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Gene: Erbb3 MGI:95411

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

erb-b2 receptor tyrosine kinase 3

Synonyms:

HER3, Erbb3r, Erbb-3

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Erbb3 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 Erbb3 (4 diseases)
Human diseases predicted to be associated with Erbb3 (877 diseases)

The table below shows human diseases associated to Erbb3 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon...	OMIM:243180
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th...	ORPHA:388
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180

The table below shows human diseases predicted to be associated to Erbb3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Athetosis, Axonal loss, Gliosis, Dystonia	OMIM:300857
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Hypoplasia of the brainstem, Lissencephaly...	OMIM:607432
Monomelic Amyotrophy	Degeneration of anterior horn cells, Tremor, Abnormality of peripheral nerve conduction	ORPHA:65684
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Gray matter h...	OMIM:604213
Krabbe Disease, Atypical, Due To Saposin A Deficiency	Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Respira...	OMIM:611722
Cortical Dysplasia, Complex, With Other Brain Malformations 10	Hypoplasia of the pons, Hypoplasia of the brainstem, Lissencephaly, Cerebellar hypoplasia, Perive...	OMIM:618677
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis	OMIM:612577
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler...	OMIM:602433
Congenital Arthrogryposis With Anterior Horn Cell Disease	Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Paucity of anterior horn mo...	OMIM:611890
Hereditary Motor And Sensory Neuropathy, Okinawa Type	Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c...	ORPHA:90117
Developmental And Epileptic Encephalopathy 71	Simplified gyral pattern, Respiratory insufficiency, Cheyne-Stokes respiration, Respiratory failu...	OMIM:618328
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Aganglionic megacolon, Optic nerve hypopl...	ORPHA:171680
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy, Gliosis,...	OMIM:105550
Corpus Callosum, Partial Agenesis Of, X-Linked	Aganglionic megacolon, Hydrocephalus, Partial agenesis of the corpus callosum, High palate, Cereb...	OMIM:304100
Combined Oxidative Phosphorylation Deficiency 51	Neonatal respiratory distress, Small for gestational age, Optic atrophy, Cerebral atrophy, Respir...	OMIM:619057
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy, Respiratory insufficiency	OMIM:617892
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Lissencephaly 3	Cerebellar vermis hypoplasia, Agyria, Periventricular laminar heterotopia, Gray matter heterotopi...	OMIM:611603
Pontocerebellar Hypoplasia, Type 1C	Respiratory insufficiency, Respiratory failure, Death in childhood, Failure to thrive, Cerebral c...	OMIM:616081
Pontocerebellar Hypoplasia Type 1	Peripheral axonal neuropathy, Optic atrophy, Congenital laryngeal stridor, Degeneration of anteri...	ORPHA:2254
Amyotrophic Lateral Sclerosis 19	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:615515
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Hypoplasia of the brainstem, Agenesis of corpus ...	ORPHA:370959
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy	Degeneration of anterior horn cells, Facial palsy, Respiratory insufficiency due to muscle weakne...	OMIM:159950
Microlissencephaly	Cerebellar atrophy, Subcortical heterotopia, Periventricular heterotopia, Simplified gyral patter...	ORPHA:1083
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria, Cerebellar vermis hypoplasia	OMIM:614173
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Occipital encephalocele, Type II lissencephaly, Hydrocephalus, Optic atrophy, Gray matter heterot...	ORPHA:352682
Spinal Muscular Atrophy, X-Linked 2	Facial palsy, Respiratory insufficiency due to muscle weakness, Decreased compound muscle action ...	OMIM:301830
Congenital Muscular Dystrophy Without Intellectual Disability	Cerebellar atrophy, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle...	ORPHA:370980
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Hypoplasia of the pons, Precocious puberty, Perisylvian polymicrogy...	ORPHA:280195
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1	Peripheral axonal degeneration, Small for gestational age, Decreased nerve conduction velocity, A...	OMIM:604320
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Optic atrophy, Cerebellar hypoplasia	OMIM:618572
Neuropathy, Hereditary Motor And Sensory, Okinawa Type	Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Degener...	OMIM:604484
Burning Mouth Syndrome	Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials	ORPHA:353253
Pure Autonomic Failure	Abnormality of circulating catecholamine level, Abnormal autonomic nervous system physiology, Ort...	ORPHA:441
Cardiomyopathy, Dilated, 1R	Increased left ventricular end-diastolic volume, Congestive heart failure, Myofiber disarray, Dil...	OMIM:613424
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory insufficiency ...	OMIM:602099
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Lissencephaly 5	Occipital encephalocele, Cerebellar vermis hypoplasia, Hydrocephalus, Subcortical band heterotopi...	OMIM:615191
Pontocerebellar Hypoplasia, Type 1A	Respiratory insufficiency, Hand tremor, Degeneration of anterior horn cells, Intercostal muscle w...	OMIM:607596
Spinal Muscular Atrophy, Type Ii	Degeneration of anterior horn cells, Hand tremor	OMIM:253550
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613435
Ceroid Lipofuscinosis, Neuronal, 10	Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Cerebral atrophy, Resp...	OMIM:610127
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Weakness of muscles of respiration, Cranial nerve compression, Abn...	ORPHA:52430
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency	Congenital adrenal hyperplasia, Increased circulating ACTH level	OMIM:613571
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:616437
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi...	OMIM:614399
Leigh Syndrome	Optic atrophy, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Gliosis, ...	OMIM:256000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Respiratory failure	OMIM:613954
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Flexion contracture, Abnormal left ven...	OMIM:613155
Amyotrophic Lateral Sclerosis	Amyotrophic lateral sclerosis, Motor neuron atrophy, Dyspnea, Abnormal respiratory system physiol...	ORPHA:803
Joubert Syndrome With Ocular Defect	Encephalocele, Abnormality of the hypothalamus-pituitary axis, Cerebellar vermis hypoplasia, Agan...	ORPHA:220493
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Achilles tendon contracture, Elbow flexion contracture, Abnormality of neuronal mig...	OMIM:608840
Attrv122I Amyloidosis	Abnormal EKG, Angina pectoris, Abnormal atrioventricular conduction, Restrictive cardiomyopathy, ...	ORPHA:85451
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Nemaline Myopathy 8	Death in infancy, Respiratory failure, Facial palsy	OMIM:615348
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:608030
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Hydrocephalus, Abnormality of neuronal migration, Ventriculomegaly	OMIM:618709
Hereditary Methemoglobinemia	Cerebellar atrophy, Cyanosis, Small for gestational age, Temporal cortical atrophy, Athetosis, Li...	ORPHA:621
Left Ventricular Noncompaction 1	Noncompaction cardiomyopathy, Atrial fibrillation, Ventricular septal defect, Left ventricular no...	OMIM:604169
Combined Oxidative Phosphorylation Deficiency 20	Hypertrophic cardiomyopathy, Left ventricular noncompaction, Cerebellar hypoplasia	OMIM:615917
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction	Increased left ventricular end-diastolic volume, Sudden cardiac death, Congestive heart failure, ...	OMIM:601493
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency	Death in infancy, Apnea, Atrophy/Degeneration affecting the brainstem, Respiratory failure, Brain...	OMIM:616277
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis	OMIM:612069
Cardiomyopathy, Dilated, 1Gg	Congestive heart failure, Dilated cardiomyopathy, Reduced left ventricular ejection fraction, Lef...	OMIM:613642
X-Linked Lissencephaly With Abnormal Genitalia	Ventricular septal defect, Aganglionic megacolon, Malabsorption, Cryptorchidism, Patent ductus ar...	ORPHA:452
Spinal Muscular Atrophy, Type Iii	Degeneration of anterior horn cells, Hand tremor	OMIM:253400
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis	OMIM:614373
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy, Polymicrogyria	OMIM:617757
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction...	OMIM:606070
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Enlarged sylvian cistern, Gray matter heterotopia, Pachygyria, Agyria, Ventriculomegaly	ORPHA:1084
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Periventricular heterotopia, Hypoplasia of the pons, Parti...	OMIM:616171
Joubert Syndrome 14	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Ventricular septal de...	OMIM:614424
Coach Syndrome 2	Cerebellar vermis hypoplasia, Congenital hepatic fibrosis, Hydrocephalus, Hypertension, Portal fi...	OMIM:619111
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cerebellar dysplasia, Ventriculomegaly, Agenesis of cerebellar vermis, Type II lissencephaly, Hyp...	OMIM:613153
Marcus-Gunn Syndrome	Abnormal fifth cranial nerve morphology	ORPHA:91412
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction	Atrial fibrillation, Cardiac arrest, Myofiber disarray, Dilated cardiomyopathy, Atrioventricular ...	OMIM:612158
Spinal Muscular Atrophy, Type I	Respiratory failure, Respiratory insufficiency, Death in childhood	OMIM:253300
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Flexion contracture, Dilated cardiomyopathy, Optic atrophy, Ragged-red muscle fibers, Left ventri...	OMIM:252011
Left Ventricular Noncompaction 8	Left ventricular diastolic dysfunction, Congestive heart failure, Dilated cardiomyopathy, Mitral ...	OMIM:615373
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp...	DECIPHER:29
Pontocerebellar Hypoplasia, Type 4	Death in infancy, Respiratory failure, Gliosis	OMIM:225753
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Tremor, Respiratory failure, Cerebral atrophy	OMIM:618637
Joubert Syndrome 18	Occipital encephalocele, Agenesis of cerebellar vermis, Ventricular septal defect, Cleft palate, ...	OMIM:614815
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Joubert Syndrome	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Situs inversus totalis, Hydro...	ORPHA:475
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Respiratory insufficiency due to muscle weakness, Respiratory failure, Death in adolescence	OMIM:300717
Joubert Syndrome With Renal Defect	Encephalocele, Abnormality of the hypothalamus-pituitary axis, Cerebellar vermis hypoplasia, Agan...	ORPHA:220497
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Lipoid Congenital Adrenal Hyperplasia	Congenital adrenal hyperplasia, Adrenogenital syndrome	OMIM:201710
Joubert Syndrome 30	Cerebellar atrophy, Dandy-Walker malformation, Gray matter heterotopia, Molar tooth sign on MRI, ...	OMIM:617622
Left Ventricular Noncompaction 10	Increased left ventricular end-diastolic volume, Congestive heart failure, Dilated cardiomyopathy...	OMIM:615396
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis	OMIM:619141
Orofaciodigital Syndrome Xv	Cerebellar vermis hypoplasia, Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callo...	OMIM:617127
3C Syndrome	Adrenal hypoplasia, High, narrow palate, Abnormal tricuspid valve morphology, Gastroesophageal re...	ORPHA:7
Pheochromocytoma/Paraganglioma Syndrome 6	Elevated circulating catecholamine level, Paraganglioma	OMIM:618464
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Respiratory insufficiency due to muscle weakness, Tremor,...	ORPHA:2590
Left Ventricular Noncompaction 7	Left ventricular noncompaction, Left ventricular noncompaction cardiomyopathy	OMIM:615092
Hyperaldosteronism, Familial, Type I	Adrenal hyperplasia, Hyperaldosteronism, Adrenogenital syndrome, Decreased circulating renin level	OMIM:103900
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Meckel Syndrome, Type 4	Encephalocele, Atrial septal defect, Agenesis of cerebellar vermis, Ventricular septal defect, Hy...	OMIM:611134
Joubert Syndrome 3	Enlarged fossa interpeduncularis, Atrial septal defect, Cerebellar vermis hypoplasia, Frontal pol...	OMIM:608629
Polymicrogyria Due To Tubb2B Mutation	Cerebellar atrophy, Hypoplasia of the pons, Perisylvian polymicrogyria, Abnormal brainstem morpho...	ORPHA:300573
Slc35A2-Cdg	Cerebellar atrophy, Limb joint contracture, Abnormal midbrain morphology, Camptodactyly of finger...	ORPHA:356961
