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

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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.

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Aplasia of the olfactory bulb, Intestinal pseudo-obstruction, Functional i... OMIM:243180
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyr... ORPHA:388
Lethal Congenital Contracture Syndrome 2
Respiratory failure, Akinesia OMIM:607598
Erythroleukemia, Familial, Susceptibility To
Hepatomegaly, Splenomegaly OMIM:133180

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

Disease Similarity of
phenotypes
Matching phenotypes Source
Amyotrophic Lateral Sclerosis 4, Juvenile
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... OMIM:602433
Lissencephaly 1
Subcortical band heterotopia, Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Agyria, ... OMIM:607432
Microlissencephaly
Cerebral dysmyelination, Cerebellar atrophy, Periventricular heterotopia, Simplified gyral patter... ORPHA:1083
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Cough, Tremor, Abnormal peripheral action potential amplitude, Inability to walk, Abnormality of ... ORPHA:90117
Chudley-Mccullough Syndrome
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... OMIM:604213
Amyotrophic Lateral Sclerosis 19
Loss of ability to walk, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sc... OMIM:615515
Monomelic Amyotrophy
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Tremor ORPHA:65684
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Hypoplasia of the pons, Periventricular ribbonlike heterotopia, Ventriculomegaly, Hypoplasia of t... OMIM:618677
Congenital Arthrogryposis With Anterior Horn Cell Disease
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Neonatal death, Respiratory insufficienc... OMIM:611890
Pontocerebellar Hypoplasia, Type 1A
Degeneration of anterior horn cells, Ataxia, Respiratory insufficiency, Basal ganglia gliosis OMIM:607596
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Global ... OMIM:611722
Lissencephaly 5
Optic atrophy, Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopath... OMIM:615191
Lissencephaly 3
Ventriculomegaly, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Pachygyria, Polymicr... OMIM:611603
Corpus Callosum, Partial Agenesis Of, X-Linked
Partial agenesis of the corpus callosum, Aganglionic megacolon, Inferior vermis hypoplasia, Hydro... OMIM:304100
Congenital Muscular Dystrophy Without Intellectual Disability
Proximal amyotrophy, Cerebellar cyst, Cerebellar atrophy, Facial diplegia, Achilles tendon contra... ORPHA:370980
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Gait disturbance, Hand tremor, Gliosis, Axonal degeneration, Decreased number of peripheral myeli... OMIM:604484
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Respiratory insufficiency due to muscle weakness, Facial palsy, Tremor, Difficulty walking, Degen... OMIM:159950
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Optic atrophy, Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnor... ORPHA:352682
Motor Neuron Disease With Dementia And Ophthalmoplegia
Respiratory insufficiency, Astrocytosis, Cerebral atrophy, Respiratory failure, Degeneration of a... OMIM:600333
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Dysphagia, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia o... ORPHA:280195
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Dystonia, Axonal loss, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria OMIM:614173
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... OMIM:105550
Congenital Muscular Dystrophy With Cerebellar Involvement
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Hydrocepha... ORPHA:370959
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy, Microcephaly, Cerebellar hypoplasia OMIM:618572
Ceroid Lipofuscinosis, Neuronal, 10
Cerebellar atrophy, Respiratory insufficiency, Increased neuronal autofluorescent lipopigment, Ne... OMIM:610127
Amyotrophic Lateral Sclerosis 5, Juvenile
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... OMIM:602099
Combined Oxidative Phosphorylation Deficiency 51
Optic atrophy, Neonatal respiratory distress, Small for gestational age, Cerebral atrophy, Respir... OMIM:619057
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory insufficiency, Failure to thrive, Facial palsy, Respiratory failure, Respiratory dist... OMIM:614399
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... OMIM:614373
Periventricular Nodular Heterotopia 7
Optic atrophy, Cleft palate, Periventricular nodular heterotopia, Flexion contracture, Gray matte... OMIM:617201
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Sleep apnea, Deg... OMIM:105400
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608030
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ventriculomegaly, Hydroce... OMIM:618709
Spinal Muscular Atrophy, X-Linked 2
Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory insufficiency, Degene... OMIM:301830
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1
Peripheral axonal degeneration, Small for gestational age, Tachypnea, Failure to thrive, Axonal d... OMIM:604320
Pontocerebellar Hypoplasia, Type 1C
Respiratory failure, Respiratory insufficiency, Cerebral cortical atrophy, Failure to thrive OMIM:616081
Amyotrophic Lateral Sclerosis 2, Juvenile
Dystonia, Spastic gait, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Ab... OMIM:205100
Spinal Muscular Atrophy, Type Iv
Hand tremor, Degeneration of anterior horn cells OMIM:271150
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Dystonia, Gait disturbance, Temporal cortical atrophy, Amyotrophic lateral sclerosis, Facial pals... OMIM:167320
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormal motor neuron morphology, Motor axonal neuropathy, Cranial nerve compression, Amyotrophic... ORPHA:52430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Skeletal muscle hypertrophy, Macroglossia, Achilles tendon con... OMIM:608840
Pure Autonomic Failure
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... ORPHA:441
Polymicrogyria Due To Tubb2B Mutation
Cerebellar atrophy, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesi... ORPHA:300573
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Diffi... OMIM:613954
Leigh Syndrome
Optic atrophy, Dystonia, Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of ... OMIM:256000
Spinal Muscular Atrophy, Type Ii
Hand tremor, Degeneration of anterior horn cells OMIM:253550
Burning Mouth Syndrome
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology ORPHA:353253
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency
Congenital adrenal hyperplasia, Increased circulating ACTH level OMIM:613571
Spinal Muscular Atrophy, Type Iii
Hand tremor, Degeneration of anterior horn cells OMIM:253400
Slc35A2-Cdg
