosis, Elevated circulati... OMIM:251880
Oromandibular Dystonia
Blepharospasm, Generalized dystonia, Laryngeal dystonia, Respiratory distress, Bruxism, Limb dyst... ORPHA:93958
Coenzyme Q10 Deficiency, Primary, 8
Generalized hypotonia, Respiratory distress, Hypotonia, Abnormal renal corticomedullary different... OMIM:616733
Liver Failure, Infantile, Transient
Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Acute hepatic fai... OMIM:613070
Lissencephaly Syndrome, Norman-Roberts Type
Cerebellar atrophy, Abnormal muscle tone, Respiratory distress, Agenesis of corpus callosum, Dysp... ORPHA:89844
Obesity And Hypopigmentation
Polyphagia, Obesity, Hepatic steatosis, Hyperinsulinemia OMIM:620195
Fatty Liver Disease, Susceptibility To, 2
Hepatic steatosis OMIM:613387
Fatty Liver Disease, Susceptibility To, 1
Hepatic steatosis OMIM:613282
Congenital Disorder Of Glycosylation, Type Iip
Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Decreased liver funct... OMIM:616829
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Elevated circulating hepatic transaminase concentration, Hepatic steatosis OMIM:618400
Anaplastic Thyroid Carcinoma
Goiter, Respiratory distress, Anaplastic thyroid carcinoma, Nodular goiter, Weight loss, Vocal co... ORPHA:142
Congenital Disorder Of Glycosylation, Type Iu
Elevated circulating hepatic transaminase concentration, Generalized hypotonia, Respiratory distr... OMIM:615042
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Acute hepatic steatosis, Ketonuria, Failure to thrive, Elevated urinary 3-methylcrotonylglycine l... OMIM:210200
Fumarase Deficiency
Aminoaciduria, Intrahepatic cholestasis, Hepatic failure, Elevated urine fumaric acid level, Fail... OMIM:606812
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Decr... ORPHA:367
Lipodystrophy, Partial, Acquired, Susceptibility To
Hepatic steatosis, Polycystic ovaries, Proteinuria, Hematuria, Membranoproliferative glomerulonep... OMIM:608709
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Cholestasis, Acute hepatic failure, Decreased activity of mitochondrial complex IV, Hepatic steat... OMIM:256810
Muscular Dystrophy, Congenital, With Or Without Seizures
Type I diabetes mellitus, Respiratory distress, Hypotonia, Appendicular hypotonia, Dysphagia, Ata... OMIM:620166
Combined Oxidative Phosphorylation Deficiency 9
Failure to thrive, Elevated circulating aspartate aminotransferase concentration, Hepatic steatos... OMIM:614582
Combined Oxidative Phosphorylation Deficiency 34
Hepatic failure, Elevated circulating thyroid-stimulating hormone concentration, Failure to thriv... OMIM:617872
Mitochondrial Complex Iv Deficiency, Nuclear Type 6
Hypotonia, Lower limb spasticity, Hepatic steatosis OMIM:615119
Infantile Liver Failure Syndrome 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Generalized hypotonia... OMIM:615438
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Spastic paraparesis, Elevated circulating hepatic transaminase concentration, Micronodular cirrho... ORPHA:309854
Methylmalonic Aciduria, Cbla Type
Ketonuria, Failure to thrive, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity... OMIM:251100
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape, Spasticity, Cerebellar atrophy, Infantile axial hypotonia, Dysphagia ORPHA:485421
Myotubular Myopathy With Abnormal Genital Development
Bilateral cryptorchidism, Respiratory distress, Glandular hypospadias, Hypotonia, Generalized hyp... OMIM:300219
Wilson Disease
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hepatitis, Acute hepa... ORPHA:905
Infantile-Onset X-Linked Spinal Muscular Atrophy
Tongue fasciculations, Abnormal anterior horn cell morphology, Generalized hypotonia, Respiratory... ORPHA:1145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Hand tremor, Gait ataxia, Rigidity, Parkinsonism, Parkinsonism with favorable res... OMIM:157640
3-Hydroxyacyl-Coa Dehydrogenase Deficiency
Dicarboxylic aciduria, Generalized hypotonia, Hypotonia, Hepatic necrosis, Fulminant hepatic fail... OMIM:231530
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Neonatal hypotonia, Lipid accumulation in hepatocytes, Agenesis of corpus callosum, Elevated circ... OMIM:608836
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated circulating hepatic transaminase concentration, Chorea, Hepatic steatosis, Infantile mus... ORPHA:369840
Macrocephaly-Intellectual Disability-Autism Syndrome
Hypotonia, Thyroid carcinoma, Penile freckling, Hepatic steatosis, Attention deficit hyperactivit... ORPHA:210548
Congenital Disorder Of Glycosylation, Type Iir
Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Decreased liver ... OMIM:301045
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Respiratory distress, Nocturnal hypoventilation, Hypotonia, Death in child... OMIM:211530
