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Gene: Mycbp2 MGI:2179432

Gene Summary

Name:

MYC binding protein 2, E3 ubiquitin protein ligase

Synonyms:

Pam, C130061D10Rik, Phr1

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage
enlarged heart	Mycbp2^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, complete penetrance	Mycbp2^em1(IMPC)Mbp	HOM	Early adult
anophthalmia	Mycbp2^em1(IMPC)Mbp	HET	Early adult
abnormal heart morphology	Mycbp2^em1(IMPC)Mbp	HET	Early adult
abnormal eye morphology	Mycbp2^em1(IMPC)Mbp	HET	Early adult

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Viewing: all phenotypes

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.

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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X-ray

XRay Images Whole Body Lateral Orientation

16 Images

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MicroCT E14.5-E15.5

Embryo reconstruction

8 Images

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Human diseases caused by Mycbp2 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 Mycbp2 (0 diseases)
Human diseases predicted to be associated with Mycbp2 (916 diseases)

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Mycbp2 by phenotypic similarity.

Disease	Matching phenotypes	Source
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Abnormality of the anterior commissure, Hypoplasia of the pons, Hydrocephalus, Midline brainstem ...	OMIM:617542
Ethanolaminosis	Cardiomegaly	OMIM:227150
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Polymicrogyria Due To Tubb2B Mutation	Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal...	ORPHA:300573
Tubulinopathy-Associated Dysgyria	Ventriculomegaly, Microcephaly, Hypoplasia of the pons, Abnormal brainstem morphology, Abnormalit...	ORPHA:467166
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Hypoplasia of the pons, Diffuse white matter abnormalities, Hypoplasia o...	ORPHA:370959
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Spinal muscular atrophy, Microcephaly, Hypoplasia of the pons, De...	OMIM:607596
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Microcephaly, Simplified gyral pattern, Decreased thalamic volume, Hypoplasia of the brainstem, H...	OMIM:619072
Coasy Protein-Associated Neurodegeneration	Abnormal globus pallidus morphology, Abnormal caudate nucleus morphology, Eye of the tiger anomal...	ORPHA:397725
Pontocerebellar Hypoplasia, Type 12	Death in infancy, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the brainstem, Pr...	OMIM:618266
Microphthalmia, Isolated, With Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Camptodactyly of finger, Superior rectus atrophy, Levator palpebrae superioris atro...	OMIM:600638
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Lethal Congenital Contracture Syndrome 3	Neonatal death, Respiratory insufficiency	OMIM:611369
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Decreased thalamic volume, Abnormal basal ganglia morphology	OMIM:618646
Microphthalmia, Isolated, With Coloboma 5	Microphthalmia, Anophthalmia, Bilateral microphthalmos	OMIM:611638
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Hypoplasia of the brainstem, Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral ...	OMIM:613668
Band Heterotopia	Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes...	OMIM:600348
Leukoencephalopathy With Vanishing White Matter 5	Abnormal cerebral white matter morphology, Lateral ventricle dilatation, Dilated third ventricle,...	OMIM:620315
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Microphthalmia, Syndromic 12	Anophthalmia, Microphthalmia, Hypoplastic left atrium, Ventricular septal defect	OMIM:615524
Muscular Hypertonia, Lethal	Respiratory distress, Death in infancy, Pneumonia	OMIM:254120
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Torticollis, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Simplified gyral pa...	ORPHA:300570
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Alexander Disease Type I	Hydrocephalus, Abnormal thalamic MRI signal intensity, Abnormal cerebral white matter morphology,...	ORPHA:363717
Cach Syndrome	Microcephaly, T2 hypointense thalamus, Flexion contracture, Optic atrophy, Cerebral atrophy, Abno...	ORPHA:135
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Caudate atrophy, T2 hypointense thalamus, Basal ganglia calcification, Leukoencephalopathy, Hypop...	OMIM:618193
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina...	OMIM:618736
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Torticollis, Focal T2 hyperintense thalamic lesion, Le...	OMIM:613724
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro...	OMIM:607641
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Hypoplasia of...	OMIM:604213
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification, Hypomimic face	OMIM:618824
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Microcephaly, Simplified gyral pattern, Periventricular cysts, Abnormal cerebra...	OMIM:617668
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy	OMIM:619057
Spastic Paraplegia 45, Autosomal Recessive	Skeletal muscle atrophy, Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Hypoplas...	OMIM:613162
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter, Hypoplasi...	OMIM:616816
Microphthalmia-Brain Atrophy Syndrome	Diffuse cerebral atrophy, Microcephaly, Corpus callosum atrophy, Abnormal pons morphology, Latera...	ORPHA:77299
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Caudate atrophy, Basal ganglia calcification, Leukoencephalopathy, Cerebral atrophy, Lateral vent...	OMIM:221770
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Dandy-Walker malformation, Ventriculomegaly, Hypoplasia of the pons, Hydrocephalus, Flexion contr...	OMIM:613154
Unilateral Hemispheric Polymicrogyria	Cerebral hypoplasia, Thick cerebral cortex, Cortical dysplasia, Lateral ventricle dilatation	ORPHA:101071
Basal Ganglia Calcification, Idiopathic, 5	Basal ganglia calcification, Cerebral calcification, Thalamic calcification	OMIM:615483
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral...	ORPHA:166024
Isolated Congenital Hypoglossia/Aglossia	Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia	ORPHA:141152
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Cardiomyopathy, Dilated, 1I	Dilated cardiomyopathy, Cardiomegaly	OMIM:604765
Septopreoptic Holoprosencephaly	Abnormal midbrain morphology, Megalencephaly, Hypoplasia of the pons, Microcephaly, Perisylvian p...	ORPHA:280195
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ventriculomegaly, Microcephaly, Partial agenesis of the corpus callosum, Flexion contracture, Cer...	ORPHA:79243
Autosomal Recessive Spastic Paraplegia Type 11	Orthostatic hypotension, Abnormal substantia nigra morphology, Atrophy of the spinal cord, Hyperi...	ORPHA:2822
Combined Oxidative Phosphorylation Defect Type 7	Skeletal muscle atrophy, Abnormal brainstem MRI signal intensity, Optic atrophy, Abnormal thalami...	ORPHA:254930
Lissencephaly 4	Simplified gyral pattern, Colpocephaly, Lissencephaly, Primary microcephaly, Agenesis of corpus c...	OMIM:614019
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Mild malformation of cortical development, Dysplastic corpus callosum, Ventriculomegaly, Abnormal...	ORPHA:500166
Congenital Arthrogryposis With Anterior Horn Cell Disease	Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Microcephaly, Paucity of anterio...	OMIM:611890
Martsolf Syndrome 2	Camptodactyly of finger, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus cal...	OMIM:619420
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Optic disc pallor, Miscarriage, T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cere...	ORPHA:1947
Spinocerebellar Ataxia With Epilepsy	Myopathy, Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral infarct	ORPHA:254881
Spinal Muscular Atrophy, Segmental	Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy	OMIM:183020
Developmental And Epileptic Encephalopathy 30	Respiratory distress, Death in infancy	OMIM:616341
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi...	OMIM:619517
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Basal ganglia calcification, Thalamic calcification	OMIM:618317
Leukoencephalopathy, Progressive, With Ovarian Failure	Progressive leukoencephalopathy, Periventricular leukomalacia, Leukoencephalopathy, Lateral ventr...	OMIM:615889
Polymicrogyria With Optic Nerve Hypoplasia	Optic nerve hypoplasia, Dysplastic corpus callosum, Hypoplasia of the brainstem, Colpocephaly, Po...	ORPHA:250972
Familial Acute Necrotizing Encephalopathy	Abnormal brainstem MRI signal intensity, Abnormal putamen morphology, Abnormal brainstem morpholo...	ORPHA:88619
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Skeletal muscle atrophy, Microcephaly, Hypoplasia of the pons, Dysplastic corpus callosum, Type 1...	OMIM:618276
Alg2-Cdg	Abnormal basal ganglia MRI signal intensity, Microcephaly, Lateral ventricle dilatation, Hypoplas...	ORPHA:79326
Holoprosencephaly 5	Syntelencephaly, Alobar holoprosencephaly, Microcephaly, Hydrocephalus, Lobar holoprosencephaly, ...	OMIM:609637
Bronchopulmonary Dysplasia	Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,...	ORPHA:70589
Combined Oxidative Phosphorylation Defect Type 39	Optic disc pallor, Microcephaly, Decreased nerve conduction velocity, Corpus callosum atrophy, De...	ORPHA:565624
Japanese Encephalitis	Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign...	ORPHA:79139
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Abnormality of the anterior commissure, Neurogenic bladder, Optic nerve hypoplasia, Pachygyria, T...	ORPHA:572013
Laryngotracheal Angioma	Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough	ORPHA:137935
Stuve-Wiedemann Syndrome 2	Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert...	OMIM:619751
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Lateral ventricle dilatation, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Microcep...	OMIM:618890
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Dilated fourth ventricle, Abnormal cerebral white matter morphology, Lateral ventricle dilatation...	OMIM:613443
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Limb joint contracture, Ankle flexion contracture, Simplified gyral pattern, Knee flexion contrac...	ORPHA:284417
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric...	OMIM:617296
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo...	OMIM:619244
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Lissencephaly 9 With Complex Brainstem Malformation	Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissure, Hypoplasia of the brainste...	OMIM:618325
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Decreased motor nerve conduction velocity, Abnormal motor neuron morphology	DECIPHER:29
Intellectual Developmental Disorder, X-Linked 103	Lateral ventricle dilatation, Polymicrogyria	OMIM:300982
Succinic Acidemia	Respiratory distress	OMIM:600335
Polyrrhinia	Lateral ventricle dilatation, Abnormal third ventricle morphology	ORPHA:141091