Dandy-Walker malformation, Abnormal midbrain morphology, Limb joint contracture, Cerebellar atrop... ORPHA:356961
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure, Ataxia, Cerebral atrophy, Tremor OMIM:618637
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Cortical dysplasia, Ventricu... OMIM:615287
Spinocerebellar Ataxia Type 1
Postural tremor, Optic atrophy, Gait disturbance, Dystonia, Abnormality of somatosensory evoked p... ORPHA:98755
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Inabili... ORPHA:2590
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology OMIM:105500
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... OMIM:604317
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Abn... OMIM:252011
Band Heterotopia
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... OMIM:600348
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy OMIM:616437
Pituitary Hormone Deficiency, Combined Or Isolated, 7
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... OMIM:618160
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Gliosis, Ventriculomegaly, Pachygy... ORPHA:99802
Amyotrophic Lateral Sclerosis 21
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... OMIM:606070
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology OMIM:617757
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Axonal loss, Orthostatic hypotension, Gliosis, Decreased nerve conduction velocity, Central hypov... OMIM:118301
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Gait disturbance, Optic disc pallor, Failure to thrive, Ataxia, Cerebral atrophy, Respiratory fai... OMIM:615838
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Enlarged sylvian cistern ORPHA:1084
Amyotrophic Lateral Sclerosis
Motor neuron atrophy, Abnormal respiratory system physiology, Neurodegeneration, Amyotrophic late... ORPHA:803
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ataxia, Amyotrophic lateral sclerosis, Cerebral cortical atrophy OMIM:615911
Nemaline Myopathy 8
Respiratory failure, Death in infancy, Facial palsy OMIM:615348
Joubert Syndrome With Ocular Defect
Dextrocardia, Cleft palate, Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis... ORPHA:220493
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Optic atrophy, Death in infancy, Respiratory insufficiency, Ataxia, Respiratory failure, Lethargy OMIM:614299
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... OMIM:615411
3-Methylglutaconic Aciduria, Type Viii
Dystonia, Death in infancy, Apnea, Tremor, Cerebral atrophy, Respiratory failure OMIM:617248
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, S... OMIM:616505
X-Linked Lissencephaly With Abnormal Genitalia
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent ductus arteriosus, Ventri... ORPHA:452
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... OMIM:613153
Pontocerebellar Hypoplasia, Type 4
Respiratory failure, Death in infancy, Gliosis OMIM:225753
Attrv122I Amyloidosis
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... ORPHA:85451
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... OMIM:601493
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis OMIM:612069
Coach Syndrome 2
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis h... OMIM:619111
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Cerebellar atrophy, Apnea, Gliosis, Central sleep apnea, Pachygyri... ORPHA:168486
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Respiratory insufficiency, Failure to thrive, Brain atrophy, Lethargy OMIM:618228
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... ORPHA:266
Joubert Syndrome
Abnormality of neuronal migration, Aganglionic megacolon, Situs inversus totalis, Abnormality of ... ORPHA:475
Multiple Mitochondrial Dysfunctions Syndrome 1
Respiratory insufficiency, Failure to thrive, Pulmonary arterial hypertension, Respiratory failur... OMIM:605711
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
X-Linked Complicated Corpus Callosum Dysgenesis
Microcephaly, Aganglionic megacolon, Cerebellar hypoplasia ORPHA:1497
Meckel Syndrome, Type 4
Dandy-Walker malformation, Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Age... OMIM:611134
3C Syndrome
Abnormality of neuronal migration, Cleft palate, Aplasia/Hypoplasia of the cerebellum, Adrenal hy... ORPHA:7
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... DECIPHER:29
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology ORPHA:91412
Congenital Hydrocephalus
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Abnormal heart mo... ORPHA:2185
Cholesterol Pneumonia
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis OMIM:215030
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration, Ventricular septal defect, Ventriculomegaly, Aplasia/Hypoplasi... ORPHA:2772
Vocal Cord And Pharyngeal Distal Myopathy
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... ORPHA:600
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies
Respiratory failure, Respiratory insufficiency OMIM:208081
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Left Ventricular Noncompaction 1
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... OMIM:604169
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Respiratory failure, Respiratory insufficiency due to muscle weakness, Polymicrogyria, Cerebral c... OMIM:618291
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... OMIM:615412
Joubert Syndrome 30
Dandy-Walker malformation, Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Gray ma... OMIM:617622
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Lipoid Congenital Adrenal Hyperplasia
Congenital adrenal hyperplasia, Adrenogenital syndrome OMIM:201710
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:613435
Left Ventricular Noncompaction 8
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... OMIM:615373
Muscular Dystrophy, Congenital, 1B
Respiratory failure, Facial palsy OMIM:604801
Juvenile Amyotrophic Lateral Sclerosis
Dystonia, Cachexia, Arm dystonia, Opisthotonus, Axial dystonia, Head titubation, Oromandibular dy... ORPHA:300605
Paragangliomas 6
Elevated circulating catecholamine level, Paraganglioma OMIM:618464
Walker-Warburg Syndrome
Abnormality of neuronal migration, Cleft palate, Hydrocephalus, Polymicrogyria, Cerebellar hypopl... ORPHA:899
Congenital Muscular Dystrophy With Intellectual Disability
Respiratory insufficiency, Facial palsy, Loss of ability to walk, Respiratory failure, Cerebral c... ORPHA:370968
Joubert Syndrome With Renal Defect
Cleft palate, Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis, Cerebellar v... ORPHA:220497
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome
Ventricular septal defect, Megalencephaly, Mitral regurgitation, Polymicrogyria, Hydrocephalus, A... ORPHA:83473
Rhombencephalosynapsis
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Esophageal atresia, ... ORPHA:59315
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Aganglionic megacolon, Abnormality of the hypothalamus-pituita... ORPHA:2318
