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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
abnormal heart morphology	Mycbp2^em1(IMPC)Mbp	HET	Early adult
preweaning lethality, complete penetrance	Mycbp2^em1(IMPC)Mbp	HOM	Early adult
enlarged heart	Mycbp2^em1(IMPC)Mbp	HET	Early adult
abnormal eye morphology	Mycbp2^em1(IMPC)Mbp	HET	Early adult
anophthalmia	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.

Gross Morphology Embryo E14.5-E15.5

Images

11 Images

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X-ray

XRay Images Whole Body Dorso Ventral

48 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 (925 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	Midline brainstem cleft, Hydrocephalus, Fusion of the left and right thalami, Hypoplasia of the p...	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	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Abnormal brainstem morphology, Polymi...	ORPHA:300573
Tubulinopathy-Associated Dysgyria	Dysgyria, Abnormal brainstem morphology, Abnormality of the internal capsule, Abnormal thalamus m...	ORPHA:467166
Pontocerebellar Hypoplasia, Type 1A	Neuronal loss in basal ganglia, Distal amyotrophy, Spinal muscular atrophy, Congenital contractur...	OMIM:607596
Congenital Muscular Dystrophy With Cerebellar Involvement	Occipital encephalocele, Optic nerve hypoplasia, Type II lissencephaly, Microcephaly, Olivopontoc...	ORPHA:370959
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Hypoplasia of the corpus callosum, Decreased thalamic volume, Microcephaly, Cerebral cortical atr...	OMIM:619072
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology, Abnormal caudate nucleus morphology, Abnormal globus pallidus morph...	ORPHA:397725
Pontocerebellar Hypoplasia, Type 12	Cerebral atrophy, Hypoplasia of the brainstem, Cerebral hypoplasia, Death in infancy, Joint contr...	OMIM:618266
Microphthalmia/Coloboma 10	Microphthalmia, Anophthalmia	OMIM:616428
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Hypoplasia of the corpus callosum, Superior rectus atrophy, Facial palsy, Hypoplastic anterior co...	OMIM:600638
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormal basal ganglia morphology, Decreased thalamic volume	OMIM:618646
Emphysema, Congenital Lobar	Respiratory distress	OMIM:130710
Microphthalmia/Coloboma 5	Bilateral microphthalmos, Microphthalmia, Anophthalmia	OMIM:611638
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Secondary microcephaly, Diffuse cerebral atrophy, Hypoplasia of the brainstem, Decreased thalamic...	OMIM:613668
Leukoencephalopathy With Vanishing White Matter 5	Megalencephaly, Dilated third ventricle, Abnormal cerebral white matter morphology, Lateral ventr...	OMIM:620315
Hypomyelination Neuropathy-Arthrogryposis Syndrome	Respiratory distress	ORPHA:2680
Band Heterotopia	Hydrocephalus, Polymicrogyria, Agenesis of corpus callosum, Lateral ventricle dilatation, Subcort...	OMIM:600348
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Distal amyotrophy, Hand muscle weakness, Hand muscle atrophy, Weakness of facial musculature, Abn...	OMIM:607641
Microphthalmia, Syndromic 12	Hypoplastic left atrium, Microphthalmia, Ventricular septal defect, Anophthalmia	OMIM:615524
Cach Syndrome	Optic atrophy, T2 hypointense thalamus, Globus pallidus hypointensity on susceptibility-weighted ...	ORPHA:135
Granulomas, Congenital Cerebral	Neonatal death	OMIM:306300
Genitourinary Tract Anomalies	Neonatal death	OMIM:305690
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Hypoplasia of the corpus callosum, Normal pressure hydrocephalus, Congenital fibrosis of extraocu...	ORPHA:300570
Alexander Disease Type I	Abnormal thalamic MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hydrocephalus...	ORPHA:363717
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Hypoplasia of the corpus callosum, T2 hypointense thalamus, Cerebral cortical atrophy, Basal gang...	OMIM:618193
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Spina bifida occulta, Optic nerve hypoplasia, Dandy-Walker malformation, Hypoplasia of the pons, ...	OMIM:618736
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Ven...	OMIM:604213
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Hypomimic face, Thalamic calcification, Basal ganglia calcification	OMIM:618824
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal upper motor neuron morphology, Basa...	OMIM:221770
Leukoencephalopathy With Dystonia And Motor Neuropathy	Decreased motor nerve conduction velocity, Leukoencephalopathy, Torticollis, Focal T2 hyperintens...	OMIM:613724
Combined Oxidative Phosphorylation Deficiency 51	Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral atrophy	OMIM:619057
Spastic Paraplegia 45, Autosomal Recessive	Optic atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Skeletal muscle atr...	OMIM:613162
Encephalopathy, Neonatal Severe, With Lactic Acidosis And Brain Abnormalities	Death in infancy, Microcephaly, Cerebral cortical atrophy, Simplified gyral pattern, Abnormal cer...	OMIM:617668
Muscular Hypertonia, Lethal	Death in infancy, Respiratory distress	OMIM:254120
Microphthalmia-Brain Atrophy Syndrome	Atrophy/Degeneration affecting the brainstem, Corpus callosum atrophy, Microcephaly, Diffuse cere...	ORPHA:77299
Hypotonia, Infantile, With Psychomotor Retardation	Hypoplasia of the corpus callosum, Increased variability in muscle fiber diameter, Myopathy, Late...	OMIM:616816
Spinal Muscular Atrophy, Segmental	Segmental spinal muscular atrophy, Hand muscle atrophy, Abnormal anterior horn cell morphology	OMIM:183020
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia	OMIM:611038
Unilateral Hemispheric Polymicrogyria	Cortical dysplasia, Thick cerebral cortex, Lateral ventricle dilatation, Cerebral hypoplasia	ORPHA:101071
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Cerebral atrophy, Molar tooth sign on MRI, Agenesis of corpus callosum, Hypoplasia of the corpus ...	ORPHA:166024
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Optic atrophy, Muscular dystrophy, Hydrocephalus, Dandy-Walker malformation, Type II lissencephal...	OMIM:613154
Basal Ganglia Calcification, Idiopathic, 5	Cerebral calcification, Thalamic calcification, Basal ganglia calcification	OMIM:615483
Congenital Arthrogryposis With Anterior Horn Cell Disease	Cerebral atrophy, Abnormal anterior horn cell morphology, Facial diplegia, Microcephaly, Neonatal...	OMIM:611890
Cardiomyopathy, Dilated, 1I	Cardiomegaly, Dilated cardiomyopathy	OMIM:604765
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Septopreoptic Holoprosencephaly	Megalencephaly, Anterior hypopituitarism, Abnormal septum pellucidum morphology, Ethmoidal enceph...	ORPHA:280195
Pyruvate Dehydrogenase E1-Alpha Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Periventricular leukomalacia, Basal ganglia ...	ORPHA:79243
Combined Oxidative Phosphorylation Defect Type 7	Optic atrophy, Abnormal thalamic MRI signal intensity, Hypoplasia of the corpus callosum, Abnorma...	ORPHA:254930
Lissencephaly 4	Colpocephaly, Simplified gyral pattern, Agenesis of corpus callosum, Lissencephaly, Primary micro...	OMIM:614019
Autosomal Recessive Spastic Paraplegia Type 11	Hypoplasia of the corpus callosum, Generalized limb muscle atrophy, Orthostatic hypotension, Foca...	ORPHA:2822
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Ventriculomegaly, Mild malformation of cortical development, Abnormal...	ORPHA:500166
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology, Decreased motor nerve conduction velocity	DECIPHER:29
Martsolf Syndrome 2	Hypoplasia of the corpus callosum, Camptodactyly, Microcephaly, Camptodactyly of finger, Lateral ...	OMIM:619420
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Focal T2 hyperintense thalamic lesion, Cerebral infarct, Myopathy	ORPHA:254881
Developmental And Epileptic Encephalopathy 30	Death in infancy, Respiratory distress	OMIM:616341
Neurodevelopmental Disorder With Seizures And Brain Abnormalities	Thin corpus callosum, Death in childhood, Microcephaly, Lateral ventricle dilatation, Partial age...	OMIM:619517
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor...	ORPHA:250972
Leukoencephalopathy, Progressive, With Ovarian Failure	Periventricular leukomalacia, Leukoencephalopathy, Progressive leukoencephalopathy, Lateral ventr...	OMIM:615889
Familial Acute Necrotizing Encephalopathy	Abnormal putamen morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem morpholo...	ORPHA:88619
Japanese Encephalitis	Focal T2 hyperintense thalamic lesion, Distal lower limb muscle weakness, Hyperintensity of MRI T...	ORPHA:79139
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Dysplastic corpus callosum, Hypoplasia of the pons, Microcephaly, Skeletal muscle atrophy, Type 1...	OMIM:618276
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Thalamic calcification, Basal ganglia calcification	OMIM:618317
Alg2-Cdg	Hypoplasia of the corpus callosum, Abnormal basal ganglia MRI signal intensity, Microcephaly, Lat...	ORPHA:79326
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Syntelencephaly, Microcepha...	OMIM:609637
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome	Thin corpus callosum, Optic nerve hypoplasia, Neurogenic bladder, Pachygyria, Abnormality of the ...	ORPHA:572013
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Microcephaly, Lateral ventricle dilata...	OMIM:618890
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebral atrophy, T2 hypointense thalamus, Miscarriage, Hyperintensity of cerebral white matter o...	ORPHA:1947
Combined Oxidative Phosphorylation Defect Type 39	Cerebral atrophy, Hypoplasia of the corpus callosum, Decreased nerve conduction velocity, Deep wh...	ORPHA:565624
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology, Motor conduction block	DECIPHER:31
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Optic nerve dysplasia, Cerebral atrophy, Limb hypertonia, Dilated third ventricle, Lower limb hyp...	OMIM:617296
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Abnormal periventricular white matter morphology, Dilated fourth ventricle, Abnormal cerebral whi...	OMIM:613443
X-Linked Parkinsonism-Spasticity Syndrome	Diffuse cerebral atrophy, Dilated third ventricle, Lateral ventricle dilatation	ORPHA:363654
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form	Hypoplasia of the corpus callosum, Ankle flexion contracture, Cerebral white matter hypoplasia, L...	ORPHA:284417
Lissencephaly 9 With Complex Brainstem Malformation	Hypoplasia of the corpus callosum, Enlarged tectum, Hypoplastic anterior commissure, Hypoplasia o...	OMIM:618325
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Cerebral atrophy, Dilated third ventricle, Corpus callosum atrophy, Microcephaly, Simplified gyra...	OMIM:619244
Intellectual Developmental Disorder, X-Linked 103	Polymicrogyria, Lateral ventricle dilatation	OMIM:300982
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Skeletal muscle atrophy	ORPHA:247604
Succinic Acidemia	Respiratory distress	OMIM:600335
Joubert Syndrome 3	Molar tooth sign on MRI, Thin corpus callosum, Elongated superior cerebellar peduncle, Frontal po...	OMIM:608629
Isolated Congenital Hypoglossia/Aglossia	Dyspnea, Respiratory distress	ORPHA:141152
Polyrrhinia	Abnormal third ventricle morphology, Lateral ventricle dilatation	ORPHA:141091
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome	Respiratory distress	ORPHA:171703
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant	Hypoplasia of the corpus callosum, Spina bifida occulta, Arthrogryposis multiplex congenita, Cere...	OMIM:618291
Stuve-Wiedemann Syndrome 2	Stillbirth, Neonatal death, Death in adolescence, Respiratory distress	OMIM:619751
Pyruvate Dehydrogenase E3-Binding Protein Deficiency	Cerebral atrophy, Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Abnormal basa...	ORPHA:255182
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Distal amyotrophy, Spinal muscular atrophy, Scapuloperoneal amyotrophy, Abnormal lower motor neur...	OMIM:611067
Microphthalmia, Isolated 8	Optic nerve hypoplasia, Microphthalmia, True anophthalmia, Anophthalmia	OMIM:615113
Lissencephaly Due To Tuba1A Mutation	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Aganglionic megacolon, Optic nerve...	ORPHA:171680
Neuroferritinopathy	Hypomimic face, Abnormal thalamic MRI signal intensity, T2 hypointense thalamus, Abnormal putamen...	ORPHA:157846