Joubert Syndrome 3	Frontal polymicrogyria, Enlarged fossa interpeduncularis, Lateral ventricle dilatation, Molar too...	OMIM:608629
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Microcephaly, Abnormal brainstem morphology, Periventricular cysts, Cerebral atrophy, Abnormal ba...	ORPHA:255182
Immunodeficiency 95	Respiratory distress, Respiratory failure, Recurrent viral pneumonia	OMIM:619773
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Skeletal muscle atrophy, Multiple joint contractures, Perisylvian polymicrogyria, Flexion contrac...	OMIM:618291
Neuroferritinopathy	Caudate atrophy, Abnormal putamen morphology, T2 hypointense thalamus, Abnormal thalamic MRI sign...	ORPHA:157846
Lissencephaly Due To Tuba1A Mutation	Dilated fourth ventricle, Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Microcephaly, Hy...	ORPHA:171680
Craniosynostosis 6	Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da...	OMIM:616602
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Meckel Syndrome, Type 8	Pericardial effusion, Microphthalmia, Anophthalmia, Enlarged kidney	OMIM:613885
Severe Acute Respiratory Syndrome	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu...	ORPHA:140896
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:617127
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal th...	ORPHA:444013
Glutamine Deficiency, Congenital	Flexion contracture, Subependymal cysts, Lateral ventricle dilatation, Hypoplasia of the corpus c...	OMIM:610015
Hemiparkinsonism-Hemiatrophy Syndrome	Lateral ventricle dilatation, Cerebral cortical hemiatrophy	ORPHA:306669
Adams-Oliver Syndrome 2	Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Lateral ventricle dilatation, Polym...	OMIM:614219
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria	OMIM:614173
Congenital Lobar Emphysema	Respiratory distress, Emphysema	ORPHA:1928
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Slc35A2-Cdg	Cerebral white matter atrophy, Limb joint contracture, Abnormal midbrain morphology, Camptodactyl...	ORPHA:356961
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ...	OMIM:620317
Respiratory Distress Syndrome In Premature Infants	Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea	OMIM:267450
Malan Overgrowth Syndrome	Optic disc pallor, Hypoplasia of the brainstem, Lateral ventricle dilatation, Hypoplasia of the c...	ORPHA:420179
Myasthenic Syndrome, Congenital, 6, Presynaptic	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:254210
Hydrolethalus Syndrome 2	Hydrocephalus, Anencephaly, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Juvenile Neuronal Ceroid Lipofuscinosis	Optic disc pallor, Cerebral atrophy, Abnormal cerebral white matter morphology, Focal T2 hyperint...	ORPHA:79264
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Dist...	OMIM:611067
Laryngomalacia	Respiratory distress, Congenital laryngeal stridor	OMIM:150280
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Fatty replacement of skeletal muscle, Cranial nerve compression, A...	ORPHA:52430
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Microcephaly, Lateral ventricle dilatation, Hypoplasia of the brainstem...	OMIM:617751
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal cerebral white ma...	OMIM:602099
Intellectual Developmental Disorder, Autosomal Dominant 56	Pontocerebellar atrophy, Lateral ventricle dilatation, Secondary microcephaly, Thin corpus callos...	OMIM:617854
Acute Disseminated Encephalomyelitis	Hypointensity of cerebral white matter on MRI, Abnormal brainstem MRI signal intensity, Diffuse w...	ORPHA:83597
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Pontocerebellar Hypoplasia, Type 13	Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Hypoplasia of the corpus call...	OMIM:618606
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap...	OMIM:605809
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Flexion contracture, Hypoplasia of the brainstem, Secondary microcephal...	OMIM:619306
Congenital Hydrocephalus	Abnormal cortical gyration, Hydrocephalus, Optic atrophy, Small cerebral cortex, Colpocephaly, Li...	ORPHA:2185
Recurrent Respiratory Papillomatosis	Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction...	ORPHA:60032
Bilateral Generalized Polymicrogyria	Lateral ventricle dilatation, Diffuse white matter abnormalities, Hypoplasia of the corpus callos...	ORPHA:208447
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Spa...	OMIM:606353
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Abnormal basal ganglia MRI signal intensity, Optic disc pallor, Decreased nerve conduction veloci...	ORPHA:485421
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Ventriculomegaly, Absent septum pellucidum, Meningocele, Abnormal basal ...	ORPHA:397715
Anencephaly 2	Anophthalmia	OMIM:619452
Hereditary Pulmonary Alveolar Proteinosis	Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac...	ORPHA:264675
Bronchiolitis Obliterans With Obstructive Pulmonary Disease	Pneumonia, Reduced forced expiratory volume in one second, Reduced forced vital capacity, Dyspnea...	ORPHA:1303
3P25.3 Microdeletion Syndrome	Skeletal muscle atrophy, Cerebral white matter atrophy, Abnormal thalamus morphology, Knee flexio...	ORPHA:435638
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal...	ORPHA:1145
Leigh Syndrome	Abnormal basal ganglia MRI signal intensity, Skeletal muscle atrophy, Neuronal loss in basal gang...	ORPHA:506
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Lateral ventricle dilatation, Thin corpus callosum, Microcephaly	OMIM:615716
Chronic Pneumonitis Of Infancy	Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi...	ORPHA:91359
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Rhombencephalosynapsis	Septo-optic dysplasia, Aganglionic megacolon, Hydrocephalus, Fusion of the left and right thalami...	ORPHA:59315
New-Onset Refractory Status Epilepticus	Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal...	ORPHA:363558
Giant Axonal Neuropathy 1, Autosomal Recessive	Lateral ventricle dilatation, Distal amyotrophy, Facial palsy	OMIM:256850
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress, Respiratory insufficiency	ORPHA:238329
Severe X-Linked Intellectual Disability, Gustavson Type	Dilated fourth ventricle, Microcephaly, Optic atrophy, Contractures of the large joints, Lateral ...	ORPHA:3078
Pleural Mesothelioma	Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion	ORPHA:50251
Duplication Of The Pituitary Gland	Encephalocele, Abnormal midbrain morphology, Microcephaly, Abnormal pituitary gland morphology, A...	ORPHA:314621
Dystonia 31	Abnormal posturing	OMIM:619565
Cryptogenic Organizing Pneumonia	Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P...	ORPHA:1302
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Multifocal hyperintensity of cerebral white matter on MRI, Ventriculomegaly, Dysplastic corpus ca...	ORPHA:488627
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Lethal Osteosclerotic Bone Dysplasia	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:1832
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance	OMIM:619466
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Abnormal cerebral white matter morphology, Orthostatic hy...	OMIM:263570
Coach Syndrome 2	Molar tooth sign on MRI, Hydrocephalus, Agenesis of corpus callosum	OMIM:619111
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Thin corpus callosum, Hypoplasia of the corpus callosum, Microcephaly	OMIM:614105
Gaucher Disease Type 2	Respiratory distress, Abnormal pattern of respiration, Cough	ORPHA:77260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:616437
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Periventricular cysts, Thick corpus callosum, Lateral ventricle dilat...	ORPHA:544488
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P...	OMIM:613954
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Lateral ventricle dilatation, Multifocal cerebral white matter abnormalities	OMIM:600721
Perching Syndrome	Respiratory distress	OMIM:617055
Cog5-Cdg	Diffuse cerebral atrophy, Cerebral white matter atrophy, Neurogenic bladder, Camptodactyly of fin...	ORPHA:263487
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Primary microcephaly	OMIM:618010
Pulmonary Non-Tuberculous Mycobacterial Infection	Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta...	ORPHA:411703
Wars2-Related Combined Oxidative Phosphorylation Defect	Dilated fourth ventricle, Leukoencephalopathy, Cerebral atrophy, Hypoplasia of the brainstem, Lat...	ORPHA:572798
Interstitial Pneumonitis, Desquamative, Familial	Respiratory distress, Respiratory failure, Tachypnea, Cough	OMIM:263000
Familial Nasal Acilia	Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis	ORPHA:922
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of corpus callosum, Camptodactyly	OMIM:614815
Panhypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95513
Congenital Myopathy 10A, Severe Variant	Respiratory distress, Restrictive ventilatory defect, Respiratory failure, Respiratory insufficiency	OMIM:614399
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Neurona...	ORPHA:275872
Adenohypophysitis	Orthostatic hypotension, Reduced circulating prolactin concentration, Adrenocorticotropic hormone...	ORPHA:95512
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Joubert Syndrome 31	Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum	OMIM:617761
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Cerebral white matter atrophy, Flexion contracture, Abnormal caudate nucleus morphology, Lateral ...	ORPHA:2148
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Lateral ventricle dilatation, Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral w...	OMIM:620075
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, R...	ORPHA:70595
2,4-Dienoyl-Coa Reductase Deficiency	Death in infancy, Microcephaly, Hydrocephalus, Optic atrophy, Cerebral atrophy, Colpocephaly, Hyp...	OMIM:616034
Congenital Laryngeal Web	Respiratory distress, Stridor	ORPHA:2374
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Tay-Sachs Disease	Skeletal muscle atrophy, Hypointensity of cerebral white matter on MRI, Hip flexor weakness, Quad...	ORPHA:845
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Death in infancy, Focal T2 hyperintense thalamic lesion	OMIM:619046
Hydranencephaly	Ventriculomegaly, Optic nerve hypoplasia, Thalamic edema, Cerebral cortical atrophy, Primary micr...	ORPHA:2177
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:300580
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy	OMIM:105500
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Flexion contracture, Lateral ventricle dilatation, Small pituitary gland, Hypoplasia of the corpu...	OMIM:619479
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr...	OMIM:606070
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Small thenar eminence, Lateral ventricle dilatation, Joint contracture of the 4th finger, Joint c...	OMIM:618914
Aicardi Syndrome	Spina bifida, Microcephaly, Pachygyria, Partial agenesis of the corpus callosum, Optic disc colob...	OMIM:304050