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Multiple Mitochondrial Dysfunctions Syndrome 3
Optic atrophy, Respiratory insufficiency, Polymicrogyria, Cerebral atrophy, Respiratory failure OMIM:615330
Left Ventricular Noncompaction 7
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction OMIM:615092
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Periventricular cysts, Abnormal corpus callosum morphology, Ventriculomegaly, Abnormal brainstem ... ORPHA:255182
Mitochondrial Complex I Deficiency, Nuclear Type 30
Respiratory failure, Neonatal death OMIM:301021
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration, Hepatomegaly, Ventriculomegaly, Abnormality of the liver, Cere... ORPHA:1980
Cardiomyopathy, Dilated, 1R
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... OMIM:613424
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Respiratory insufficiency OMIM:618328
Frontotemporal Dementia
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:600274
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cranial nerve morpholog... OMIM:605253
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis OMIM:617839
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, Dysphagia, Cerebellar atrophy, Agenesis of corpus callosum, Mi... ORPHA:89844
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Respiratory failure OMIM:263000
Severe Neurodegenerative Syndrome With Lipodystrophy
Caudate atrophy, Neuronal loss in central nervous system, Reduced subcutaneous adipose tissue, Tr... ORPHA:363400
Ceroid Lipofuscinosis, Neuronal, 7
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy OMIM:610951
Hyperaldosteronism, Familial, Type I
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level OMIM:103900
Acalvaria
Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cer... ORPHA:945
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... ORPHA:1532
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis OMIM:614808
Neuromyelitis Optica Spectrum Disorder
Respiratory failure, Peripheral demyelination, Neuronal loss in central nervous system, Myelitis ORPHA:71211
Combined Oxidative Phosphorylation Deficiency 31
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Microcephaly OMIM:617228
Pigmented Nodular Adrenocortical Disease, Primary, 3
Adrenal hyperplasia, Increased circulating cortisol level OMIM:614190
Cyanosis And Hepatic Disease
Cyanosis, Dyspnea OMIM:219400
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... OMIM:612158
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... ORPHA:101029
Alkuraya-Kucinskas Syndrome
High palate, Pericardial effusion, Cerebellar dysplasia, Arthrogryposis multiplex congenita, Vent... OMIM:617822
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due to muscle ... ORPHA:254875
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Failure to thrive, Ne... OMIM:245400
Apnea, Central Sleep
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration OMIM:207720
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:206448
Amyotrophic Lateral Sclerosis 8
Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis OMIM:608627
Autoimmune Polyendocrinopathy Type 1
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... ORPHA:3453
Spinal Muscular Atrophy, Type I
Respiratory failure, Respiratory insufficiency OMIM:253300
Bresek Syndrome
Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Crypt... ORPHA:85284
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencep... OMIM:615181
Cryptogenic Organizing Pneumonia
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat... ORPHA:1302
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hypertrophic cardiomyopathy, Optic atrophy, Hepatomegaly, Telangiectasia, Telangiectasia of the s... ORPHA:79279
Atrial Standstill
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... ORPHA:1344
Classic Glucose Transporter Type 1 Deficiency Syndrome
Dystonia, Central apnea, Ataxia, Cyanosis, Lethargy ORPHA:71277
Mitochondrial Complex I Deficiency, Nuclear Type 10
Optic atrophy, Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure OMIM:618233
L1 Syndrome
Aganglionic megacolon, Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis ORPHA:275543
Pelizaeus-Merzbacher Disease, Connatal Form
Dystonic gait, Failure to thrive, Gliosis, Ataxia, Inability to walk, Macrogyria, Respiratory fai... ORPHA:280210
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Cerebellar atrophy, Neurodegeneration, Bradykinesia, Tremor, Cerebral atrophy, Abnormal... OMIM:300894
Left Ventricular Noncompaction 10
Dilated cardiomyopathy, Left ventricular noncompaction OMIM:615396
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis OMIM:142623
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... OMIM:608097
Hereditary Methemoglobinemia
Athetosis, Cerebellar atrophy, Temporal cortical atrophy, Small for gestational age, Global brain... ORPHA:621
Postsynaptic Congenital Myasthenic Syndromes
Restrictive ventilatory defect, Decreased size of nerve terminals, Facial palsy, Exertional dyspn... ORPHA:98913
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Gliosis, Absent brainstem auditory responses, Vestibular areflexia, Diffuse cere... ORPHA:3240
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tachycardia, Patent ductus arteri... OMIM:613870
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia... OMIM:614563
Chiari Malformation Type Ii
Opisthotonus, Myelomeningocele, Syringomyelia, Ataxia, Cyanosis, Cervical myelopathy, Spina bifid... OMIM:207950
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Pu... OMIM:265120
Congenital Alveolar Capillary Dysplasia
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Duodenal stenosis, Asple... ORPHA:210122
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Dystonia, Cerebellar atrophy, Respiratory insufficiency, Failure to thrive, Apnea,... OMIM:618226
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration, Gliosis, Ventriculomegaly, Microcephaly, Cerebellar vermis hyp... OMIM:300957
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Neonatal death, Le... OMIM:619167
Hydrolethalus Syndrome 2
Cleft palate, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of ... OMIM:614120
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... ORPHA:166024
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Asbestos Intoxication
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... ORPHA:2302
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Failure to thrive, Respiratory distress, Cyanosis ORPHA:91130
Cerebellar-Facial-Dental Syndrome
Contractures involving the joints of the feet, Abnormal midbrain morphology, Ventricular septal d... ORPHA:444072
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Dandy-Walker malformation, Dysphagia, Meckel diverticulum, Agenesis of cerebellar vermis, Abnorma... ORPHA:163961
