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Gene: Slc6a9 MGI:95760

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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:
solute carrier family 6 (neurotransmitter transporter, glycine), member 9
Synonyms:
Glyt1,  Glyt-1

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 Slc6a9 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 Slc6a9 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Axial hypotonia, Apnea, Clonus, Respiratory failure, Hypertonia, Dy... OMIM:617301

The table below shows human diseases predicted to be associated to Slc6a9 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Triglyceride Storage Disease, Type Ii
Obesity OMIM:190430
Maturity-Onset Diabetes Of The Young, Type 11
Overweight, Obesity OMIM:613375
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Obesity
Increased waist to hip ratio, Obesity OMIM:601665
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress, Tremor, Rigidity, Neuromuscular dysphagia, Depression, Bradykinesia, Apathy... ORPHA:240085
Spermatogenic Failure, X-Linked, 1
Obesity OMIM:305700
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress, Apraxia, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal py... ORPHA:240103
Ravine Syndrome
Apnea, Ataxia, Anorexia, Abnormal auditory evoked potentials, Decreased body weight, Spasticity, ... ORPHA:99852
Abdominal Obesity-Metabolic Syndrome 1
Abdominal obesity OMIM:605552
Abdominal Obesity-Metabolic Syndrome Quantitative Trait Locus 2
Abdominal obesity OMIM:605572
Mitochondrial Complex I Deficiency, Nuclear Type 3
Dystonia, Ataxia, Abnormal pyramidal sign, Respiratory insufficiency, Abnormality of extrapyramid... OMIM:618224
Classic Glucose Transporter Type 1 Deficiency Syndrome
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, EEG abnormality, Hyperton... ORPHA:71277
Rapid-Onset Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Torticollis, Parkinsonism, Depression, Bradykinesia, Gait ataxia, ... ORPHA:71517
Perry Syndrome
Hypoventilation, Central hypoventilation, Parkinsonism, Tremor, Rigidity, Respiratory insufficien... OMIM:168605
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Depression, Arm dystonia, Dysph... OMIM:619565
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract
Hypsarrhythmia, Apneic episodes in infancy, Infantile muscular hypotonia, Spasticity, Failure to ... ORPHA:500545
Dystonia 16
Torticollis, Postural tremor, Parkinsonism, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Lim... ORPHA:210571
Hemiparkinsonism-Hemiatrophy Syndrome
Parkinsonism, Tremor, Neonatal asphyxia, Depression, Bradykinesia, Hemiparesis, Generalized hypot... ORPHA:306669
Dystonia 16
Generalized dystonia, Postural tremor, Parkinsonism, Involuntary movements, Abnormal pyramidal si... OMIM:612067
Vitamin B12-Responsive Methylmalonic Acidemia
Hypotonia, Respiratory insufficiency, Dehydration, Lethargy, Failure to thrive ORPHA:28
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Restlessness, Resting tremor, Dystonia, Apnea, Axial hypotonia, Facial hypotonia, Ataxia, Tremor,... OMIM:300055
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Diminished motivation, Tremor, Dysmetria, Gait ataxia, Compulsive behaviors, Ataxia, Depression, ... OMIM:615157
Developmental And Epileptic Encephalopathy 40
Axial hypotonia, Small for gestational age, Spastic tetraparesis, Hypotonia, Hypsarrhythmia, Chor... OMIM:617065
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress, Anorexia, Hypotonia, Dehydration, Choreoathetosis, Dystonia, Lethargy, Fail... ORPHA:79312
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Resting tremor, Rigidity, Decreased compound muscle ac... OMIM:619279
Dystonia 12
Torticollis, Dystonia, Parkinsonism, Tremor, Depression, Bradykinesia, Dysphagia OMIM:128235
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Rigidity, Tremor, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Atypical Rett Syndrome
Episodic tachypnea, Tremor, Gait ataxia, Restrictive behavior, Sudden episodic apnea, Tongue thru... ORPHA:3095
Chronic Hiccup
Weight loss, Abnormal eating behavior, Dehydration, Depression ORPHA:396
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Death in infancy, Impulsivity, Aggressive behavior, Hypotonia, Myocl... OMIM:605899
Mitochondrial Complex I Deficiency, Nuclear Type 5
Axial hypotonia, Apnea, Ataxia, Babinski sign, Hypotonia, Respiratory insufficiency, Dysphagia, G... OMIM:618226
Severe Neonatal-Onset Encephalopathy With Microcephaly
Apnea, Involuntary movements, Multifocal epileptiform discharges, Respiratory insufficiency, EEG ... ORPHA:209370
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:613869
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Spasticity, Choreoathetosis, Hemiparesis, ... OMIM:606777
Mitochondrial Complex Iv Deficiency, Nuclear Type 8
Severe temper tantrums, Spastic tetraparesis, Hemidystonia, Abnormal pyramidal sign, Bradykinesia... OMIM:619052
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnorm... OMIM:613135
Juvenile Huntington Disease
Hyperactivity, Ataxia, Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Gait ataxia, Prog... ORPHA:248111
Hyperphenylalaninemia, Mild, Non-Bh4-Deficient
Axial hypotonia, Oculogyric crisis, Parkinsonism, Bradykinesia, Hypertonia, Attention deficit hyp... OMIM:617384
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Huntington Disease-Like 2
Rigidity, Chorea, Depression, Bradykinesia, Weight loss, Apathy, Dystonia, Inertia, Action tremor OMIM:606438
Huntington Disease
Clonus, Oral-pharyngeal dysphagia, Chorea, Compulsive behaviors, Decreased body mass index, Depre... ORPHA:399
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity OMIM:300911
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress, Hypotonia ORPHA:2680
Pontocerebellar Hypoplasia, Type 6
Appendicular spasticity, Lower limb spasticity, Axial hypotonia, Apnea, Hypotonia, Upper limb spa... OMIM:611523
Parkinson Disease 22, Autosomal Dominant
Restless legs, Resting tremor, Rigidity, Depression, Bradykinesia, Parkinsonism with favorable re... OMIM:616710
Mitochondrial Complex I Deficiency, Nuclear Type 6
Axial hypotonia, Apnea, Ataxia, Abnormal pyramidal sign, Hypotonia, Respiratory insufficiency, Ge... OMIM:618228
Spinocerebellar Ataxia Type 1
Dystonia, Postural tremor, Chorea, Slurred speech, Abnormal nerve conduction velocity, Dysmetria,... ORPHA:98755
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Restlessness, Dystonia, Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Depressio... ORPHA:13
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Dystonia, Hypertonia, Infantile muscular hypotonia, Lethargy, Failure to th... ORPHA:26792
Myoclonus, Intractable, Neonatal
Apnea, Chorea, Hypotonia, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation OMIM:617235
Huntington Disease-Like 1
Restlessness, Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Depressio... ORPHA:157941
Prader-Willi syndrome (Type 1)
Truncal obesity DECIPHER:14
Prader-Willi Syndrome (Type 2)
Truncal obesity DECIPHER:53
N-Acetylglutamate Synthase Deficiency
Respiratory distress, Lethargy, Failure to thrive, Aggressive behavior OMIM:237310
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Hypsarrhythmia OMIM:616341
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Park... OMIM:128230
Neurodegeneration With Brain Iron Accumulation 6
Rigidity, Spastic tetraplegia, Depression, Bradykinesia, Compulsive behaviors, Dystonia, Oromandi... OMIM:615643
Early Myoclonic Encephalopathy
Hypotonia, Hypsarrhythmia, EEG abnormality, Myoclonus, Dysphagia, Lethargy ORPHA:1935
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Axial hypotonia, Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, EEG abnorma... OMIM:300673
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Abnormal motor nerve conduction velocity, Diaphragmatic paralysis, Hypotoni... OMIM:614399
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia OMIM:611722
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Apnea, Hypotonia, Respiratory failure, Generalized hypotonia, Dystonia, Spasticity OMIM:616277
Lopes-Maciel-Rodan Syndrome
Dystonia, Axial hypotonia, Tremor, Abnormal pyramidal sign, Bruxism, Bradykinesia, Ankle clonus, ... OMIM:617435
Mitochondrial Complex I Deficiency, Nuclear Type 4
Apnea, Ataxia, Hypotonia, Myoclonus, Death in childhood, Lethargy, Spasticity OMIM:618225
Leukoencephalopathy, Motor Delay, Spasticity, And Dysarthria Syndrome
Bradykinesia, Lower limb spasticity, Hypotonia, Attention deficit hyperactivity disorder OMIM:618878
Spinocerebellar Ataxia 17
Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Rigidity, Chorea, Dysmetria, Depression, Bra... OMIM:607136
Hyperphenylalaninemia, Bh4-Deficient, A
Axial hypotonia, Small for gestational age, Ataxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Br... OMIM:261640
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia, Dysphagia, Abnormal nerve c... OMIM:619862
Childhood-Onset Nemaline Myopathy
Reduced vital capacity, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Fatigab... ORPHA:171439
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Apnea, Myoclonus OMIM:610992
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive
Ataxia, Parkinsonism, Chorea, Abnormal pyramidal sign, Slurred speech, Dysphagia, Dysmetria, Brad... OMIM:618317
Pontocerebellar Hypoplasia Type 4
Central apnea, Respiratory failure requiring assisted ventilation, Polyhydramnios, Hypertonia, My... ORPHA:166063
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory distress, Respiratory insufficiency due to muscle weakness, Hypotonia, Dysphagia, Let... OMIM:613561
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Rigidity, Tremor, Bradykinesia, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617836
Autosomal Dominant Striatal Neurodegeneration
Bradykinesia, Dysdiadochokinesis, Rigidity, Dysphagia ORPHA:228169
Benign Familial Neonatal Epilepsy
Axial hypotonia, Apnea, Focal EEG discharges with secondary generalization, Clonus, Increased the... ORPHA:1949
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Infantile axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gait, Bradykinesia, Ankle... ORPHA:521406
Parkinson Disease 6, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Rigidity, Depression, Bradykinesia, Dystonia OMIM:605909
Central Diabetes Insipidus
Anorexia, Dehydration, Depression, Weight loss, Lethargy, Polydipsia, Failure to thrive ORPHA:178029
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Tremor, Generalized hypotonia OMIM:619099
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Neuromuscular dysphagia,... ORPHA:227510
Leukodystrophy, Hypomyelinating, 4
Apnea, Head titubation, Spastic paraplegia, Babinski sign, Hypotonia, Choreoathetosis, Progressiv... OMIM:612233
Febrile Infection-Related Epilepsy Syndrome
EEG abnormality, Lethargy, Sinusitis, Cough ORPHA:163703
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Hypertonia, Pneumonia OMIM:254120
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Depression, Bradykinesia, Myoclonus, Dystonia, ... ORPHA:314632
Congenital Myopathy 14
Death in infancy, Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Hypoto... OMIM:618414
Mitochondrial Membrane Protein-Associated Neurodegeneration
Parkinsonism, Rigidity, Babinski sign, Hand tremor, Respiratory insufficiency, Bradykinesia, Dysp... ORPHA:289560
Spastic Paraplegia 78, Autosomal Recessive
Resting tremor, Ataxia, Parkinsonism, Aggressive behavior, Spastic paraplegia, Abnormal pyramidal... OMIM:617225
Parkinson Disease 11, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Parkinsonism with favorable response to dopaminergic medication, Ri... OMIM:607688
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Severe muscular hypotonia, Involuntary movements, Respiratory insufficiency... ORPHA:238329
Dihydropyrimidine Dehydrogenase Deficiency
Hyperactivity, Hypotonia, Tetraplegia, Hypertonia, Lethargy, Failure to thrive OMIM:274270
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Small fo... ORPHA:70589
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Depression, Bradykinesia, Atheto... OMIM:213600
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Hypotonia, Apneic episodes precipitated by illness, fatigue, s... OMIM:312170
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Tremor OMIM:610297
Developmental And Epileptic Encephalopathy 92
Ataxia, EEG abnormality, Myoclonus, Dystonia, Lethargy, Spasticity OMIM:617829
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Ataxia, Rigidity, Decreased nerve conduction velocity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
X-Linked Dystonia-Parkinsonism
Resting tremor, Progressive extrapyramidal muscular rigidity, Chorea, Torsion dystonia, Hand trem... ORPHA:53351
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Apnea, EEG with burst suppression, Hypotonia, Respiratory insufficiency, Hypertonia, Myoclonus OMIM:617290
