Gene Summary

Name:
MYC binding protein 2, E3 ubiquitin protein ligase
Synonyms:
Pam,  C130061D10Rik,  Phr1

IMPC Data Collections

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

Phenotype System Allele Zyg Sex Life Stage P Value
preweaning lethality, complete penetrance Mycbp2em1(IMPC)Mbp HOM   Early adult 0.00
anophthalmia Mycbp2em1(IMPC)Mbp HET Early adult 0.00
abnormal eye morphology Mycbp2em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Mycbp2em1(IMPC)Mbp HET Early adult 0.00
enlarged heart Mycbp2em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

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Viewing: all phenotypes

lacZ Expression

Expression data not available

Associated Images

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

X-ray

XRay Images Whole Body Lateral Orientation

16 Images

X-ray

XRay Images Whole Body Dorso Ventral

48 Images

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.

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 Similarity of
phenotypes
Matching phenotypes Source
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development
Hydrocephalus, Fusion of the left and right thalami, Abnormality of the anterior commissure, Midl... OMIM:617542
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Microphthalmia, Anophthalmia ORPHA:85275
Ethanolaminosis
Cardiomegaly OMIM:227150
Polymicrogyria Due To Tubb2B Mutation
Cavum septum pellucidum, Pachygyria, Abnormal caudate nucleus morphology, Hypoplasia of the corpu... ORPHA:300573
Leukoencephalopathy With Dystonia And Motor Neuropathy
Abnormality of thalamus morphology, Torticollis, Abnormal motor neuron morphology, Leukoencephalo... OMIM:613724
Coasy Protein-Associated Neurodegeneration
Abnormality of thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal caudate... ORPHA:397725
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Abnormality of the basal ganglia, Decreased thalamic volume, Hypoplasia of the olfactory bulb OMIM:618646
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Hypoplasia of the brainstem, Arthrogryposis multiplex congenita, Hypoplasia of the corpus callosu... OMIM:619072
Microphthalmia, Isolated 1
Microphthalmia, Anophthalmia OMIM:251600
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Dandy-Walker malformation, Optic nerve hypoplasia, Spina bifida occulta, Microcephaly, Agenesis o... OMIM:618736
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoplasia of the brainstem, Type II lissencephaly, Congenital muscular dystrophy, Hydrocephalus,... ORPHA:370959
Microphthalmia, Syndromic 12
Anophthalmia, Hypoplastic left atrium, Microphthalmia, Ventricular septal defect OMIM:615524
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Anophthalmia OMIM:616428
Chudley-Mccullough Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Polymicrogyria, ... OMIM:604213
Unilateral Hemispheric Polymicrogyria
Cerebral hypoplasia, Cortical dysplasia, Dilation of lateral ventricles, Thick cerebral cortex ORPHA:101071
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
T2 hypointense thalamus, Hypoplasia of the corpus callosum, Cerebral cortical atrophy, Basal gang... OMIM:618193
Hypotonia, Infantile, With Psychomotor Retardation
Hypoplasia of the corpus callosum, Myopathy, Dilation of lateral ventricles, Increased variabilit... OMIM:616816
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Ventriculomegaly, Dysplastic corpus callosum, Abnormal cerebral white matter morphology, Mild mal... ORPHA:500166
Cerebral-Cerebellar-Coloboma Syndrome, X-Linked
Hydrocephalus, Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300864
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Basal ganglia calcification, Hypomimic face, Thalamic calcification OMIM:618824
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Microphthalmia, Anophthalmia OMIM:221950
Spastic Paraplegia 45, Autosomal Recessive
Hypoplasia of the corpus callosum, Flexion contracture, Optic atrophy, Dysplastic corpus callosum OMIM:613162
Microphthalmia, Isolated, With Coloboma 5
Microphthalmia, Bilateral microphthalmos, Anophthalmia OMIM:611638
Polyrrhinia
Abnormal third ventricle morphology, Dilation of lateral ventricles ORPHA:141091
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Hypoplasia of the brainstem, Type II lissencephaly, Congenital fibrosis of extraocular muscles, T... ORPHA:300570