Cholesteryl Ester Storage Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Hepatic failure, Periportal fibrosis, Failure to thr... OMIM:278000
3-Methylglutaconic Aciduria, Type Viib
Spasticity, Cerebellar atrophy, Neonatal hypotonia, Cerebral atrophy, Respiratory distress, Hypot... OMIM:616271
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea ORPHA:1832
Multiple Mitochondrial Dysfunctions Syndrome 1
Increased urine alpha-ketoglutarate concentration, Hyperglycinuria, Facial paralysis, Failure to ... OMIM:605711
Parkinson Disease 20, Early-Onset
Cerebral cortical atrophy, Involuntary movements, Tremor, Rigidity, Dystonia, Parkinsonism, Brady... OMIM:615530
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Spasticity, Cerebellar atrophy, Failure to thrive, Generalized hypotonia, Respiratory distress, H... ORPHA:544503
Young-Onset Parkinson Disease
Spasticity, Restless legs, Tremor, Rigidity, Dystonia, Impulsivity, Bradykinesia, Agitation ORPHA:2828
Triosephosphate Isomerase Deficiency
Spasticity, Cholelithiasis, Failure to thrive, Cerebral atrophy, Generalized hypotonia, Respirato... OMIM:615512
Multiple System Atrophy 1, Susceptibility To
Neurodegeneration, Tremor, Rigidity, Babinski sign, Parkinsonism, Ataxia, Urinary incontinence, B... OMIM:146500
Waisman Syndrome
Resting tremor, Cogwheel rigidity, Rigidity, Parkinsonism, Parkinsonism with favorable response t... OMIM:311510
Mitochondrial Complex I Deficiency, Nuclear Type 20
Hepatic failure, Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, ... OMIM:611126
N-Acetylglutamate Synthase Deficiency
Failure to thrive, Respiratory distress, Aggressive behavior, Lethargy, Tachypnea, Hypertonia, An... OMIM:237310
Mitochondrial Complex I Deficiency, Nuclear Type 29
Failure to thrive, Mitochondrial swelling, Stage 5 chronic kidney disease, Decreased activity of ... OMIM:618250
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Global brain atrophy, Hypopnea, Failure to thrive, Cerebral atrophy, Cerebellar atrop... OMIM:618426
Bardet-Biedl Syndrome 19
Renal hypoplasia, Hypogonadism, Obesity, Renal insufficiency, Hepatic steatosis, Hydronephrosis OMIM:615996
Combined Oxidative Phosphorylation Deficiency 24
Focal segmental glomerulosclerosis, Spasticity, Cerebellar atrophy, Generalized hypotonia, Neurod... OMIM:616239
Diarrhea 13
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive OMIM:620357
Adrenomyodystrophy
Failure to thrive, Megacystis, Hypotonia, Primary adrenal insufficiency, Hepatic steatosis ORPHA:977
Tetanus
Elevated urinary norepinephrine level, Respiratory distress, Tremor, Rigidity, Opisthotonus, Tach... ORPHA:3299
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Agenesis of corpus callosum OMIM:619466
Alfadhel Syndrome
Spastic paraplegia, Horseshoe kidney, Aggressive behavior, Nasal flaring, Axial hypotonia OMIM:620655
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Rigidity, Parkinsonism, Parkinsonism with favorable response to dopaminergic medi... OMIM:607060
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:71212
Dietary Iron Overload Disease
Hepatic bridging fibrosis, Hepatic fibrosis, Abnormal thyroid morphology, Hepatitis, Abnormal pan... ORPHA:139507
Immunodeficiency 95
Respiratory distress OMIM:619773
Kufor-Rakeb Syndrome
Blepharospasm, Urinary incontinence, Cerebral cortical atrophy, Oculogyric crisis, Myoclonus, Rig... ORPHA:306674
Supranuclear Palsy, Progressive, 1
Cerebral atrophy, Retrocollis, Limb dystonia, Tremor, Rigidity, Axial dystonia, Parkinsonism, Neu... OMIM:601104
Methylmalonic Aciduria, Cblb Type
Ketonuria, Failure to thrive, Methylmalonic aciduria, Decreased methylmalonyl-CoA mutase activity... OMIM:251110
Bronchopulmonary Dysplasia
Respiratory distress, Diaphragmatic paralysis, Central apnea, Dyspnea, Small for gestational age ORPHA:70589
3-Methylglutaconic Aciduria, Type V
3-Methylglutaric aciduria, Failure to thrive, Elevated circulating aspartate aminotransferase con... OMIM:610198
Moebius Syndrome
Respiratory distress, Decreased testicular size, Clumsiness, Hypogonadotropic hypogonadism, Infan... OMIM:157900
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Neonatal death, Severe muscular hypotonia, Lethargy, Decreased activity of mitoc... OMIM:618232
Dpm1-Cdg
Hepatic fibrosis, Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar... ORPHA:79322
Auriculocondylar Syndrome 2A
Respiratory distress, Hypotonia, Apnea OMIM:614669
Citrullinemia Type Ii
Hepatic fibrosis, Decreased body mass index, Elevated circulating hepatic transaminase concentrat... ORPHA:247585
Alternating Hemiplegia Of Childhood
Oral-pharyngeal dysphagia, Tetraparesis, Abnormal pyramidal sign, Anorexia, Ataxia, Dysphagia, Ch... ORPHA:2131
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated circulating hepatic transaminase concentration, Abnormality of the mitochondrion, Hypogo... ORPHA:298
Recurrent Respiratory Papillomatosis