Pontocerebellar Hypoplasia Type 2	Ventriculomegaly, Abnormal cortical gyration, Dysplastic corpus callosum, Hypoplasia of the ventr...	ORPHA:2524
Surfactant Metabolism Dysfunction, Pulmonary, 3	Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p...	OMIM:610921
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Trisomy 13	Anophthalmia, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Atrial septal defect, Mi...	ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Autosomal Recessive Spastic Paraplegia Type 66	Colpocephaly, Lower limb amyotrophy, Hypoplasia of the corpus callosum, Limb hypertonia	ORPHA:401815
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Multiple joint contractures, Camptodactyly of finger, Microcephaly, Aplasia/Hypoplasia of the cor...	ORPHA:2570
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Su...	ORPHA:276244
Progeria-Short Stature-Pigmented Nevi Syndrome	Multiple joint contractures, Abnormal thalamus morphology, Microcephaly	ORPHA:2959
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m...	ORPHA:206448
Cardiomyopathy, Familial Hypertrophic, 27	Cardiomegaly, Concentric hypertrophic cardiomyopathy, Ventricular septal hypertrophy, Cardiomyocy...	OMIM:618052
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity	ORPHA:309155
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, C...	OMIM:105550
Holoprosencephaly 7	Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, P...	OMIM:610828
Amoebiasis Due To Free-Living Amoebae	Myocardial necrosis, Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial ...	ORPHA:68
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum	ORPHA:488635
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Basel-Vanagaite-Smirin-Yosef Syndrome	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, ...	ORPHA:464738
Cardiomyopathy, Dilated, 2H	Neonatal death, Tachypnea, Cardiorespiratory arrest	OMIM:620203
Mitochondrial Complex I Deficiency, Nuclear Type 39	Atrial septal defect, Hypertrophic cardiomyopathy, Perimembranous ventricular septal defect, Card...	OMIM:620135
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:607131
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Death in childhood, Primary microce...	OMIM:619847
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress, Lymphocytic interstitial pneumonia	OMIM:245590
Chromosome 6Q24-Q25 Deletion Syndrome	Probst bundles, Hydrocephalus, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Combined Oxidative Phosphorylation Deficiency 30	Respiratory distress, Death in infancy	OMIM:616974
Lethal Congenital Contracture Syndrome 1	Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N...	OMIM:253310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Anophthalmia, Ventricular septal defect	ORPHA:77298
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp...	ORPHA:254875
Pseudo-Torch Syndrome 2	Cerebral calcification, Microcephaly, Lateral ventricle dilatation, Polymicrogyria, Ventriculomegaly	OMIM:617397
Mucolipidosis Iv	Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly	OMIM:252650
Linear Skin Defects With Multiple Congenital Anomalies 2	Optic disc pallor, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callos...	OMIM:300887
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
X-Linked Intellectual Disability, Wilson Type	Lateral ventricle dilatation, Microcephaly	ORPHA:85290
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal brainstem morphology, Simplified gyral pattern, Abnormal cerebral cortex ...	ORPHA:411493
Ravine Syndrome	Abnormal basal ganglia morphology, Abnormal brainstem morphology, Abnormal auditory evoked potent...	ORPHA:99852
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Congenital Toxoplasmosis	Microphthalmia, Hepatomegaly, Cardiomegaly	ORPHA:858
Neurooculocardiogenitourinary Syndrome	Ventricular septal defect, Cardiomegaly, Atrial septal defect, Microphthalmia, Patent foramen ovale	OMIM:618652
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia	ORPHA:380
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w...	ORPHA:254864
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha...	OMIM:620156
Aicardi-Goutieres Syndrome 9	Cerebral calcification, Microcephaly, Basal ganglia calcification, Optic atrophy, Diffuse leukoen...	OMIM:619487
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness	ORPHA:2590
Congenital Disorder Of Glycosylation, Type Iu	Respiratory distress, Death in infancy, Neonatal respiratory distress	OMIM:615042
Distal Deletion 10Q	Scapular winging, Microcephaly, Facial diplegia, Lateral ventricle dilatation, Cavum septum pellu...	ORPHA:96148
Surfactant Metabolism Dysfunction, Pulmonary, 2	Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force...	OMIM:610913
Staphylococcal Necrotizing Pneumonia	Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf...	ORPHA:36238
Malaria	Respiratory distress	ORPHA:673
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Congenital muscular torticollis, Abnormal cerebral white matter morphology, Lateral ventricle dil...	ORPHA:457279
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Hand muscle atrophy, Amyotrophic lateral sclerosis, Skele...	OMIM:205100
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Achilles tendon contracture	OMIM:607225
Joubert Syndrome 7	Encephalocele, Brainstem dysplasia, Hypoplasia of the brainstem, Molar tooth sign on MRI, Abnorma...	OMIM:611560
Congenital Pulmonary Lymphangiectasia	Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu...	ORPHA:2414
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Mosaic Trisomy 1	Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow flexion contracture, Lateral vent...	ORPHA:1692
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Flexion contracture, Lissenceph...	OMIM:614833
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Joubert Syndrome With Renal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyria, Age...	ORPHA:220497
Thyroid Lymphoma	Respiratory distress, Dyspnea, Stridor, Upper airway obstruction	ORPHA:97285
Meconium Aspiration Syndrome	Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,...	ORPHA:70588
Combined Oxidative Phosphorylation Deficiency 8	Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614096
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Congenital Disorder Of Glycosylation, Type Iig	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Camptodactyly, Left ventricular hyp...	OMIM:611209
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy	OMIM:617892
Avian Influenza	Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac...	ORPHA:454836
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hip contracture, Cerebral calcification, Muscle hemorrhage, Abnormal basal ganglia morphology, Ab...	ORPHA:464321
Meningioma	Enlarged pituitary gland, Papilledema, Facial palsy, Reduced circulating prolactin concentration,...	ORPHA:2495
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Lateral ventricle dilatation, Microcephaly	OMIM:619278
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials	ORPHA:529799
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
Central Neurocytoma	Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology	ORPHA:73256
Microphthalmia, Syndromic 9	Anophthalmia, Ventricular septal defect, Bilateral microphthalmos, Hypoplastic left atrium, Pulmo...	OMIM:601186
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lateral ventricle dilatation, Lower limb hypertonia	OMIM:619995
Attrv30M Amyloidosis	Cardiomyopathy, Cardiomegaly	ORPHA:85447
Aceruloplasminemia	Torticollis, Abnormal thalamic MRI signal intensity, Abnormal corpus striatum morphology	ORPHA:48818
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Hypoplasia of the corpus callosum, Ab...	OMIM:616900
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Acute Lung Injury	Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:178320
Combined Oxidative Phosphorylation Deficiency 54	Optic disc pallor, Dysplastic corpus callosum, Secondary microcephaly, Periventricular white matt...	OMIM:619737
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Joubert Syndrome With Ocular Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Molar tooth sign on MRI, Polymicrogyria, Age...	ORPHA:220493
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Pituitary hypothyroidism, Decreased response to growth hormone ...	OMIM:614963
Hereditary Cryohydrocytosis With Reduced Stomatin	Communicating hydrocephalus, Intracerebral periventricular calcifications, Microcephaly, Decrease...	ORPHA:168577
Joubert Syndrome 10	Molar tooth sign on MRI	OMIM:300804
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Dege...	OMIM:105400
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m...	ORPHA:293725
Anaplastic Thyroid Carcinoma	Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough	ORPHA:142
Epidermolysis Bullosa With Diaphragmatic Hernia	Neonatal death, Congenital diaphragmatic hernia	OMIM:226735
Familial Atrial Myxoma	Pulmonic valve myxoma, Cardiac myxoma, Bacterial endocarditis, Cardiomegaly	ORPHA:615
Auriculocondylar Syndrome 2A	Respiratory distress, Apnea	OMIM:614669
Joubert Syndrome 14	Encephalocele, Hydrocephalus, Meningocele, Optic atrophy, Hypoplasia of the brainstem, Hypoplasia...	OMIM:614424
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Microcephaly	OMIM:619955
Joubert Syndrome 22	Molar tooth sign on MRI, Temporal cortical atrophy, Hypoplasia of the corpus callosum	OMIM:615665
Halperin-Birk Syndrome	Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Colpocephaly, Death in child...	OMIM:618651
Mitochondrial Complex I Deficiency, Nuclear Type 36	Perimembranous ventricular septal defect, Cardiomegaly	OMIM:619170
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Microcephaly, Hypoplasia of the pons, Optic atrophy, Hypoplastic anterior commissure, Hypoplasia ...	OMIM:616975
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies, Cerebral cortical atrophy	OMIM:607485
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Osteopetrosis, Autosomal Recessive 7	Death in infancy, Hydrocephalus, Optic atrophy, Lateral ventricle dilatation, Death in childhood,...	OMIM:612301
Congenitally Uncorrected Transposition Of The Great Arteries	Levotransposition of the great arteries, Hepatomegaly, Ventricular septal defect, Abnormal pulmon...	ORPHA:860
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress, Respiratory insufficiency due to muscle weakness	OMIM:613561
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure	OMIM:614299
Den Hoed-De Boer-Voisin Syndrome	Microcephaly, Death in adolescence, Lateral ventricle dilatation, Secondary microcephaly, Ventric...	OMIM:619229
Bainbridge-Ropers Syndrome	Death in infancy, Microcephaly, Contracture of the proximal interphalangeal joint of the 4th fing...	OMIM:615485
Congenital Disorder Of Glycosylation, Type Ix	Respiratory distress, Death in childhood	OMIM:615597
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox...	OMIM:610978