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology ORPHA:137596
Intermediate Nemaline Myopathy
Respiratory failure, Facial diplegia, Facial palsy, Difficulty walking ORPHA:171433
Butyrylcholinesterase Deficiency
Respiratory failure, Respiratory failure requiring assisted ventilation ORPHA:132
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Optic nerve hypoplasia, Lisse... OMIM:614643
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... ORPHA:1145
Machado-Joseph Disease Type 3
Dystonia, Peripheral axonal neuropathy, Cerebellar atrophy, Degeneration of the striatum, Progres... ORPHA:276244
Vici Syndrome
Optic atrophy, High palate, Hypoplasia of the pons, Cardiomyopathy, Cerebellar hypoplasia, Gray m... ORPHA:1493
Seizures, Benign Familial Infantile, 3
Cyanosis, Apnea OMIM:607745
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Aplasia of the olfactory bulb, Intestinal pseudo-obstruction, Functional i... OMIM:243180
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form
Abnormality of neuronal migration, High, narrow palate, Hepatic calcification, Hepatomegaly, Cere... ORPHA:228308
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Hydrocephalus OMIM:613603
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Joubert Syndrome 2
High palate, Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar ver... OMIM:608091
Riboflavin Transporter Deficiency
Cachexia, Abnormal cranial nerve morphology, Optic disc pallor, Respiratory insufficiency, Facial... ORPHA:97229
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Amoebiasis Due To Free-Living Amoebae
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... ORPHA:68
Seizures, Benign Familial Infantile, 1
Cyanosis, Apnea OMIM:601764
Fryns Syndrome
Dandy-Walker malformation, High palate, Cleft palate, Duodenal atresia, Aganglionic megacolon, Ec... ORPHA:2059
Lissencephaly 6 With Microcephaly
Partial agenesis of the corpus callosum, Cerebellar atrophy, Limb hypertonia, Microlissencephaly,... OMIM:616212
Arnold-Chiari Malformation Type Ii
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Dysph... ORPHA:1136
Microgastria-Limb Reduction Defects Association
Microgastria, Arrhinencephaly, Aganglionic megacolon, Fusion of the left and right thalami, Asple... OMIM:156810
Pontocerebellar Hypoplasia Type 10
Abnormal brainstem morphology, Optic atrophy, Simplified gyral pattern, Abnormal cerebral cortex ... ORPHA:411493
Familial Hyperaldosteronism Type Ii
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... ORPHA:404
Neuralgic Amyotrophy
Acrocyanosis, Respiratory insufficiency ORPHA:2901
Hepatic Veno-Occlusive Disease
Respiratory failure, Increased body weight, Jaundice ORPHA:890
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Respiratory distress, Dyspnea ORPHA:1832
Hsd10 Disease, Infantile Type
Dystonia, Optic atrophy, Neurodegeneration, Loss of ability to walk, Cyanosis, Cerebral atrophy, ... ORPHA:391428
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... OMIM:610921
Motor Neuropathy, Peripheral, With Dysautonomia
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Cyanosis,... OMIM:252320
Hyperekplexia 4
Respiratory failure, Cerebral atrophy OMIM:618011
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:201910
Familial Hyperaldosteronism Type I
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... ORPHA:403
Carnitine Palmitoyltransferase Ii Deficiency
Abnormality of neuronal migration, Hepatomegaly, Hepatic calcification, Myopathy, Cerebral calcif... ORPHA:157
Acth-Independent Macronodular Adrenal Hyperplasia
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... OMIM:219080
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Dilated third ventricle, Dandy-Walker malformation, Meningocele, Dysgenesis of the cerebellar ver... ORPHA:397715
Arthrogryposis Multiplex Congenita 6
Death in infancy, Neonatal death, Death in childhood, Akinesia, Respiratory failure OMIM:619334
Joubert Syndrome 1
Optic disc pallor, Brainstem dysplasia, Occipital myelomeningocele, Dysgenesis of the cerebellar ... OMIM:213300
Hyperphosphatasia With Mental Retardation Syndrome 1
Aganglionic megacolon, Cleft palate, Abnormal heart morphology, Abnormal rectum morphology, Hydro... OMIM:239300
Laryngotracheal Angioma
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions ORPHA:137935
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Cleft palate, Ventriculomegaly, Pachygyria, Hypoplasia of the corpus callo... ORPHA:66629
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Obstructive sleep apnea, Failure to thrive, Central sleep apnea, Ataxia, Inability to walk, Gener... ORPHA:70472
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Ventricular septal defect, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of ... OMIM:619306
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect
Ventricular septal defect, Aganglionic megacolon OMIM:235750
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Death in infancy, Myelopathy, Tremor, Ataxia, Brain atrophy, Respiratory failure OMIM:617186
Chronic Pneumonitis Of Infancy
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Intercostal retra... ORPHA:91359
Cardiomyopathy, Dilated, 1D
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... OMIM:601494
Ravine Syndrome
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... ORPHA:99852
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Abnormal cortical gyration, Peripheral axonal neuropathy, Neonatal respiratory distress, Axonal l... OMIM:616867
Pneumocystosis
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... ORPHA:723
Orofaciodigital Syndrome Xv
Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly OMIM:617127
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgitation, Thick c... OMIM:603387
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... OMIM:616501
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Dilated cardiomyopathy, Cerebellar cyst, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Ag... OMIM:253800
Poretti-Boltshauser Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... OMIM:615960
Pseudo-Torch Syndrome 2
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Patent ductus arteriosus, Ventriculomegaly, Polym... OMIM:617397
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... ORPHA:90793
Coach Syndrome 1
Hepatomegaly, Hypertension, Optic disc pallor, Esophageal varix, Hepatic fibrosis, Aplasia/Hypopl... OMIM:216360
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Aganglionic megacolon, Cleft palate, Ventriculomegaly, Olivopontocerebellar atrophy, Cryptorchidi... OMIM:308205
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Respiratory failure OMIM:600561
Lissencephaly, X-Linked, 1
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus callosum OMIM:300067
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... OMIM:610913
American Trypanosomiasis