Lethal Congenital Contracture Syndrome 3
Neonatal death, Respiratory insufficiency OMIM:611369
Joubert Syndrome 13
Molar tooth sign on MRI, Pachygyria OMIM:614173
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Microphthalmia-Brain Atrophy Syndrome
Corpus callosum atrophy, Atrophy/Degeneration affecting the brainstem, Abnormal pons morphology, ... ORPHA:77299
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Arthrogryposis multiplex congenita, Cerebral atrophy, Pau... OMIM:611890
Combined Oxidative Phosphorylation Deficiency 51
Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Optic atrophy OMIM:619057
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Polymicrogyria With Optic Nerve Hypoplasia
Hypoplasia of the brainstem, Colpocephaly, Dysplastic corpus callosum, Polymicrogyria, Optic nerv... ORPHA:250972
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Lower limb muscle weakness, Abnormal lower motor neuron morphology, Hand mu... OMIM:607641
Septopreoptic Holoprosencephaly
Abnormality of the septum pellucidum, Abnormal midbrain morphology, Megalencephaly, Abnormal corp... ORPHA:280195
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Basal ganglia gliosis, Basal ganglia cysts, Hypoplasia of the corpus call... ORPHA:79243
Cach Syndrome
T2 hypointense thalamus, Arthrogryposis multiplex congenita, Cerebral atrophy, Flexion contractur... ORPHA:135
Neurodevelopmental Disorder And Structural Brain Anomalies With Or Without Seizures And Spasticity
Hypoplasia of the corpus callosum, Microcephaly, Dilation of lateral ventricles, Optic nerve hypo... OMIM:618890
Schizencephaly
Cerebral cortical atrophy, Agenesis of corpus callosum, Schizencephaly OMIM:269160
Tracheopathia Osteoplastica
Cough, Wheezing, Dyspnea, Recurrent pneumonia OMIM:189961
Autosomal Recessive Spastic Paraplegia Type 11
Focal T2 hyperintense basal ganglia lesion, Frontal cortical atrophy, Orthostatic hypotension, Hy... ORPHA:2822
Combined Oxidative Phosphorylation Defect Type 7
Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Abnormal cerebral whi... ORPHA:254930
Combined Oxidative Phosphorylation Defect Type 39
Congenital foot contractures, Corpus callosum atrophy, Hypoplasia of the corpus callosum, Abnorma... ORPHA:565624
Hydrolethalus Syndrome 2
Agenesis of corpus callosum, Ventriculomegaly, Anencephaly, Molar tooth sign on MRI, Hydrocephalus OMIM:614120
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Ventriculomegaly, Cerebral atroph... ORPHA:255182
Cortical Dysplasia, Complex, With Other Brain Malformations 1
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Polymicrogyria, Cortical dysplasi... OMIM:614039
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Abnormal cerebral white matter morphology, Abnormal upper motor neuron morpho... OMIM:263570
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Limb hypertonia, Cerebral atrophy, Dilation of lateral ventricles, Partial agenesis of the corpus... OMIM:617296
Familial Acute Necrotizing Encephalopathy
Abnormality of thalamus morphology, Abnormal brainstem MRI signal intensity, Abnormal brainstem m... ORPHA:88619
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Hypoplasia of the corpus callosum, Ankle flexion contracture, Cerebral white matter hypoplasia, P... ORPHA:284417
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Microphthalmia, Isolated 3
Microphthalmia, Anophthalmia OMIM:611038
Slc35A2-Cdg
Camptodactyly of finger, Cerebral white matter atrophy, Abnormal midbrain morphology, Hypoplasia ... ORPHA:356961
Orofaciodigital Syndrome Xv
Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Hemiparkinsonism-Hemiatrophy Syndrome
Cerebral cortical hemiatrophy, Dilation of lateral ventricles ORPHA:306669
Glutamine Deficiency, Congenital
Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Subependymal cysts, Neonat... OMIM:610015
Lissencephaly 3
Hypoplasia of the brainstem, Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Pol... OMIM:611603
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormality of the basal ganglia, Abnormal auditory... ORPHA:99852
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Spasticity of facial muscles OMIM:606353