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Microcephaly, Dysplastic corpus callosum, Flexion contracture, Simplified gyral pattern, Hypoplas...	OMIM:620001
Trisomy 1Q	Anophthalmia, Ventricular septal defect	ORPHA:261344
Ciliary Dyskinesia, Primary, 2	Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia	OMIM:606763
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hip contracture, Death in infancy, Absent septum pellucidum, Microcephaly, Flexion contracture, E...	OMIM:300868
Joubert Syndrome 2	Encephalocele, Enlarged fossa interpeduncularis, Brainstem dysplasia, Hydrocephalus, Optic disc c...	OMIM:608091
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Flexion contracture	OMIM:617562
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal thalamic MRI signal intensity, ...	ORPHA:79138
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele, Ventriculomegaly	OMIM:612285
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Camptodactyly, Molar tooth sign o...	OMIM:614175
Microphthalmia, Syndromic 5	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610125
X-Linked Centronuclear Myopathy	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia	ORPHA:596
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612577
Idiopathic Neonatal Atrial Flutter	Respiratory distress, Tachypnea	ORPHA:45452
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Gómez-López-Hernández Syndrome	Hydrocephalus, Abnormal brainstem morphology	ORPHA:1532
N-Acetylglutamate Synthase Deficiency	Respiratory distress	OMIM:237310
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Congenital Diaphragmatic Hernia	Respiratory distress, Hypoxemia	ORPHA:2140
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent septum pellucidum, Decreased response to growth hormone stimulatio...	OMIM:609053
Meckel Syndrome, Type 4	Encephalocele, Microcephaly, Hydrocephalus, Meningocele, Anencephaly, Hypoplasia of the corpus ca...	OMIM:611134
Joubert Syndrome 30	Molar tooth sign on MRI, Dandy-Walker malformation, Ventriculomegaly	OMIM:617622
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes...	OMIM:620352
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Respiratory distress, Dyspnea, Cough	ORPHA:86812
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern...	OMIM:615219
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor	OMIM:617121
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Weaver Syndrome	Diastasis recti, Absent septum pellucidum, Lateral ventricle dilatation, Camptodactyly, Joint con...	OMIM:277590
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Microcephaly, Hydrocephalus, Optic atrophy, Colpocephaly, Distal arthrogryposis, Periventricular ...	OMIM:619833
Nipah Virus Disease	Respiratory distress, Cough	ORPHA:99825
Linear Skin Defects With Multiple Congenital Anomalies 3	Lateral ventricle dilatation, Agenesis of corpus callosum	OMIM:300952
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Respiratory distress, Paradoxical respiration	OMIM:620011
Surfactant Metabolism Dysfunction, Pulmonary, 1	Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ...	OMIM:265120
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly	OMIM:600649
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Thickened superior cerebellar pe...	OMIM:609583
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Microcephal...	ORPHA:177907
Craniopharyngioma	Enlarged pituitary gland, Papilledema, Cerebral calcification, Neoplasm of the anterior pituitary...	ORPHA:54595
Noonan Syndrome 14	Scapular winging, Lateral ventricle dilatation	OMIM:619745
Ane Syndrome	Multiple joint contractures, Anterior pituitary hypoplasia, Decreased response to growth hormone ...	ORPHA:157954
Brown-Vialetto-Van Laere Syndrome 1	Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory in...	OMIM:211530
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Partial agenesis of the corpus callosum, Flexion contracture, Microlissencephaly, Knee flexion co...	OMIM:210710
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Pulmonary arterial hypertension, Abnormal posturing, Tachypnea	OMIM:614857
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the intrinsic hand muscles	OMIM:614373
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing, Aspiration pneumonia, Cough	ORPHA:216866
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Idiopathic Camptocormia	Amyotrophic lateral sclerosis, Myositis, Fatty replacement of skeletal muscle, Abnormal muscle fi...	ORPHA:1320
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress, Respiratory insufficiency due to muscle weakness	ORPHA:1143
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments	Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ...	ORPHA:412066
Folinic Acid-Responsive Seizures	Respiratory distress, Apnea	ORPHA:79097
Orofaciodigital Syndrome Vi	Porencephalic cyst, Hypothalamic hamartoma, Molar tooth sign on MRI, Occipital meningocele, Polym...	OMIM:277170
Hernia, Anterior Diaphragmatic	Neonatal death, Congenital diaphragmatic hernia	OMIM:306950
Congenital Tricuspid Valve Dysplasia	Hepatomegaly, Cardiomegaly, Pericardial effusion, Anomalous pulmonary venous return, Abnormal tri...	ORPHA:555874
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Microcephaly, Dysplastic corpus callosum, Flexion contracture, Death in childhood, Camptodactyly	OMIM:604273
Fixed Subaortic Stenosis	Bicuspid aortic valve, Ventricular septal defect, Cardiomegaly, Abnormal heart morphology, Abnorm...	ORPHA:3092
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Amyotrophic Lateral Sclerosis 20	Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy	OMIM:615426
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Weiss-Kruszka Syndrome	Colpocephaly, Hypoplasia of the corpus callosum, Left ventricular hypertrophy, Agenesis of corpus...	OMIM:618619
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Colpocephaly, Polymicrogyria, Microcephaly	OMIM:618731
Joubert Syndrome 1	Optic disc pallor, Enlarged fossa interpeduncularis, Brainstem dysplasia, Microcephaly, Optic dis...	OMIM:213300
Joubert Syndrome 32	Molar tooth sign on MRI, Polymicrogyria	OMIM:617757
Infantile Sialic Acid Storage Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:269920
Odontochondrodysplasia	Respiratory distress, Death in infancy	ORPHA:166272
Uruguay Faciocardiomusculoskeletal Syndrome	Ventricular hypertrophy, Left atrial enlargement, Cardiomegaly, Cardiomyopathy, Left ventricular ...	OMIM:300280
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Cerebellar-Facial-Dental Syndrome	Foot joint contracture, Abnormal midbrain morphology, Microcephaly, Hypoplasia of the pons, Hypop...	ORPHA:444072
Slc35A1-Cdg	Respiratory distress, Pneumonia, Hypoxemia	ORPHA:238459
Joubert Syndrome With Oculorenal Defect	Encephalocele, Aganglionic megacolon, Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, M...	ORPHA:2318
Myotubular Myopathy With Abnormal Genital Development	Respiratory distress, Death in infancy, Neonatal death	OMIM:300219
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress, Upper airway obstruction	ORPHA:100057
Gabriele-De Vries Syndrome	Cortical dysplasia, Distal arthrogryposis, Facial hypotonia, Lateral ventricle dilatation	OMIM:617557
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Hepatomegaly, Cardiomegaly	OMIM:619064
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Infant Acute Respiratory Distress Syndrome	Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure	ORPHA:70587
Combined Oxidative Phosphorylation Deficiency 53	Death in infancy, Dysplastic corpus callosum, Secondary microcephaly, Generalized amyotrophy, Dea...	OMIM:619423
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Joubert Syndrome 6	Dilated fourth ventricle, Enlarged fossa interpeduncularis, Hypoplasia of the brainstem, Molar to...	OMIM:610688
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Choanal Atresia	Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal...	ORPHA:137914
Hypoglossia With Situs Inversus	Respiratory distress, Upper airway obstruction	OMIM:612776
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Respiratory distress, Death in infancy, Inspiratory stridor, Irregular respiration	OMIM:604377
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Corpus callosum atrophy, Generalized amyotrophy	OMIM:601162
Mulibrey Nanism	Hepatomegaly, Myocardial fibrosis, Pericardial constriction, Cardiomegaly	OMIM:253250
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Hydrocephalus, Abnormal brainstem morphology, Abnormal cerebral cortex morphology, Dandy-Walker m...	ORPHA:163961
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2759
Attrv122I Amyloidosis	Cardiomegaly, Hypertrophic cardiomyopathy, Aortic valve stenosis, Left ventricular hypertrophy, R...	ORPHA:85451
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Congenital diaphragmatic hernia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Hypopla...	OMIM:616546
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomegaly, Cardiomyopathy, Endocardial fibroelastosis, Hypertrophic cardiomyopathy	OMIM:212140
Combined Oxidative Phosphorylation Deficiency 10	Pericardial effusion, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:614702
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular hypertrophy, Hepatomegaly, Cardiomegaly, Pericardial effusion, Muscular ventricular s...	OMIM:115197
Joubert Syndrome 37	Molar tooth sign on MRI, Hypoplasia of the corpus callosum	OMIM:619185
Acquired Methemoglobinemia	Respiratory distress, Dyspnea, Hypoxemia	ORPHA:464453
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:205200
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Gangliocytoma	Pituitary null cell adenoma, Elevated circulating growth hormone concentration, Abnormal pituitar...	ORPHA:251937
Helsmoortel-Van Der Aa Syndrome	Facial palsy, Decreased response to growth hormone stimulation test, Pineal cyst, Lateral ventric...	OMIM:615873
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:205250
Tularemia	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:3392
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:619051
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis, Distal amyotrophy	OMIM:611895
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Developmental And Epileptic Encephalopathy 49	Ventriculomegaly, Cerebral calcification, Microcephaly, Dysplastic corpus callosum, Hydrocephalus...	OMIM:617281
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia, Microphthalmia	OMIM:206900
Mucopolysaccharidosis, Type Iiib	Splenomegaly, Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly	OMIM:252920
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Decreased response to growth hormone stimulation test, Microcephaly, Colpocephaly, Hypoplasia of ...	OMIM:617260
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Anophthalmia, Tricuspid valve prolapse	ORPHA:1101
Fibular Hemimelia	Anophthalmia, Abnormal heart morphology	ORPHA:93323
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Proximal amyotrophy	OMIM:608030
Neurocardiofaciodigital Syndrome	Dilated fourth ventricle, Optic disc pallor, Microcephaly, Lateral ventricle dilatation, Hypoplas...	OMIM:619869