Myocarditis, Hepatomegaly, Aganglionic megacolon, Cardiomyopathy, Splenomegaly, Achalasia, Conges... ORPHA:3386
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Axonal loss, Cerebellar atrophy, Neurodegeneration, Peripheral demyelination, Ataxia, C... OMIM:617672
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Vacterl Association With Hydrocephalus
Abnormal heart morphology, Stillbirth, Anal atresia, Hydrocephalus, Aqueductal stenosis OMIM:276950
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasi... OMIM:618476
Meckel Syndrome 13
Molar tooth sign on MRI, Flexion contracture, Cerebellar hypoplasia OMIM:617562
Congenital Disorder Of Glycosylation, Type Iil
Abnormal cortical gyration, Optic atrophy, Ventricular septal defect, Inflammation of the large i... OMIM:614576
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency
Adrenal hyperplasia, Adrenogenital syndrome OMIM:202110
Orofaciodigital Syndrome Vi
Cleft palate, High palate, Hypothalamic hamartoma, Tongue nodules, Cerebellar vermis hypoplasia, ... OMIM:277170
Orofaciodigital Syndrome Xiv
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Hamartoma of tongue, Perivent... OMIM:615948
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay
Abnormal pons morphology, Dysphagia, Cerebellar atrophy, Mitral valve prolapse, Foot dorsiflexor ... ORPHA:98
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis, Colon cancer OMIM:619101
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy, Agenesis o... OMIM:615665
Pigmented Nodular Adrenocortical Disease, Primary, 4
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... OMIM:615830
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Acromelic Frontonasal Dysostosis
Cleft palate, Periventricular nodular heterotopia, Ventriculomegaly, Hypopituitarism, Gray matter... OMIM:603671
African Iron Overload
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... ORPHA:139507
Neurooculocardiogenitourinary Syndrome
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tricuspid regurgitation, Bilat... OMIM:618652
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities
Respiratory failure, Neonatal death, Respiratory insufficiency OMIM:228940
Joubert Syndrome 25
Molar tooth sign on MRI, Cerebellar hypoplasia OMIM:616781
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cleft palate, Anencephaly, Congenital diaphragmatic hernia, Cerebellar vermis hypoplasia, Molar t... OMIM:616546
Acth-Independent Macronodular Adrenal Hyperplasia 2
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... OMIM:615954
Staphylococcal Necrotizing Pneumonia
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... ORPHA:36238
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... OMIM:609583
Leigh Syndrome With Cardiomyopathy
Dilated cardiomyopathy, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Neuronal loss in b... ORPHA:70474
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration, Arrhythmia, Microcephaly, Cerebral calcification ORPHA:1314
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Cleft palate, Agenesis of corpus c... ORPHA:35107
Joubert Syndrome 37
Hepatomegaly, High palate, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Cryptorchidism,... OMIM:619185
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Duodenal atresia, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finge... ORPHA:468631
Chromosome 6Q24-Q25 Deletion Syndrome
High, narrow palate, High palate, Right ventricular dilatation, Dysplastic tricuspid valve, Mitra... OMIM:612863
Mowat-Wilson Syndrome
Pyloric stenosis, Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebral whit... OMIM:235730
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Pontocerebellar atrophy, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arteri... ORPHA:258
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormality of the optic disc, Aplasia/Hypoplasia of the cereb... ORPHA:65
Oculogastrointestinal Muscular Dystrophy
Myopathy, Skeletal muscle atrophy, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruct... ORPHA:1876
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, En... OMIM:608629
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly,... ORPHA:93274
Japanese Encephalitis
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... ORPHA:79139
Pyruvate Dehydrogenase E1-Beta Deficiency
Periventricular cysts, Periventricular heterotopia, Ventriculomegaly, Pachygyria, Hypoplasia of t... ORPHA:255138
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Spinocerebellar Ataxia Type 2
Abnormal cortical gyration, Cerebral white matter atrophy, Abnormal substantia nigra morphology, ... ORPHA:98756
Orofaciodigital Syndrome I
Abnormal cortical gyration, Hypertension, High palate, Cleft palate, Myelomeningocele, Hepatic fi... OMIM:311200
Bohring-Opitz Syndrome
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Hyperechogenic pancreas, Inte... OMIM:605039
Combined Oxidative Phosphorylation Deficiency 52
Respiratory failure, Death in infancy, Lethargy OMIM:619386
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... OMIM:256600
Neu-Laxova Syndrome
Abnormality of neuronal migration, Cleft palate, Polymicrogyria, Cerebellar hypoplasia, Abnormal ... ORPHA:2671
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis, Apnea, Cerebral atrophy OMIM:261680
Spondylometaphyseal Dysplasia, X-Linked
Respiratory failure, Respiratory insufficiency OMIM:313420
Combined Oxidative Phosphorylation Deficiency 3
Optic atrophy, Optic neuropathy, Dystonia, Respiratory insufficiency, Patent ductus arteriosus, T... OMIM:610505
Loeffler Endocarditis
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... ORPHA:75566
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Acrofacial Dysostosis 1, Nager Type
Ventricular septal defect, Aganglionic megacolon, Cleft palate, Velopharyngeal insufficiency, Pat... OMIM:154400
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Ataxia, Abnormal upper m... OMIM:607694
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Abnormal upper motor neuron morphology OMIM:611637
Hyperphosphatasia With Mental Retardation Syndrome 2
Aganglionic megacolon, Cleft palate, Anal atresia, Ventriculomegaly, Atrial septal defect, Anal s... OMIM:614749
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft palate, Cerebellar malformation, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Agyr... OMIM:236670
Orofaciodigital Syndrome V
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Agenesis of corpus callosum OMIM:174300
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis ORPHA:70587
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrop... OMIM:221770
Juvenile Primary Lateral Sclerosis
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology ORPHA:247604
Growth Hormone Deficiency, Isolated Partial
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... OMIM:615925