Meckel Syndrome, Type 8	Pericardial effusion, Enlarged kidney, Microphthalmia, Anophthalmia	OMIM:613885
Craniosynostosis 6	Spina bifida occulta, Dandy-Walker malformation, Microcephaly, Agenesis of corpus callosum, Later...	OMIM:616602
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Lateral ventricle dilatation, Short corpus callosum	OMIM:619972
Amyotrophic Lateral Sclerosis 5, Juvenile	Thin corpus callosum, Distal amyotrophy, Abnormal cerebral white matter morphology, Abnormal lowe...	OMIM:602099
Glutamine Deficiency, Congenital	Hypoplasia of the corpus callosum, Subependymal cysts, Camptodactyly, Neonatal death, Flexion con...	OMIM:610015
Fryns Microphthalmia Syndrome	Microphthalmia, Anophthalmia	OMIM:600776
Orofaciodigital Syndrome Xv	Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:617127
Adams-Oliver Syndrome 2	Optic atrophy, Cerebral atrophy, Limb hypertonia, Hydrocephalus, Polymicrogyria, Microcephaly, La...	OMIM:614219
Hemiparkinsonism-Hemiatrophy Syndrome	Cerebral cortical hemiatrophy, Lateral ventricle dilatation	ORPHA:306669
Slc35A2-Cdg	Cerebral atrophy, Hypoplasia of the corpus callosum, Atrophy/Degeneration affecting the brainstem...	ORPHA:356961
Joubert Syndrome 13	Molar tooth sign on MRI, Pachygyria	OMIM:614173
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Abnormal motor neuron morphology, Ubiquitin-positive cerebral inclusion bodies, Rimmed vacuoles, ...	ORPHA:52430
Combined Oxidative Phosphorylation Defect Type 23	Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Abnormal basal g...	ORPHA:444013
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Secondary microcephaly, Dysplastic corpus callosum, Reduced cerebral white matter volume, Hyperin...	OMIM:620317
Malan Overgrowth Syndrome	Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Ventriculomegaly, Hypoplasia of ...	ORPHA:420179
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Decreased compound muscle acti...	OMIM:606353
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Ventriculomegaly	OMIM:614120
Weiss-Kruszka Syndrome	Dysplastic corpus callosum, Decreased response to growth hormone stimulation test	ORPHA:502430
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintense basal ganglia lesi...	ORPHA:79264
Intellectual Developmental Disorder, Autosomal Dominant 48	Hypoplasia of the corpus callosum, Polymicrogyria, Microcephaly, Dilated fourth ventricle, Latera...	OMIM:617751
Infantile-Onset X-Linked Spinal Muscular Atrophy	Ankle flexion contracture, Abnormal anterior horn cell morphology, Inflammatory myopathy, Weaknes...	ORPHA:1145
Intellectual Developmental Disorder, Autosomal Dominant 56	Secondary microcephaly, Hypomimic face, Pontocerebellar atrophy, Thin corpus callosum, Lateral ve...	OMIM:617854
Pontocerebellar Hypoplasia, Type 13	Hypoplasia of the corpus callosum, Dandy-Walker malformation, Hypoplasia of the pons, Microcephal...	OMIM:618606
Acute Disseminated Encephalomyelitis	Abnormal thalamic MRI signal intensity, Abnormal brainstem MRI signal intensity, Myelitis, Abnorm...	ORPHA:83597
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology, Neurogenic bladder, Abnormal cerebral white matter morpho...	OMIM:263570
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Meningo...	ORPHA:397715
Anencephaly 2	Anophthalmia	OMIM:619452
Congenital Hydrocephalus	Optic atrophy, Abnormal cortical gyration, Hydrocephalus, Small cerebral cortex, Colpocephaly, Li...	ORPHA:2185
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Hypoplasia of the corpus callosum, Secondary microcephaly, Molar tooth sign on MRI, Fusion of the...	OMIM:619306
Bilateral Generalized Polymicrogyria	Microcephaly, Diffuse white matter abnormalities, Lateral ventricle dilatation, Hypoplasia of the...	ORPHA:208447
Joubert Syndrome 30	Molar tooth sign on MRI, Polymicrogyria, Dandy-Walker malformation, Agenesis of corpus callosum, ...	OMIM:617622
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Optic atrophy, Abnormal thalamic MRI signal intensity, Secondary microcephaly, Decreased nerve co...	ORPHA:485421
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Microcephaly, Thin corpus callosum, Lateral ventricle dilatation	OMIM:615716
3P25.3 Microdeletion Syndrome	Cerebral white matter atrophy, Abnormal thalamus morphology, Skeletal muscle atrophy, Knee flexio...	ORPHA:435638
Leigh Syndrome	Optic atrophy, Abnormal thalamic MRI signal intensity, Hypoplasia of the corpus callosum, Abnorma...	ORPHA:506
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,...	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Cerebral cortical atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis,...	OMIM:616437
Myasthenic Syndrome, Congenital, 6, Presynaptic	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:254210
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy	Respiratory distress	OMIM:619099
Duplication Of The Pituitary Gland	Abnormality of masseter muscle, Encephalocele, Abnormal pituitary gland morphology, Abnormal midb...	ORPHA:314621
Rhombencephalosynapsis	Aganglionic megacolon, Hydrocephalus, Fusion of the left and right thalami, Septo-optic dysplasia...	ORPHA:59315
Severe X-Linked Intellectual Disability, Gustavson Type	Optic atrophy, Dandy-Walker malformation, Microcephaly, Dilated fourth ventricle, Lateral ventric...	ORPHA:3078
New-Onset Refractory Status Epilepticus	Abnormal thalamic MRI signal intensity, Abnormal basal ganglia MRI signal intensity, Focal T2 hyp...	ORPHA:363558
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Proximal muscle weakness in upper limbs, Type 1 muscle fiber predominance, Limb muscle weakness, ...	OMIM:613954
Dystonia 31	Abnormal posturing	OMIM:619565
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Progressive microcephaly, Multifoc...	ORPHA:488627
Giant Axonal Neuropathy 1, Autosomal Recessive	Distal amyotrophy, Facial palsy, Abnormal pyramidal tract morphology, Lateral ventricle dilatation	OMIM:256850
Global Developmental Delay With Or Without Impaired Intellectual Development	Lateral ventricle dilatation	OMIM:618330
Oculocerebrocutaneous Syndrome	Microphthalmia, Anophthalmia	OMIM:164180
Cardiomyopathy, Dilated, 1Gg	Respiratory distress	OMIM:613642
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy	ORPHA:599373
Respiratory Distress Syndrome In Premature Infants	Tachypnea, Dyspnea, Respiratory distress	OMIM:267450
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist...	OMIM:605809
Peroxisome Biogenesis Disorder 6A (Zellweger)	Neonatal death, Colpocephaly, Pachygyria	OMIM:614870
Coach Syndrome 2	Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:619111
Frontotemporal Dementia With Motor Neuron Disease	Abnormal upper motor neuron morphology, Generalized amyotrophy, Abnormal lower motor neuron morph...	ORPHA:275872
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dilatation, Hyperintensity...	ORPHA:544488
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Perching Syndrome	Respiratory distress	OMIM:617055
Cog5-Cdg	Atrophy/Degeneration affecting the brainstem, Neurogenic bladder, Cerebral white matter atrophy, ...	ORPHA:263487
Congenital Lobar Emphysema	Respiratory distress	ORPHA:1928
D-2-Hydroxyglutaric Aciduria 1	Subependymal cysts, Multifocal cerebral white matter abnormalities, Lateral ventricle dilatation	OMIM:600721
Amyotrophic Lateral Sclerosis 21	Distal lower limb muscle weakness, Decreased nerve conduction velocity, Abnormal upper motor neur...	OMIM:606070
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Microcephaly, Thin corpus callosum, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:614105
Immunodeficiency 95	Respiratory distress	OMIM:619773
Wars2-Related Combined Oxidative Phosphorylation Defect	Cerebral atrophy, Limb hypertonia, Cerebral white matter hypoplasia, Abnormal periventricular whi...	ORPHA:572798
Joubert Syndrome 18	Occipital encephalocele, Molar tooth sign on MRI, Camptodactyly, Agenesis of corpus callosum	OMIM:614815
Progressive Non-Fluent Aphasia	Frontotemporal cerebral atrophy, Abnormal lower motor neuron morphology, Abnormal cerebral white ...	ORPHA:100070
Adult Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Abnormal corpus callosum morphology, ...	ORPHA:206448
Panhypophysitis	Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95513
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome	Cardiomegaly	ORPHA:88643
Lissencephaly Type 1 Due To Doublecortin Gene Mutation	Hypoplasia of the corpus callosum, Secondary microcephaly, Cerebral white matter atrophy, Agyria,...	ORPHA:2148
Hydranencephaly	Optic nerve hypoplasia, Cerebral cortical atrophy, Dysgenesis of the thalamus, Abnormal corpus st...	ORPHA:2177
Adenohypophysitis	Abnormal thalamic MRI signal intensity, Orthostatic hypotension, Reduced circulating prolactin co...	ORPHA:95512
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal...	OMIM:105550
Lethal Osteosclerotic Bone Dysplasia	Dyspnea, Respiratory distress	ORPHA:1832
Tay-Sachs Disease	Optic atrophy, Abnormal thalamic MRI signal intensity, Hip flexor weakness, Hypointensity of cere...	ORPHA:845
Joubert Syndrome 31	Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI	OMIM:617761
Machado-Joseph Disease Type 3	Degeneration of the striatum, Neurogenic bladder, Dilated fourth ventricle, Skeletal muscle atrop...	ORPHA:276244
Laryngomalacia	Respiratory distress	OMIM:150280
Severe X-Linked Mitochondrial Encephalomyopathy	Respiratory distress	ORPHA:238329
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly	Parietal cortical atrophy, Thin corpus callosum, Reduced cerebral white matter volume, Lateral ve...	OMIM:620075
Lethal Congenital Contracture Syndrome 1	Hypoplasia of the musculature, Neonatal death, Skeletal muscle atrophy, Paucity of anterior horn ...	OMIM:253310
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Abnormal thalamus morphology	ORPHA:404440
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ragged-red muscle fibers, Abnormal thalamic MRI signal intensity, Increased variability in muscle...	ORPHA:70595
Laryngotracheal Angioma	Apnea, Intercostal retractions, Respiratory distress	ORPHA:137935
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Death in infancy	OMIM:619046
Neurodevelopmental Disorder With Intracranial Hemorrhage, Seizures, And Spasticity	Periventricular leukomalacia, Thin corpus callosum, Limb hypertonia, Hydranencephaly, Hydrocephal...	OMIM:620371
2,4-Dienoyl-Coa Reductase Deficiency	Optic atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Death in childhood, Hydroceph...	OMIM:616034
Alg13-Cdg	Abnormal lateral ventricle morphology	ORPHA:324422
Pontocerebellar Hypoplasia Type 2	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Abnormal cortical gyration, Progre...	ORPHA:2524
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Small pituitary gland, Flexion contra...	OMIM:619479
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Hypoplasia of the corpus callosum, Joint contracture of the 5th finger, Joint contracture of the ...	OMIM:618914
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology, Abnormal corticospinal tract morphology, Achilles tendon ...	OMIM:607225
Aicardi Syndrome	Optic atrophy, Cavum septum pellucidum, Polymicrogyria, Dandy-Walker malformation, Choroid plexus...	OMIM:304050
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Trisomy 13	Atrial septal defect, Microphthalmia, Anophthalmia, Aplasia/Hypoplasia of the iris, Ventricular s...	ORPHA:3378
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Autosomal Recessive Spastic Paraplegia Type 66	Hypoplasia of the corpus callosum, Colpocephaly, Lower limb amyotrophy, Limb hypertonia	ORPHA:401815
Holoprosencephaly 7	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Panhypopituitarism, Fusion ...	OMIM:610828
Cardiomyopathy, Familial Hypertrophic, 27	Ventricular septal hypertrophy, Concentric hypertrophic cardiomyopathy, Hypertrophic cardiomyopat...	OMIM:618052
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Microcephaly, Cerebral cortical atrophy, Camptodactyly of finger, Holoprosenceph...	ORPHA:2570
Mitochondrial Complex I Deficiency, Nuclear Type 39	Cardiomegaly, Atrial septal defect, Perimembranous ventricular septal defect, Hypertrophic cardio...	OMIM:620135
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity	ORPHA:309155