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Muscular Dystrophy, Congenital, 1B	Respiratory failure, Facial palsy	OMIM:604801
Frontotemporal Dementia	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system	OMIM:600274
Atrial Standstill	Skeletal muscle atrophy, Flexion contracture, Ventricular tachycardia, Mobitz I atrioventricular ...	ORPHA:1344
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Reduce...	ORPHA:266
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Abnormality of...	ORPHA:2318
Congenital Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Gliosis, Pachygyria	ORPHA:168486
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Cyanosis, Tachypnea, Respiratory failure, Cough, Failure to thrive	OMIM:263000
X-Linked Complicated Corpus Callosum Dysgenesis	Aganglionic megacolon, Cerebellar hypoplasia	ORPHA:1497
Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Postural tremor	OMIM:608627
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis	OMIM:614808
Hemimegalencephaly	Abnormal neuron morphology, Optic atrophy, Gray matter heterotopia, Gliosis, Pachygyria, Polymicr...	ORPHA:99802
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Abnormal heart morphology, Colpocephaly...	ORPHA:2185
Bullous Dystrophy, Hereditary Macular Type	Acrocyanosis, Death in childhood	OMIM:302000
Neuropathy, Congenital Hypomyelinating, 3	Cerebellar atrophy, Decreased motor nerve conduction velocity, Cachexia, Respiratory insufficienc...	OMIM:618186
Pigmented Nodular Adrenocortical Disease, Primary, 3	Increased circulating cortisol level, Adrenal hyperplasia	OMIM:614190
Gómez-López-Hernández Syndrome	Abnormal cerebellum morphology, Hydrocephalus, Cerebellar vermis hypoplasia, Abnormal brainstem m...	ORPHA:1532
Acalvaria	Spina bifida, Hydrocephalus, Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, ...	ORPHA:945
Rhombencephalosynapsis	Fusion of the cerebellar hemispheres, Septo-optic dysplasia, Agenesis of cerebellar vermis, Agang...	ORPHA:59315
L1 Syndrome	Aqueductal stenosis, Skeletal muscle atrophy, Hydrocephalus, Aganglionic megacolon	ORPHA:275543
Neuromyelitis Optica Spectrum Disorder	Respiratory failure, Neuronal loss in central nervous system, Peripheral demyelination, Myelitis	ORPHA:71211
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Cerebellar atrophy, Optic disc pallor, Tachypnea, Cerebral atrophy, Death in childhood, Respirato...	OMIM:615838
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Tachycardia, Ventricular septal defect, Aganglionic megacolon, Patent ductus arteriosus, Flexion ...	OMIM:613870
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis	OMIM:615426
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy	Cerebellar atrophy, Peripheral axonal neuropathy, Tremor, Cerebellar gliosis, Optic atrophy, Resp...	OMIM:616505
Congenital Muscular Dystrophy With Intellectual Disability	Respiratory failure, Facial palsy, Cerebral cortical atrophy, Respiratory insufficiency	ORPHA:370968
Autoimmune Polyendocrinopathy Type 1	Hypoparathyroidism, Adrenal hyperplasia, Primary adrenal insufficiency, Abnormal circulating calc...	ORPHA:3453
Neurotrophic Keratopathy	Abnormal fifth cranial nerve morphology	ORPHA:137596
Walker-Warburg Syndrome	Skeletal muscle atrophy, Ventriculomegaly, Abnormal cortical gyration, Cryptorchidism, Hydrocepha...	ORPHA:899
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related	Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency	OMIM:613869
Multiple Mitochondrial Dysfunctions Syndrome 3	Optic atrophy, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Polymicrogyria	OMIM:615330
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Ventricular septal defect, Cryptorchidism, Abnormality of neuronal migration, Hypoplastic left he...	ORPHA:2772
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)	Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Cerebral atrophy, Res...	OMIM:245400
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Cyanosis, Crackles, Nonproductive cough, Dyspnea, W...	ORPHA:1302
Perching Syndrome	Respiratory distress, Cyanosis	OMIM:617055
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Postsynaptic Congenital Myasthenic Syndromes	Orthopnea, Reduced vital capacity, Cyanosis, Facial palsy, Decreased size of nerve terminals, Res...	ORPHA:98913
Glycine Encephalopathy 2	Respiratory failure	OMIM:620398
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Generalized dystonia, Head...	OMIM:205100
Pyruvate Dehydrogenase E1-Alpha Deficiency	Small for gestational age, Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fat...	OMIM:312170
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome	Acrocyanosis	ORPHA:86918
Toriello-Carey Syndrome	Aganglionic megacolon, Cryptorchidism, Patent ductus arteriosus, Partial agenesis of the corpus c...	ORPHA:3338
Congenital Alveolar Capillary Dysplasia	Absent gallbladder, Bicuspid aortic valve, Aganglionic megacolon, Ventricular septal defect, Inte...	ORPHA:210122
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Hepatomegaly, Telangiectasia of the skin, Optic atrophy, Abnormal brainstem morphology, Telangiec...	ORPHA:79279
Spinocerebellar Ataxia Type 1	Cerebellar atrophy, Postural tremor, Atrophy/Degeneration affecting the brainstem, Optic atrophy,...	ORPHA:98755
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hypoplasia o...	OMIM:615181
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress, Failure to thrive, Cyanosis	ORPHA:91130
Triosephosphate Isomerase Deficiency	Respiratory distress, Optic disc pallor, Death in infancy, Tremor, Respiratory insufficiency due ...	OMIM:615512
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Malformation of the hepatic ductal plate, Anen...	OMIM:614175
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome	Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Vestibular arefle...	ORPHA:3240
Lissencephaly Syndrome, Norman-Roberts Type	Cerebellar atrophy, 4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephal...	ORPHA:89844
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Dyspnea, Tachypnea, Respiratory...	OMIM:265120
Juvenile Amyotrophic Lateral Sclerosis	Axial dystonia, Amyotrophic lateral sclerosis, Cachexia, Head titubation, Opisthotonus, Arm dysto...	ORPHA:300605
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Aspiration, Amyotrophic lateral sclerosis, Respiratory insuf...	ORPHA:600
Spinal Muscular Atrophy, Type Iv	Degeneration of anterior horn cells, Hand tremor	OMIM:271150
Bresek Syndrome	Aganglionic megacolon, Optic nerve hypoplasia, Cryptorchidism, Hydrocephalus, Cleft palate, Neona...	ORPHA:85284
Phosphoserine Aminotransferase Deficiency	Death in infancy, Cyanotic episode, Apnea	OMIM:610992
Coach Syndrome 1	Encephalocele, Optic disc pallor, Hepatomegaly, Cerebellar vermis hypoplasia, Occipital encephalo...	OMIM:216360
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture, Cerebellar hypoplasia	OMIM:617562
Venular Insufficiency, Systemic	Cyanosis	OMIM:192700
Sulfhemoglobinemia, Congenital	Cyanosis	OMIM:185460
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Familial Hyperaldosteronism Type Ii	Adrenal hyperplasia, Glucocortocoid-insensitive primary hyperaldosteronism, Abnormal circulating ...	ORPHA:404
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Hypertrophic cardiomyopathy, Left ventricular non...	OMIM:617228
Butyrylcholinesterase Deficiency	Respiratory failure requiring assisted ventilation, Respiratory failure	ORPHA:132
Multiple Mitochondrial Dysfunctions Syndrome 1	Death in infancy, Failure to thrive, Respiratory insufficiency, Opisthotonus, Respiratory failure...	OMIM:605711
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology, Respiratory distress...	ORPHA:1145
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Classic Glucose Transporter Type 1 Deficiency Syndrome	Choreoathetosis, Central apnea, Cyanosis, Dystonia	ORPHA:71277
Methemoglobinemia, Beta Type	Cyanosis	OMIM:617971
Methemoglobinemia, Alpha Type	Cyanosis	OMIM:617973
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Peripheral axonal neuropathy, Neonatal respiratory distress, Abnormal cortical gyration, Patent d...	OMIM:616867
Periventricular Nodular Heterotopia 1	Bicuspid aortic valve, Cerebral hemorrhage, Patent ductus arteriosus, Abnormality of neuronal mig...	OMIM:300049
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Failure to thrive in infancy, Respiratory insufficiency due to muscle weakn...	ORPHA:254875
Mitochondrial Complex Ii Deficiency, Nuclear Type 3	Optic disc pallor, Hepatomegaly, Tricuspid regurgitation, Left ventricular systolic dysfunction, ...	OMIM:619167
Hepatic Veno-Occlusive Disease	Jaundice, Increased body weight, Respiratory failure	ORPHA:890
Neuralgic Amyotrophy	Acrocyanosis, Respiratory insufficiency	ORPHA:2901
Bilateral Striopallidodentate Calcinosis	Hepatomegaly, Abnormality of the liver, Abnormality of neuronal migration, Ventriculomegaly	ORPHA:1980
Seizures, Benign Familial Infantile, 3	Cyanosis, Apnea	OMIM:607745
Mitochondrial Complex Iv Deficiency, Nuclear Type 13	Aortic regurgitation, Tricuspid regurgitation, Patent ductus arteriosus, Reduced left ventricular...	OMIM:616501
Acth-Independent Macronodular Adrenal Hyperplasia	Adrenal hyperplasia, Decreased circulating ACTH concentration, Increased circulating cortisol lev...	OMIM:219080
Hsd10 Disease, Infantile Type	Diffuse cerebral atrophy, Cyanosis, Optic atrophy, Cerebral atrophy, Frontotemporal cerebral atro...	ORPHA:391428
Familial Hyperaldosteronism Type I	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:403
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Ventriculomegaly, Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Type II...	OMIM:614643
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Cerebellar atrophy, Peripheral axonal neuropathy, Substan...	ORPHA:276244
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatatio...	OMIM:600348
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome	Ventricular septal defect, Hydrocephalus, Mitral regurgitation, Abnormal cardiac septum morpholog...	ORPHA:83473
Holoprosencephaly 14	Cerebellar atrophy, Ventriculomegaly, Ventricular septal defect, Alobar holoprosencephaly, Aquedu...	OMIM:619895
Seizures, Benign Familial Infantile, 1	Cyanosis, Apnea	OMIM:601764
Mitochondrial Complex I Deficiency, Nuclear Type 18	Optic disc pallor, Respiratory failure, Death in infancy	OMIM:618240
Asbestos Intoxication	Reduced vital capacity, Cyanosis, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wh...	ORPHA:2302
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:201910
Hyperekplexia 4	Respiratory failure, Cerebral atrophy	OMIM:618011
Lissencephaly 6 With Microcephaly	Cerebellar atrophy, Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplif...	OMIM:616212
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Fryns Syndrome	Dandy-Walker malformation, Aganglionic megacolon, Intestinal malrotation, Congenital diaphragmati...	ORPHA:2059
Laryngotracheal Angioma	Respiratory distress, Cyanosis, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5	Cerebellar atrophy, Facial palsy, Restrictive ventilatory defect, Respiratory failure, Pachygyria	OMIM:606612
Congenital Myopathy 14	Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea	OMIM:618414
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Skeletal muscle atrophy, Flexion contracture, Hypoplasia of the brainstem, Holoprosencephaly, Atr...	OMIM:253800
Severe Neurodegenerative Syndrome With Lipodystrophy	Reduced subcutaneous adipose tissue, Caudate atrophy, Tremor, Cerebral atrophy, Respiratory failu...	ORPHA:363400
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Cyanosis, Apnea, Nonspecif...	OMIM:610921
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Cleft palate, Molar tooth sign on MRI, Agenesis of corpus callosum, V...	OMIM:614120
Leber Congenital Amaurosis	Encephalocele, Abnormal optic disc morphology, Abnormality of neuronal migration, Aplasia/Hypopla...	ORPHA:65
Chronic Pneumonitis Of Infancy	Respiratory distress, Cyanosis, Intercostal retractions, Reduced forced vital capacity, Tachypnea...	ORPHA:91359
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect	Ventricular septal defect, Aganglionic megacolon	OMIM:235750
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency	Decreased circulating cortisol level, Bilateral cryptorchidism, Male hypogonadism, Decreased circ...	ORPHA:90793
Pneumocystosis	Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins...	ORPHA:723
Vici Syndrome	Hypoplasia of the pons, Optic atrophy, Cardiomyopathy, Gray matter heterotopia, High palate, Cere...	ORPHA:1493
Intellectual Developmental Disorder, X-Linked 12	Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Cryptorchidism, Abnormality of neur...	OMIM:300957
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Cerebellar vermis hypoplasia, Periventricular heterotopia, Simplified gyral pattern, Hypoplasia o...	OMIM:618273
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Agenesis of cerebellar vermis, Brainstem dysplas...	OMIM:608091