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Microcephaly, Dysplastic corpus callosum, Skeletal muscle atrophy OMIM:618276
Mental Retardation, Autosomal Dominant 48
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Polymicrogyria, Microcephaly, Dilati... OMIM:617751
Malan Overgrowth Syndrome
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lat... ORPHA:420179
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
EMG: myopathic abnormalities, Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal ... ORPHA:52430
Bronchopulmonary Dysplasia
Wheezing, Hyperoxemia, Respiratory distress, Abnormal respiratory system physiology, Dyspnea, Cou... ORPHA:70589
Pontocerebellar Hypoplasia, Type 1A
Basal ganglia gliosis, Spinal muscular atrophy, Degeneration of anterior horn cells, Congenital c... OMIM:607596
Japanese Encephalitis
Abnormality of thalamus morphology, Decreased motor nerve conduction velocity, Focal T2 hyperinte... ORPHA:79139
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
Developmental And Epileptic Encephalopathy 30
Death in infancy, Respiratory distress OMIM:616341
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Abnormal muscle fiber morphology, Arthrogryposis multiple... ORPHA:1145
Congenital Hydrocephalus
Hydrocephalus, Ventriculomegaly, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy... ORPHA:2185
Pontocerebellar Hypoplasia, Type 13
Hypoplasia of the corpus callosum, Hypoplastic hippocampus, Microcephaly, Dandy-Walker malformati... OMIM:618606
Autosomal Dominant Non-Syndromic Intellectual Disability
Bilateral generalized polymicrogyria, Hypoplasia of the corpus callosum, Abnormal cerebral white ... ORPHA:178469
X-Linked Parkinsonism-Spasticity Syndrome
Dilated third ventricle, Diffuse cerebral atrophy, Dilation of lateral ventricles ORPHA:363654
Neuroferritinopathy
T2 hypointense thalamus, Abnormal caudate nucleus morphology, Hypomimic face, Abnormal thalamic M... ORPHA:157846
Leigh Syndrome With Cardiomyopathy
Abnormality of thalamus morphology, Diffuse white matter abnormalities, Basal ganglia gliosis, Ab... ORPHA:70474
Epilepsy, Pyridoxine-Dependent
Neonatal respiratory distress, Respiratory distress OMIM:266100
Bilateral Generalized Polymicrogyria
Diffuse white matter abnormalities, Hypoplasia of the corpus callosum, Hypoplastic hippocampus, A... ORPHA:208447
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Hypoplasia of the corpus callosum, Cerebral atrophy, Abnormal upper motor neuron morphology, Basa... OMIM:221770
Joubert Syndrome 31
Hypoplasia of the corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617761
Respiratory Distress Syndrome In Premature Infants
Dyspnea, Respiratory distress, Atelectasis, Neonatal respiratory distress, Tachypnea OMIM:267450
Progressive Non-Fluent Aphasia
Abnormal cerebral white matter morphology, Temporal cortical atrophy, Abnormal lower motor neuron... ORPHA:100070
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Abnormal thalamic MRI signal intensity, Right ventricula... ORPHA:444013
Fryns Microphthalmia Syndrome
Microphthalmia, Anophthalmia OMIM:600776
D-2-Hydroxyglutaric Aciduria 1
Subependymal cysts, Multifocal cerebral white matter abnormalities, Dilation of lateral ventricles OMIM:600721
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Camptodactyly of finger, Aplasia/Hypoplasia of the corpus callosum, Holoprosencephaly, Cerebral c... ORPHA:2570
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Succinic Acidemia
Respiratory distress OMIM:600335
Severe X-Linked Intellectual Disability, Gustavson Type
Dilation of lateral ventricles, Dilated fourth ventricle, Microcephaly, Contractures of the large... ORPHA:3078
Adult Krabbe Disease
Prolonged brainstem auditory evoked potentials, Abnormal midbrain morphology, Lower limb muscle w... ORPHA:206448
Laryngotracheal Angioma
Apnea, Wheezing, Respiratory distress, Cough, Intercostal retractions, Stridor ORPHA:137935
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Dilation of lateral ventricles, Cerebral cor... ORPHA:488627
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense basal ganglia lesion, Focal T2 hyperintense thalamic lesion, Abnormal cereb... ORPHA:79264
Pontocerebellar Hypoplasia Type 10
Simplified gyral pattern, Abnormal brainstem morphology, Optic atrophy, Abnormal cerebral cortex ... ORPHA:411493