Gaucher Disease Type 2	Abnormal pattern of respiration, Respiratory distress	ORPHA:77260
Basel-Vanagaite-Smirin-Yosef Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Cavum septum pellucidum, Dilated third ventr...	ORPHA:464738
Progeria-Short Stature-Pigmented Nevi Syndrome	Microcephaly, Abnormal thalamus morphology, Multiple joint contractures	ORPHA:2959
Amyotrophic Lateral Sclerosis 2, Juvenile	Retrocollis, Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity of facial musc...	OMIM:205100
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome	Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology	ORPHA:488635
Al-Gazali-Bakalinova Syndrome	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Paganini-Miozzo Syndrome	Lateral ventricle dilatation	OMIM:301025
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly	Cerebral atrophy, Death in childhood, Microcephaly, Lateral ventricle dilatation, Primary microce...	OMIM:619847
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology, Lower limb muscle weakness	ORPHA:2590
Chromosome 6Q24-Q25 Deletion Syndrome	Hydrocephalus, Probst bundles, Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:612863
Amoebiasis Due To Free-Living Amoebae	Abnormal brainstem MRI signal intensity, Abnormal basal ganglia morphology, Facial palsy, Myocard...	ORPHA:68
Combined Oxidative Phosphorylation Deficiency 30	Death in infancy, Respiratory distress	OMIM:616974
Pseudo-Torch Syndrome 2	Cerebral calcification, Polymicrogyria, Microcephaly, Lateral ventricle dilatation, Ventriculomegaly	OMIM:617397
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:77298
Bardet-Biedl Syndrome 16	Respiratory distress	OMIM:615993
Mucolipidosis Iv	Optic atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum	OMIM:252650
Amyotrophic Lateral Sclerosis 4, Juvenile	Decreased compound muscle action potential amplitude, Pallor of dorsal columns of the spinal cord...	OMIM:602433
Linear Skin Defects With Multiple Congenital Anomalies 2	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Microcephaly, Agenesis of cor...	OMIM:300887
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Lateral ventricle dilatation	ORPHA:85290
Amyotrophic Lateral Sclerosis, Susceptibility To, 24	Hippocampal atrophy, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Caudate atrophy	OMIM:617892
Ventriculomegaly With Defects Of The Radius And Kidney	Hydrocephalus, Ventriculomegaly, Lateral ventricle dilatation	OMIM:602200
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Patent foramen ovale, Cardiomegaly, Atrial septal defect, Ventricular septal defect	OMIM:618652
Pontocerebellar Hypoplasia Type 10	Optic atrophy, Abnormal cerebral cortex morphology, Simplified gyral pattern, Abnormal brainstem ...	ORPHA:411493
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Respiratory distress	OMIM:300580
Congenital Toxoplasmosis	Cardiomegaly, Microphthalmia, Hepatomegaly	ORPHA:858
Cortical Dysplasia, Complex, With Other Brain Malformations 11	Cerebral atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Reduced cereb...	OMIM:620156
Ravine Syndrome	Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev...	ORPHA:99852
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures	Respiratory distress	OMIM:617977
Greig Cephalopolysyndactyly Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Agenesis of corpus callosum	ORPHA:380
Malaria	Respiratory distress	ORPHA:673
Chronic Pneumonitis Of Infancy	Hyperventilation, Tachypnea, Intercostal retractions, Respiratory distress	ORPHA:91359
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Cavum septum pellucidum, Congenital muscular torticollis, Abnormal corpus callosum morphology, Co...	ORPHA:457279
Microphthalmia, Syndromic 11	Agenesis of pineal gland, Agenesis of corpus callosum	OMIM:614402
Aicardi-Goutieres Syndrome 9	Optic atrophy, Cerebral atrophy, Cerebral calcification, Diffuse leukoencephalopathy, Microcephal...	OMIM:619487
Distal Deletion 10Q	Spina bifida occulta, Cavum septum pellucidum, Facial diplegia, Scapular winging, Microcephaly, L...	ORPHA:96148
Joubert Syndrome 7	Molar tooth sign on MRI, Encephalocele, Brainstem dysplasia, Abnormal corpus callosum morphology,...	OMIM:611560
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome	Respiratory distress	ORPHA:91130
Amyotrophic Lateral Sclerosis 1	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c...	OMIM:105400
Mosaic Trisomy 1	Congenital diaphragmatic hernia, Polymicrogyria, Elbow flexion contracture, Camptodactyly of fing...	ORPHA:1692
Ciliary Dyskinesia, Primary, 47, And Lissencephaly	Respiratory distress	OMIM:619466
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Muscle hemorrhage, Cerebral calcification, Abnormal basal ganglia morphology, Thalamic hemorrhage...	ORPHA:464321
Congenital Disorder Of Glycosylation, Type Iy	Respiratory distress	OMIM:300934
Combined Oxidative Phosphorylation Deficiency 8	Cardiomegaly, Hypertrophic cardiomyopathy	OMIM:614096
Pleural Mesothelioma	Dyspnea, Respiratory distress	ORPHA:50251
Congenital Disorder Of Glycosylation, Type Iig	Cerebral atrophy, Progressive microcephaly, Camptodactyly, Microcephaly, Lateral ventricle dilata...	OMIM:611209
Joubert Syndrome With Renal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Polymicrogyria, Age...	ORPHA:220497
Amyotrophic Lateral Sclerosis 11	Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612577
Short Chain Acyl-Coa Dehydrogenase Deficiency	Respiratory distress	ORPHA:26792
Congenital Myopathy 10A, Severe Variant	Respiratory distress	OMIM:614399
Aceruloplasminemia	Abnormal thalamic MRI signal intensity, Torticollis, Abnormal corpus striatum morphology	ORPHA:48818
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology, Distal amyotrophy	OMIM:215470
Intellectual Developmental Disorder, X-Linked, Syndromic 32	Cardiomegaly	OMIM:300886
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebral atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Dysplastic cor...	OMIM:616900
Meningioma	Enlarged pituitary gland, Reduced circulating prolactin concentration, Increased circulating prol...	ORPHA:2495
Microcephaly, Epilepsy, And Diabetes Syndrome 2	Microcephaly, Lateral ventricle dilatation	OMIM:619278
Attrv30M Amyloidosis	Cardiomegaly, Cardiomyopathy	ORPHA:85447
Microphthalmia, Syndromic 9	Bilateral microphthalmos, Anophthalmia, Hypoplastic left atrium, Truncus arteriosus, Pulmonic ste...	OMIM:601186
Central Neurocytoma	Hydrocephalus, Cerebral calcification, Abnormal lateral ventricle morphology	ORPHA:73256
Anophthalmia Plus Syndrome	Anophthalmia	ORPHA:1104
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
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Lower limb hypertonia, Lateral ventricle dilatation	OMIM:619995
Ectodermal Dysplasia-Syndactyly Syndrome 2	Cardiomegaly	OMIM:613576
Congenital Myopathy 8	Cardiomegaly	OMIM:618654
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Microcephaly, Flexion contrac...	OMIM:614833
Combined Oxidative Phosphorylation Deficiency 54	Secondary microcephaly, Periventricular white matter hyperintensities, Dysplastic corpus callosum...	OMIM:619737
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive	Respiratory distress	OMIM:245590
Congenital Laryngeal Web	Respiratory distress	ORPHA:2374
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Respiratory distress	OMIM:615042
Cardiomyopathy, Dilated, 2H	Tachypnea, Neonatal death	OMIM:620203
Familial Nasal Acilia	Dyspnea, Respiratory distress	ORPHA:922
Bronchopulmonary Dysplasia	Dyspnea, Central apnea, Respiratory distress	ORPHA:70589
Hereditary Cryohydrocytosis With Reduced Stomatin	Intracerebral periventricular calcifications, Decreased thalamic volume, Cerebral white matter hy...	ORPHA:168577
Mitochondrial Complex I Deficiency, Nuclear Type 36	Cardiomegaly, Perimembranous ventricular septal defect	OMIM:619170
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type	Periventricular leukomalacia, Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral v...	ORPHA:293725
Interstitial Pneumonitis, Desquamative, Familial	Tachypnea, Respiratory distress	OMIM:263000
Mitochondrial Pyruvate Carrier Deficiency	Respiratory distress	OMIM:614741
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic lateral sclerosis, Weakness of the intrinsic hand muscles, Lower limb muscle weakness	OMIM:614373
Joubert Syndrome With Ocular Defect	Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Polymicrogyria, Age...	ORPHA:220493
Familial Atrial Myxoma	Cardiomegaly, Bacterial endocarditis, Pulmonic valve myxoma, Cardiac myxoma	ORPHA:615
Leptin Receptor Deficiency	Abnormal hypothalamus morphology, Decreased response to growth hormone stimulation test, Pituitar...	OMIM:614963
Epidermolysis Bullosa With Diaphragmatic Hernia	Congenital diaphragmatic hernia, Neonatal death	OMIM:226735
Dworschak-Punetha Neurodevelopmental Syndrome	Microcephaly, Colpocephaly, Agenesis of corpus callosum, Dysplastic corpus callosum	OMIM:619955
Mohr-Tranebjaerg Syndrome	Abnormal posturing	OMIM:304700
Halperin-Birk Syndrome	Optic atrophy, Semilobar holoprosencephaly, Congenital diaphragmatic hernia, Death in childhood, ...	OMIM:618651
Joubert Syndrome 2	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Encephalocele, Hydrocephalus, Br...	OMIM:608091
Joubert Syndrome 22	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy	OMIM:615665
Auriculocondylar Syndrome 2A	Apnea, Respiratory distress	OMIM:614669
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Joubert Syndrome 14	Optic atrophy, Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Encephalocele, Meningo...	OMIM:614424
Glutaric Acidemia I	Hydrocephalus, Lateral ventricle dilatation	OMIM:231670
Congenitally Uncorrected Transposition Of The Great Arteries	Abnormal ventriculoarterial connection, Hepatomegaly, Ventricular septal defect, Anomalous pulmon...	ORPHA:860
Osteopetrosis, Autosomal Recessive 7	Optic atrophy, Death in childhood, Optic nerve compression, Hydrocephalus, Death in infancy, Late...	OMIM:612301
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Optic atrophy, Hypoplasia of the corpus callosum, Hypoplastic anterior commissure, Microcephaly, ...	OMIM:616975
Hydrolethalus	Microphthalmia, Anophthalmia	ORPHA:2189
Bainbridge-Ropers Syndrome	Hypoplasia of the corpus callosum, Contracture of the proximal interphalangeal joint of the 4th f...	OMIM:615485
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related	Cerebral cortical atrophy, Neurofibrillary tangles, Lateral ventricle dilatation, Lewy bodies	OMIM:607485
Gómez-López-Hernández Syndrome	Abnormal brainstem morphology, Hydrocephalus	ORPHA:1532
Congenital Disorder Of Glycosylation, Type Ix	Death in childhood, Respiratory distress	OMIM:615597
Severe Acute Respiratory Syndrome	Dyspnea, Respiratory distress	ORPHA:140896
Progressive Supranuclear Palsy-Parkinsonism Syndrome	Respiratory distress	ORPHA:240085
Den Hoed-De Boer-Voisin Syndrome	Secondary microcephaly, Death in adolescence, Microcephaly, Lateral ventricle dilatation, Ventric...	OMIM:619229
Trisomy 1Q	Ventricular septal defect, Anophthalmia	ORPHA:261344
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Dysplastic corpus callosum, Microcephaly, Flexion contracture, Simplified gyral pattern, Hypoplas...	OMIM:620001
Cerebrooculonasal Syndrome	Anophthalmia	ORPHA:66625
Meckel Syndrome, Type 10	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Dandy-Walker malformation, Camptod...	OMIM:614175
Meckel Syndrome 13	Occipital encephalocele, Molar tooth sign on MRI, Flexion contracture	OMIM:617562
Idiopathic Neonatal Atrial Flutter	Tachypnea, Respiratory distress	ORPHA:45452
Joubert Syndrome 9	Ventriculomegaly, Molar tooth sign on MRI, Encephalocele	OMIM:612285
Microphthalmia, Syndromic 5	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610125
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Hydrocephalus, Communicating hydrocephalus, Microcephaly, Colpocephaly, Simplified...	OMIM:615219
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Secondary microcephaly, Hypoplasia of the corpus callosum, Knee flexion contracture, Elbow flexio...	OMIM:300868
Bickerstaff Brainstem Encephalitis	Abnormal thalamic MRI signal intensity, Abnormal cranial nerve morphology, Facial palsy, Abnormal...	ORPHA:79138
Ane Syndrome	Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio...	ORPHA:157954
