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Gene: Grin1 MGI:95819

Gene Summary

Name:

glutamate receptor, ionotropic, NMDA1 (zeta 1)

Synonyms:

M100174, Nmdar, GluRzeta1, NR1, Rgsc174, NMDAR1

Order Alleles

IMPC Data Collections

Body Weight Measurements
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.

Phenotype	System	Allele	Zyg	Sex	Life Stage	P Value
decreased circulating potassium level		Grin1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	2.32×10^-05
thrombocytopenia		Grin1^{tm1a(EUCOMM)Wtsi}	HET		Early adult	5.35×10^-06

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

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Viewing: all phenotypes

lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy	Images	Zygosity	Mutant Expr
Adrenal gland	N/A	heterozygote	0.0% (0 of 2)
Aorta	N/A	heterozygote	Not available
Blood vessel	N/A	heterozygote	0.0% (0 of 2)
Bone	N/A	heterozygote	0.0% (0 of 2)
Brain	N/A	heterozygote	100% (2 of 2)
Brainstem	N/A	heterozygote	Not available
Brown adipose tissue	N/A	heterozygote	0.0% (0 of 2)
Cartilage tissue	N/A	heterozygote	0.0% (0 of 2)
Cerebellum	N/A	heterozygote	Not available
Cerebral cortex	N/A	heterozygote	Not available
Eye	N/A	heterozygote	0.0% (0 of 2)
Gall bladder	N/A	heterozygote	0.0% (0 of 2)
Heart	N/A	heterozygote	0.0% (0 of 2)
Hippocampus	N/A	heterozygote	Not available
Hypothalamus	N/A	heterozygote	Not available
Kidney	N/A	heterozygote	0.0% (0 of 2)
Large intestine	N/A	heterozygote	0.0% (0 of 2)
Liver	N/A	heterozygote	0.0% (0 of 2)
Lower urinary tract	N/A	heterozygote	0.0% (0 of 2)
Lung	N/A	heterozygote	0.0% (0 of 2)
Lymph node	N/A	heterozygote	0.0% (0 of 2)
Mammary gland	N/A	heterozygote	0.0% (0 of 2)
Esophagus	N/A	heterozygote	0.0% (0 of 2)
Olfactory lobe	N/A	heterozygote	Not available
Ovary	N/A	heterozygote	0.0% (0 of 2)
Oviduct	N/A	heterozygote	0.0% (0 of 2)
Pancreas	N/A	heterozygote	0.0% (0 of 2)
Parathyroid gland	N/A	heterozygote	0.0% (0 of 2)
Peripheral nervous system	N/A	heterozygote	0.0% (0 of 2)
Peyer's patch	N/A	heterozygote	0.0% (0 of 2)
Pituitary gland	N/A	heterozygote	0.0% (0 of 2)
Prostate gland	N/A	heterozygote	0.0% (0 of 2)
Skeletal muscle tissue	N/A	heterozygote	0.0% (0 of 2)
Skin	N/A	heterozygote	0.0% (0 of 2)
Small intestine	N/A	heterozygote	0.0% (0 of 2)
Spinal cord	N/A	heterozygote	0.0% (0 of 2)
Spleen	N/A	heterozygote	0.0% (0 of 2)
Stomach	N/A	heterozygote	0.0% (0 of 2)
Striatum	N/A	heterozygote	Not available
Testis	N/A	heterozygote	Not available
Thymus	N/A	heterozygote	0.0% (0 of 2)
Thyroid gland	N/A	heterozygote	0.0% (0 of 2)
Trachea	N/A	heterozygote	0.0% (0 of 2)
Uterus	N/A	heterozygote	0.0% (0 of 2)
White adipose tissue	N/A	heterozygote	0.0% (0 of 2)

No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy	Background staining in controls (WT)
adrenal gland	0.0%
aorta	0.0%
blood vessel
bone	0.0%
brain	0.0%
brainstem	0.0%
brown adipose tissue	0.0%
cartilage tissue	0.0%
cerebellum	0.0%
cerebral cortex	0.0%
eye	0.0%
gall bladder	0.0%
heart	0.0%
hippocampus	0.0%
hypothalamus	0.0%
kidney	0.0%
large intestine	0.0%
liver	0.0%
lower urinary tract	0.0%
lung	0.0%
lymph node	0.0%
mammary gland	0.0%
oesophagus
olfactory lobe	0.0%
ovary	0.0%
oviduct	0.0%
pancreas	0.0%
parathyroid gland	0.0%
peripheral nervous system	0.0%
peyer's patch
pituitary gland	0.0%
prostate gland	0.0%
skeletal muscle tissue
skin	0.0%
small intestine	0.0%
spinal cord	0.0%
spleen	0.0%
stomach	0.0%
striatum	0.0%
testis	0.0%
thymus	0.0%
thyroid gland	0.0%
trachea	0.0%
uterus	0.0%
white adipose tissue	0.0%

No Embryo expression data was found for this gene.

Associated Images

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

Legacy Phenotype Associated Images

Grin1^{tm1a(EUCOMM)Wtsi}
head, HET, Male, WTSI

Grin1^{tm1a(EUCOMM)Wtsi}
body, HET, Male, WTSI

View all 105 images

Grin1^{tm1a(EUCOMM)Wtsi}
eye, abnormal retinal pigmentation, HET, Male, WTSI

Grin1^{tm1a(EUCOMM)Wtsi}
eye, fused cornea and lens, corneal vascularization, corneal opacity, HET, Female, WTSI

Grin1^{tm1a(EUCOMM)Wtsi}
eye, abnormal pupil morphology, abnormal placement of pupils, HET, Male, WTSI

Grin1^{tm1a(EUCOMM)Wtsi}
back skin, HET, Female, WTSI

Human diseases caused by Grin1 mutations

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

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

Human diseases associated with Grin1 (5 diseases)
Human diseases predicted to be associated with Grin1 (1615 diseases)

The table below shows human diseases associated to Grin1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe...	OMIM:617820
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Dystonia, Oculogyric crisis, Inability to walk, Self-injurious behavior, Inappropriate laughter, ...	OMIM:614254
Developmental And Epileptic Encephalopathy 101	Apnea, Myoclonus, Opisthotonus	OMIM:619814
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Early Infantile Epileptic Encephalopathy	Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Self-injuriou...	ORPHA:1934