Failure to thrive, Respiratory distress, Tachypnea, Dyspnea, Choking episodes, Dysphagia ORPHA:60032
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape, Hypotonia OMIM:610773
Mitochondrial Dna-Associated Leigh Syndrome
Spasticity, Hepatic failure, Failure to thrive, Chorea, Apnea, Gait ataxia, Abnormality of Krebs ... ORPHA:255210
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Elevated circulating thyroid-stimulating hormone concentration, Neonatal hypotonia, Goiter, Respi... ORPHA:226313
Malaria
Respiratory distress, Acute kidney injury ORPHA:673
Nipah Virus Disease
Respiratory distress, Myoclonus, Tremor, Anorexia ORPHA:99825
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Parkinsonism, Bradykinesia, Resting tremor, Rigidity OMIM:614251
Parkinson Disease 21
Parkinsonism, Bradykinesia, Tremor, Rigidity OMIM:616361
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Tubulointerstitial fibrosis, Failure to thrive OMIM:263000
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Acute hepatic failure, 3-Methylglutaconic aciduria, Neuronal loss in central nervou... OMIM:203700
Familial Partial Lipodystrophy, Köbberling Type
Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mel... ORPHA:79084
Thyroid Lymphoma
Goiter, Respiratory distress, Hashimoto thyroiditis, Hypothyroidism, Hyperthyroidism, Dyspnea, Dy... ORPHA:97285
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Aminoaciduria, Failure to thrive, Decreased liver function, Glycosuria, Generalized hypotonia, Hy... ORPHA:436271
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Failure to thrive, Methylmalonic aciduria, Respiratory distress, Hypotonia, Stage 5 chronic kidne... OMIM:251000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Respiratory distress, Elevated circulating aspartate aminotransferase concentration, Increased in... OMIM:620375
Cimdag Syndrome
Spasticity, Cholelithiasis, Cerebral atrophy, Hypogonadism, Chorea, Hypotonia, Death in early adu... OMIM:619273
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Hypotonia, Failure to thrive ORPHA:261304
Episodic Ataxia Type 1
Cerebellar atrophy, Respiratory distress, Clumsiness, Hypertonia, Poor coordination, Choreoathetosis ORPHA:37612
Fructose-1,6-Bisphosphatase Deficiency
Elevated circulating hepatic transaminase concentration, Increased urinary glycerol, Respiratory ... ORPHA:348
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Spastic paraplegia, Polydipsia, Cerebral palsy, Hyperaldosteronism, Adrenal hyperplasia, Nephroli... ORPHA:369929
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Decreased response to growth hormone stimulation test OMIM:245590
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Urinary bladder sphincter dysfunction, Fasciculations, Hepatic ste... ORPHA:52430
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Elevated circulating thyroid-stimulating hormone concentration, Generalized hypotonia, Respirator... OMIM:610978
Plin1-Related Familial Partial Lipodystrophy
Hepatic fibrosis, Hyperinsulinemia, Hepatic steatosis, Polycystic ovaries, Abnormal circulating h... ORPHA:280356
Supranuclear Palsy, Progressive, 2
Postural tremor, Retrocollis, Axial dystonia, Rigidity, Parkinsonism, Neuronal loss in central ne... OMIM:609454
Gm2-Gangliosidosis, Ab Variant
Cerebral atrophy, Generalized hypotonia, Neurodegeneration, Chorea, GM2-ganglioside accumulation,... OMIM:272750
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Aminoaciduria, Spasticity, Periportal fibrosis, Elevated circulating hepatic transaminase concent... OMIM:124000
Dilated Cardiomyopathy With Ataxia
Elevated circulating hepatic transaminase concentration, Neonatal hypotonia, Bilateral cryptorchi... ORPHA:66634
Carnitine Palmitoyltransferase I Deficiency
Elevated circulating hepatic transaminase concentration, Ketonuria, Dicarboxylic aciduria, Genera... OMIM:255120
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy
Intrahepatic cholestasis, Spasticity, Hepatic fibrosis, Failure to thrive, Decreased liver functi... OMIM:617093
Congenital Disorder Of Glycosylation, Type Ia
Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Proximal tubulopathy, ... OMIM:212065
Succinic Acidemia
Respiratory distress OMIM:600335
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Maternal diabetes, Large for gestational age ORPHA:45452
Peripheral Neuropathy With Variable Spasticity, Exercise Intolerance, And Developmental Delay
Spasticity, Failure to thrive, Glycosuria, Exocrine pancreatic insufficiency, Hypotonia, Decrease... OMIM:616539
X-Linked Centronuclear Myopathy
Respiratory distress, Severe muscular hypotonia, Neonatal hypotonia ORPHA:596
Barth Syndrome
Failure to thrive, 3-Methylglutaconic aciduria, Abnormal mitochondrial morphology OMIM:302060
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome
Primary gonadal insufficiency, Hepatic steatosis, Insulin-resistant diabetes mellitus ORPHA:436182
Interstitial Lung And Liver Disease
Aminoaciduria, Hepatic fibrosis, Hepatic failure, Failure to thrive, Cholestasis, Elevated circul... OMIM:615486
Acyl-Coa Dehydrogenase 9 Deficiency
Decreased circulating carnitine concentration, Elevated circulating hepatic transaminase concentr... ORPHA:99901
Acquired Partial Lipodystrophy
Proteinuria, Microscopic hematuria, Hepatic steatosis ORPHA:79087
Mucopolysaccharidosis-Plus Syndrome
Focal segmental glomerulosclerosis, Nephritis, Respiratory distress, Hypotonia, Brain atrophy, Sp... OMIM:617303
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Hepatic failure, Ketonuria, Increased hepatic echogenicity, Cerebral atrophy, Apnea, Hepatic stea... OMIM:261680
Acth-Independent Macronodular Adrenal Hyperplasia
Increased circulating cortisol level, Decreased circulating ACTH concentration, Macronodular adre... OMIM:219080
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Renal salt wasting, Adrenogenital syndrome, Hypospadias OMIM:201710
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number, Exertional dyspnea, Decreased muscle glycogen content ORPHA:263297
Hypermethioninemia Due To Adenosine Kinase Deficiency
Portal fibrosis, Failure to thrive, Cerebral atrophy, Cholestasis, Hypotonia, Hepatic steatosis, ... OMIM:614300
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Hepatic failure, Red-brown urine, Dicarboxylic aciduria, Generalized hypotonia, Decreased plasma ... ORPHA:228308
Congenital Disorder Of Deglycosylation 1
Oral-pharyngeal dysphagia, Action tremor, 3-Methylglutaconic aciduria, Decreased body weight, Hep... OMIM:615273
Microlissencephaly-Micromelia Syndrome
Abnormal circulating calcium-phosphate regulating hormone concentration, Failure to thrive, Respi... ORPHA:50810
Infantile Krabbe Disease
Spasticity, Failure to thrive, Respiratory distress, Infantile axial hypotonia, Myoclonus, Ankle ... ORPHA:206436
Rajab Interstitial Lung Disease With Brain Calcifications 2
Elevated circulating hepatic transaminase concentration, Generalized hypotonia, Hypopituitarism, ... OMIM:619013
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Neonatal hypotonia, Respiratory distress, Speech apraxia, Apnea, Myoclonus, Hypoventilation, Seve... ORPHA:314655
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Elevated circulating hepatic transaminase concentration, Respiratory distress, Episodic tachypnea... ORPHA:26793
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy, Generalized hypotonia OMIM:602541
Phosphoenolpyruvate Carboxykinase Deficiency, Mitochondrial
Hepatic failure, Hepatic steatosis OMIM:261650
Congenital Disorder Of Glycosylation, Type It
Intrahepatic cholestasis, Elevated circulating hepatic transaminase concentration, Hepatitis, Ele... OMIM:614921
Congenital Disorder Of Glycosylation, Type Ig
Failure to thrive, Generalized hypotonia, Respiratory distress, Hypotonia, Cryptorchidism, Lethar... OMIM:607143
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Neonatal hypotonia ORPHA:86812
3-Hydroxy-3-Methylglutaric Aciduria
3-Methylglutaric aciduria, Spasticity, Elevated circulating hepatic transaminase concentration, K... ORPHA:20
Combined Oxidative Phosphorylation Deficiency 37
Spasticity, Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Failure ... OMIM:618329
Congenital Bile Acid Synthesis Defect Type 2
Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, F... ORPHA:79303
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Hepatic fibrosis, Portal fibrosis, Elevated circulating hepatic transaminase concentration, Failu... ORPHA:264580
Japanese Encephalitis
Pill-rolling tremor, Abnormal pattern of respiration, Respiratory distress, Anorexia, Cogwheel ri... ORPHA:79139
Lipodystrophy, Familial Partial, Type 4
Hepatic steatosis, Insulin-resistant diabetes mellitus, Miscarriage OMIM:613877
19P13.12 Microdeletion Syndrome
Self-injurious behavior, Precocious puberty, Obesity, Hypotonia, Hepatic steatosis, Cryptorchidis... ORPHA:254346
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy, Failure to thrive OMIM:619518
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Hepatic failure, Elevated circulating hepatic transaminase concentration, Failure to thrive, Resp... OMIM:617156
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Cerebral atrophy, Ge... OMIM:615356
Triokinase And Fmn Cyclase Deficiency Syndrome
Failure to thrive in infancy, Hepatic steatosis, Pancreatitis, Elevated circulating alanine amino... OMIM:618805
Hemochromatosis, Type 4
Hepatomegaly, Cirrhosis, Diabetes mellitus, Hepatic steatosis OMIM:606069
Arima Syndrome
Hepatic fibrosis, Nephronophthisis, Polydipsia, Generalized hypotonia, Hypotonia, Stage 5 chronic... OMIM:243910
Familial Hyperaldosteronism Type I