Myopathy And Diabetes Mellitus	Respiratory distress	ORPHA:2596
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Hydrocephalus, Dilated third ventricle, Lateral ventricle dilatation	OMIM:619575
Joubert Syndrome 40	Optic nerve hypoplasia, Molar tooth sign on MRI	OMIM:619582
Lethal Recessive Chondrodysplasia	Respiratory distress	ORPHA:1423
Microphthalmia With Brain And Digit Anomalies	Microphthalmia, Anophthalmia	ORPHA:139471
Meckel Syndrome, Type 4	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Anencephaly, Encephalocele, Meningoce...	OMIM:611134
Fanconi Anemia, Complementation Group I	Decreased response to growth hormone stimulation test, Optic nerve hypoplasia, Microcephaly, Colp...	OMIM:609053
Amyotrophic Lateral Sclerosis 20	Muscular dystrophy, Rimmed vacuoles, Amyotrophic lateral sclerosis, Muscle fiber inclusion bodies	OMIM:615426
Cockayne Syndrome Type 2	Hepatomegaly, Anophthalmia	ORPHA:90322
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia	OMIM:147250
Joubert Syndrome 16	Dandy-Walker malformation, Molar tooth sign on MRI, Encephalocele	OMIM:614465
Weaver Syndrome	Diastasis recti, Camptodactyly, Lateral ventricle dilatation, Ventriculomegaly, Absent septum pel...	OMIM:277590
Idiopathic Camptocormia	Cerebral atrophy, Syringomyelia, Fatty replacement of skeletal muscle, Myelitis, Myositis, Abnorm...	ORPHA:1320
Developmental And Epileptic Encephalopathy 31B	Optic atrophy, Secondary microcephaly, Thin corpus callosum, Reduced cerebral white matter volume...	OMIM:620352
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor	OMIM:617121
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Optic atrophy, Periventricular leukomalacia, Thin corpus callosum, Hydrocephalus, Microcephaly, C...	OMIM:619833
Long-Olsen-Distelmaier Syndrome	Microspherophakia, Optic nerve hypoplasia, Secundum atrial septal defect, Cardiomegaly, Dilated c...	OMIM:620609
Linear Skin Defects With Multiple Congenital Anomalies 3	Agenesis of corpus callosum, Lateral ventricle dilatation	OMIM:300952
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly	OMIM:600649
Prader-Willi Syndrome Due To Translocation	Decreased response to growth hormone stimulation test, Anterior pituitary hypoplasia, Cerebral co...	ORPHA:177907
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Paradoxical respiration, Respiratory distress	OMIM:620011
Diaphanospondylodysostosis	Respiratory distress	ORPHA:66637
Craniopharyngioma	Optic atrophy, Enlarged pituitary gland, Hydrocephalus, Cerebral calcification, Pituitary hypothy...	ORPHA:54595
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:205200
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Respiratory distress	OMIM:613561
Joubert Syndrome 4	Molar tooth sign on MRI, Thickened superior cerebellar peduncle, Elongated superior cerebellar pe...	OMIM:609583
Noonan Syndrome 14	Scapular winging, Lateral ventricle dilatation	OMIM:619745
Congenital Tricuspid Valve Dysplasia	Tricuspid valve prolapse, Hepatomegaly, Abnormal tricuspid valve annulus morphology, Patent foram...	ORPHA:555874
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Death in infancy, Microcephaly, Colpocephaly, Lateral ventricle dilatation, Abnormal cortical gyr...	OMIM:210710
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)	Respiratory distress	OMIM:612075
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology, Generalized amyotrophy, Corpus callosum atrophy	OMIM:601162
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Respiratory distress	ORPHA:254864
Folinic Acid-Responsive Seizures	Apnea, Respiratory distress	ORPHA:79097
Microphthalmia With Limb Anomalies	Microphthalmia, Anophthalmia	OMIM:206920
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:205250
Diaphragmatic Hernia 5, X-Linked	Congenital diaphragmatic hernia, Neonatal death	OMIM:306950
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Polymicrogyria, Hypothalamic hamartoma, Porencephalic cyst, Occipital me...	OMIM:277170
Fixed Subaortic Stenosis	Atrioventricular canal defect, Cardiomegaly, Bacterial endocarditis, Pulmonic stenosis, Abnormal ...	ORPHA:3092
Amyotrophic Lateral Sclerosis 9	Distal amyotrophy, Amyotrophic lateral sclerosis	OMIM:611895
Joubert Syndrome 1	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Brainstem dysplasia, Occipital m...	OMIM:213300
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Death in childhood, Camptodactyly, Microcephaly, Flexion contracture	OMIM:604273
Infantile Sialic Acid Storage Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:269920
Uruguay Faciocardiomusculoskeletal Syndrome	Left atrial enlargement, Ventricular hypertrophy, Cardiomyopathy, Hypertrophic cardiomyopathy, Le...	OMIM:300280
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Microcephaly, Polymicrogyria, Colpocephaly	OMIM:618731
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Dyspnea, Respiratory distress	ORPHA:86812
Odontochondrodysplasia	Death in infancy, Respiratory distress	ORPHA:166272
Cerebellar-Facial-Dental Syndrome	Hypoplasia of the corpus callosum, Periventricular leukomalacia, Limb hypertonia, Foot joint cont...	ORPHA:444072
Matthew-Wood Syndrome	Microphthalmia, Anophthalmia	ORPHA:2470
Surfactant Metabolism Dysfunction, Pulmonary, 3	Exertional dyspnea, Respiratory distress, Dyspnea, Death in infancy, Apnea, Neonatal death, Tachy...	OMIM:610921
Joubert Syndrome 32	Polymicrogyria, Molar tooth sign on MRI	OMIM:617757
Weiss-Kruszka Syndrome	Hypoplasia of the corpus callosum, Colpocephaly, Agenesis of corpus callosum, Left ventricular hy...	OMIM:618619
Mitochondrial Dna Depletion Syndrome, Myopathic Form	Respiratory distress	ORPHA:254875
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia	Proximal amyotrophy, Amyotrophic lateral sclerosis	OMIM:608030
Joubert Syndrome 23	Dysplastic corpus callosum	OMIM:616490
Myotubular Myopathy With Abnormal Genital Development	Death in infancy, Neonatal death, Respiratory distress	OMIM:300219
Progressive Supranuclear Palsy-Corticobasal Syndrome	Respiratory distress	ORPHA:240103
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Cardiomegaly, Hepatomegaly	OMIM:619064
Joubert Syndrome With Oculorenal Defect	Molar tooth sign on MRI, Aganglionic megacolon, Encephalocele, Hydrocephalus, Aplasia/Hypoplasia ...	ORPHA:2318
Gabriele-De Vries Syndrome	Cortical dysplasia, Distal arthrogryposis, Lateral ventricle dilatation, Facial hypotonia	OMIM:617557
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Abnormal posturing, Tachypnea	OMIM:614857
Recurrent Respiratory Papillomatosis	Tachypnea, Dyspnea, Respiratory distress	ORPHA:60032
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5	Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619141
Primary Lateral Sclerosis	Abnormal upper motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy	ORPHA:35689
Joubert Syndrome 6	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Dilated fourth ventricle, Enlarg...	OMIM:610688
Walker-Warburg Syndrome	Microphthalmia, Anophthalmia	ORPHA:899
Joubert Syndrome 10	Microcephaly, Molar tooth sign on MRI	OMIM:300804
Amyotrophic Lateral Sclerosis 8	Distal amyotrophy, Abnormal pyramidal tract morphology, Proximal amyotrophy, Skeletal muscle atro...	OMIM:608627
Combined Oxidative Phosphorylation Deficiency 53	Secondary microcephaly, Dysplastic corpus callosum, Death in childhood, Death in infancy, General...	OMIM:619423
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Death in infancy, Tachypnea, Respiratory distress	OMIM:614299
Cardiomyopathy, Familial Hypertrophic, 4	Ventricular septal hypertrophy, Muscular ventricular septal defect, Hepatomegaly, Ventricular hyp...	OMIM:115197
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum	OMIM:618929
Neurocardiofaciodigital Syndrome	Hypoplasia of the corpus callosum, Cavum septum pellucidum, Microcephaly, Dilated fourth ventricl...	OMIM:619869
Attrv122I Amyloidosis	Cardiac amyloidosis, Restrictive cardiomyopathy, Hypertrophic cardiomyopathy, Aortic valve stenos...	ORPHA:85451
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Mulibrey Nanism	Cardiomegaly, Hepatomegaly, Myocardial fibrosis, Pericardial constriction	OMIM:253250
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Combined Oxidative Phosphorylation Deficiency 10	Cardiomegaly, Pericardial effusion, Hypertrophic cardiomyopathy	OMIM:614702
Thyroid Lymphoma	Dyspnea, Respiratory distress	ORPHA:97285
Neurogenic Arthrogryposis Multiplex Congenita	Respiratory distress	ORPHA:1143
Amyotrophic Lateral Sclerosis 18	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:614808
Congenital Diaphragmatic Hernia	Respiratory distress	ORPHA:2140
Carnitine Deficiency, Systemic Primary	Hepatomegaly, Cardiomyopathy, Hypertrophic cardiomyopathy, Cardiomegaly, Endocardial fibroelastosis	OMIM:212140
Joubert Syndrome 25	Molar tooth sign on MRI	OMIM:616781
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Molar tooth sign on MRI, Anen...	OMIM:616546
Hereditary Pulmonary Alveolar Proteinosis	Tachypnea, Respiratory distress	ORPHA:264675
Mitochondrial Complex Iv Deficiency, Nuclear Type 7	Cardiomegaly, Ventricular hypertrophy, Hypertrophic cardiomyopathy	OMIM:619051
Nipah Virus Disease	Respiratory distress	ORPHA:99825
Coenzyme Q10 Deficiency, Primary, 8	Respiratory distress	OMIM:616733
Helsmoortel-Van Der Aa Syndrome	Decreased response to growth hormone stimulation test, Facial palsy, Lateral ventricle dilatation...	OMIM:615873
Joubert Syndrome 37	Hypoplasia of the corpus callosum, Molar tooth sign on MRI	OMIM:619185
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Even-Plus Syndrome	Dysplastic corpus callosum, Agenesis of corpus callosum	OMIM:616854
Gangliocytoma	Spinal cord tumor, Syringomyelia, Adrenocorticotropic hormone excess, Abnormal brainstem morpholo...	ORPHA:251937
Acute Lung Injury	Tachypnea, Dyspnea, Respiratory distress	ORPHA:178320
X-Linked Centronuclear Myopathy	Respiratory distress	ORPHA:596
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Tricuspid valve prolapse, Aniridia, Anophthalmia	ORPHA:1101
Developmental And Epileptic Encephalopathy 49	Optic atrophy, Dysplastic corpus callosum, Hydrocephalus, Cerebral calcification, Dandy-Walker ma...	OMIM:617281
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies	Hypoplasia of the corpus callosum, Decreased response to growth hormone stimulation test, Microce...	OMIM:617260
Aorta Coarctation	Perimembranous ventricular septal defect, Cardiomegaly, Abnormal left ventricular outflow tract m...	ORPHA:1457
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema	Respiratory distress	ORPHA:100057
Microphthalmia, Syndromic 3	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, Optic nerve aplasia, Ventricular septal defect	OMIM:206900
Pulmonary Non-Tuberculous Mycobacterial Infection	Dyspnea, Respiratory distress	ORPHA:411703
Distal 7Q11.23 Microduplication Syndrome	Hydrocephalus, Frontal encephalocele, Congenital diaphragmatic hernia	ORPHA:261102
Paternal 20Q13.2Q13.3 Microdeletion Syndrome	Respiratory distress	ORPHA:261304
Fibular Hemimelia	Abnormal heart morphology, Anophthalmia	ORPHA:93323
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Abnormal brainstem morphology, Dandy-Walker malformation, Hydrocephalus, Ventriculomegaly, Abnorm...	ORPHA:163961
Coronary Arterial Fistula	Atrial septal defect, Cardiomegaly, Bacterial endocarditis, Patent foramen ovale, Aortic valve st...	ORPHA:2041
Huntington Disease-Like 1	Abnormal posturing	ORPHA:157941
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis, Skeletal muscle atrophy	OMIM:612069
Holoprosencephaly-Caudal Dysgenesis Syndrome	Microcephaly, Abnormality of the diencephalon, Holoprosencephaly	ORPHA:2165
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Irregular respiration, Death in infancy, Respiratory distress	OMIM:604377
Mucopolysaccharidosis, Type Iiib	Cardiomegaly, Hepatomegaly, Splenomegaly, Asymmetric septal hypertrophy	OMIM:252920
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Intellectual Disability-Strabismus Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Decreased response to growth ...	ORPHA:363528
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Hypoplasia of the corpus callosum, Abnormal brainstem morphology, Polymicrogyria, Hypoglycosylati...	ORPHA:370997
Congenital Pulmonary Lymphangiectasia	Respiratory distress	ORPHA:2414