The table below shows human diseases predicted to be associated to Grin1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Autism, Susceptibility To, 20	Attention deficit hyperactivity disorder, Compulsive behaviors, Impaired social interactions	OMIM:618830
Attention Deficit-Hyperactivity Disorder	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:143465
Attention Deficit-Hyperactivity Disorder 8	Attention deficit hyperactivity disorder	OMIM:619957
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7	Attention deficit hyperactivity disorder, Depression	OMIM:613003
Schizophrenia 15	Hyperactivity	OMIM:613950
Potocki-Lupski syndrome (17p11.2 duplication syndrome)	Short attention span, Hyperactivity	DECIPHER:19
Autism, Susceptibility To, X-Linked 4	Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior	OMIM:300830
Asperger Syndrome, Susceptibility To, 1	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608638
Asperger Syndrome, Susceptibility To, 2	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608631
22q13 deletion syndrome (Phelan-Mcdermid syndrome)	Hyperactivity	DECIPHER:20
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome	Hyperactivity, Abnormal social behavior	ORPHA:436151
Gilles De La Tourette Syndrome	Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,...	OMIM:137580
Intellectual Developmental Disorder, Autosomal Recessive 3	Short attention span, Hyperactivity	OMIM:608443
Intellectual Developmental Disorder, Autosomal Recessive 64	Impaired social interactions, Aggressive behavior	OMIM:618103
Autism	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:209850
Autism, Susceptibility To, 8	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:607373
Intellectual Developmental Disorder, Autosomal Recessive 66	Attention deficit hyperactivity disorder, Aggressive behavior, Shyness	OMIM:618221
Intellectual Developmental Disorder With Autism And Speech Delay	Inability to walk, Abnormal repetitive mannerisms, Impaired social interactions	OMIM:606053
Chromosome 15Q11-Q13 Duplication Syndrome	Restrictive behavior, Unsteady gait, Impaired ability to form peer relationships, Impaired social...	OMIM:608636
Macrothrombocytopenia, Isolated, 2, Autosomal Dominant	Macrothrombocytopenia	OMIM:619840
Hereditary Geniospasm	Abnormal social behavior	ORPHA:53372
Ravine Syndrome	Apnea, Ataxia, Anorexia, Abnormal brainstem morphology, Atrophy/Degeneration affecting the brains...	ORPHA:99852
Bleeding Disorder, Platelet-Type, 9	Thrombocytopenia	OMIM:614200
Immune Thrombocytopenia	Thrombocytopenia	OMIM:188030
Perching Syndrome	Respiratory distress, Cyanosis, Dysphagia	OMIM:617055
Thrombocytopenia 2	Leukocytosis, Thrombocytopenia	OMIM:188000
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Mucus Inspissation Of Respiratory Tract	Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr...	OMIM:253240
Asbestos Intoxication	Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat...	ORPHA:2302
Intellectual Developmental Disorder, Autosomal Recessive 2	Self-injurious behavior, Attention deficit hyperactivity disorder	OMIM:607417
Phosphoserine Aminotransferase Deficiency	Death in infancy, Apnea, Hypertonia, Myoclonus, Cyanotic episode	OMIM:610992
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:254210
Intellectual Developmental Disorder, Autosomal Recessive 37	Hyperactivity, Bruxism, Aggressive behavior	OMIM:615493
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy, Abnormal repetitive mannerisms, Hypsarrhythmia	OMIM:616341
Amegakaryocytic Thrombocytopenia, Congenital, 1	Amegakaryocytic thrombocytopenia, Pancytopenia, Thrombocytopenia	OMIM:604498
Thrombocytopenia 4	Abnormal platelet volume, Thrombocytopenia	OMIM:612004
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:613869
Hemangioma-Thrombocytopenia Syndrome	Hyperkalemia, Microangiopathic hemolytic anemia, Thrombocytopenia	OMIM:141000
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Right ve...	ORPHA:70589
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Impaired oropharyngeal swallow ...	ORPHA:2004
Smith-Magenis syndrome	Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation	DECIPHER:8
Seizures, Benign Familial Infantile, 3	Normal interictal EEG, Cyanosis, Apnea	OMIM:607745
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Ciliary Dyskinesia, Primary, 29	Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili...	OMIM:615872
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Ciliary Dyskinesia, Primary, 21	Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Decreased nasal nitric oxide, Br...	OMIM:615294
Pulmonary Hypoplasia, Primary	Neonatal death	OMIM:265430
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap...	OMIM:605809
Thrombocytopenia 7	Reduced platelet alpha granules, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Red...	OMIM:619130
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome	Hyperactivity, Bruxism, Aggressive behavior	ORPHA:356996
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Recessive	Inability to walk, Self-injurious behavior, Impaired social interactions, Dystonia, Abnormal repe...	OMIM:617820
Pontocerebellar Hypoplasia Type 4	Central apnea, Respiratory failure requiring assisted ventilation, Olivopontocerebellar hypoplasi...	ORPHA:166063
Intellectual Developmental Disorder With Paroxysmal Dyskinesia Or Seizures	Dystonia, Ataxia, Aggressive behavior, Falls, Inappropriate laughter, Bruxism, Abnormal repetitiv...	OMIM:619150
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Seizures, Benign Familial Infantile, 1	Normal interictal EEG, Cyanosis, Apnea	OMIM:601764
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Abnormal hemoglobin, Splenomegaly, Thrombocytopenia, Abnormal platelet function, Anemia	ORPHA:231393
Infant Acute Respiratory Distress Syndrome	Tachycardia, Cyanosis, Pneumonia, Cardiac arrest, Respiratory tract infection, Atelectasis, Nasal...	ORPHA:70587
Classic Glucose Transporter Type 1 Deficiency Syndrome	Central apnea, Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myo...	ORPHA:71277
Meconium Aspiration Syndrome	Respiratory distress, Abnormal pulmonary thoracic imaging finding, Neonatal asphyxia, Wheezing, P...	ORPHA:70588
Hernia, Anterior Diaphragmatic	Neonatal death	OMIM:306950
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Ciliary Dyskinesia, Primary, 33	Atelectasis, Recurrent pneumonia, Bronchiectasis, Chronic rhinitis, Cough, Recurrent lower respir...	OMIM:616726
Pick Disease Of Brain	Polyphagia, Irritability, Disinhibition, Inappropriate laughter, Emotional blunting, Abnormal rep...	OMIM:172700
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas...	OMIM:619466
Acute Interstitial Pneumonia	Cyanosis, Peribronchovascular interstitial thickening, Crackles, Nodular pattern on pulmonary HRC...	ORPHA:79126
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Anorexia, Nonproductive cough, ...	ORPHA:1302
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Anorexia, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ground-glass opacification, Dys...	OMIM:265120
Intellectual Developmental Disorder, Autosomal Recessive 6	Impaired social interactions	OMIM:611092
Intellectual Developmental Disorder, X-Linked 77	Hyperactivity	OMIM:300454
Intellectual Developmental Disorder, X-Linked 72	Hyperactivity, Abnormal repetitive mannerisms	OMIM:300271
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome	Self-injurious behavior, Stereotypical hand wringing, Impaired social interactions	ORPHA:397933
Female Restricted Epilepsy With Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal eating behavior, Compulsive behaviors, ...	ORPHA:101039
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough	OMIM:263000
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Apnea, Crazy paving pattern, Nodular pattern on pulmonary HRCT, Tachypnea, ...	OMIM:610921
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte...	OMIM:619751
Joubert Syndrome 33	Oculomotor apraxia, Apnea, Molar tooth sign on MRI, Ataxia	OMIM:617767
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness	Atelectasis, Chronic sinusitis, Recurrent bronchitis	OMIM:300455
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Bleeding Disorder, Platelet-Type, 15	Thrombocytopenia, Platelet anisocytosis, Increased mean platelet volume	OMIM:615193
Bleeding Disorder, Platelet-Type, 16	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Platelet anisocytosis, Impaired platele...	OMIM:187800
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Neonatal respiratory distress, Dyspnea, Atelectasis, Tachypnea, Pulmonary e...	OMIM:267450
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Respiratory insufficiency, Respiratory failure, Hypertonia	OMIM:611722
Myasthenic Syndrome, Congenital, 16	Fatigable weakness, Apnea, Gait disturbance, Periodic paralysis	OMIM:614198
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death	OMIM:226735
Laryngeal Abductor Paralysis	Stridor, Cyanosis, Dysphagia	OMIM:150260
Pseudo-Von Willebrand Disease	Intermittent thrombocytopenia	OMIM:177820
Atypical Rett Syndrome	Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Involuntary movements, Impaired ...	ORPHA:3095
Autism, Susceptibility To, 3	Restrictive behavior, Abnormal repetitive mannerisms, Impaired ability to form peer relationships...	OMIM:608049
Intellectual Developmental Disorder, Autosomal Dominant 33	Hyperactivity	OMIM:616311
Beemer Lethal Malformation Syndrome	Thrombocytopenia	OMIM:209970
Idiopathic Chronic Eosinophilic Pneumonia	Abnormal pulmonary thoracic imaging finding, Crackles, Dyspnea, Nonproductive cough, Wheezing, As...	ORPHA:2902
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ...	OMIM:610978
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Succinic Acidemia	Respiratory distress	OMIM:600335
Spinocerebellar Ataxia 40	Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch...	OMIM:616053
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7	Restlessness, Aggressive behavior, Inappropriate behavior, Disinhibition, Gait disturbance, Dysto...	OMIM:600795
Pyknoachondrogenesis	Stillbirth	OMIM:265880
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Macrothrombocytopenia, Isolated, 1, Autosomal Dominant	Impaired platelet aggregation, Macrothrombocytopenia	OMIM:613112
Intellectual Developmental Disorder, X-Linked 109	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	OMIM:309548
Behavioral Variant Of Frontotemporal Dementia	Restrictive behavior, Collectionism, Restlessness, Aggressive behavior, Irritability, Inappropria...	ORPHA:275864
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome	Restlessness, Ataxia, Abnormal brainstem MRI signal intensity, Spastic tetraplegia, Respiratory i...	ORPHA:263410
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia	Hyperactivity, Tremor, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive m...	OMIM:618718
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Respiratory failure, Atrophy/Degeneration affecting the brainstem, Spast...	OMIM:616277
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Dysphagia, Cough, Pleural ...	ORPHA:50251
Fraxe Intellectual Disability	Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv...	ORPHA:100973
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect...	OMIM:610913
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies	Self-injurious behavior, Hyperactivity, Aggressive behavior	OMIM:619031
Deafness, Autosomal Dominant 1, With Or Without Thrombocytopenia	Impaired platelet aggregation, Macrothrombocytopenia, Thrombocytopenia	OMIM:124900
Platelet Glycoprotein Iv Deficiency	Giant platelets, Thrombocytopenia	OMIM:608404
Familial Nasal Acilia	Respiratory distress, Dyspnea, Atelectasis, Recurrent upper respiratory tract infections, Bronchi...	ORPHA:922
Autism, Susceptibility To, X-Linked 3	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300496
Autism, Susceptibility To, X-Linked 1	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300425
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:301008
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Choking episodes, Tracheomalacia, Chron...	ORPHA:137914
Monosomy 7 Myelodysplasia And Leukemia Syndrome 1	Acute myeloid leukemia, Increased mean corpuscular volume, Thrombocytopenia	OMIM:252270
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Central apnea, Resting tremor, Incoordination, Ataxia, Aggressive behavior, Tremor, Paraparesis, ...	OMIM:615157
Myoclonus, Intractable, Neonatal	Apnea, Chorea, Athetosis, Myoclonus, Dysphagia, Impaired oral bolus formation	OMIM:617235
Radio-Ulnar Synostosis-Amegakaryocytic Thrombocytopenia Syndrome	Amegakaryocytic thrombocytopenia	ORPHA:71289
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Limb myoclonus, Apnea, Clonus	ORPHA:1949
Intellectual Developmental Disorder, Autosomal Dominant 50, With Behavioral Abnormalities	Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:617787
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Dysphagia, Cough	ORPHA:77260
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Joubert Syndrome 7	Central apnea, Ataxia, Episodic tachypnea, Brainstem dysplasia, Tachypnea, Hypoplasia of the brai...	OMIM:611560
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency	Polyphagia, Impaired social interactions, Aggressive behavior	ORPHA:329249
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Auditory Neuropathy, Autosomal Dominant 1	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:609129
Ceroid Lipofuscinosis, Neuronal, 10	Ataxia, Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Neonatal death, Spasticity	OMIM:610127
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Cyanosis	ORPHA:91130
Primary Dystonia, Dyt13 Type	Torticollis, Generalized dystonia, Postural tremor, Dystonia, Torsion dystonia, Focal dystonia, L...	ORPHA:98807
Sudden Infant Death Syndrome	Apneic episodes in infancy	OMIM:272120
Spinocerebellar Ataxia 38	Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus, Atrophy/Degeneration affecting the brainstem	OMIM:615957
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B	Neonatal death, Apnea	OMIM:615228
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Hyperlysinemia, Type I	Short attention span, Hyperactivity, Cognitive impairment	OMIM:238700
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Eosinophilia, Familial	Anemia, Leukocytosis, Eosinophilia, Thrombocytopenia	OMIM:131400
Deafness, Autosomal Recessive 9	Absent brainstem auditory responses, Sensorineural hearing impairment	OMIM:601071
Foxg1 Syndrome	Dystonia, Inability to walk, Choreoathetosis, Impaired social interactions, Bruxism, Difficulty w...	ORPHA:561854
Dk Phocomelia Syndrome	Thrombocytopenia	OMIM:223340
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures	Abnormal repetitive mannerisms, Emotional lability, Agitation, Aggressive behavior	OMIM:617171
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension	Thrombocytopenia	OMIM:166990
Kleine-Levin Syndrome	Confusion, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexualit...	ORPHA:33543
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Bleeding Disorder, Platelet-Type, 24	Increased mean platelet volume, Thrombocytopenia, Impaired ADP-induced platelet aggregation, Plat...	OMIM:619271
Bilateral Parasagittal Parieto-Occipital Polymicrogyria	Abnormal fear-induced behavior, Pseudobulbar paralysis, Delirium, Aggressive behavior	ORPHA:208441
Mitochondrial Complex I Deficiency, Nuclear Type 10	Broad-based gait, Ataxia, Apnea, Central hypoventilation, Dysmetria, Respiratory failure, Dysphagia	OMIM:618233
Butyrylcholinesterase Deficiency	Apnea	OMIM:617936
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Thrombophilia Due To Protein C Deficiency, Autosomal Dominant	Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:176860
Erythroleukemia, Familial, Susceptibility To	Acute myeloid leukemia, Splenomegaly, Anemia, Erythroid hyperplasia, Leukemia, Thrombocytopenia	OMIM:133180
Platelet Signal Processing Defect	Impaired collagen-induced platelet aggregation, Impaired ADP-induced platelet aggregation, Thromb...	OMIM:173590
Hypokalemic Periodic Paralysis, Type 2	Hypokalemia	OMIM:613345
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Deafness, Autosomal Recessive 104	Absent brainstem auditory responses, Prelingual sensorineural hearing impairment	OMIM:616515
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Bleeding Disorder, Platelet-Type, 19	Thrombocytopenia, Macrothrombocytopenia, Anemia	OMIM:616176
Severe Intellectual Disability And Progressive Spastic Paraplegia	Waddling gait, Shyness, Overweight, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	ORPHA:280763
N-Acetylaspartate Deficiency	Broad-based gait, Unsteady gait, Truncal ataxia, Decreased body weight, Abnormal repetitive manne...	OMIM:614063
Pulmonary Alveolar Proteinosis, Acquired	Recurrent respiratory infections, Cyanosis, Lung abscess, Pneumonia, Dyspnea, Intraalveolar phosp...	OMIM:610910
Tracheobronchopathia Osteochondroplastica	Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,...	ORPHA:3348
Hsd10 Disease	Ataxia, Tremor, Choreoathetosis, Gait disturbance, Dysphagia, Abnormal social behavior	ORPHA:391417
Pontocerebellar Hypoplasia Type 2	Apnea, Oral-pharyngeal dysphagia, Babinski sign, Choreoathetosis, Hypoplasia of the ventral pons,...	ORPHA:2524
Pontocerebellar Hypoplasia, Type 16	Apnea, Hypoplasia of the pons, Spastic tetraplegia, Abnormality of extrapyramidal motor function,...	OMIM:619527
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Mohr-Tranebjaerg Syndrome	Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, S...	ORPHA:52368
Hyperaldosteronism, Familial, Type Ii	Hypokalemia	OMIM:605635
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,...	ORPHA:90117
Bronchogenic Cyst	Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleura morpholog...	ORPHA:2357
Mitochondrial Complex I Deficiency, Nuclear Type 4	Apnea, Ataxia, Myoclonus, Death in childhood, Spasticity	OMIM:618225
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Abnormal motor nerve conduction velocity, Respiratory insufficiency, Restri...	OMIM:614399
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Resting tremor, Restlessness, Apnea, Parkinsonism, Ataxia, Tremor, Babinski sign, Spastic paraple...	OMIM:300055
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Pulmonary Capillary Hemangiomatosis	Cyanosis, Pulmonary edema, Right ventricular failure, Diffuse alveolar hemorrhage, Dyspnea, Hemot...	ORPHA:199241
Benign Familial Infantile Epilepsy	Hypertonia, Limb myoclonus, Cyanosis, Apnea	ORPHA:306
Epilepsy, Progressive Myoclonic, 8	Atrophy/Degeneration affecting the brainstem, Limb ataxia, Choreoathetosis, Gait disturbance, Myo...	OMIM:616230
Benign Familial Neonatal-Infantile Seizures	Episodic ataxia, Slurred speech, Apnea	ORPHA:140927
Pontocerebellar Hypoplasia, Type 6	Appendicular spasticity, Lower limb spasticity, Apnea, Atrophy/Degeneration affecting the brainst...	OMIM:611523
Pulmonary Venoocclusive Disease 1, Autosomal Dominant	Pulmonary venous occlusion, Abnormally loud pulmonic component of the second heart sound, Centril...	OMIM:265450
Severe Neonatal-Onset Encephalopathy With Microcephaly	Spasticity, Apnea, Involuntary movements, Respiratory insufficiency	ORPHA:209370
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy	Broad-based gait, Hand tremor, Gait ataxia, Dysphagia, Atrophy/Degeneration affecting the brainst...	OMIM:617862
Roch-Leri Mesosomatous Lipomatosis	Thrombocytopenia	ORPHA:529
Plectin-Related Limb-Girdle Muscular Dystrophy R17	Atelectasis, Right bundle branch block, Pulmonary fibrosis, Dysphagia, Bronchiolitis, Exertional ...	ORPHA:254361
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type	Hyperactivity, Inflexible adherence to routines	OMIM:301076
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Childhood Disintegrative Disorder	Abnormal repetitive mannerisms, Abnormal emotion, Impaired social interactions	ORPHA:168782
C1Q Deficiency 2	Atelectasis, Bronchiectasis, Facial erythema, Vasculitis in the skin, Recurrent lower respiratory...	OMIM:620321
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Central apnea, Spastic paraplegia, Dysmetria, Gait ataxia, Spastic gait	OMIM:615031
11Q22.2Q22.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal social behavior, Obesity, Compulsive behaviors	ORPHA:444002
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
Spinocerebellar Ataxia Type 1	Postural tremor, Dysphagia, Chorea, Impaired proprioception, Slurred speech, Dysmetria, Abnormal ...	ORPHA:98755
Hartnup Disorder	Emotional lability, Hyperactivity, Attention deficit hyperactivity disorder	OMIM:234500
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress, Peripheral axonal neuropathy	OMIM:619099
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract	Spasticity, Apneic episodes in infancy, Stereotypical hand wringing	ORPHA:500545
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2	Tachypnea, Polyphagia	OMIM:620085
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Failure to thrive in infancy, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive b...	OMIM:613670
Neurodevelopmental Disorder With Microcephaly And Gray Sclerae	Impaired social interactions	OMIM:617051
Developmental And Epileptic Encephalopathy 104	Self-injurious behavior, Hyperactivity, Agitation	OMIM:619970
Developmental And Epileptic Encephalopathy 61	Loss of ambulation, Spasticity, Apnea	OMIM:617933
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Respiratory failure requiring assisted ventilation, Death in infancy, Respiratory insufficiency, ...	OMIM:620265
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis	OMIM:257500
Giant platelet syndrome with thrombocytopenia	Giant platelets, Thrombocytopenia	OMIM:137560
Autoimmune Interstitial Lung, Joint, And Kidney Disease	Dyspnea, Tachypnea, Restrictive ventilatory defect, Cough, Decreased DLCO	OMIM:616414
Intellectual Developmental Disorder, Autosomal Recessive 58	Aggressive behavior, Pica, Choreoathetosis, Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:617270
Folinic Acid-Responsive Seizures	Respiratory distress, Broad-based gait, Apnea, Ataxia, Spastic tetraparesis, Chorea, Hypertonia, ...	ORPHA:79097
Intellectual Developmental Disorder, Autosomal Recessive 54	Emotional lability, Attention deficit hyperactivity disorder	OMIM:617028
Cdkl5-Deficiency Disorder	Gait disturbance, Inappropriate laughter, Difficulty walking, Bruxism, Stereotypical hand wringing	ORPHA:505652
Joubert Syndrome 9	Oculomotor apraxia, Molar tooth sign on MRI, Apnea, Episodic tachypnea	OMIM:612285
Gand Syndrome	Hyperactivity, Tics, Inappropriate laughter	OMIM:615074
Preeclampsia/Eclampsia 1	Thrombocytopenia	OMIM:189800
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Restrictive ventilatory defect, Respiratory failure,...	ORPHA:98913
Intellectual Developmental Disorder, Autosomal Dominant 7	Hyperactivity, Ataxia, Small for gestational age, Failure to thrive in infancy, Gait disturbance,...	OMIM:614104
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cyanosis, Apnea, Ataxia, Impulsivity, Aggressive behavior, Inability to walk, Tongue thrusting, O...	OMIM:619580
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Hypoplasia of the pons, Respiratory failure, Hypertonia, Hypoplasia of the brai...	OMIM:225753
Leukodystrophy, Hypomyelinating, 4	Apnea, Head titubation, Babinski sign, Spastic paraplegia, Choreoathetosis, Progressive spasticity	OMIM:612233
Myasthenic Syndrome, Congenital, 24, Presynaptic	Oculomotor apraxia, Apnea, Respiratory insufficiency, Dysphagia	OMIM:618198
Thyroid Lymphoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Dysphagia	ORPHA:97285
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure, Addictive al...	ORPHA:178320
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Charcot-Marie-Tooth Disease, Type 4B1	Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials	OMIM:601382
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome	Ground-glass opacification, Respiratory tract infection, Nonproductive cough, Dyspnea, Chronic pu...	ORPHA:79127
N-Acetylglutamate Synthase Deficiency	Respiratory distress, Aggressive behavior	OMIM:237310
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Congenital Amegakaryocytic Thrombocytopenia	Thrombocytopenia, Abnormal hemoglobin, Anemia	ORPHA:3319
Lennox-Gastaut Syndrome	Hyperactivity, Aggressive behavior, Abnormal brainstem morphology, Falls, Myoclonus	ORPHA:2382
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Neutropenia, Lethal Congenital, With Eosinophilia	Neonatal death	OMIM:257100
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Juvenile Neuronal Ceroid Lipofuscinosis	Apnea, Parkinsonism, Episodic tachypnea, Poor motor coordination, Dysphagia, Clumsiness, Poor fin...	ORPHA:79264