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Holoprosencephaly, Microcephaly	ORPHA:2165
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Nasolacrimal Duct Cyst	Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre...	ORPHA:141083
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Intellectual Disability-Strabismus Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microceph...	ORPHA:363528
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoglycosylation of alpha-dystroglycan, Abnormal brainstem morphology, Abnormal pons morphology,...	ORPHA:370997
Coronary Arterial Fistula	Bicuspid aortic valve, Cardiomegaly, Abnormal heart morphology, Right ventricular dilatation, Bac...	ORPHA:2041
Neuraminidase Deficiency	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:256550
Spinocerebellar Ataxia Type 1	Skeletal muscle atrophy, Optic atrophy, Abnormal brainstem morphology, Abnormality of masticatory...	ORPHA:98755
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology, Neurofibrillary tangles, Temporal cortical atrophy, Front...	ORPHA:100070
Oculocerebral Hypopigmentation Syndrome, Preus Type	Hydrocephalus, Abnormality of the diencephalon, Abnormal brainstem morphology	ORPHA:2720
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Acrocallosal Syndrome	Dandy-Walker malformation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus call...	ORPHA:36
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Amyotrophic Lateral Sclerosis 18	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:614808
Cockayne Syndrome Type 1	Hepatomegaly, Anophthalmia	ORPHA:90321
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Inhalational Anthrax	Respiratory distress, Dyspnea	ORPHA:247257
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Chitayat Syndrome	Respiratory distress, Tracheomalacia	OMIM:617180
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ventriculomegaly, Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Simplified g...	ORPHA:500150
Orofaciodigital Syndrome Type 14	Dilated fourth ventricle, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of th...	ORPHA:434179
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Autosomal Recessive Cutis Laxa Type 2A	Dilated fourth ventricle, Thick cerebral cortex, Dysplastic corpus callosum, Secondary microcepha...	ORPHA:357058
Mercury Poisoning	Respiratory distress, Dyspnea, Respiratory failure, Interstitial pneumonitis	ORPHA:330021
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes...	ORPHA:348
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Holoprosencephaly	Anophthalmia, Ventricular septal defect, Abnormal pulmonary valve morphology, Microphthalmia, Tet...	ORPHA:2162
Pulmonary Hypertension, Primary, 3	Increased pulmonary vascular resistance, Dyspnea, Elevated pulmonary artery pressure, Pulmonary a...	OMIM:615343
Timothy Syndrome	Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly	OMIM:601005
Cantu Syndrome	Pericardial effusion, Congenital hypertrophy of left ventricle, Bicuspid aortic valve, Cardiomegaly	OMIM:239850
Choreoacanthocytosis	Caudate atrophy, Peroneal muscle atrophy, Abnormal putamen morphology, Decreased amplitude of sen...	ORPHA:2388
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2754
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology, Scapular winging, Optic atrophy, Distal amyotrophy, Eye o...	OMIM:614298
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Cerebral calcification, Decreased response to growth hormo...	ORPHA:1855
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype...	OMIM:616482
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Isolated Right Ventricular Hypoplasia	Cardiomegaly, Muscular ventricular septal defect, Atrial septal defect, Patent foramen ovale, Rig...	ORPHA:439
Congenital Tracheomalacia	Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn...	ORPHA:95430
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress, Respiratory failure	OMIM:620166
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Skeletal muscle atrophy, Amyotrophic lateral sclerosis	OMIM:612069
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Congenital diaphragmatic hernia, Microcephaly	ORPHA:438134
Chromosome 1P36 Deletion Syndrome, Distal	Optic disc pallor, Camptodactyly of finger, Microcephaly, Hydrocephalus, Optic disc coloboma, Opt...	OMIM:607872
Microcephaly 26, Primary, Autosomal Dominant	Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern, Hypoplasia of the corpus call...	OMIM:619179
Holocarboxylase Synthetase Deficiency	Respiratory distress, Tachypnea	ORPHA:79242
Microgastria-Limb Reduction Defect Syndrome	Hepatomegaly, Anophthalmia, Atrial septal defect, Microphthalmia, Truncus arteriosus	ORPHA:2538
Hemochromatosis, Type 1	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:235200
Odontochondrodysplasia 1	Respiratory distress, Death in infancy	OMIM:184260
Aorta Coarctation	Bicuspid aortic valve, Cardiomegaly, Aortic valve atresia, Perimembranous ventricular septal defe...	ORPHA:1457
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat...	OMIM:220110
Coach Syndrome 1	Molar tooth sign on MRI, Optic disc pallor, Occipital encephalocele, Encephalocele	OMIM:216360
Joubert Syndrome 38	Molar tooth sign on MRI, Ectopic posterior pituitary, Small pituitary gland, Decreased response t...	OMIM:619476
Emanuel Syndrome	Ventriculomegaly, Multiple joint contractures, Congenital diaphragmatic hernia, Microcephaly, Hyd...	ORPHA:96170
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Amyotrophic Lateral Sclerosis 8	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal amyotrophy, Proximal amyotrophy	OMIM:608627
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Partial agenesis of the corpus callosum, Colpocephaly, Secondary microcephaly, Hypoplasia of the ...	OMIM:620113
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Neonatal death, Dysplastic corpus callosum	OMIM:618810
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Cerebral cortical atrophy, Congenital diaphragmatic hernia, Microcephaly	ORPHA:1166
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Mitral valve prolapse, Abnormal atrioventricular valve morphology, Cardiom...	ORPHA:324410
Schisis Association	Encephalocele, Congenital diaphragmatic hernia, Spina bifida, Microcephaly, Anencephaly	ORPHA:63862
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Cardiomegaly, Splenomegaly, Aortic valve calcification,...	OMIM:231005
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Microcephaly	OMIM:618367
Keppen-Lubinsky Syndrome	Lateral ventricle dilatation, Flexion contracture, Microcephaly	OMIM:614098
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Neurogenic bladder, Amyotrophic lateral sclerosis, Cerebral cortical atrophy	OMIM:615911
15Q24 Microdeletion Syndrome	Myelomeningocele, Decreased response to growth hormone stimulation test, Congenital diaphragmatic...	ORPHA:94065
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Lateral ventricle dilatation, Pachygyria	OMIM:263520
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Triosephosphate Isomerase Deficiency	Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Respira...	OMIM:615512
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Dilated cardiomyopathy, Mitral valve prolapse, Abnormal cardiac septum morphology, ...	ORPHA:2556
Craniofrontonasal Dysplasia	Congenital diaphragmatic hernia, Camptodactyly of finger, Hypoplasia of the corpus callosum, Micr...	ORPHA:1520
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Synaptic Congenital Myasthenic Syndromes	Respiratory distress, Hypoventilation, Neonatal respiratory distress, Respiratory insufficiency, ...	ORPHA:98915
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress, Respiratory failure	OMIM:617895
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Ragged-red muscle fibers, Leukoencephalopathy, Hypoplasia of the corp...	OMIM:614924
Vocal Cord And Pharyngeal Distal Myopathy	Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con...	ORPHA:600
Refsum Disease, Classic	Cardiomyopathy, Cardiomegaly	OMIM:266500
Tetanus	Respiratory distress, Tachypnea	ORPHA:3299
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy	ORPHA:79279
Emanuel Syndrome	Torticollis, Ventriculomegaly, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Cere...	OMIM:609029
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Hepatomegaly, Cardiomegaly	ORPHA:42
Joubert Syndrome 8	Molar tooth sign on MRI, Optic disc pallor, Occipital encephalocele	OMIM:612291
Oculocerebrofacial Syndrome, Kaufman Type	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2707
Oculocerebrocutaneous Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Hydrocephalus, Aplasia/Hypoplasia of the corpu...	ORPHA:1647
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of t...	OMIM:222448
Carnitine Palmitoyltransferase I Deficiency	Hepatomegaly, Cardiomegaly	OMIM:255120
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress, Stridor	OMIM:615595
Heterotaxy, Visceral, 1, X-Linked	Cardiomegaly, Dextrotransposition of the great arteries, Atrial septal defect, Atrioventricular c...	OMIM:306955
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Microphthalmia, Syndromic 2	Anophthalmia, Ventricular septal defect, Dextrocardia, Double outlet right ventricle, Mitral valv...	OMIM:300166
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood	OMIM:620278
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Moebius Syndrome	Respiratory distress	OMIM:157900
Agnathia-Otocephaly Complex	Respiratory distress, Tracheomalacia	OMIM:202650
Combined Oxidative Phosphorylation Deficiency 33	Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly	OMIM:617713
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ...	OMIM:618426
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress, Pulmonary arterial hypertension	OMIM:619272
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Flexion contracture, ...	ORPHA:261552
Multiple Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Neonatal death	OMIM:231680
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI, Ventriculomegaly	OMIM:617563
Hsd10 Disease, Infantile Type	Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:391428
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal brainstem morphology	ORPHA:370022
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Hepatomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	OMIM:201475
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Respiratory distress, Stillbirth	OMIM:151210
Arterial Calcification, Generalized, Of Infancy, 2	Right atrial enlargement, Cardiomegaly	OMIM:614473
16Q24.3 Microdeletion Syndrome	Colpocephaly, Optic nerve hypoplasia, Hypoplasia of the corpus callosum, Ventriculomegaly	ORPHA:261250
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Ventriculomegaly, Camptodactyly of finger, Mic...	OMIM:249000
Idiopathic Pulmonary Hemosiderosis	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	ORPHA:99931