Frontotemporal Dementia With Motor Neuron Disease
Degeneration of the lateral corticospinal tracts, Neuronal loss in the cerebral cortex, Abnormal ... ORPHA:275872
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Shoulder girdle muscle atrophy, Scapular winging, Temporal cortical atrophy, Frontal cortical atr... OMIM:167320
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Cerebral atrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal... OMIM:105550
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Myasthenic Syndrome, Congenital, 6, Presynaptic
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:254210
Acute Disseminated Encephalomyelitis
Abnormal brainstem MRI signal intensity, Diffuse white matter abnormalities, Hypointensity of cer... ORPHA:83597
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Pachygyria, Cerebral white matter atrophy, Abnormal caudate nucleus morphology, Hypoplasia of the... ORPHA:2148
Congenital Lobar Emphysema
Emphysema, Respiratory distress ORPHA:1928
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Wars2-Related Combined Oxidative Phosphorylation Defect
Hypoplasia of the brainstem, Abnormal periventricular white matter morphology, Ventriculomegaly, ... ORPHA:572798
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome
Abnormal brainstem MRI signal intensity, Abnormality of the basal ganglia, Small basal ganglia ORPHA:263410
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Skeletal muscle atrophy ORPHA:247604
Severe Acute Respiratory Syndrome
Dyspnea, Respiratory distress, Cough, Respiratory failure requiring assisted ventilation, Acute i... ORPHA:140896
Cog5-Cdg
Neurogenic bladder, Camptodactyly of finger, Cerebral white matter atrophy, Atrophy/Degeneration ... ORPHA:263487
Perching Syndrome
Respiratory distress OMIM:617055
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Restrictive ventilatory defect, Respiratory failure, Respiratory distress, Respiratory insufficiency OMIM:614399
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Open operculum, Absent septum pellucidum, Ventriculomegaly, Dandy-Walker malformation, Abnormal c... ORPHA:397715
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal thalamic MRI signal intensity, Decreased nerve conduction velocity, Secondary microcepha... ORPHA:485421
Linear Skin Defects With Multiple Congenital Anomalies 3
Agenesis of corpus callosum, Dilation of lateral ventricles OMIM:300952
Coach Syndrome 2
Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus OMIM:619111
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
3P25.3 Microdeletion Syndrome
Abnormality of thalamus morphology, Knee flexion contracture, Cerebral white matter atrophy, Skel... ORPHA:435638
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Laryngomalacia
Congenital laryngeal stridor, Respiratory distress OMIM:150280
Ventriculomegaly With Defects Of The Radius And Kidney
Ventriculomegaly, Hydrocephalus, Dilation of lateral ventricles OMIM:602200
Rhombencephalosynapsis
Fusion of the left and right thalami, Ventriculomegaly, Aganglionic megacolon, Septo-optic dyspla... ORPHA:59315
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal thalamic MRI signal intensity, Abnormal basa... ORPHA:363558
Recurrent Respiratory Papillomatosis
Wheezing, Dyspnea, Respiratory distress, Nonproductive cough, Respiratory insufficiency, Tracheom... ORPHA:60032
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Fusion of the left and right thal... OMIM:619306
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Spinal muscular atrophy, Abnormal lower motor neuron morphology, Scapuloperoneal amyotrophy, Dist... OMIM:611067
Meckel Syndrome, Type 8
Microphthalmia, Anophthalmia OMIM:613885
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal upper motor neuron morphology, Limb muscle weakness, Abnormal lower motor neuron morphol... OMIM:614373
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Apneic episodes precipitated by illness, fatigue, stress, Sudden episodic apnea, Respiratory dist... OMIM:605809
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers, Abnormal thalamic MRI s... ORPHA:70595
Panhypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormality of the posteri... ORPHA:95513
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Autosomal Recessive Spastic Paraplegia Type 66