Neurodegeneration With Brain Iron Accumulation 4	Optic atrophy, Distal amyotrophy, Scapular winging, Lewy bodies, Eye of the tiger anomaly of glob...	OMIM:614298
Neuraminidase Deficiency	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:256550
Inhalational Anthrax	Dyspnea, Respiratory distress	ORPHA:247257
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormal brainstem morphology, Abnormality of the diencephalon, Hydrocephalus	ORPHA:2720
Stt3B-Cdg	Respiratory distress	ORPHA:370924
Cockayne Syndrome Type 1	Hepatomegaly, Anophthalmia	ORPHA:90321
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Respiratory distress	ORPHA:289916
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28	Respiratory distress	OMIM:620375
Acrocallosal Syndrome	Congenital diaphragmatic hernia, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus call...	ORPHA:36
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Dyspnea, Respiratory distress	ORPHA:2759
Autosomal Recessive Cutis Laxa Type 2A	Secondary microcephaly, Dysplastic corpus callosum, Dandy-Walker malformation, Thick cerebral cor...	ORPHA:357058
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Optic atrophy, Periventricular leukomalacia, Hypoplasia of the corpus callosum, Ischemic stroke, ...	ORPHA:500150
Isolated Right Ventricular Hypoplasia	Muscular ventricular septal defect, Patent foramen ovale, Right atrial enlargement, Cardiomegaly,...	ORPHA:439
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Anaplastic Thyroid Carcinoma	Dyspnea, Respiratory distress	ORPHA:142
Choreoacanthocytosis	Abnormal putamen morphology, Frontal cortical atrophy, Distal amyotrophy, Abnormal autonomic nerv...	ORPHA:2388
Acquired Methemoglobinemia	Dyspnea, Respiratory distress	ORPHA:464453
Timothy Syndrome	Cardiomegaly, Patent foramen ovale, Ventricular septal defect, Tetralogy of Fallot	OMIM:601005
Glycosylphosphatidylinositol Biosynthesis Defect 17	Microcephaly, Dysplastic corpus callosum	OMIM:618010
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Cerebral cortical atrophy, Neurogenic bladder, Amyotrophic lateral sclerosis	OMIM:615911
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle	OMIM:618161
Lissencephaly Syndrome, Norman-Roberts Type	Respiratory distress	ORPHA:89844
Orofaciodigital Syndrome Type 14	Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Dandy-Walker malformation, Open operc...	ORPHA:434179
Hypoglossia With Situs Inversus	Respiratory distress	OMIM:612776
Congenital Disorder Of Glycosylation, Type Ie	Respiratory distress	OMIM:608799
Cantu Syndrome	Cardiomegaly, Bicuspid aortic valve, Pericardial effusion, Congenital hypertrophy of left ventricle	OMIM:239850
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Respiratory distress	ORPHA:79312
Combined Oxidative Phosphorylation Deficiency 41	Cardiomegaly	OMIM:618838
Microgastria-Limb Reduction Defect Syndrome	Microphthalmia, Hepatomegaly, Anophthalmia, Truncus arteriosus, Atrial septal defect	ORPHA:2538
Fructose-1,6-Bisphosphatase Deficiency	Respiratory distress, Dyspnea, Intermittent hyperventilation, Apneic episodes in infancy, Episodi...	ORPHA:348
Alpha-N-Acetylgalactosaminidase Deficiency	Cardiomegaly	ORPHA:3137
Holoprosencephaly	Microphthalmia, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect, Abnormal pulmonary ...	ORPHA:2162
Brown-Vialetto-Van Laere Syndrome 1	Nocturnal hypoventilation, Death in childhood, Dyspnea, Respiratory distress	OMIM:211530
Spondyloenchondrodysplasia	Abnormal lateral ventricle morphology, Decreased response to growth hormone stimulation test, Cer...	ORPHA:1855
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Hypothalamic hamartoma, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2754
Avian Influenza	Tachypnea, Miscarriage, Dyspnea, Respiratory distress	ORPHA:454836
Spinocerebellar Ataxia Type 1	Optic atrophy, Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Abnormal br...	ORPHA:98755
Odontochondrodysplasia 1	Death in infancy, Respiratory distress	OMIM:184260
Cryptogenic Organizing Pneumonia	Dyspnea, Respiratory distress	ORPHA:1302
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome	Microcephaly, Congenital diaphragmatic hernia	ORPHA:438134
Holocarboxylase Synthetase Deficiency	Tachypnea, Respiratory distress	ORPHA:79242
Developmental And Epileptic Encephalopathy 68	Respiratory distress	OMIM:618201
Hemochromatosis, Type 1	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	OMIM:235200
Chromosome 1P36 Deletion Syndrome, Distal	Optic atrophy, Hypoplasia of the corpus callosum, Hydrocephalus, Polymicrogyria, Camptodactyly, C...	OMIM:607872
Microcephaly 26, Primary, Autosomal Dominant	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly, Simplified gyral pat...	OMIM:619179
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Microphthalmia, Anophthalmia	OMIM:615877
Coach Syndrome 1	Occipital encephalocele, Molar tooth sign on MRI, Encephalocele, Optic disc pallor	OMIM:216360
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Respiratory distress	OMIM:250940
Emanuel Syndrome	Cerebral atrophy, Congenital diaphragmatic hernia, Hydrocephalus, Dandy-Walker malformation, Micr...	ORPHA:96170
Ciliary Dyskinesia, Primary, 53	Situs inversus totalis, Perimembranous ventricular septal defect, Patent foramen ovale, Common at...	OMIM:620642
Joubert Syndrome 38	Decreased response to growth hormone stimulation test, Ectopic posterior pituitary, Molar tooth s...	OMIM:619476
Lennox-Gastaut Syndrome	Abnormal brainstem morphology	ORPHA:2382
Slc35A1-Cdg	Respiratory distress	ORPHA:238459
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Neonatal death	OMIM:618810
Classic Pantothenate Kinase-Associated Neurodegeneration	Abnormal posturing	ORPHA:216866
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris	Microcephaly, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1166
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Aortic valve stenosis, Abnormal atrioventricular valve morphology, Cardiomegaly, Mitral valve pro...	ORPHA:324410
Schisis Association	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida, Microcephaly	ORPHA:63862
Vocal Cord And Pharyngeal Distal Myopathy	Decreased nerve conduction velocity, Distal upper limb amyotrophy, Rimmed vacuoles, Abnormality o...	ORPHA:600
Episodic Ataxia Type 1	Respiratory distress	ORPHA:37612
Microphthalmia With Linear Skin Defects Syndrome	Tricuspid valve prolapse, Microphthalmia, Anophthalmia, Hypertrophic cardiomyopathy, Mitral valve...	ORPHA:2556
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities	Hypoplasia of the corpus callosum, Secondary microcephaly, Colpocephaly, Agenesis of corpus callo...	OMIM:620113
Gaucher Disease, Type Iiic	Hepatomegaly, Mitral valve calcification, Mitral stenosis, Splenomegaly, Aortic valve calcificati...	OMIM:231005
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Respiratory distress	ORPHA:544503
Chitayat Syndrome	Respiratory distress	OMIM:617180
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Respiratory distress	ORPHA:927
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Microcephaly, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:618367
Keppen-Lubinsky Syndrome	Microcephaly, Flexion contracture, Lateral ventricle dilatation	OMIM:614098
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Tularemia	Respiratory distress	ORPHA:3392
Staphylococcal Necrotizing Pneumonia	Tachypnea, Dyspnea, Respiratory distress	ORPHA:36238
15Q24 Microdeletion Syndrome	Microcephaly, Decreased response to growth hormone stimulation test, Congenital diaphragmatic her...	ORPHA:94065
Amyotrophic Lateral Sclerosis	Progressive spinal muscular atrophy, Progressive distal muscular atrophy, Upper limb muscle weakn...	ORPHA:803
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly	Respiratory distress	OMIM:617102
Alfadhel Syndrome	Nasal flaring	OMIM:620655
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
N-Acetylglutamate Synthase Deficiency	Tachypnea, Respiratory distress	OMIM:237310
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Pachygyria, Lateral ventricle dilatation	OMIM:263520
Isolated Atp Synthase Deficiency	Respiratory distress	ORPHA:254913
Vacterl With Hydrocephalus	Microphthalmia, Anophthalmia	ORPHA:3412
Craniofrontonasal Dysplasia	Microcephaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplasia of the corpus ...	ORPHA:1520
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomegaly, Hepatomegaly	ORPHA:42
Refsum Disease, Classic	Cardiomegaly, Cardiomyopathy	OMIM:266500
Emanuel Syndrome	Cerebral atrophy, Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Torticollis...	OMIM:609029
Alpha-N-Acetylgalactosaminidase Deficiency Type 1	Optic atrophy, Generalized amyotrophy, Abnormal brainstem morphology	ORPHA:79279
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:613435
Tetanus	Tachypnea, Respiratory distress	ORPHA:3299
Ciliary Dyskinesia, Primary, 2	Respiratory distress	OMIM:606763
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans	Neonatal death, Central apnea, Respiratory distress	OMIM:616482
Joubert Syndrome 8	Occipital encephalocele, Molar tooth sign on MRI, Optic disc pallor	OMIM:612291
Heterotaxy, Visceral, 1, X-Linked	Enlarged kidney, Pulmonic stenosis, Cardiomegaly, Right atrial isomerism, Transposition of the gr...	OMIM:306955
Microphthalmia, Syndromic 2	Microphthalmia, Dextrocardia, Anophthalmia, Pulmonic stenosis, Aortic valve stenosis, Mitral valv...	OMIM:300166
Muscular Dystrophy, Congenital, With Or Without Seizures	Respiratory distress	OMIM:620166
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Diaphragmatic eventration, Agenesis of corpus callosum, Aplasia/...	OMIM:222448
Myotonic Dystrophy 1	Respiratory distress	OMIM:160900
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia	Lewy bodies, Amyotrophic lateral sclerosis, Limb muscle weakness	OMIM:619133
Oculocerebrocutaneous Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Polymicrogyria, Dandy-Walker malformation, Ventri...	ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 33	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Left ventricular hypertrophy	OMIM:617713
Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:600274
Idiopathic Pulmonary Hemosiderosis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	ORPHA:99931
Moebius Syndrome	Respiratory distress	OMIM:157900
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:300857
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Atrial septal defect, Microphthalmia, Anophthalmia	ORPHA:2526
Diaphragmatic Hernia 3	Congenital diaphragmatic hernia	OMIM:610187
Diaphragmatic Hernia, Congenital	Congenital diaphragmatic hernia	OMIM:142340
Meckel Syndrome	Situs inversus totalis, Microphthalmia, Aplasia/Hypoplasia of the iris, Anophthalmia	ORPHA:564
Restrictive Dermopathy 2	Respiratory distress	OMIM:619793
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Microphthalmia, Anophthalmia	ORPHA:2250
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Hypoventilation, Apnea, Respiratory distress	ORPHA:314655
Non-24-Hour Sleep-Wake Syndrome	Abnormal pineal melatonin secretion	ORPHA:73267
8p23.1 deletion syndrome	Congenital diaphragmatic hernia	DECIPHER:39
Infant Acute Respiratory Distress Syndrome	Tachypnea, Nasal flaring	ORPHA:70587
Nasolacrimal Duct Cyst	Episodic respiratory distress, Paroxysmal dyspnea, Intercostal retractions	ORPHA:141083
Combined Oxidative Phosphorylation Deficiency 12	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Ragged-red muscle fibers, Agenesis...	OMIM:614924
Hsd10 Disease, Infantile Type	Cardiomegaly, Hypertrophic cardiomyopathy	ORPHA:391428
Arterial Calcification, Generalized, Of Infancy, 2	Cardiomegaly, Right atrial enlargement	OMIM:614473
Multiple Acyl-Coa Dehydrogenase Deficiency	Neonatal death, Respiratory distress	OMIM:231680
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type	Stillbirth, Respiratory distress	OMIM:151210
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Optic atrophy, Hypoplasia of the corpus callosum, Secondary microcephaly, Aganglionic megacolon, ...	ORPHA:261552
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cardiomegaly, Ventricular septal defect, Hypertrophic cardiomyopathy	OMIM:616897
Sporadic Infantile Bilateral Striatal Necrosis	Abnormal posturing, Titubation	ORPHA:225147
Orofaciodigital Syndrome Xvi	Ventriculomegaly, Molar tooth sign on MRI	OMIM:617563