Methylmalonic Acidemia With Homocystinuria, Type Cbld
Lethargy, Failure to thrive, Anorexia ORPHA:79283
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Leber Optic Atrophy And Dystonia
Dysphagia, Bradykinesia, Athetosis, Dystonia, Spasticity, Upper motor neuron dysfunction OMIM:500001
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Rigidity, Tremor, Bradykinesia, Dystonia OMIM:600116
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss
Incoordination, Ataxia, Episodic generalized hypotonia, Hypotonia, Dysphagia, Dysmetria, Bradykin... OMIM:601338
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Generalized dystonia, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Bradykinesia, Hypertoni... OMIM:618824
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea, Ataxia, Spastic tetraparesis, Chorea, Multifocal epileptiform discha... ORPHA:79097
Cyanide-Induced Parkinsonism-Dystonia
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Apathy ORPHA:306692
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis ORPHA:329284
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6
Ataxia, Chorea, Bradykinesia, Death in childhood, Lethargy OMIM:618683
Benign Familial Neonatal-Infantile Seizures
Apnea, Slurred speech, EEG with focal spikes, Episodic ataxia, Continuous spike and waves during ... ORPHA:140927
Gaucher Disease Type 2
Respiratory distress, Cough, Dysphagia, Dystonia, Spasticity, Abnormal pattern of respiration ORPHA:77260
Dravet Syndrome
Incoordination, Parkinsonism, Impulsivity, Rigidity, Multifocal epileptiform discharges, EEG with... ORPHA:33069
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:98933
Homocystinuria Without Methylmalonic Aciduria
Lethargy, Failure to thrive, Ataxia, Hypotonia ORPHA:622
Spastic Paraplegia 80, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Babinski sign, Limb ataxia, Bradykinesia, Upper limb s... OMIM:618418
Sudden Infant Death Syndrome
Apneic episodes in infancy OMIM:272120
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Hypotonia, Respiratory insufficiency, Dehydration, Choreoathetosis, Tetrapar... ORPHA:27
Juvenile Neuronal Ceroid Lipofuscinosis
Interictal EEG abnormality, Apnea, Episodic tachypnea, Parkinsonism, Poor motor coordination, Dep... ORPHA:79264
Generalized Epilepsy With Febrile Seizures-Plus
Incoordination, Ataxia, EEG with spike-wave complexes, Tremor, Hypotonia, Bradykinesia, Poor fine... ORPHA:36387
Leukoencephalopathy, Hereditary Diffuse, With Spheroids 1
Parkinsonism, Rigidity, Depression, Bradykinesia, Dysphagia, Spasticity, Apraxia OMIM:221820
Infantile Dystonia-Parkinsonism
Axial hypotonia, Cerebral palsy, Oculogyric crisis, Parkinsonism, Chorea, Abnormal pyramidal sign... ORPHA:238455
Spinocerebellar Ataxia Type 12
Postural tremor, Ataxia, Parkinsonism, Abnormal pyramidal sign, Bradykinesia, Poor fine motor coo... ORPHA:98762
Seizures, Benign Familial Infantile, 3
Normal interictal EEG, Apnea OMIM:607745
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Apnea, Periodic paralysis OMIM:614198
Oromandibular Dystonia
Respiratory distress, Torticollis, Generalized dystonia, Bruxism, Dysphagia, Depression, Blepharo... ORPHA:93958
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Decreased... OMIM:300580
Adult-Onset Nemaline Myopathy
Reduced vital capacity, Respiratory insufficiency due to muscle weakness, Neuromuscular dysphagia... ORPHA:171442
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Anorexia, Tachypnea, Hypotonia, Weight loss, Lethargy ORPHA:79242
Rett Syndrome
Limb apraxia, Infantile muscular hypotonia, Bradykinesia, EEG abnormality, Agitation, Dystonia, F... ORPHA:778
Pontocerebellar Hypoplasia, Type 16
Axial hypotonia, Apnea, Spastic tetraplegia, Abnormality of extrapyramidal motor function, Dyspha... OMIM:619527
Mitochondrial Complex I Deficiency, Nuclear Type 33
Axial hypotonia, Apnea, Small for gestational age, Bronchiectasis, Respiratory insufficiency, Asp... OMIM:618253
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Lower limb spasticity, Axial hypotonia, Sudden episodic apnea, Weakness due ... ORPHA:466722
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Slurred speech, Hypotonia, Ankle clonus, Lethargy, Spasticity, Fa... ORPHA:247525
Bardet-Biedl Syndrome 11
Obesity OMIM:615988
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Dystonia, Infantile axial hypotonia, Parkinsonism, Chorea, Babinski sign, Titubat... ORPHA:225147
Mitochondrial Complex I Deficiency, Nuclear Type 13
Death in infancy, Generalized dystonia, Apnea, Spasticity, Failure to thrive OMIM:618235
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Weight loss, Co... ORPHA:50251
Lethal Infantile Mitochondrial Myopathy
Lethargy, Neonatal respiratory distress, Generalized neonatal hypotonia ORPHA:254857
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B
Neonatal death, Apnea OMIM:615228
Seizures, Benign Familial Infantile, 1
Normal interictal EEG, Apnea OMIM:601764
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Ataxia, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity OMIM:610127
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, EEG with generalized epileptiform discharges, Se... OMIM:619827
Parkinson Disease 19A, Juvenile-Onset
Parkinsonism, Rigidity, Abnormal pyramidal sign, Bradykinesia, Pill-rolling tremor, Dystonia, Spa... OMIM:615528
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Parkinsonism, Rigidity, Babinski sign, Slurred speech, Bradykinesia, Apraxia, Spasticity, Action ... OMIM:300423
Thumb Stiffness-Brachydactyly-Intellectual Disability Syndrome
Obesity ORPHA:1078
Postencephalitic Parkinsonism
Resting tremor, Oculogyric crisis, Involuntary movements, Cough, Rigidity, Babinski sign, Abnorma... ORPHA:97349
Developmental And Epileptic Encephalopathy 61
Spasticity, Apnea, Generalized hypotonia OMIM:617933
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Axial hypotonia, Small for gestational age, Oculogyric crisis, Cerebral palsy, Tremor, Rigidity, ... ORPHA:70594
Mitochondrial Complex I Deficiency, Nuclear Type 9
Hypoventilation, Severe muscular hypotonia, Breathing dysregulation, Neonatal death, Lethargy OMIM:618232
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Dysphagia, Choreoathetosis, Hyperkinetic movements, ... OMIM:233910
Dysplasia Epiphysealis Hemimelica
Overgrowth OMIM:127800
Spinocerebellar Ataxia 10
Incoordination, Decreased nerve conduction velocity, Babinski sign, Abnormal pyramidal sign, Dysm... OMIM:603516
Mitochondrial Complex I Deficiency, Nuclear Type 10
Apnea, Central hypoventilation, Ataxia, Hypotonia, Dysmetria, Respiratory failure, Dysphagia OMIM:618233
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Developmental And Epileptic Encephalopathy 90
EEG with burst suppression, Babinski sign, Hypotonia, Hypsarrhythmia, Ankle clonus, Apneic episod... OMIM:301058
Beta-Ketothiolase Deficiency
Ataxia, Anorexia, Edema, Tachypnea, Hypotonia, Dehydration, Weight loss, Apathy, Agitation, Extra... ORPHA:134
Neurodegeneration With Brain Iron Accumulation 3
Dystonia, Ataxia, Writer's cramp, Parkinsonism, Tremor, Rigidity, Chorea, Babinski sign, Bradykin... OMIM:606159
Recurrent Respiratory Papillomatosis
Respiratory distress, Failure to thrive, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper... ORPHA:60032
Benign Samaritan Congenital Myopathy
Abnormal respiratory system physiology, Fasciculations, Generalized hypotonia, Lethargy, Frog-leg... ORPHA:324581
Gaba-Transaminase Deficiency
Lethargy, EEG with burst suppression, Hypotonia, Death in childhood OMIM:613163
Propionic Acidemia
Axial hypotonia, Apnea, Tachypnea, Dehydration, Dystonia, Lethargy, Failure to thrive, Limb hyper... OMIM:606054
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Axial hypotonia, Spastic paraplegia, Hypotonia, Spastic tetraplegia, Spasti... OMIM:617977
Multiple System Atrophy
Axial dystonia, Resting tremor, Postural tremor, Parkinsonism, Rigidity, Abnormal pyramidal sign,... ORPHA:102
Parkinson Disease 5, Autosomal Dominant, Susceptibility To
Bradykinesia, Parkinsonism with favorable response to dopaminergic medication, Rigidity OMIM:613643
Bardet-Biedl Syndrome 14
Obesity OMIM:615991
Spinocerebellar Ataxia Type 8
Ataxia, Rigidity, Dysphagia, Depression, Bradykinesia, Spastic dysarthria, Gait ataxia, Limb atax... ORPHA:98760
Spinocerebellar Ataxia 2
Postural tremor, Ataxia, Parkinsonism, Rigidity, Oculomotor apraxia, Babinski sign, Hypotonia, Dy... OMIM:183090
Combined Oxidative Phosphorylation Deficiency 57
Death in infancy, Apnea, Nonimmune hydrops fetalis, Central hypoventilation, Small for gestationa... OMIM:620167
Rett Syndrome
Apnea, Intermittent hyperventilation, Cachexia, Gait apraxia, Bruxism, Truncal ataxia, Gait ataxi... OMIM:312750
Carnitine Deficiency, Systemic Primary
Respiratory distress, Hypotonia, Dehydration, Generalized hypotonia, Lethargy, Failure to thrive OMIM:212140
Joubert Syndrome 33
Oculomotor apraxia, Apnea, Hypotonia, Ataxia OMIM:617767
Pulmonary Hypoplasia, Primary
Neonatal death OMIM:265430
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Apnea, Oculogyric crisis, Axial hypotonia, Tongue thru... OMIM:608643
Pontocerebellar Hypoplasia Type 2
Paroxysmal dystonia, Apnea, Infantile axial hypotonia, Oral-pharyngeal dysphagia, Babinski sign, ... ORPHA:2524
2-Methylbutyryl-Coa Dehydrogenase Deficiency
Lethargy, Apneic episodes in infancy, Hypotonia OMIM:610006
Benign Familial Infantile Epilepsy
Apnea, Hypertonia, Interictal epileptiform activity, Limb myoclonus, Normal interictal EEG ORPHA:306
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Axial hypotonia, Spastic tetraparesis, Respiratory insufficiency, Opisthotonus,... OMIM:605711
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory... OMIM:614299
Alternating Hemiplegia Of Childhood
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Tremor, Chorea, Abnormal pyrami... ORPHA:2131
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradykinesia, Myoclonus, Attenti... OMIM:619725
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Central apnea, Spastic paraplegia, Hypotonia, Dysmetria, Gait ataxia, Spastic gait OMIM:615031
Bardet-Biedl Syndrome 13
Obesity OMIM:615990
Autosomal Dominant Spastic Paraplegia Type 3
Lower limb spasticity, Rigidity, Babinski sign, Bradykinesia, Ankle clonus, Lower limb hypertonia... ORPHA:100984
Congenital Disorder Of Glycosylation, Type Ij
Apnea, Aggressive behavior, Tremor, Hypotonia, Respiratory insufficiency, Hypsarrhythmia, Hyperto... OMIM:608093
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Death in infancy, Axial hypotonia, Apnea, Clonus, Rigidity, EEG with burst suppression, Babinski ... OMIM:614498
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Fatiguable weakness of proxi... ORPHA:90117
Kcnq2-Related Epileptic Encephalopathy
Apnea, EEG with burst suppression, Poor gross motor coordination, Hypotonia, Hypsarrhythmia, Dyst... ORPHA:439218
Pyruvate Dehydrogenase Deficiency
Cerebral palsy, Ataxia, Tremor, Dyspnea, Tachypnea, Abnormal pyramidal sign, Hypotonia, Choreoath... ORPHA:765
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Paraparesis, ... OMIM:606693
2Q24 Microdeletion Syndrome
Central apnea, Neonatal hypotonia, Failure to thrive, Small for gestational age ORPHA:1617
Butyrylcholinesterase Deficiency
Apnea OMIM:617936
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress, Axial hypotonia, Cachexia, Hypotonia, Weight loss, Gait ataxia, Generalized... OMIM:612075
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Hypotonia, Choreoathetosis, Dystonia, Lethargy ORPHA:289916
Combined Oxidative Phosphorylation Deficiency 2
Small for gestational age, Edema, Neonatal death, Neonatal hypotonia, Lethargy OMIM:610498
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Slurred speech, Rigidity OMIM:609161
Severe Canavan Disease
Oral-pharyngeal dysphagia, Babinski sign, Hypotonia, Decerebrate rigidity, Lethargy, Spasticity ORPHA:314911
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Axial hypotonia, Apnea, Truncal titubation, Tremor, Dysmetria, Gait... OMIM:618056
Methylmalonic Acidemia With Homocystinuria
Lethargy, Failure to thrive, Hypotonia ORPHA:26
Huntington Disease
Rigidity, Chorea, Gait ataxia, Bradykinesia, Depression OMIM:143100
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... OMIM:619751
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, EEG ... ORPHA:282166
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Apnea, Hypotonia, Opisthotonus, Generalized hypotonia, Lethargy, Failure to thrive OMIM:210200
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia, Apnea, Respiratory insufficiency, Dysphagia OMIM:618198
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... ORPHA:454887
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Anorexia, Hypotonia, Respiratory failure, Lethargy OMIM:619386
Summitt Syndrome
Obesity OMIM:272350
Mitochondrial Complex Iv Deficiency, Nuclear Type 4