Polydipsia, Secretory adrenocortical adenoma, Dexamethasone-suppressible primary hyperaldosteroni... ORPHA:403
Gaucher Disease, Perinatal Lethal
Hepatic failure, Respiratory distress, Hepatosplenomegaly, Apnea, Splenomegaly, Decreased body we... OMIM:608013
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Fasciculations ORPHA:1143
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Mitochondrial swelling ORPHA:397744
Diaphanospondylodysostosis
Respiratory distress, Multiple renal cysts ORPHA:66637
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Premature adrenarche, Elevated circulating 17-hydroxyprogesterone concentration, Failure to thriv... ORPHA:90791
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Elevated circulating luteinizing hormone level, Absence of pubertal development, Ovarian cyst, De... ORPHA:90793
Mercury Poisoning
Acute kidney injury, Respiratory distress, Tremor, Anorexia, Dyspnea, Dystonia ORPHA:330021
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypotonia, Gait ataxia, Attention deficit hyperactivity disorder, Hepatomegaly OMIM:619383
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Renal salt wasting, Elevated circulating 21-deoxycortisol concentration, Adr... OMIM:201910
Severe Acute Respiratory Syndrome
Respiratory distress, Acute kidney injury, Dyspnea, Diabetes mellitus ORPHA:140896
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Lethargy, Tachypnea, Addictive alcohol use, Increased circulating procalcit... ORPHA:36238
Growth Delay-Intellectual Disability-Hepatopathy Syndrome
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:541423
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Hepatic failure, Elevated circulating hepatic transaminase concentration, Red-brown urine, Decrea... ORPHA:228305
Farber Disease
Hepatic fibrosis, Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentr... ORPHA:333
Lipodystrophy, Congenital Generalized, Type 3
Hepatosplenomegaly, Splenomegaly, Hepatic steatosis, Hepatomegaly, Diabetes mellitus OMIM:612526
Familial Nasal Acilia
Respiratory distress, Dyspnea, Abnormal respiratory motile cilium morphology ORPHA:922
Carnitine-Acylcarnitine Translocase Deficiency
Elevated circulating hepatic transaminase concentration, Dicarboxylic aciduria, Generalized hypot... OMIM:212138
Gracile Syndrome
Cholestasis, Death in early adulthood, Hepatic steatosis, Renal Fanconi syndrome, Cirrhosis, Elev... ORPHA:53693
Cryptogenic Organizing Pneumonia
Respiratory distress, Dyspnea, Weight loss, Anorexia ORPHA:1302
Idiopathic Copper-Associated Cirrhosis
Increased urinary copper concentration, Cirrhosis, Hepatic steatosis, Copper accumulation in liver ORPHA:209919
D-Bifunctional Protein Deficiency
Elevated circulating hepatic transaminase concentration, Cerebellar atrophy, Failure to thrive, N... OMIM:261515
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Pituitary adenoma, Increased circulating cortisol level, Neuroendocrine neoplasm, Increased urina... ORPHA:189427
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Elevated circulating hepatic transaminase concentration, Failure to thrive, Generalized hypotonia... ORPHA:329178
Chronic Pneumonitis Of Infancy
Intercostal retractions, Failure to thrive, Respiratory distress, Tachypnea, Hyperventilation ORPHA:91359
Neurodegeneration And Seizures Due To Copper Transport Defect
Cerebellar atrophy, Cerebral atrophy, Respiratory distress, Glandular hypospadias, Lethargy, Limb... OMIM:620306
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Tachypnea, Dyspnea OMIM:267450
Laryngomalacia
Respiratory distress OMIM:150280
Patent Ductus Venosus
Hepatic steatosis, Decreased liver function OMIM:601466
Wilson Disease
Acute hepatic failure, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevated circulating alanine ... OMIM:277900
Familial Hyperaldosteronism Type Iii
Polydipsia, Adrenal hyperplasia, Abnormal circulating renin, Hypercalciuria, Glucocortocoid-insen... ORPHA:251274
Lipodystrophy, Familial Partial, Type 6
Diabetes mellitus, Hepatic steatosis, Abdominal obesity OMIM:615980
Acute Lung Injury
Respiratory distress, Addictive alcohol use, Tachypnea, Dyspnea, Acute pancreatitis ORPHA:178320
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1
Hepatic fibrosis, Cerebellar atrophy, Failure to thrive, Exocrine pancreatic insufficiency, Hypot... OMIM:616263
Diaphanospondylodysostosis
Generalized hypotonia, Respiratory distress, Horseshoe kidney, Hypotonia, Enlarged kidney, Cystic... OMIM:608022
Aicardi-Goutieres Syndrome 7
Cerebellar atrophy, Hepatitis, Cerebral atrophy, Tetraparesis, Generalized hypotonia, Hypotonia, ... OMIM:615846
Citrullinemia, Type Ii, Adult-Onset
Hepatic fibrosis, Portal inflammation, Ballooning hepatocyte degeneration, Hepatic steatosis, Pan... OMIM:603471
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Abnormal temper tantrums, Head-banging, Lateral ventricle dilatation, ... ORPHA:177907