Joubert Syndrome 1	Enlarged fossa interpeduncularis, Optic disc pallor, Agenesis of cerebellar vermis, Cerebellar ve...	OMIM:213300
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Cerebellar-Facial-Dental Syndrome	Ventricular septal defect, Abnormal midbrain morphology, Foot joint contracture, Hypoplasia of th...	ORPHA:444072
Vacterl Association With Hydrocephalus	Aqueductal stenosis, Hydrocephalus, Abnormal heart morphology, Stillbirth, Anal atresia	OMIM:276950
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Small for gestational age, Cerebral atrophy, Opisthotonus, Death in childhood, Respiratory failur...	OMIM:619847
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Hydrocephalus, Cleft palate, Abnormal heart morphology, Anteriorly placed ...	OMIM:239300
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability	Respiratory failure	OMIM:600561
Intermediate Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171433
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Colonic diverticula, Intestinal pseudo-obstruction, Intestinal malrotation, Aganglionic megacolon...	OMIM:243180
American Trypanosomiasis	Hepatomegaly, Aganglionic megacolon, Myocarditis, Splenomegaly, Congestive heart failure, Cardiom...	ORPHA:3386
Neurooculorenal Syndrome	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased circulating cortisol level, ...	OMIM:620305
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Abnormal cerebellum morphology, Agenesis of corpus callosum, Abnormal brainstem morphology, Ventr...	ORPHA:255182
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Hepatomegaly, Cerebellar vermis hypoplasia, Cardiomegaly, Heart block, High, narrow palate, Hydro...	ORPHA:228308
Alkuraya-Kucinskas Syndrome	Pericardial effusion, Hydrocephalus, Gray matter heterotopia, Hypoplasia of the brainstem, Campto...	OMIM:617822
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Meckel diverticulum, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, ...	ORPHA:163961
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Cyanosis, Spontaneous pneumothorax, Nonspecific interstitial pneumonia, Red...	OMIM:610913
Dietary Iron Overload Disease	Hepatomegaly, Viral hepatitis, Diabetes mellitus, Hepatocellular carcinoma, Congestive heart fail...	ORPHA:139507
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Aqueductal stenosis, Asplenia, Biliary atresia, Dextrotransposition of the great ar...	OMIM:306955
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency	Adrenal hyperplasia, Adrenogenital syndrome	OMIM:202110
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Cerebellar vermis hypoplasia, Supernumerary nipple, Ab...	ORPHA:397715
Chiari Malformation Type Ii	Cyanosis, Spina bifida, Opisthotonus, Cervical myelopathy, Gray matter heterotopia, Syringomyelia...	OMIM:207950
Pigmented Nodular Adrenocortical Disease, Primary, 4	Primary hypercortisolism, Increased circulating cortisol level, Diabetes mellitus, Adrenal hyperp...	OMIM:615830
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Sick Sinus Syndrome 2	Aortic regurgitation, Paroxysmal atrial fibrillation, Atrial fibrillation, Cardiac arrest, Sudden...	OMIM:163800
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria	OMIM:300067
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp...	OMIM:614299
Renal Hypodysplasia/Aplasia 4	Respiratory failure	OMIM:619887
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Carnitine Palmitoyltransferase Ii Deficiency	Hepatomegaly, Cerebellar vermis hypoplasia, Hydrocephalus, Rhabdomyolysis, Abnormality of neurona...	ORPHA:157
Pseudo-Torch Syndrome 2	Hepatomegaly, Cerebral hemorrhage, Secundum atrial septal defect, Patent ductus arteriosus, Gray ...	OMIM:617397
Acth-Independent Macronodular Adrenal Hyperplasia 2	Increased urinary cortisol level, Decreased circulating ACTH concentration, Increased circulating...	OMIM:615954
Thanatophoric Dysplasia Type 2	Encephalocele, Patent ductus arteriosus, Hydrocephalus, Abnormality of neuronal migration, Holopr...	ORPHA:93274
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis, Colon cancer	OMIM:619101
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:615911
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
Arima Syndrome	Dilated fourth ventricle, Hepatomegaly, Agenesis of cerebellar vermis, Cerebellar vermis hypoplas...	OMIM:243910
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Hydrocephalus, Optic atrophy, Simplified gyral pattern, Gray matter ...	OMIM:615219
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, S...	OMIM:615948
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Atrial septal defect, Cerebellar vermis hypoplasia, Hamartoma of tongue, Congenital diaphragmatic...	OMIM:616546
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Cerebellar vermis hypoplasia, Hypopla...	OMIM:610688
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Cryptorchidism, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heteroto...	OMIM:604317
Combined Oxidative Phosphorylation Deficiency 28	Respiratory failure	OMIM:616794
Primary Pulmonary Hypoplasia	Neonatal respiratory distress, Cyanosis, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restr...	ORPHA:2257
Pettigrew Syndrome	Cerebellar vermis hypoplasia, Aqueductal stenosis, Hydrocephalus, Flexion contracture, Optic atro...	OMIM:304340
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Oculogastrointestinal Muscular Dystrophy	Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Skeletal muscle at...	ORPHA:1876
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern	ORPHA:411493
Growth Hormone Deficiency, Isolated Partial	Postnatal growth retardation, Small pituitary gland, Decreased response to growth hormone stimula...	OMIM:615925
Pelizaeus-Merzbacher Disease, Connatal Form	Macrogyria, Titubation, Respiratory failure, Gliosis, Failure to thrive	ORPHA:280210
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Cerebellar atrophy, Exaggerated startle response, Tremor, Patent ductus arteriosus, Respiratory f...	OMIM:620327
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Familial Hyperaldosteronism Type Iii	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Dexamethasone-suppres...	ORPHA:251274
Goldberg-Shprintzen Megacolon Syndrome	Cleft palate, Pachygyria, Aganglionic megacolon, Ventriculomegaly	ORPHA:66629
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Prolonged ...	OMIM:601214
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Accessory spleen, Cerebellar vermis hypoplasia, Ventricular septal defe...	OMIM:619306
Smith-Lemli-Opitz Syndrome	Gastrointestinal dysmotility, Partial agenesis of the corpus callosum, Chiari type I malformation...	OMIM:270400
High Altitude Pulmonary Edema	Orthopnea, Cyanosis, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough	ORPHA:330012
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele, Hepatic fibrosis, Ventriculomegaly	OMIM:612285
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic	Cyanosis, Optic atrophy, Apnea, Cerebral atrophy	OMIM:261680
Tubulinopathy-Associated Dysgyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal brainstem morphology, Dysgyria, Pa...	ORPHA:467166
Combined Oxidative Phosphorylation Deficiency 11	Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death, Pachygyria...	OMIM:614922
Congenital Myopathy 21 With Early Respiratory Failure	Nocturnal hypoventilation, Dyspnea, Respiratory failure, Brain atrophy	OMIM:620326
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency	Decreased circulating cortisol level, Increased circulating androstenedione concentration, Congen...	ORPHA:90791
Mitochondrial Complex I Deficiency, Nuclear Type 10	Respiratory failure, Central hypoventilation, Optic atrophy, Apnea	OMIM:618233
Poretti-Boltshauser Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gray matter heterot...	OMIM:615960
Polyposis of gastric fundus without polyposis coli	Abnormal gastric mucosa morphology, Multiple gastric polyps	OMIM:175505
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Abcd Syndrome	Neonatal death, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal agan...	OMIM:600501
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial ...	ORPHA:68
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Global brain atrophy	OMIM:619132
Spondylometaphyseal Dysplasia, X-Linked	Respiratory failure, Respiratory insufficiency	OMIM:313420
Hyperaldosteronism, Familial, Type Iii	Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level	OMIM:613677
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Neurocutaneous Melanocytosis	Meningocele, Abnormality of neuronal migration, Intracranial hemorrhage, Chiari malformation, Apl...	ORPHA:2481
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Failure to thrive, Respiratory failure, Generalized dystonia	ORPHA:70472
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1	Torticollis, Tremor, Myelopathy, Cervical myelopathy, Bradypnea, Respiratory failure, Brain atrop...	OMIM:617186
Desmosterolosis	Intestinal malrotation, Abnormal cortical gyration, Splenomegaly, Patent ductus arteriosus, Hydro...	ORPHA:35107
Pituitary Hormone Deficiency, Combined Or Isolated, 7	Short stature, Decreased response to growth hormone stimulation test, Anterior pituitary hypoplas...	OMIM:618160
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Cleft palate, Atrial septal defect, Dandy-Walker malformation	OMIM:614207
Cardiomyopathy, Dilated, 1D	Prolonged QT interval, Increased left ventricular end-diastolic volume, Atrial fibrillation, Sudd...	OMIM:601494
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Cyanosis, Chronic pulmonary obstruction, Cough, Pulmonary arterial hyperten...	ORPHA:2414
Cardiomyopathy, Familial Hypertrophic, 27	Prolonged QT interval, Tricuspid regurgitation, Cardiac arrest, Cardiomegaly, Left ventricular di...	OMIM:618052
Periventricular Nodular Heterotopia 7	Optic disc pallor, Contracture of the proximal interphalangeal joint of the 2nd finger, Ventricul...	OMIM:617201
3-Methylglutaconic Aciduria, Type Viii	Death in infancy, Apnea, Tremor, Jaundice, Patent ductus arteriosus, Cerebral atrophy, Hypopnea, ...	OMIM:617248
Cardiomyopathy, Dilated, 2G	Aortic regurgitation, Tachycardia, Tricuspid regurgitation, Increased Z-disc width, Left atrial e...	OMIM:619897
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Aganglionic megacolon, Cleft palate, Atrial septal defect, Anal atresia, Ventricul...	OMIM:614749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hypoplasia of the brainstem, Congenital contracture, Pachygyria, Agenesi...	OMIM:236670
Pheochromocytoma/Paraganglioma Syndrome 1	Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan...	OMIM:168000
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Ventricular septal defect, Optic nerve hypoplasia, Chiari type I malform...	OMIM:615879
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Hypoventilation, Decreased body weight, Facial palsy, Respiratory insufficiency, Astrocytosis, Pu...	ORPHA:258
Joubert Syndrome 37	Hepatomegaly, Cerebellar vermis hypoplasia, Cryptorchidism, High palate, Molar tooth sign on MRI,...	OMIM:619185
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Ventricular septal defect, Aganglionic megacolon, Hypoplasia of the brainst...	OMIM:609460
Arthrogryposis Multiplex Congenita 6	Neonatal death, Death in infancy, Respiratory failure, Death in childhood	OMIM:619334
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Optic atroph...	OMIM:258450
Laryngotracheoesophageal Cleft	Neonatal respiratory distress, Cyanosis, Dyspnea, Stridor, Cough, Aspiration	ORPHA:2004
Benign Familial Infantile Epilepsy	Cyanosis, Apnea	ORPHA:306
Infantile Krabbe Disease	Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, C...	ORPHA:206436
Meckel Syndrome, Type 1	Occipital encephalocele, Adrenal hypoplasia, Asplenia, Lobulated tongue, Molar tooth sign on MRI,...	OMIM:249000
Pheochromocytoma/Paraganglioma Syndrome 3	Extraadrenal pheochromocytoma, Chemodectoma, Adrenal pheochromocytoma, Glomus jugular tumor, Para...	OMIM:605373
Obesity-Hypoventilation Syndrome	Hypoventilation, Cyanosis, Obesity	OMIM:257500
Infant Acute Respiratory Distress Syndrome	Cyanosis, Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Renal-Hepatic-Pancreatic Dysplasia 1	Asplenia, Hepatic fibrosis, Atrial septal defect, Neonatal death, Dandy-Walker malformation, Hepa...	OMIM:208540
Joubert Syndrome 22	Molar tooth sign on MRI, Agenesis of cerebellar vermis	OMIM:615665
Oculocerebrocutaneous Syndrome	Cryptorchidism, Orbital encephalocele, Cleft palate, Gray matter heterotopia, Agenesis of corpus ...	OMIM:164180
Combined Oxidative Phosphorylation Defect Type 23	Cyanosis, Stridor, Respiratory failure, Paroxysmal dyspnea, Failure to thrive	ORPHA:444013
Joubert Syndrome With Hepatic Defect	Hepatomegaly, Occipital encephalocele, Cerebellar vermis hypoplasia, Portal hypertension, Congeni...	ORPHA:1454
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Hypoxemia...	ORPHA:36238