Failure to thrive, Axial hypotonia, Apnea, Generalized hypotonia OMIM:619048
Laryngotracheal Angioma
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough ORPHA:137935
Delayed Encephalopathy Due To Carbon Monoxide Poisoning
Bradykinesia, Rigidity ORPHA:306686
Perching Syndrome
Respiratory distress, Dysphagia OMIM:617055
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Axial hypotonia, Apnea, Opisthotonus OMIM:616896
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Death in infancy, Failure to thrive in infancy, Hypotonia, Death in childhood, Pulmonary arterial... OMIM:619064
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency
Respiratory distress, Hypotonia, Dehydration, Generalized hypotonia, Lethargy, Failure to thrive OMIM:251000
Gerstmann-Straussler Disease
Parkinsonism, Aggressive behavior, Rigidity, Tremor, Limb ataxia, Depression, Bradykinesia, Weigh... OMIM:137440
Nemaline Myopathy 2
Apnea, Polyhydramnios, Respiratory insufficiency due to muscle weakness, Dysphagia, Neonatal hypo... OMIM:256030
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Hypotonia, Dysmetria, Truncal ataxia, Myoclonus, Dystonia, Lethargy, Fai... OMIM:250620
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Axial hypotonia, Ataxia, Spastic tetraparesis, Tachypnea, Babinski sign, Respiratory failure, Gen... OMIM:615838
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Involuntary movements... ORPHA:98805
Intellectual Developmental Disorder, X-Linked 97
Obesity OMIM:300803
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Large for gestational age ORPHA:356996
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress, Ataxia, Paraplegia, Agitation, Infantile muscular hypotonia, Lethargy, Fail... ORPHA:927
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn... ORPHA:254875
Autosomal Recessive Progressive External Ophthalmoplegia
Ataxia, Cogwheel rigidity, Bradykinesia, Depression, Dysphagia, Parkinsonism with favorable respo... ORPHA:254886
Manganese Poisoning
Postural tremor, Aggressive behavior, Hypersexuality, Depression, Bradykinesia, Cogwheel rigidity... ORPHA:306682
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation
Central apnea, Gait ataxia, Generalized hypotonia, Dysmetria ORPHA:320385
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Ataxia, Impulsivity, Paraparesis, Oromotor apraxia, Hypotonia, Clumsiness,... OMIM:617854
Classic Pantothenate Kinase-Associated Neurodegeneration
Generalized dystonia, Cough, Spasticity, Opisthotonus, Weight loss, Attention deficit hyperactivi... ORPHA:216866
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Clonus, Decreased nerve conduction velocity, Spastic paraplegia, Abnormal pyramidal sign, Hypoton... OMIM:238970
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Severe muscular hypoton... ORPHA:596
Mitochondrial Complex I Deficiency, Nuclear Type 14
Apnea, Generalized hypotonia OMIM:618236
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Anorexia, Spastic hemiparesis, Edema, Tachypnea, Hypotonia, Dehydration, Weight lo... ORPHA:20
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Dystonia, Axial hypotonia, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyramida... OMIM:607483
Congenital Myopathy 11
Neonatal respiratory distress, Apneic episodes in infancy, Hypotonia, Polyhydramnios OMIM:619967
Hyperinsulinemic Hypoglycemia, Familial, 1
Large for gestational age OMIM:256450
Hernia, Anterior Diaphragmatic
Neonatal death OMIM:306950
Hypercalcemia, Infantile, 1
Hypotonia, Dehydration, Weight loss, Lethargy, Failure to thrive OMIM:143880
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Writer's cramp, Tremor, Babinski sign, Torsion dystonia, Hypot... OMIM:128100
Myasthenic Syndrome, Congenital, 20, Presynaptic
Hypoventilation, Apnea, Hypotonia, Stridor, Fatigable weakness, Dysphagia OMIM:617143
48,Xxyy Syndrome
Apnea, Ataxia, Tremor, Asthma, Hypotonia, Obesity, Depression, Attention deficit hyperactivity di... ORPHA:10
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death OMIM:226735
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Anorexia, Nonproductive cough, Dyspnea, W... ORPHA:1302
Developmental And Epileptic Encephalopathy 68
Respiratory distress, Exaggerated startle response, Clonus, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Methylmalonic Aciduria, Cblb Type
Respiratory distress, Hypotonia, Dehydration, Generalized hypotonia, Lethargy, Failure to thrive OMIM:251110
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Parkinsonism, Head titubation, Tremor, Rigidity, Hypotonia, Truncal ataxia, Gait ataxia, Bradykin... OMIM:618877
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Extrapyramidal muscular rigidity, Parkinsonism, Tremor, Rigidity, Abnormal pyrami... ORPHA:99750
Fructose-1,6-Bisphosphatase Deficiency
Apnea, Dyspnea, Hypotonia, Lethargy, Hyperventilation OMIM:229700
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress, Failure to thrive, Hypotonia, Generalized hypotonia OMIM:300934
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Axial hypotonia, Apnea, Ataxia, Impulsivity, Aggressive behavior, Tongue thrusting, Hypotonia, Op... OMIM:619580
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Dystonia, Parkinsonism, Respiratory insufficiency due to muscle weakness, Rigidity, Babinski sign... OMIM:258450
Hyperekplexia 3
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest OMIM:614618
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, EEG with burst suppression, Respiratory failure, Spasticity ORPHA:168486
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Respiratory failure requiring assisted ventilation, Death in infancy, Hypotonia, Respiratory insu... OMIM:620265
Developmental And Epileptic Encephalopathy 101
Axial hypotonia, Apnea, Hypotonia, Opisthotonus, Myoclonus OMIM:619814
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Dyspnea, Chorea, Choreoathetosis, Hyperkinetic move... ORPHA:98810
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Edema, Dyspnea, Tachypnea, Pulmonary edema OMIM:267450
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Edema of the dorsum of feet, Apnea, Edema of the dorsum of hands, R... ORPHA:521426
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Truncal ataxia, Dys... OMIM:109150
Progressive Supranuclear Palsy
Dystonia, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Blepharospasm, Abnormal synapt... ORPHA:683
Fragile X Tremor/Ataxia Syndrome
Resting tremor, Postural tremor, Parkinsonism, Action tremor, Dysmetria, Depression, Bradykinesia... OMIM:300623
Hypermanganesemia With Dystonia 2
Generalized dystonia, Dystonia, Axial hypotonia, Parkinsonism, Tremor, Babinski sign, Scissor gai... OMIM:617013
Combined Oxidative Phosphorylation Deficiency 47
Dehydration, Failure to thrive, Generalized hypotonia, Dysphagia OMIM:618958
Peroxisome Biogenesis Disorder 11A (Zellweger)
Failure to thrive, Apnea, Severe muscular hypotonia, Infantile muscular hypotonia OMIM:614883
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Axial hypotonia, Ataxia, Hypotonia, Respiratory failure, Appendicular hypot... OMIM:620166
Hyperglycinemia, Lactic Acidosis, And Seizures
Apnea, Hypotonia, Spastic tetraplegia, Respiratory insufficiency, Myoclonus, Generalized hypotoni... OMIM:614462
Spinocerebellar Ataxia Type 13
Torticollis, Limb ataxia, Titubation, Bradykinesia, Gait ataxia, Clumsiness, Myoclonus, Generaliz... ORPHA:98768
Auriculocondylar Syndrome 2A
Respiratory distress, Apnea, Hypotonia OMIM:614669
Infantile Neuroaxonal Dystrophy
Hyperactivity, Dystonia, Axial hypotonia, Ataxia, Impulsivity, Spastic tetraparesis, Abnormal pyr... ORPHA:35069
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress, Failure to thrive, Hypotonia ORPHA:91130
Nipah Virus Disease
Respiratory distress, Anorexia, Tremor, Myoclonus, Cough ORPHA:99825
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Impulsivity, Tremor, Neuromuscular dysphagia, Abnormal pyramidal si... ORPHA:240071
Combined Oxidative Phosphorylation Deficiency 30
Respiratory distress, Death in infancy, Failure to thrive, Hypotonia OMIM:616974
Methylmalonic Aciduria, Cbla Type
Respiratory distress, Tremor, Hypotonia, Dehydration, Generalized hypotonia, Lethargy, Failure to... OMIM:251100
Cyclic Vomiting Syndrome
Ataxia, Anorexia, Hypotonia, Attention deficit hyperactivity disorder, Generalized hypotonia, Let... OMIM:500007
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8
Hemiparesis, Lethargy, EEG abnormality OMIM:617900
Joubert Syndrome 30
Tachypnea, Apnea, Hypotonia OMIM:617622
Autosomal Dominant Dopa-Responsive Dystonia
Torticollis, Generalized dystonia, Postural tremor, Ataxia, Parkinsonism, Rigidity, Babinski sign... ORPHA:98808
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Aggressive behavior, Tremor, Rigidity, Bradykinesia, Spastic paraparesis OMIM:300894
Immunodeficiency 95
Respiratory distress, Respiratory failure, Recurrent viral pneumonia OMIM:619773
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Tachypnea, Hypotonia, Pulmonary arterial hypertension, Abnormal posturing, Failure to thrive, Let... OMIM:614857
Dihydrolipoamide Dehydrogenase Deficiency
Dystonia, Ataxia, Hypotonia, Death in childhood, Lethargy OMIM:246900
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills
Dystonia, Apnea, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation OMIM:617903
Myotonia Fluctuans
Apnea, Stridor, Spasticity of facial muscles, Choking episodes, Neonatal hypotonia ORPHA:99734
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... OMIM:265120
Hyperinsulinemic Hypoglycemia, Familial, 2
Large for gestational age OMIM:601820
Parkinson Disease 7, Autosomal Recessive Early-Onset
Resting tremor, Postural tremor, Rigidity, Leg dystonia, Bradykinesia, Blepharospasm, Parkinsonis... OMIM:606324
Hyperekplexia 1
Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls OMIM:149400
Combined Malonic And Methylmalonic Acidemia
Failure to thrive, Axial hypotonia, Dehydration, Dystonia ORPHA:289504
X-Linked Parkinsonism-Spasticity Syndrome
Resting tremor, Babinski sign, Scissor gait, Cogwheel rigidity, Bradykinesia, Ankle clonus, Spast... ORPHA:363654
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Severe muscular hypotonia, Polyhydramnios, Respiratory failure, Stillbirth, Ton... OMIM:614922
Inflammatory Skin And Bowel Disease, Neonatal, 2
Failure to thrive, Recurrent pneumonia, Polyhydramnios, Dehydration OMIM:616069
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress, Restlessness, Interictal EEG abnormality, Edema of the dorsum of feet, Edem... ORPHA:544503
Sudden Infant Death With Dysgenesis Of The Testes Syndrome
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Tongue fasc... OMIM:608800
Parkinson Disease 17
Resting tremor, Parkinsonism, Rigidity, Tremor, Bradykinesia OMIM:614203
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments
Parkinsonism, Bradykinesia, Inappropriate behavior, Apathy, Inertia ORPHA:412066
3-Methylglutaconic Aciduria, Type Viib
Respiratory distress, Ataxia, Polyhydramnios, Tremor, Recurrent pneumonia, Hypotonia, Dehydration... OMIM:616271
Body Mass Index Quantitative Trait Locus 20
Obesity, Tall stature OMIM:618406
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Generalized hypotonia, Oculomotor apraxia, ... OMIM:611560
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Dystonia, Apnea, Clonus, Tremor, Hypotonia, Hypopnea, Respiratory failure, Hype... OMIM:617248
Hereditary Late-Onset Parkinson Disease
Resting tremor, Dystonia, Parkinsonism, Impulsivity, Rigidity, Depression, Bradykinesia, Weight l... ORPHA:411602
Diarrhea 4, Malabsorptive, Congenital
Failure to thrive, Dehydration OMIM:610370
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory failure requiring assisted ventilation, Ataxia, Dyspnea, Vocal ... OMIM:211530
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Pericardial effusion, Dyspnea, Chronic pulmonary obstruction, Pne... ORPHA:411703
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Tachypnea, Polyphagia, Decreased body weight OMIM:620085
Diabetes Mellitus, Transient Neonatal, 1
Severe failure to thrive, Dehydration OMIM:601410
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Ataxia, Cachexia, Hypotonia, Fatigable weakness, Fatigable weakness of neck muscles, Lethargy, Ex... ORPHA:42
Transient Neonatal Diabetes Mellitus
Failure to thrive, Small for gestational age, Hypotonia, Dehydration ORPHA:99886
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Apnea, Edema, Rigidity, Babinski sign, Abnormal pyramidal sign, Hyp... OMIM:617527
Hereditary Central Diabetes Insipidus
Lethargy, Polydipsia, Weight loss ORPHA:30925
Immunodeficiency 83, Susceptibility To Viral Infections
Hemiparesis, Lethargy, EEG abnormality OMIM:613002
Myopathy And Diabetes Mellitus
Respiratory distress, Babinski sign, Progressive cerebellar ataxia, Neonatal hypotonia, Frequent ... ORPHA:2596
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... OMIM:610921
Glutamine Deficiency, Congenital