3-Methylglutaconic Aciduria, Type Viii
3-Methylglutaric aciduria, Hypopnea, Failure to thrive, Cerebral atrophy, Generalized hypotonia, ... OMIM:617248
Porphyria Cutanea Tarda
Periportal fibrosis, Elevated circulating hepatic transaminase concentration, Portal inflammation... ORPHA:101330
Laryngotracheal Angioma
Respiratory distress, Apnea, Intercostal retractions ORPHA:137935
Peroxisome Biogenesis Disorder 11A (Zellweger)
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:614883
Autoimmune Polyendocrinopathy Type 1
Abnormal circulating calcium-phosphate regulating hormone concentration, Increased circulating co... ORPHA:3453
Infantile Liver Failure Syndrome 3
Hepatic bridging fibrosis, Elevated circulating hepatic transaminase concentration, Cholestasis, ... OMIM:618641
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased circulating cortisol level, Primary hypercortisolism, Adrenal hyperplasia, Increased bo... OMIM:615830
Odontochondrodysplasia 1
Respiratory distress, Nephronophthisis, Polycystic kidney dysplasia, Death in infancy OMIM:184260
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells, Generalized hypotonia OMIM:271225
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Hepatomegaly, Splenomegaly ORPHA:2414
Avian Influenza
Acute kidney injury, Elevated circulating hepatic transaminase concentration, Hepatitis, Respirat... ORPHA:454836
Progeria-Short Stature-Pigmented Nevi Syndrome
Decreased serum estradiol, Elevated circulating hepatic transaminase concentration, Insulin-resis... ORPHA:2959
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Cholestasis, Hypotonia, Babinski sign, Lethargy, Chronic hepatic fa... ORPHA:746
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Ataxia, Respiratory distress, Severe muscular hypotonia, Exaggerated startle response, Facial hyp... ORPHA:438216
Adnp Syndrome
Abnormal temper tantrums, Generalized neonatal hypotonia, Cerebral atrophy, Oral-pharyngeal dysph... ORPHA:404448
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Accessory spleen, Cholestatic liver disease, Failure to thrive, Polysplenia, Failure to thrive in... OMIM:619418
Immunodeficiency 47
Hepatic bridging fibrosis, Hepatic fibrosis, Accessory spleen, Elevated circulating hepatic trans... OMIM:300972
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Dyspnea, Weight loss ORPHA:411703
Hyperaldosteronism, Familial, Type Iii
Polydipsia, Hyperaldosteronism, Adrenal hyperplasia, Decreased circulating renin level, Hypercalc... OMIM:613677
Pearson Syndrome
Hepatic steatosis, Ataxia, Hypoparathyroidism, Hepatomegaly, Dysphagia, Hypoplastic spleen, Decre... ORPHA:699
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Failure to thrive in infancy, Tachypnea ORPHA:264675
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spasticity, Neurodegeneration, Hepatic steatosis, Decreased body weight, Hematuria, Progressive s... OMIM:619475
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Lethargy, Elevated circulating hepatic transaminase concentration, Macrovesicular h... OMIM:600649
Surfactant Metabolism Dysfunction, Pulmonary, 3
Failure to thrive, Respiratory distress, Apnea, Death in infancy, Neonatal death, Tachypnea, Exer... OMIM:610921
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Generalized hypotonia, Respiratory distress, Hypotonia, Cryptorchidism, Agenesis of corpus callos... OMIM:217980
Congenital Generalized Lipodystrophy
Precocious puberty in females, Failure to thrive, Hyperinsulinemia, Hepatic steatosis, Polycystic... ORPHA:528
Acth-Independent Macronodular Adrenal Hyperplasia 2
Increased circulating cortisol level, Increased urinary cortisol level, Decreased circulating ACT... OMIM:615954
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Action tremor, Lingual dystonia, Hepatomegaly, Generalized aminoaciduria, Cerebral atrophy, Chore... ORPHA:404454
Mogs-Cdg
Respiratory distress, Hepatosplenomegaly, Apnea, Hypoventilation, Dystonia, Hypothyroidism, Infan... ORPHA:79330
Autoimmune Hepatitis
Elevated circulating hepatic transaminase concentration, Viral hepatitis, Splenomegaly, Sclerosin... ORPHA:2137
Hypercholesterolemia Due To Cholesterol 7Alpha-Hydroxylase Deficiency
Acute hepatic steatosis, Hepatitis, Cholestasis, Obesity, Hepatic steatosis, Cholesterol gallston... ORPHA:209902
Mgat2-Cdg
Failure to thrive, Generalized hypotonia, Respiratory distress, Hypotonia, Stereotypical hand wri... ORPHA:79329
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Male hypogonadism, Elevated circulating hepatic transaminase concentration, Hepatic steatosis, Cr... OMIM:615381
Familial Hyperaldosteronism Type Ii
Abnormal circulating renin, Secretory adrenocortical adenoma, Adrenal hyperplasia, Glucocortocoid... ORPHA:404