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Hamartoma of tongue, Cleft palate, Lobulated tongue, Hypoplastic le...	OMIM:277170
Hyperinsulinemic Hypoglycemia, Familial, 2	Nesidioblastosis, Pancreatic islet-cell hyperplasia, Hyperinsulinemic hypoglycemia	OMIM:601820
Secondary Short Bowel Syndrome	Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys...	ORPHA:95427
Acute Interstitial Pneumonia	Cyanosis, Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respirato...	ORPHA:79126
Hirschsprung Disease	Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Functional abnormality of th...	ORPHA:388
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Communicating hydrocephalus, Occipital encephalocele, Ventriculomegaly, Agenesis of cerebellar ve...	OMIM:615287
Cardiomyopathy, Dilated, 1S	Tricuspid regurgitation, Bicuspid aortic valve, Sudden cardiac death, Congestive heart failure, D...	OMIM:613426
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features	Aganglionic megacolon, Anal atresia	OMIM:235760
Bohring-Opitz Syndrome	Bilateral cleft palate, Ventricular septal defect, Intestinal malrotation, Supernumerary nipple, ...	OMIM:605039
Combined Oxidative Phosphorylation Deficiency 4	Death in infancy, Respiratory failure, Polymicrogyria, Opisthotonus	OMIM:610678
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Cerebellar dysplasia, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Bicuspid aortic valve, Parachute mitral valve, Asplenia, Atrial septal defect, Neonatal death, At...	OMIM:265380
Lissencephaly 9 With Complex Brainstem Malformation	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Hypoplasia of th...	OMIM:618325
Symmetrical Thalamic Calcifications	Arrhythmia, Abnormality of neuronal migration	ORPHA:1314
Ane Syndrome	Motor neuron atrophy	ORPHA:157954
Long Qt Syndrome 15	Ventricular ectopy, 2:1 atrioventricular block, Cardiac arrest, Polymorphic ventricular tachycard...	OMIM:616249
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Hypoplasia of the pons, Aqueductal stenosis, Hydrocephalus, Cryptorchidism, Optic atrophy, Partia...	OMIM:619512
Chromosome 6Q24-Q25 Deletion Syndrome	Persistent fetal circulation, Tricuspid regurgitation, High, narrow palate, Patent ductus arterio...	OMIM:612863
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Cerebral atrophy, Syringomyelia, Dystonia, Myelitis	ORPHA:1320
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome	Adrenal hyperplasia, Dexamethasone-suppressible primary hyperaldosteronism, Abnormal circulating ...	ORPHA:369929
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor	OMIM:617121
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Central apnea, Respiratory insufficiency due to muscle weakness, Perisylvian polymicrogyria, Resp...	OMIM:618291
Cyanosis, Transient Neonatal	Jaundice, Cyanosis	OMIM:613977
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Decreased motor nerve conduction velocity, Hepatomegaly, Diabetes mellitus, Foot joint contractur...	ORPHA:456312
Spondyloepimetaphyseal Dysplasia, Krakow Type	Decreased serum insulin-like growth factor 1, Elbow contracture, Patent ductus arteriosus, Hydroc...	OMIM:618162
Fryns Syndrome	Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic megacolon, Intestinal malrotati...	OMIM:229850
Fanconi Anemia	Abnormality of the liver, High palate, Atrial septal defect, Abnormality of the hypothalamus-pitu...	ORPHA:84
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Hirschsprung Disease With Type D Brachydactyly	Aganglionic megacolon	OMIM:306980
Thanatophoric Dysplasia	Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Ventricul...	ORPHA:2655
Alg1-Cdg	Cerebellar atrophy, Respiratory failure, Cerebral atrophy	ORPHA:79327
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Cerebellar atrophy, Respiratory distress, Neonatal respiratory distress, Cyanosis, Apnea, Death i...	OMIM:618426
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia	OMIM:618161
Hirschsprung Disease-Type D Brachydactyly Syndrome	Aganglionic megacolon	ORPHA:2150
Orofaciodigital Syndrome V	Unilateral cryptorchidism, Ventricular septal defect, Aganglionic megacolon, Hamartoma of tongue,...	OMIM:174300
Neu-Laxova Syndrome	Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Abnormal cortical...	ORPHA:2671
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Failure to thrive in infancy, Cyanotic episode, Simplified gyral pattern, Lissencephaly	ORPHA:284417
Primary Unilateral Adrenal Hyperplasia	Glucocortocoid-insensitive primary hyperaldosteronism, Adrenal hyperplasia, Decreased circulating...	ORPHA:231580
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Hamartoma of tongue, Bilateral cryptorchidism, Abnormality of neuro...	ORPHA:2754
22Q11.2 Deletion Syndrome	Anorectal anomaly, Hypoplasia of the thymus, Gastroesophageal reflux, Atrial septal defect, Hypot...	ORPHA:567
Loeffler Endocarditis	Abnormal morphology of the chordae tendinae of the mitral valve, Aortic regurgitation, Pericardit...	ORPHA:75566
Pulmonary Alveolar Proteinosis, Acquired	Cyanosis, Pneumonia, Dyspnea, Inspiratory crackles, Hypoxemia, Restrictive ventilatory defect, Co...	OMIM:610910
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Aganglionic megacolon, Intraventricular hemorrhage, Hydrocephalus, Hydrocele testis, Ventriculome...	OMIM:613603
Periventricular Nodular Heterotopia	Aortic regurgitation, Abnormal heart valve morphology, Periventricular heterotopia, Pyloric steno...	ORPHA:98892
Hirschsprung Disease-Deafness-Polydactyly Syndrome	Aganglionic megacolon	ORPHA:2155
Combined Oxidative Phosphorylation Deficiency 52	Death in infancy, Respiratory failure	OMIM:619386
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Respirator...	OMIM:220110
Holoprosencephaly	Congenital diaphragmatic hernia, Abnormality of the spleen, Gastroesophageal reflux, Holoprosence...	ORPHA:2162
Ménétrier Disease	Gastrointestinal hemorrhage, Helicobacter pylori infection, Abnormal gastric mucosa morphology, M...	ORPHA:2494
Hirschsprung Disease, Susceptibility To, 1	Aganglionic megacolon, Enterocolitis	OMIM:142623
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness	Aganglionic megacolon	OMIM:235740
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Cerebellar atrophy, Dyspnea, Respiratory failure, Respiratory insufficiency due to muscle weakness	ORPHA:352447
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration, Cleft palate	ORPHA:2216
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Abnormal mitral valve morphology, Optic atrophy, Abnormality of neuronal...	ORPHA:192
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Abnormal substantia nigra mor...	ORPHA:79139
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome	Simplified gyral pattern, Acrocyanosis, Dystonia, Failure to thrive, Intention tremor	OMIM:614407
Smith-Lemli-Opitz Syndrome	Atrial septal defect, Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic ...	ORPHA:818
Perlman Syndrome	Hepatomegaly, High, narrow palate, Cryptorchidism, Hyperinsulinemia, Abnormal pancreas morphology	ORPHA:2849
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:619133
Adrenal Hyperplasia, Congenital, Due To 3-Beta-Hydroxysteroid Dehydrogenase 2 Deficiency	Adrenal hyperplasia, Cryptorchidism, Increased circulating dehydroepiandrosterone-sulfate concent...	OMIM:201810
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Cerebellar vermis hypoplasia, Abnormal brainstem morphol...	ORPHA:370997
Ciliary Dyskinesia, Primary, 5	Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat...	OMIM:608647
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer...	OMIM:606353
Spinal muscular atrophy, type I, with congenital bone fractures	Degeneration of anterior horn cells, Respiratory distress	OMIM:271225
Cerebrofacioarticular Syndrome	Anal stenosis, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Absence of pubertal deve...	ORPHA:314679
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Ventricular septal defect, Left ventricular noncompaction cardiomyopathy, Submucous cleft soft pa...	OMIM:300967
Cerebellofaciodental Syndrome	Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, Mitral valve prolapse, Cerebel...	OMIM:616202
Neurooculocardiogenitourinary Syndrome	Tricuspid regurgitation, Ventricular septal defect, Cardiomegaly, Bilateral cryptorchidism, Abnor...	OMIM:618652
Maternal Uniparental Disomy Of Chromosome 6	Hydrocele testis, Congenital adrenal hyperplasia, Increased serum testosterone level	ORPHA:96181
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Ventricular septal defect, Congenital diaphragmatic hernia, Aqueductal ste...	OMIM:154400
Igg4-Related Ophthalmic Disease	Abnormal fifth cranial nerve morphology, Eosinophilia, Abnormality of infra-orbital nerve	ORPHA:449563
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly	ORPHA:2182
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Respiratory failure	ORPHA:75840
Congenital Tracheomalacia	Neonatal respiratory distress, Cyanosis, Apnea, Intercostal retractions, Pneumonia, Productive co...	ORPHA:95430
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Increased urinary cortisol level, Paradoxical increased cortisol secretion on dexamethasone suppr...	ORPHA:189427
Immunodeficiency 54	Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:609981
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617761
Autoimmune Pulmonary Alveolar Proteinosis	Cyanosis, Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decre...	ORPHA:747
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle...	ORPHA:468631
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Skeletal muscle atrophy, Ventricular septal defect, Hydrocephalus, Knee flexion contracture, Mitr...	OMIM:603387
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Cerebral atrophy, Axonal loss, Gliosis, Abnormal upper motor neuron morphology, ...	OMIM:221770
Multiple Endocrine Neoplasia Type 2	Paraganglioma of head and neck, Aganglionic megacolon, Thyroid C cell hyperplasia, Abnormal tongu...	ORPHA:653
Piebald Trait-Neurologic Defects Syndrome	Aganglionic megacolon	ORPHA:2885
Optic Atrophy 8	Abnormal auditory evoked potentials, Optic atrophy, Prolonged somatosensory evoked potentials, Mi...	OMIM:616648
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Failure to thrive	ORPHA:2707
Alexander Disease	Diabetes mellitus, Facial palsy, Sudden cardiac death, Aqueductal stenosis, Hypothyroidism, Hydro...	ORPHA:58
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Ventricular septal defect, Pancreatic fibrosis, Hamartoma of tongue...	OMIM:263520
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency	Decreased circulating cortisol level, Adrenal hyperplasia, Increased circulating ACTH level, Abno...	ORPHA:90790
Combined Oxidative Phosphorylation Deficiency 3	Death in infancy, Optic neuropathy, Tremor, Dyspnea, Patent ductus arteriosus, Optic atrophy, Res...	OMIM:610505
Li-Ghorbani-Weisz-Hubshman Syndrome	Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Atrial septal d...	OMIM:618974
16P13.11 Microdeletion Syndrome	Ventricular septal defect, Camptodactyly of finger, Cryptorchidism, Abnormality of neuronal migra...	ORPHA:261236
Joubert Syndrome 7	Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia	OMIM:611560
Breath-Holding Spells	Cyanosis	OMIM:607578
Waardenburg Syndrome, Type 4B	Aganglionic megacolon	OMIM:613265
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Waardenburg Syndrome Type 2	Aganglionic megacolon	ORPHA:895
Waardenburg Syndrome Type 1	Meningocele, Spina bifida, Aganglionic megacolon, Cleft palate	ORPHA:894
Hirschsprung Disease, Susceptibility To, 2	Aganglionic megacolon	OMIM:600155
Hirschsprung Disease, Susceptibility To, 5	Aganglionic megacolon	OMIM:600156
Hirschsprung Disease, Susceptibility To, 4	Aganglionic megacolon	OMIM:613712
Pfeiffer Syndrome Type 2	Intestinal malrotation, Aqueductal stenosis, Hydrocephalus, Cleft palate, Chiari malformation, Hi...	ORPHA:93259
Peroxisome Biogenesis Disorder 5A (Zellweger)	High palate, Atrial septal defect, Pachygyria, Agenesis of corpus callosum, Intrahepatic biliary ...	OMIM:614866
Autoinflammation With Pulmonary And Cutaneous Vasculitis	Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis, Vasculitis in the ...	OMIM:620296
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Abnormal pituitary gland morphology, Abnormality of ...	ORPHA:314621
Pyruvate Dehydrogenase E1-Beta Deficiency	Periventricular heterotopia, Hypoplasia of the brainstem, Cerebellar hypoplasia, Pachygyria, Agen...	ORPHA:255138
Combined Oxidative Phosphorylation Deficiency 37	Cerebellar atrophy, Optic atrophy, Respiratory insufficiency, Respiratory failure, Failure to thrive	OMIM:618329
Waardenburg Syndrome, Type 3	Scapular winging, Joint contracture of the hand, Aganglionic megacolon, Camptodactyly of finger	OMIM:148820
Cartilage-Hair Hypoplasia	Hepatomegaly, Aganglionic megacolon, Malabsorption, Heart block, Abnormality of the pancreas, Apl...	ORPHA:175