Neonatal respiratory distress, Apnea, Hypotonia, Generalized hypotonia, Neonatal death OMIM:610015
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy, Hypotonia, Limb dystonia, Lethargy, Inspiratory stridor, ... OMIM:604377
Hypophosphatasia, Infantile
Death in infancy, Apnea, Polyhydramnios, Anorexia, Hypotonia, Stillbirth, Failure to thrive OMIM:241500
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Cln3 Disease
Extrapyramidal muscular rigidity, Ataxia, Aggressive behavior, Depression, Bradykinesia, Dysphagia ORPHA:228346
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress, Small for gestational age, Hypotonia, Generalized hypotonia, Oligohydramnios OMIM:616733
Neuroferritinopathy
Resting tremor, Dystonia, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski s... ORPHA:157846
Fatal Familial Insomnia
Apnea, Ataxia, Weight loss, Myoclonus, Dysphagia OMIM:600072
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Axial hypotonia, Apnea, Severe muscular hypotonia, Polyhydramnios, Hypotonia, Myoclonus, Spasticity OMIM:612949
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Respiratory distress, Diaphragmatic paralysis, Paradoxical respiration, Hypotonia, Frequent falls... OMIM:620011
Combined Malonic And Methylmalonic Aciduria
Failure to thrive, Dehydration OMIM:614265
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Severe muscular hypotonia, Recurren... ORPHA:314655
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Dysphagia, Weight ... ORPHA:142
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Resting tremor, Postural tremor, Parkinsonism, Rigidity, Clumsiness, Bradykinesia, Dystonia OMIM:619911
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Rigidity, Abnormal pyramidal sign, Gait ataxia, Bradykines... ORPHA:391411
Gaucher Disease, Type Ii
Death in infancy, Apnea, Cough, Rigidity, Stridor, Hypertonia, Dysphagia, Oculomotor apraxia, Spa... OMIM:230900
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Bipolar affective disorder, Ataxia, Edema, Tremor, Rigidity, Respiratory insuffic... ORPHA:254892
Cerebrooculofacioskeletal Syndrome 1
Axial hypotonia, Small for gestational age, Recurrent pneumonia, Hypotonia, Dehydration, Death in... OMIM:214150
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Bardet-Biedl Syndrome 18
Obesity OMIM:615995
Narcolepsy Type 1
Obesity ORPHA:2073
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Axial hypotonia, Apnea, Clonus, Respiratory failure, Hypertonia, Dy... OMIM:617301
High Altitude Pulmonary Edema
Orthopnea, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough, Pulmonary edema ORPHA:330012
Hyperinsulinism Due To Hnf1A Deficiency
Small for gestational age, Large for gestational age, Agitation, Neonatal hypotonia, Lethargy, Po... ORPHA:324575
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea, Infantile muscular hypotonia, Dysphagia ORPHA:163961
Joubert Syndrome 9
Oculomotor apraxia, Apnea, Episodic tachypnea OMIM:612285
Parkinson Disease, Late-Onset
Resting tremor, Dystonia, Parkinsonism, Tremor, Rigidity, Depression, Bradykinesia, Dysphagia OMIM:168600
Isobutyryl-Coa Dehydrogenase Deficiency
Hypotonia, Dehydration ORPHA:79159
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Truncal obesity, Obesity, Large for gestational age OMIM:240900
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Autism, Susceptibility To, X-Linked 6
Obesity OMIM:300872
Developmental And Epileptic Encephalopathy 41
Axial hypotonia, Babinski sign, Hypsarrhythmia, EEG abnormality, Tetraparesis, Generalized hypoto... OMIM:617105
Bardet-Biedl Syndrome 16
Respiratory distress, Obesity OMIM:615993
Hypothyroidism, Congenital, Nongoitrous, 7
Lethargy OMIM:618573
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Ataxia, Hypotonia, ... OMIM:618426
Pyruvate Carboxylase Deficiency
Failure to thrive, Dystonia, Ataxia, Anorexia, Tremor, Tachypnea, Abnormal pyramidal sign, Hypoto... ORPHA:3008
Isolated Atp Synthase Deficiency
Respiratory distress, Ataxia, Spastic paraplegia, Hypotonia, Tetraplegia, Dystonia, Lethargy ORPHA:254913
Intellectual Developmental Disorder, X-Linked 110
Bradykinesia OMIM:301095
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome
Tremor, Lethargy, Agitation, Increased body weight ORPHA:276608
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Dyspnea, Asthma, Wheezing, Bronchiectasis, Hypotonia, Chronic cough, Hemiparesis, Cough... OMIM:620233
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Obesity OMIM:619058
Gaucher Disease, Perinatal Lethal
Respiratory distress, Decreased body weight, Apnea, Nonimmune hydrops fetalis, Polyhydramnios, Op... OMIM:608013
Parkinson Disease 14, Autosomal Recessive
Axial dystonia, Resting tremor, Eyelid apraxia, Parkinsonism, Upper limb postural tremor, Aggress... OMIM:612953
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lethargy, Paralysis OMIM:613710
Developmental And Epileptic Encephalopathy 109
Hyperactivity, Axial hypotonia, Dyspnea, Hypotonia, Gait ataxia, Myoclonus, Spasticity, Failure t... OMIM:620145
Cortisone Reductase Deficiency 2
Obesity OMIM:614662
Prolactin Deficiency With Obesity And Enlarged Testes
Obesity OMIM:264120
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Apnea, Hypotonia OMIM:619797
D-2-Hydroxyglutaric Aciduria 1
Apnea, Hypotonia, Inspiratory stridor, Hypsarrhythmia OMIM:600721
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress, Hypotonia, Generalized hypotonia OMIM:614741
Glycine Encephalopathy
Breathing dysregulation, EEG with burst suppression, Respiratory acidosis, Hypotonia, EEG abnorma... ORPHA:407
Congenital Myasthenic Syndrome
EEG with polyspike wave complexes, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent ep... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
EEG with polyspike wave complexes, Sudden episodic apnea, Ataxia, Polyhydramnios, Intermittent ep... ORPHA:98914
Mohr-Tranebjaerg Syndrome
Tremor, Spasticity, Dysphagia, Dystonia, Abnormal posturing OMIM:304700
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Hypotonia, Dehydration, Death in adolescence, Myoclonus, Death in childhood, Failure to t... OMIM:560000
Wieacker-Wolff Syndrome
Neonatal respiratory distress, Apnea, Hypotonia, Generalized hypotonia, Dystonia, Oculomotor apra... OMIM:314580
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Typhoid
Ataxia, Epistaxis, Tremor, Hypertonia, Cough, Lethargy ORPHA:99745
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... ORPHA:2257
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Tongue edema, Palpebral edema, Pharyngeal edema, Facial edema, Laryngeal ed... ORPHA:100057
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Developmental And Epileptic Encephalopathy 1
Axial hypotonia, Spastic tetraparesis, Dyspnea, EEG with burst suppression, Abnormal pyramidal si... OMIM:308350
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress, Severe muscular hypotonia,... OMIM:615042
Unilateral Polymicrogyria
Axial hypotonia, Apnea, Epistaxis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor ... ORPHA:268943
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Bradykinesia, Babinski sign OMIM:619063
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Acute Lung Injury
Respiratory distress, Pneumonia, Edema, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addic... ORPHA:178320
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Failure to thrive, Hypotonia, Death in childhood OMIM:615597
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Crackles, Asthma, Tachypne... OMIM:610978
Young-Onset Parkinson Disease
Restless legs, Impulsivity, Tremor, Rigidity, Depression, Bradykinesia, Agitation, Apathy, Dyston... ORPHA:2828
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Tremor, Rigidity, Neuromuscular dysphagia, Bradykinesia, Spastic dysarthria, Blepharospasm, Oculo... ORPHA:240094
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Dysphagia, Bradykinesia, Myoclonu... ORPHA:171695
Myotonic Dystrophy 1
Respiratory distress, Polyhydramnios, Hypotonia, Generalized hypotonia, Dysphagia, Obsessive-comp... OMIM:160900
Classic Galactosemia
Speech apraxia, Incoordination, Postural tremor, Ataxia, Depression, Clumsiness, Attention defici... ORPHA:79239
Succinic Acidemia
Respiratory distress OMIM:600335
Developmental And Epileptic Encephalopathy 99
Central apnea, Multifocal epileptiform discharges, Eyelid myoclonus OMIM:619606
Mitochondrial Trifunctional Protein Deficiency 1
Small for gestational age, Hydrops fetalis, Hypotonia, Respiratory insufficiency, Respiratory fai... OMIM:609015
Harlequin Ichthyosis
Self-injurious behavior, Respiratory insufficiency, Dehydration ORPHA:457
Ankylosing Vertebral Hyperostosis With Tylosis
Obesity ORPHA:2206
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Primary Progressive Freezing Gait
Restless legs, Postural tremor, Clonus, Rigidity, Babinski sign, Bradykinesia, Dysphagia, Frequen... ORPHA:75567
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis
Death in infancy, Dehydration OMIM:251850
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Respiratory failure requiring assisted ventilation, Generalized hypotonia, ... ORPHA:254864
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Dysphagia, Depression, Bradykinesia, Myoclonus, Dystonia OMIM:168601
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Tremor, Hypotonia, EEG abnormality, Generalized hypotonia, Failure ... OMIM:608799
Neurodegeneration With Brain Iron Accumulation 2B
Hyperactivity, Dystonia, Impulsivity, Chorea, Babinski sign, Dysmetria, Gait ataxia, Bradykinesia... OMIM:610217
Obesity And Hypopigmentation
Overgrowth, Obesity OMIM:620195
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Hypotonia, Oculomotor apraxia, Neonatal breathing dysr... OMIM:608629
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Hydrops fetalis, Large for gestational age ORPHA:45452
Severe Acute Respiratory Syndrome
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... ORPHA:140896
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Dystonia, Tremor, Rigidity, Progressive extrapyramidal movement disorder, Focal d... ORPHA:199351
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, EEG with focal sharp waves, Self-b... ORPHA:522077
Bardet-Biedl Syndrome 10
Obesity OMIM:615987
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Hydrops fetalis, Chylopericardium, Cough, Pu... ORPHA:2414
Lethal Recessive Chondrodysplasia
Respiratory distress, Polyhydramnios, Edema ORPHA:1423
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypotonia, Hypertonia, Hyperkinetic movements, Lethargy, Failure to thrive OMIM:236270
Microlissencephaly-Micromelia Syndrome
Respiratory distress, Palpebral edema, Polyhydramnios, Hypotonia, EEG abnormality, Hypertonia, Fa... ORPHA:50810
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress, Failure to thrive, Hypotonia, Oligohydramnios ORPHA:261304
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Death in infancy, Tachypnea, Hypotonia, Respiratory arrest, Lethargy OMIM:201475
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Rigidity, Tremor, Bradykinesia, Poor fine motor coordination, Abnormality... OMIM:613280
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Decreased nerve conduction velocity, Tachypnea, Diaphragmatic paralysi... OMIM:604320
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Failure to thrive, Lymphocytic interstitial pneumonia OMIM:245590
Tetanus
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Dysphagia, Spasticit... ORPHA:3299
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Lower limb spasticity, Apnea, Ataxia, Upper motor neuron dysfunction, Hemiparesis, Spastic parapa... ORPHA:395
Necrotizing Enterocolitis
Small for gestational age, Apnea, Edema, Lethargy, Ascites ORPHA:391673
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance OMIM:619466
Autosomal Agammaglobulinemia
Sinusitis, Bronchiectasis, Dehydration, Cough, Failure to thrive ORPHA:33110
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Axial hypotonia, Ataxia, Aggressive behavior, Chorea, Spastic tetraplegia, ... OMIM:618321
Coronary Artery Disease, Autosomal Dominant, 1
Obesity OMIM:608320
Mitochondrial Complex I Deficiency, Nuclear Type 2
Apnea, Hypercapnia, Hypotonia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infanc... OMIM:618222
Brain-Lung-Thyroid Syndrome
Respiratory distress, Chorea, Abnormal drinking behavior, Choreoathetosis, Compulsive behaviors, ... ORPHA:209905
Neurological Conditions Associated With Aminoacylase 1 Deficiency
Apnea, Hypotonia ORPHA:137754
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea, Lethargy ORPHA:3282
Holocarboxylase Synthetase Deficiency
Tachypnea, Hypotonia, Hypertonia, Generalized hypotonia, Lethargy, Hyperventilation OMIM:253270
Bilateral Perisylvian Polymicrogyria
EEG with polyspike wave complexes, Lower limb spasticity, EEG with parietal focal spikes, EEG wit... ORPHA:98889