Malaria	Anemia, Elevated circulating C-reactive protein concentration, Hyperbilirubinemia, Thrombocytopenia	ORPHA:673
Surfactant Metabolism Dysfunction, Pulmonary, 4	Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric...	OMIM:300770
Hereditary Central Diabetes Insipidus	Irritability, Polydipsia	ORPHA:30925
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly	Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri...	OMIM:619827
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Christianson Syndrome	Dystonia, Cachexia, Truncal ataxia, Gait ataxia, Inappropriate laughter, Dysphagia, Abnormal repe...	ORPHA:85278
Glycine Encephalopathy 1	Restlessness, Hyperactivity, Impulsivity, Aggressive behavior, Irritability	OMIM:605899
Joubert Syndrome 20	Aggressive behavior, Inability to walk, Self-mutilation, Respiratory insufficiency, Oculomotor ap...	OMIM:614970
Familial Pseudohyperkalemia	Reticulocytosis, Hyperkalemia, Stomatocytosis, Increased mean corpuscular volume, Episodic hemoly...	ORPHA:90044
Developmental And Epileptic Encephalopathy 43	Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder	OMIM:617113
Spinocerebellar Ataxia, Autosomal Recessive 32	Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Bradykinesia...	OMIM:619862
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome	Attention deficit hyperactivity disorder, Ataxia, Impaired social interactions, Intention tremor	ORPHA:137831
Parkinsonism-Dystonia 3, Childhood-Onset	Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Impaired social interactions, Dysphagi...	OMIM:619738
Bone Marrow Failure Syndrome 2	Leukopenia, Thrombocytopenia, Anemia	OMIM:615715
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress, Neuromuscular dysphagia	ORPHA:240085
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormal repetitive mannerisms, Ataxia, Attention deficit hyperactivity disorder	OMIM:618709
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Aggressive behavior, Tremor, Abnormal repetitive mannerisms	OMIM:619470
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Central apnea, Dysmetria, Gait ataxia	ORPHA:320385
Chromosome 3Q29 Deletion Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Gait ataxia, Failure to thrive, Ab...	OMIM:609425
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent	Hypertonia, Apnea, Myoclonus, Respiratory insufficiency	OMIM:617290
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant	Dystonia, Oculogyric crisis, Inability to walk, Self-injurious behavior, Inappropriate laughter, ...	OMIM:614254
X-Linked Intellectual Disability, Van Esch Type	Hypergonadotropic hypogonadism, Cryptorchidism, Retractile testis, Attention deficit hyperactivit...	ORPHA:163976
Thrombocytopenia With Beta-Thalassemia, X-Linked	Hemolytic anemia, Reticulocytosis, Increased RBC distribution width, Reduced platelet alpha granu...	OMIM:314050
Waardenburg Syndrome Type 3	Tracheomalacia, Atelectasis, Acrocyanosis	ORPHA:896
Nipah Virus Disease	Respiratory distress, Anorexia, Cough	ORPHA:99825
Joubert Syndrome 30	Molar tooth sign on MRI, Tachypnea, Apnea	OMIM:617622
Mitochondrial Complex I Deficiency, Nuclear Type 5	Ataxia, Apnea, Babinski sign, Respiratory insufficiency, Dysphagia	OMIM:618226
Acute Myelomonocytic Leukemia	Thrombocytopenia, Leukocytosis, Eosinophilia, Anemia	ORPHA:517
Emphysema, Hereditary Pulmonary	Emphysema, Chronic pulmonary obstruction, Chronic bronchitis	OMIM:130700
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations	Apnea, Central hypoventilation, Rigidity, Respiratory insufficiency, Myoclonus	OMIM:300673
Hereditary Thrombophilia Due To Congenital Antithrombin Deficiency	Miscarriage, Pulmonary embolism	ORPHA:82
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Pitt-Hopkins-Like Syndrome 1	Hyperactivity, Ataxia, Aggressive behavior, Impaired social interactions, Attention deficit hyper...	OMIM:610042
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness	Absent brainstem auditory responses, Facial palsy, Sensorineural hearing impairment, Choreoatheto...	OMIM:617519
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m...	OMIM:300580
Nemaline Myopathy 2	Waddling gait, Apnea, Respiratory insufficiency due to muscle weakness, Inability to walk, Steppa...	OMIM:256030
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills	Apnea, Gait disturbance, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation	OMIM:617903
Hyperchlorhidrosis, Isolated	Hyponatremia, Hyperkalemia	OMIM:143860
Pulmonary Arteriovenous Malformation	Abnormal bleeding, Cyanosis, Transient ischemic attack, Epistaxis, Myocardial infarction, Dyspnea...	ORPHA:2038
Bleeding Disorder, Platelet-Type, 20	Thrombocytopenia	OMIM:616913
Von Willebrand Disease, Type 2	Thrombocytopenia	OMIM:613554
Hereditary Methemoglobinemia	Cyanosis, Spastic tetraplegia, Athetosis, Hypertonia, Spasticity, Exertional dyspnea	ORPHA:621
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Pulmonary Venoocclusive Disease 2, Autosomal Recessive	Pulmonary venous occlusion, Dyspnea, Pulmonary capillary hemangiomatosis, Centrilobular ground-gl...	OMIM:234810
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Angioedema, Erythema, Upper airway obstruction, Urticaria	ORPHA:100057
Mitochondrial Complex I Deficiency, Nuclear Type 6	Ataxia, Apnea, Abnormal pyramidal sign, Respiratory insufficiency	OMIM:618228
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy	Hyponatremia, Hypokalemia, Hypocalcemia, Hypomagnesemia	OMIM:620152
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Recurrent hand flapping, Inappropriate laughter	OMIM:618859
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Lamb-Shaffer Syndrome	Hyperactivity, Ataxia, Abnormal temper tantrums, Abnormal social behavior, Abnormal repetitive ma...	ORPHA:530983
Renal Glucosuria	Polydipsia, Polyphagia	OMIM:233100
Niemann-Pick Disease, Type B	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Thrombocyt...	OMIM:607616
Ethylmalonic Encephalopathy	Ataxia, Abnormal brainstem MRI signal intensity, Abnormal pyramidal sign, Abnormality of extrapyr...	ORPHA:51188
2Q23.1 Microdeletion Syndrome	Hyperactivity, Ataxia, Cryptorchidism, Polyphagia, Self-injurious behavior, Abnormal repetitive m...	ORPHA:228402
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Tricuspid regurgitation, Crackles, Ground-glass opacification, Dyspnea, Asthma, Wheezing, Atelect...	OMIM:620233
Autosomal Recessive Spastic Paraplegia Type 44	Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairment, Difficulty walking...	ORPHA:320401
Joubert Syndrome 3	Central apnea, Ataxia, Episodic tachypnea, Oculomotor apraxia, Elongated superior cerebellar pedu...	OMIM:608629
Thrombocytopenia, Anemia, And Myelofibrosis	Anemia, Splenomegaly, Anisopoikilocytosis, Thrombocytopenia	OMIM:617441
Mitochondrial Complex I Deficiency, Nuclear Type 13	Death in infancy, Spasticity, Apnea	OMIM:618235
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Impaired social interactions, Aggressive behavior	OMIM:616083
Symptomatic Form Of Fragile X Syndrome In Female Carriers	Hyperactivity, Shyness, Aggressive behavior, Depression, Self-injurious behavior, Irritability, I...	ORPHA:449291
Joubert Syndrome 23	Tachypnea, Apnea	OMIM:616490
Neutropenia, Severe Congenital, 5, Autosomal Recessive	Extramedullary hematopoiesis, Splenomegaly, Thrombocytopenia, Leukopenia, Neutropenia, Anemia	OMIM:615285
Gray Platelet Syndrome	Splenomegaly, Abnormality of thrombocytes, Thrombocytopenia	ORPHA:721
Developmental Delay, Behavioral Abnormalities, And Neuropsychiatric Disorders	Overweight, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620065
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Hyperprolinemia, Type I	Abnormal repetitive mannerisms, Hyperactivity, Ataxia, Aggressive behavior	OMIM:239500
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal	Death in infancy, Apnea, Clonus, Rigidity, Babinski sign, Hypertonia, Myoclonic spasms, Limb hype...	OMIM:614498
Monosodium Glutamate Sensitivity	Dyspnea, Flushing	OMIM:231630
Autosomal Dominant Spastic Paraplegia Type 36	Lower limb spasticity, Impaired temperature sensation, Impaired distal proprioception, Abnormal b...	ORPHA:320365
Wiskott-Aldrich Syndrome 2	Decreased proportion of CD8-positive T cells, Thrombocytopenia	OMIM:614493
Refractory Anemia	Normocytic anemia, Macrocytic anemia, Anemia of inadequate production, Erythroid hypoplasia, Norm...	ORPHA:98826
Neurodevelopmental Disorder With Epilepsy, Cataracts, Feeding Difficulties, And Delayed Brain Myelination	Irritability, Failure to thrive, Abnormal repetitive mannerisms, Difficulty walking	OMIM:617393
Type 1 Diabetes Mellitus	Polydipsia, Polyphagia	OMIM:222100
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Dysphagia, Stridor, Cough	ORPHA:142
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Hypertonia, Cyanosis, Opisthotonus, Exertional dyspnea	OMIM:250800
Antithrombin Iii Deficiency	Arterial occlusion, Pulmonary embolism	OMIM:613118
Fanconi Anemia, Complementation Group G	Thrombocytopenia, Leukemia, Anemia, Neutropenia	OMIM:614082
Rett Syndrome	Apnea, Intermittent hyperventilation, Gait apraxia, Bruxism, Gait ataxia, Truncal ataxia, Spastic...	OMIM:312750
Syngap1-Related Developmental And Epileptic Encephalopathy	Ataxia, Abnormal eating behavior, Tremor, Obsessive-compulsive trait, Gait disturbance, Impaired ...	ORPHA:544254
Alpha-Thalassemia-Myelodysplastic Syndrome	Microcytic anemia, Splenomegaly, Acute leukemia, Neutropenia, HbH hemoglobin, Thrombocytopenia	ORPHA:231401
Intellectual Developmental Disorder, Autosomal Dominant 67	Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder	OMIM:619927
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Hypokalemic Alkalosis, Familial, With Specific Renal Tubulopathy	Hypokalemia, Increased serum prostaglandin E2, Increased circulating renin level, Abnormal magnes...	OMIM:241150
Childhood Absence Epilepsy	Abnormal social behavior, Punding, Attention deficit hyperactivity disorder	ORPHA:64280
Spastic Paraplegia 47, Autosomal Recessive	Waddling gait, Shyness, Overweight, Inability to walk, Dystonia	OMIM:614066
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Atelectasis, Neonatal death, Death in infancy	OMIM:300219
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness, Dysphagia	OMIM:613561
Orofaciodigital Syndrome Xvi	Apnea, Ataxia, Inability to walk, Oculomotor apraxia, Molar tooth sign on MRI	OMIM:617563
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Fatigable we...	ORPHA:596
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Cyanosis, Hypoxemia	ORPHA:464453
Heparin-Induced Thrombocytopenia	Abnormal onset of bleeding, Cerebral ischemia, Myocardial infarction, Pulmonary embolism	ORPHA:3325
Pulmonary Alveolar Microlithiasis	Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in...	ORPHA:60025
Galloway-Mowat Syndrome 6	Abnormal repetitive mannerisms, Paroxysmal bursts of laughter, Decreased body weight	OMIM:618347
Intellectual Developmental Disorder, X-Linked 111	Hyperactivity, Phonic tics, Compulsive behaviors, Aggressive behavior	OMIM:301107
Macrothrombocytopenia And Granulocyte Inclusions With Or Without Nephritis Or Sensorineural Hearing Loss	Leukocyte inclusion bodies, Impaired ADP-induced platelet aggregation, Macrothrombocytopenia, Gia...	OMIM:155100
Thrombophilia Due To Protein S Deficiency, Autosomal Dominant	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	OMIM:612336
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hemopha...	OMIM:603552
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Hyperactivity, Impulsivity, Aggressive behavior, Pachygyria, Simplified gyral pattern, Abnormalit...	OMIM:604317
Sea-Blue Histiocyte Disease	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	OMIM:269600
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Exaggerated startle response, Apnea, Tremor, Truncal titubation, Dysmetria, Gait ataxia, Hyperton...	OMIM:618056
Polycythemia Vera	Splenomegaly, Leukocytosis, Increased hemoglobin, Increased red blood cell mass, Increased hemato...	OMIM:263300
Fanconi Anemia, Complementation Group V	Anemia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Neutropenia	OMIM:617243
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy	Ataxia, Atrophy/Degeneration affecting the brainstem, Spastic tetraplegia, Myoclonus, Attention d...	OMIM:619971
Gm2 Gangliosidosis, Ab Variant	Abnormal fear-induced behavior, Exaggerated startle response, Inappropriate behavior, Dystonia	ORPHA:309246
Spinocerebellar Ataxia Type 29	Ataxia, Delayed early-childhood social milestone development, Dysmetria, Gait ataxia, Dysdiadocho...	ORPHA:208513
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Ataxia, H...	OMIM:618426
Developmental And Epileptic Encephalopathy 58	Inability to walk, Abnormal repetitive mannerisms	OMIM:617830
Primary Ciliary Dyskinesia	Recurrent sinopulmonary infections, Neonatal respiratory distress, Peribronchovascular interstiti...	ORPHA:244
Hyperekplexia 3	Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Respiratory arrest	OMIM:614618
Fetal Parvovirus Syndrome	Thrombocytopenia, Anemia	ORPHA:295
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Early-Onset Autosomal Dominant Alzheimer Disease	Abnormal social behavior, Agitation, Disinhibition	ORPHA:1020
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Broad-based gait, Ataxia, Clonus, Unsteady gait, Abnormal pyramidal sign, Babinski sign, Respirat...	OMIM:616479
Myotonia Fluctuans	Apnea, Stridor, Spasticity of facial muscles, Gait disturbance, Choking episodes	ORPHA:99734
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Gait disturbance, Progressive sensori...	OMIM:125250
Late-Infantile/Juvenile Krabbe Disease	Prolonged brainstem auditory evoked potentials, Ataxia, Tremor, Decreased nerve conduction veloci...	ORPHA:206443
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Nephrotic Syndrome, Type 7	Hemolytic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:615008
Gómez-López-Hernández Syndrome	Ataxia, Abnormal brainstem morphology, Impaired pain sensation	ORPHA:1532
Bilateral Striopallidodentate Calcinosis	Thrombocytopenia	ORPHA:1980
Congenital Myopathy 11	Waddling gait, Neonatal respiratory distress, Apneic episodes in infancy	OMIM:619967
Myasthenic Syndrome, Congenital, 20, Presynaptic	Hypoventilation, Apnea, Stridor, Fatigable weakness, Dysphagia	OMIM:617143
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Pontocerebellar Hypoplasia, Type 7	Apnea, Ataxia, Hypoplasia of the pons, Spastic paraplegia, Opisthotonus, Choreoathetosis, Hypopla...	OMIM:614969
Presynaptic Congenital Myasthenic Syndromes	Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu...	ORPHA:98914
Congenital Myasthenic Syndrome	Waddling gait, Cyanosis, Sudden episodic apnea, Ataxia, Intermittent episodes of respiratory insu...	ORPHA:590
Congenital Disorder Of Glycosylation, Type Ij	Apnea, Aggressive behavior, Tremor, Jaundice, Respiratory insufficiency, Hypertonia	OMIM:608093
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Tongue fasc...	OMIM:608800
Mannosidosis, Beta A, Lysosomal	Hyperactivity, Aggressive behavior	OMIM:248510
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crazy paving pattern, Crackles, Dyspnea, Intraalveolar phospholipid accumulation, Hypox...	ORPHA:747
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)	Hypertonia, Apnea, Opisthotonus	OMIM:616896
Chronic Myeloid Leukemia	Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo...	ORPHA:521
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Apneic episodes in infancy, Abnormal brainstem morphology, Episodic tachypnea, Dysphagia	ORPHA:163961
Congenital Heart Block	Cyanosis, First degree atrioventricular block, Crackles, Gallop rhythm, Congestive heart failure,...	ORPHA:60041
Liddle Syndrome 2	Hypokalemia, Decreased circulating renin level	OMIM:618114
Liddle Syndrome 3	Hypokalemia, Decreased circulating renin level	OMIM:618126
Hyperekplexia 1	Exaggerated startle response, Apnea, Hypertonia, Myoclonus, Aspiration, Frequent falls	OMIM:149400
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Infantile Neuroaxonal Dystrophy	Hyperactivity, Ataxia, Spastic tetraparesis, Impulsivity, Unsteady gait, Abnormal pyramidal sign,...	ORPHA:35069
Pyruvate Dehydrogenase E1-Alpha Deficiency	Tremor, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetosis, Respiratory fa...	OMIM:312170
Acquired Idiopathic Sideroblastic Anemia	Normocytic anemia, Acute myeloid leukemia, Pancytopenia, Anemia of inadequate production, Splenom...	ORPHA:75564
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Developmental And Epileptic Encephalopathy 99	Central apnea, Atrophy/Degeneration affecting the brainstem, Eyelid myoclonus	OMIM:619606
Congenital Neuronal Ceroid Lipofuscinosis	Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity	ORPHA:168486
Central Diabetes Insipidus	Polydipsia, Anorexia, Depression	ORPHA:178029
Developmental And Epileptic Encephalopathy 107	Abnormal repetitive mannerisms	OMIM:620033
Mitochondrial Complex I Deficiency, Nuclear Type 33	Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Dysphagia, Loss of ambula...	OMIM:618253
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hemolytic anemia, Reticulocytosis, Hepatosplenomegaly, Decreased mean corpuscular volume, Hypokal...	OMIM:611590
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Interstitial Lung Disease 2	Dyspnea, Alveolar cell carcinoma, Elevated bronchoalveolar lavage fluid neutrophil proportion, Pu...	OMIM:178500
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Polyphagia, Inappropriate laughter	ORPHA:411515
Optic Atrophy 8	Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor...	OMIM:616648
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Coach Syndrome 2	Oculomotor apraxia, Apneic episodes in infancy, Molar tooth sign on MRI	OMIM:619111
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology	ORPHA:91412
Fatal Familial Insomnia	Apnea, Myoclonus, Ataxia, Dysphagia	OMIM:600072
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Fatigable weakness of skeletal muscles, Respiratory insufficiency, Difficulty wa...	OMIM:617239
Thrombophilia Due To Thrombomodulin Defect	Pulmonary embolism	OMIM:614486
Glutamine Deficiency, Congenital	Neonatal death, Neonatal respiratory distress, Erythema, Apnea	OMIM:610015
Autism, Susceptibility To, X-Linked 2	Restrictive behavior, Abnormal repetitive mannerisms, Inflexible adherence to routines	OMIM:300495
Breath-Holding Spells	Cyanosis	OMIM:607578
Asplenia, Isolated Congenital	Asplenia, Thrombocytosis, Howell-Jolly bodies	OMIM:271400
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities	Inability to walk, Cryptorchidism, Gait ataxia, Self-injurious behavior, Compulsive behaviors, Dy...	OMIM:618917
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress, Dysphagia	ORPHA:240103
Dravet Syndrome	Incoordination, Parkinsonism, Impulsivity, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine m...	ORPHA:33069
Hypokalemic Periodic Paralysis, Type 1	Hypokalemia	OMIM:170400
Thrombophilia, X-Linked, Due To Factor Viii Defect	Pulmonary embolism	OMIM:301071
Mitochondrial Complex I Deficiency, Nuclear Type 14	Apnea	OMIM:618236
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Chiari Malformation Type Ii	Cyanosis, Ataxia, Opisthotonus, Dysphagia, Inspiratory stridor	OMIM:207950
Thrombocythemia 1	Splenomegaly, Impaired ADP-induced platelet aggregation, Impaired collagen-induced platelet aggre...	OMIM:187950
8p23.1 deletion syndrome	Hyperactivity	DECIPHER:39
Atypical Hemolytic Uremic Syndrome	Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:2134
Encephalopathy, Ethylmalonic	Death in infancy, Ataxia, Babinski sign, Abnormality of extrapyramidal motor function, Acrocyanos...	OMIM:602473
Alternating Hemiplegia Of Childhood	Respiratory distress, Apnea, Ataxia, Anorexia, Oral-pharyngeal dysphagia, Tremor, Rigidity, Chore...	ORPHA:2131
Idiopathic Bronchiectasis	Myocardial infarction, Crackles, Productive cough, Dyspnea, Wheezing, Respiratory tract infection...	ORPHA:60033
Baker-Gordon Syndrome	Ataxia, Inability to walk, Choreoathetosis, Self-injurious behavior, Dystonia, Abnormal repetitiv...	OMIM:618218
Slc35A1-Cdg	Respiratory distress, Pneumonia, Subcutaneous hemorrhage, Hypoxemia	ORPHA:238459
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Hyperactivity, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, Irritability, Abnor...	ORPHA:3077
Aromatic L-Amino Acid Decarboxylase Deficiency	Torticollis, Exaggerated startle response, Apnea, Babinski sign, Tongue thrusting, Limb tremor, C...	OMIM:608643
Atrial Septal Defect, Ostium Secundum Type	Bundle branch block, First degree atrioventricular block, Abnormal left ventricular function, Sup...	ORPHA:99103
Thrombocytopenia With Congenital Dyserythropoietic Anemia	Anisocytosis, Anemia of inadequate production, Macrothrombocytopenia, Poikilocytosis, Hypochromic...	ORPHA:67044
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Hypertriglyceridemia, Splenomegaly, Thrombocytopenia, Increased circulating ferritin concentratio...	OMIM:613101
Methionine Malabsorption Syndrome	Tachypnea	OMIM:250900
Developmental And Epileptic Encephalopathy 90	Ankle clonus, Babinski sign, Apneic episodes in infancy, Limb hypertonia	OMIM:301058
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Abnormal brainstem MRI signal intensity, Stridor, Respiratory failure, Paroxysmal dyspnea	ORPHA:444013
Intellectual Developmental Disorder, X-Linked 101	Hyperactivity	OMIM:300928
Cernunnos-Xlf Deficiency	Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, Thrombocytopenia	ORPHA:169079
Pontocerebellar Hypoplasia, Type 11	Broad-based gait, Ataxia, Inability to walk, Limb ataxia, Self-injurious behavior, Difficulty wal...	OMIM:617695
48,Xxyy Syndrome	Apnea, Ataxia, Tremor, Asthma, Attention deficit hyperactivity disorder, Abnormal repetitive mann...	ORPHA:10
Ataxia-Pancytopenia Syndrome	Pancytopenia, Acute myelomonocytic leukemia, Anemia, Neutropenia, Hypoplastic anemia, Thrombocyto...	OMIM:159550
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Optic atrophy, Cyanosis, Apnea, EEG abnormality	OMIM:261680
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome	Episodic hypokalemia, Hypomagnesemia	ORPHA:564178
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Apnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pa...	ORPHA:220497
Phenylketonuria	Hyperactivity, Aggressive behavior, Depression, Irritability, Attention deficit hyperactivity dis...	OMIM:261600
Thrombocytopenia With Elevated Serum Iga And Renal Disease	Thrombocytopenia	OMIM:314000
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Senior-Loken Syndrome 4	Polydipsia	OMIM:606996
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Ciliary Dyskinesia, Primary, 1	Pneumonia, Atelectasis, Bronchiectasis, Immotile cilia, Chronic rhinitis, Ciliary dyskinesia, Chr...	OMIM:244400
Joubert Syndrome 25	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:616781
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Atrial Septal Defect, Coronary Sinus Type	Bundle branch block, Left-to-right shunt, Abnormally loud pulmonic component of the second heart ...	ORPHA:99104
Moyamoya Disease With Early-Onset Achalasia	Abnormal platelet aggregation, Thrombocytopenia	ORPHA:401945
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Pontocerebellar Hypoplasia Type 10	Spasticity, Hypertonia, Abnormal brainstem morphology	ORPHA:411493
Combined Oxidative Phosphorylation Deficiency 57	Death in infancy, Apnea, Central hypoventilation, Myoclonus, Neonatal death	OMIM:620167
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Sarcoidosis, Susceptibility To, 2	Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi...	OMIM:612387
Atrial Septal Defect, Ostium Primum Type	First degree atrioventricular block, Tachypnea, Atrioventricular block, Fixed splitting of the se...	ORPHA:99106
Cortical Dysplasia, Complex, With Other Brain Malformations 2	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615282
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Pontocerebellar Hypoplasia, Type 15	Thrombocytopenia, Chronic neutropenia, Anemia	OMIM:619302
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Hypersplenism, Splenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	OMIM:610539
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Abnormal repetitive mannerisms, Emotional lability, Disinhibition, Dysphagia	OMIM:612069
Angelman Syndrome Due To A Point Mutation	Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, Obesity, Inappropriate laug...	ORPHA:411511
Complete Atrioventricular Septal Defect	Abnormal EKG, Tachycardia, Left-to-right shunt, Intercostal retractions, Cyanosis, Crackles, Righ...	ORPHA:1329
Mitochondrial Complex I Deficiency, Nuclear Type 2	Apnea, Hypercapnia, Respiratory insufficiency, Ankle clonus, Apneic episodes in infancy, Falls, D...	OMIM:618222
Acquired Central Diabetes Insipidus	Polydipsia	ORPHA:95626