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Dilated cardiomyopathy, Abnormality of neuronal migration, Hepatic calcification, High palate, He... OMIM:608836
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic... ORPHA:1454
Congenital Myasthenic Syndrome
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... ORPHA:98914
Neurocutaneous Melanocytosis
Dandy-Walker malformation, Meningocele, Abnormality of neuronal migration, Chiari malformation, I... ORPHA:2481
Familial Hyperaldosteronism Type Iii
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... ORPHA:251274
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Cerebellar cyst, Ventriculomegaly, Abnormal brainstem morphology, Cereb... ORPHA:370997
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Optic atrophy, High palate, Skeletal muscle atrophy, Abnormal ... ORPHA:192
Primary Pulmonary Hypoplasia
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure... ORPHA:2257
Brain Small Vessel Disease 2
Intracranial hemorrhage, Schizencephaly, Ventriculomegaly, Subcortical heterotopia, Porencephalic... OMIM:614483
Acute Interstitial Pneumonia
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... ORPHA:79126
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Dysphagia, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, ... OMIM:258450
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Optic disc pallor, Stillbirth, Cerebral atrophy, Respiratory failure OMIM:259720
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Optic atrophy, Partial agenesis of the corpus callosum, High palate, Hypoplasia of the pons, Arth... OMIM:619512
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ventriculomegaly OMIM:617761
19P13.12 Microdeletion Syndrome
Ventricular septal defect, Cleft palate, Mitral regurgitation, Aortic regurgitation, Aplasia/Hypo... ORPHA:254346
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration, Cleft palate, Microcephaly ORPHA:2216
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... ORPHA:90791
Joubert Syndrome 6
Hepatic fibrosis, Bile duct proliferation, Thickened superior cerebellar peduncle, Cerebellar ver... OMIM:610688
Optic Atrophy 8
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... OMIM:616648
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, Tr... OMIM:615157
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Simplified gyral pattern, Ventriculomeg... OMIM:615219
Smith-Lemli-Opitz Syndrome
Dandy-Walker malformation, Pyloric stenosis, Ventricular septal defect, Aganglionic megacolon, Cl... OMIM:270400
Myopathy, Centronuclear, X-Linked
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... OMIM:310400
Cerebrofacioarticular Syndrome
Dysplastic corpus callosum, Abnormal heart morphology, Absence of pubertal development, Pulmonic ... ORPHA:314679
Fryns Syndrome
Dandy-Walker malformation, Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic mega... OMIM:229850
Joubert Syndrome 18
Ventricular septal defect, Molar tooth sign on MRI, Camptodactyly OMIM:614815
Laryngotracheoesophageal Cleft
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea ORPHA:2004
Hyperaldosteronism, Familial, Type Iii
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level OMIM:613677
Holoprosencephaly
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Diabetes ... ORPHA:2162
Li-Ghorbani-Weisz-Hubshman Syndrome
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Ventriculomegal... OMIM:618974
Abcd Syndrome
Abnormal auditory evoked potentials, Aganglionic megacolon OMIM:600501
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosu... OMIM:307000
Thanatophoric Dysplasia
Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Hydrocephalus, Gray matter hete... ORPHA:2655
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... ORPHA:2182
Orofaciodigital Syndrome Type 6
Abnormality of neuronal migration, Cleft palate, High palate, Hamartoma of tongue, Hypothalamic h... ORPHA:2754
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Cerebellar atrophy ORPHA:352447
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... ORPHA:2414
Fanconi Anemia
Cleft palate, Duodenal stenosis, Abnormality of the hypothalamus-pituitary axis, Patent ductus ar... ORPHA:84
Obesity-Hypoventilation Syndrome
Obesity, Cyanosis, Hypoventilation OMIM:257500
Primary Pigmented Nodular Adrenocortical Disease
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... ORPHA:189439
Naxos Disease
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... OMIM:601214
Hereditary Motor And Sensory Neuropathy, Type Iic
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... OMIM:606071
Meckel Syndrome, Type 10
Cleft palate, Molar tooth sign on MRI, Anencephaly OMIM:614175
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Dystonia, Failure to thrive, Simplified gyral pattern, Intention tremor, Acrocyanosis, Truncal at... OMIM:614407
Oculocerebrocutaneous Syndrome
Dandy-Walker malformation, Cleft palate, Gray matter heterotopia, Cryptorchidism, Hypoplasia of t... OMIM:164180
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... OMIM:300049
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features
Aganglionic megacolon, Anal atresia OMIM:235760
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Left ventricular noncompaction cardiomyopathy, High, narrow palate, Ventricular septal defect, Pi... OMIM:300967
Waardenburg-Shah Syndrome
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Olfactory lobe agen... ORPHA:897
16P13.11 Microdeletion Syndrome
Abnormality of neuronal migration, Ventricular septal defect, Cleft palate, Holoprosencephaly, Ve... ORPHA:261236
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Inferior vermis hypoplasia, Abno... ORPHA:370022
Combined Oxidative Phosphorylation Defect Type 23
Paroxysmal dyspnea, Stridor, Failure to thrive, Cyanosis, Respiratory failure ORPHA:444013
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Hepatomegaly, Contractures involving the joints of the... ORPHA:456312
Infantile Krabbe Disease
Optic atrophy, Cachexia, Opisthotonus, Failure to thrive, Decreased nerve conduction velocity, Re... ORPHA:206436
Spastic Paraplegia 79, Autosomal Recessive
Optic atrophy, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Intention tremo... OMIM:615491
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects
Optic atrophy, Dysphagia, Cerebellar atrophy, Mitral regurgitation, Tricuspid regurgitation, Pach... OMIM:619576
Fixed Subaortic Stenosis
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... ORPHA:3092
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... OMIM:617542
Sick Sinus Syndrome 2
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... OMIM:163800
Paragangliomas 1
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... OMIM:168000
Alexander Disease
Abnormal autonomic nervous system physiology, Dysphagia, High palate, Hypertension, Megalencephal... ORPHA:58
Fg Syndrome Type 1