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Small for gestational age, Pneumonia, Episodic tachypnea, Pericardial effus... ORPHA:26793
Joubert Syndrome
Apnea, Episodic tachypnea, Ataxia, Tremor, Hypotonia, Oculomotor apraxia, Abnormal pattern of res... ORPHA:475
Pontocerebellar Hypoplasia, Type 7
Apnea, Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Hypertonia, Tongue f... OMIM:614969
Congenital Disorder Of Glycosylation, Type Ig
Respiratory distress, Small for gestational age, Edema, Polyhydramnios, Recurrent pneumonia, Hypo... OMIM:607143
Hyperinsulinism Due To Ucp2 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276556
Alpha-Methylacetoacetic Aciduria
Dehydration OMIM:203750
Waisman Syndrome
Resting tremor, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Parkinsonism with favora... OMIM:311510
Generalized Pseudohypoaldosteronism Type 1
Failure to thrive in infancy, Wheezing, Dehydration, Weight loss, Cough ORPHA:171876
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Amyotrophic Lateral Sclerosis
Paralysis, Fatigable weakness of bulbar muscles, Dyspnea, Xerostomia, Abnormal respiratory system... ORPHA:803
Leukoencephalopathy With Vanishing White Matter 1
Lethargy, Spasticity, Hypotonia, Generalized hypotonia OMIM:603896
Mitochondrial Dna-Associated Leigh Syndrome
Dystonia, Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Gait ataxia, Hypertonia,... ORPHA:255210
Neutropenia, Lethal Congenital, With Eosinophilia
Neonatal death OMIM:257100
Reticular Dysgenesis
Failure to thrive, Dehydration, Weight loss ORPHA:33355
Cholera
Miscarriage, Tachypnea, Dehydration, Aspiration pneumonia, Lethargy, Hyperventilation ORPHA:173
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO OMIM:616414
Biotinidase Deficiency
Apnea, Ataxia, Tachypnea, Hypotonia, Lethargy OMIM:253260
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Axial hypotonia, Apnea, Small for gestational age, Ataxia, Aggressive beha... OMIM:617799
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276575
Evans Syndrome
Dyspnea, Epistaxis, Lethargy ORPHA:1959
Lactase Deficiency, Congenital
Dehydration OMIM:223000
Fragile X-Associated Tremor/Ataxia Syndrome
Ataxia, Parkinsonism, Rigidity, Dysmetria, Depression, Bradykinesia, Gait ataxia, Compulsive beha... ORPHA:93256
Thyroid Lymphoma
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia ORPHA:97285
Pseudo-Torch Syndrome 2
Acute respiratory distress syndrome, Respiratory insufficiency, Generalized hypotonia, Lethargy, ... OMIM:617397
Scrub Typhus
Tremor, Dyspnea, Restrictive ventilatory defect, Cough, Lethargy ORPHA:83317
Choreoacanthocytosis
Chorea, Hypertonia, Compulsive behaviors, Limb dystonia, Laryngeal dystonia, Decreased amplitude ... ORPHA:2388
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Tremor,... OMIM:615512
Mogs-Cdg
Respiratory distress, Hypoventilation, Absent brainstem auditory responses, Dystonia, Apnea, Pulm... ORPHA:79330
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Lethargy, Agitation, Polyphagia, Large for gestational age ORPHA:276580
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness, Fasciculations, Oligohydr... ORPHA:1143
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Cardiomyopathy, Dilated, 2H
Neonatal death, Tachypnea, Cardiorespiratory arrest OMIM:620203
Parkinson Disease 8, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Parkinsonism with favorable response to dop... OMIM:607060
Severe X-Linked Intellectual Disability, Gustavson Type
Severe muscular hypotonia, Small for gestational age, Hypertonia, Apneic episodes in infancy, Myo... ORPHA:3078
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Hyperactivity, Dystonia, Ataxia, Parkinsonism, Tremor, Rigidity, Babinski sign, A... OMIM:234200
Stt3B-Cdg
Respiratory distress, Failure to thrive, Generalized hypotonia ORPHA:370924
Pyruvate Dehydrogenase E3 Deficiency
Ataxia, Generalized hypotonia, Lethargy, Spasticity, Failure to thrive ORPHA:2394
Mercury Poisoning
Respiratory distress, Anorexia, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, D... ORPHA:330021
Isovaleric Acidemia
Lethargy, Dehydration OMIM:243500
Parkinson Disease 18, Autosomal Dominant, Susceptibility To
Bradykinesia, Resting tremor, Rigidity, Parkinsonism OMIM:614251
Parkinson Disease 21
Bradykinesia, Parkinsonism, Rigidity, Tremor OMIM:616361
Joubert Syndrome With Renal Defect
Apnea, Ataxia, Tremor, Hypotonia, Oculomotor apraxia, Abnormal pattern of respiration ORPHA:220497
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Parkinsonism, Rigidity, Slurred speech, Hand tremor, Depression, Bradykinesia, Ga... OMIM:157640
Riboflavin Deficiency
Lethargy, Hypotonia OMIM:615026
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Polyhydramnios, Hypotonia, Generalized hypotonia, Neonata... OMIM:300219
Hermansky-Pudlak Syndrome 10
Axial hypotonia, Apnea, EEG abnormality, Generalized hypotonia, Dystonia OMIM:617050
Combined Oxidative Phosphorylation Deficiency 12
Axial hypotonia, Spastic tetraparesis, Babinski sign, Hypotonia, Bradykinesia, Dystonia, Neonatal... OMIM:614924
Orofaciodigital Syndrome Xvi
Oculomotor apraxia, Apnea, Hypotonia, Ataxia OMIM:617563
Malaria
Respiratory distress ORPHA:673
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Parkinsonism, Involuntary movements, Rigidity, Tremor, Dysphagia, Bradykinesia, D... OMIM:615530
Dihydropyrimidinase Deficiency
Lethargy, Abnormal pyramidal sign, Extrapyramidal dyskinesia OMIM:222748
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Hypotonia, Respiratory insufficiency, Res... OMIM:608836
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Hypotonia, Tetraplegia, Opisthotonus, Hypertonia, Pulmonary arterial hypert... OMIM:619272
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Apnea, Infantile muscular hypotonia ORPHA:1129
Methylmalonyl-Coa Epimerase Deficiency
Spasticity, Failure to thrive, Dehydration OMIM:251120
Peroxisome Biogenesis Disorder 2A (Zellweger)
Palpebral edema, Apnea, Hypotonia, Generalized hypotonia, Death in childhood, Failure to thrive OMIM:214110
Familial Cold Urticaria
Polydipsia, Dehydration ORPHA:47045
Biotinidase Deficiency
Respiratory distress, Apnea, Ataxia, Hypotonia, Spastic paraparesis, Lethargy, Hyperventilation ORPHA:79241
Glutaric Acidemia Type 3
Lethargy, Failure to thrive, Impulsivity ORPHA:35706
Maple Syrup Urine Disease
Ataxia, Hypotonia, Hypertonia, Generalized hypotonia, Lethargy, Cerebral edema OMIM:248600
Susac Syndrome
Gait ataxia, Apathy, Generalized hypotonia, Lethargy, Upper motor neuron dysfunction ORPHA:838
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Hypotonia, Respiratory insu... ORPHA:98915
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Episodic Ataxia Type 1
Respiratory distress, Poor coordination, Clumsiness, Choreoathetosis, Hypertonia ORPHA:37612
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Respiratory arrest, Lethargy OMIM:600649
Idiopathic Congenital Hypothyroidism
Facial edema, Lethargy, Hypotonia ORPHA:95717
Japanese Encephalitis
Respiratory distress, Decreased motor nerve conduction velocity, Anorexia, Tremor, Opisthotonus, ... ORPHA:79139
Cystinosis
Abnormal pyramidal sign, Dehydration, Polydipsia, Failure to thrive, Abnormal repetitive mannerisms ORPHA:213
Hernández-Aguirre Negrete Syndrome
Obesity ORPHA:2139
Joubert Syndrome With Ocular Defect
Apnea, Ataxia, Tremor, Hypotonia, Oculomotor apraxia, Abnormal pattern of respiration ORPHA:220493
Arthrogryposis, Renal Dysfunction, And Cholestasis 1
Death in infancy, Small for gestational age, Hypotonia, Dehydration, Generalized hypotonia, Failu... OMIM:208085
Obesity-Hypoventilation Syndrome
Obesity OMIM:257500
Microduplication Xp11.22P11.23 Syndrome
Obesity ORPHA:217377
Adiposis Dolorosa
Obesity OMIM:103200
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Severe muscular hypotonia, Polyhydramnios, Respiratory insufficiency due to muscle... OMIM:618291
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea... ORPHA:1303
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Neonatal hypotonia, Cough ORPHA:86812
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Large for gestational age, Apnea, Infantile muscular hypotonia ORPHA:79644
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress, Abnormal muscle tone, Dysphagia ORPHA:89844
Kufor-Rakeb Syndrome
Eyelid apraxia, Oculogyric crisis, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign... ORPHA:306674
Caribbean Parkinsonism
Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, Bradykinesia, Progressive... ORPHA:97355
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Respiratory distress, Failure to thrive, Severe muscular hypotonia, Nonimmune hydrops fetalis, Po... ORPHA:367
Coach Syndrome 2
Oculomotor apraxia, Apneic episodes in infancy OMIM:619111
Thymic Carcinoma
Palpebral edema, Edema, Dyspnea, Diaphragmatic paralysis, Weight loss, Fatigable weakness, Cough ORPHA:99868
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Speech apraxia, Clonus, Tachypnea, Spastic paraplegia, Abnormal pyramidal sign, Poor coordination... ORPHA:415
Chitayat Syndrome
Respiratory distress, Polyhydramnios, Generalized hypotonia, Tracheomalacia OMIM:617180
Infantile Krabbe Disease
Respiratory distress, Lower limb spasticity, Prolonged brainstem auditory evoked potentials, Cach... ORPHA:206436
Thiamine-Responsive Megaloblastic Anemia Syndrome
Lethargy, Anorexia ORPHA:49827
Crigler-Najjar Syndrome
Lethargy, Hypotonia ORPHA:205
Joubert Syndrome With Oculorenal Defect
Tachypnea, Apnea, Hypotonia, Ataxia ORPHA:2318
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Respiratory insufficiency, Tongue fasciculations, Generalized hypotonia, In... ORPHA:1145
Congenital Tracheomalacia
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... ORPHA:95430
Obesity Due To Melanocortin 4 Receptor Deficiency
Childhood-onset truncal obesity, Obesity ORPHA:71529
Mitochondrial Complex I Deficiency, Nuclear Type 1
Death in infancy, Apnea, Ataxia, Babinski sign, Hypotonia, Respiratory insufficiency, Respiratory... OMIM:252010
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Hypotonia, Trunca... OMIM:220110
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Respiratory distress, Ataxia, Pulmonary embolism, Hypotonia, Hydrops fetalis, Dehydration, Poor f... ORPHA:79282
Lymphatic Malformation 7
Respiratory distress, Nonimmune hydrops fetalis, Edema, Lymphedema, Facial edema, Pericardial eff... OMIM:617300
Neurodegeneration And Seizures Due To Copper Transport Defect
Respiratory distress, Axial hypotonia, Pneumothorax, Lethargy, Limb hypertonia OMIM:620306
Mitochondrial Trifunctional Protein Deficiency
Failure to thrive in infancy, Babinski sign, Hypotonia, Respiratory insufficiency, Respiratory fa... ORPHA:746
Intestinal Botulism
Death in infancy, Respiratory insufficiency due to muscle weakness, Dyspnea, Xerostomia, Hypotoni... ORPHA:178481
Choanal Atresia
Respiratory distress, Upper airway obstruction, Choking episodes, Tracheomalacia, Chronic sinusit... ORPHA:137914
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... ORPHA:454836
Congenital Hyperinsulinism Due To Hnf4A Deficiency
Large for gestational age, Tremor, Increased body weight, Agitation, Neonatal hypotonia, Lethargy ORPHA:263455
Glass Syndrome
Restlessness, Hyperactivity, Apnea, Facial hypotonia, Aggressive behavior, Hypotonia, Frequent te... OMIM:612313
Citrullinemia Type Ii
Restlessness, Hyperactivity, Aggressive behavior, Abnormal eating behavior, Tremor, Lethargy, Man... ORPHA:247585
Meningococcal Meningitis
Lethargy, Neonatal respiratory distress, Anorexia ORPHA:33475
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders
Overweight OMIM:620065
Idiopathic Intracranial Hypertension
Lethargy, Obesity, Depression ORPHA:238624
Central Neurocytoma
Lethargy, Babinski sign, Ataxia, Depression ORPHA:73256
Hypoadrenocorticism, Familial
Apnea OMIM:240200
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia
Lethargy, Failure to thrive, Anorexia OMIM:611590
Tenorio Syndrome
Cerebral palsy, Apnea, Recurrent pneumonia, Hypotonia, Clumsiness OMIM:616260
Dengue Fever
Lethargy, Ascites, Epistaxis, Cardiorespiratory arrest ORPHA:99828
Renal Hypoplasia, Bilateral
Neonatal respiratory distress, Small for gestational age, Edema, Lethargy, Failure to thrive, Oli... ORPHA:97362
Hereditary Angioedema Type 1
Respiratory distress, Tongue edema, Pharyngeal edema, Intestinal edema, Edema of the dorsum of ha... ORPHA:100050
Ebola Hemorrhagic Fever
Dyspnea, Dysphagia, Lethargy, Cough ORPHA:319218
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress, Hypotonia, Stridor, Neonatal hypotonia, Failure to thrive OMIM:615595
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Hypotonia, Stridor, Generaliz... OMIM:614653
Insulinoma
Tremor, Lethargy, Polyphagia, Increased body weight ORPHA:97279
Familial Nasal Acilia
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Polycystic Ovary Syndrome 1
Obesity OMIM:184700
Joubert Syndrome 1
Central apnea, Hyperactivity, Hemifacial spasm, Ataxia, Episodic tachypnea, Aggressive behavior, ... OMIM:213300