Kcnq2-Related Epileptic Encephalopathy	Inability to walk, Poor gross motor coordination, Apnea, Facial erythema	ORPHA:439218
Gaucher Disease, Type Ii	Death in infancy, Apnea, Rigidity, Dysphagia, Stridor, Hypertonia, Cough, Oculomotor apraxia, Spa...	OMIM:230900
Liddle Syndrome	Hypokalemia	ORPHA:526
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak	Hyperkalemia	OMIM:609153
Transcobalamin Deficiency	Pancytopenia, Lymphopenia, Thrombocytopenia, Neutropenia	ORPHA:859
Hsd10 Disease, Infantile Type	Restlessness, Cyanosis, Spastic tetraparesis, Poor coordination, Spastic diplegia, Choreoathetosi...	ORPHA:391428
Bernard-Soulier Syndrome	Thrombocytopenia, Giant platelets, Macrothrombocytopenia, Impaired ristocetin-induced platelet ag...	OMIM:231200
Spastic Paraplegia 35, Autosomal Recessive, With Or Without Neurodegeneration	Lower limb spasticity, Ataxia, Spastic tetraparesis, Babinski sign, Spastic paraplegia, Dysmetria...	OMIM:612319
Adult Krabbe Disease	Somatic sensory dysfunction, Broad-based gait, Ataxia, Abnormal medulla oblongata morphology, Abn...	ORPHA:206448
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea, Anorexia	ORPHA:79242
Liddle Syndrome 1	Hypokalemia, Decreased circulating renin level	OMIM:177200
Autosomal Recessive Spastic Paraplegia Type 77	Lower limb spasticity, Sudden episodic apnea, Weakness due to upper motor neuron dysfunction, Pro...	ORPHA:466722
Corticosteroid-Binding Globulin Deficiency	Hypokalemia, Anemia	OMIM:611489
Forsythe-Wakeling Syndrome	Thrombocytopenia	OMIM:613606
Lopes-Maciel-Rodan Syndrome	Dystonia, Tremor, Unsteady gait, Bruxism, Agitation, Dysphagia, Abnormal repetitive mannerisms	OMIM:617435
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Pontocerebellar Hypoplasia, Type 14	Chronic neutropenia, Thrombocytopenia	OMIM:619301
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Telangiectasia of the skin, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Abnormal brainstem m...	ORPHA:79279
Renal Tubular Acidosis, Distal, 1	Hypokalemia, Elevated circulating creatinine concentration, Hypocalcemia	OMIM:179800
2Q24 Microdeletion Syndrome	Central apnea	ORPHA:1617
Neurodevelopmental Disorder With Involuntary Movements	Involuntary movements, Chorea, Dysphagia, Athetosis, Self-injurious behavior, Hyperkinetic moveme...	OMIM:617493
Congenital Alpha2-Antiplasmin Deficiency	Abnormal bleeding, Intracranial hemorrhage, Abnormal umbilical stump bleeding, Gingival bleeding,...	ORPHA:79
Young-Onset Parkinson Disease	Restless legs, Impulsivity, Tremor, Depression, Male sexual dysfunction, Agitation, Gait imbalanc...	ORPHA:2828
Cerebral Creatine Deficiency Syndrome 1	Broad-based gait, Dystonia, Aggressive behavior, Gait disturbance, Impaired social interactions, ...	OMIM:300352
Joubert Syndrome 1	Central apnea, Hemifacial spasm, Hyperactivity, Ataxia, Episodic tachypnea, Brainstem dysplasia, ...	OMIM:213300
Landau-Kleffner Syndrome	Short attention span, Hyperactivity, Impulsivity, Aggressive behavior, Depression, Memory impairm...	ORPHA:98818
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Autism Spectrum Disorder Due To Auts2 Deficiency	Hyperactivity, Small for gestational age, Repetitive compulsive behavior, Cryptorchidism, Compuls...	ORPHA:352490
Thrombophilia Due To Thrombin Defect	Pulmonary embolism	OMIM:188050
Buerger Disease	Acrocyanosis, Paresthesia	ORPHA:36258
Familial Acute Necrotizing Encephalopathy	Rigidity, Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Spastic tetrapl...	ORPHA:88619
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death	OMIM:273680
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Clonus, Tremor, Jaundice, Hypopnea, Respiratory failure, Hypertonia, Dys...	OMIM:617248
Adult-Onset Autosomal Dominant Leukodystrophy	Tremor, Dysmetria, Gait ataxia, Intention tremor, Ataxia, Action tremor, Gait disturbance, Abnorm...	ORPHA:99027
Fanconi Anemia, Complementation Group T	Acute myeloid leukemia, Pancytopenia, Anemia, Thrombocytopenia	OMIM:616435
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Apnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pa...	ORPHA:220493
Lujo Hemorrhagic Fever	Respiratory distress, Shock, Crackles, Excessive bleeding after a venipuncture, Nonproductive cou...	ORPHA:319213
Ciliary Dyskinesia, Primary, 20	Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur...	OMIM:615067
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Broad-based gait, Ataxia, Abnormal eating behavior, Tremor, Tongue thrusting, Obes...	ORPHA:98794
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 2	Thrombocytopenia, Congenital thrombocytopenia, Anemia, Neutropenia	OMIM:616738
Diffuse Neonatal Hemangiomatosis	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:2123
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure, Interictal epileptiform activity, Dysphagia	OMIM:620166
Congenital Tracheomalacia	Apnea, Decreased peak expiratory flow, Cough, Emphysema, Neonatal respiratory distress, Intercost...	ORPHA:95430
Aicardi-Goutieres Syndrome 3	Thrombocytopenia, Hepatosplenomegaly	OMIM:610329
X-Linked Intellectual Disability, Cilliers Type	Hypergonadotropic hypogonadism, Shyness, Cryptorchidism, Male hypogonadism, Failure to thrive, De...	ORPHA:163971
Mitochondrial Complex Iv Deficiency, Nuclear Type 4	Apnea	OMIM:619048
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Diminished ability to concentrate, Recurrent hand flapping, S...	OMIM:615516
Tricuspid Atresia	Pulmonary artery atresia, Cyanosis	ORPHA:1209
Long Qt Syndrome 13	Cardiac arrest, Pulmonary embolism, Congestive heart failure, Permanent atrial fibrillation, Atri...	OMIM:613485
48,Xxxy Syndrome	Tremor, Cryptorchidism, Obesity, Irritability, Azoospermia, Hypogonadism, Infertility, Attention ...	ORPHA:96263
Bartter Syndrome, Type 5, Antenatal, Transient	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:300971
Developmental And Epileptic Encephalopathy 101	Apnea, Myoclonus, Opisthotonus	OMIM:619814
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Atelectasis, Respiratory insufficiency, Dysphagia, Cardiomyopathy, Respiratory f...	ORPHA:258
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Transient ischemic attack, Respiratory insufficiency due to musc...	ORPHA:365
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency	Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Intraalveolar phosph...	ORPHA:217563
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia	Hyperactivity, Attention deficit hyperactivity disorder	OMIM:617182
Hyperkalemic Periodic Paralysis	Hyperkalemia	OMIM:170500
Xq28 (MECP2) duplication	Inability to walk, Depression, Gait ataxia, Dysphagia, Failure to thrive, Abnormal repetitive man...	DECIPHER:45
Allergic Bronchopulmonary Aspergillosis	Asthma, Bronchiectasis, Respiratory insufficiency, Cough, Pulmonary arterial hypertension, Emphysema	ORPHA:1164
Alpha-2-Plasmin Inhibitor Deficiency	Bruising susceptibility, Joint hemorrhage, Persistent bleeding after trauma, Hemothorax	OMIM:262850
Intellectual Developmental Disorder, X-Linked 98	Hyperactivity, Failure to thrive, Ataxia, Aggressive behavior, Bulimia, Self-biting, Stereotypica...	OMIM:300912
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Peripheral axonal neuropathy, Axonal degeneration, Paradoxical respiration	OMIM:620011
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Hyperactivity, Aggressive behavior, Tremor, Attention deficit hyperactivity disorder, Bruxism, De...	OMIM:618342
Joubert Syndrome	Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern...	ORPHA:475
Tubulinopathy-Associated Dysgyria	Ataxia, Hypoplasia of the pons, Abnormal brainstem morphology, Attention deficit hyperactivity di...	ORPHA:467166
Proximal 16P11.2 Microdeletion Syndrome	Dystonia, Obesity, Choreoathetosis, Attention deficit hyperactivity disorder, Impaired social int...	ORPHA:261197
Polymicrogyria Due To Tubb2B Mutation	Hypoplasia of the pons, Oromotor apraxia, Abnormal brainstem morphology, Hemiparesis, Abnormal te...	ORPHA:300573
Charcot-Marie-Tooth Disease Type 1F	Restless legs, Absent brainstem auditory responses, Optic nerve hypoplasia, Decreased nerve condu...	ORPHA:101085
Intestinal Botulism	Respiratory insufficiency due to muscle weakness, Dyspnea, Death in infancy, Dysphagia	ORPHA:178481
Bleeding Disorder, Platelet-Type, 21	Thrombocytopenia, Impaired ADP-induced platelet aggregation, Impaired platelet aggregation, Incre...	OMIM:617443
Obesity, Hyperphagia, And Developmental Delay	Abnormal repetitive mannerisms, Polyphagia, Obesity	OMIM:613886
Hypomagnesemia 2, Renal	Hypokalemia, Hypomagnesemia	OMIM:154020
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Oromandibular Dystonia	Respiratory distress, Dysphagia, Bruxism	ORPHA:93958
Myotonic Dystrophy 1	Respiratory distress, Obsessive-compulsive trait, Dysphagia	OMIM:160900
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Intellectual Developmental Disorder, Autosomal Recessive 39	Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:615541
Charcot-Marie-Tooth Disease, Type 4D	Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Sensorineural hearing i...	OMIM:601455
Folate Malabsorption, Hereditary	Leukopenia, Folate-responsive megaloblastic anemia, Thrombocytopenia, Neutropenia	OMIM:229050
Mercury Poisoning	Respiratory distress, Anorexia, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress, Optic atrophy, Telangiectasia, EEG abnormality, Pontocerebellar atrophy	OMIM:608799
Joubert Syndrome 21	Apnea, Ataxia, Dyspnea, Respiratory failure, Hypoplasia of the brainstem, Dysphagia, Oculomotor a...	OMIM:615636
Autosomal Dominant Hyper-Ige Syndrome	Atelectasis, Generalized abnormality of skin, Recurrent respiratory infections, Cough	ORPHA:2314
Rett Syndrome, Congenital Variant	Dystonia, Tongue thrusting, Athetosis, Irritability, Impaired social interactions, Bruxism, Abnor...	OMIM:613454
Nephronophthisis-Like Nephropathy 2	Polydipsia	OMIM:619468
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Platelet Disorder, Familial, With Associated Myeloid Malignancy	Acute myeloid leukemia, Acute monocytic leukemia, Impaired platelet aggregation, Abnormal dense g...	OMIM:601399
Diffuse Alveolar Hemorrhage	Respiratory failure requiring assisted ventilation, Ground-glass opacification, Dyspnea, Increase...	ORPHA:90060
Spinocerebellar Ataxia Type 17	Torticollis, Ataxia, Involuntary movements, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal si...	ORPHA:98759
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Tachypnea, Apnea, Ataxia	ORPHA:2318
Tonne-Kalscheuer Syndrome	Broad-based gait, Aggressive behavior, Shyness, Cryptorchidism, Tremor, Self-injurious behavior, ...	OMIM:300978
Platelet Disorder, Undefined	Impaired platelet aggregation, Thrombocytopenia	OMIM:173420
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome	Tremor, Overweight, Self-mutilation, Depression, Gait disturbance, Abnormal repetitive mannerisms...	ORPHA:457240
Lymphoproliferative Syndrome 1	Pancytopenia, Autoimmune hemolytic anemia, Elevated circulating C-reactive protein concentration,...	OMIM:613011
Intellectual Disability-Alacrima-Achalasia Syndrome	Delayed early-childhood social milestone development, Dysphagia, Aggressive behavior	ORPHA:289483
Congenital Fibrinogen Deficiency	Abnormal bleeding, Tachycardia, Cyanosis, Internal hemorrhage, Prolonged prothrombin time, Gingiv...	ORPHA:335
Thrombocytopenia 3	Thrombocytopenia, Decreased mean platelet volume	OMIM:273900
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress, Anorexia	ORPHA:79312
Joubert Syndrome 2	Central apnea, Ataxia, Episodic tachypnea, Brainstem dysplasia, Thickened superior cerebellar ped...	OMIM:608091
Immunodeficiency 46	Neutropenia, Anemia, Intermittent thrombocytopenia	OMIM:616740
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Ataxia, Head titubation, Abnormal brainstem morphology, Oculomotor apraxia, Elongated superior ce...	ORPHA:370022
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Apnea	OMIM:619797
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency	Tachypnea	OMIM:245050
Leukodystrophy, Hypomyelinating, 13	Prolonged brainstem auditory evoked potentials, Exaggerated startle response, Optic atrophy, Ataxia	OMIM:616881
Cri-Du-Chat Syndrome	Hyperactivity, Small for gestational age, Aggressive behavior, Cryptorchidism, Difficulty walking...	OMIM:123450
Lymphoid Interstitial Pneumonia	Multiple pulmonary cysts, Crackles, Ground-glass opacification, Raynaud phenomenon, Dyspnea, Whee...	ORPHA:79128
Hermansky-Pudlak Syndrome 9	Leukopenia, Abnormal platelet aggregation, Thrombocytopenia	OMIM:614171
Transaldolase Deficiency	Hepatosplenomegaly, Anemia, Abnormal circulating glutamine concentration, Increased serum bile ac...	ORPHA:101028
Sitosterolemia 1	Reticulocytosis, Hyperapobetalipoproteinemia, Reduced haptoglobin level, Thrombocytopenia, Spleno...	OMIM:210250
Primary Dystonia, Dyt4 Type	Respiratory distress, Dysphagia	ORPHA:98805
Isolated Right Ventricular Hypoplasia	Tricuspid regurgitation, Cyanosis, Abnormal atrioventricular conduction, Right ventricular failur...	ORPHA:439
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress, Dysphagia	ORPHA:89844
Brunet-Wagner Neurodevelopmental Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:619690
Beta-Thalassemia	Abnormal hemoglobin, Microcytic anemia, Splenomegaly, Anemia, Abnormality of iron homeostasis, Th...	ORPHA:848
Charcot-Marie-Tooth Disease, Type 4C	Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial...	OMIM:601596
Autoinflammation With Infantile Enterocolitis	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increased circ...	OMIM:616050
Intellectual Developmental Disorder, Autosomal Dominant 56	Broad-based gait, Dystonia, Ataxia, Impulsivity, Inability to walk, Impaired social interactions,...	OMIM:617854
47,Xyy Syndrome	Male infertility, Hyperactivity, Impulsivity, Cryptorchidism, Oligozoospermia, Azoospermia, Impai...	ORPHA:8
Tetanus	Respiratory distress, Tachypnea, Dysphagia	ORPHA:3299
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Pancytopenia, Hypertriglyceridemia, Elevated circulating C-reactive prote...	ORPHA:158057
Hyperglycinemia, Lactic Acidosis, And Seizures	Spastic tetraplegia, Apnea, Myoclonus, Respiratory insufficiency	OMIM:614462
Alexander Disease Type Ii	Abnormal medulla oblongata morphology, Ataxia, Rigidity, Babinski sign, Spasticity, Dysphagia, Sp...	ORPHA:363722
Aicardi-Goutieres Syndrome 6	Splenomegaly, Hemolytic anemia, Thrombocytopenia	OMIM:615010
Wt Limb-Blood Syndrome	Thrombocytopenia, Pancytopenia, Hypoplastic anemia, Leukemia	OMIM:194350
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Hypokalemia, Hyperamylasemia	OMIM:604278
Intellectual Developmental Disorder, Autosomal Recessive 79	Broad-based gait, Tongue thrusting, Gait ataxia, Oligomenorrhea, Intention tremor	OMIM:620393
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Joubert Syndrome 5	Central apnea, Ataxia, Episodic tachypnea, Aggressive behavior, Thickened superior cerebellar ped...	OMIM:610188
Thrombocytopenia, X-Linked, With Or Without Dyserythropoietic Anemia	Poikilocytosis, Congenital thrombocytopenia, Anemia of inadequate production, Acanthocytosis	OMIM:300367
Joubert Syndrome 4	Ataxia, Oculomotor apraxia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI, Thic...	OMIM:609583
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Recurrent intrapulmonary hemorrhage, Transient ischemic attack, Myocardial infarction,...	ORPHA:183
Parasomnia, Sleep Bruxism Type	Bruxism	OMIM:606840
Systemic Lupus Erythematosus 17	Leukopenia, Lymphopenia, Thrombocytopenia, Autoimmune thrombocytopenia	OMIM:301080
Thrombotic Thrombocytopenic Purpura	Decreased serum creatinine, Reticulocytosis, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:54057
Myoclonic-Astatic Epilepsy	Hyperactivity, Ataxia, Tremor, Unsteady gait, Abnormal emotion, Impaired social interactions, Att...	ORPHA:1942
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, L...	OMIM:620067
Wagro Syndrome	Aggressive behavior, Obesity, Agitation, Low frustration tolerance, Compulsive behaviors, Impaire...	OMIM:612469
Hypophosphatasia, Infantile	Death in infancy, Stillbirth, Apnea, Anorexia	OMIM:241500
Joubert Syndrome 6	Ataxia, Breathing dysregulation, Hypoplasia of the brainstem, Oculomotor apraxia, Elongated super...	OMIM:610688
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Apnea, Clonus, Respiratory failure, Hypertonia, Dysphagia	OMIM:617301
Neurodevelopmental Disorder With Poor Growth And Behavioral Abnormalities	Hyperactivity, Aggressive behavior, Dysphoria, Depression, Attention deficit hyperactivity disord...	OMIM:620242
Metachromatic Leukodystrophy, Late Infantile Form	Gait ataxia, Progressive gait ataxia, Tip-toe gait, Dystonia, Emotional lability, Abnormal social...	ORPHA:309256
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Akinesia, Opisthotonus, Dysphagia, Neonatal death, Petechiae, Purpura	OMIM:608013
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Hypoalbuminemia, Mono...	OMIM:226990
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Neutropenia, Thrombocytopenia, Megaloblastic anemia	OMIM:598500
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress, Restlessness, Interictal EEG abnormality, EEG with focal epileptiform disch...	ORPHA:544503
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Recurrent respiratory infections, Dyspnea, Atelectasis, Pneumothorax...	ORPHA:538
Pseudohypoaldosteronism, Type Ib3, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620126
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome	Neonatal death, Respiratory insufficiency	OMIM:601612
Wieacker-Wolff Syndrome	Neonatal respiratory distress, Apnea, Apraxia, Oculomotor apraxia, Spasticity	OMIM:314580
Absence Of The Pulmonary Artery	Abnormal EKG, Atrial flutter, Tachycardia, Atrial fibrillation, Orthopnea, Cyanosis, Recurrent re...	ORPHA:980
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 4	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612924
Temple Syndrome Due To Paternal 14Q32.2 Hypomethylation	Impaired social interactions	ORPHA:254531
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2	Hypokalemia, Hypomagnesemia	OMIM:618314
Pseudohypoaldosteronism, Type Ib2, Autosomal Recessive	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:620125
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Speech apraxia, Apnea, Recurrent pneumonia, Myoclonus, Asp...	ORPHA:314655
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Hyponatremia, Pancytopenia, Increased blood urea nitrogen, Anemia, Leukopenia, Hyperuricemia, Hyp...	OMIM:613845
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Dehydrated Hereditary Stomatocytosis 2	Hemolytic anemia, Reticulocytosis, Acanthocytosis, Splenomegaly, Increased mean corpuscular hemog...	OMIM:616689
Joubert Syndrome 31	Oculomotor apraxia, Molar tooth sign on MRI, Truncal ataxia	OMIM:617761
Congenitally Uncorrected Transposition Of The Great Arteries	Tachycardia, Cyanosis, Cardiac shunt, Congestive heart failure, Left ventricular outflow tract ob...	ORPHA:860
Metachromatic Leukodystrophy, Juvenile Form	Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,...	ORPHA:309263
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Urticaria, Dermatographic urticaria, Dysphagia, Inspiratory stridor	ORPHA:100050
Larsen-Like Syndrome, Lethal Type	Tracheomalacia, Neonatal death, Respiratory insufficiency	OMIM:245650
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal brainstem morphology, Spastic diplegia, Tetraparesis	ORPHA:255182
Fragile X-Associated Tremor/Ataxia Syndrome	Ataxia, Parkinsonism, Dysesthesia, Rigidity, Abnormal brainstem morphology, Dysmetria, Gait ataxi...	ORPHA:93256
Pseudohypoaldosteronism, Type Iib	Hyperchloremia, Hyperkalemia	OMIM:614491
Pseudohypoaldosteronism, Type Iid	Hyperchloremia, Hyperkalemia	OMIM:614495
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Luscan-Lumish Syndrome	Aggressive behavior, Shyness, Irregular menstruation, Obesity, Polyphagia	OMIM:616831
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 3	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612923
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 2	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612922
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 6	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612926
Renal Tubular Acidosis Iii	Hypokalemia	OMIM:267200
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine mo...	ORPHA:268943
Phosphoglycerate Dehydrogenase Deficiency	Thrombocytopenia, Megaloblastic anemia	OMIM:601815
Farber Disease	Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Recurrent upper respiratory...	ORPHA:333
Factor V Excess With Spontaneous Thrombosis	Pulmonary embolism	OMIM:134400
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Congenital Disorder Of Glycosylation, Type Iik	Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614727
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	OMIM:218030
Peroxisome Biogenesis Disorder 11A (Zellweger)	Apnea	OMIM:614883
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Spasticity, Apnea, Myoclonus	OMIM:612949
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress, Agitation, Abnormal repetitive mannerisms	ORPHA:927
Metachromatic Leukodystrophy, Adult Form	Short attention span, Decreased nerve conduction velocity, Progressive psychomotor deterioration,...	ORPHA:309271
Lymphoproliferative Syndrome, X-Linked, 1	Pancytopenia, Aplastic anemia, Elevated circulating C-reactive protein concentration, Splenomegal...	OMIM:308240
Teratoma, Pineal	Polydipsia	OMIM:273120
Amyotrophic Lateral Sclerosis	Fatigable weakness of bulbar muscles, Dyspnea, Abnormal respiratory system physiology, Respirator...	ORPHA:803
Intellectual Developmental Disorder With Autistic Features And Language Delay, With Or Without Seizures	Spastic ataxia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618906
Shukla-Vernon Syndrome	Broad-based gait, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Abn...	OMIM:301029
Cutis Laxa, Autosomal Recessive, Type Ic	Death in infancy, Progeroid facial appearance, Atelectasis, Recurrent pneumonia, Pulmonary hypopl...	OMIM:613177
Familial Cold Urticaria	Polydipsia	ORPHA:47045
Pseudohypoaldosteronism, Type Iia	Hyperkalemia	OMIM:145260
Developmental And Epileptic Encephalopathy 6B	Ataxia, Inability to walk, Choreoathetosis, Dystonia, Abnormal repetitive mannerisms	OMIM:619317
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Hypokalemia	OMIM:602722
Meckel Syndrome 13	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI	OMIM:617562
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:187300
Thyrotoxic Periodic Paralysis, Susceptibility To, 1	Hypokalemia	OMIM:188580
Developmental Delay, Language Impairment, And Ocular Abnormalities	Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque...	OMIM:620141
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Apneic episodes in infancy	OMIM:610006
Propionic Acidemia	Tachypnea, Apnea, Limb hypertonia	OMIM:606054
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Short attention span, Exaggerated startle response, Inability to walk, Chorea, Seizure, Status ep...	OMIM:617864
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response, Focal impaired awareness seizure, Generalized tonic seizure	ORPHA:163985
Thyrocerebrorenal Syndrome	Thrombocytopenia	ORPHA:3327
Joubert Syndrome 8	Ataxia, Hypertonia, Prolonged neonatal jaundice, Oculomotor apraxia, Molar tooth sign on MRI, Hyp...	OMIM:612291
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Respiratory failure, Tachypnea, Inspiratory stridor, Ventilator dependence with inability to wean	OMIM:604320
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Tachypnea	OMIM:616501
Joubert Syndrome 17	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Hyperventilation	OMIM:614615
Surfactant Metabolism Dysfunction, Pulmonary, 5	Dyspnea, Respiratory insufficiency, Exertional dyspnea	OMIM:614370
Mitochondrial Dna-Associated Leigh Syndrome	Apnea, Ataxia, Dyspnea, Chorea, Episodic respiratory distress, Gait ataxia, Hypertonia, Dysphagia...	ORPHA:255210
Fructose-1,6-Bisphosphatase Deficiency	Dyspnea, Apnea, Hyperventilation	OMIM:229700
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities	Resting tremor, Ataxia, Attention deficit hyperactivity disorder, Dystonia, Abnormal repetitive m...	OMIM:619725
Porphyria Due To Ala Dehydratase Deficiency	Restlessness, Confusion, Abnormal fear-induced behavior, Depression, Agitation, Delirium	ORPHA:100924
Ghosal Hematodiaphyseal Dysplasia	Refractory anemia, Leukopenia, Thrombocytopenia	OMIM:231095
Quebec Platelet Disorder	Thrombocytopenia, Impaired epinephrine-induced platelet aggregation	OMIM:601709
Gm2-Gangliosidosis, Ab Variant	Exaggerated startle response, Chorea, Myoclonic seizure, Seizure, Dementia, Dystonia	OMIM:272750