Congenital Heart Block	Pleural effusion, Patent ductus arteriosus, Cyanosis, Crackles	ORPHA:60041
Waardenburg Syndrome, Type 4A	Aganglionic megacolon	OMIM:277580
Ravine Syndrome	Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin...	ORPHA:99852
Hereditary Motor And Sensory Neuropathy, Type Iic	Stridor, Respiratory failure, Decreased distal sensory nerve action potential, Intercostal muscle...	OMIM:606071
Waardenburg-Shah Syndrome	Intestinal obstruction, Aganglionic megacolon, Abnormal intestine morphology	ORPHA:897
Fixed Subaortic Stenosis	Paroxysmal atrial fibrillation, Bicuspid aortic valve, Cardiomegaly, Bacterial endocarditis, Atri...	ORPHA:3092
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Encephalocele, Hamartoma of tongue, Cryptorchidism, Patent ductus arteriosus, Cleft palate, Lobul...	OMIM:616300
Generalized Glucocorticoid Resistance Syndrome	Increased urinary cortisol level, Adrenal hyperplasia, Precocious puberty, Increased circulating ...	ORPHA:786
Dermotrichic Syndrome	Aganglionic megacolon	ORPHA:99688
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon	OMIM:619465
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Recurrent pneumonia, Opti...	ORPHA:496641
Tatton-Brown-Rahman Syndrome	Tricuspid regurgitation, Supraventricular tachycardia with an accessory connection mediated pathw...	ORPHA:404443
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Joubert Syndrome 39	Occipital encephalocele, Cerebellar vermis hypoplasia, Hypoplastic left heart, Joint contracture ...	OMIM:619562
Reynolds Syndrome	Hepatomegaly, Telangiectasia of the skin, Abnormal gastric mucosa morphology, Jaundice, Xerostomi...	ORPHA:779
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome	Optic nerve hypoplasia, Neonatal insulin-dependent diabetes mellitus, Cerebellar hypoplasia, Apla...	ORPHA:65288
Brain Small Vessel Disease 2	Intracranial hemorrhage, Subcortical heterotopia, Polymicrogyria, Ventriculomegaly	OMIM:614483
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Periventricular heterotopia, Hydrocephalus, Optic atrophy, Chiari type I malformation, Cerebellar...	OMIM:618476
Galloway-Mowat Syndrome	Camptodactyly of finger, Hiatus hernia, Aqueductal stenosis, Abnormality of neuronal migration, P...	ORPHA:2065
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Hepatomegaly, Left ventricular noncompaction cardiomyopathy, Facial palsy, Left atrial enlargemen...	OMIM:619424
Idiopathic Pulmonary Hemosiderosis	Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough, Failure to thrive	ORPHA:99931
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy	Death in infancy, Respiratory failure, Cerebral cortical atrophy	ORPHA:1194
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency	Congenital adrenal hyperplasia, Decreased circulating aldosterone level, Adrenogenital syndrome, ...	OMIM:202010
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Periventricular heterotopia, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, H...	OMIM:619833
Schinzel-Giedion Syndrome	Streak ovary, Aganglionic megacolon, Abnormal heart morphology, Chiari type I malformation, Macro...	ORPHA:798
Subependymal Nodular Heterotopia	Occipital encephalocele, Partial agenesis of the corpus callosum, Meningocele, Myelomeningocele, ...	ORPHA:101030
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Cardiomegaly, Antenatal intracerebral hemorrhage, Dilated cardiomyopathy, Increased...	OMIM:608836
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Gliosis...	ORPHA:275872
Snakebite Envenomation	Epistaxis, Angioedema, Erythema, Respiratory failure, Respiratory paralysis, Ecchymosis	ORPHA:449285
Duane-Radial Ray Syndrome	Anal stenosis, Upper limb muscle hypoplasia, Ventricular septal defect, Aganglionic megacolon, Fa...	OMIM:607323
Niemann-Pick Disease, Type C2	Death in infancy, Neonatal respiratory distress, Jaundice, Respiratory insufficiency, Death in ch...	OMIM:607625
Bohring-Opitz Syndrome	Facial hypotonia, Cardiomegaly, Optic atrophy, Bilateral wrist flexion contracture, Cleft palate,...	ORPHA:97297
Hydrocephalus, Congenital, X-Linked	Aqueductal stenosis, Hydrocephalus, Agenesis of corpus callosum	OMIM:307000
Leigh Syndrome	Cerebellar atrophy, Optic atrophy, Choreoathetosis, Athetosis, Respiratory failure, Gliosis, Dyst...	ORPHA:506
Orofaciodigital Syndrome I	Abnormal cortical gyration, Hamartoma of tongue, Pancreatic cysts, Hydrocephalus, Myelomeningocel...	OMIM:311200
Chronic Atrial And Intestinal Dysrhythmia	Ventricular escape rhythm, Atrial flutter, Atrial fibrillation, Intestinal pseudo-obstruction, Bi...	OMIM:616201
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Exertional dyspnea, Cyanosis, Opisthotonus	OMIM:250800
Cryofibrinogenemia, Familial Primary	Acrocyanosis	OMIM:123540
Multiple Acyl-Coa Dehydrogenase Deficiency	Dyspnea, Cardiorespiratory arrest, Gray matter heterotopia, Restrictive ventilatory defect, Respi...	ORPHA:26791
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Abnormal circulating pregnenolone concentration, Abnormal response to human chorionic gonadotroph...	ORPHA:95699
Central Hypoventilation Syndrome, Congenital, 3	Respiratory failure, Apnea, Central hypoventilation	OMIM:619483
Ring Chromosome 10 Syndrome	Aganglionic megacolon	ORPHA:1438
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Frontal polymicrogyria, Cerebellar vermis hypoplasia, Ventricular septal defect, Cryptorchidism, ...	OMIM:620024
16Q24.3 Microdeletion Syndrome	Ventricular septal defect, Optic nerve hypoplasia, Periventricular heterotopia, Cryptorchidism, D...	ORPHA:261250
Glycine Encephalopathy With Normal Serum Glycine	Exaggerated startle response, Optic atrophy, Apnea, Respiratory failure	OMIM:617301
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Optic disc pallor, Ventricular septal defect, Ankle flexion contracture, Cr...	ORPHA:464311
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Tricuspid regurgitation, Bicuspid aortic valve, Spina bifida, Congenital diaphragmatic hernia, Pa...	ORPHA:1120
Adult Acute Respiratory Distress Syndrome	Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level	ORPHA:70578
Laryngeal Abductor Paralysis	Stridor, Cyanosis	OMIM:150260
Dubin-Johnson Syndrome	Hepatomegaly, Abnormal gastric mucosa morphology, Jaundice, Biliary tract abnormality, Abnormalit...	ORPHA:234
Charge Syndrome	Hypogonadotropic hypogonadism, Facial palsy, Aqueductal stenosis, Cryptorchidism, Patent ductus a...	ORPHA:138
Williams Syndrome	Bicuspid aortic valve, Myocardial infarction, Cardiomegaly, Rectal prolapse, Gastroesophageal ref...	ORPHA:904
Trisomy 8P	Multiple joint contractures, Abnormal atrioventricular connection, Cryptorchidism, Hydrocephalus,...	ORPHA:264450
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Ventricular septal defect, Hypoplasia of the pons, Cryptorchidism, ...	OMIM:616975
Congenital Myasthenic Syndrome	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Cyanosis, Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle...	ORPHA:98914
Multiple Endocrine Neoplasia, Type Iia	Hyperparathyroidism, Aganglionic megacolon, Thyroid C cell hyperplasia, Hypertension, Increased c...	OMIM:171400
Mitochondrial Complex I Deficiency, Nuclear Type 1	Cerebellar atrophy, Optic disc pallor, Death in infancy, Cyanosis, Apnea, Optic neuropathy, Respi...	OMIM:252010
Cardiomyopathy, Dilated, 1Kk	Increased left ventricular end-diastolic volume, Atrial fibrillation, Congestive heart failure, D...	OMIM:615248
Joubert Syndrome 8	Optic disc pallor, Occipital encephalocele, Hepatomegaly, Prolonged neonatal jaundice, Molar toot...	OMIM:612291
Meckel Syndrome	Accessory spleen, Encephalocele, Pancreatic fibrosis, Aplasia/Hypoplasia of the tongue, Situs inv...	ORPHA:564
Bardet-Biedl Syndrome 1	Decreased testicular size, Diabetes mellitus, Aganglionic megacolon, Nephrogenic diabetes insipid...	OMIM:209900
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Congenital Multicore Myopathy With External Ophthalmoplegia	Pneumonia, Facial palsy, Abnormal respiratory system physiology, Facial diplegia, Respiratory fai...	ORPHA:98905
Dravet Syndrome	Cyanotic episode, Global brain atrophy, Action tremor	ORPHA:33069
Acquired Methemoglobinemia	Hypoxemia, Dyspnea, Cyanosis, Respiratory distress	ORPHA:464453
Orofaciodigital Syndrome Type 5	Aganglionic megacolon, Cleft soft palate, High, narrow palate, Bifid tongue, Tetralogy of Fallot,...	ORPHA:2919
Mckusick-Kaufman Syndrome	Aganglionic megacolon, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Cleft...	ORPHA:2473
Congenitally Uncorrected Transposition Of The Great Arteries	Cyanosis, Small for gestational age, Patent ductus arteriosus, Tachypnea, Hypoxemia, Failure to t...	ORPHA:860
47,Xyy Syndrome	Macroorchidism, Cryptorchidism, Hydrocephalus, Increased circulating gonadotropin level, Abnormal...	ORPHA:8
Neonatal Adrenoleukodystrophy	Primary adrenal insufficiency, Abnormality of the liver, Optic atrophy, Abnormality of neuronal m...	ORPHA:44
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum, Ventriculomegaly	ORPHA:2512
Encephalopathy, Ethylmalonic	Death in infancy, Failure to thrive, Acrocyanosis, Petechiae	OMIM:602473
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Ventricular septal defect, Hamartoma of tongue, Periventricular heterot...	ORPHA:434179
Congenital Disorder Of Deglycosylation 2	Cerebellar vermis hypoplasia, Hamartoma of tongue, Partial agenesis of the corpus callosum, Macro...	OMIM:619775
Peripartum Cardiomyopathy	Ventricular tachycardia, Left bundle branch block, Right ventricular dilatation, Abnormal T-wave,...	ORPHA:563
Proximal Spinal Muscular Atrophy	Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency due to muscle weakness,...	ORPHA:70
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Absent brainstem auditory responses, Torticollis, Aganglionic megacolon, Short-segment aganglioni...	OMIM:609136
Down Syndrome	Aganglionic megacolon, Ventricular septal defect, Protruding tongue, Complete atrioventricular ca...	OMIM:190685
Edinburgh Malformation Syndrome	Hydrocephalus, Abnormality of neuronal migration	ORPHA:1895
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Aplasia/Hypoplasia of the cerebellum, Optic atrophy, Abnormality of neuronal migration	ORPHA:2518
Jacobsen Syndrome	Ventricular septal defect, Cryptorchidism, Hydrocephalus, Pyloric stenosis, Optic atrophy, Flexio...	OMIM:147791
Tibial Muscular Dystrophy	Respiratory failure	ORPHA:609
Pfeiffer Syndrome Type 3	Intestinal malrotation, Aqueductal stenosis, Cleft palate, Chiari malformation, High palate, Anal...	ORPHA:93260
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Hypoplasia of the pons, Hydrocephalus, Agenesis of corpus callosum, Midline brainstem cleft	OMIM:617542
Metatropic Dysplasia	Peripheral axonal neuropathy, Respiratory failure, Respiratory insufficiency	OMIM:156530
Bilateral Perisylvian Polymicrogyria	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Protruding tongue, Flexion contracture...	ORPHA:98889
Down Syndrome	Aganglionic megacolon, Protruding tongue, Narrow palate, Macroglossia, Type II diabetes mellitus,...	ORPHA:870
Fallot Complex-Intellectual Disability-Growth Delay Syndrome	Severe failure to thrive, Patent ductus arteriosus, Cyanosis, Opisthotonus	ORPHA:3304
Benign Familial Neonatal Epilepsy	Circumoral cyanosis, Apnea	ORPHA:1949
Deafness-Lymphedema-Leukemia Syndrome	Respiratory failure, Bruising susceptibility, Weight loss	ORPHA:3226
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Lateral ventricle dilatation, Small pituitary gland, Dysgenesis of the cereb...	OMIM:619479
3-Methylglutaconic Aciduria Type 7	Cerebellar atrophy, Pneumothorax, Cerebral atrophy, Opisthotonus, Choreoathetosis, Respiratory fa...	ORPHA:445038
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Arrhythmia, Aganglionic megacolon	ORPHA:2151
Aicardi Syndrome	Cerebellar vermis hypoplasia, Spina bifida, Hiatus hernia, Pachygyria, Precocious puberty, Partia...	OMIM:304050
Sepsis In Premature Infants	Cyanosis, Small for gestational age, Abnormal mucociliary clearance, Dyspnea, Jaundice, Nasal fla...	ORPHA:90051
Ramos-Arroyo Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Xerostomia, Smooth tongue, Abnormal autonomic ne...	ORPHA:1051
Atrial Septal Defect 2	Aortic regurgitation, Ventricular septal defect, Dextrocardia, Patent ductus arteriosus, Mitral r...	OMIM:607941
Waardenburg Syndrome	Abnormality of the gastrointestinal tract, Intestinal obstruction, Aplasia/Hypoplasia of the colo...	ORPHA:3440
Monosomy 18Q	Left-to-right shunt, Absence of the pulmonary valve, Secundum atrial septal defect, Bilateral cry...	ORPHA:1600
Severe Congenital Nemaline Myopathy	Facial diplegia, Respiratory failure, Facial palsy	ORPHA:171430
Dextrocardia	Meckel diverticulum, Abnormal EKG, Dextrocardia, Intestinal malrotation, Situs inversus totalis, ...	ORPHA:1666
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Cerebral atrophy, Respiratory failure, Stillbirth	OMIM:259720