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Abnormal brainstem morphology, Dilated fourth ventricle, Elongated superior cerebellar peduncle	ORPHA:370022
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs	Respiratory distress	ORPHA:226313
Mercury Poisoning	Dyspnea, Respiratory distress	ORPHA:330021
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Respiratory distress	OMIM:619383
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy	OMIM:201475
16Q24.3 Microdeletion Syndrome	Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Ventriculomegaly, Colpocephaly	ORPHA:261250
Lenz-Majewski Hyperostotic Dwarfism	Dysplastic corpus callosum, Spina bifida occulta, Anterior pituitary hypoplasia, Elbow flexion co...	OMIM:151050
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome	Congenital diaphragmatic hernia, Ventriculomegaly, Death in infancy, Spina bifida	ORPHA:1120
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Exertional dyspnea, Death in childhood, Respiratory distress	OMIM:220110
Cerebellofaciodental Syndrome	Thin corpus callosum, Hypoplasia of the pons, Microcephaly, Hypoplasia of the midbrain, Ventricul...	OMIM:616202
Cerebrooculonasal Syndrome	Optic nerve hypoplasia, Anophthalmia	OMIM:605627
Juvenile Amyotrophic Lateral Sclerosis	Retrocollis, Lower-limb joint contracture, Distal amyotrophy, Microcephaly, Upper-limb joint cont...	ORPHA:300605
Meconium Aspiration Syndrome	Respiratory distress	ORPHA:70588
Meckel Syndrome, Type 1	Occipital encephalocele, Molar tooth sign on MRI, Anencephaly, Hydrocephalus, Dandy-Walker malfor...	OMIM:249000
Oculocerebrofacial Syndrome, Kaufman Type	Dyspnea, Respiratory distress	ORPHA:2707
Agnathia-Otocephaly Complex	Respiratory distress	OMIM:202650
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Respiratory distress	OMIM:617895
Peroxisome Biogenesis Disorder 5A (Zellweger)	Optic nerve dysplasia, Optic atrophy, Polymicrogyria, Death in adolescence, Camptodactyly, Death ...	OMIM:614866
Cirrhotic Cardiomyopathy	Left atrial enlargement, Hepatomegaly, Right atrial enlargement, Left ventricular hypertrophy, Ca...	ORPHA:57777
Double Outlet Left Ventricle	Pulmonary valve atresia, Double outlet left ventricle, Tricuspid atresia, Bicuspid pulmonary valv...	ORPHA:3427
Joubert Syndrome 21	Splenomegaly, Anophthalmia	OMIM:615636
Spinal muscular atrophy, type I, with congenital bone fractures	Respiratory distress	OMIM:271225
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Microcephaly, Focal polymicrogyria, Partial agenesis of the corpus callosum, Dysplastic corpus ca...	OMIM:619103
Primary Dystonia, Dyt4 Type	Respiratory distress	ORPHA:98805
Gaucher Disease, Perinatal Lethal	Apnea, Neonatal death, Respiratory distress	OMIM:608013
Scalp-Ear-Nipple Syndrome	Lateral ventricle dilatation	OMIM:181270
Donnai-Barrow Syndrome	Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus callosum	ORPHA:2143
Congenital Disorder Of Glycosylation, Type Iim	Microcephaly, Cerebral atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum	OMIM:300896
Dystonia 1, Torsion, Autosomal Dominant	Abnormal posturing	OMIM:128100
Linear Skin Defects With Multiple Congenital Anomalies 1	Congenital diaphragmatic hernia, Hydrocephalus, Microcephaly, Colpocephaly, Agenesis of corpus ca...	OMIM:309801
Orofaciodigital Syndrome Xiv	Hypoplasia of the corpus callosum, Occipital encephalocele, Molar tooth sign on MRI, Polymicrogyr...	OMIM:615948
Beck-Fahrner Syndrome	Cardiomegaly, Ventricular septal defect	OMIM:618798
Cebalid Syndrome	Congenital diaphragmatic hernia, Polymicrogyria	OMIM:618774
Tonne-Kalscheuer Syndrome	Microcephaly, Congenital diaphragmatic hernia	OMIM:300978
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Congenital diaphragmatic hernia	ORPHA:2141
Craniofaciofrontodigital Syndrome	Cardiomegaly, Abnormal heart valve morphology, Aortic valve stenosis, Pericardial effusion, Bicus...	ORPHA:363705
Fryns Syndrome	Congenital diaphragmatic hernia, Aganglionic megacolon, Dandy-Walker malformation, Cerebral corti...	ORPHA:2059
Kapur-Toriello Syndrome	Dysplastic corpus callosum, Polymicrogyria, Pachygyria	ORPHA:2328
Mitochondrial Complex I Deficiency, Nuclear Type 37	Respiratory distress	OMIM:619272
Cerebrofacioarticular Syndrome	Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Camptodactyly, Microcephaly, Agene...	ORPHA:314679
Alobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormal brainstem mor...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormal brainstem mor...	ORPHA:93926
Lobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormal brainstem mor...	ORPHA:93924
Semilobar Holoprosencephaly	Decreased response to growth hormone stimulation test, Neural tube defect, Abnormal brainstem mor...	ORPHA:220386
Proximal 16P11.2 Microduplication Syndrome	Microcephaly, Abnormal basal ganglia MRI signal intensity, Congenital diaphragmatic hernia	ORPHA:370079
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Biliary, Renal, Neurologic, And Skeletal Syndrome	Frontotemporal cerebral atrophy, Aqueductal stenosis, Hydrocephalus, Anterior pituitary hypoplasi...	OMIM:619534
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction	Tachypnea, Respiratory distress	OMIM:610978
Sandifer Syndrome	Abnormal posturing	ORPHA:71272
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Cardiomegaly	OMIM:613320
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Decreased response to growth hormone stimulation test, Abnormal autonomic nervous system physiolo...	ORPHA:293987
Charge Syndrome	Microphthalmia, Abnormal aortic valve morphology, Anophthalmia, Tetralogy of Fallot, Abnormal car...	ORPHA:138
Complete Atrioventricular Septal Defect	Displacement of the papillary muscles, Hepatomegaly, Primum atrial septal defect, Right ventricul...	ORPHA:1329
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Respiratory distress	OMIM:606164
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9	Death in childhood, Respiratory distress, Death in infancy, Apnea, Hypopnea	OMIM:618426
Oromandibular Dystonia	Respiratory distress	ORPHA:93958
Combined Oxidative Phosphorylation Deficiency 19	Respiratory distress	OMIM:615595
Danon Disease	Myocardial necrosis, Hypertrophic cardiomyopathy, Myocardial fibrosis, Cardiomegaly, Dilated card...	OMIM:300257
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Dysplastic corpus callosum, Ventriculomegaly, Camptodactyly	ORPHA:363444
Familial Aortic Dissection	Cardiomegaly	ORPHA:229
Proboscis Lateralis	Optic nerve hypoplasia, Microphthalmia, Ventricular septal defect, Anophthalmia	ORPHA:141099
Zaki Syndrome	Microcephaly, Dilated fourth ventricle, Congenital diaphragmatic hernia, Hypoplasia of the corpus...	OMIM:619648
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Respiratory distress	ORPHA:329178
Arima Syndrome	Optic atrophy, Molar tooth sign on MRI, Brainstem dysplasia, Dilated fourth ventricle, Occipital ...	OMIM:243910
Fraser Syndrome 1	Bilateral microphthalmos, Abnormal heart morphology, Anophthalmia	OMIM:219000
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Microcephaly, Intrinsic hand muscle atrophy, Dysplastic corpus callosum, Hypoplasia of the corpus...	OMIM:618569
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Tachypnea, Episodic tachypnea, Respiratory distress	ORPHA:26793
Thakker-Donnai Syndrome	Congenital diaphragmatic hernia, Agenesis of corpus callosum, Communicating hydrocephalus	ORPHA:1780
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Decreased pineal volume, Death in childhood	OMIM:301108
Mucopolysaccharidosis-Plus Syndrome	Death in childhood, Respiratory distress	OMIM:617303
Synaptic Congenital Myasthenic Syndromes	Hypoventilation, Exertional dyspnea, Respiratory distress	ORPHA:98915
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Optic nerve hypoplasia, Septo-optic dyspla...	OMIM:301043
Carnitine Palmitoyltransferase I Deficiency	Cardiomegaly, Hepatomegaly	OMIM:255120
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Stillbirth, Molar tooth sign on MRI, Dandy-Walker malformation, Encephalocele	OMIM:616300
Kniest Dysplasia	Respiratory distress	OMIM:156550
47,Xyy Syndrome	Abnormal brainstem morphology, Increased circulating gonadotropin level, Hydrocephalus	ORPHA:8
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Respiratory distress	OMIM:251000
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8	Amyotrophic lateral sclerosis, Neurofibrillary tangles	OMIM:619132
Naxos Disease	Right ventricular cardiomyopathy, Abnormal morphology of right ventricular trabeculae, Abnormal h...	OMIM:601214
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Death in infancy, Death in childhood, Respiratory distress	OMIM:620278
Lowry-Maclean Syndrome	Hydrocephalus, Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Microc...	ORPHA:2409
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Hypoplasia of the corpus callosum, Ankle flexion contracture, Abnormal brainstem morphology, Micr...	ORPHA:464311
Multicentric Carpotarsal Osteolysis Syndrome	Congenital diaphragmatic hernia	OMIM:166300
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Bicuspid aortic valve, Abnormally large globe, Patent foramen ovale, Mitral valve prolapse, Left ...	OMIM:245600
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Respiratory distress	ORPHA:367
Fetal Encasement Syndrome	Congenital diaphragmatic hernia	OMIM:613630
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Respiratory distress	ORPHA:990
Rodrigues Blindness	Nasal flaring	OMIM:268320
Charge Syndrome	Microphthalmia, Anophthalmia, Unilateral microphthalmos, Pulmonic stenosis, Secundum atrial septa...	OMIM:214800
Pseudo-Torch Syndrome 3	Cardiomegaly	OMIM:618886
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Flexion contracture, Congenital diaphragmatic hernia	OMIM:263210
Mogs-Cdg	Hypoventilation, Apnea, Respiratory distress	ORPHA:79330
Choanal Atresia	Respiratory distress	ORPHA:137914
Triosephosphate Isomerase Deficiency	Death in infancy, Death in adolescence, Respiratory distress	OMIM:615512
Microlissencephaly-Micromelia Syndrome	Respiratory distress	ORPHA:50810
Cutis Laxa-Marfanoid Syndrome	Congenital diaphragmatic hernia, Flexion contracture	ORPHA:171719
Fucosidosis	Cardiomegaly, Hepatomegaly	ORPHA:349
Xp22.13P22.2 Duplication Syndrome	Microcephaly, Congenital diaphragmatic hernia	ORPHA:284180
Diaphanospondylodysostosis	Respiratory distress	OMIM:608022
White-Sutton Syndrome	Optic atrophy, Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Facial hypoton...	ORPHA:468678
Congenital Disorder Of Glycosylation, Type Ig	Respiratory distress	OMIM:607143
Chromosome 1Q41-Q42 Deletion Syndrome	Microcephaly, Ventriculomegaly, Holoprosencephaly, Congenital diaphragmatic hernia	OMIM:612530
Symptomatic Form Of Hfe-Related Hemochromatosis	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Splenomegaly	ORPHA:465508
Kabuki Syndrome 1	Hydrocephalus, Microcephaly, Lateral ventricle dilatation	OMIM:147920
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Hypoplasia of the corpus callosum, Secondary microcephaly, Aganglionic megacolon, Polymicrogyria,...	ORPHA:261537
Surfactant Metabolism Dysfunction, Pulmonary, 2	Tachypnea, Dyspnea, Respiratory distress	OMIM:610913
Tetrasomy 5P	Respiratory distress	ORPHA:3309
Amyloidosis, Hereditary, Transthyretin-Related	Cardiomegaly, Cardiomyopathy	OMIM:105210
Sandhoff Disease	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly	OMIM:268800
White-Sutton Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Thin corpus...	OMIM:616364
Developmental Delay With Or Without Dysmorphic Facies And Autism	Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Atrophy/Degeneration affectin...	OMIM:618454
Glycogen Storage Disease Of Heart, Lethal Congenital	Enlarged kidney, Cardiomyopathy, Hypertrophic cardiomyopathy, Pericardial effusion, Cardiomegaly,...	OMIM:261740
Biotinidase Deficiency	Respiratory distress, Apnea, Hyperventilation	ORPHA:79241
Iniencephaly	Congenital diaphragmatic hernia, Syringomyelia, Anencephaly, Encephalocele, Hydrocephalus, Dandy-...	ORPHA:63259
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment	Cardiomegaly, Partial atrioventricular canal defect, Secundum atrial septal defect, Bicuspid aort...	OMIM:620066
Neurodegeneration With Ataxia And Late-Onset Optic Atrophy	Cardiomegaly, Cardiomyopathy	OMIM:619259