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome	Hyperactivity, Premature ovarian insufficiency, Aggressive behavior, Irritability, Abnormal repet...	ORPHA:391307
Intellectual Developmental Disorder, Autosomal Dominant 54	Lower limb spasticity, Apnea, Ataxia, Aggressive behavior, Inability to walk, Vocal cord paralysi...	OMIM:617799
Leishmaniasis	Pancytopenia, Abnormal macrophage morphology, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, ...	ORPHA:507
Autosomal Dominant Optic Atrophy Plus Syndrome	Absent brainstem auditory responses, Ataxia, Sensorineural hearing impairment, Optic atrophy, Tem...	ORPHA:1215
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Thrombocytopenia, Hyperammonemia, Anemia, Neutropenia	ORPHA:289916
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Sinusitis, Epistaxis, Hematemesis, Myocarditis, Atelec...	ORPHA:73263
D-2-Hydroxyglutaric Aciduria 1	Apnea, Inspiratory stridor	OMIM:600721
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Hypokalemia, Hypocalcemia, Anemia, Hypomagnesemia	OMIM:175500
Joubert Syndrome 27	Oculomotor apraxia, Ataxia, Molar tooth sign on MRI, Gait ataxia	OMIM:617120
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Gait ataxia, Abnormal repetitive mannerisms, Overfriendliness	OMIM:616579
Blepharophimosis-Impaired Intellectual Development Syndrome	Cryptorchidism, Low frustration tolerance, Attention deficit hyperactivity disorder, Abnormal rep...	OMIM:619293
Pseudo-Torch Syndrome 3	Death in infancy, Apnea, Respiratory insufficiency	OMIM:618886
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Exaggerated startle response, Apnea, Rigidity, Babinski sign, Abnormal pyramidal sign, Respirator...	OMIM:617527
3-Hydroxy-3-Methylglutaric Aciduria	Apnea, Ataxia, Anorexia, Spastic hemiparesis, Jaundice, Tachypnea, Myoclonus, Spasticity	ORPHA:20
Hyperkalemic Periodic Paralysis	Hyponatremia, Hypokalemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:682
Non-Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141179
Tay-Sachs Disease	Psychomotor deterioration, Seizure, Exaggerated startle response, Dementia	OMIM:272800
Chromosome 2Q37 Deletion Syndrome	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Skin-picking, Abnormal repe...	OMIM:600430
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Tachypnea, Hypoxemia, Respiratory f...	ORPHA:555874
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Hemolytic anemia, Lymphopenia, Thrombocytopenia	OMIM:616744
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Dysphagia, Respiratory failure, Chylothorax, Death in chi...	OMIM:620278
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Chromosome 15Q11.2 Deletion Syndrome	Ataxia, Compulsive behaviors, Impaired social interactions, Attention deficit hyperactivity disor...	OMIM:615656
Intellectual Developmental Disorder, Autosomal Dominant 51	Failure to thrive, Unilateral cryptorchidism, Aggressive behavior, Cryptorchidism, Fixated intere...	OMIM:617788
Idiopathic Aplastic Anemia	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Thrombocytopenia	ORPHA:88
Vitamin B12-Unresponsive Methylmalonic Acidemia	Macrocytic anemia, Hyperammonemia, Anemia, Leukopenia, Thrombocytopenia	ORPHA:27
Multifocal Atrial Tachycardia	Dyspnea, Tachypnea	ORPHA:3282
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, T...	OMIM:300607
Smith-Magenis Syndrome	Hyperactivity, Self hugging, Increased body weight, Head-banging, Onychotillomania, Abnormal repe...	OMIM:182290
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	EEG with polyspike wave complexes, Cyanotic episode, EEG with focal sharp waves	ORPHA:284417
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Ataxia, Inability to walk, Repetitive compulsive behavior, Cryptorchidism, Dysphagia, Depression,...	OMIM:300260
X-Linked Cerebral Adrenoleukodystrophy	Lower limb spasticity, Hyperactivity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann s...	ORPHA:139396
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Intellectual Developmental Disorder, Autosomal Dominant 52	Hyperactivity, Small for gestational age, Bilateral cryptorchidism, Cryptorchidism, Overweight, P...	OMIM:617796
Developmental And Epileptic Encephalopathy 67	Athetosis, Recurrent hand flapping, Gait disturbance, Dystonia	OMIM:618141
Bone Marrow Failure Syndrome 4	Leukopenia, Thrombocytopenia, Anemia	OMIM:618116
Rhabdoid Tumor	Thrombocytopenia, Hypercalcemia, Anemia	ORPHA:69077
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 5	Elevated circulating creatinine concentration, Anemia, Microangiopathic hemolytic anemia, Increas...	OMIM:612925
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Thrombocytopenia, Paris-Trousseau Type	Thrombocytopenia	OMIM:188025
Hypokalemic Periodic Paralysis	Episodic hypokalemia, Mildly elevated creatine kinase	ORPHA:681
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Postnatal growth retardation, Truncal obesity, Abdominal obesity, Short stature	OMIM:618160
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Recurrent respiratory infections, Left-to-right shunt, Cyanosis, Congestive heart failure, Left v...	ORPHA:99050
Isovaleric Acidemia	Leukopenia, Pancytopenia, Thrombocytopenia	OMIM:243500
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Lower limb spasticity, Apnea, Ataxia, Hemiparesis, Gait disturbance, Spastic paraparesis, Upper m...	ORPHA:395
Bardet-Biedl Syndrome 9	Polydipsia, Polyphagia	OMIM:615986
3-Methylglutaconic Aciduria Type 4	Thrombocytopenia	ORPHA:67048
Sepsis In Premature Infants	Cyanosis, Abnormal mucociliary clearance, Dyspnea, Nasal flaring, Jaundice, Abnormal respiratory ...	ORPHA:90051
Thyrotoxic Periodic Paralysis, Susceptibility To, 2	Hypokalemia	OMIM:613239
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Purpura, Cerebral hemorrhage, Pulmonary embolism	OMIM:614514
Colchicine Poisoning	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypo...	ORPHA:31824
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Tremor, Abnormal repetitive mannerisms, Ataxia, Gait ataxia	OMIM:619092
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Intellectual Developmental Disorder, Autosomal Dominant 45	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Recurren...	OMIM:617600
Pulmonary Edema Of Mountaineers, Susceptibility To	Elevated pulmonary artery pressure, Pulmonary edema	OMIM:178400
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Glass Syndrome	Restlessness, Hyperactivity, Broad-based gait, Apnea, Aggressive behavior, Frequent temper tantrums	OMIM:612313
20Q11.2 Microdeletion Syndrome	Brainstem dysplasia	ORPHA:444051
Tenorio Syndrome	Cerebral palsy, Apnea, Recurrent pneumonia, Clumsiness, Gait disturbance	OMIM:616260
Diabetes Insipidus, Nephrogenic, 2, Autosomal	Irritability, Polydipsia	OMIM:125800
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Aggressive behavior, Gait disturbance, Gait imbalance, Difficulty walking, Dysphagia	ORPHA:488627
Bilateral Perisylvian Polymicrogyria	Lower limb spasticity, Apnea, Paraparesis, Oromotor apraxia, Spastic tetraplegia, Dysmetria, Pseu...	ORPHA:98889
Diabetes Insipidus, Nephrogenic, 1, X-Linked	Irritability, Polydipsia	OMIM:304800
Pulmonary Hypertension, Primary, 1	Elevated right atrial pressure, Right ventricular failure, Increased pulmonary vascular resistanc...	OMIM:178600
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Tremor, Inability to walk, Tongue t...	ORPHA:72
Intellectual Developmental Disorder, X-Linked 107	Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior	OMIM:301013
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Central apnea, Ataxia, Repetitive compulsive behavior, Chorea, Self-biting, Choreoathetosis, Hype...	ORPHA:522077
Plaa-Associated Neurodevelopmental Disorder	Exaggerated startle response, Apnea, Rigidity, Respiratory insufficiency, Progressive spastic qua...	ORPHA:521426
Potocki-Lupski Syndrome	Hyperactivity, Small for gestational age, Oral-pharyngeal dysphagia, Failure to thrive, Abnormal ...	OMIM:610883
Bernard-Soulier Syndrome, Type A2, Autosomal Dominant	Hemolytic anemia, Increased mean platelet volume, Thrombocytopenia, Splenomegaly, Impaired ADP-in...	OMIM:153670
Immunodeficiency 97 With Autoinflammation	Autoimmune hemolytic anemia, Hypertriglyceridemia, Decreased proportion of CD4+CD25+ regulatory T...	OMIM:619802
Goodpasture Syndrome	Cyanosis, Crackles, Nodular pattern on pulmonary HRCT, Ground-glass opacification, Increased DLCO...	OMIM:233450
Tetrasomy 5P	Respiratory distress, Recurrent respiratory infections, Cyanosis, Congestive heart failure, Heart...	ORPHA:3309
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Central Hypoventilation Syndrome, Congenital, 1	Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation	OMIM:209880
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Hyperactivity, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, Aggressi...	OMIM:620292
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Respiratory failure, Tachypnea, Death in childhood	OMIM:615838
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Bleeding Disorder, Platelet-Type, 17	Increased RBC distribution width, Macrothrombocytopenia, Absence of alpha granules, Impaired coll...	OMIM:187900
Neurological Conditions Associated With Aminoacylase 1 Deficiency	Apnea	ORPHA:137754
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Pulmonary arterial hypertension, Tachypnea, Death in infancy, Death in childhood	OMIM:613320
Acquired Purpura Fulminans	Shock, Intracranial hemorrhage, Prolonged prothrombin time, Macular purpura, Acrocyanosis, Intern...	ORPHA:49566
Aicardi-Goutieres Syndrome 4	Splenomegaly, Pancytopenia, Thrombocytopenia, Hepatosplenomegaly	OMIM:610333
Orofaciodigital Syndrome Type 6	Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Molar tooth sign on MRI	ORPHA:2754
Myotonia, Potassium-Aggravated	Stridor, Apneic episodes in infancy	OMIM:608390
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Jaundic...	OMIM:615512
Histidinemia	Hyperactivity	ORPHA:2157
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction	Hypoventilation, Apnea, Dysphagia, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia...	OMIM:619482
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Thyrocerebroretinal Syndrome	Thrombocytopenia	OMIM:274240
Infantile-Onset X-Linked Spinal Muscular Atrophy	Respiratory distress, Degeneration of anterior horn cells, Abnormal anterior horn cell morphology...	ORPHA:1145
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Abnormal midbrain morphology, Impulsivity, Dysphagia	ORPHA:280195
Rodrigues Blindness	Ectodermal dysplasia, Nasal flaring	OMIM:268320
1P21.3 Microdeletion Syndrome	Abnormal eating behavior, Aggressive behavior, Shyness, Self-injurious behavior, Self-mutilation	ORPHA:293948
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type	Failure to thrive, Ataxia, Aggressive behavior, Self-injurious behavior, Gait disturbance, Compul...	OMIM:300986
Preeclampsia	Elevated circulating creatinine concentration, Thrombocytopenia	ORPHA:275555
Rapidly Involuting Congenital Hemangioma	Thrombocytopenia	ORPHA:141184
Short Stature, Developmental Delay, And Congenital Heart Defects	Self-injurious behavior, Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms...	OMIM:617044
Intermediate Osteopetrosis	Thrombocytopenia, Hypocalcemia, Anemia, Hepatosplenomegaly	ORPHA:210110
Hyperaldosteronism, Familial, Type Iii	Hypokalemia, Decreased circulating renin level	OMIM:613677
Ochoa Syndrome	Polydipsia	ORPHA:2704
Osteopetrosis, Autosomal Recessive 8	Splenomegaly, Thrombocytopenia, Anemia	OMIM:615085
Intellectual Developmental Disorder, Autosomal Recessive 13	Truncal obesity, Hyperactivity, Recurrent hand flapping, Bruxism	OMIM:613192
Inverted Duplicated Chromosome 15 Syndrome	Hyperactivity, Aggressive behavior, Cryptorchidism, Self-biting, Hypogonadism, Abnormal repetitiv...	ORPHA:3306
Abcd Syndrome	Total intestinal aganglionosis, Aganglionic megacolon, Abnormal auditory evoked potentials, Heari...	OMIM:600501
Mitochondrial Complex Iii Deficiency, Nuclear Type 5	Episodic tachypnea	OMIM:615160
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Reticulocytosis, Leukocytosis, Schistocytosis, Elevated circulating creatinine conc...	ORPHA:90038
Severe X-Linked Intellectual Disability, Gustavson Type	Hypertonia, Spasticity, Apneic episodes in infancy, Myoclonus	ORPHA:3078
Pyruvate Dehydrogenase Deficiency	Dyspnea, Tachypnea	ORPHA:765
Congenital Left Ventricular Aneurysm	Apnea	ORPHA:1055
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ...	OMIM:618278
Refractory Anemia With Excess Blasts	Acute myeloid leukemia, Abnormal circulating protein concentration, Anemia of inadequate producti...	ORPHA:86839
Adenylosuccinase Deficiency	Hyperactivity, Self-mutilation, Inappropriate laughter, Aggressive behavior	OMIM:103050
Pseudohypoaldosteronism, Type Iie	Hyperchloremia, Hyperkalemia	OMIM:614496
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Peroxisome Biogenesis Disorder 2A (Zellweger)	Jaundice, Apnea, Death in childhood	OMIM:214110
Insulin-Like Growth Factor I Deficiency	Hyperactivity, Short stature, Postnatal growth retardation, Decreased body weight, Intrauterine g...	OMIM:608747
Gaucher Disease, Type Iii	Splenomegaly, Pancytopenia, Thrombocytopenia	OMIM:231000
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Apnea, Opisthotonus	OMIM:210200
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Intermittent thrombocytopenia, Abnormal CD4:CD8 ratio, Splenomegaly, B lymphocytopenia, Neutropenia	OMIM:150550
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities	Failure to thrive, Abnormal repetitive mannerisms, Inappropriate laughter	OMIM:615802
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Gray Platelet Syndrome	Impaired thrombin-induced platelet aggregation, Abnormal number of alpha granules, Splenomegaly, ...	OMIM:139090
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress, Prolonged neonatal jaundice	ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 1	Death in infancy, Cyanosis, Apnea, Ataxia, Babinski sign, Respiratory insufficiency, Respiratory ...	OMIM:252010
Amed Syndrome, Digenic	Acute myeloid leukemia, Leukopenia, Thrombocytopenia, Anemia	OMIM:619151
Moebius Syndrome	Respiratory distress, Dysphagia	OMIM:157900
Macrophage Activation Syndrome	Hypertriglyceridemia, Elevated circulating C-reactive protein concentration, Splenomegaly, Increa...	ORPHA:158061
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Respiratory arrest, Tachypnea, Death in infancy	OMIM:201475
Chronic Bilirubin Encephalopathy	Central apnea, Cerebral palsy, Hypertonia, Prolonged neonatal jaundice	ORPHA:529808
Acute Bilirubin Encephalopathy	Central apnea, Cerebral palsy, Hypertonia, Prolonged neonatal jaundice	ORPHA:529799
Osteopetrosis, Autosomal Recessive 4	Splenomegaly, Reticulocytosis, Anemia, Thrombocytopenia	OMIM:611490
White-Sutton Syndrome	Waddling gait, Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Irritability...	OMIM:616364
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Transient ischemic attac...	OMIM:610655
Bilateral Generalized Polymicrogyria	Oculogyric crisis, Oral-pharyngeal dysphagia, Self-injurious behavior, Dystonia, Abnormal repetit...	ORPHA:208447
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis	Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials	OMIM:619260
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa...	OMIM:616482
Diarrhea 1, Secretory Chloride, Congenital	Hyponatremia, Hypokalemia, Increased circulating renin level, Hypochloremia	OMIM:214700
Esophageal Atresia	Respiratory distress, Cyanosis, Episodic respiratory distress, Chronic pulmonary obstruction, Res...	ORPHA:1199
Auriculocondylar Syndrome 1	Apnea	OMIM:602483
Ethylene Glycol Poisoning	Cyanosis, Tachypnea, Episodic respiratory distress, Addictive alcohol use, Abnormal pattern of re...	ORPHA:31826
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Congenital Disorder Of Glycosylation, Type Iif	Decreased platelet glycoprotein Ib, Macrothrombocytopenia, Thrombocytopenia, Neutropenia	OMIM:603585
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Cyanosis, Apnea, Prolonged QRS complex, Left axis deviation, Congestive hea...	OMIM:261740
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency	Purpura, Warfarin-induced skin necrosis, Pulmonary embolism	ORPHA:745
Joubert Syndrome With Hepatic Defect	Apnea, Ataxia, Tremor, Gait disturbance, Oculomotor apraxia, Abnormal pattern of respiration	ORPHA:1454
Hydrops, Lactic Acidosis, And Sideroblastic Anemia	Sideroblastic anemia, Extramedullary hematopoiesis, Anemia, Increased mean corpuscular volume, Hy...	OMIM:617021
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Dystonia	ORPHA:3240
Myoglobinuria, Acute Recurrent, Autosomal Recessive	Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:268200
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Acrocyanosis, Truncal ataxia, Intention tremor	OMIM:614407
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Atelectasis, Respiratory insufficiency, Restrictiv...	ORPHA:536467
Beta-Ketothiolase Deficiency	Anorexia, Tachypnea, Agitation, Cough, Oral aversion	ORPHA:134
Imerslund-Gräsbeck Syndrome	Reticulocytosis, Macrocytic anemia, Pancytopenia, Megaloblastic anemia, Anisopoikilocytosis, Abno...	ORPHA:35858
Lead Poisoning	Decreased female libido, Small for gestational age, Anorexia, Abnormality of the menstrual cycle,...	ORPHA:330015
Igg4-Related Ophthalmic Disease	Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve	ORPHA:449563
Noonan Syndrome 12	Lymphopenia, Thrombocytopenia	OMIM:618624
Intellectual Developmental Disorder, Autosomal Recessive 41	Self-injurious behavior, Abnormal repetitive mannerisms	OMIM:615637
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hemiparesis, Midline brainstem cleft, Unsteady gait, Hypoplasia of the pons	OMIM:617542
Short-Rib Thoracic Dysplasia 12	Neonatal death, Atelectasis, Pulmonary hypoplasia, Respiratory insufficiency	OMIM:269860
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Erythema, Stridor, Aspiration	OMIM:614653
Whim Syndrome	Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent pneumonia, Recurrent up...	ORPHA:51636
Spinocerebellar Ataxia Type 42	Resting tremor, Upper limb postural tremor, Babinski sign, Unsteady gait, Dysphagia, Gait ataxia,...	ORPHA:458803
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Tongue telangiectasia, Palate telangiectasia, Pulmonary arteriovenou...	OMIM:600376
Illum Syndrome	Apnea	OMIM:208155
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Obsessive-compulsive trait, Abnormal repetitive mannerisms, Attention deficit hyperactivity disor...	OMIM:618825
Myh9-Related Disease	Giant platelets, Neutrophil inclusion bodies, Congenital thrombocytopenia, Increased mean platele...	ORPHA:182050
Drug-Induced Lupus Erythematosus	Elevated circulating creatine kinase concentration, Elevated circulating C-reactive protein conce...	ORPHA:231111
Biotinidase Deficiency	Tachypnea, Apnea, Ataxia	OMIM:253260
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Citrullinemia Type I	Tachypnea	ORPHA:247525
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Spastic ataxia, Torticollis, Inability to walk, Delayed early-childhood social milestone developm...	ORPHA:300570
Corticosterone Methyloxidase Type Ii Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:610600
Rett Syndrome	Inability to walk, Gait disturbance, Agitation, Difficulty walking, Dystonia, Failure to thrive, ...	ORPHA:778
Developmental And Epileptic Encephalopathy 64	Paroxysmal dystonia, Dystonia, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repe...	OMIM:618004
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Short attention span, Exaggerated startle response, Broad-based gait, Ataxia, Seizure, Dystonia	ORPHA:438216
Relapsing Fever	Neutrophilia, Elevated circulating C-reactive protein concentration, Leukocytosis, Elevated circu...	ORPHA:91547
Infantile Krabbe Disease	Psychomotor deterioration, Prolonged brainstem auditory evoked potentials, Progressive neurologic...	ORPHA:206436
Rh Deficiency Syndrome	Hypoxemia, Jaundice, Tachypnea, Miscarriage	ORPHA:71275
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Babesiosis	Splenomegaly, Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:108
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Hyperactivity, Ataxia, Aggressive behavior, Obesity, Compulsive behaviors, Abnormal repetitive ma...	OMIM:618430
Relapsing Polychondritis	Pericarditis, Dyspnea, Myocarditis, Erythema, Atelectasis, Large vessel vasculitis, Cough, Abnorm...	ORPHA:728
Biotinidase Deficiency	Respiratory distress, Apnea, Ataxia, Spastic paraparesis, Hyperventilation	ORPHA:79241
Cerebrotendinous Xanthomatosis	Resting tremor, Short attention span, Optic disc pallor, Ataxia, Abnormal auditory evoked potenti...	ORPHA:909
Lissencephaly 9 With Complex Brainstem Malformation	Involuntary movements, Hypoplasia of the pons, Hypoplasia of the brainstem, Enlarged tectum, Dysp...	OMIM:618325
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Apnea, Tachypnea, Oculomotor apraxia, Elongated superior cerebellar peduncle, Recurrent aspiratio...	ORPHA:397715
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Apnea	ORPHA:1129
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Hyperactivity, Abnormal eating behavior, Ast...	ORPHA:209905
Familial Isolated Restrictive Cardiomyopathy	Orthopnea, Recurrent respiratory infections, Tricuspid regurgitation, Atrial fibrillation, Suprav...	ORPHA:75249
Hyperparathyroidism, Neonatal Severe	Dyspnea, Polydipsia, Tachypnea	OMIM:239200
Familial Hyperaldosteronism Type I	Polydipsia	ORPHA:403
Primary Myelofibrosis	Pancytopenia, Extramedullary hematopoiesis, Thrombocytopenia, Leukocytosis, Splenomegaly, Hepatos...	ORPHA:824
Congenital Toxoplasmosis	Thrombocytopenia, Anemia	ORPHA:858
Pulmonary Fibrosis-Hepatic Hyperplasia-Bone Marrow Hypoplasia Syndrome	Increased circulating ferritin concentration, Thrombocytopenia, Hepatosplenomegaly	ORPHA:210136
Kallmann Syndrome-Heart Disease Syndrome	Aortic regurgitation, Cyanosis, Congestive heart failure, Dilated cardiomyopathy, Heart murmur, M...	ORPHA:2326
Ataxia-Oculomotor Apraxia 4	Impaired vibratory sensation, Ataxia, Abnormal pyramidal sign, Tetraplegia, Atrophy/Degeneration ...	OMIM:616267
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Normochromic anemia, Elevated cir...	OMIM:614857
Double Outlet Right Ventricle	Tachypnea, Cyanosis	ORPHA:3426
Combined Oxidative Phosphorylation Defect Type 7	Ataxia, Oral-pharyngeal dysphagia, Abnormal brainstem MRI signal intensity, Inability to walk, Ab...	ORPHA:254930
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Corticosterone Methyloxidase Type I Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:203400
Myasthenia Gravis	Dyspnea, Acrocyanosis, Dysphagia	ORPHA:589
Bardet-Biedl Syndrome 17	Polydipsia, Cognitive impairment	OMIM:615994
Systemic Lupus Erythematosus	Hemolytic anemia, Thrombocytopenia, Leukopenia	OMIM:152700
Aortic Arch Interruption	Respiratory distress, Aortic regurgitation, Shock, Tricuspid regurgitation, Cyanosis, Blood press...	ORPHA:2299
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials	OMIM:617523
Pseudohypoaldosteronism, Type Iic	Hyperchloremia, Hyperkalemia, Decreased circulating renin level	OMIM:614492
Moyamoya Disease 6 With Or Without Achalasia	Thrombocytopenia	OMIM:615750
Romano-Ward Syndrome	Hypokalemia	ORPHA:101016
Isolated Agammaglobulinemia	Anemia, Thrombocytopenia, Abnormal lymphocyte morphology, Abnormality of neutrophils	ORPHA:229717
Agammaglobulinemia 9, Autosomal Recessive	Thrombocytopenia, Absent circulating B cells	OMIM:619693
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy	Paroxysmal dystonia, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder, De...	ORPHA:98784
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa...	OMIM:608836
Japanese Encephalitis	Respiratory distress, Decreased motor nerve conduction velocity, Abnormal substantia nigra morpho...	ORPHA:79139
Late Infantile Neuronal Ceroid Lipofuscinosis	Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Gait disturbance, Low frustration ...	ORPHA:168491
Neurodevelopmental Disorder With Ataxic Gait, Absent Speech, And Decreased Cortical White Matter	Broad-based gait, Gait ataxia, Difficulty walking, Dystonia, Abnormal repetitive mannerisms	OMIM:617807
Autoimmune Lymphoproliferative Syndrome, Type Iia	Autoimmune hemolytic anemia, Eosinophilia, Autoimmune thrombocytopenia, Splenomegaly, Increased p...	OMIM:603909
Phelan-Mcdermid Syndrome	Broad-based gait, Aggressive behavior, Tongue thrusting, Unsteady gait, Impaired social interacti...	OMIM:606232
Fg Syndrome Type 1	Broad-based gait, Cryptorchidism, Compulsive behaviors, Attention deficit hyperactivity disorder,...	ORPHA:93932
Immune Thrombocytopenia	Thrombocytopenia	ORPHA:3002