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Spasticity, Ketonuria, Failure to thrive, Hypotonia, Decreased activity of mitochondrial complex ... OMIM:220111
Biotinidase Deficiency
Spastic paraparesis, Organic aciduria, Respiratory distress, Hypotonia, Apnea, Lethargy, Ataxia, ... ORPHA:79241
Lipodystrophy, Familial Partial, Type 3
Insulin-resistant diabetes mellitus, Hyperinsulinemia, Type II diabetes mellitus, Hepatic steatos... OMIM:604367
Neuromuscular Oculoauditory Syndrome
Generalized hypotonia, Respiratory distress, Reduced renal corticomedullary differentiation, Agen... OMIM:618733
Chitayat Syndrome
Respiratory distress, Generalized hypotonia OMIM:617180
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Supernumerary nipple, Respiratory distress, Congenital hypothyroidism, Cryptorchidism, Infantile ... ORPHA:2519
Synaptic Congenital Myasthenic Syndromes
Frequent falls, Respiratory distress, Hypotonia, Hypoventilation, Exertional dyspnea, Dysphagia ORPHA:98915
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Cerebral cortical atrophy, Spasticity, Lateral ventricle dilatation, Large for gestational age, H... OMIM:300868
Congenital Lobar Emphysema
Respiratory distress ORPHA:1928
Smith-Lemli-Opitz Syndrome
Hepatic steatosis, Cryptorchidism, Cirrhosis, Hepatomegaly, Hypospadias, Precocious puberty, Glob... OMIM:270400
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hypotonia, Lateral ventricle dilatation, Agenesis of corpus callosum OMIM:612863
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Failure to thrive, Hepatocellular necrosis, Hepatosplenomegaly, Myoclonus, Death in childhood, Mi... OMIM:618278
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Elevated circulating luteinizing hormone level, Cryptorchidism, Adrenal hyperplasia, Polycystic o... ORPHA:95699
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ketonuria, Failure to thrive, Methylmalonic aciduria, Cerebral atrophy, Respiratory distress, Hyp... ORPHA:79282
Gitelman Syndrome
Type II diabetes mellitus, Parathyroid adenoma, Tubulointerstitial nephritis, Urinary incontinenc... ORPHA:358
Primary Unilateral Adrenal Hyperplasia
Polydipsia, Increased urinary potassium, Adrenal hyperplasia, Decreased circulating renin level, ... ORPHA:231580
Pparg-Related Familial Partial Lipodystrophy
Insulin-resistant diabetes mellitus, Splenomegaly, Hepatic steatosis, Polycystic ovaries, Cirrhos... ORPHA:79083
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Failure to thrive, Oligosacchariduria, Respiratory distress, Facial hypotonia, Elevated circulati... ORPHA:308552
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)
Depletion of mitochondrial DNA in liver, Cholestasis, Elevated circulating aspartate aminotransfe... OMIM:618528
Sepsis In Premature Infants
Oliguria, Neonatal hypotonia, Decreased liver function, Reversible renal failure, Splenomegaly, D... ORPHA:90051
Neutral Lipid Storage Disease With Myopathy
Elevated circulating hepatic transaminase concentration, Fasciculations, Generalized hypotonia, H... OMIM:610717
Rajab Interstitial Lung Disease With Brain Calcifications 1
Elevated circulating hepatic transaminase concentration, Failure to thrive, Decreased liver funct... OMIM:613658
Bloom Syndrome
Chromosome breakage, Abnormality of chromosome stability, Azoospermia, Type II diabetes mellitus,... OMIM:210900
Chanarin-Dorfman Syndrome
Hepatomegaly, Hepatic steatosis, Ataxia OMIM:275630
Hyperaldosteronism, Familial, Type I
Hyperaldosteronism, Adrenogenital syndrome, Adrenal hyperplasia, Decreased circulating renin level OMIM:103900
Parenteral Nutrition-Associated Cholestasis
Hepatic fibrosis, Cholelithiasis, Hepatic failure, Elevated circulating hepatic transaminase conc... ORPHA:567983
Esophageal Atresia
Vocal cord paresis, Respiratory distress, Failure to thrive in infancy, Hypotonia, Oral aversion,... ORPHA:1199
Congenital Myasthenic Syndrome
Hypotonia, Episodic respiratory distress, Ataxia, Apneic episodes precipitated by illness, fatigu... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Hypotonia, Episodic respiratory distress, Ataxia, Apneic episodes precipitated by illness, fatigu... ORPHA:98914
Neuroblastoma
Elevated circulating catecholamine level, Elevated urinary homovanillic acid, Respiratory distres... ORPHA:635
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Type I diabetes mellitus, Elevated circulating hepatic transaminase concentration, Hepatitis, Res... ORPHA:37042
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea ORPHA:2759
Hypoglossia With Situs Inversus
Respiratory distress, Asplenia, Polysplenia OMIM:612776
Agnathia-Otocephaly Complex
Respiratory distress, Agenesis of corpus callosum OMIM:202650
Q Fever
Elevated circulating hepatic transaminase concentration, Hepatitis, Respiratory distress, Hepatos... ORPHA:781
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Hypoplasia of penis, Agenesis of corpus callosum ORPHA:990