Hyperphosphatasia-Intellectual Disability Syndrome	Aganglionic megacolon, Supernumerary nipple, Telangiectasia, Anteriorly placed anus, High palate,...	ORPHA:247262
Acromelic Frontonasal Dysostosis	Encephalocele, Optic nerve hypoplasia, Periventricular nodular heterotopia, Cryptorchidism, Cleft...	OMIM:603671
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cerebellar atrophy, Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Ventric...	OMIM:620066
Distal 16P11.2 Microdeletion Syndrome	Aganglionic megacolon	ORPHA:261222
Aceruloplasminemia	Abnormal dentate nucleus morphology, Torticollis, Diabetes mellitus, Congestive heart failure, Ab...	ORPHA:48818
Opitz-Kaveggia Syndrome	Anal stenosis, Multiple joint contractures, Intestinal malrotation, Cryptorchidism, Hydrocephalus...	OMIM:305450
Hypoadrenocorticism, Familial	Cyanosis, Apnea	OMIM:240200
Pulmonary Alveolar Microlithiasis	Cyanosis, Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneum...	ORPHA:60025
Joubert Syndrome 33	Molar tooth sign on MRI, Splenomegaly	OMIM:617767
Mercury Poisoning	Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis, Dystonia	ORPHA:330021
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Reduced vital capacity, Respiratory failure, Nocturnal hypoventilation	OMIM:603689
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Fa...	ORPHA:79138
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Tricuspid regurgitation, Ventricular septal defect, Periventricular heterotopia...	OMIM:618870
Choanal Atresia	Respiratory distress, Cyanosis, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abno...	ORPHA:137914
Tricuspid Atresia	Cyanosis	ORPHA:1209
Cushing Disease	Increased urinary cortisol level, Adrenal hyperplasia, Diabetes mellitus, Paradoxical increased c...	ORPHA:96253
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Cerebellar atrophy, Cyanosis, Apnea, Opisthotonus, Choreoathetosis	OMIM:619580
Thanatophoric Dysplasia Type 1	Patent ductus arteriosus, Hydrocephalus, Gray matter heterotopia, Atrial septal defect, Ventricul...	ORPHA:1860
Coach Syndrome 3	Molar tooth sign on MRI, Portal fibrosis	OMIM:619113
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Mitochondrial Phosphate Carrier Deficiency	Cyanosis, Respiratory insufficiency	OMIM:610773
Wolfram Syndrome	Gastrointestinal hemorrhage, Diabetes mellitus, Malabsorption, Abnormal mesentery morphology, Opt...	ORPHA:3463
Scedosporiosis	Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory...	ORPHA:449280
Jacobsen Syndrome	Ventricular septal defect, Intestinal malrotation, Spina bifida, Cryptorchidism, Pyloric stenosis...	ORPHA:2308
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Secundum atrial septal defect, Primum atrial ...	OMIM:619534
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome	Aqueductal stenosis, Splenomegaly, Intestinal malrotation	ORPHA:3035
Alobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93926
Lobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:93924
Semilobar Holoprosencephaly	Diabetes insipidus, Decreased response to growth hormone stimulation test, Abnormality of the end...	ORPHA:220386
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Gray matter heterotopia, Hamartoma of tongue, Ventriculomegaly	OMIM:617563
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Palmoplantar cutis laxa...	OMIM:616482
Partial Atrioventricular Septal Defect	Atrial flutter, Bicuspid aortic valve, Angina pectoris, Coronary sinus enlargement, Partial atrio...	ORPHA:1330
Cleft Larynx, Posterior	Aspiration, Cyanosis	OMIM:215800
Sandestig-Stefanova Syndrome	Respiratory failure, Small for gestational age	OMIM:618804
Familial Visceral Myopathy	Hyperparathyroidism, Aganglionic megacolon, Camptodactyly of finger, Aplasia/Hypoplasia of the ab...	ORPHA:2604
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Aganglionic megacolon, Cryptorchidism, Flexion contracture, Optic atrophy, Macroglossia, Gastroes...	ORPHA:847
Congenital Tricuspid Valve Dysplasia	Respiratory failure requiring assisted ventilation, Cyanosis, Small for gestational age, Tachypne...	ORPHA:555874
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Mitral valve calcification, Spontaneous, recurrent epistaxis, Aortic valve calcifica...	ORPHA:2072
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Peripheral axonal neuropathy, Orthostatic hypotension	OMIM:263570
Eosinophilic Granulomatosis With Polyangiitis	Sinusitis, Cutis marmorata, Asthma, Respiratory insufficiency, Weight loss, Central nervous syste...	ORPHA:183
Joubert Syndrome 38	Ectopic posterior pituitary, Cerebellar vermis hypoplasia, Decreased serum insulin-like growth fa...	OMIM:619476
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Papilledema, Pancreatic islet cell adenoma, Myocardial infarction, Panc...	ORPHA:892
Corpus Callosum Agenesis-Neuronopathy Syndrome	Aqueductal stenosis, Agenesis of corpus callosum	ORPHA:1496
Nk-Cell Enteropathy	Colonic diverticula, Duodenal ulcer, Abnormal gastric mucosa morphology, Hematochezia, Gastric ul...	ORPHA:263665
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome	Pulmonary arterial hypertension, Respiratory failure, Failure to thrive, Respiratory insufficiency	OMIM:613845
Atrial Septal Defect, Sinus Venosus Type	Automatic atrial tachycardia, Atrial flutter, Tricuspid regurgitation, Left-to-right shunt, Atria...	ORPHA:99105
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Death in childhood, Respiratory fa...	OMIM:618278
Pagod Syndrome	Encephalocele, Sudden cardiac death, Spina bifida, Situs inversus totalis, Abnormality of the spl...	ORPHA:991
Hydrocephalus, Congenital, 5, Susceptibility To	Aqueductal stenosis, Noncommunicating hydrocephalus	OMIM:620241
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Mitochondrial Complex I Deficiency, Nuclear Type 32	Small for gestational age, Cerebral atrophy, Respiratory failure, Death in childhood, Failure to ...	OMIM:618252
Mitochondrial Trifunctional Protein Deficiency 1	Respiratory failure, Failure to thrive, Small for gestational age, Respiratory insufficiency	OMIM:609015
Cerebral Creatine Deficiency Syndrome 1	Prolonged QT interval, Ileus, Aganglionic megacolon	OMIM:300352
Primary Ciliary Dyskinesia	Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C...	ORPHA:244
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Choreoathetosis...	ORPHA:209905
Congenital Central Hypoventilation Syndrome	Abnormality of the autonomic nervous system, Aganglionic megacolon	ORPHA:661
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Aganglionic megacolon, Cryptorchidism, Cleft palate, Hypertension, Chiari malformation, Neonatal ...	OMIM:308205
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Congenital Fibrinogen Deficiency	Cyanosis, Bruising susceptibility, Subcutaneous hemorrhage, Opisthotonus	ORPHA:335
Fanconi Anemia, Complementation Group D2	Hypergonadotropic hypogonadism, Cryptorchidism, Patent ductus arteriosus, Hydrocephalus, Esophage...	OMIM:227646
Haddad Syndrome	Gastroesophageal reflux, Aganglionic megacolon, Abnormal autonomic nervous system physiology	ORPHA:99803
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Abnormality of the gastrointestinal tract, Bicuspid aortic valve, Ventricular septal defect, Cryp...	ORPHA:453499
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Tricuspid regurgitation, Dextrocardia, Supernumerary nipple, Periventricular heterotopia, Cryptor...	OMIM:618929
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia, Hydrocephalus, Ventricular septal defect, Ventriculomegaly	OMIM:219730
Buerger Disease	Acrocyanosis	ORPHA:36258
Multiple Endocrine Neoplasia, Type Iib	Colonic diverticula, Aganglionic megacolon, High, narrow palate, Myopathy, Pheochromocytoma, High...	OMIM:162300
X-Linked Creatine Transporter Deficiency	Ileus, Aganglionic megacolon	ORPHA:52503
Restrictive Dermopathy 2	Respiratory distress, Cyanosis	OMIM:619793
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Splenomegaly, Hepatomegaly, Abnormality of neuronal migration	ORPHA:2204
Mowat-Wilson Syndrome	Aganglionic megacolon, Ventricular septal defect, Supernumerary nipple, Cryptorchidism, Patent du...	OMIM:235730
Shprintzen-Goldberg Syndrome	Communicating hydrocephalus, Camptodactyly of finger, Cryptorchidism, High, narrow palate, Aplasi...	ORPHA:2462
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Congenital Myopathy 10B, Mild Variant	Reduced forced vital capacity, Respiratory failure, Recurrent pneumonia	OMIM:620249
Arnold-Chiari Malformation Type I	Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Abnorma...	ORPHA:268882
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension, Failure to thrive, Cyanosis	ORPHA:3309
Beckwith-Wiedemann Syndrome	Congenital diaphragmatic hernia, Cardiomegaly, Leiomyosarcoma, Hepatoblastoma, Hypothyroidism, He...	ORPHA:116
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Flexion contrac...	ORPHA:261537
Complete Atrioventricular Septal Defect	Cyanosis, Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated p...	ORPHA:1329
Ethylmalonic Encephalopathy	Failure to thrive, Acrocyanosis, Petechiae	ORPHA:51188
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Tachycardia, Tricuspid regurgitation, Congestive heart failure, Patent ductus arteriosus, Hydroce...	ORPHA:505248
Pulmonary Capillary Hemangiomatosis	Cyanosis, Dyspnea, Hemothorax, Hypoxemia, Elevated pulmonary artery pressure, Decreased DLCO, Ple...	ORPHA:199241
Pulmonary Arteriovenous Malformation	Cyanosis, Epistaxis, Dyspnea, Telangiectasia, Hypoxemia, Pleural empyema, Cough, Pulmonary arteri...	ORPHA:2038
Meckel Syndrome, Type 7	Portal hypertension, Situs inversus totalis, Pancreatic cysts, Patent ductus arteriosus, Biliary ...	OMIM:267010
Congenitally Corrected Transposition Of The Great Arteries	Wolff-Parkinson-White syndrome, Atrial situs ambiguous, First degree atrioventricular block, Hear...	ORPHA:216694
Koolen-De Vries Syndrome	Bicuspid aortic valve, Ventricular septal defect, Cryptorchidism, Patent ductus arteriosus, Pylor...	OMIM:610443
Microcephaly-Micromelia Syndrome	Aqueductal stenosis, Simplified gyral pattern, Neonatal death, Cleft palate	OMIM:251230
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cyanosis, Failure to thrive in infancy, Cerebral cortical atrophy	ORPHA:488627
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Flexion contrac...	ORPHA:261552
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Tricuspid regurgitation, Hypoperistalsis, Perim...	OMIM:611376
Congenital Gerbode Defect	Elevated right atrial pressure, Tricuspid regurgitation, Ventricular septal defect, Left-to-right...	ORPHA:99095
1P36 Deletion Syndrome	Abnormality of the spleen, Abnormality of the liver, Gastroesophageal reflux, Agenesis of corpus ...	ORPHA:1606
Car T Cell Therapy-Associated Cytokine Release Syndrome	Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure	ORPHA:542323
Meningioma	Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th...	ORPHA:2495
Mowat-Wilson Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, Asplenia, Cleft hard palate, Gastrointestina...	ORPHA:2152
Poliomyelitis	Abnormal motor nerve conduction velocity, Respiratory failure, Respiratory failure requiring assi...	ORPHA:2912
Fragile X Syndrome	Macroorchidism, postpubertal, Periventricular heterotopia, Congenital macroorchidism, Mitral valv...	OMIM:300624
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Flexion contracture, Micro...	OMIM:210710
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Adrenal gland agenesis	OMIM:611812
Fontaine Progeroid Syndrome	Cerebellar vermis hypoplasia, Bicuspid aortic valve, High, narrow palate, Hypoplasia of the abdom...	OMIM:612289
Poems Syndrome	Papilledema, Respiratory insufficiency due to muscle weakness, Weight loss, Restrictive ventilato...	ORPHA:2905
Aicardi-Goutieres Syndrome 1	Dystonia, Erythema, Cerebral atrophy, Prolonged neonatal jaundice, Acrocyanosis, Petechiae, Purpura	OMIM:225750
Muscular Dystrophy, Duchenne Type	Respiratory insufficiency due to muscle weakness, Hypoventilation, Respiratory failure, Restricti...	OMIM:310200
Cardiomyopathy, Dilated, 2D	Perinuclear cardiomyocyte vacuolization, Tricuspid regurgitation, Muscular ventricular septal def...	OMIM:619371
Boucher-Neuhauser Syndrome	Spinocerebellar atrophy, Intention tremor, Cerebellar atrophy, Abnormal upper motor neuron morpho...	OMIM:215470
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Hypertension, Abnormal autonomic nervous system physiology, Hypote...	ORPHA:93256
Wilson Disease	Hypoparathyroidism, Hepatomegaly, Decreased nerve conduction velocity, Splenomegaly, Atypical or ...	OMIM:277900
Tetrasomy 18P	Achalasia, Syncope, Abnormality of neuronal migration	ORPHA:3307
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Hepatomegaly, Diabetes mellitus, Pancreatic fibrosis, Hypothyroidism, Achille...	OMIM:616263
Riddle Syndrome	Conjunctival telangiectasia, Pneumonia, Neonatal asphyxia, Erythema, Recurrent pneumonia, Telangi...	ORPHA:420741
Boutonneuse Fever	Respiratory failure, Petechiae	ORPHA:83313