Familial Hyperaldosteronism Type Ii	Hypokalemia	ORPHA:404
Aicardi-Goutieres Syndrome 1	Inability to walk, Erythema, Abnormality of extrapyramidal motor function, Prolonged neonatal jau...	OMIM:225750
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Inability to walk, Exaggerated startle response, Hearing impairment	OMIM:620114
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia, Heart murmur	ORPHA:1867
Osteopetrosis, Autosomal Recessive 9	Elevated circulating creatinine concentration, Hyperkalemia, Anemia	OMIM:620366
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Exaggerated startle response, Impaired vibration sensation in the lower limbs, Difficulty walking	ORPHA:320406
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Jaundice, Neonatal death	OMIM:231680
Granulomatous Disease, Chronic, X-Linked	Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion	OMIM:306400
Choreoacanthocytosis	Compulsive behaviors, Limb dystonia, Loss of ambulation, Laryngeal dystonia, Decreased amplitude ...	ORPHA:2388
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin co...	OMIM:603553
Developmental And Speech Delay Due To Sox5 Deficiency	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder...	ORPHA:313892
Proteasome-Associated Autoinflammatory Syndrome 2	Increased CD4:CD8 ratio, Elevated circulating C-reactive protein concentration, B lymphocytopenia...	OMIM:618048
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Nonprogressive cerebellar ataxia, Abnormal...	ORPHA:314647
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hyperactivity, Aggressive behavior, Low frustration tolerance, Compulsive behaviors, Impaired soc...	OMIM:309520
East Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:199343
Stuve-Wiedemann Syndrome 1	Death in infancy, Apnea, Impaired pain sensation, Respiratory insufficiency, Dysphagia, Pulmonary...	OMIM:601559
Omenn Syndrome	Severe B lymphocytopenia, Eosinophilia, Splenomegaly, Thrombocytopenia, Hypoplasia of the thymus,...	OMIM:603554
Thiamine-Responsive Megaloblastic Anemia Syndrome	Thrombocytopenia, Megaloblastic anemia	ORPHA:49827
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Atelis Syndrome 1	Leukopenia, Thrombocytopenia, Anemia	OMIM:620184
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	OMIM:618291
Cardiomyopathy-Cataract-Hip Spine Disease Syndrome	Pulmonary embolism, Congestive heart failure, Hypertension, Hypertrophic cardiomyopathy, Arrhythmia	ORPHA:1345
Immunodeficiency, Common Variable, 12, With Autoimmunity	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:616576
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Hyperactivity, Broad-based gait, Ataxia, Tongue thrusting, Pica, Unsteady gait, Stereotypical bod...	OMIM:617865
Ectopic Aldosterone-Producing Tumor	Hypokalemia, Decreased circulating renin level	ORPHA:231632
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Generalized abnormality of skin, Respiratory insufficiency	ORPHA:367
Polycystic Kidney Disease 2 With Or Without Polycystic Liver Disease	Hypokalemia, Elevated circulating creatinine concentration, Elevated circulating alpha-fetoprotei...	OMIM:613095
Sandhoff Disease	Exaggerated startle response, Ataxia, Bilateral tonic-clonic seizure, Impaired temperature sensat...	OMIM:268800
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hypoplasia of the pons, Optic atrophy, A...	ORPHA:370959
Graves Disease, Susceptibility To, 1	Irritability, Hyperactivity, Polyphagia	OMIM:275000
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Aspiration...	OMIM:618733
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Inability to walk, Exaggerated startle response, Optic atrophy, Optic disc pallor	OMIM:609541
Specific Granule Deficiency 2	Absent neutrophil specific granules, Thrombocytopenia, Anemia, Neutropenia	OMIM:617475
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Methylmalonic Aciduria, Cblb Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251110
Cirrhotic Cardiomyopathy	Abnormal bleeding, Prolonged QT interval, Elevated jugular venous pressure, Left ventricular dias...	ORPHA:57777
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Pneumonia, Episodic tachypnea, Jaundice, Tachypnea	ORPHA:26793
Radio-Tartaglia Syndrome	Ataxia, Impulsivity, Aggressive behavior, Tremor, Obesity, Gait imbalance, Attention deficit hype...	OMIM:619312
Tay-Sachs Disease	Short attention span, Exaggerated startle response, Tremor, Inability to walk, Typical absence se...	ORPHA:845
Nephronophthisis 4	Polydipsia	OMIM:606966
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Megaloblastic Anemia Due To Dihydrofolate Reductase Deficiency	Pancytopenia, Increased mean corpuscular volume, Thrombocytopenia, Megaloblastic anemia	OMIM:613839
Stiff Person Spectrum Disorder	Exaggerated startle response, Falls, Difficulty walking	ORPHA:3198
Pediatric-Onset Graves Disease	Hyperactivity, Irritability, Emotional lability, Polydipsia, Polyphagia	ORPHA:525731
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hyperactivity, Aggressive behavior, Abnormality of neuronal migration, Progressive language deter...	ORPHA:163681
Juvenile Polyposis Syndrome	Hypokalemia, Hypoalbuminemia, Anemia	OMIM:174900
Pseudohypoaldosteronism Type 2	Hyperkalemia	ORPHA:757
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Sensorineural hearing impairment, Abnormal auditory evoked potentials	OMIM:109120
Coffin-Siris Syndrome 6	Abnormal repetitive mannerisms, Tics, Attention deficit hyperactivity disorder	OMIM:617808
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Methylmalonic acidemia, Hyperammonemia, Leukopenia, Hyperglycinemia, Neutropenia, Thrombocytopenia	OMIM:251000
Sea-Blue Histiocytosis	Splenomegaly, Thrombocytopenia, Sea-blue histiocytosis	ORPHA:158029
Cardiocranial Syndrome, Pfeiffer Type	Episodic tachypnea	ORPHA:2872
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Cystinosis	Hypokalemia, Hypophosphatemia	ORPHA:213
Hemolytic Uremic Syndrome, Atypical, Susceptibility To, 1	Reticulocytosis, Hyperlipidemia, Schistocytosis, Elevated circulating creatinine concentration, M...	OMIM:235400
Gamma-Heavy Chain Disease	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Splenomegaly, Thrombocytopenia, Abnorma...	ORPHA:100026
Hyperimmunoglobulinemia D With Periodic Fever	Ataxia, Erythema, Urticaria, Acrocyanosis, Purpura	ORPHA:343
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea, Aggressive behavior, Unsteady gait, Choreoathetosis, Hypertonia, Hyp...	ORPHA:17
Prader-Willi Syndrome Due To Translocation	Hypogonadotropic hypogonadism, Obesity, Head-banging, Compulsive behaviors, Attention deficit hyp...	ORPHA:177907
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome	Tremor, Abnormal brainstem MRI signal intensity, Babinski sign, Spastic paraplegia, Tip-toe gait,...	ORPHA:83629
Intellectual Developmental Disorder, Autosomal Recessive 71	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618504
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress, Attention deficit hyperactivity disorder	OMIM:619383
Sting-Associated Vasculopathy, Infantile-Onset	Cutis marmorata, Erythema, Tachypnea, Livedo reticularis, Telangiectasia	OMIM:615934
Aicardi-Goutieres Syndrome 5	Thrombocytopenia	OMIM:612952
Pelger-Huet Anomaly	Abnormality of neutrophils, Hyposegmentation of neutrophil nuclei, Giant platelets, Neutropenia, ...	OMIM:169400
Fragile X Syndrome	Macroorchidism, postpubertal, Hyperactivity, Self-biting, Recurrent hand flapping, Congenital mac...	OMIM:300624
Serotonin Syndrome	Restlessness, Tachypnea, Agitation	ORPHA:43116
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Carnitine Deficiency, Systemic Primary	Respiratory distress	OMIM:212140
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Spastic Tetraplegia And Axial Hypotonia, Progressive	Posteriorly rotated ears, Exaggerated startle response, Ataxia, Low-set ears	OMIM:618598
Thiamine-Responsive Megaloblastic Anemia Syndrome	Sideroblastic anemia, Thiamine-responsive megaloblastic anemia, Thrombocytopenia	OMIM:249270
Developmental And Epileptic Encephalopathy 66	Cryptorchidism, Broad-based gait, Abnormal repetitive mannerisms	OMIM:618067
Cardiogenic Shock	Abnormal EKG, Increased pulmonary capillary wedge pressure, Cardiac arrest, Myocardial infarction...	ORPHA:97292
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	Hyperactivity, Cryptorchidism, Gait ataxia, Low frustration tolerance, Abnormal repetitive manner...	OMIM:300486
4Q21 Microdeletion Syndrome	Tremor, Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:238750
Eisenmenger Syndrome	Respiratory distress, Ventricular tachycardia, Aortopulmonary window, Supraventricular tachycardi...	ORPHA:97214
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Tufted Angioma	Anemia, Thrombocytopenia	ORPHA:1063
Coronary Arterial Fistula	Orthopnea, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea	ORPHA:2041
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Inability to walk, Abnormal repetitive mannerisms	OMIM:613443
Thrombotic Thrombocytopenic Purpura, Hereditary	Reticulocytosis, Schistocytosis, Elevated circulating creatinine concentration, Microangiopathic ...	OMIM:274150
Aregenerative Anemia	Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Neutropenia, Decreased proportion of CD4-p...	ORPHA:101096
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Overweight, Repetitive compulsive behavior, Failure to thrive, Attention deficit hyperactivity di...	ORPHA:391372
Aggressive Systemic Mastocytosis	Pancytopenia, Hypersplenism, Thrombocytopenia, Leukocytosis, Hepatosplenomegaly, Increased propor...	ORPHA:98850
Senior-Loken Syndrome 3	Polydipsia	OMIM:606995
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Cryptorchidism, Athetosis, Dysphagia, Abnormal repetiti...	OMIM:619435
Braddock-Carey Syndrome 2	Thrombocytopenia	OMIM:619981
Immunodeficiency 91 And Hyperinflammation	Neutrophilia, Elevated circulating C-reactive protein concentration, Hepatosplenomegaly, Monocyto...	OMIM:619644
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Inability to walk, Abnormal repetitive mannerisms	ORPHA:411986
Primary Unilateral Adrenal Hyperplasia	Hypokalemia, Decreased circulating renin level	ORPHA:231580
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Sandhoff Disease, Infantile Form	Exaggerated startle response, Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Myoclonus	ORPHA:309155
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress, EEG with burst suppression, Optic atrophy	ORPHA:329178
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Hypertonia, Cyanosis, Opisthotonus	ORPHA:3304
Microlissencephaly-Micromelia Syndrome	Respiratory distress, EEG abnormality	ORPHA:50810
Cholera	Miscarriage, Tachypnea, Aspiration pneumonia, Palmoplantar cutis laxa, Hyperventilation	ORPHA:173
Immunodeficiency 10	Autoimmune hemolytic anemia, Thrombocytopenia	OMIM:612783
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Aggressive behavior, Tremor, Self-injurious behavior, Compulsive behaviors, Dysphagia, Attention ...	OMIM:617061
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Pulmonary Hypertension, Primary, 4	Atrial flutter, Pulmonary arterial hypertension with lack of acute response to NO challenge, Firs...	OMIM:615344
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Central apnea, Impaired temperature sensation, Bulimia, Self-injurious behavior, Abnormal temper ...	ORPHA:98793
Bartter Syndrome, Type 4B, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:613090
Pseudohypoaldosteronism, Type I, Autosomal Dominant	Hyponatremia, Hyperkalemia, Increased circulating renin level	OMIM:177735
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Central apnea, Impaired temperature sensation, Bulimia, Self-injurious behavior, Abnormal temper ...	ORPHA:177904
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Aggressive behavior, Scissor gait, Dysmetria, Attention deficit hyperactivity disorder, Truncal a...	OMIM:619121
Familial Hyperaldosteronism Type Iii	Hypokalemia	ORPHA:251274
X-Linked Adrenoleukodystrophy	Hyperactivity, Aggressive behavior, Dementia, Disinhibition, Cognitive impairment, Attention defi...	ORPHA:43
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Central apnea, Impaired temperature sensation, Bulimia, Self-injurious behavior, Abnormal temper ...	ORPHA:177901
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Eosinophilia, Autoimmune thrombocytopenia, Anemia, Coombs-positive hemolytic anemia, Neutropenia,...	OMIM:304790
Mend Syndrome	Hyperactivity, Failure to thrive, Aggressive behavior, Cryptorchidism, Abnormal social behavior	ORPHA:401973
Cog4-Cdg	Hypercholesterolemia, Thrombocytopenia, Hepatosplenomegaly	ORPHA:263501
Cockayne Syndrome Type 1	Absent brainstem auditory responses, Ataxia, Tremor, Optic atrophy, Gait disturbance, Difficulty ...	ORPHA:90321
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Telangiectasia of the skin, Myocardial infarction...	ORPHA:221
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Hyponatremia, Leukocytosis, Thrombocytopenia	ORPHA:83601
Cholesteryl Ester Storage Disease	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplen...	OMIM:278000
Hijazi-Reis Syndrome	Abnormal repetitive mannerisms, Gait disturbance	OMIM:301094
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Atrial fibrillation, Cyanosis, Junct...	ORPHA:137675
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Hypoventilation, Cyanosis, Central hypoventilation, Abnormal midbrain morphology, Impaired pain s...	ORPHA:293987
Niemann-Pick Disease Type C	Limb dystonia, Axial dystonia, Dystonia, Ataxia, Aggressive behavior, Tremor, Depression, Progres...	ORPHA:646
Toxic Epidermal Necrolysis	Respiratory distress, Cough, Erythema, Restrictive ventilatory defect, Dysphagia, Polydipsia	ORPHA:537
X-Linked Intellectual Disability, Cantagrel Type	Abnormal repetitive mannerisms	ORPHA:85277
Glycogen Storage Disease Due To Aldolase A Deficiency	Hemolytic anemia, Elevated creatine kinase after exercise, Hyperkalemia	ORPHA:57
Chromosome 5P13 Duplication Syndrome	Small for gestational age, Self-injurious behavior, Abnormal repetitive mannerisms, Compulsive be...	OMIM:613174
Congenital Enterovirus Infection	Abnormal macrophage morphology, Leukocytosis, Hyperammonemia, Anemia, Leukopenia, Hypoalbuminemia...	ORPHA:292
Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia 1	Amegakaryocytic thrombocytopenia, Aplastic anemia, Congenital thrombocytopenia	OMIM:605432
Meckel Syndrome 14	Cyanosis, Tricuspid regurgitation, Pneumothorax, Cardiorespiratory arrest, Mitral regurgitation, ...	OMIM:619879
Dyskeratosis Congenita, Autosomal Recessive 2	Pancytopenia, Thrombocytopenia	OMIM:613987
X-Linked Agammaglobulinemia	Thrombocytopenia, Hypocalcemia, Anemia, Neutropenia	ORPHA:47
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Central apnea, Impaired temperature sensation, Bulimia, Self-injurious behavior, Abnormal temper ...	ORPHA:98754
Immunodeficiency 98 With Autoinflammation, X-Linked	Autoimmune hemolytic anemia, Splenomegaly, B lymphocytopenia, Hemophagocytosis, Neutropenia, Agra...	OMIM:301078
Alazami Syndrome	Abnormal repetitive mannerisms, Self-mutilation, Stereotypical hand wringing, Abnormal eating beh...	ORPHA:319671
Tarp Syndrome	Athetoid cerebral palsy, Broad-based gait, Cyanosis, Apnea	ORPHA:2886
Dentici-Novelli Neurodevelopmental Syndrome	Inability to walk, Abnormal repetitive mannerisms	OMIM:619877
Coffin-Siris Syndrome 7	Abnormal repetitive mannerisms, Hyperactivity, Severe temper tantrums, Compulsive behaviors	OMIM:618027
Mucopolysaccharidosis Type 1	Sinusitis, Apnea, Hemiplegia/hemiparesis, Paresthesia, Cough	ORPHA:579
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency	Apnea	ORPHA:79644
Hepatoportal Sclerosis	Hypersplenism, Splenomegaly, Anemia, Leukopenia, Hypoalbuminemia, Hyperbilirubinemia, Thrombocyto...	ORPHA:64743
Neonatal Lupus Erythematosus	Hemolytic anemia, Pancytopenia, Aplastic anemia, Splenomegaly, Anemia, Neutropenia, Thrombocytopenia	ORPHA:398124
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Abnormal pons morphology, EEG with focal spike waves, Abnormal brainstem morphology	ORPHA:370997
Griscelli Syndrome	Abnormality of neutrophils, Splenomegaly, Leukopenia, Abnormal circulating lipid concentration, T...	ORPHA:381
Stormorken Syndrome	Howell-Jolly bodies, Elevated circulating creatine kinase concentration, Asplenia, Anemia, Hypopl...	OMIM:185070
Oculocerebrorenal Syndrome Of Lowe	Recurrent respiratory infections, Death in infancy, Atelectasis, Respiratory insufficiency, Self-...	ORPHA:534
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Tics, Compulsive behaviors, Decreased body weight, Abnormal repetitive mannerisms, Intention trem...	OMIM:619475
Sengers Syndrome	Thrombocytopenia	OMIM:212350
Van Esch-O'Driscoll Syndrome	Hypogonadotropic hypogonadism, Impulsivity, Shyness, Attention deficit hyperactivity disorder, Ab...	OMIM:301030
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome	Hyperactivity, Aggressive behavior	ORPHA:85327
Eosinophilic Fasciitis	Acrocyanosis, Paresthesia	ORPHA:3165
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress, Abnormal cranial nerve morphology	ORPHA:990
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Hemophagocytic Syndrome Associated With An Infection	Pancytopenia, Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, A...	ORPHA:158048
Arnold-Chiari Malformation Type I	Somatic sensory dysfunction, Dysesthesia, Babinski sign, Vocal cord paralysis, Gait ataxia, Progr...	ORPHA:268882
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Aggressive behavior, Tremor, Gait ataxia, Compulsive behaviors, Attention deficit hyperactivity d...	ORPHA:476126
Congenital Disorder Of Glycosylation, Type Ih	Thrombocytopenia, Elevated circulating creatinine concentration, Hypoalbuminemia, Anemia	OMIM:608104
Congenital Rubella Syndrome	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:290
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Craniofaciofrontodigital Syndrome	Respiratory distress, Prominent superficial veins, Dyspnea, Palmoplantar cutis laxa, Pulmonary ar...	ORPHA:363705
Fetal Gaucher Disease	Splenomegaly, Abnormality of the spleen, Pancytopenia, Thrombocytopenia	ORPHA:85212
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome	Abnormal repetitive mannerisms, Ataxia, Head tremor	OMIM:619428
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Snijders Blok-Campeau Syndrome	Broad-based gait, Unsteady gait, Abnormal repetitive mannerisms, Attention deficit hyperactivity ...	OMIM:618205
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Nephronophthisis 3	Polydipsia	OMIM:604387
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Atelectasis, Asthma, Chronic pulmonary obstruction, Abnormal lung lo...	ORPHA:567
Late-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556037
Pseudohypoaldosteronism, Type Ib1, Autosomal Recessive	Hyponatremia, Hyperkalemia	OMIM:264350
7Q11.23 Microduplication Syndrome	Collectionism, Hyperactivity, Aggressive behavior, Cryptorchidism, Unsteady gait, Polyphagia, Obe...	ORPHA:96121
Adrenocortical Carcinoma With Pure Aldosterone Hypersecretion	Hypokalemia, Decreased circulating renin level	ORPHA:231625
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency	Purpura, Subcutaneous hemorrhage, Pulmonary embolism	ORPHA:743
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death	OMIM:276822
Holocarboxylase Synthetase Deficiency	Tachypnea, Hyperventilation	OMIM:253270
Letterer-Siwe Disease	Thrombocytopenia, Neutropenia, Anemia, Hepatosplenomegaly	OMIM:246400
Snakebite Envenomation	Hyponatremia, Thrombocytopenia	ORPHA:449285
Nephronophthisis 1	Polydipsia	OMIM:256100
Osteopetrosis, Autosomal Recessive 1	Pancytopenia, Splenomegaly, Anemia, Hypocalcemia, Thrombocytopenia	OMIM:259700
Structural Heart Defects And Renal Anomalies Syndrome	Partial anomalous pulmonary venous return, Cyanosis, Systolic heart murmur, Death in infancy	OMIM:617478
Apparent Mineralocorticoid Excess	Hypokalemia, Decreased circulating renin level	ORPHA:320
Double Outlet Left Ventricle	Tachypnea, Cyanosis	ORPHA:3427
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Prolonged bleeding time, Pulmonary embolism, Congestive heart failur...	ORPHA:90308
Dengue Fever	Leukopenia, Hypoproteinemia, Thrombocytopenia	ORPHA:99828
Mirage Syndrome	Hyponatremia, Hyperkalemia, Anemia, Leukopenia, Hypoplastic spleen, Lymphopenia, Thrombocytopenia	OMIM:617053
Schwartz-Jampel Syndrome	Death in infancy, Apnea, Respiratory insufficiency, Blepharospasm, Hypertonia, Gait disturbance, ...	ORPHA:800
Smith-Magenis Syndrome	Failure to thrive in infancy, Obesity, Self-injurious behavior, Gait disturbance, Attention defic...	ORPHA:819
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Thrombocytopenia, Increased mean platelet volume	OMIM:300048
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Nephrogenic Diabetes Insipidus	Polydipsia, Anorexia	ORPHA:223
Osteopetrosis, Autosomal Recessive 2	Pancytopenia, Extramedullary hematopoiesis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:259710
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Methylmalonic acidemia, Pancytopenia, Megaloblastic anemia, Hyperhomocystinemia, Anemia, Cystathi...	OMIM:277380
Intellectual Developmental Disorder, Autosomal Dominant 1	Ataxia, Aggressive behavior, Self-injurious behavior, Inappropriate laughter, Impaired social int...	OMIM:156200
Intellectual Developmental Disorder, Autosomal Dominant 34	Broad-based gait, Abnormal repetitive mannerisms, Bruxism	OMIM:616351
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Necrotizing Enterocolitis	Apnea	ORPHA:391673
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Intellectual Developmental Disorder, Autosomal Dominant 48	Hyperactivity, Abnormal repetitive mannerisms	OMIM:617751
Marbach-Schaaf Neurodevelopmental Syndrome	Torticollis, Hemidystonia, Aggressive behavior, Tremor, Obesity, Attention deficit hyperactivity ...	OMIM:619680
Thrombocytopenia 6	Thrombocytopenia	OMIM:616937
Von Willebrand Disease, Type 3	Impaired platelet aggregation, Thrombocytopenia	OMIM:277480
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypophosphatemia, Anemia, Hypomagnesemia, Hyp...	OMIM:619743
Marshall-Smith Syndrome	Apnea, Stridor, Hypertonia, Aspiration pneumonia, Death in childhood, Pulmonary arterial hyperten...	OMIM:602535
Osteootohepatoenteric Syndrome	Increased serum bile acid concentration, Hypokalemia, Anemia	OMIM:619377
5Q14.3 Microdeletion Syndrome	Abnormal repetitive mannerisms	ORPHA:228384
Fixed Subaortic Stenosis	Aortic regurgitation, Orthopnea, Paroxysmal atrial fibrillation, Angina pectoris, Dyspnea, Conges...	ORPHA:3092
Thrombocytopenia 1	Congenital thrombocytopenia, Decreased mean platelet volume, Intermittent thrombocytopenia	OMIM:313900
Portal Hypertension, Noncirrhotic, 2	Splenomegaly, Thrombocytopenia	OMIM:619463
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency	Abnormal B cell count, Abnormal T cell count, Autoimmune hemolytic anemia, Eosinophilia, Hepatosp...	ORPHA:331206
Methylmalonic Aciduria, Cbla Type	Methylmalonic acidemia, Pancytopenia, Hyperammonemia, Anemia, Hyperglycinemia, Neutropenia, Throm...	OMIM:251100
Helix Syndrome	Hypokalemia, Hypermagnesemia	OMIM:617671
Houge-Janssens Syndrome 3	Self-injurious behavior, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:618354
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Den Hoed-De Boer-Voisin Syndrome	Ataxia, Tremor, Inability to walk, Overweight, Obesity, Agitation, Dysphagia, Decreased body weig...	OMIM:619229
Wolfram Syndrome	Central apnea, Polydipsia, Ataxia, Respiratory insufficiency	ORPHA:3463
Pancreatic And Cerebellar Agenesis	Reduced subcutaneous adipose tissue, Death in infancy, Apnea	OMIM:609069
Familial Hemophagocytic Lymphohistiocytosis	Hypertriglyceridemia, Splenomegaly, Increased circulating ferritin concentration, Anemia, Hypoalb...	ORPHA:540
Congenital Isolated Acth Deficiency	Hyponatremia, Hyperkalemia	ORPHA:199296
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Ataxia, Aganglionic megacolon, Short-segment ag...	OMIM:609136
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Thrombocytopenia, Lymphopenia, Anemia	OMIM:620365
Semilobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:220386
Alobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93926
Lobar Holoprosencephaly	Central apnea, Abnormal central motor function, Inability to walk, Oromotor apraxia, Abnormal bra...	ORPHA:93924
Acute Disseminated Encephalomyelitis	Respiratory failure requiring assisted ventilation, Somatic sensory dysfunction, Ataxia, Involunt...	ORPHA:83597
Pearson Syndrome	Reticulocytosis, Pancytopenia, Splenomegaly, Hypomagnesemia, Hypophosphatemia, Anemia, Hypokalemi...	ORPHA:699
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Leukocytosis, Hyperkalemia, Hyp...	ORPHA:94093