Pseudo-Torch Syndrome 3
Death in infancy, Apnea, Respiratory insufficiency OMIM:618886
Moebius Syndrome
Respiratory distress, Poor coordination, Dysphagia, Clumsiness, Dysdiadochokinesis, Infantile mus... OMIM:157900
Hypothyroidism, Central, With Testicular Enlargement
Overweight OMIM:300888
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Generalized hypotonia, Hypotonia, Cardiorespiratory arrest OMIM:212138
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss, Edema, Dehydration ORPHA:103910
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Ataxia, Tremor, Hypotonia, Generalized hypotonia, Failure to thrive ORPHA:2754
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Bardet-Biedl Syndrome 22
Obesity, Large for gestational age OMIM:617119
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of
Lethargy, Cerebral edema, Hypotonia, Generalized hypotonia OMIM:201450
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Respiratory distress, Polyhydramnios, EEG with burst suppression, Generalized hypotonia, Failure ... ORPHA:329178
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
EEG abnormality, Apnea OMIM:261680
Hypogonadotropic Hypogonadism 27 Without Anosmia
Obesity OMIM:619755
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Obesity ORPHA:88643
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Central apnea, Failure to thrive, Small for gestational age, Bulimia, Hypotonia, Pedal edema, Obe... ORPHA:98793
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Neonatal hypotonia, Tachypnea, Hypotonia OMIM:616501
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)
Respiratory distress, Death in infancy, Failure to thrive, Polyhydramnios, Lethargy, Ascites OMIM:617156
Alobar Holoprosencephaly
Central apnea, Limb dystonia, Abnormal central motor function, Infantile axial hypotonia, Oromoto... ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly
Central apnea, Limb dystonia, Abnormal central motor function, Infantile axial hypotonia, Oromoto... ORPHA:93926
Lobar Holoprosencephaly
Central apnea, Limb dystonia, Abnormal central motor function, Infantile axial hypotonia, Oromoto... ORPHA:93924
Semilobar Holoprosencephaly
Central apnea, Limb dystonia, Abnormal central motor function, Infantile axial hypotonia, Oromoto... ORPHA:220386
Secondary Short Bowel Syndrome
Failure to thrive, Polyphagia, Dehydration, Weight loss ORPHA:95427
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Central apnea, Failure to thrive, Small for gestational age, Bulimia, Hypotonia, Pedal edema, Obe... ORPHA:177904
Joubert Syndrome 21
Apnea, Ataxia, Dyspnea, Hypotonia, Respiratory failure, Dysphagia, Oculomotor apraxia, Chronic si... OMIM:615636
Meconium Aspiration Syndrome
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... ORPHA:70588
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Hypotonia, Apne... ORPHA:348
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Central apnea, Failure to thrive, Small for gestational age, Bulimia, Hypotonia, Pedal edema, Obe... ORPHA:177901
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To
Lethargy, Failure to thrive, Ataxia, Cerebral edema OMIM:237300
Auriculocondylar Syndrome 1
Apnea OMIM:602483
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Central apnea, Small for gestational age, Bulimia, Hypotonia, Pedal edema, Obesity, Self-injuriou... ORPHA:98754
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Death in infancy, Hypotonia, Death in childhood, Respiratory failure, Chylo... OMIM:620278
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Dehydration OMIM:602199
Myasthenic Syndrome, Congenital, 21, Presynaptic
Apnea, Hypotonia, Respiratory insufficiency, Fatigable weakness of skeletal muscles OMIM:617239
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Apnea, Aggressive behavior, Choreoathetosis, Hypertonia, Hyperkinetic movem... ORPHA:17
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss
Failure to thrive, Dehydration OMIM:602722
Hyperlysinuria With Hyperammonemia
Lethargy OMIM:238750
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Hypotonia, Generalized hypotonia,... OMIM:610188
Early-Onset Familial Hypoaldosteronism
Failure to thrive, Generalized hypotonia, Dehydration ORPHA:556030
Myotonia, Potassium-Aggravated
Stridor, Apneic episodes in infancy OMIM:608390
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypoventilation, Apnea, Hypotonia, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia... OMIM:619482
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure, Pulmonary edema ORPHA:70587
Acute Interstitial Pneumonia
Crackles, Pericardial effusion, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemi... ORPHA:79126
Sim1-Related Prader-Willi-Like Syndrome
Xerostomia, Obesity, Abdominal obesity, Skin-picking, Abnormal temper tantrums, Neonatal hypotoni... ORPHA:398079
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Polyhydramnios ORPHA:2759
Dopamine Beta-Hydroxylase Deficiency
Dyspnea, Rhinitis, Hypotonia, Dehydration ORPHA:230
Netherton Syndrome
Asthma, Emphysema, Dehydration ORPHA:634
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow response, ... ORPHA:2004
Supranuclear Palsy, Progressive, 2
Axial dystonia, Eyelid apraxia, Postural tremor, Parkinsonism, Rigidity, Bradykinesia, Apathy, Re... OMIM:609454
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity OMIM:616418
Illum Syndrome
Apnea OMIM:208155
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Respiratory distress, Exaggerated startle response, Severe muscular hypotonia, Facial hypotonia, ... ORPHA:438216
Joubert Syndrome With Hepatic Defect
Apnea, Ataxia, Tremor, Hypotonia, Oculomotor apraxia, Abnormal pattern of respiration ORPHA:1454
Congenital Left Ventricular Aneurysm
Apnea ORPHA:1055
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Death in infancy, Axial hypotonia, Small for gestational age, Tachypnea, Death in childhood, Pulm... OMIM:613320
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Generalized hypotonia, Generalized edema OMIM:271225
Neuroleptic Malignant Syndrome
Extrapyramidal muscular rigidity, Oculogyric crisis, Pulmonary embolism, Tremor, Chorea, Dehydrat... ORPHA:94093
Hemochromatosis, Type 2A
Lethargy OMIM:602390
Supranuclear Palsy, Progressive, 1
Axial dystonia, Eyelid apraxia, Parkinsonism, Tremor, Rigidity, Dysphagia, Bradykinesia, Apathy, ... OMIM:601104
Encephalitis Lethargica
Tremor, Lethargy, Parkinsonism, Hyperventilation ORPHA:83600
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive
Failure to thrive, Dehydration OMIM:264350
Chronic Bilirubin Encephalopathy
Central apnea, Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials ORPHA:529808
Acute Bilirubin Encephalopathy
Central apnea, Cerebral palsy, Hypertonia, Abnormal auditory evoked potentials ORPHA:529799
Glycogen Storage Disease Of Heart, Lethal Congenital
Respiratory distress, Apnea, Pericardial effusion, EEG with burst suppression, Anasarca, Peripher... OMIM:261740
Carnitine-Acylcarnitine Translocase Deficiency
Lethargy, Sudden episodic apnea, Respiratory insufficiency ORPHA:159
Magel2-Related Prader-Willi-Like Syndrome
Neonatal hypotonia, Impulsivity, Xerostomia, Increased body weight, Abdominal obesity, Abnormal t... ORPHA:398069
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Hypotonia, Oculomotor apraxia, Failure to thrive, Neon... OMIM:608091
Cortisone Reductase Deficiency 1
Obesity OMIM:604931
Familial Thyroid Dyshormonogenesis
Facial edema, Lethargy, Hypotonia ORPHA:95716
Hyperparathyroidism, Neonatal Severe
Dyspnea, Tachypnea, Hypotonia, Generalized hypotonia, Polydipsia, Failure to thrive OMIM:239200
Pearson Marrow-Pancreas Syndrome
Small for gestational age, Anorexia, Hydrops fetalis, Dehydration, Death in childhood, Lethargy, ... OMIM:557000
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia, Lethargy, Failure to thrive OMIM:210210
Carnitine Palmitoyl Transferase 1A Deficiency
Lethargy, Hypotonia, Hemiplegia/hemiparesis ORPHA:156
Hjv Or Hamp-Related Hemochromatosis
Lethargy ORPHA:79230
Esophageal Atresia
Respiratory distress, Vocal cord paresis, Small for gestational age, Failure to thrive in infancy... ORPHA:1199
Congenital Short Bowel Syndrome
Failure to thrive, Dehydration OMIM:615237
Stuve-Wiedemann Syndrome 1
Death in infancy, Apnea, Hypotonia, Respiratory insufficiency, Generalized hypotonia, Dysphagia, ... OMIM:601559
Isolated Complex I Deficiency
Ataxia, Hypotonia, Respiratory insufficiency, Lethargy, Failure to thrive ORPHA:2609
Serotonin Syndrome
Restlessness, Clonus, Tremor, Rigidity, Tachypnea, Hypertonia, Agitation, Myoclonus ORPHA:43116
Osteootohepatoenteric Syndrome
Asthma, Failure to thrive, Dehydration, Weight loss OMIM:619377
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia OMIM:606763
Corticosterone Methyloxidase Type I Deficiency
Failure to thrive, Dehydration OMIM:203400
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress, Neonatal hypotonia, Large for gestational age ORPHA:226313
Methylmalonic Aciduria And Homocystinuria, Cbld Type
Spastic ataxia, Hypotonia, Generalized hypotonia, Dystonia, Lethargy OMIM:277410
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Apnea, Tachypnea, Generalized hypotonia, Oculomotor apraxia, Failure to thrive, Recurrent aspirat... ORPHA:397715
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Dehydration OMIM:610600
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... ORPHA:230800
Obesity, Hyperphagia, And Developmental Delay
Obesity OMIM:613886
Nephronophthisis 15
Obesity OMIM:614845
Methylcobalamin Deficiency Type Cble
Lethargy, Lower limb hypertonia, Failure to thrive, Hypotonia ORPHA:2169
Carnitine Palmitoyltransferase I Deficiency
Lethargy, Hypotonia, Generalized hypotonia OMIM:255120
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Respiratory distress, Hypotonia, Attention deficit hyperactivity disorder, Gait ataxia OMIM:619383
Glucose/Galactose Malabsorption
Failure to thrive, Hypertonic dehydration OMIM:606824
Congenital Disorder Of Deglycosylation 1
Respiratory distress, Restlessness, Facial hypotonia, Involuntary movements, Oral-pharyngeal dysp... OMIM:615273
Oculopharyngodistal Myopathy 1
Respiratory distress, Ataxia, Hypercapnia, Reduced forced vital capacity, Respiratory insufficien... OMIM:164310
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Abnormal pyramidal sign, Hypotonia, Lethargy, Failure to thrive OMIM:201470
Cystic Fibrosis
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Asthma, Recurrent ... OMIM:219700
Multiple System Atrophy 1, Susceptibility To
Ataxia, Parkinsonism, Rigidity, Tremor, Babinski sign, Bradykinesia OMIM:146500
Enteric Anendocrinosis
Dehydration ORPHA:83620
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... OMIM:616482
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Lethargy OMIM:618120
Hepatic Veno-Occlusive Disease
Increased body weight ORPHA:890
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Cirrhosis, Familial
Pulmonary arterial hypertension, Ascites, Lethargy OMIM:215600
Pseudohypoaldosteronism, Type I, Autosomal Dominant
Failure to thrive, Dehydration OMIM:177735
Craniofaciofrontodigital Syndrome
Respiratory distress, Edema, Polyhydramnios, Pericardial effusion, Dyspnea, Large for gestational... ORPHA:363705
Slc35A1-Cdg
Respiratory distress, Pneumonia, Hypoxemia ORPHA:238459
Netherton Syndrome
Hypernatremic dehydration, Allergic rhinitis, Asthma, Angioedema, Chronic rhinitis, Failure to th... OMIM:256500
Farber Disease
Respiratory distress, Failure to thrive, Paraparesis, Hydrops fetalis, Respiratory insufficiency,... ORPHA:333
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... ORPHA:308552
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Polydipsia, Failure to thrive, Hypertonic dehydration OMIM:125800
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Episodic tachypnea OMIM:615160
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Polydipsia, Failure to thrive, Hypertonic dehydration OMIM:304800
Isolated Thyroid-Stimulating Hormone Deficiency
Facial edema, Hypotonia, Depression, Clumsiness, Attention deficit hyperactivity disorder, Lethar... ORPHA:90674
Diaphanospondylodysostosis
Respiratory distress, Increased nuchal translucency, Hypotonia, Respiratory insufficiency, Genera... OMIM:608022
Dend Syndrome
Axial hypotonia, Dehydration, Hypsarrhythmia ORPHA:79134
Thyroid Dyshormonogenesis 1
Lethargy OMIM:274400
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Clonus, Respiratory insufficiency, Depression, Dehydration, Self-injurious beha... ORPHA:534
Ogden Syndrome
Lethargy, Torticollis, Hypertonia, Generalized hypotonia ORPHA:276432
Renal Hypoplasia
Polydipsia, Small for gestational age, Dehydration ORPHA:93101
Colchicine Poisoning
Respiratory distress, Cardiorespiratory arrest, Dehydration ORPHA:31824
Distal Renal Tubular Acidosis
Paralysis, Respiratory insufficiency due to muscle weakness, Dehydration, Polydipsia, Failure to ... ORPHA:18