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Cartilage-Hair Hypoplasia	Esophageal atresia, Anal stenosis, Aganglionic megacolon, Malabsorption	OMIM:250250
Ethylene Glycol Poisoning	Cyanosis, Facial palsy, Episodic respiratory distress, Tachypnea, Renal tubular epithelial necros...	ORPHA:31826
Flna-Related X-Linked Myxomatous Valvular Dysplasia	Aortic regurgitation, Tricuspid regurgitation, Bicuspid aortic valve, Patent ductus arteriosus, N...	ORPHA:555877
Nephronophthisis 2	Respiratory failure, Respiratory insufficiency	OMIM:602088
Vacterl With Hydrocephalus	Spina bifida, Aqueductal stenosis, Cryptorchidism, Hydrocephalus, Esophageal atresia, Tracheoesop...	ORPHA:3412
Neurodegeneration And Seizures Due To Copper Transport Defect	Cerebellar atrophy, Tricuspid regurgitation, Cardiomegaly, Ventriculomegaly, Limb hypertonia	OMIM:620306
Peroxisome Biogenesis Disorder 1A (Zellweger)	Intrahepatic biliary dysgenesis, Optic disc pallor, Hepatomegaly, Ventricular septal defect, Adre...	OMIM:214100
Peripheral Motor Neuropathy-Dysautonomia Syndrome	Acrocyanosis	ORPHA:2400
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Hepatomegaly, Aganglionic megacolon, Splenomegaly, Ileus, Hypogonadism, Arthrogryposis multiplex ...	ORPHA:163746
Vici Syndrome	Cerebellar vermis hypoplasia, Congestive heart failure, Dilated cardiomyopathy, Cleft palate, Car...	OMIM:242840
Oculocerebral Hypopigmentation Syndrome, Preus Type	Aplasia/Hypoplasia of the cerebellum, High palate, Hydrocephalus, Abnormal brainstem morphology	ORPHA:2720
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal cerebell...	ORPHA:251937
Pancreatic And Cerebellar Agenesis	Agenesis of cerebellar vermis, Diabetes mellitus, Optic nerve hypoplasia, Secundum atrial septal ...	OMIM:609069
Radio-Tartaglia Syndrome	Ventricular septal defect, Precocious puberty, High, narrow palate, Gray matter heterotopia, High...	OMIM:619312
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Abnormal upper motor neuron m...	ORPHA:35689
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Familial Isolated Restrictive Cardiomyopathy	Hepatomegaly, Atrial fibrillation, Tricuspid regurgitation, Left atrial enlargement, Supraventric...	ORPHA:75249
9Q21.13 Microdeletion Syndrome	Cryptorchidism, Gastrointestinal dysmotility, Abnormal tongue morphology, Abnormal heart morpholo...	ORPHA:531151
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Death in infancy, Large for gestational age, Patent ductus arteriosus, Respiratory failure, Glios...	OMIM:300868
Fibrodysplasia Ossificans Progressiva	Respiratory failure, Respiratory insufficiency	OMIM:135100
Double Outlet Right Ventricle	Failure to thrive, Cyanosis, Tachypnea	ORPHA:3426
Neuroblastoma, Susceptibility To, 2	Aganglionic megacolon	OMIM:613013
Pfeiffer Syndrome Type 1	Aqueductal stenosis, High palate	ORPHA:93258
Piebald Trait	Aganglionic megacolon	OMIM:172800
Cntnap2-Related Developmental And Epileptic Encephalopathy	Hepatomegaly, Abnormal neuron morphology, Precocious puberty, Abnormality of neuronal migration, ...	ORPHA:163681
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Central diab...	ORPHA:293987
Carnitine-Acylcarnitine Translocase Deficiency	Cyanosis, Sudden episodic apnea, Respiratory insufficiency	ORPHA:159
Atrial Septal Defect, Ostium Primum Type	Cyanosis, Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Pulmona...	ORPHA:99106
Hydrolethalus Syndrome 1	Accessory spleen, Ventricular septal defect, Abnormal cortical gyration, Complete atrioventricula...	OMIM:236680
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Camptodactyly, Knee flexion contracture	OMIM:619694
Eosinophilic Fasciitis	Acrocyanosis, Weight loss	ORPHA:3165
Genitourinary And/Or Brain Malformation Syndrome	Streak ovary, Jejunal atresia, Ileal atresia, Cryptorchidism, Dysplastic corpus callosum, Gray ma...	OMIM:618820
Cushing Syndrome Due To Ectopic Acth Secretion	Increased urinary cortisol level, Pancreatic adenocarcinoma, Adrenal hyperplasia, Diabetes mellit...	ORPHA:99889
Pitt-Hopkins Syndrome	Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Gastroesophageal refl...	ORPHA:2896
S-Adenosylhomocysteine Hydrolase Deficiency	Respiratory failure, Failure to thrive	ORPHA:88618
Cardiac Diverticulum	Bicuspid aortic valve, Bicuspid pulmonary valve, Ventricular tachycardia, Atrial septal defect, P...	ORPHA:1686
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Mitochondrial Trifunctional Protein Deficiency	Respiratory failure, Failure to thrive in infancy, Respiratory insufficiency	ORPHA:746
Isolated Right Ventricular Hypoplasia	Hypoxemia, Dyspnea, Cyanosis	ORPHA:439
Piebaldism	Aganglionic megacolon	ORPHA:2884
Tarp Syndrome	Failure to thrive, Cyanosis, Optic atrophy, Apnea	ORPHA:2886
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia, Hydrocephalus	OMIM:187600
Lethal Congenital Contracture Syndrome 2	Respiratory failure	OMIM:607598
Histiocytoid Cardiomyopathy	Cyanosis, Tachypnea, Optic atrophy, Cough, Failure to thrive	ORPHA:137675
Sotos Syndrome	Hip contracture, Cerebellar vermis hypoplasia, Aganglionic megacolon, Ventricular septal defect, ...	ORPHA:821
Feingold Syndrome 1	Accessory spleen, Ventricular septal defect, Tricuspid stenosis, Jejunal atresia, Asplenia, Esoph...	OMIM:164280
Unilateral Polymicrogyria	Cyanosis, Apnea, Epistaxis, Perisylvian polymicrogyria, Giant somatosensory evoked potentials	ORPHA:268943
Mitchell-Riley Syndrome	Absent gallbladder, Meckel diverticulum, Diabetes mellitus, Jejunal atresia, Intestinal malrotati...	OMIM:615710
Acro-Renal-Ocular Syndrome	Optic disc coloboma, Aganglionic megacolon, Tetralogy of Fallot	ORPHA:959
Peroxisome Biogenesis Disorder 4A (Zellweger)	Death in infancy, Respiratory failure	OMIM:614862
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Respiratory failure, Polymicrogyria, Agyria	OMIM:616538
Malignant Atrophic Papulosis	Pleural effusion, Telangiectasia of the skin, Respiratory failure, Weight loss	ORPHA:679
Man1B1-Cdg	Cerebellar hypoplasia, Periventricular heterotopia	ORPHA:397941
Esophageal Atresia	Respiratory distress, Cyanosis, Small for gestational age, Failure to thrive in infancy, Episodic...	ORPHA:1199
Distal 22Q11.2 Microduplication Syndrome	Branchial fistula, Tricuspid regurgitation, Ventricular septal defect, Camptodactyly of finger, C...	ORPHA:261337
Joubert Syndrome 21	Apnea, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Chronic sinusitis	OMIM:615636
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons, Neonatal death	OMIM:253310
Congenital Fiber-Type Disproportion Myopathy	Hypercapnia, Respiratory insufficiency due to muscle weakness, Weight loss, Hypoxemia, Respirator...	ORPHA:2020
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis	ORPHA:1788
Cardiomyopathy, Familial Hypertrophic, 26	Atrial fibrillation, Left atrial enlargement, Sudden cardiac death, Congestive heart failure, Per...	OMIM:617047
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Central Hypoventilation Syndrome, Congenital, 1	Ineffective esophageal peristalsis, Aganglionic megacolon, Abnormal autonomic nervous system phys...	OMIM:209880
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Ventricular septal defect, Bicuspid aortic valve, Optic nerve h...	ORPHA:352665
Aortic Arch Interruption	Bicuspid aortic valve, Aortic valve atresia, Aortopulmonary window, Absent pulse, Single ventricl...	ORPHA:2299
Miller-Dieker Lissencephaly Syndrome	Cryptorchidism, Cleft palate, Abnormal heart morphology, Gray matter heterotopia, Joint contractu...	OMIM:247200
Pearson Syndrome	Hypoparathyroidism, Hepatomegaly, Median cleft lip and palate, Pancreatic fibrosis, Decreased res...	ORPHA:699
Doors Syndrome	Adrenal hyperplasia, Optic atrophy, Congenital hypothyroidism, Sirenomelia, Spina bifida occulta,...	ORPHA:79500
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Abnormality of neuronal migration, Narrow palate...	ORPHA:2063
Cardiac Valvular Dysplasia 2	Aortic regurgitation, Increased left ventricular end-diastolic volume, Tricuspid regurgitation, B...	OMIM:620067
Martinez-Frias Syndrome	Intestinal hypoplasia, Hypoplasia of the gallbladder, Jejunal atresia, Intestinal malrotation, Ex...	OMIM:601346
Visceral Myopathy 1	Intestinal pseudo-obstruction, Aganglionic megacolon, Pancreatitis, Dysphagia, Megaduodenum, Micr...	OMIM:155310
Neurofibromatosis, Type I	Spina bifida, Rhabdomyosarcoma, Aqueductal stenosis, Hydrocephalus, Hypertension, Pheochromocytom...	OMIM:162200
Bloom Syndrome	Small for gestational age, Pneumonia, Chronic pulmonary obstruction, Telangiectasia, Respiratory ...	ORPHA:125
Waardenburg Syndrome Type 3	Tracheomalacia, Acrocyanosis	ORPHA:896
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, High palate, Periventricular heterotopia	OMIM:614105
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Bilateral cryptorchidism, High, narrow palate, Chiari type I malfo...	ORPHA:466791
Niemann-Pick Disease Type C	Axial dystonia, Dystonia, Tremor, Jaundice, Cerebral atrophy, Respiratory insufficiency, Respirat...	ORPHA:646
Toriello-Lacassie-Droste Syndrome	Agenesis of corpus callosum, Aganglionic megacolon	ORPHA:3339
Arterial Tortuosity Syndrome	Respiratory distress, Telangiectasia of the skin, Prematurely aged appearance, Dyspnea, Cardiores...	ORPHA:3342
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Decreased number of large peripheral myelinated nerve fibers, Orthostatic hypotension, Acrocyanos...	OMIM:223900
Thoracic Dysplasia-Hydrocephalus Syndrome	Respiratory failure	ORPHA:1861
Criss-Cross Heart	Cyanosis, Respiratory insufficiency	ORPHA:1461
Distal Deletion 12Q	Diabetes mellitus, Unilateral cryptorchidism, Maturity-onset diabetes of the young, High, narrow ...	ORPHA:96149
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Rajab Interstitial Lung Disease With Brain Calcifications 1	Small for gestational age, Tachypnea, Respiratory insufficiency, Cerebral atrophy, Respiratory fa...	OMIM:613658
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
6Q Terminal Deletion Syndrome	Periventricular heterotopia, High, narrow palate, Abnormality of neuronal migration, Gray matter ...	ORPHA:75857
Atrial Septal Defect, Ostium Secundum Type	Orthopnea, Cyanosis, Pneumonia, Breathing dysregulation, Increased pulmonary vascular resistance,...	ORPHA:99103
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Cardiomegaly, Atrioventricular block, Left bun...	ORPHA:75565
Aprosencephaly And Cerebellar Dysgenesis	Poorly formed metencephalon, Aprosencephaly, Absent mesencephalon, Bifid uvula, Cerebellar dysplasia	OMIM:601374
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia, Dysphagia	OMIM:617008
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Neonatal insulin-dependent diabetes mellitus, Congenital diaphragmatic hernia, Biliary atresia, A...	ORPHA:2255
Hereditary Bullous Dystrophy, Macular Type	Acrocyanosis, Pneumonia	ORPHA:1867
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Choroid hemorrhage, Gliosis, Abnormal brainstem morphology	ORPHA:88619
Systemic Sclerosis	Abnormality of the gastrointestinal tract, Abnormal small intestine morphology, Pericarditis, Bar...	ORPHA:90291
Meckel Syndrome 14	Pneumothorax, Cyanosis, Cardiorespiratory arrest	OMIM:619879
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency	Abnormality of the pancreas, Aganglionic megacolon, Malabsorption	ORPHA:935
Syndromic Diarrhea	Aortic regurgitation, Hepatomegaly, Villous atrophy, Bicuspid aortic valve, Ventricular septal de...	ORPHA:84064
Methemoglobinemia And Ambiguous Genitalia	Cyanosis	OMIM:250790
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Feingold Syndrome	Abnormality of the spleen, Patent ductus arteriosus, Esophageal atresia, Annular pancreas, Duoden...	ORPHA:1305
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Ecchymosis, Pleu...	ORPHA:340
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Abnormal cortical gyration, Exencephaly, Abnormality of neuronal migration, Macrog...	ORPHA:2211
Telangiectasia, Hereditary Hemorrhagic, Type 1	Conjunctival telangiectasia, Tongue telangiectasia, Spinal arteriovenous malformation, Palate tel...	OMIM:187300
Nijmegen Breakage Syndrome	Cachexia, Recurrent pneumonia, Abnormality of neuronal migration, Respiratory failure, Cutaneous ...	ORPHA:647
Costello Syndrome	Pneumothorax, Respiratory insufficiency, Cerebral atrophy, Vestibular schwannoma, Respiratory fai...	OMIM:218040
Double Outlet Left Ventricle	Failure to thrive, Patent ductus arteriosus, Cyanosis, Tachypnea	ORPHA:3427
Absence Of The Pulmonary Artery	Orthopnea, Cyanosis, Nonproductive cough, Patent ductus arteriosus, Dyspnea, Recurrent pneumonia,...	ORPHA:980
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Aganglionic megacolon, Camptodactyly of finger, Cryptorchidism, Cerebellar hypoplasia, Agenesis o...	ORPHA:2273
Zygomycosis	Gastrointestinal hemorrhage, Pericarditis, Diabetes mellitus, Gastritis, Epistaxis, Hematemesis, ...	ORPHA:73263
Myasthenic Syndrome, Congenital, 21, Presynaptic	Cyanosis, Apnea, Respiratory insufficiency	OMIM:617239