Pyloric stenosis, High palate, Abnormal large intestine morphology, Mitral valve prolapse, Optic ... ORPHA:93932
Tatton-Brown-Rahman Syndrome
Neuroendocrine neoplasm, Chiari malformation, Mitral regurgitation, Patent ductus arteriosus, Ven... ORPHA:404443
Combined Oxidative Phosphorylation Deficiency 4
Respiratory failure, Death in infancy, Polymicrogyria, Opisthotonus OMIM:610678
Secondary Short Bowel Syndrome
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... ORPHA:95427
Hirschsprung Disease
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyr... ORPHA:388
Joubert Syndrome 16
Dandy-Walker malformation, Molar tooth sign on MRI OMIM:614465
22Q11.2 Deletion Syndrome
Arrhinencephaly, Cleft palate, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arteri... ORPHA:567
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Waardenburg Syndrome, Type 3
Aganglionic megacolon, Joint contracture of the hand, Camptodactyly of finger, Scapular winging, ... OMIM:148820
Cyanosis, Transient Neonatal
Cyanosis, Jaundice OMIM:613977
Mitochondrial Complex I Deficiency, Nuclear Type 18
Respiratory failure, Death in infancy OMIM:618240
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI OMIM:617121
Hirschsprung Disease With Type D Brachydactyly
Aganglionic megacolon OMIM:306980
Periventricular Nodular Heterotopia
Pyloric stenosis, Periventricular heterotopia, Aortic regurgitation, Patent ductus arteriosus, Ab... ORPHA:98892
Smith-Lemli-Opitz Syndrome
Pyloric stenosis, Optic atrophy, Ventricular septal defect, Aganglionic megacolon, Cleft palate, ... ORPHA:818
Idiopathic Camptocormia
Dystonia, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis, Cerebral atrophy ORPHA:1320
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Cerebral ... ORPHA:2518
Ménétrier Disease
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... ORPHA:2494
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... OMIM:619424
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Abnormality of neuronal migration, Ankle flexion contracture, Ventricular septal defect, Optic di... ORPHA:464311
Arima Syndrome
Occipital meningocele, Hepatomegaly, Brainstem dysplasia, Hepatic fibrosis, Agenesis of cerebella... OMIM:243910
16Q24.3 Microdeletion Syndrome
Dilated cardiomyopathy, Dysphagia, High palate, Ventricular septal defect, Mitral regurgitation, ... ORPHA:261250
Hirschsprung Disease-Type D Brachydactyly Syndrome
Aganglionic megacolon ORPHA:2150
Benign Familial Infantile Epilepsy
Cyanosis, Apnea ORPHA:306
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Progressive cere... ORPHA:275872
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... ORPHA:1120
Paragangliomas 3
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... OMIM:605373
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Ventricular septal defect, Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Int... OMIM:263520
Hirschsprung Disease-Deafness-Polydactyly Syndrome
Aganglionic megacolon ORPHA:2155
Avian Influenza
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... ORPHA:454836
Galloway-Mowat Syndrome
Abnormality of neuronal migration, Pachygyria, Hiatus hernia, Camptodactyly of finger, Microcepha... ORPHA:2065
Perlman Syndrome
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia ORPHA:2849
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness
Aganglionic megacolon OMIM:235740
Peripartum Cardiomyopathy
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... ORPHA:563
Metatropic Dysplasia
Respiratory failure, Peripheral axonal neuropathy, Respiratory insufficiency OMIM:156530
Proximal Spinal Muscular Atrophy
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Facia... ORPHA:70
Oculocerebrofacial Syndrome, Kaufman Type
Optic atrophy, Failure to thrive, Respiratory distress, Respiratory failure, Dyspnea ORPHA:2707
Multiple Endocrine Neoplasia Type 2
Elevated circulating parathyroid hormone level, Paraganglioma of head and neck, Pheochromocytoma,... ORPHA:653
Down Syndrome
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, A... OMIM:190685
Schinzel-Giedion Syndrome
Central hypothyroidism, Dysphagia, High palate, Aganglionic megacolon, Neural tube defect, Streak... ORPHA:798
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Ventricular septal defect, High palate, Duodenal atresia, Annular pancreas, Hypopl... OMIM:616975
Renal-Hepatic-Pancreatic Dysplasia 1
Dandy-Walker malformation, Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct ... OMIM:208540
Monosomy 18Q
Left-to-right shunt, High palate, Diffuse white matter abnormalities, Mitral regurgitation, Secon... ORPHA:1600
Cardiomyopathy, Dilated, 1S
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... OMIM:613426
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect... ORPHA:747
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... ORPHA:189427
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism ORPHA:369929
Igg4-Related Ophthalmic Disease
Eosinophilia, Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology ORPHA:449563
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis OMIM:619132
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic neuropathy, Death in infancy, Optic disc pallor, Respiratory insufficiency, Cerebellar atro... OMIM:252010
Ane Syndrome
Motor neuron atrophy ORPHA:157954
Primary Unilateral Adrenal Hyperplasia
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... ORPHA:231580
Autosomal Recessive Primary Microcephaly
Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Gray matter heterotopia, Agenesis ... ORPHA:2512
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Gait disturbance, Peripheral axonal neuropathy, Abnormal upper motor neu... OMIM:263570
Piebald Trait-Neurologic Defects Syndrome
Aganglionic megacolon ORPHA:2885
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia, Neonatal insulin-dependent diabetes m... ORPHA:65288
Immunodeficiency 54
Respiratory failure, Respiratory insufficiency, Failure to thrive OMIM:609981
Alg1-Cdg
Respiratory failure, Cerebellar atrophy, Cerebral atrophy ORPHA:79327
Bohring-Opitz Syndrome
Dandy-Walker malformation, Optic atrophy, Cleft palate, Annular pancreas, Cardiomegaly, Cholelith... ORPHA:97297
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Cerebellar atrophy, Periventricular nodular heterotopia, Facial hypotonia, Patent ductus arterios... OMIM:618659
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea OMIM:610910
Breath-Holding Spells
Cyanosis OMIM:607578
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor OMIM:613724
Acute Lung Injury
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea ORPHA:178320
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:619133
Multiple Acyl-Coa Dehydrogenase Deficiency
Restrictive ventilatory defect, Gliosis, Respiratory failure, Inability to walk, Cardiorespirator... ORPHA:26791
Waardenburg Syndrome, Type 4B
Aganglionic megacolon OMIM:613265