Peroxisome Biogenesis Disorder 5A (Zellweger)	Death in infancy, Optic nerve dysplasia, Optic atrophy, Macrogyria, Death in adolescence, Colpoce...	OMIM:614866
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Hypertrophic cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:616897
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Cerebellofaciodental Syndrome	Microcephaly, Hypoplasia of the pons, Hypoplasia of the midbrain, Thin corpus callosum, Ventricul...	OMIM:616202
Radio-Renal Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion	ORPHA:3015
Cerebrooculonasal Syndrome	Anophthalmia, Optic nerve hypoplasia	OMIM:605627
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Death in infancy, Ventriculomegaly, Congenital diaphragmatic hernia, Spina bifida	ORPHA:1120
Lenz-Majewski Hyperostotic Dwarfism	Anterior pituitary hypoplasia, Microcephaly, Dysplastic corpus callosum, Elbow flexion contractur...	OMIM:151050
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc...	OMIM:619103
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Double Outlet Left Ventricle	Double outlet left ventricle, Ventricular septal defect, Cardiomegaly, Bicuspid pulmonary valve, ...	ORPHA:3427
Gaucher Disease, Perinatal Lethal	Respiratory distress, Apnea, Neonatal death	OMIM:608013
Linear Skin Defects With Multiple Congenital Anomalies 1	Absent septum pellucidum, Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Colpoceph...	OMIM:309801
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Microcephaly, Partial agenesis of the corpus callosum, Optic disc colobo...	OMIM:615948
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Congenital Disorder Of Glycosylation, Type Iim	Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly	OMIM:300896
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2143
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Beck-Fahrner Syndrome	Ventricular septal defect, Cardiomegaly	OMIM:618798
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress, Respiratory insufficiency	ORPHA:367
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Pachygyria, Polymicrogyria	ORPHA:2328
Tonne-Kalscheuer Syndrome	Congenital diaphragmatic hernia, Microcephaly	OMIM:300978
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia	ORPHA:2141
Proximal 16P11.2 Microduplication Syndrome	Abnormal basal ganglia MRI signal intensity, Congenital diaphragmatic hernia, Microcephaly	ORPHA:370079
Cerebrofacioarticular Syndrome	Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Camptodactyly, Agene...	ORPHA:314679
Charge Syndrome	Anophthalmia, Abnormal cardiac septum morphology, Abnormal aortic valve morphology, Microphthalmi...	ORPHA:138
Craniofaciofrontodigital Syndrome	Bicuspid aortic valve, Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, ...	ORPHA:363705
Cebalid Syndrome	Polymicrogyria, Congenital diaphragmatic hernia	OMIM:618774
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Lewy bodies, Limb muscle weakness	OMIM:619133
Diaphanospondylodysostosis	Respiratory distress, Tracheomalacia, Respiratory insufficiency	OMIM:608022
Biliary, Renal, Neurologic, And Skeletal Syndrome	Anterior pituitary hypoplasia, Aqueductal stenosis, Hydrocephalus, Frontotemporal cerebral atroph...	OMIM:619534
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea	ORPHA:26793
Fryns Syndrome	Ventriculomegaly, Aganglionic megacolon, Congenital diaphragmatic hernia, Agenesis of corpus call...	ORPHA:2059
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Microcephaly, Hydrocephalus, Flexion contr...	ORPHA:220386
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Cirrhotic Cardiomyopathy	Hepatomegaly, Left atrial enlargement, Cardiomegaly, Left ventricular hypertrophy, Right atrial e...	ORPHA:57777
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Microcephaly, Upper-limb joint contractur...	ORPHA:300605
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal midbrain morphology, Decreased response to growth hormone stimulation test, Adrenocortic...	ORPHA:293987
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory insufficien...	ORPHA:308552
Complete Atrioventricular Septal Defect	Hepatomegaly, Cardiomegaly, Complete atrioventricular canal defect, Primum atrial septal defect, ...	ORPHA:1329
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Camptodactyly	ORPHA:363444
Mucopolysaccharidosis-Plus Syndrome	Respiratory distress, Recurrent pneumonia, Death in childhood	OMIM:617303
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Kniest Dysplasia	Respiratory distress, Tracheomalacia	OMIM:156550
Proboscis Lateralis	Microphthalmia, Anophthalmia, Ventricular septal defect, Optic nerve hypoplasia	ORPHA:141099
Danon Disease	Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Myocardial fibrosis, Hypertrophic card...	OMIM:300257
Zaki Syndrome	Dilated fourth ventricle, Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Mic...	OMIM:619648
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Congenital Myasthenic Syndrome	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Sudden episodic apnea, Intermittent episodes of respiratory insufficiency due to muscle weakness,...	ORPHA:98914
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Fraser Syndrome 1	Anophthalmia, Bilateral microphthalmos, Abnormal heart morphology	OMIM:219000
Arima Syndrome	Dilated fourth ventricle, Brainstem dysplasia, Optic atrophy, Hypoplasia of the brainstem, Molar ...	OMIM:243910
Amyotrophic Lateral Sclerosis	Motor neuron atrophy, Skeletal muscle atrophy, Amyotrophic lateral sclerosis	ORPHA:803
Holoprosencephaly 9	Microphthalmia, Anophthalmia, Optic nerve hypoplasia	OMIM:610829
Thakker-Donnai Syndrome	Communicating hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia	ORPHA:1780
Holoprosencephaly 13, X-Linked	Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha...	OMIM:301043
47,Xyy Syndrome	Increased circulating gonadotropin level, Abnormal brainstem morphology, Hydrocephalus	ORPHA:8
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Intrinsic hand muscle atrophy, Hypoplasia of the corpus callosum, Mic...	OMIM:618569
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Molar tooth sign on MRI, Encephalocele, Stillbirth, Dandy-Walker malformation	OMIM:616300
Osteogenesis Imperfecta, Type X	Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood	OMIM:613848
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress, Recurrent pneumonia	OMIM:607143
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress, Pulmonary arterial hypertension	ORPHA:2519
Lymphatic Malformation 7	Respiratory distress, Pleural effusion, Chylothorax	OMIM:617300
Tetrasomy 5P	Respiratory distress, Pulmonary arterial hypertension	ORPHA:3309
Lowry-Maclean Syndrome	Hydrocephalus, Microcephaly, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2409
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Ankle flexion contracture, Microcephaly, Abnormal brainstem morphology, Poster...	ORPHA:464311
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Rodrigues Blindness	Nasal flaring	OMIM:268320
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Achondroplasia	Respiratory distress, Death in infancy, Upper airway obstruction	OMIM:100800
Charge Syndrome	Overriding aorta, Ventricular septal defect, Anophthalmia, Secundum atrial septal defect, Dysplas...	OMIM:214800
Naxos Disease	Abnormal morphology of right ventricular trabeculae, Right ventricular cardiomyopathy, Cardiomega...	OMIM:601214
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress, Neonatal respiratory distress, Tracheomalacia	OMIM:217980
Cutis Laxa-Marfanoid Syndrome	Flexion contracture, Congenital diaphragmatic hernia	ORPHA:171719
Brain-Lung-Thyroid Syndrome	Respiratory distress, Neonatal respiratory distress, Asthma, Recurrent pneumonia, Respiratory fai...	ORPHA:209905
Gillessen-Kaesbach-Nishimura Syndrome	Flexion contracture, Congenital diaphragmatic hernia, Microcephaly	OMIM:263210
Infantile Krabbe Disease	Respiratory distress, Respiratory failure	ORPHA:206436
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Fetal Encasement Syndrome	Congenital diaphragmatic hernia	OMIM:613630
Congenital Enterovirus Infection	Respiratory distress, Pleural effusion	ORPHA:292
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Cardiomegaly, Abnormally large globe, Mitral valve prolapse, Atrial septal...	OMIM:245600
Xp22.13P22.2 Duplication Syndrome	Congenital diaphragmatic hernia, Microcephaly	ORPHA:284180
Symptomatic Form Of Hfe-Related Hemochromatosis	Splenomegaly, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:465508
Mogs-Cdg	Respiratory distress, Hypoventilation, Apnea	ORPHA:79330
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aganglionic megacolon, Focal hypointensity of cerebral white matter on MRI, Flexion contracture, ...	ORPHA:261537
Chromosome 1Q41-Q42 Deletion Syndrome	Ventriculomegaly, Holoprosencephaly, Congenital diaphragmatic hernia, Microcephaly	OMIM:612530
Hereditary Angioedema Type 1	Respiratory distress, Dyspnea, Inspiratory stridor	ORPHA:100050
White-Sutton Syndrome	Facial hypotonia, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the pons, Optic at...	ORPHA:468678
White-Sutton Syndrome	Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Microcephaly, Cerebral...	OMIM:616364
Sandhoff Disease	Hepatosplenomegaly, Hepatomegaly, Cardiomegaly	OMIM:268800
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomyopathy, Cardiomegaly	OMIM:105210
Fucosidosis	Hepatomegaly, Cardiomegaly	ORPHA:349
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress, Recurrent pneumonia	OMIM:616271
Oculopharyngodistal Myopathy 1	Respiratory distress, Hypercapnia, Reduced forced vital capacity, Respiratory insufficiency due t...	OMIM:164310
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Optic disc pallor, Colpocephaly, Tethered cord, Microcephaly	OMIM:620083
Developmental Delay With Or Without Dysmorphic Facies And Autism	Congenital diaphragmatic hernia, Microcephaly, Optic disc coloboma, Hypoplasia of the corpus call...	OMIM:618454
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress, Pneumothorax	OMIM:620306
Iniencephaly	Encephalocele, Spina bifida, Congenital diaphragmatic hernia, Hydrocephalus, Myelomeningocele, An...	ORPHA:63259
Kabuki Syndrome 1	Hydrocephalus, Lateral ventricle dilatation, Microcephaly	OMIM:147920
Khan-Khan-Katsanis Syndrome	Tethered cord, Microcephaly, Colpocephaly, Joint contracture, Ventriculomegaly	OMIM:618460
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1834
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Bicuspid aortic valve, Ventricular septal defect, Partial atrioventricular canal defect, Cardiome...	OMIM:620066
Cantú Syndrome	Hypertrophic cardiomyopathy, Abnormal heart valve morphology, Cardiomegaly	ORPHA:1517
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia	ORPHA:268249
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomyopathy, Cardiomegaly	OMIM:619259
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Lethal Congenital Contracture Syndrome 10	Overriding aorta, Ventricular septal defect, Cardiomegaly	OMIM:617022
Bacterial Toxic-Shock Syndrome	Respiratory distress, Sinusitis, Tachypnea, Pneumonia	ORPHA:36234