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Microcephaly, Tethered cord, Colpocephaly, Optic disc pallor	OMIM:620083
Neuronal Intestinal Pseudoobstruction	Congenital diaphragmatic hernia	ORPHA:99811
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Cerebral cortical atrophy, Congenital diaphragmatic hernia	ORPHA:1834
Interatrial Communication	Atrial septal defect, Sinus venosus atrial septal defect, Primum atrial septal defect, Secundum a...	ORPHA:1478
Congenital Enterovirus Infection	Respiratory distress	ORPHA:292
Infantile Krabbe Disease	Respiratory distress	ORPHA:206436
Cantú Syndrome	Cardiomegaly, Abnormal heart valve morphology, Hypertrophic cardiomyopathy	ORPHA:1517
Khan-Khan-Katsanis Syndrome	Tethered cord, Microcephaly, Joint contracture, Colpocephaly, Ventriculomegaly	OMIM:618460
Achondroplasia	Death in infancy, Respiratory distress	OMIM:100800
Lethal Congenital Contracture Syndrome 10	Cardiomegaly, Overriding aorta, Ventricular septal defect	OMIM:617022
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome	Respiratory distress	ORPHA:2519
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Congenital diaphragmatic hernia, Agenesis of corpus callosum	ORPHA:268249
Cutis Laxa, Neonatal, With Marfanoid Phenotype	Congenital diaphragmatic hernia	OMIM:614100
Autosomal Recessive Spondylocostal Dysostosis	Congenital diaphragmatic hernia, Spina bifida occulta, Meningocele, Microcephaly, Camptodactyly o...	ORPHA:2311
Osteogenesis Imperfecta, Type X	Death in childhood, Respiratory distress	OMIM:613848
Mandibulofacial Dysostosis, Guion-Almeida Type	Respiratory distress	OMIM:610536
Holoprosencephaly 9	Optic nerve hypoplasia, Microphthalmia, Anophthalmia	OMIM:610829
3-Methylglutaconic Aciduria, Type Viib	Respiratory distress	OMIM:616271
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Respiratory distress	ORPHA:438216
Genitourinary And/Or Brain Malformation Syndrome	Secondary microcephaly, Dysplastic corpus callosum, Polymicrogyria, Holoprosencephaly, Colpocepha...	OMIM:618820
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Hypoplasia of the corpus callosum, Abnormality of the pineal gland, Macroglossia	ORPHA:369950
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Cardiomegaly, Dilated cardiomyopathy, Hepatomegaly, Enlarged kidney	OMIM:608836
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull	Congenital diaphragmatic hernia, Abnormality of the diaphragm	OMIM:601163
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset	Cardiomegaly, Hepatomegaly, Hypertrophic cardiomyopathy, Left ventricular hypertrophy	ORPHA:308552
Sickle Cell Disease	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:603903
Congenital Myasthenic Syndrome	Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden e...	ORPHA:590
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis	Respiratory distress	OMIM:612852
Pachyonychia Congenita	Respiratory distress	ORPHA:2309
Presynaptic Congenital Myasthenic Syndromes	Episodic respiratory distress, Apneic episodes precipitated by illness, fatigue, stress, Sudden e...	ORPHA:98914
Congenital Disorder Of Glycosylation, Type It	Cardiomegaly, Dilated cardiomyopathy, Ventricular septal defect, Hepatomegaly	OMIM:614921
Radio-Renal Syndrome	Dyspnea, Respiratory distress	ORPHA:3015
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Respiratory distress	ORPHA:1555
Proximal 16P11.2 Microdeletion Syndrome	Congenital diaphragmatic hernia, Ventriculomegaly, Syringomyelia	ORPHA:261197
Lethal Acantholytic Erosive Disorder	Cardiomegaly, Cardiomyopathy	ORPHA:158687
Unilateral Polymicrogyria	Abnormal posturing, Apnea	ORPHA:268943
Arterial Calcification, Generalized, Of Infancy, 1	Cardiomegaly, Dilated cardiomyopathy	OMIM:208000
Hydrolethalus Syndrome 1	Stillbirth, Abnormal cortical gyration, Anencephaly, Dandy-Walker malformation, Agenesis of corpu...	OMIM:236680
Seckel Syndrome 9	Microcephaly, Ventriculomegaly, Congenital diaphragmatic hernia, Simplified gyral pattern	OMIM:616777
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Respiratory distress	OMIM:217980
Hereditary Angioedema Type 1	Dyspnea, Respiratory distress	ORPHA:100050
Histiocytosis-Lymphadenopathy Plus Syndrome	Hepatomegaly, Pulmonic stenosis, Hepatosplenomegaly, Splenomegaly, Mitral valve prolapse, Cardiom...	OMIM:602782
Genitopalatocardiac Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Microcephaly	ORPHA:2075
Neurodegeneration And Seizures Due To Copper Transport Defect	Respiratory distress	OMIM:620306
Focal Dermal Hypoplasia	Microphthalmia, Aniridia, Anophthalmia	OMIM:305600
Opitz Gbbb Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Dandy-Walker malformation, Ab...	ORPHA:2745
Bacterial Toxic-Shock Syndrome	Tachypnea, Respiratory distress	ORPHA:36234
Familial Cerebral Saccular Aneurysm	Abnormal brainstem morphology, Encephalomalacia	ORPHA:231160
Farber Disease	Respiratory distress	ORPHA:333
Auriculocondylar Syndrome	Respiratory distress	ORPHA:137888
Histiocytoid Cardiomyopathy	Microphthalmia, Hepatomegaly, Congenital aphakia, Cardiomegaly, Ventricular septal defect	ORPHA:137675
Methylmalonic Aciduria, Cblb Type	Respiratory distress	OMIM:251110
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Dysplastic corpus callosum, Thick corpus callosum, Right ventricular hypertrophy, Left ventricula...	OMIM:300967
Pfeiffer Syndrome Type 2	Respiratory distress	ORPHA:93259
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Cardiomegaly, Hepatomegaly, Cardiomyopathy, Abnormal myocardium morphology	ORPHA:228308
Lymphatic Malformation 7	Respiratory distress	OMIM:617300
Methylmalonic Aciduria, Cbla Type	Respiratory distress	OMIM:251100
Spondyloepiphyseal Dysplasia Congenita	Respiratory distress	OMIM:183900
Neuromuscular Oculoauditory Syndrome	Respiratory distress	OMIM:618733
Pfeiffer Syndrome Type 3	Respiratory distress	ORPHA:93260
Microphthalmia With Limb Anomalies	Microphthalmia, True anophthalmia	ORPHA:1106
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Respiratory distress	OMIM:300968
Congenital Tracheomalacia	Abnormal heart morphology, Tetralogy of Fallot, Partial anomalous pulmonary venous return, Cardio...	ORPHA:95430
Absence Of The Pulmonary Artery	Patent foramen ovale, Truncus arteriosus, Abnormal heart morphology, Tetralogy of Fallot, Cardiom...	ORPHA:980
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2	Cardiomegaly, Right ventricular hypertrophy	ORPHA:268
Arterial Tortuosity Syndrome	Dyspnea, Respiratory distress	ORPHA:3342
Craniorachischisis	Congenital diaphragmatic hernia, Anencephaly, Myelomeningocele, Spinal dysraphism, Cervical spina...	ORPHA:63260
Craniofrontonasal Syndrome	Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Agenesis of corpus callosum	OMIM:304110
Thrombotic Thrombocytopenic Purpura, Hereditary	Respiratory distress	OMIM:274150
Joubert Syndrome 39	Occipital encephalocele, Molar tooth sign on MRI, Joint contracture of the 5th finger	OMIM:619562
1Q41Q42 Microdeletion Syndrome	Congenital diaphragmatic hernia, Holoprosencephaly	ORPHA:250999
Developmental And Epileptic Encephalopathy 95	Cardiomegaly, Hepatomegaly	OMIM:618143
Truncus Arteriosus	Transposition of the great arteries, Abnormal heart valve morphology, Truncus arteriosus, Pulmoni...	ORPHA:3384
Smith-Lemli-Opitz Syndrome	Hypoplasia of the corpus callosum, Aganglionic megacolon, Hydrocephalus, Dandy-Walker malformatio...	OMIM:270400
Neuroblastoma	Respiratory distress	ORPHA:635
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Death in infancy, Respiratory distress	OMIM:617156
Perlman Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the abdominal wall musculature, Agenesis of corpus...	OMIM:267000
Beare-Stevenson Cutis Gyrata Syndrome	Respiratory distress	OMIM:123790
Cooper-Jabs Syndrome	Congenital diaphragmatic hernia, Camptodactyly of finger	ORPHA:1488
Congenital Myopathy 22B, Severe Fetal	Respiratory distress	OMIM:620369
Fraser Syndrome	Microphthalmia, Anophthalmia	ORPHA:2052
Diamond-Blackfan Anemia 10	Respiratory distress	OMIM:613309
Alternating Hemiplegia Of Childhood	Apnea, Respiratory distress	ORPHA:2131
Mgat2-Cdg	Respiratory distress	ORPHA:79329
Hyperparathyroidism, Transient Neonatal	Respiratory distress	OMIM:618188
Zttk Syndrome	Optic atrophy, Periventricular leukomalacia, Dysplastic corpus callosum, Hypoplasia of the corpus...	OMIM:617140
Trisomy 18	Congenital diaphragmatic hernia, Anencephaly, Spina bifida, Microcephaly, Camptodactyly of finger...	ORPHA:3380
Vici Syndrome	Abnormal posturing	OMIM:242840
13Q12.3 Microdeletion Syndrome	Congenital diaphragmatic hernia, Camptodactyly	ORPHA:412035
Lujo Hemorrhagic Fever	Respiratory distress	ORPHA:319213
Familial Idiopathic Dilatation Of The Right Atrium	Hepatomegaly, Atrial septal dilatation, Right atrial enlargement, Right ventricular hypertrophy, ...	ORPHA:1677
Wolf-Hirschhorn Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Tethered cord, Microcephaly, Agenesis of corpus c...	ORPHA:280
Mucopolysaccharidosis Type 3	Abnormal aortic valve morphology, Hepatomegaly, Abnormal mitral valve morphology, Splenomegaly, A...	ORPHA:581
Fetal Alcohol Syndrome	Microcephaly, Congenital diaphragmatic hernia	ORPHA:1915
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome	Cardiomegaly	ORPHA:2463
Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome	Hypoplasia of the corpus callosum, Lower limb hypertonia, Colpocephaly, Cerebral white matter hyp...	ORPHA:477993
Pagod Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Encephalocele, Meningocele, Spina bifida, Microce...	ORPHA:991
Brain-Lung-Thyroid Syndrome	Respiratory distress	ORPHA:209905
2Q37 Microdeletion Syndrome	Microcephaly, Congenital diaphragmatic hernia	ORPHA:1001
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Apnea, Respiratory distress	ORPHA:17
Mitochondrial Dna-Associated Leigh Syndrome	Episodic respiratory distress, Apnea, Dyspnea, Hyperventilation	ORPHA:255210
Glycogen Storage Disease Ii	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:232300
Sepsis In Premature Infants	Dyspnea, Nasal flaring	ORPHA:90051
Fucosidosis	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:230000
Ramos-Arroyo Syndrome	Respiratory distress	ORPHA:1051
Wilson Disease	Face of the giant panda sign, Decreased nerve conduction velocity, Limb muscle weakness	OMIM:277900
Meier-Gorlin Syndrome 1	Death in infancy, Respiratory distress	OMIM:224690
6Q Terminal Deletion Syndrome	Hypoplasia of the corpus callosum, Polymicrogyria, Colpocephaly, Abnormal cerebral white matter m...	ORPHA:75857
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Respiratory distress	ORPHA:536467
Aymé-Gripp Syndrome	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Hydrocephalus, Camptodactyly,...	ORPHA:1272
Pentalogy Of Cantrell	Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Encephalocele	ORPHA:1335
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Respiratory distress	ORPHA:37042
7Q11.23 Microduplication Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Abnormal optic disc morphology, Simplified gyral ...	ORPHA:96121
Ethylene Glycol Poisoning	Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration	ORPHA:31826
Shwachman-Diamond Syndrome 1	Respiratory distress	OMIM:260400
Cocaine Intoxication	Respiratory distress, Tachypnea, Hyperventilation	ORPHA:90068
Cryptococcosis	Dyspnea, Respiratory distress	ORPHA:1546
Anemia, Sideroblastic, And Spinocerebellar Ataxia	Abnormal brainstem morphology, Basal ganglia gliosis, Abnormal basal ganglia MRI signal intensity	OMIM:301310
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Respiratory distress	ORPHA:505248
Mucolipidosis Ii Alpha/Beta	Enlarged kidney, Hepatomegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiomegaly	OMIM:252500
Congenital Alveolar Capillary Dysplasia	Respiratory distress	ORPHA:210122
Colchicine Poisoning	Respiratory distress	ORPHA:31824
Vacterl/Vater Association	Congenital diaphragmatic hernia, Occipital encephalocele, Anencephaly	ORPHA:887
Joubert Syndrome 5	Occipital encephalocele, Molar tooth sign on MRI, Thickened superior cerebellar peduncle	OMIM:610188
Glycogen Storage Disease Due To Acid Maltase Deficiency	Orthopnea, Exertional dyspnea, Respiratory distress	ORPHA:365
Microphthalmia, Syndromic 6	Microphthalmia, Anophthalmia	OMIM:607932
Q Fever	Respiratory distress	ORPHA:781
Kasabach-Merritt Phenomenon	Hypopnea, Respiratory distress	ORPHA:2330