Hyperimmunoglobulinemia D With Periodic Fever	Urticaria, Erythema, Acrocyanosis, Purpura	ORPHA:343
Lethal Acantholytic Erosive Disorder	Respiratory failure, Fragile skin	ORPHA:158687
Atrial Septal Defect, Coronary Sinus Type	Cyanosis, Pneumonia, Increased pulmonary vascular resistance, Dyspnea, Pulmonary arterial hyperte...	ORPHA:99104
Listeriosis	Respiratory distress, Miscarriage, Pneumonia, Tremor, Jaundice, Respiratory failure	ORPHA:533
Matthew-Wood Syndrome	Congenital diaphragmatic hernia, Cryptorchidism, Aplasia/Hypoplasia of the pancreas, Duodenal ste...	ORPHA:2470
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, We...	ORPHA:31204
Fucosidosis	Failure to thrive, Acrocyanosis, Vascular skin abnormality	ORPHA:349
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Decreased nerve conduction velocity, Knee flexion contracture, Wrist...	OMIM:618733
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Anteriorly placed anus, Gray matter heter...	OMIM:601390
Acquired Purpura Fulminans	Acrocyanosis, Macular purpura	ORPHA:49566
Congenital Tracheal Stenosis	Respiratory distress, Cyanosis, Neonatal asphyxia, Patent ductus arteriosus, Dyspnea, Wheezing, U...	ORPHA:141127
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Renal tubular epithelial necrosis, Strido...	ORPHA:79404
Primary Hyperoxaluria	Optic disc pallor, Cutis marmorata, Optic atrophy, Acrocyanosis, Failure to thrive	ORPHA:416
Igg4-Related Thyroid Disease	Pancreatic fibrosis, Retroperitoneal fibrosis, Thyrotoxicosis with diffuse goiter, Abnormal pitui...	ORPHA:64744
Coffin-Siris Syndrome 1	Ventricular septal defect, Intestinal malrotation, Duodenal ulcer, Congenital diaphragmatic herni...	OMIM:135900
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta	Cyanosis, Patent ductus arteriosus, Pulmonary arterial hypertension, Failure to thrive, Exertiona...	ORPHA:99050
Geleophysic Dysplasia 3	Dyspnea, Respiratory failure, Pneumonia	OMIM:617809
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Abnormal cardiac ventricular function, Paroxysmal atrial fibrillation, Tricuspid re...	ORPHA:1677
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Familial Dysautonomia	Orthostatic hypotension, Acrocyanosis, Optic atrophy	ORPHA:1764
Alveolar Echinococcosis	Liver abscess, Abnormal pericardium morphology, Portal hypertension, Cholangitis, Pancreatic cyst...	ORPHA:284
Hyperoxaluria, Primary, Type I	Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy	OMIM:259900
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Failure to thrive in infancy, Optic nerve hypoplasia, Patent ductus arteriosus after birth at ter...	ORPHA:500150
Steinert Myotonic Dystrophy	Respiratory failure requiring assisted ventilation, Peripheral axonal neuropathy, Respiratory ins...	ORPHA:273
Thrombocytopenia-Absent Radius Syndrome	Meckel diverticulum, Cerebellar vermis hypoplasia, Ventricular septal defect, Shoulder muscle hyp...	OMIM:274000
Eisenmenger Syndrome	Ventricular tachycardia, Aortopulmonary window, Abnormality of the liver, Bacterial endocarditis,...	ORPHA:97214
Familial Cerebral Saccular Aneurysm	Transient ischemic attack, Subarachnoid hemorrhage, Abnormal brainstem morphology, Intracranial h...	ORPHA:231160
Tetraamelia Syndrome 1	Adrenal gland agenesis	OMIM:273395
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia, Patent urachus, Scimitar anomaly, Atrial septal defect, Mesocard...	OMIM:618280
Cardiomyopathy, Dilated, 1Y	Increased left ventricular end-diastolic volume, Atrial fibrillation, Left ventricular noncompact...	OMIM:611878
Tako-Tsubo Cardiomyopathy	Prolonged QTc interval, Mildly reduced left ventricular ejection fraction, Bradycardia, Hypotensi...	ORPHA:66529
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Absent gallbladder, Overriding aorta, Abnormality of neuronal migration, Holoprosencephaly, Tetra...	ORPHA:3186
Kallmann Syndrome-Heart Disease Syndrome	Cyanosis	ORPHA:2326
Waardenburg Syndrome, Type 4C	Lacrimal gland hypoplasia, Cryptorchidism, Hypogonadism, Aganglionic megacolon	OMIM:613266
Myhre Syndrome	Small for gestational age, Patent ductus arteriosus, Obesity, Respiratory insufficiency, Respirat...	OMIM:139210
Duodenal Atresia	Abnormality of the pancreas, Annular pancreas, Duodenal atresia	ORPHA:1203
Peroxisome Biogenesis Disorder 13A (Zellweger)	Hepatomegaly, Intrahepatic cholestasis, Jaundice, Reduced number of intrahepatic bile ducts, Gray...	OMIM:614887
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion	Respiratory failure	ORPHA:254528
Glycogen Storage Disease Of Heart, Lethal Congenital	Respiratory distress, Pleural effusion, Cyanosis, Apnea	OMIM:261740
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Failure to thrive	ORPHA:2554
Postinfectious Vasculitis	Palpable purpura, Cutis marmorata, Pneumonia, Abnormality of the peripheral nervous system, Weigh...	ORPHA:48435
Pancreas, Annular	Annular pancreas, High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	Annular pancreas, High intestinal obstruction, Duodenal stenosis	ORPHA:675
Cardiac Valvular Dysplasia 1	Tricuspid regurgitation, Ventricular septal defect, Left atrial enlargement, Tricuspid stenosis, ...	OMIM:212093
Atelosteogenesis Type I	Malrotation of colon, Abnormal pancreatic duct morphology, Cleft palate	ORPHA:1190
Telangiectasia, Hereditary Hemorrhagic, Type 2	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Nail bed telangiectasia,...	OMIM:600376
Abetalipoproteinemia	Respiratory failure, Failure to thrive	ORPHA:14
Telangiectasia, Hereditary Hemorrhagic, Type 4	Conjunctival telangiectasia, Spontaneous, recurrent epistaxis, Cyanosis, Dyspnea, Lip telangiecta...	OMIM:610655
Glycogen Storage Disease Ib	Hepatomegaly, Pancreatic fibrosis, Splenomegaly, Delayed puberty, Hypertension, Inflammation of t...	OMIM:232220
Mckusick-Kaufman Syndrome	Cryptorchidism, Aganglionic megacolon, Anal atresia, Rectovaginal fistula	OMIM:236700
Structural Heart Defects And Renal Anomalies Syndrome	Death in infancy, Cyanosis	OMIM:617478
Wolfram Syndrome 2	Diabetes mellitus, Gastric ulcer, Optic atrophy, Optic neuropathy	OMIM:604928
Myasthenia Gravis	Dyspnea, Acrocyanosis	ORPHA:589
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Miscarriage, Large for gestational age, Spinal dysraphism, Restrictive ventilatory defect, Respir...	ORPHA:96334
Goodpasture Syndrome	Cyanosis, Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough...	OMIM:233450
Tuberous Sclerosis Complex	Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Generali...	ORPHA:805
Van Maldergem Syndrome 2	Cryptorchidism, Subcortical band heterotopia, Anteriorly placed anus, Gray matter heterotopia, Hi...	OMIM:615546
Charge Syndrome	Decreased response to growth hormone stimulation test, Secundum atrial septal defect, Gonadotropi...	OMIM:214800
Bone Marrow Failure Syndrome 3	Pancreatic steatosis, Cryptorchidism, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617052
Autosomal Dominant Polycystic Kidney Disease	Polycystic liver disease, Pancreatic cysts, Mitral valve prolapse, Hypertension, Pituitary growth...	ORPHA:730
Short-Rib Thoracic Dysplasia 8 With Or Without Polydactyly	Pancreatic fibrosis, Ventricular septal defect	OMIM:615503
Microphthalmia With Linear Skin Defects Syndrome	Respiratory distress, Dyspnea, Erythema, Respiratory failure, Failure to thrive	ORPHA:2556
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Resting tremor, Corpus callosum atrophy	OMIM:601162
Homozygous Familial Hypercholesterolemia	Angina pectoris, Myocardial infarction, Optic neuropathy, Sudden cardiac death, Tendon xanthomato...	ORPHA:391665
Aicardi-Goutières Syndrome	Dystonia, Cutis marmorata, Tremor, Degeneration of the striatum, Brain atrophy, Prolonged neonata...	ORPHA:51
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Hepatomegaly, Pancreatic fibrosis, Hypoplasia of the small intestine, Hepatic ...	OMIM:200995
Hutchinson-Gilford Progeria Syndrome	Prominent superficial blood vessels, Cyanosis, Upper airway obstruction, Weight loss, Severe fail...	ORPHA:740
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Absent gallbladder, Diabetes insipidus, Exocrine pancreatic insufficiency, Lobar holoprosencephal...	OMIM:618500
Dermatomyositis	Telangiectasia of the skin, Erythema, Respiratory insufficiency, Weight loss, Acrocyanosis, Pulmo...	ORPHA:221
Shwachman-Diamond Syndrome 2	Hepatomegaly, Steatorrhea, High palate, Hyperechogenic pancreas, Exocrine pancreatic insufficiency	OMIM:617941
Alg11-Cdg	Gray matter heterotopia, Limb hypertonia	ORPHA:280071
Pearson Marrow-Pancreas Syndrome	Hepatomegaly, Villous atrophy, Pancreatic fibrosis, Malabsorption, Macronodular cirrhosis, Steato...	OMIM:557000
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Polycystic liver disease, Pancreatic fibrosis, Pancreatic cysts, Jaundice, Bile duct proliferatio...	OMIM:208500
Pancreatic Agenesis-Holoprosencephaly Syndrome	Absent gallbladder, Neonatal insulin-dependent diabetes mellitus, Semilobar holoprosencephaly, Hi...	ORPHA:556955
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Protruding tongue	OMIM:618797
Genitopatellar Syndrome	Hip contracture, Anal stenosis, Ventricular septal defect, Periventricular heterotopia, Cryptorch...	OMIM:606170
Arteriosclerosis, Severe Juvenile	Hypertension, Gastric ulcer, Myocardial infarction, Delayed puberty	OMIM:208060
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Telangiectasia, Anteriorly placed anus, High palate, Hypogonadism, Annular pancreas	OMIM:268400
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Hypertension, Pheochromocytoma, Hepatic hemangioma, P...	OMIM:193300
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Aganglionic megacolon, High, narrow palate, Cryptorchidism, Optic disc col...	OMIM:309800
Igg4-Related Submandibular Gland Disease	Cholangitis, Retroperitoneal fibrosis, Abnormality of the thyroid gland, Enlarged lacrimal glands...	ORPHA:449432
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Hip contracture, Cleft palate, Knee flexion contracture, Annular pancreas, Ankyloglossia	ORPHA:488642
Autosomal Recessive Polycystic Kidney Disease	Hypoventilation, Spontaneous pneumothorax, Jaundice, Recurrent pneumonia, Respiratory failure	ORPHA:731
Heterotaxy, Visceral, 7, Autosomal	Cyanosis	OMIM:616749
Pancreatitis, Hereditary	Diabetes mellitus, Pancreatic calcification, Pancreatic pseudocyst, Steatorrhea, Pancreatitis, Ex...	OMIM:167800
Fraser Syndrome 2	Respiratory failure	OMIM:617666
Mismatch Repair Cancer Syndrome 1	Rhabdomyosarcoma, Adenomatous colonic polyposis, Gray matter heterotopia, Adenocarcinoma of the s...	OMIM:276300
Otopalatodigital Syndrome, Type Ii	Respiratory failure, Stillbirth, Respiratory insufficiency, Spina bifida	OMIM:304120
Tropical Pancreatitis	Pancreatic adenocarcinoma, Maternal diabetes, Jaundice, Insulin-dependent but ketosis-resistant d...	ORPHA:103918
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease	Diabetes mellitus, Pyloric stenosis, Jaundice, Hypothyroidism, Aplasia/Hypoplasia of the pancreas...	ORPHA:93111
Classical Ehlers-Danlos Syndrome	Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Ecchymosis, Acrocyanosi...	ORPHA:287
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Dyspnea, Respiratory failure	ORPHA:2636
Congenital Total Pulmonary Venous Return Anomaly	Atrial situs ambiguous, Cardiomegaly, Mixed total anomalous pulmonary venous connection, Atrial s...	ORPHA:99125
Truncus Arteriosus	Patent ductus arteriosus, Cyanosis, Tachypnea	ORPHA:3384
Generalized Arterial Calcification Of Infancy	Respiratory distress, Pulmonary arterial hypertension, Cyanosis, Failure to thrive in infancy	ORPHA:51608
Proteus Syndrome	Thymus hyperplasia, Decreased muscle mass, Testicular neoplasm, Sudden cardiac death, Enlarged po...	ORPHA:744
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Acrocyanosis, Apnea	ORPHA:285
Coffin-Lowry Syndrome	Acrocyanosis, Cutis marmorata, Decreased body weight	OMIM:303600
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Heart Block, Congenital	Atrioventricular block, Myocardial fibrosis, Myocardial calcification, Absent atrioventricular no...	OMIM:234700
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Esophageal ulceration, Gastric ulcer, Duodenal ulcer	OMIM:618372
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria, High palate	OMIM:618918
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric ulcer, Gastric hypertrophy	OMIM:161700
Erythroleukemia, Familial, Susceptibility To	Splenomegaly, Hepatomegaly	OMIM:133180

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 Erbb3

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 Erbb3.

No publications found that use IMPC mice or data for Erbb3.

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
Erbb3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Erbb3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Erbb3^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	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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