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Farber Disease	Respiratory distress, Respiratory insufficiency	ORPHA:333
Genitourinary And/Or Brain Malformation Syndrome	Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop...	OMIM:618820
Neuromuscular Oculoauditory Syndrome	Respiratory distress, Aspiration	OMIM:618733
Glycogen Storage Disease Of Heart, Lethal Congenital	Cardiomegaly, Pericardial effusion, Increased myocardial glycogen content, Biventricular hypertro...	OMIM:261740
Autosomal Recessive Spondylocostal Dysostosis	Camptodactyly of finger, Congenital diaphragmatic hernia, Microcephaly, Meningocele, Spina bifida...	ORPHA:2311
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress, Restrictive ventilatory defect	OMIM:183900
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Macroglossia, Abnormality of the pineal gland, Hypoplasia of the corpus callosum	ORPHA:369950
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Neurofibrillary tangles, Amyotrophic lateral sclerosis	OMIM:619132
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Hepatomegaly, Dilated cardiomyopathy, Enlarged kidney, Cardiomegaly	OMIM:608836
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Abnormality of the diaphragm, Congenital diaphragmatic hernia	OMIM:601163
Unilateral Polymicrogyria	Abnormal posturing, Apnea, Epistaxis	ORPHA:268943
Arterial Tortuosity Syndrome	Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest	ORPHA:3342
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Pfeiffer Syndrome Type 2	Respiratory distress, Tracheomalacia	ORPHA:93259
Lujo Hemorrhagic Fever	Respiratory distress, Nonproductive cough, Rhinitis, Crackles	ORPHA:319213
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Congenital Disorder Of Glycosylation, Type It	Hepatomegaly, Dilated cardiomyopathy, Ventricular septal defect, Cardiomegaly	OMIM:614921
Cryptococcosis	Respiratory distress, Pneumonia, Dyspnea, Cough, Pleural effusion	ORPHA:1546
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Sickle Cell Disease	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:603903
Nocardiosis	Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl...	ORPHA:31204
Sepsis In Premature Infants	Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance	ORPHA:90051
Hydrolethalus Syndrome 1	Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal...	OMIM:236680
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Pfeiffer Syndrome Type 3	Respiratory distress, Tracheomalacia	ORPHA:93260
Proximal 16P11.2 Microdeletion Syndrome	Ventriculomegaly, Syringomyelia, Congenital diaphragmatic hernia	ORPHA:261197
Arterial Calcification, Generalized, Of Infancy, 1	Dilated cardiomyopathy, Cardiomegaly	OMIM:208000
Lethal Acantholytic Erosive Disorder	Cardiomyopathy, Cardiomegaly	ORPHA:158687
Esophageal Atresia	Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v...	ORPHA:1199
Wilson Disease	Decreased nerve conduction velocity, Limb muscle weakness, Face of the giant panda sign	OMIM:277900
Seckel Syndrome 9	Ventriculomegaly, Simplified gyral pattern, Congenital diaphragmatic hernia, Microcephaly	OMIM:616777
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Splenomegaly, Hepatosplenomegaly, Mitral v...	OMIM:602782
Focal Dermal Hypoplasia	Aniridia, Microphthalmia, Anophthalmia	OMIM:305600
Genitopalatocardiac Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Microcephaly	ORPHA:2075
Cocaine Intoxication	Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Cough, Hyperventilation	ORPHA:90068
Familial Cerebral Saccular Aneurysm	Encephalomalacia, Abnormal brainstem morphology	ORPHA:231160
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress, Repeated pneumothoraces, Respiratory insufficiency, Restrictive ventilatory...	ORPHA:536467
Opitz Gbbb Syndrome	Ventriculomegaly, Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callosu...	ORPHA:2745
Glycogen Storage Disease Due To Acid Maltase Deficiency	Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in...	ORPHA:365
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress, Pulmonary arterial hypertension, Stridor, Airway obstruction	ORPHA:505248
Histiocytoid Cardiomyopathy	Hepatomegaly, Ventricular septal defect, Cardiomegaly, Microphthalmia, Congenital aphakia	ORPHA:137675
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum, Pineal cyst, Left ventricular noncompaction, R...	OMIM:300967
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Abnormal myocardium morphology, Hepatomegaly, Cardiomyopathy, Cardiomegaly	ORPHA:228308
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Right ventricular hypertrophy, Cardiomegaly	ORPHA:268
Q Fever	Respiratory distress, Pleural effusion, Pneumonia, Cough	ORPHA:781
Alternating Hemiplegia Of Childhood	Respiratory distress, Aspiration, Apnea	ORPHA:2131
Craniofrontonasal Syndrome	Congenital diaphragmatic hernia, Agenesis of corpus callosum, Hypoplasia of the corpus callosum	OMIM:304110
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Joint contracture of the 5th finger	OMIM:619562
Craniorachischisis	Congenital diaphragmatic hernia, Cervical spina bifida, Myelomeningocele, Anencephaly, Spinal dys...	ORPHA:63260
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Shwachman-Diamond Syndrome 1	Respiratory distress, Neonatal respiratory distress	OMIM:260400
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Absence Of The Pulmonary Artery	Cardiomegaly, Abnormal heart morphology, Abnormal cardiac septum morphology, Atrial septal defect...	ORPHA:980
Smith-Lemli-Opitz Syndrome	Death in infancy, Diffuse cerebral atrophy, Aganglionic megacolon, Microcephaly, Partial agenesis...	OMIM:270400
Congenital Myopathy 22B, Severe Fetal	Respiratory distress, Pleural effusion	OMIM:620369
1Q41Q42 Microdeletion Syndrome	Holoprosencephaly, Congenital diaphragmatic hernia	ORPHA:250999
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Truncus Arteriosus	Ventricular septal defect, Abnormal heart valve morphology, Cardiomegaly, Abnormal heart morpholo...	ORPHA:3384
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Respiratory distress, Death in infancy	OMIM:617156
Developmental And Epileptic Encephalopathy 95	Hepatomegaly, Cardiomegaly	OMIM:618143
Perlman Syndrome	Hypoplasia of the abdominal wall musculature, Agenesis of corpus callosum, Congenital diaphragmat...	OMIM:267000
Hemorrhagic Fever-Renal Syndrome	Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion	ORPHA:340
Colchicine Poisoning	Respiratory distress, Cardiorespiratory arrest	ORPHA:31824
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Congenital Alveolar Capillary Dysplasia	Respiratory distress, Pulmonary arterial hypertension	ORPHA:210122
Cooper-Jabs Syndrome	Camptodactyly of finger, Congenital diaphragmatic hernia	ORPHA:1488
Toxic Epidermal Necrolysis	Respiratory distress, Restrictive ventilatory defect, Cough	ORPHA:537
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Idiopathic Hypereosinophilic Syndrome	Respiratory distress, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion	ORPHA:3260
Meier-Gorlin Syndrome 1	Respiratory distress, Death in infancy, Emphysema	OMIM:224690
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Trisomy 18	Camptodactyly of finger, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Anencephaly...	ORPHA:3380
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress, Interstitial pneumonitis, Pneumonia	ORPHA:37042
Zttk Syndrome	Dysplastic corpus callosum, Flexion contracture, Optic atrophy, Abnormal cerebral white matter mo...	OMIM:617140
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Cardiomegaly, Right ventricular hypertrophy, Atrial septal dilatation, Right atrial...	ORPHA:1677
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Cerebral white matter hypoplasia, Colpocephaly, Lower limb hypertonia, Hypoplasia of the corpus c...	ORPHA:477993
Vici Syndrome	Abnormal posturing	OMIM:242840
Fetal Alcohol Syndrome	Congenital diaphragmatic hernia, Microcephaly	ORPHA:1915
Glycogen Storage Disease Ii	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:232300
Pagod Syndrome	Encephalocele, Death in infancy, Spina bifida, Microcephaly, Congenital diaphragmatic hernia, Men...	ORPHA:991
Congenital Tracheal Stenosis	Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction	ORPHA:141127
Fucosidosis	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:230000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Respiratory distress, Apnea	ORPHA:17
Wolf-Hirschhorn Syndrome	Tethered cord, Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Agenesis of corpus c...	ORPHA:280
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress, Pulmonary arterial hypertension, Pulmonary embolism	ORPHA:79282
Listeriosis	Respiratory distress, Respiratory failure, Miscarriage, Pneumonia	ORPHA:533
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Scimitar Syndrome	Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough	ORPHA:185
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Hypoplasia of the corpus callosum, Camptodactyly,...	ORPHA:1272
2Q37 Microdeletion Syndrome	Congenital diaphragmatic hernia, Microcephaly	ORPHA:1001
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Mitochondrial Dna-Associated Leigh Syndrome	Dyspnea, Episodic respiratory distress, Apnea, Hyperventilation	ORPHA:255210
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Simplified gyral pattern, Abnormal optic disc mor...	ORPHA:96121
Mucopolysaccharidosis Type 3	Hepatomegaly, Cardiomegaly, Splenomegaly, Abnormal aortic valve morphology, Abnormal mitral valve...	ORPHA:581
Pentalogy Of Cantrell	Encephalocele, Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	ORPHA:1335
6Q Terminal Deletion Syndrome	Abnormal cerebral white matter morphology, Colpocephaly, Hypoplasia of the corpus callosum, Abnor...	ORPHA:75857
Vacterl/Vater Association	Occipital encephalocele, Anencephaly, Congenital diaphragmatic hernia	ORPHA:887
Adnp Syndrome	Respiratory distress, Aspiration	ORPHA:404448
Ear-Patella-Short Stature Syndrome	Respiratory distress, Dyspnea, Respiratory failure	ORPHA:2554
Joubert Syndrome 5	Molar tooth sign on MRI, Occipital encephalocele, Thickened superior cerebellar peduncle	OMIM:610188
Coccidioidomycosis	Respiratory distress, Pneumonia, Pleural empyema, Cough, Exudative pleural effusion	ORPHA:228123
Kasabach-Merritt Syndrome	Respiratory distress, Hypopnea	ORPHA:2330
Campomelic Dysplasia	Respiratory distress, Neonatal respiratory distress, Apnea, Stridor, Tracheomalacia, Tracheobronc...	OMIM:114290
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Acrofacial Dysostosis 1, Nager Type	Aganglionic megacolon, Congenital diaphragmatic hernia, Microcephaly, Aqueductal stenosis, Hydroc...	OMIM:154400
Severe Generalized Junctional Epidermolysis Bullosa	Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure	ORPHA:79404
Mucolipidosis Ii Alpha/Beta	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Enlarged kidney	OMIM:252500
Congenital Total Pulmonary Venous Return Anomaly	Hepatomegaly, Atrial situs ambiguous, Ventricular septal defect, Dextrocardia, Mitral atresia, Ca...	ORPHA:99125