Arthrogryposis, Distal, Type 2A	Abnormal auditory evoked potentials, Hearing impairment	OMIM:193700
Neurodevelopmental Disorder With Hearing Loss, Seizures, And Brain Abnormalities	Thrombocytopenia	OMIM:616577
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Primary Aldosteronism, Seizures, And Neurologic Abnormalities	Hypokalemia, Decreased circulating renin level	OMIM:615474
Q Fever	Respiratory distress, Pneumonia, Anorexia, Cough, Pleural effusion, Purpura	ORPHA:781
Catastrophic Antiphospholipid Syndrome	Angina pectoris, Transient ischemic attack, Myocardial infarction, Pulmonary embolism, Arterial o...	ORPHA:464343
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms, Impulsivity, Aggressive behavior	OMIM:618914
Hereditary Folate Malabsorption	Pancytopenia, Eosinophilia, Thrombocytopenia, Megaloblastic anemia	ORPHA:90045
Polycythemia Vera	Gastrointestinal hemorrhage, Angina pectoris, Epistaxis, Portal hypertension, Pulmonary embolism,...	ORPHA:729
Early-Onset Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:556030
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Hermansky-Pudlak Syndrome 5	Absent platelet dense granules, Impaired ADP-induced platelet aggregation, Thrombocytopenia	OMIM:614074
Developmental And Epileptic Encephalopathy 49	Hyperactivity, Exaggerated startle response, Optic atrophy, EEG abnormality, Macrotia	OMIM:617281
Alg8-Cdg	Hyponatremia, Thrombocytopenia, Anemia	ORPHA:79325
Hyperekplexia 2	Exaggerated startle response, Myoclonus	OMIM:614619
Tuberous Sclerosis Complex	Hyperactivity, Impulsivity, Aggressive behavior, Repetitive compulsive behavior, Depression, Self...	ORPHA:805
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cryptorchidism, Head-banging, Attention deficit hyperactivity disorder, Frequent temper tantrums,...	OMIM:619103
Ogden Syndrome	Torticollis, Apnea, Prematurely aged appearance, Facial wrinkling, Jaundice, Pulmonary arterial h...	OMIM:300855
Brachytelephalangic Chondrodysplasia Punctata	Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,...	ORPHA:79345
Hughes-Stovin Syndrome	Pulmonary embolism, Dyspnea, Vasculitis, Cardiorespiratory arrest, Cough, Pulmonary artery aneury...	ORPHA:228116
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Hypokalemia	ORPHA:369929
Nocardiosis	Respiratory distress, Pneumonia, Anorexia, Productive cough, Nonproductive cough, Dyspnea, Pneumo...	ORPHA:31204
Whipple Disease	Polydipsia, Anorexia, Depression	ORPHA:3452
Juvenile Nephropathic Cystinosis	Hyponatremia, Hypouricemia, Elevated circulating creatinine concentration, Hypokalemia, Hypocalce...	ORPHA:411634
Fucosidosis	Abnormal pyramidal sign, Spastic tetraplegia, Spasticity, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Neurodevelopmental Disorder With Microcephaly, Cataracts, And Renal Abnormalities	Hyponatremia, Calcinosis, Splenomegaly, Hypokalemia, Hypocalcemia	OMIM:617913
Nephronophthisis 11	Polydipsia	OMIM:613550
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Cryptorchidism, Abnormal repetitive mannerisms	ORPHA:500159
Hermansky-Pudlak Syndrome 10	Apnea	OMIM:617050
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction, Brain stem compression	OMIM:100800
Adnp Syndrome	Respiratory distress, Aggressive behavior, Oral-pharyngeal dysphagia, Compulsive behaviors, Abnor...	ORPHA:404448
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Agitation, Cough, Hyperventilation	ORPHA:90068
Vexas Syndrome	Macrocytic anemia, Elevated circulating C-reactive protein concentration, Thrombocytopenia	OMIM:301054
Gaucher Disease, Type I	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Thrombocytopenia	OMIM:230800
Familial Cerebral Saccular Aneurysm	Hemiparesis, Abnormal brainstem morphology	ORPHA:231160
Xp21 Deletion Syndrome	Spasticity, Apneic episodes in infancy	ORPHA:261476
Pyruvate Carboxylase Deficiency	Anorexia, Tachypnea, Compulsive behaviors, Abnormal temper tantrums, Recurrent hand flapping, Abn...	ORPHA:3008
Helsmoortel-Van Der Aa Syndrome	Hyperactivity, Abnormal repetitive mannerisms, Cryptorchidism, Bruxism, Dysphagia, Obesity, Irrit...	OMIM:615873
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Pneumonia, Tachypnea, Ecchymosis	ORPHA:36234
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Cutis marmorata, Pulmonary embolism, Dyspnea, Asthma, Angioedema, Dysphagia...	ORPHA:3260
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:617303
Dihydropyrimidine Dehydrogenase Deficiency	Inability to walk, Abnormal social behavior, Irritability, Abnormal aggressive, impulsive or viol...	ORPHA:1675
Rauch-Steindl Syndrome	Hyperactivity, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:619695
Leigh Syndrome	Ataxia, Involuntary movements, Abnormal brainstem MRI signal intensity, Chorea, Focal T2 hyperint...	ORPHA:506
Acyl-Coa Dehydrogenase 9 Deficiency	Elevated circulating acylcarnitine concentration, Hyperammonemia, Decreased circulating carnitine...	ORPHA:99901
Congenital Disorder Of Glycosylation, Type Iil	Splenomegaly, Pancytopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:614576
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Inability to walk, Abnormal repetitive mannerisms, Dysphagia	OMIM:617802
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Bartter Syndrome, Type 3	Hyperchloriduria, Hypokalemia, Increased circulating renin level	OMIM:607364
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Tachypnea	OMIM:615751
Glucocorticoid Deficiency 4 With Or Without Mineralocorticoid Deficiency	Hyponatremia, Hyperkalemia	OMIM:614736
Transketolase Deficiency	Secondary amenorrhea, Self-injurious behavior, Attention deficit hyperactivity disorder, Compulsi...	ORPHA:488618
Pitt-Hopkins Syndrome	Ataxia, Aggressive behavior, Gait ataxia, Self-injurious behavior, Acrocyanosis, Abnormal pattern...	ORPHA:2896
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:612780
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cryptorchidism, Abnormal repetitive mannerisms, Attention deficit hyperactivity disorder	OMIM:620073
Kleefstra Syndrome 1	Aggressive behavior, Cryptorchidism, Obesity, Compulsive behaviors, Abnormal repetitive mannerisms	OMIM:610253
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy, Jaundice	OMIM:617156
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Immunodeficiency 87 And Autoimmunity	Decreased proportion of CD4-positive T cells, Hemolytic anemia, Lymphopenia, Autoimmune hemolytic...	OMIM:619573
22Q11.2 Duplication Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Compulsive behaviors	ORPHA:1727
Genitopatellar Syndrome	Apnea	ORPHA:85201
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia	OMIM:607143
Acute Promyelocytic Leukemia	Pancytopenia, Leukocytosis, Anemia, Leukopenia, Neutropenia, Thrombocytopenia	ORPHA:520
Trichotillomania	Hair-pulling, Compulsive behaviors	OMIM:613229
Cockayne Syndrome A	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Decreased nerve c...	OMIM:216400
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, First degree atrioventricular block, Heart block, Ventricular tac...	ORPHA:216694
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Ecchymosis, Internal hemorrhag...	ORPHA:99827
Hereditary Hemorrhagic Telangiectasia	Conjunctival telangiectasia, Gastrointestinal hemorrhage, Transient ischemic attack, Epistaxis, P...	ORPHA:774
Encephalomyopathy, Mitochondrial, Due To Voltage-Dependent Anion Channel Deficiency	Thrombocytopenia, Anemia, Neutropenia	OMIM:614520
Macrocephaly-Developmental Delay Syndrome	Self-injurious behavior, Abnormal repetitive mannerisms	ORPHA:397612
Senior-Loken Syndrome 1	Polydipsia	OMIM:266900
Chand Syndrome	Atelectasis	ORPHA:1401
Gangliocytoma	Paresthesia, Polyphagia, Abnormal brainstem morphology	ORPHA:251937
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Ataxia, Aggressive behavior, Unsteady gait, Low frustration tolerance, Abnormal temper tantrums, ...	ORPHA:457279
Cardiomyopathy, Familial Hypertrophic, 4	Respiratory distress, Dyspnea	OMIM:115197
Septo-Optic Dysplasia Spectrum	Polydipsia	ORPHA:3157
Mevalonic Aciduria	Normocytic hypoplastic anemia, Elevated circulating creatine kinase concentration, Elevated circu...	OMIM:610377
Poems Syndrome	Respiratory insufficiency due to muscle weakness, Restrictive ventilatory defect, Paresthesia, Hy...	ORPHA:2905
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Tremor, Exaggerated startle response, Hearing impairment	OMIM:620327
Transaldolase Deficiency	Pancytopenia, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:606003
Beemer-Ertbruggen Syndrome	Thrombocytopenia	ORPHA:1237
Combined Oxidative Phosphorylation Deficiency 14	Thrombocytopenia, Anemia, Elevated hepatic iron concentration	OMIM:614946
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Recurrent infections due to aspiration, Hypertension, Decre...	OMIM:223900
Joubert Syndrome 39	Hypopnea, Pain insensitivity, Molar tooth sign on MRI, Oculomotor apraxia	OMIM:619562
Arterial Tortuosity Syndrome	Respiratory distress, Prematurely aged appearance, Telangiectasia of the skin, Dyspnea, Cardiores...	ORPHA:3342
Kasabach-Merritt Syndrome	Respiratory distress, Petechiae, Hypopnea, Purpura	ORPHA:2330
Congenital Disorder Of Glycosylation, Type Iia	Aggressive behavior, Unsteady gait, Failure to thrive, Abnormal repetitive mannerisms, Self-mutil...	OMIM:212066
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Agitation, Cough, Ecchy...	ORPHA:340
Intellectual Developmental Disorder, Autosomal Dominant 38	Ataxia, Aggressive behavior, Hair-pulling, Self-injurious behavior, Low-set ears, Bruxism, Abnorm...	OMIM:616393
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hypertonia, Ataxia, Abnormal brainstem morphology	ORPHA:2720
Malignant Hyperthermia Of Anesthesia	Tachypnea, Hypercapnia	ORPHA:423
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353281
Osteopetrosis, Autosomal Recessive 5	Pancytopenia, Extramedullary hematopoiesis, Splenomegaly, Leukocytosis, Hypochromic microcytic an...	OMIM:259720
Pituitary Adenoma 4, Acth-Secreting	Hypokalemia	OMIM:219090
Senior-Boichis Syndrome	Polydipsia, Agitation, Attention deficit hyperactivity disorder, Aggressive behavior	ORPHA:84081
Chediak-Higashi Syndrome	Impaired neutrophil bactericidal activity, Thrombocytopenia, Splenomegaly, Neutropenia, Leukopeni...	OMIM:214500
Immunodeficiency, Common Variable, 8, With Autoimmunity	Pancytopenia, Autoimmune hemolytic anemia, Chronic neutropenia, Autoimmune thrombocytopenia, Sple...	OMIM:614700
Optic Atrophy-Intellectual Disability Syndrome	Repetitive compulsive behavior, Attention deficit hyperactivity disorder, Compulsive behaviors	ORPHA:401777
Dyskeratosis Congenita, Autosomal Dominant 2	Pancytopenia, Aplastic anemia, Leukopenia, Neutropenia, Thrombocytopenia	OMIM:613989
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Wolfram Syndrome 1	Sideroblastic anemia, Thrombocytopenia, Megaloblastic anemia	OMIM:222300
Truncus Arteriosus	Aortic regurgitation, Tachycardia, Cyanosis, Anomalous origin of one pulmonary artery from ascend...	ORPHA:3384
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Boutonneuse Fever	Leukopenia, Thrombocytopenia	ORPHA:83313
Chromosome 6Q24-Q25 Deletion Syndrome	Respiratory distress	OMIM:612863
Felty Syndrome	Splenomegaly, Anemia, Neutropenia, Abnormal lymphocyte morphology, Thrombocytopenia	ORPHA:47612
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Normochromic anemia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:618775
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Mgat2-Cdg	Respiratory distress, Stereotypical hand wringing, Hypsarrhythmia	ORPHA:79329
Renal Hypoplasia	Polydipsia	ORPHA:93101
Chédiak-Higashi Syndrome	Abnormal leukocyte morphology, Hyponatremia, Pancytopenia, Hypertriglyceridemia, Thrombocytopenia...	ORPHA:167
Idiopathic Pulmonary Arterial Hypertension	Tricuspid regurgitation, Increased pulmonary vascular resistance, Congestive heart failure, Dyspn...	ORPHA:275766
Ramos-Arroyo Syndrome	Respiratory distress, Self-mutilation	ORPHA:1051
Blue Rubber Bleb Nevus	Iron deficiency anemia, Thrombocytopenia	OMIM:112200
Marburg Hemorrhagic Fever	Lymphopenia, Reticulocytosis, Elevated circulating creatine kinase concentration, Hyperamylasemia...	ORPHA:99826
Heterotaxy, Visceral, 7, Autosomal	Pulmonary artery atresia, Pulmonary artery hypoplasia, Cyanosis, Total anomalous pulmonary venous...	OMIM:616749
Familial Dysautonomia	Recurrent respiratory infections, Orthostatic hypotension, Tachycardia, Abnormal pleura morpholog...	ORPHA:1764
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
2Q37 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Obesity, Compulsive beh...	ORPHA:1001
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Hypoventilation, Broad-based gait, Exaggerated startle response, Apnea, Involuntary movements, Br...	ORPHA:438213
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures	Thrombocytopenia	OMIM:617710
Proteasome-Associated Autoinflammatory Syndrome 3	Hypertriglyceridemia, Splenomegaly, Anemia, Lymphopenia, Thrombocytopenia	OMIM:617591
Schimke Immuno-Osseous Dysplasia	Thrombocytopenia, Hyperlipidemia, Decreased proportion of naive CD8 T cells, Abnormal proportion ...	ORPHA:1830
Stiff-Person Syndrome	Exaggerated startle response, Myoclonic spasms, Opisthotonus	OMIM:184850
Braddock-Carey Syndrome 1	Thrombocytopenia	OMIM:619980
Bohring-Opitz Syndrome	Inability to walk, Lower limb hypertonia, Apnea	ORPHA:97297
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormal repetitive mannerisms, Dysphagia	ORPHA:572013
Infantile Nephropathic Cystinosis	Hypokalemia, Abnormal blood ion concentration, Hypophosphatemia	ORPHA:411629
Autosomal Recessive Malignant Osteopetrosis	Apnea, Tremor, Chronic rhinitis, Pulmonary arterial hypertension, Bruising susceptibility	ORPHA:667
Adrenocortical Carcinoma	Hypokalemia	ORPHA:1501
Cyclic Neutropenia	Decreased eosinophil count, Lymphopenia, Cyclic neutropenia, Thrombocytopenia	ORPHA:2686
Overlap Myositis	Leukopenia, Abnormal circulating lipid concentration, Elevated circulating creatine kinase concen...	ORPHA:206572
Postinfectious Vasculitis	Cerebral vasculitis, Palpable purpura, Cutis marmorata, Pneumonia, Anorexia, Raynaud phenomenon, ...	ORPHA:48435
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion, Abnormal cranial nerve morphology	ORPHA:1546
Congenital Total Pulmonary Venous Return Anomaly	Respiratory distress, Respiratory failure requiring assisted ventilation, Tachycardia, Tricuspid ...	ORPHA:99125
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Pancytopenia, Abnormal lymphocyte count, Thrombocytopenia, Abnormal natural killer cell count, He...	ORPHA:79124
3P25.3 Microdeletion Syndrome	Attention deficit hyperactivity disorder, Abnormal repetitive mannerisms, Ataxia	ORPHA:435638
Prolidase Deficiency	Splenomegaly, Thrombocytopenia, Anemia	OMIM:170100
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia	OMIM:607485
Gitelman Syndrome	Hypokalemia, Increased circulating renin level, Hypomagnesemia	OMIM:263800
Hermansky-Pudlak Syndrome 2	Absent platelet dense granules, Decreased CD4:CD8 ratio, Splenomegaly, Impaired ADP-induced plate...	OMIM:608233
Trisomy 10P	Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Low vo...	ORPHA:171929
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Leukopenia, Elevated circulating creatine kinase concentration, Thrombocytopenia	OMIM:301056
Tick-Borne Encephalitis	Speech apraxia, Somatic sensory dysfunction, Incoordination, Abnormal medulla oblongata morpholog...	ORPHA:297
Pituitary Dermoid And Epidermoid Cysts	Polydipsia	ORPHA:91351
Generalized Pseudohypoaldosteronism Type 1	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:171876
Nephronophthisis 2	Elevated circulating creatinine concentration, Hyperkalemia	OMIM:602088
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Tachypnea	OMIM:613834
Congenital Disorder Of Deglycosylation 1	Respiratory distress, Restlessness, Oral-pharyngeal dysphagia, Impaired oropharyngeal swallow res...	OMIM:615273
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Reduced subcutaneous adipose tissue, Neonatal respiratory distress, Broad-based gait, Apnea, Impu...	OMIM:619503
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Shprintzen-Goldberg Syndrome	Apnea	ORPHA:2462
Bainbridge-Ropers Syndrome	Failure to thrive, Inability to walk, Cryptorchidism, Self-injurious behavior, Recurrent hand fla...	OMIM:615485
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Shwachman-Diamond Syndrome	Normocytic anemia, Acute myeloid leukemia, Macrocytic anemia, Transient neutropenia, Aplastic ane...	ORPHA:811
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Overweight, Head-banging, Self-injurious behavior, Attention deficit hyperactivity disorder, Freq...	OMIM:619575
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Schimke Immunoosseous Dysplasia	Pancytopenia, Abnormal T cell morphology, Anemia, Neutropenia, Lymphopenia, Thrombocytopenia	OMIM:242900
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Zika Virus Disease	Thrombocytopenia	ORPHA:448237
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Fanconi Anemia, Complementation Group E	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:600901
Intellectual Disability-Autism-Speech Apraxia-Craniofacial Dysmorphism Syndrome	Abnormal repetitive mannerisms	ORPHA:529965
Slc35A2-Cdg	Atrophy/Degeneration affecting the brainstem, EEG with focal epileptiform discharges, Abnormal mi...	ORPHA:356961
Hyperoxaluria, Primary, Type I	Cutis marmorata, Raynaud phenomenon, Arterial occlusion, Atrioventricular block, Intermittent cla...	OMIM:259900
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome	Inability to walk, Self-injurious behavior, Abnormal repetitive mannerisms, Limb dystonia	ORPHA:457351
Bartter Syndrome, Type 1, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypercalcemia, Hypochloremia, Hypokalemia, In...	OMIM:601678
Cockayne Syndrome B	Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Tremor, Decreased nerve c...	OMIM:133540
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Thrombocytopenia, Reticulocytopenia, Hyperbilirubinemia, Neut...	OMIM:557000
Osteopathia Striata With Cranial Sclerosis	Tracheomalacia, Apnea	OMIM:300373
Gaucher Disease Type 1	Pancytopenia, Hypersplenism, Splenomegaly, Anemia, Leukopenia, Thrombocytopenia	ORPHA:77259
Smith-Kingsmore Syndrome	Thrombocytopenia	OMIM:616638
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome	Hyperactivity, Hair-pulling, Protruding ear, Hypsarrhythmia, Low-set ears, Dysphagia, Abnormal re...	ORPHA:447997
Acute Radiation Syndrome	Lymphopenia, Granulocytopenia, Thrombocytopenia	ORPHA:454831
Arima Syndrome	Dyspnea, Polydipsia, Tachypnea	OMIM:243910
Andersen Cardiodysrhythmic Periodic Paralysis	Hypokalemia	OMIM:170390
Wilson Disease	Splenomegaly, Thrombocytopenia, Anemia	ORPHA:905
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90795
Kleefstra Syndrome	Aggressive behavior, Cryptorchidism, Obesity, Self-injurious behavior, Abnormal repetitive manner...	ORPHA:261494
Combined Immunodeficiency Due To Crac Channel Dysfunction	Splenomegaly, Hemolytic anemia, Thrombocytopenia	ORPHA:169090
Lig4 Syndrome	Acute lymphoblastic leukemia, Pancytopenia, Thrombocytopenia	OMIM:606593
Ehlers-Danlos Syndrome, Vascular Type	Pulmonary bulla, Recurrent intrapulmonary hemorrhage, Spontaneous pneumothorax, Repeated pneumoth...	OMIM:130050
White-Sutton Syndrome	Hyperactivity, Aggressive behavior, Obesity, Self-injurious behavior, Compulsive behaviors, Abnor...	ORPHA:468678
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Aggressive behavior, Asthma, Nasal flaring, Self-injurious behavior, Attention deficit hyperactiv...	ORPHA:466943
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Splenomegaly, Hypoalbuminemia, Hyperbilirub...	OMIM:251880
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness	Hyponatremia, Hyperchloriduria, Hypokalemia, Hypochloremia	OMIM:602522
Bone Marrow Failure Syndrome 3	Acute myeloid leukemia, Pancytopenia, Aplastic anemia, Thrombocytopenia, Persistence of hemoglobi...	OMIM:617052
Digeorge Syndrome	Atelectasis, Asthma, Chronic pulmonary obstruction, Recurrent pneumonia, Recurrent sinusitis, Att...	OMIM:188400
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Thrombocytopenia, Reticulocytopenia, Leukopenia, B lymphocytopenia, Neutropenia, Lymphopenia, Anemia	ORPHA:508542
Hoyeraal-Hreidarsson Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:3322
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Fanconi Anemia, Complementation Group A	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227650
Immunodeficiency 40	T lymphocytopenia, Thrombocytopenia	OMIM:616433
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Wiedemann-Steiner Syndrome	Hyperactivity, Aggressive behavior, Low frustration tolerance, Dysphagia, Failure to thrive, Abno...	ORPHA:319182
Pilarowski-Bjornsson Syndrome	Abnormal repetitive mannerisms	OMIM:617682
Stüve-Wiedemann Syndrome	Respiratory distress, Apnea, Impaired pain sensation, Asthma, Paresthesia	ORPHA:3206
Dyskeratosis Congenita, Autosomal Dominant 1	Aplastic anemia, Anemia, Leukopenia, Increased mean corpuscular volume, Lymphopenia, Thrombocytop...	OMIM:127550
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress, Palmoplantar cutis laxa	OMIM:123790
Maternal Uniparental Disomy Of Chromosome 6	Thrombocytopenia	ORPHA:96181
Dyskeratosis Congenita, Autosomal Dominant 3	Leukopenia, Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:613990
Dilated Cardiomyopathy With Ataxia	Ataxia, Bilateral cryptorchidism, Repetitive compulsive behavior, Dystonia, Action tremor	ORPHA:66634
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia, Thrombocytopenia	OMIM:208085
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Prominent superficial blood vessels, Cyanosis, Mitral stenosis, Angina pect...	ORPHA:740
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Methylmalonic acidemia, Hypomethioninemia, Megaloblastic anemia, Hyperhomocystinemia, Cystathioni...	OMIM:277400
Congenital Disorder Of Glycosylation, Type Iig	Thrombocytopenia, Giant platelets, Anemia	OMIM:611209
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Increased serum prostaglandin E2, Hypochloremia, Hypokalemia, Increased circula...	OMIM:241200
Asparagine Synthetase Deficiency	Exaggerated startle response, Optic nerve hypoplasia, Tremor, EEG with burst suppression, Hypsarr...	OMIM:615574
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Abnormal brainstem MRI signal intensity, Jaundice, ...	ORPHA:533
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Cryptorchidism, Attention deficit hyperactivity disorder, Decreased body weight, Abnormal repetit...	OMIM:619005
Bartter Syndrome Type 4	Hyponatremia, Hypochloremia, Hypokalemia, Increased circulating renin level, Hypomagnesemia	ORPHA:89938
Mitochondrial Complex I Deficiency, Nuclear Type 20	Thrombocytopenia	OMIM:611126
Slc39A8-Cdg	Inability to walk, Sudden episodic apnea	ORPHA:468699
Dyskeratosis Congenita, Autosomal Recessive 1	Pancytopenia, Aplastic anemia, Thrombocytopenia	OMIM:224230
Koolen-De Vries Syndrome Due To A Point Mutation	Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Small for gestational age, Testicular neoplasm, Cryptorchidism, Inappropriate laughter, Attention...	ORPHA:363958
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hyponatremia, Macrocytic anemia, Hypercalcemia, Eosinophilia, Hyperkalemia, Hy...	ORPHA:199299
Panhypophysitis	Polydipsia	ORPHA:95513
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Hemolytic anemia, Conjugated hyperbilirubinemia, Splenomegaly, Hyperkalemia, Stomatocytosis	OMIM:608885
Paroxysmal Nocturnal Hemoglobinuria	Hemolytic anemia, Reticulocytosis, Pancytopenia, Decreased serum iron, Abnormal erythrocyte enzym...	ORPHA:447
Chronic Thromboembolic Pulmonary Hypertension	Reduced vital capacity, Cardiac shunt, Pulmonary embolism, Right ventricular failure, Increased p...	ORPHA:70591
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Cyanosis, Tricuspid stenosis, Valvular pulmonary stenosis, Mitral regurg...	OMIM:212093
Lysinuric Protein Intolerance	Hyperalaninemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Hypercholesterole...	ORPHA:470
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary embolism, Jaundice, Optic atrophy, Pulmonary arterial hypertensio...	ORPHA:79282
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Neutropenia, Severe Congenital, 4, Autosomal Recessive	Intermittent thrombocytopenia, Erythroid hypoplasia, Thrombocytopenia, Splenomegaly, Hepatospleno...	OMIM:612541
Pediatric Systemic Lupus Erythematosus	Leukopenia, Lymphopenia, Microangiopathic hemolytic anemia, Thrombocytopenia	ORPHA:93552
Rabson-Mendenhall Syndrome	Hypokalemia, Increased C-peptide level	ORPHA:769
Cystinosis, Nephropathic	Hyponatremia, Splenomegaly, Reduced blood urea nitrogen, Hypophosphatemia, Hypokalemia, Hypomagne...	OMIM:219800