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Neonatal asphyxia, Failure to thrive, Dehydration ORPHA:90791
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency
Lethargy, Failure to thrive ORPHA:2089
Nasolacrimal Duct Cyst
Intercostal retractions, Periorbital edema, Episodic respiratory distress, Stridor, Paroxysmal dy... ORPHA:141083
Slc39A8-Cdg
Sudden episodic apnea, Failure to thrive in infancy, Severe muscular hypotonia, Hypsarrhythmia, D... ORPHA:468699
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Mgat2-Cdg
Respiratory distress, Hydrops fetalis, Hypotonia, Hypsarrhythmia, Generalized hypotonia, Failure ... ORPHA:79329
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Dystonia, Rigidity, Truncal ataxia, Bradykinesia, Poor fine motor coordination, Dysdiadochokinesi... ORPHA:309854
Schwartz-Jampel Syndrome
Death in infancy, Apnea, Polyhydramnios, Cachexia, Respiratory insufficiency, Blepharospasm, Hype... ORPHA:800
Central Hypoventilation Syndrome, Congenital, 1
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation OMIM:209880
Methylmalonic Aciduria And Homocystinuria, Cblf Type
Incoordination, Small for gestational age, Hypotonia, Generalized hypotonia, Lethargy, Failure to... OMIM:277380
Trichinellosis
Edema, Facial edema, Periorbital edema, Babinski sign, Hemiparesis, Apathy, Dysphagia, Hemiplegia... ORPHA:863
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Generalized hypotonia OMIM:617895
Coenzyme Q10 Deficiency, Primary, 2
Overweight, Obesity OMIM:614651
Xp21 Deletion Syndrome
Neonatal hypotonia, Spasticity, Apneic episodes in infancy ORPHA:261476
Marshall-Smith Syndrome
Failure to thrive, Axial hypotonia, Apnea, Hypotonia, Stridor, Hypertonia, Aspiration pneumonia, ... OMIM:602535
Glucose-Galactose Malabsorption
Failure to thrive, Dehydration, Weight loss ORPHA:35710
Bardet-Biedl Syndrome 8
Obesity OMIM:615985
Shigellosis
Failure to thrive in infancy, Pneumonia, Anorexia, Dehydration ORPHA:810
Hyperchlorhidrosis, Isolated
Hypernatremic dehydration, Failure to thrive OMIM:143860
Tarp Syndrome
Athetoid cerebral palsy, Failure to thrive, Apnea, Generalized hypotonia ORPHA:2886
Congenital Tufting Enteropathy
Failure to thrive, Dehydration, Weight loss ORPHA:92050
Agnathia-Otocephaly Complex
Respiratory distress, Polyhydramnios, Tracheomalacia OMIM:202650
Osteopathia Striata With Cranial Sclerosis
Apnea, Polyhydramnios, Hypotonia, Generalized hypotonia, Tracheomalacia, Failure to thrive, Oligo... OMIM:300373
Lujo Hemorrhagic Fever
Respiratory distress, Resting tremor, Crackles, Facial edema, Nonproductive cough, Periorbital ed... ORPHA:319213
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Obesity ORPHA:329249
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2707
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Episodic tachypnea ORPHA:2872
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Failure to thrive, Dehydration OMIM:615453
Neuromuscular Oculoauditory Syndrome
Respiratory distress, Decreased nerve conduction velocity, Generalized hypotonia, Aspiration, Dec... OMIM:618733
Acrodermatitis Enteropathica, Zinc-Deficiency Type
Tremor, Lethargy, Failure to thrive, Ataxia OMIM:201100
Transcobalamin Ii Deficiency
Lethargy, Failure to thrive, Ataxia, Hypotonia OMIM:275350
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Facial hypotonia, Respiratory insufficiency due to muscle weakne... ORPHA:365
Methylmalonic Aciduria And Homocystinuria, Cblc Type
Tremor, Hypotonia, Abnormality of extrapyramidal motor function, Generalized hypotonia, Lethargy,... OMIM:277400
Wolcott-Rallison Syndrome
Ascites, Dehydration, Decreased body weight ORPHA:1667
Cocaine Intoxication
Respiratory distress, Pulmonary edema, Involuntary movements, Tremor, Wheezing, Tachypnea, Pneumo... ORPHA:90068
Adrenal Hypoplasia, Congenital
Failure to thrive, Dehydration OMIM:300200
Histiocytoid Cardiomyopathy
Tachypnea, Cough, Hemiplegia, Lethargy, Failure to thrive, Pulmonary edema ORPHA:137675
Brachytelephalangic Chondrodysplasia Punctata
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... ORPHA:79345
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Edema, Dyspnea, Pneumothorax, Dehydration, Stridor, Respiratory ... ORPHA:79404
Genetic Transient Congenital Hypothyroidism
Lethargy, Hypotonia, Edema ORPHA:226316
Adnp Syndrome
Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Truncal obesity, Hypertonia... ORPHA:404448
Mucopolysaccharidosis Type 1
Hemiplegia/hemiparesis, Sinusitis, Apnea, Cough ORPHA:579
Congenital Enterovirus Infection
Respiratory distress, Fetal ascites, Polyhydramnios, Pericardial effusion, Hydrops fetalis, Pleur... ORPHA:292
Pancreatic And Cerebellar Agenesis
Death in infancy, Failure to thrive, Apnea OMIM:609069
Vipoma
Anorexia, Respiratory insufficiency due to muscle weakness, Dehydration, Weight loss, Ascites ORPHA:97282
Shprintzen-Goldberg Syndrome
Failure to thrive, Apnea, Hypotonia ORPHA:2462
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Hypothyroidism, Congenital, Nongoitrous, 6
Increased body mass index, Increased body weight OMIM:614450
Symptomatic Form Of Hfe-Related Hemochromatosis
Lethargy, Apathy, Joint swelling, Weight loss ORPHA:465508
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Hypotonia, Neonatal death OMIM:231680
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive
Dehydration OMIM:620126
Oligomeganephronia
Polydipsia, Small for gestational age, Dehydration ORPHA:2260
Lamellar Ichthyosis
Dehydration ORPHA:313
Hypoinsulinemic Hypoglycemia And Body Hemihypertrophy
Truncal obesity, Large for gestational age ORPHA:293964
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive
Dehydration OMIM:620125
Tetrasomy 5P
Respiratory distress, Pulmonary arterial hypertension, Neonatal hypotonia, Failure to thrive ORPHA:3309
Isolated Permanent Neonatal Diabetes Mellitus
Ataxia, Hypotonia, Dehydration, Weight loss, Apraxia, Failure to thrive ORPHA:99885
Sepsis In Premature Infants
Small for gestational age, Abnormal mucociliary clearance, Edema, Dyspnea, Nasal flaring, Abnorma... ORPHA:90051
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Methylmalonic Acidemia With Homocystinuria Type Cblf
Lethargy, Failure to thrive, Hypotonia ORPHA:79284
Nephrogenic Diabetes Insipidus
Hypernatremic dehydration, Polyhydramnios, Anorexia, Polydipsia, Failure to thrive ORPHA:223
Bohring-Opitz Syndrome
Axial hypotonia, Facial hypotonia, Apnea, Lower limb hypertonia, Severe failure to thrive ORPHA:97297
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Respiratory distress, Stillbirth, Polyhydramnios OMIM:151210
Peroxisome Biogenesis Disorder 5A (Zellweger)
Death in infancy, Palpebral edema, Small for gestational age, Hypotonia, Death in adolescence, At... OMIM:614866
Achondroplasia
Respiratory distress, Death in infancy, Polyhydramnios, Upper airway obstruction, Infantile muscu... OMIM:100800
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Neonatal hypotonia, Severe muscular hypotonia, Obesity, Head-banging, Abnor... ORPHA:177907
Mosaic Variegated Aneuploidy Syndrome
Apnea, Polyhydramnios, Increased nuchal translucency, Hypotonia, Ascites ORPHA:1052
Ethylene Glycol Poisoning
Ataxia, Tachypnea, Episodic respiratory distress, Slurred speech, Addictive alcohol use, Myoclonu... ORPHA:31826
Diarrhea 1, Secretory Chloride, Congenital
Failure to thrive, Polyhydramnios, Dehydration OMIM:214700
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Ogden Syndrome
Torticollis, Pulmonary edema, Apnea, Lymphedema, Hypotonia, Pulmonary arterial hypertension, Rest... OMIM:300855
Infantile Liver Failure Syndrome 2
Lethargy OMIM:616483
Microsporidiosis
Sinusitis, Pneumonia, Anorexia, Cachexia, Dehydration, Weight loss, Rhinitis ORPHA:2552
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Respiratory distress, Polyhydramnios ORPHA:990
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Respiratory distress, Joint swelling, Failure to thrive in infancy OMIM:612852
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Respiratory distress, Pulmonary arterial hypertension, Infantile muscular hypotonia ORPHA:2519
Cardiomyopathy, Familial Hypertrophic, 4
Respiratory distress, Pericardial effusion, Dyspnea, Ascites, Pulmonary edema OMIM:115197
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Dehydration, Weight loss, Pulmonary arterial hypertension, Ascites ORPHA:275761
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Respiratory distress, Neonatal respiratory distress, Hypotonia, Generalized hypotonia, Tracheomal... OMIM:217980
Pearson Syndrome
Axial hypotonia, Small for gestational age, Ataxia, Hypotonia, Dehydration, Hydrops fetalis, Corn... ORPHA:699
Wolfram Syndrome
Central apnea, Polydipsia, Ataxia, Respiratory insufficiency ORPHA:3463
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency
Neonatal hypotonia, Lethargy, Failure to thrive ORPHA:71212
Ramos-Arroyo Syndrome
Respiratory distress, Xerostomia, Decreased body weight, Severe failure to thrive, Self-mutilation ORPHA:1051
Genitopatellar Syndrome
Apnea ORPHA:85201
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To
Ataxia, Episodic ataxia, Lethargy, Failure to thrive, Cerebral edema OMIM:311250
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Campomelic Dysplasia
Respiratory distress, Neonatal respiratory distress, Apnea, Polyhydramnios, Hypotonia, Stridor, T... OMIM:114290
Citrullinemia, Classic
Lethargy, Failure to thrive, Ataxia, Cerebral edema OMIM:215700
Late-Onset Isolated Acth Deficiency
Lethargy, Failure to thrive, Anorexia, Weight loss ORPHA:199299
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Hypoventilation, Exaggerated startle response, Dystonia, Apnea, Involuntary movements, Breathing ... ORPHA:438213
Congenital Myopathy 22B, Severe Fetal
Respiratory distress, Nonimmune hydrops fetalis, Polyhydramnios, Frequent falls, Hypotonia, Pleur... OMIM:620369
Hypothyroidism Due To Tsh Receptor Mutations
Lethargy, Hypotonia, Edema ORPHA:90673
Medulloblastoma
Ataxia, Dysmetria, Progressive cerebellar ataxia, Lethargy, Cerebellar ataxia associated with qua... ORPHA:616
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Axial hypotonia, Tachypnea, Respiratory insufficiency, Tetraplegia, Death in childhood, Respirato... OMIM:618278
Q Fever
Respiratory distress, Pneumonia, Anorexia, Pericardial effusion, Weight loss, Cough, Pleural effu... ORPHA:781
Coronary Arterial Fistula
Orthopnea, Tachypnea, Pedal edema, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Spondyloepiphyseal Dysplasia Congenita
Respiratory distress, Restrictive ventilatory defect, Hypotonia, Generalized hypotonia OMIM:183900
Radio-Renal Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion ORPHA:3015
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Aggressive behavior, Asthma, Nasal flaring, Poor coordination, Obesity, Self-injurious behavior, ... ORPHA:466943
Marburg Hemorrhagic Fever
Anorexia, Aggressive behavior, Nonproductive cough, Dehydration, Lethargy ORPHA:99826
Bartter Syndrome Type 4
Small for gestational age, Polyhydramnios, Hypotonia, Dehydration, Clumsiness, Severe failure to ... ORPHA:89938
Pachyonychia Congenita
Respiratory distress, Failure to thrive ORPHA:2309
Nocardiosis
Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo... ORPHA:31204
Stüve-Wiedemann Syndrome
Respiratory distress, Apnea, Asthma, Hypotonia, Oligohydramnios ORPHA:3206
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease
Neonatal death, Dehydration, Oligohydramnios OMIM:263200
Amoebiasis Due To Free-Living Amoebae
Restlessness, Sinusitis, Ataxia, Pneumonia, Hemiparesis, Lethargy, Cerebral edema ORPHA:68
Resistance To Thyrotropin-Releasing Hormone Syndrome
Overweight, Lethargy, Depression ORPHA:99832
Infantile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Dehydration ORPHA:411629
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Small for gestational age, Pericardial effusi... ORPHA:555874
Mucopolysaccharidosis-Plus Syndrome
Respiratory distress, Recurrent pneumonia, Hypotonia, Death in childhood OMIM:617303
Toxic Epidermal Necrolysis
Respiratory distress, Cough, Weight loss, Restrictive ventilatory defect, Dysphagia, Polydipsia ORPHA:537
Diethylstilbestrol Syndrome
Central apnea, Small for gestational age ORPHA:1916
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Increased body weight ORPHA:589905
Rajab Interstitial Lung Disease With Brain Calcifications 1
Failure to thrive, Axial hypotonia, Small for gestational age, Tachypnea, Hypotonia, Respiratory ... OMIM:613658
Acth-Independent Macronodular Adrenal Hyperplasia 2
Abdominal obesity, Increased body weight OMIM:615954
Osteogenesis Imperfecta, Type X
Respiratory distress, Recurrent pneumonia, Generalized hypotonia, Death in childhood, Chronic lun... OMIM:613848
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Failure to thrive, Tachypnea, Small for gestational age ORPHA:860
Cystinosis, Nephropathic
Failure to thrive in infancy, Oral-pharyngeal dysphagia, Dehydration, Weight loss, Dysphagia, Pol... OMIM:219800