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Dystonia, Cerebellar atrophy, Motor axonal neuropathy, Ataxia, Recurrent pneumonia... ORPHA:496641
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Waardenburg Syndrome Type 2
Aganglionic megacolon ORPHA:895
Spinal muscular atrophy, type I, with congenital bone fractures
Respiratory distress, Degeneration of anterior horn cells OMIM:271225
Reynolds Syndrome
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Telangiectasia of the sk... ORPHA:779
Pfeiffer Syndrome Type 2
High palate, Cleft palate, Chiari malformation, Intestinal malrotation, Anal atresia, Hydrocephal... ORPHA:93259
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Abnormal circulating a... ORPHA:90790
Williams Syndrome
Bicuspid aortic valve, Rectal prolapse, Abnormal gastric mucosa morphology, Patent ductus arterio... ORPHA:904
Bardet-Biedl Syndrome 1
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Hepatic fibros... OMIM:209900
Joubert Syndrome 9
Molar tooth sign on MRI, Hepatic fibrosis, Ventriculomegaly OMIM:612285
Meckel Syndrome
Dandy-Walker malformation, Optic atrophy, Cleft palate, Anencephaly, Lobar holoprosencephaly, Asp... ORPHA:564
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Respiratory failure, Death in infancy, Cerebral cortical atrophy ORPHA:1194
Orofaciodigital Syndrome Type 14
Dilated third ventricle, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Part... ORPHA:434179
Congenital Tracheomalacia
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... ORPHA:95430
Congenital Muscular Dystrophy, Ullrich Type
Respiratory failure, Torticollis ORPHA:75840
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Cerebellar atrophy, Opisthotonus, Apnea, Ataxia, Inability to walk, Cyanosis, Attention deficit h... OMIM:619580
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Respiratory failure, Difficulty walking, Nocturnal hypoventilation, Reduced vital capacity OMIM:603689
Charge Syndrome
Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellum, Anterior hypopituit... ORPHA:138
Waardenburg Syndrome, Type 4A
Aganglionic megacolon OMIM:277580
Cardiomyopathy, Dilated, 1Kk
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... OMIM:615248
Maternal Uniparental Disomy Of Chromosome 6
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis ORPHA:96181
47,Xyy Syndrome
Macroorchidism, Increased serum testosterone level, Dysgenesis of the cerebellar vermis, Cerebell... ORPHA:8
Dermotrichic Syndrome
Aganglionic megacolon ORPHA:99688
Dravet Syndrome
Global brain atrophy, Bradykinesia, Progressive gait ataxia, Action tremor, Cyanotic episode ORPHA:33069
Generalized Glucocorticoid Resistance Syndrome
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... ORPHA:786
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Pachygyria, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the... OMIM:609460
Waardenburg Syndrome Type 1
Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida ORPHA:894
Cartilage-Hair Hypoplasia
Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megacolon, Cardio... ORPHA:175
Vici Syndrome
Dilated cardiomyopathy, Myopathy, Cleft palate, Schizencephaly, Cardiomyopathy, Left ventricular ... OMIM:242840
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Failure to thrive in infancy, Lissencephaly, Simplified gyral pattern, Cyanotic episode ORPHA:284417
Dubin-Johnson Syndrome
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... ORPHA:234
Leigh Syndrome
Focal T2 hyperintense brainstem lesion, Multiple joint contractures, Neuronal loss in basal gangl... ORPHA:506
Idiopathic Pulmonary Hemosiderosis
Restrictive ventilatory defect, Crackles, Failure to thrive, Cough, Respiratory failure, Dyspnea ORPHA:99931
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... OMIM:202010
Joubert Syndrome 7
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... OMIM:611560
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Exertional dyspnea, Cyanosis, Opisthotonus OMIM:250800
Trisomy 8P
Dandy-Walker malformation, Cleft palate, Dysplastic aortic valve, Annular pancreas, Aplasia/Hypop... ORPHA:264450
Combined Oxidative Phosphorylation Deficiency 37
Optic atrophy, Cerebellar atrophy, Respiratory insufficiency, Failure to thrive, Respiratory failure OMIM:618329
Jacobsen Syndrome
Pyloric stenosis, Optic atrophy, Ventricular septal defect, Annular pancreas, Holoprosencephaly, ... OMIM:147791
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Central hypoventilation, Apnea OMIM:619483
Bilateral Perisylvian Polymicrogyria
Abnormality of neuronal migration, Distal arthrogryposis, Dysphagia, Limb hypertonia, Pseudobulba... ORPHA:98889
Polyvalvular Heart Disease Syndrome
High palate, Mitral valve prolapse, Tricuspid regurgitation, Pulmonic stenosis, Abnormal heart va... ORPHA:228410
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Hypertrophic cardiomyopathy, Optic atrophy, Mitral regurgitation, Macroglossia, Abnormal heart mo... ORPHA:505248
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Cleft palate, Abnormal hypothalamus morphology, Volvulus, Abnormali... ORPHA:314621
Partial Atrioventricular Septal Defect
Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... ORPHA:1330
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Dandy-Walker malformation, Cleft palate, Patent ductus arteriosus, Anal atresia, Bifid tongue, Mo... OMIM:616300
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Ventriculomegal... OMIM:618870
Shprintzen-Goldberg Syndrome
Communicating hydrocephalus, High, narrow palate, Chiari malformation, Mitral valve prolapse, Apl... ORPHA:2462
Aicardi Syndrome
Dilated third ventricle, Dandy-Walker malformation, Optic atrophy, Cleft palate, Partial agenesis... OMIM:304050
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Hypercap... ORPHA:79138
Orofaciodigital Syndrome Type 5
High, narrow palate, Aganglionic megacolon, Cleft soft palate, Bifid uvula, Bifid tongue, Tetralo... ORPHA:2919
Subependymal Nodular Heterotopia
Meningocele, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Myelomen... ORPHA:101030
Ring Chromosome 10 Syndrome
Aganglionic megacolon ORPHA:1438
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... OMIM:619051
Aceruloplasminemia
Abnormal corpus striatum morphology, Elevated hepatic iron concentration, Abnormal pancreas morph... ORPHA:48818
Duane-Radial Ray Syndrome
Ventricular septal defect, Aganglionic megacolon, Facial palsy, Pectoralis hypoplasia, Anal atres... OMIM:607323
Brain-Lung-Thyroid Syndrome
Dystonia, Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Fall... ORPHA:209905
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Cerebral calcification, Splenomegaly, Intestinal malrotation, Aqueductal stenosis ORPHA:3035
Adult Acute Respiratory Distress Syndrome
Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea ORPHA:70578
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration, Cong