Foxg1 Syndrome Due To 14Q12 Microdeletion	Abnormal repetitive mannerisms	ORPHA:261144
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	ORPHA:90793
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction	ORPHA:505248
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Urticaria, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Hydroxykynureninuria	Abnormal repetitive mannerisms	ORPHA:79155
Alkuraya-Kucinskas Syndrome	Oculomotor apraxia, Pleural effusion, Kinked brainstem, Hypoplasia of the brainstem	OMIM:617822
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	ORPHA:496641
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Shigellosis	Hyponatremia, Leukocytosis, Abnormal blood ion concentration, Microangiopathic hemolytic anemia, ...	ORPHA:810
Primary Hyperoxaluria	Cutis marmorata, Heart block, Raynaud phenomenon, Arterial occlusion, Cardiomyopathy, Intermitten...	ORPHA:416
Mosaic Variegated Aneuploidy Syndrome	Apnea	ORPHA:1052
Pseudo-Torch Syndrome 1	Splenomegaly, Thrombocytopenia	OMIM:251290
Scorpion Envenomation	Restlessness, Erythema, Tachypnea, Abnormal nasal mucus secretion, Purpura	ORPHA:466677
Pseudo-Torch Syndrome 2	Thrombocytopenia	OMIM:617397
Oligomeganephronia	Polydipsia	ORPHA:2260
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress, Jaundice, Prolonged neonatal jaundice	OMIM:256810
Immunodeficiency 22	Decreased proportion of CD4-positive helper T cells, Thrombocytopenia, Anemia	OMIM:615758
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
Renal Hypoplasia, Bilateral	Hyponatremia, Hyperkalemia, Anemia	ORPHA:97362
Leptospirosis	Respiratory distress, Anorexia, Jaundice, Cough, Pleural effusion	ORPHA:509
Ebola Hemorrhagic Fever	Leukopenia, Lymphopenia, Thrombocytopenia	ORPHA:319218
Amoebiasis Due To Free-Living Amoebae	Restlessness, Sinusitis, Ataxia, Pneumonia, Abnormal medulla oblongata morphology, Abnormal midbr...	ORPHA:68
Immunodeficiency 47	Normocytic anemia, Accessory spleen, Decreased circulating copper concentration, Splenomegaly, Le...	OMIM:300972
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis, Hypohidrotic ectodermal dysplasia, Periorbital wrinkles	OMIM:305100
Niemann-Pick Disease, Type C2	Dystonia, Abnormal repetitive mannerisms, Ataxia, Dysphagia	OMIM:607625
Immunodeficiency With Hyper-Igm, Type 1	Splenomegaly, Hemolytic anemia, Thrombocytopenia, Neutropenia	OMIM:308230
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Thrombocytopenia, Elevated circulating C-reactive protein concentration, Lymphocytosis, Decreased...	OMIM:617718
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Gm1 Gangliosidosis Type 1	Exaggerated startle response, Low-set ears, Dystonia, Macrotia, Hearing impairment	ORPHA:79255
Tangier Disease	Hypertriglyceridemia, Hepatosplenomegaly, Anemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:31150
Diamond-Blackfan Anemia	Acute myeloid leukemia, Pure red cell aplasia, Erythroid hypoplasia, Reticulocytopenia, Persisten...	ORPHA:124
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hyperactivity, Cryptorchidism, Self-injurious behavior, Compulsive behaviors, Frequent temper tan...	OMIM:619512
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure	Normochromic anemia, Hypoalbuminemia, Thrombocytopenia	OMIM:254900
Fanconi Anemia, Complementation Group C	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227645
Familial Hypoaldosteronism	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:427
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Hypokalemia, Decreased circulating renin level	OMIM:202010
Lysinuric Protein Intolerance	Hypolysinemia, Splenomegaly, Increased circulating ferritin concentration, Hyperammonemia, Anemia...	OMIM:222700
Aicardi-Goutières Syndrome	Extrapyramidal muscular rigidity, Cutis marmorata, Tremor, Hemiplegia/hemiparesis, Abnormal pyram...	ORPHA:51
Good Syndrome	Abnormal leukocyte morphology, Thrombocytopenia, Anemia	ORPHA:169105
Gitelman Syndrome	Hypermagnesemia, Iron deficiency anemia, Hypokalemia, Hypocalcemia, Hypomagnesemia	ORPHA:358
Vipoma	Normochromic anemia, Hypokalemia, Hypercalcemia	ORPHA:97282
Wilson Disease	Hemolytic anemia, Decreased circulating ceruloplasmin concentration, Hypouricemia, Splenomegaly, ...	OMIM:277900
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Nail-biting, Broad-based gait, Posteriorly rotated ears, Optic nerve hypoplasia, Aggressive behav...	OMIM:620330
Distal Renal Tubular Acidosis	Hemolytic anemia, Hypokalemia	ORPHA:18
Megalocornea-Intellectual Disability Syndrome	Abnormal repetitive mannerisms, Ataxia	ORPHA:2479
Microcephaly 29, Primary, Autosomal Recessive	Emotional lability, Hyperactivity, Simplified gyral pattern	OMIM:620047
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Erythema, Respiratory acidosis, Fragile skin	OMIM:614748
Castleman Disease	Decreased mean corpuscular volume, Thrombocytopenia, Elevated circulating C-reactive protein conc...	ORPHA:160
Nmda Receptor Encephalitis	Dystonia, Oculogyric crisis, Hypersexuality, Depression, Choreoathetosis, Opisthotonus, Agitation...	ORPHA:217253
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal fear-induced behavior, Cryptorchidism, ...	ORPHA:353277
Recon Progeroid Syndrome	Thrombocytopenia, Anemia	OMIM:620370
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Anorexia, Or...	ORPHA:95455
Paget Disease Of Bone 2, Early-Onset	Paraparesis, Tetraparesis, Brain stem compression	OMIM:602080
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure, Fragile skin	ORPHA:79404
Pitt-Hopkins Syndrome	Cryptorchidism, Self-injurious behavior, Abnormal repetitive mannerisms, Gait ataxia	OMIM:610954
Noonan Syndrome 4	Thrombocytopenia	OMIM:610733
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Small for gestational age, Cryptorchidism, Gait disturbance, Attention deficit hyperactivity diso...	ORPHA:464311
Trichothiodystrophy	Reduced social reciprocity, Cryptorchidism, Intention tremor, Gait ataxia	ORPHA:33364
Fanconi Anemia, Complementation Group B	Aplastic anemia, Thrombocytopenia	OMIM:300514
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
Heterotaxy, Visceral, 1, X-Linked	Respiratory distress, Bilateral trilobed lung, Cyanosis, Total anomalous pulmonary venous return,...	OMIM:306955
Alg12-Cdg	Hyponatremia, B lymphocytopenia, Hypoalbuminemia, Hypocholesterolemia, Thrombocytopenia	ORPHA:79324
Ivic Syndrome	Leukocytosis, Thrombocytopenia	ORPHA:2307
Congenital Erythropoietic Porphyria	Hemolytic anemia, Reticulocytosis, Anisocytosis, Splenomegaly, Abnormal circulating porphyrin con...	ORPHA:79277
Overhydrated Hereditary Stomatocytosis	Prolonged neonatal jaundice, Jaundice, Pulmonary embolism	OMIM:185000
Hypomagnesemia 3, Renal	Polydipsia	OMIM:248250
Wiskott-Aldrich Syndrome	Hemolytic anemia, Abnormal eosinophil morphology, Microcytic anemia, Thrombocytopenia, Chronic le...	ORPHA:906
Adams-Oliver Syndrome	Leukopenia, Thrombocytopenia	ORPHA:974
Dyrk1A-Related Intellectual Disability Syndrome	Hyperactivity, Small for gestational age, Cryptorchidism, Gait disturbance, Failure to thrive, Ab...	ORPHA:464306
Classic Homocystinuria	Gastrointestinal hemorrhage, Anorexia, Pulmonary embolism, Intracranial hemorrhage, Hypertension,...	ORPHA:394
Birk-Landau-Perez Syndrome	Hyperkalemia, Increased circulating creatine kinase MB isoform	OMIM:617595
Diamond-Blackfan Anemia 21	Erythroid hypoplasia, Thrombocytopenia, Anemia	OMIM:620072
Takenouchi-Kosaki Syndrome	Thrombocytopenia, Increased mean platelet volume	OMIM:616737
Rajab Interstitial Lung Disease With Brain Calcifications 1	Tachypnea, Respiratory insufficiency, Respiratory failure, Cough, Emphysema	OMIM:613658
16Q24.3 Microdeletion Syndrome	Increased mean corpuscular volume, Thrombocytopenia	ORPHA:261250
Orofaciodigital Syndrome Type 2	Tachypnea, Apnea	ORPHA:2751
Exercise-Induced Malignant Hyperthermia	Flushing, Tachypnea, Crackles, Hypocapnia	ORPHA:466650
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Dysphagia, Abnormal repetitive mannerisms, R...	OMIM:616268
Diethylstilbestrol Syndrome	Central apnea	ORPHA:1916
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Hyponatremia, Severe B lymphocytopenia, Autoimmune thrombocytopenia, Hyperkalemia, Abnormal lymph...	ORPHA:293978
Hellp Syndrome	Hemolytic anemia, Decreased mean corpuscular hemoglobin concentration, Microangiopathic hemolytic...	ORPHA:244242
Shwachman-Diamond Syndrome 2	Normocytic anemia, Thrombocytopenia, Neutropenia	OMIM:617941
Fetal And Neonatal Alloimmune Thrombocytopenia	Neonatal alloimmune thrombocytopenia	ORPHA:853
Developmental And Epileptic Encephalopathy 2	Inability to walk, Abnormal repetitive mannerisms	OMIM:300672
Fanconi Anemia, Complementation Group F	Leukopenia, Thrombocytopenia, Anemia	OMIM:603467
Hypermobile Ehlers-Danlos Syndrome	Acrocyanosis, Apnea, Paresthesia	ORPHA:285
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Tachypnea	ORPHA:415
Erdheim-Chester Disease	Polydipsia	ORPHA:35687
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Kaposiform Lymphangiomatosis	Splenomegaly, Hepatosplenomegaly, Anemia, Abnormal spleen morphology, Thrombocytopenia	ORPHA:464329
Infection-Related Hemolytic Uremic Syndrome	Hyponatremia, Hemolytic anemia, Leukocytosis, Hyperkalemia, Hypocalcemia, Thrombocytopenia	ORPHA:544482
Acute Adrenal Insufficiency	Normocytic anemia, Hyponatremia, Hypercalcemia, Hyperkalemia, Increased circulating renin level, ...	ORPHA:95409
Hypotonia, Ataxia, And Delayed Development Syndrome	Broad-based gait, Ataxia, Cryptorchidism, Dysmetria, Gait ataxia, Dysphagia, Truncal ataxia, Abno...	OMIM:617330
Lathosterolosis	Thrombocytopenia, Anisopoikilocytosis, Abnormal platelet morphology	ORPHA:46059
Nelson Syndrome	Hypokalemia	ORPHA:199244
21Q22.11Q22.12 Microdeletion Syndrome	Thrombocytopenia, Anemia	ORPHA:261323
Generalized Glucocorticoid Resistance Syndrome	Hypokalemia	ORPHA:786
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Insulin-Resistance Syndrome Type B	Abnormal circulating lipid concentration, Abnormal circulating fatty-acid concentration, Leukopen...	ORPHA:2298
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Abnormal repetitive mannerisms, Opisthotonus	ORPHA:508533
Osteopetrosis With Renal Tubular Acidosis	Pancytopenia, Elevated circulating creatine kinase concentration, Anemia, Leukopenia, Elliptocyto...	ORPHA:2785
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Thrombocytopenia	OMIM:612394
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Hyperactivity, Broad-based gait, Ataxia, Aggressive behavior, Unsteady gait, Dysmetria, Gait atax...	OMIM:614756
Fanconi Anemia, Complementation Group D2	Pancytopenia, Reticulocytopenia, Anemia, Neutropenia, Leukemia, Thrombocytopenia	OMIM:227646
Kinsship Syndrome	Failure to thrive, Abnormal repetitive mannerisms, Bruxism	OMIM:619297
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Polydipsia	ORPHA:93111
Wars2-Related Combined Oxidative Phosphorylation Defect	Thrombocytopenia	ORPHA:572798
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop...	ORPHA:391487
Hyperparathyroidism-Jaw Tumor Syndrome	Polydipsia, Dysphagia	ORPHA:99880
Caroli Syndrome	Hypersplenism, Conjugated hyperbilirubinemia, Leukocytosis, Leukopenia, Hyperbilirubinemia, Throm...	ORPHA:480520
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Exaggerated startle response, Optic atrophy	OMIM:253800
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Cryptorchidism, Abnormal repetitive mannerisms, Obesity, Difficulty walking	OMIM:618653
Wiskott-Aldrich Syndrome	Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m...	OMIM:301000
Developmental And Epileptic Encephalopathy 100	Choreoathetosis, Abnormal repetitive mannerisms, Dysphagia, Gait ataxia	OMIM:619777
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Thrombocytopenia, Hyperbilirubinemia, Hypocalcemia, Anemia	ORPHA:163979
Parathyroid Carcinoma	Polydipsia, Dysphagia	ORPHA:143
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response, Tonic seizure, Seizure, Atonic seizure, Focal emotional seizure wit...	OMIM:618367
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Cryptorchidism, Abnormal repetitive mannerisms	OMIM:301040
Diamond-Blackfan Anemia 1	Macrocytic anemia, Congenital hypoplastic anemia, Reticulocytopenia, Persistence of hemoglobin F,...	OMIM:105650
Duplication Of The Pituitary Gland	Lower limb spasticity, Self-mutilation, Abnormal midbrain morphology	ORPHA:314621
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia, Hypsarrhythmia, Dysphagia	ORPHA:798
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Severe failure to thrive, Self-injurious behavior, Abnormal repetitive mannerisms, Cryptorchidism	ORPHA:468631
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Erythema	ORPHA:2556
Williams Syndrome	Ataxia, Hypogonadotropic hypogonadism, Failure to thrive in infancy, Tremor, Cryptorchidism, Obes...	ORPHA:904
Ivic Syndrome	Leukocytosis, Thrombocytopenia	OMIM:147750
Lysosomal Acid Lipase Deficiency	Hyponatremia, Hypertriglyceridemia, Bone-marrow foam cells, Hypersplenism, Vacuolated lymphocytes...	ORPHA:275761
Tsh-Secreting Pituitary Adenoma	Hypokalemia	ORPHA:91347
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level	ORPHA:90791
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Death in infancy, Tachypnea, Dysphagia	OMIM:220111
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Chronic Visceral Acid Sphingomyelinase Deficiency	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Autoimmune thrombocytopenia, Hyper...	ORPHA:77293
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Rubinstein-Taybi Syndrome 1	Respiratory distress, Hyperactivity, Impulsivity, EEG abnormality, Self-mutilation	OMIM:180849
Porphyria, Congenital Erythropoietic	Splenomegaly, Hemolytic anemia, Elevated circulating uroporphyrin concentration, Thrombocytopenia	OMIM:263700
Thrombocytopenia-Absent Radius Syndrome	Thrombocytopenia	ORPHA:3320
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Abnormal repetitive mannerisms, Obesity, Aggressive behavior	OMIM:301066
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Broad-based gait, Repetitive compulsive behavior, Gait ataxia, Stereotypical body rocking, Failur...	ORPHA:513456
Familial Glucocorticoid Deficiency	Hyponatremia, Hyperkalemia	ORPHA:361
Monosomy 22Q13.3	Hyperactivity, Hair-pulling, Bruxism, Macrotia, Hearing impairment	ORPHA:48652
Proximal Renal Tubular Acidosis	Hypokalemia, Bicarbonaturia	ORPHA:47159
Aicardi-Goutieres Syndrome 7	Hemolytic anemia, Pancytopenia, Splenomegaly, Increased circulating ferritin concentration, Anemi...	OMIM:615846
Addison Disease	Normocytic anemia, Hyponatremia, Hypercalcemia, Thiamine-responsive megaloblastic anemia, Hyperka...	ORPHA:85138
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Thrombocytopenia, Anemia	OMIM:612199
Dubowitz Syndrome	Acute lymphoblastic leukemia, Thrombocytopenia, Anemia, Abnormality of neutrophils	ORPHA:235
Atelis Syndrome 2	Thrombocytopenia, Anemia	OMIM:620185
Full Nf2-Related Schwannomatosis	Somatic sensory dysfunction, Unsteady gait, Hemiparesis, Brain stem compression, Hyperesthesia, D...	ORPHA:637
8Q24.3 Microdeletion Syndrome	Respiratory distress, Hyperactivity, Tics, Dysphagia	ORPHA:508488
Gaucher Disease Type 3	Splenomegaly, Thrombocytopenia, Pancytopenia, Anemia	ORPHA:77261
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the pons, Hypoplasia of the brainstem, Abnormal midbrain morphology, Limb hypertonia	ORPHA:444072
Classical Ehlers-Danlos Syndrome	Prolonged bleeding time, Orthostatic hypotension, Prematurely aged appearance, Poor wound healing...	ORPHA:287
Autosomal Recessive Polycystic Kidney Disease	Polydipsia, Cognitive impairment	ORPHA:731
Stevens-Johnson Syndrome	Anemia, Thrombocytopenia, Abnormality of neutrophils	ORPHA:36426
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Small for gestational age, Cryptorchidism, Hyperactivity, Abnormal repetitive mannerisms	OMIM:309590
Alport Syndrome 1, X-Linked	Thrombocytopenia	OMIM:301050
Leprechaunism	Hypokalemia, Increased circulating renin level	ORPHA:508
Norrie Disease	Cachexia, Cryptorchidism, Self-injurious behavior, Irritability, Attention deficit hyperactivity ...	ORPHA:649
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Hyponatremia, Hyperkalemia	ORPHA:90790
Nijmegen Breakage Syndrome	T lymphocytopenia, Autoimmune hemolytic anemia, B lymphocytopenia, Thrombocytopenia	OMIM:251260
Early Infantile Epileptic Encephalopathy	Hyperactivity, Tremor, EEG with burst suppression, Hypsarrhythmia, Choreoathetosis, Self-injuriou...	ORPHA:1934
Plague	Respiratory distress, Acute infectious pneumonia, Anorexia	ORPHA:707
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hyperbilirubinemia, Thrombocytopenia	ORPHA:464321
Mucopolysaccharidosis Type 2	Hyperactivity, Impulsivity, Aggressive behavior, Abnormal temper tantrums, Abnormal repetitive ma...	ORPHA:580
Generalized Arterial Calcification Of Infancy	Respiratory distress, Cyanosis, Transient ischemic attack, Retinal hemorrhage, Hypertension, Weak...	ORPHA:51608
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Accessory spleen, Severe B lymphocytopenia, Anemia, Lymphopenia, Thrombocytopenia	OMIM:620005
Meningioma	Hemifacial spasm, Abnormal central motor function, Ataxia, Progressive pulmonary function impairm...	ORPHA:2495
Fibular Hemimelia	Thrombocytopenia	ORPHA:93323
1P36 Deletion Syndrome	Cryptorchidism, Polyphagia, Obesity, Self-injurious behavior, Gait disturbance, Hypogonadism, Dys...	ORPHA:1606
Brucellosis	Elevated circulating C-reactive protein concentration, Hypersplenism, Thrombocytopenia, Leukocyto...	ORPHA:1304
Dyskeratosis Congenita	Anemia, Thrombocytopenia, Abnormality of neutrophils, Splenomegaly	ORPHA:1775
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Kinked brainstem, Hypoplasia of the brainstem, Optic atrophy, Optic nerve hypoplasia	OMIM:236670
Kikuchi-Fujimoto Disease	Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Leukopenia, Lymphocy...	ORPHA:50918
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Thrombocytopenia, Splenomegal...	OMIM:619991
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Splenomegaly, Thrombocytopenia	OMIM:301072
Rift Valley Fever	Thrombocytopenia, Anemia	ORPHA:319251
Nijmegen Breakage Syndrome	Hemolytic anemia, Autoimmune hemolytic anemia, Thrombocytopenia, Acute leukemia	ORPHA:647
Cornelia De Lange Syndrome 1	Thrombocytopenia	OMIM:122470
Thrombocytopenia-Absent Radius Syndrome	Eosinophilia, Leukocytosis, Hepatosplenomegaly, Anemia, Thrombocytopenia	OMIM:274000
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Osteogenesis Imperfecta	Neonatal respiratory distress, Somatic sensory dysfunction, Ataxia, Brain stem compression, Gait ...	ORPHA:666
Deeah Syndrome	Decreased hemoglobin concentration, Thrombocytopenia	OMIM:619004
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Thrombocytopenia, Increased mean platelet volume	ORPHA:487796
Doors Syndrome	Respiratory distress, EEG abnormality, Optic atrophy, Aspiration pneumonia	ORPHA:79500
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Hyponatremia, Hyperkalemia	OMIM:201810
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Cryptorchidism, Hydrocele testis, Chordee, Attention deficit hypera...	OMIM:619522
Jacobsen Syndrome	Thrombocytopenia	OMIM:147791
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:168558
Gaucher Disease	Pancytopenia, Elevated circulating C-reactive protein concentration, Splenomegaly, Anemia, Thromb...	ORPHA:355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Tremor, Self-injurious behavior, Truncal obesity, Failure to thrive, Abnormal repetitive mannerisms	OMIM:612474
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency	Hyponatremia, Hyperkalemia, Increased circulating renin level, Abnormal circulating cholesterol c...	ORPHA:289548
Mowat-Wilson Syndrome	Broad-based gait, Ataxia, Inability to walk, Cryptorchidism, Dysphagia, Hydrocele testis, Chordee...	ORPHA:2152
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Abnormal repetitive mannerisms	ORPHA:508498
Seizures, Scoliosis, And Macrocephaly/Microcephaly Syndrome	Loss of ambulation, Cryptorchidism, Unsteady gait, Abnormal repetitive mannerisms	OMIM:616682
Yellow Fever	Neutrophilia, Elevated circulating creatine kinase concentration, Leukocytosis, Elevated circulat...	ORPHA:99829
Primary Sjögren Syndrome	Normocytic anemia, Leukopenia, Normochromic anemia, Decreased proportion of CD4-positive helper T...	ORPHA:289390
Fanconi Anemia	Pyridoxine-responsive sideroblastic anemia, Leukopenia, Anemia, Thrombocytopenia	ORPHA:84
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Pancytopenia, Anemia, Leukopenia, Thrombocytopenia	OMIM:305000
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pancytopenia, Abnormality of the spleen, Splenomegaly, Hepatosplenomegaly, Anemia, Thrombocytopenia	ORPHA:2072
Proteasome-Associated Autoinflammatory Syndrome 1	Decreased HDL cholesterol concentration, Hypertriglyceridemia, Elevated circulating C-reactive pr...	OMIM:256040
Primrose Syndrome	Restlessness, Ataxia, Hypergonadotropic hypogonadism, Aggressive behavior, Bilateral cryptorchidi...	OMIM:259050
Systemic Lupus Erythematosus	Leukopenia, Hemolytic anemia, Thrombocytopenia	ORPHA:536
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
Lowe Oculocerebrorenal Syndrome	Cryptorchidism, Failure to thrive, Abnormal repetitive mannerisms, Aggressive behavior	OMIM:309000
Hardikar Syndrome	Hypersplenism, Splenomegaly, Hepatosplenomegaly, Hyperbilirubinemia, Thrombocytopenia	OMIM:301068
Jacobsen Syndrome	Thrombocytopenia	ORPHA:2308
Multiple Osteochondromas	Pneumothorax, Dysphagia, Hemothorax	ORPHA:321
Wolf-Hirschhorn Syndrome	Small for gestational age, Cryptorchidism, Failure to thrive, Abnormal repetitive mannerisms	OMIM:194190
Coffin-Siris Syndrome 12	Cryptorchidism, Failure to thrive, Abnormal repetitive mannerisms	OMIM:619325
Sarcoidosis	Hemolytic anemia, Eosinophilia, Hypercalcemia, Increased T cell count, Anemia, Leukopenia, Thromb...	ORPHA:797
Congenital Disorder Of Glycosylation, Type Iiw	Splenomegaly, Thrombocytopenia, Anemia, Microcytic anemia	OMIM:619525
Roberts Syndrome	Thrombocytopenia	ORPHA:3103
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress, Hypoplasia of the brainstem	ORPHA:480880
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Abnormal repetitive mannerisms	OMIM:301044
Coffin-Lowry Syndrome	Mitral regurgitation, Acrocyanosis, Cutis marmorata	OMIM:303600
Pallister-Killian Syndrome	Inability to walk, Hypertonia, Stillbirth, Apneic episodes in infancy, Hyperventilation	OMIM:601803
Acute Liver Failure	Hyperammonemia, Thrombocytopenia	ORPHA:90062
Vascular Ehlers-Danlos Syndrome	Hypokalemia	ORPHA:286
Igg4-Related Dacryoadenitis And Sialadenitis	Thrombocytopenia	ORPHA:79078
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Abnormal pons morphology, Recurrent pneumonia	ORPHA:99646
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Broad-based gait, Inability to walk, Cryptorchidism, Bruxism, Hydrocele testis, Chordee, Dysphagi...	ORPHA:261537
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency	Hyponatremia, Hyperkalemia, Hypochloremia	ORPHA:90794
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Broad-based gait, Inability to walk, Cryptorchidism, Bruxism, Hydrocele testis, Chordee, Dysphagi...	ORPHA:261552
Alström Syndrome	Respiratory distress, Dorsocervical fat pad, Chronic pulmonary obstruction, Recurrent pneumonia, ...	ORPHA:64
Noonan Syndrome 1	Amegakaryocytic thrombocytopenia, Juvenile myelomonocytic leukemia	OMIM:163950
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hyponatremia, Hyperkalemia, Decreased circulating renin level	OMIM:201750
Pmm2-Cdg	Respiratory distress, Abnormal subcutaneous fat tissue distribution, Aspiration pneumonia	ORPHA:79318

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 Grin1

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 Grin1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Grin1^{tm1a(EUCOMM)Wtsi}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Grin1^{tm1a(EUCOMM)Wtsi}	PMC6459510
NMDA Receptors Regulate the Development of Neuronal Intrinsic Excitability through Cell-Autonomous Mechanisms.	Frontiers in cellular neuroscience (November 2017)	Grin1^{tm1c(EUCOMM)Wtsi}	PMC5674002
Essential role of postsynaptic NMDA receptors in developmental refinement of excitatory synapses.	Proceedings of the National Academy of Sciences of the United States of America (December 2012)	Grin1^{tm1c(EUCOMM)Wtsi} Grin1^{tm1a(EUCOMM)Wtsi}	PMC3549111

Order Mouse and ES Cells

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

MGI Allele	Allele Type	Produced
Grin1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Grin1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Grin1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Grin1^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Grin1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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