Tuberous Sclerosis Complex
Chronic kidney disease, Self-injurious behavior, Pituitary adenoma, Respiratory distress, Pheochr... ORPHA:805
Craniofaciofrontodigital Syndrome
Respiratory distress, Hypotonia, Large for gestational age, Hemiparesis, Dyspnea ORPHA:363705
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Homocystinuria, Failure to thrive, Hepatic steatosis, Pancreatitis, Methioninuria OMIM:236200
Pigmented Nodular Adrenocortical Disease, Primary, 3
Increased circulating cortisol level, Adrenal hyperplasia OMIM:614190
Fanconi-Bickel Syndrome
Nephropathy, Generalized aminoaciduria, Hepatic failure, Nephrocalcinosis, Failure to thrive, Gly... ORPHA:2088
3-Hydroxy-3-Methylglutaryl-Coa Synthase-2 Deficiency
Elevated circulating hepatic transaminase concentration, Elevated urinary 3-hydroxybutyric acid, ... OMIM:605911
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Absent inner and outer dynein arms OMIM:606763
Toxic Epidermal Necrolysis
Elevated circulating hepatic transaminase concentration, Abnormality of the urethra, Polydipsia, ... ORPHA:537
Akt2-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:79085
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Generalized hypotonia OMIM:617895
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Hypotonia, Death in childhood, Death in infancy, Dysphagia OMIM:620278
Shwachman-Diamond Syndrome 1
Nephrocalcinosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, Res... OMIM:260400
Cidec-Related Familial Partial Lipodystrophy
Decreased adiponectin level, Insulin-resistant diabetes mellitus, Hepatic steatosis, Polycystic o... ORPHA:435651
Oxoglutaric Aciduria
Abnormal urine alpha-ketoglutarate concentration, Abnormality of Krebs cycle metabolism, Hyperton... ORPHA:31
1P36 Deletion Syndrome
Abnormality of the spleen, Hepatic steatosis, Cryptorchidism, Agenesis of corpus callosum, Polyph... ORPHA:1606
Lipodystrophy, Familial Partial, Type 5
Decreased adiponectin level, Hepatic steatosis, Hepatomegaly, Decreased serum leptin, Diabetic ke... OMIM:615238
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Failure to thrive, Abnormal circulating androgen level, Increased circulating ACTH level, Adrenal... ORPHA:90790
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Failure to thrive ORPHA:2707
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor, Proteinuria, Prolonged neonatal jaundice, Jaundice, Microscopic hem... OMIM:274150
Tularemia
Respiratory distress ORPHA:3392
Lipodystrophy, Congenital Generalized, Type 4
Elevated circulating hepatic transaminase concentration, Failure to thrive, Hyperinsulinemia, Spl... OMIM:613327
Tetrasomy 5P
Respiratory distress, Neonatal hypotonia, Failure to thrive ORPHA:3309
Familial Partial Lipodystrophy, Dunnigan Type
Splenomegaly, Hepatic steatosis, Polycystic ovaries, Pancreatitis, Hepatomegaly, Diabetes mellitus ORPHA:2348
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease
Hypospadias, Multicystic kidney dysplasia, Elevated circulating hepatic transaminase concentratio... ORPHA:93111
Glycogen Storage Disease Due To Acid Maltase Deficiency
Failure to thrive, Oligosacchariduria, Respiratory distress, Facial hypotonia, Exertional dyspnea... ORPHA:365
Neutral Lipid Storage Disease With Ichthyosis
Elevated circulating hepatic transaminase concentration, Central nervous system degeneration, Mic... ORPHA:98907
Maternal Uniparental Disomy Of Chromosome 6
Congenital adrenal hyperplasia, Hydrocele testis, Increased serum testosterone level, Miscarriage ORPHA:96181
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Self-injurious behavior, Oral motor hypotonia, Obesity, Aggressive behavior, Attention deficit hy... ORPHA:466943
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Urinary incontinence, Central apnea, Neonatal death OMIM:616482
Osteootohepatoenteric Syndrome
Hepatic fibrosis, Portal fibrosis, Failure to thrive, Cholestasis, Microvesicular hepatic steatos... OMIM:619377
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency
Elevated circulating 17-hydroxyprogesterone concentration, Microphallus, Adrenal insufficiency, I... OMIM:201810
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Congenital Laryngeal Web
Respiratory distress ORPHA:2374
Chylomicron Retention Disease
Hepatic steatosis, Elevated circulating hepatic transaminase concentration, Failure to thrive, In... ORPHA:71
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenogenital syndrome, Adrenal hyperplasia OMIM:202110
Acquired Methemoglobinemia
Respiratory distress, Dyspnea ORPHA:464453
Neutral Lipid Storage Myopathy
Elevated circulating hepatic transaminase concentration, Fasciculations, Generalized hypotonia, C... ORPHA:98908
Lujo Hemorrhagic Fever
Elevated circulating hepatic transaminase concentration, Oliguria, Resting tremor, Respiratory di...