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Peripheral edema,... ORPHA:99106
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Respiratory distress OMIM:606164
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Respiratory distress, Ataxia, Hypotonia, Ascites, Dystonia, Failure to thrive OMIM:256810
Chromosome 6Q24-Q25 Deletion Syndrome
Respiratory distress, Hypotonia OMIM:612863
Pseudohypoparathyroidism, Type Ib
Obesity OMIM:603233
Paternal Uniparental Disomy Of Chromosome 6
Neonatal respiratory distress, Dehydration, Oligohydramnios ORPHA:96191
Argininosuccinic Aciduria
Lethargy, Failure to thrive, Ataxia, Cerebral edema OMIM:207900
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Neonatal respiratory distress, Apnea, Impulsivity, Fetal ascites, Asthma, Hypotonia, Dysphagia, J... OMIM:619503
Eisenmenger Syndrome
Respiratory distress, Generalized edema, Increased pulmonary vascular resistance, Wheezing, Pedal... ORPHA:97214
Kniest Dysplasia
Respiratory distress, Tracheomalacia OMIM:156550
Lysinuric Protein Intolerance
Respiratory insufficiency, Oral aversion, Infantile muscular hypotonia, Lethargy, Failure to thrive ORPHA:470
Thrombotic Thrombocytopenic Purpura, Hereditary
Respiratory distress, Tremor OMIM:274150
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Torticollis, Neonatal hypotonia, Repeated pneumothoraces, Hypotonia, Respir... ORPHA:536467
Hypothyroidism, Congenital, Nongoitrous, 2
Stridor, Lethargy, Hypotonia OMIM:218700
Auriculocondylar Syndrome
Respiratory distress, Generalized hypotonia ORPHA:137888
Shwachman-Diamond Syndrome 1
Respiratory distress, Neonatal respiratory distress, Failure to thrive, Small for gestational age OMIM:260400
Rh Deficiency Syndrome
Hypoxemia, Tachypnea, Miscarriage, Oligohydramnios ORPHA:71275
Thyroid Hormone Resistance, Generalized, Autosomal Recessive
Small for gestational age, Increased body weight OMIM:274300
Juvenile Nephropathic Cystinosis
Polydipsia, Failure to thrive, Dehydration ORPHA:411634
Familial Hypoaldosteronism
Lethargy, Failure to thrive ORPHA:427
Familial Renal Glucosuria
Dehydration ORPHA:69076
Rodrigues Blindness
Nasal flaring OMIM:268320
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Pleur... ORPHA:340
Autosomal Recessive Malignant Osteopetrosis
Tremor, Pulmonary arterial hypertension, Apnea, Chronic rhinitis ORPHA:667
Idiopathic Hypereosinophilic Syndrome
Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Dysphagia, Joint swelling,... ORPHA:3260
Bacterial Toxic-Shock Syndrome
Respiratory distress, Sinusitis, Pneumonia, Edema, Tachypnea ORPHA:36234
Microvillus Inclusion Disease
Dehydration ORPHA:2290
Multiple Endocrine Neoplasia Type 1
Anorexia, Dehydration, Weight loss, Depression, Lethargy ORPHA:652
Narcolepsy 7
Obesity OMIM:614250
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Death in infancy, Small for gestational age, Ataxia, Tremor, Tachypnea, Hypotonia, Dysphagia, Dys... OMIM:220111
Exercise-Induced Malignant Hyperthermia
Ataxia, Crackles, Tachypnea, Hypocapnia, Lethargy ORPHA:466650
Arima Syndrome
Ataxia, Dyspnea, Tachypnea, Hypotonia, Generalized hypotonia, Polydipsia OMIM:243910
Body Mass Index Quantitative Trait Locus 19
Obesity OMIM:617885
Sting-Associated Vasculopathy, Infantile-Onset
Failure to thrive, Tachypnea OMIM:615934
Arboleda-Tham Syndrome
Respiratory distress, Neonatal respiratory distress, Dystonia, Axial hypotonia, Hypotonia, Upper ... OMIM:616268
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea, Infantile muscular hypotonia ORPHA:2751
Cryptococcosis
Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Cerebral edema ORPHA:1546
Blue Diaper Syndrome
Increased body weight ORPHA:94086
Bartter Syndrome, Type 2, Antenatal
Small for gestational age, Polyhydramnios, Dehydration, Polydipsia, Failure to thrive OMIM:241200
Arterial Tortuosity Syndrome
Respiratory distress, Dyspnea, Hypotonia, Cardiorespiratory arrest, Respiratory failure ORPHA:3342
Double Outlet Right Ventricle
Failure to thrive, Tachypnea ORPHA:3426
Congenital Tracheal Stenosis
Respiratory distress, Polyhydramnios, Fetal ascites, Neonatal asphyxia, Wheezing, Dyspnea, Upper ... ORPHA:141127
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Miscarriage, Dehydration, Weight loss, Hypocapnia, Failure to thrive ORPHA:90794
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Overgrowth, Small for gestational age, Large for gestational age ORPHA:254534
Mandibulofacial Dysostosis, Guion-Almeida Type
Respiratory distress OMIM:610536
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Tuberous Sclerosis Complex
Respiratory distress, Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive beha... ORPHA:805
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted
Respiratory distress, Generalized hypotonia OMIM:300968
Posterior Urethral Valve
Lethargy, Oligohydramnios ORPHA:93110
Scorpion Envenomation
Restlessness, Hemifacial spasm, Ataxia, Edema, Tremor, Tachypnea, Hyperkinetic movements, Myoclon... ORPHA:466677
Pfeiffer Syndrome Type 2
Respiratory distress, Tracheomalacia ORPHA:93259
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:168558
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Failure to thrive, Dehydration ORPHA:289548
Listeriosis
Respiratory distress, Miscarriage, Pneumonia, Ataxia, Tremor, Hemiparesis, Respiratory failure, M... ORPHA:533
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Respiratory distress, Hypotonia, Stridor, Pulmonary arterial hypertension, Airway obstruction ORPHA:505248
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Respiratory distress ORPHA:1555
Proximal Renal Tubular Acidosis
Polydipsia, Failure to thrive, Dehydration ORPHA:47159
Vici Syndrome
Abnormal posturing, Failure to thrive, Hypotonia, Dysphagia OMIM:242840
Hyperparathyroidism, Transient Neonatal
Respiratory distress, Polyhydramnios OMIM:618188
Paroxysmal Nocturnal Hemoglobinuria
Dyspnea, Dysphagia, Lethargy, Pulmonary embolism ORPHA:447
Pfeiffer Syndrome Type 3
Respiratory distress, Tracheomalacia ORPHA:93260
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Facial edema, Lethargy, Overweight, Hypotonia ORPHA:226307
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Respiratory distress, Failure to thrive in infancy, Pneumonia, Cachexia, Interstitial pneumonitis ORPHA:37042
Rubinstein-Taybi Syndrome 1
Respiratory distress, Hyperactivity, Incoordination, Small for gestational age, Impulsivity, Poly... OMIM:180849
Proprotein Convertase 1/3 Deficiency
Obesity OMIM:600955
Meier-Gorlin Syndrome 1
Respiratory distress, Death in infancy, Small for gestational age, Emphysema, Failure to thrive OMIM:224690
Gitelman Syndrome
Respiratory distress, Salt craving, Paralysis, Pericardial effusion, Polydipsia, Failure to thrive ORPHA:358
Smith-Magenis Syndrome
Increased body weight OMIM:182290
Bartter Syndrome, Type 3
Dehydration OMIM:607364
Bartter Syndrome, Type 1, Antenatal
Failure to thrive, Small for gestational age, Polyhydramnios, Dehydration OMIM:601678
Schinzel-Giedion Syndrome
Respiratory distress, Failure to thrive in infancy, Recurrent pneumonia, Vocal cord paralysis, Hy... ORPHA:798
Hydranencephaly
Lethargy, Spastic diplegia, Opisthotonus ORPHA:2177
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Increased body weight OMIM:300860
Diamond-Blackfan Anemia 10
Respiratory distress OMIM:613309
Plague
Respiratory distress, Edema, Anorexia, Slurred speech, Depression, Acute infectious pneumonia ORPHA:707
Congenital Alveolar Capillary Dysplasia
Respiratory distress, Pulmonary arterial hypertension ORPHA:210122
Beare-Stevenson Cutis Gyrata Syndrome
Respiratory distress OMIM:123790
Ear-Patella-Short Stature Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2554
Pruritic Urticarial Papules And Plaques Of Pregnancy
Increased body weight ORPHA:64745
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Apnea, Depression ORPHA:285
Wilson Disease
Failure to thrive, Increased body weight, Weight loss ORPHA:905
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or... ORPHA:95455
Shiga Toxin-Associated Hemolytic Uremic Syndrome
Dehydration ORPHA:90038
Hyperoxaluria, Primary, Type I
Dehydration OMIM:259900
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Respiratory distress, Small for gestational age, Neonatal hypotonia, Failure to thrive, Oligohydr... ORPHA:2255
Glycerol Kinase Deficiency
Lethargy, Small for gestational age OMIM:307030
Hereditary Fructose Intolerance
Lethargy ORPHA:469
8Q24.3 Microdeletion Syndrome
Respiratory distress, Hyperactivity, Small for gestational age, Tics, Generalized hypotonia, Dysp... ORPHA:508488
Aortic Arch Interruption
Respiratory distress, Tachypnea, Pedal edema, Exertional dyspnea ORPHA:2299
Primary Fanconi Renotubular Syndrome
Dehydration, Weight loss ORPHA:3337
Diamond-Blackfan Anemia
Lethargy, Small for gestational age, Nonimmune hydrops fetalis ORPHA:124
Scimitar Syndrome
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough ORPHA:185
Coccidioidomycosis
Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion ORPHA:228123
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Tachypnea OMIM:613834
Pigmented Nodular Adrenocortical Disease, Primary, 4
Increased body weight OMIM:615830
Kasabach-Merritt Syndrome
Respiratory distress, Hypopnea ORPHA:2330
Osteoglophonic Dysplasia
Respiratory distress, Failure to thrive OMIM:166250
Malignant Hyperthermia Of Anesthesia
Tachypnea, Hypercapnia ORPHA:423
Isolated Arrhinia
Respiratory distress ORPHA:1134
Double Outlet Left Ventricle
Failure to thrive, Tachypnea ORPHA:3427
Leptospirosis
Respiratory distress, Pleural effusion, Anorexia, Cough ORPHA:509
Doors Syndrome
Respiratory distress, Polyhydramnios, EEG abnormality, Myoclonus, Aspiration pneumonia, Infantile... ORPHA:79500
Sotos Syndrome
Overgrowth, Increased body weight, Tall stature OMIM:117550
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome
Respiratory distress, Hypotonia, Neonatal respiratory distress, Respiratory acidosis OMIM:614748
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... OMIM:233450
Heterotaxy, Visceral, 1, X-Linked
Respiratory distress, Failure to thrive, Polyhydramnios OMIM:306955
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Respiratory distress, Rhinitis OMIM:305100
Fructose Intolerance, Hereditary
Lethargy, Failure to thrive OMIM:229600
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive ORPHA:2556
Retinitis Pigmentosa 74
Obesity OMIM:616562
Cleidocranial Dysplasia 1
Respiratory distress, Neonatal respiratory distress OMIM:119600
Pineoblastoma
Lethargy, Paralysis ORPHA:251909
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Respiratory distress, Polyhydramnios OMIM:617088
Adrenocortical Carcinoma
Increased body weight, Weight loss ORPHA:1501
Generalized Arterial Calcification Of Infancy
Respiratory distress, Failure to thrive in infancy, Polyhydramnios, Edema, Pericardial effusion, ... ORPHA:51608
Pallister-Killian Syndrome
Axial hypotonia, Edema of the dorsum of feet, Polyhydramnios, Hypotonia, Obesity, Hypertonia, Apn... OMIM:601803
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Respiratory distress, Failure to thrive ORPHA:83617
Congenital Total Pulmonary Venous Return Anomaly
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... ORPHA:99125
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Abdominal obesity, Increased body weight ORPHA:189427
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Failure to thrive, Increased body weight ORPHA:264580
Ulbright-Hodes Syndrome
Respiratory distress, Respiratory failure, Pneumothorax, Oligohydramnios ORPHA:3404
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Increased body weight ORPHA:79240
Insulin-Resistance Syndrome Type B
Abnormality of body weight, Decreased body weight, Increased body weight, Weight loss ORPHA:2298
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability
Respiratory distress, Infantile muscular hypotonia ORPHA:480880
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria
Respiratory distress, Failure to thrive, Recurrent pneumonia, Generalized hypotonia ORPHA:99646
Pmm2-Cdg
Respiratory distress, Axial hypotonia, Ataxia, Abnormality of coordination, Lymphedema, Pericardi... ORPHA:79318
Truncus Arteriosus
Tachypnea, Pulmonary edema ORPHA:3384
Hellp Syndrome
Increased body weight ORPHA:244242
Cushing Disease
Truncal obesity, Abdominal obesity, Increased body weight ORPHA:96253
Alström Syndrome
Respiratory distress, Incoordination, Ataxia, Chronic pulmonary obstruction, Recurrent pneumonia,... ORPHA:64
Cushing Syndrome Due To Ectopic Acth Secretion
Truncal obesity, Abdominal obesity, Increased body weight, Weight loss ORPHA:99889
Carney Complex
Abdominal obesity, Increased body weight, Tall stature ORPHA:1359

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 Slc6a9

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 Slc6a9.

No publications found that use IMPC mice or data for Slc6a9.

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