Acrofacial Dysostosis 1, Nager Type	Congenital diaphragmatic hernia, Aqueductal stenosis, Aganglionic megacolon, Hydrocephalus, Polym...	OMIM:154400
Isolated Arrhinia	Respiratory distress	ORPHA:1134
Esophageal Atresia	Episodic respiratory distress, Respiratory distress	ORPHA:1199
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Respiratory distress	OMIM:256810
Congenital Total Pulmonary Venous Return Anomaly	Infracardiac total anomalous pulmonary venous connection, Atrial situs ambiguous, Transposition o...	ORPHA:99125
Branchiooculofacial Syndrome	Microphthalmia, Anophthalmia	OMIM:113620
Listeriosis	Miscarriage, Respiratory distress	ORPHA:533
Adnp Syndrome	Respiratory distress	ORPHA:404448
8P23.1 Microdeletion Syndrome	Microcephaly, Congenital diaphragmatic hernia	ORPHA:251071
Williams Syndrome	Spina bifida occulta, Death in early adulthood, Atrophy/Degeneration involving the corticospinal ...	ORPHA:904
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Congenital diaphragmatic hernia	ORPHA:2063
Simpson-Golabi-Behmel Syndrome	Congenital diaphragmatic hernia, Dandy-Walker malformation, Death in infancy, Camptodactyly of fi...	ORPHA:373
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Anterior pituitary hypoplasia, Rig...	ORPHA:466791
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Cardiomegaly, Ventricular hypertrophy, Hepatosplenomegaly, Hepatomegaly	OMIM:618278
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Respiratory distress	ORPHA:79282
Intrahepatic Cholestasis Of Pregnancy	Abnormal pineal melatonin secretion	ORPHA:69665
Toxic Epidermal Necrolysis	Respiratory distress	ORPHA:537
Limb Body Wall Complex	Congenital diaphragmatic hernia, Anencephaly, Encephalocele, Spina bifida occulta, Hydrocephalus,...	ORPHA:2369
Monosomy 9P	Microcephaly, Congenital diaphragmatic hernia, Agenesis of corpus callosum	ORPHA:261112
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Cardiomegaly	ORPHA:79280
Ear-Patella-Short Stature Syndrome	Dyspnea, Respiratory distress	ORPHA:2554
Ogden Syndrome	Left atrial enlargement, Perimembranous ventricular septal defect, Enlarged kidney, Cardiomegaly,...	OMIM:300855
Congenital Disorder Of Deglycosylation 1	Respiratory distress	OMIM:615273
Idiopathic Hypereosinophilic Syndrome	Dyspnea, Respiratory distress	ORPHA:3260
Smith-Lemli-Opitz Syndrome	Optic atrophy, Congenital diaphragmatic hernia, Aganglionic megacolon, Microcephaly, Holoprosence...	ORPHA:818
Serkal Syndrome	Congenital diaphragmatic hernia	ORPHA:139466
Isolated Anencephaly	Congenital diaphragmatic hernia	ORPHA:563609
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Bicuspid aortic valve, Cardiomegaly	ORPHA:91387
Ataxia-Telangiectasia-Like Disorder 2	Microcephaly, Joint contracture, Congenital diaphragmatic hernia	OMIM:615919
Spondylodysplastic Ehlers-Danlos Syndrome	Optic nerve hypoplasia, Elbow flexion contracture, Abnormal right hemidiaphragm morphology, Flexi...	ORPHA:536471
Hemorrhagic Fever-Renal Syndrome	Dyspnea, Respiratory distress	ORPHA:340
Paternal Uniparental Disomy Of Chromosome 6	Cardiomegaly, Ventricular septal defect, Hepatomegaly	ORPHA:96191
Witteveen-Kolk Syndrome	Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Decreased response to growth hormo...	OMIM:613406
Osteoglophonic Dysplasia	Respiratory distress	OMIM:166250
Fragile X-Associated Tremor/Ataxia Syndrome	Abnormal brainstem morphology, Cerebral cortical atrophy, Abnormal autonomic nervous system physi...	ORPHA:93256
Focal Dermal Hypoplasia	Congenital diaphragmatic hernia, Camptodactyly of finger, Diastasis recti, Spina bifida	ORPHA:2092
Cornelia De Lange Syndrome 1	Optic atrophy, Congenital diaphragmatic hernia, Elbow flexion contracture, Microcephaly, Optic di...	OMIM:122470
Multiple Pterygium Syndrome, Escobar Variant	Congenital diaphragmatic hernia, Weakness of facial musculature, Camptodactyly, Arthrogryposis mu...	OMIM:265000
Arterial Tortuosity Syndrome	Congenital diaphragmatic hernia, Ischemic stroke, Flexion contracture	OMIM:208050
Aortic Arch Interruption	Tachypnea, Exertional dyspnea, Respiratory distress	ORPHA:2299
Thoracoabdominal Syndrome	Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly	OMIM:313850
Craniofacial Microsomia 1	Microphthalmia, Ventricular septal defect, Tetralogy of Fallot, Anophthalmia	OMIM:164210
Kabuki Syndrome	Congenital diaphragmatic hernia, Hydrocephalus, Cerebral cortical atrophy, Microcephaly, Ventricu...	ORPHA:2322
Congenital Heart Defects And Skeletal Malformations Syndrome	Congenital diaphragmatic hernia, Camptodactyly	OMIM:617602
Pericardial And Diaphragmatic Defect	Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm	ORPHA:2847
Bohring-Opitz Syndrome	Cardiomegaly, Abnormal cardiac septum morphology	ORPHA:97297
Abetalipoproteinemia	Cardiomegaly, Hepatomegaly	ORPHA:14
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Cerebral atrophy, Congenital diaphragmatic hernia	OMIM:614080
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Respiratory distress	OMIM:305100
Non-Syndromic Posterior Hypospadias	Congenital diaphragmatic hernia	ORPHA:95706
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Cardiomyopathy, Pancreatic hyperplasia, Cardiomegaly	OMIM:130650
Oculopharyngodistal Myopathy 1	Respiratory distress	OMIM:164310
Yunis-Varon Syndrome	Microphthalmia, Bilateral microphthalmos, Cardiomyopathy, Tetralogy of Fallot, Cardiomegaly, Atri...	ORPHA:3472
Arboleda-Tham Syndrome	Respiratory distress	OMIM:616268
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Secondary microcephaly, Abnormal lateral ventricle morphology, Syringomyelia, Abnormal corpus cal...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Secondary microcephaly, Abnormal lateral ventricle morphology, Syringomyelia, Abnormal corpus cal...	ORPHA:353277
White-Kernohan Syndrome	Dysplastic corpus callosum	OMIM:619426
Coccidioidomycosis	Respiratory distress	ORPHA:228123
Campomelic Dysplasia	Apnea, Respiratory distress	OMIM:114290
Ferguson-Bonni Neurodevelopmental Syndrome	Congenital diaphragmatic hernia	OMIM:619699
Acro-Renal-Mandibular Syndrome	Congenital diaphragmatic hernia	ORPHA:958
Genitopatellar Syndrome	Thin corpus callosum, Knee flexion contracture, Microcephaly, Hip contracture, Colpocephaly, Pach...	OMIM:606170
Scimitar Syndrome	Respiratory distress	ORPHA:185
Chromosome 15Q25 Deletion Syndrome	Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia	OMIM:614294
Cleidocranial Dysplasia 1	Respiratory distress	OMIM:119600
Tropical Endomyocardial Fibrosis	Left atrial enlargement, Endocardial fibrosis, Right ventricular cardiomyopathy, Hepatomegaly, Re...	ORPHA:75565
Rabson-Mendenhall Syndrome	Macroglossia, Increased pineal volume	ORPHA:769
Norrie Disease	Optic atrophy, Abnormality of the diencephalon, Cerebral cortical atrophy, Microcephaly	ORPHA:649
Severe Generalized Junctional Epidermolysis Bullosa	Dyspnea, Respiratory distress	ORPHA:79404
Microphthalmia, Syndromic 1	Bicuspid aortic valve, Microphthalmia, Anophthalmia	OMIM:309800
Nocardiosis	Dyspnea, Respiratory distress	ORPHA:31204
Denys-Drash Syndrome	Congenital diaphragmatic hernia, Posterolateral diaphragmatic hernia, Neonatal death	OMIM:194080
Rubinstein-Taybi Syndrome 1	Respiratory distress	OMIM:180849
Oligomeganephronia	Congenital diaphragmatic hernia, Optic disc coloboma	ORPHA:2260
Autoinflammatory Disease, Systemic, With Vasculitis	Cardiomegaly, Hepatomegaly, Hepatosplenomegaly, Splenomegaly	OMIM:620376
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome	Nasal flaring	ORPHA:466943
Congenital Tracheal Stenosis	Dyspnea, Respiratory distress	ORPHA:141127
Cutis Laxa, Autosomal Recessive, Type Ib	Congenital diaphragmatic hernia, Death in childhood, Spina bifida, Microcephaly, Hypoplasia of th...	OMIM:614437
Schinzel-Giedion Syndrome	Respiratory distress	ORPHA:798
Aicardi-Goutières Syndrome	Cardiomegaly, Hepatosplenomegaly, Hypertrophic cardiomyopathy	ORPHA:51
Stüve-Wiedemann Syndrome	Apnea, Respiratory distress	ORPHA:3206
Cutis Laxa, Autosomal Recessive, Type Ia	Microcephaly, Congenital diaphragmatic hernia	OMIM:219100
Gitelman Syndrome	Respiratory distress	ORPHA:358
Coffin-Siris Syndrome 1	Congenital diaphragmatic hernia, Hypoplasia of the corpus callosum, Spina bifida occulta, Dandy-W...	OMIM:135900
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Congenital diaphragmatic hernia, Semilobar holoprosencephaly, Hypoplasia of the corpus callosum, ...	OMIM:301044
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Aprosencephaly	OMIM:601374
Liver Disease, Severe Congenital	Left atrial enlargement, Hepatomegaly, Patent foramen ovale, Dilatation of the ventricular cavity...	OMIM:619991
Tuberous Sclerosis Complex	Respiratory distress	ORPHA:805
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Congenital diaphragmatic hernia, Elbow flexion contracture	OMIM:618022
Beckwith-Wiedemann Syndrome	Enlarged kidney, Hepatomegaly, Visceromegaly, Hypertrophic cardiomyopathy, Splenomegaly, Cardiome...	ORPHA:116
8Q24.3 Microdeletion Syndrome	Respiratory distress	ORPHA:508488
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Respiratory distress	ORPHA:83617
Mullegama-Klein-Martinez Syndrome	Microcephaly, Facial palsy, Congenital diaphragmatic hernia	OMIM:301022
Proteasome-Associated Autoinflammatory Syndrome 1	Cardiomegaly, Hepatomegaly, Splenomegaly	OMIM:256040
Diaphragmatic Hernia 2	Congenital diaphragmatic hernia, Agenesis of the diaphragm	OMIM:222400
C Syndrome	Congenital diaphragmatic hernia, Death in infancy, Microcephaly, Aplasia/Hypoplasia of the abdomi...	ORPHA:1308
Poland Syndrome	Congenital diaphragmatic hernia, Aplasia of the pectoralis major muscle, Spina bifida occulta, En...	ORPHA:2911
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Respiratory distress	OMIM:617088
Doors Syndrome	Respiratory distress	ORPHA:79500
Simpson-Golabi-Behmel Syndrome, Type 1	Congenital diaphragmatic hernia, Facial hypotonia, Hydrocephalus, Diastasis recti, Agenesis of co...	OMIM:312870
Diets-Jongmans Syndrome	Congenital diaphragmatic hernia, Thick corpus callosum	OMIM:618846
Eisenmenger Syndrome	Exertional dyspnea, Respiratory distress	ORPHA:97214
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
Distal Deletion 15Q	Microcephaly, Congenital diaphragmatic hernia	ORPHA:1596
Acrorenal-Mandibular Syndrome	Congenital diaphragmatic hernia, Elbow flexion contracture	OMIM:200980
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Respiratory distress	ORPHA:480880
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Respiratory distress	ORPHA:95455
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome	Respiratory distress	OMIM:614748
Cornelia De Lange Syndrome	Cerebral cortical atrophy, Ventriculomegaly, Congenital diaphragmatic hernia, Microcephaly	ORPHA:199
Plague	Respiratory distress	ORPHA:707
Leptospirosis	Respiratory distress	ORPHA:509
Loeys-Dietz Syndrome 6	Congenital diaphragmatic hernia, Camptodactyly	OMIM:619656
Singleton-Merten Syndrome 1	Mitral valve calcification, Aortic valve stenosis, Aortic valve calcification, Cardiomegaly, Subv...	OMIM:182250
Ulbright-Hodes Syndrome	Respiratory distress	ORPHA:3404
Generalized Arterial Calcification Of Infancy	Cardiomegaly, Pericardial effusion, Ventricular hypertrophy, Myocardial calcification	ORPHA:51608
Tetraamelia Syndrome 1	Hydrocephalus, Congenital diaphragmatic hernia	OMIM:273395
Meacham Syndrome	Congenital diaphragmatic hernia	ORPHA:3097
Heart Defects, Congenital, And Other Congenital Anomalies	Microcephaly, Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia	OMIM:600001
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Congenital diaphragmatic hernia	OMIM:617641
Pallister-Killian Syndrome	Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia, Secondary microcephaly, Still...	OMIM:601803
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria	Respiratory distress	ORPHA:99646
Cardiospondylocarpofacial Syndrome	Congenital diaphragmatic hernia	OMIM:157800
Cardiac-Urogenital Syndrome	Congenital diaphragmatic hernia	OMIM:618280
Pmm2-Cdg	Respiratory distress	ORPHA:79318
Alström Syndrome	Respiratory distress	ORPHA:64

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

Gross Morphology Embryo E14.5-E15.5

X-ray

X-ray

MicroCT E14.5-E15.5

Human diseases caused by Mycbp2 mutations

Histopathology

IMPC related publications

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Access Data Release 21.0 Data