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Hepatosplenomegaly, Hepatomegaly, Ventricular hypertrophy, Cardiomegaly	OMIM:618278
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Anterior pituitary hypoplasia, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Lef...	ORPHA:466791
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
8P23.1 Microdeletion Syndrome	Congenital diaphragmatic hernia, Microcephaly	ORPHA:251071
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia	ORPHA:2063
Simpson-Golabi-Behmel Syndrome	Death in infancy, Camptodactyly of finger, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of...	ORPHA:373
Monosomy 9P	Agenesis of corpus callosum, Congenital diaphragmatic hernia, Microcephaly	ORPHA:261112
Limb Body Wall Complex	Encephalocele, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Myelomeningocele, ...	ORPHA:2369
Williams Syndrome	Death in early adulthood, Microcephaly, Atrophy/Degeneration involving the corticospinal tracts, ...	ORPHA:904
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion	ORPHA:69665
Arboleda-Tham Syndrome	Respiratory distress, Neonatal respiratory distress, Recurrent aspiration pneumonia	OMIM:616268
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress, Rhinitis	OMIM:305100
Ogden Syndrome	Bicuspid aortic valve, Left atrial enlargement, Ventricular septal defect, Cardiomegaly, Secundum...	OMIM:300855
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Smith-Lemli-Opitz Syndrome	Aganglionic megacolon, Congenital diaphragmatic hernia, Microcephaly, Optic atrophy, Aplasia/Hypo...	ORPHA:818
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Ataxia-Telangiectasia-Like Disorder 2	Joint contracture, Congenital diaphragmatic hernia, Microcephaly	OMIM:615919
Fragile X-Associated Tremor/Ataxia Syndrome	Cerebral cortical atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system physi...	ORPHA:93256
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Spondylodysplastic Ehlers-Danlos Syndrome	Agenesis of pineal gland, Multiple joint contractures, Optic nerve hypoplasia, Optic disc colobom...	ORPHA:536471
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Paternal Uniparental Disomy Of Chromosome 6	Hepatomegaly, Ventricular septal defect, Cardiomegaly	ORPHA:96191
Multiple Pterygium Syndrome, Escobar Variant	Multiple joint contractures, Congenital diaphragmatic hernia, Weakness of facial musculature, Fle...	OMIM:265000
Focal Dermal Hypoplasia	Camptodactyly of finger, Congenital diaphragmatic hernia, Diastasis recti, Spina bifida	ORPHA:2092
Aortic Arch Interruption	Respiratory distress, Tachypnea, Exertional dyspnea	ORPHA:2299
Cornelia De Lange Syndrome 1	Congenital diaphragmatic hernia, Microcephaly, Optic disc coloboma, Elbow flexion contracture, Op...	OMIM:122470
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Witteveen-Kolk Syndrome	Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Microceph...	OMIM:613406
Thoracoabdominal Syndrome	Hydrocephalus, Anencephaly, Congenital diaphragmatic hernia	OMIM:313850
Craniofacial Microsomia 1	Anophthalmia, Microphthalmia, Tetralogy of Fallot, Ventricular septal defect	OMIM:164210
Arterial Tortuosity Syndrome	Flexion contracture, Ischemic stroke, Congenital diaphragmatic hernia	OMIM:208050
Kabuki Syndrome	Congenital diaphragmatic hernia, Microcephaly, Hydrocephalus, Cerebral cortical atrophy, Ventricu...	ORPHA:2322
Cleidocranial Dysplasia 1	Respiratory distress, Neonatal respiratory distress	OMIM:119600
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Bohring-Opitz Syndrome	Abnormal cardiac septum morphology, Cardiomegaly	ORPHA:97297
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Congenital diaphragmatic hernia, Cerebral atrophy	OMIM:614080
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Pericardial And Diaphragmatic Defect	Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	ORPHA:2847
Abetalipoproteinemia	Hepatomegaly, Cardiomegaly	ORPHA:14
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Abnormal lateral ventricle morphology, Syringomyelia, Secondary microcephaly, Cervical cord compr...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Abnormal lateral ventricle morphology, Syringomyelia, Secondary microcephaly, Cervical cord compr...	ORPHA:353277
Yunis-Varon Syndrome	Ventricular septal defect, Cardiomegaly, Bilateral microphthalmos, Cardiomyopathy, Atrial septal ...	ORPHA:3472
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Pancreatic hyperplasia, Cardiomyopathy, Enlarged kidney	OMIM:130650
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Genitopatellar Syndrome	Hip contracture, Microcephaly, Knee flexion contracture, Colpocephaly, Pachygyria, Agenesis of co...	OMIM:606170
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Asthma, Nasal flaring	ORPHA:466943
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia	ORPHA:958
Chromosome 15Q25 Deletion Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum	OMIM:614294
Tropical Endomyocardial Fibrosis	Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cardiomegaly, Splenomega...	ORPHA:75565
Stüve-Wiedemann Syndrome	Respiratory distress, Asthma, Apnea	ORPHA:3206
Rabson-Mendenhall Syndrome	Macroglossia, Increased pineal volume	ORPHA:769
Norrie Disease	Abnormality of the diencephalon, Optic atrophy, Cerebral cortical atrophy, Microcephaly	ORPHA:649
Microphthalmia, Syndromic 1	Microphthalmia, Anophthalmia, Bicuspid aortic valve	OMIM:309800
Cutis Laxa, Autosomal Recessive, Type Ia	Congenital diaphragmatic hernia, Microcephaly	OMIM:219100
Denys-Drash Syndrome	Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia	OMIM:194080
Schinzel-Giedion Syndrome	Respiratory distress, Recurrent pneumonia	ORPHA:798
Eisenmenger Syndrome	Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art...	ORPHA:97214
Rubinstein-Taybi Syndrome 1	Respiratory distress	OMIM:180849
Oligomeganephronia	Optic disc coloboma, Congenital diaphragmatic hernia	ORPHA:2260
Tuberous Sclerosis Complex	Respiratory distress, Respiratory failure	ORPHA:805
Aicardi-Goutières Syndrome	Hepatosplenomegaly, Hypertrophic cardiomyopathy, Cardiomegaly	ORPHA:51
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co...	ORPHA:95455
Gitelman Syndrome	Respiratory distress	ORPHA:358
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Microcephaly, Partial agenesis of the corpus callosum, Hypoplasi...	OMIM:135900
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Microcephaly, Hypoplasia of the corpus callosum, Camptodactyly, ...	OMIM:301044
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress, Neonatal respiratory distress, Respiratory acidosis	OMIM:614748
Liver Disease, Severe Congenital	Hepatomegaly, Ventricular septal defect, Left atrial enlargement, Cardiomegaly, Splenomegaly, Dil...	OMIM:619991
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:618022
8Q24.3 Microdeletion Syndrome	Respiratory distress	ORPHA:508488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Beckwith-Wiedemann Syndrome	Hepatomegaly, Cardiomegaly, Splenomegaly, Hypertrophic cardiomyopathy, Visceromegaly, Enlarged ki...	ORPHA:116
Mullegama-Klein-Martinez Syndrome	Facial palsy, Congenital diaphragmatic hernia, Microcephaly	OMIM:301022
Doors Syndrome	Respiratory distress, Aspiration pneumonia	ORPHA:79500
Diaphragmatic Hernia 2	Agenesis of the diaphragm, Congenital diaphragmatic hernia	OMIM:222400
Leptospirosis	Respiratory distress, Pleural effusion, Cough	ORPHA:509
C Syndrome	Death in infancy, Congenital diaphragmatic hernia, Microcephaly, Aplasia/Hypoplasia of the abdomi...	ORPHA:1308
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Poland Syndrome	Encephalocele, Congenital diaphragmatic hernia, Microcephaly, Aplasia of the pectoralis major mus...	ORPHA:2911
Proteasome-Associated Autoinflammatory Syndrome 1	Splenomegaly, Hepatomegaly, Cardiomegaly	OMIM:256040
Simpson-Golabi-Behmel Syndrome, Type 1	Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Hydrocephalus, Macroglossia, ...	OMIM:312870
Diets-Jongmans Syndrome	Thick corpus callosum, Congenital diaphragmatic hernia	OMIM:618846
Ulbright-Hodes Syndrome	Respiratory distress, Respiratory failure, Pneumothorax	ORPHA:3404
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome	Respiratory distress	ORPHA:2255
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs	Congenital diaphragmatic hernia	OMIM:611812
Plague	Respiratory distress, Acute infectious pneumonia	ORPHA:707
Acrorenal-Mandibular Syndrome	Elbow flexion contracture, Congenital diaphragmatic hernia	OMIM:200980
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress	ORPHA:480880
Distal Deletion 15Q	Congenital diaphragmatic hernia, Microcephaly	ORPHA:1596
Cornelia De Lange Syndrome	Ventriculomegaly, Cerebral cortical atrophy, Congenital diaphragmatic hernia, Microcephaly	ORPHA:199
Singleton-Merten Syndrome 1	Mitral valve calcification, Cardiomegaly, Aortic valve calcification, Subvalvular aortic stenosis...	OMIM:182250
Tetraamelia Syndrome 1	Hydrocephalus, Congenital diaphragmatic hernia	OMIM:273395
Generalized Arterial Calcification Of Infancy	Pericardial effusion, Ventricular hypertrophy, Myocardial calcification, Cardiomegaly	ORPHA:51608
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Microcephaly	OMIM:614437
Heart Defects, Congenital, And Other Congenital Anomalies	Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia, Microcephaly	OMIM:600001
Meacham Syndrome	Congenital diaphragmatic hernia	ORPHA:3097
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia	OMIM:617641
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress, Recurrent pneumonia	ORPHA:99646
Pallister-Killian Syndrome	Tethered cord, Congenital diaphragmatic hernia, Flexion contracture, Macroglossia, Camptodactyly ...	OMIM:601803
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia	OMIM:157800
Alström Syndrome	Respiratory distress, Chronic pulmonary obstruction, Recurrent pneumonia, Restrictive ventilatory...	ORPHA:64
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia	OMIM:618280
Pmm2-Cdg	Respiratory distress, Aspiration pneumonia	ORPHA:79318

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Mycbp2

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

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 Mycbp2.

No publications found that use IMPC mice or data for Mycbp2.

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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
Mycbp2^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Mycbp2^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Mycbp2^em1(IMPC)Mbp	Exon Deletion	Mice, Tissue
Mycbp2^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, 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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Gene: Mycbp2 MGI:2179432

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

X-ray

Gross Morphology Embryo E14.5-E15.5

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Mycbp2 mutations

Histopathology

IMPC related publications

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Access Data Release 20.1 Data