Hypoplasia of the corpus callosum, Limb hypertonia, Lower limb amyotrophy, Colpocephaly ORPHA:401815
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Death in infancy, Respiratory distress OMIM:604377
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Degeneration of anterior h... OMIM:602433
Familial Nasal Acilia
Dyspnea, Respiratory distress, Bronchiectasis, Atelectasis, Chronic rhinitis, Chronic sinusitis ORPHA:922
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Abnormal upper motor neuron morphology, Cerebral cortical atrophy, Hypoplasia of the corpus callo... OMIM:607694
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Dysplastic corpus callosum, Camptodactyly, Anterior hypopituitarism, Joint contracture of the hand OMIM:601016
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Hypoplasia of the corpus callosum, Abnormal lateral ventricle morphology ORPHA:488635
Adenohypophysitis
Panhypopituitarism, Orthostatic hypotension, Pituitary hypothyroidism, Abnormal thalamic MRI sign... ORPHA:95512
Hydranencephaly
Dysgenesis of the thalamus, Abnormal corpus striatum morphology, Hypoplastic hippocampus, Ventric... ORPHA:2177
Leigh Syndrome
Abnormal brainstem MRI signal intensity, Focal T2 hyperintense basal ganglia lesion, Hypoplasia o... ORPHA:506
Spinocerebellar Ataxia Type 2
Cerebral white matter atrophy, Abnormality of the spinocerebellar tracts, Spinal cord posterior c... ORPHA:98756
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Small thenar eminence, Hypoplasia of the corpus callosum, Joint contracture of the 5th finger, Jo... OMIM:618914
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Paganini-Miozzo Syndrome
Dilation of lateral ventricles OMIM:301025
Lethal Osteosclerotic Bone Dysplasia
Respiratory failure, Dyspnea, Respiratory distress ORPHA:1832
Joubert Syndrome 7
Abnormal corpus callosum morphology, Hypoplasia of the brainstem, Molar tooth sign on MRI, Brains... OMIM:611560
Hereditary Pulmonary Alveolar Proteinosis
Restrictive ventilatory defect, Respiratory distress, Cough, Respiratory failure requiring assist... ORPHA:264675
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
T2 hypointense thalamus, Cerebral atrophy, Hyperintensity of cerebral white matter on MRI, Optic ... ORPHA:1947
X-Linked Intellectual Disability, Wilson Type
Microcephaly, Dilation of lateral ventricles ORPHA:85290
Machado-Joseph Disease Type 3
Neurogenic bladder, Spinocerebellar tract degeneration, Abnormal lower motor neuron morphology, D... ORPHA:276244
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Dysplastic corpus callosum, Hyperintensity of cerebral white matter on MRI, Thick corpus callosum... ORPHA:544488
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:205100
Mucolipidosis Iv
Cerebral dysmyelination, Microcephaly, Optic atrophy, Dysplastic corpus callosum OMIM:252650
Pleural Mesothelioma
Dyspnea, Respiratory distress, Abnormal respiratory system physiology, Pleural effusion, Cough ORPHA:50251
Oculocerebrocutaneous Syndrome
Microphthalmia, Anophthalmia OMIM:164180
Joubert Syndrome 22
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy OMIM:615665
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormality of masseter muscle, Abnormal midbrain morphology,... ORPHA:314621
Gaucher Disease Type 2
Cough, Respiratory distress, Abnormal pattern of respiration ORPHA:77260
Laryngeal Web, Familial
Stridor, Respiratory distress OMIM:150360
Central Neurocytoma
Abnormal lateral ventricle morphology, Cerebral calcification, Hydrocephalus ORPHA:73256
Combined Oxidative Phosphorylation Deficiency 12
Hypoplasia of the corpus callosum, Ragged-red muscle fibers, Dysplastic corpus callosum, Leukoenc... OMIM:614924
Interstitial Pneumonitis, Desquamative, Familial
Tachypnea, Cough, Respiratory failure, Respiratory distress OMIM:263000
Microgastria-Limb Reduction Defects Association
Porencephalic cyst, Arrhinencephaly, Fusion of the left and right thalami, Aganglionic megacolon,... OMIM:156810
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of the 4th toe, Abnorm... ORPHA:457279
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Microcephaly, Multiple joint contractures ORPHA:2959
Pontocerebellar Hypoplasia Type 2
Hypoplasia of the brainstem, Hypoplasia of the corpus callosum, Ventriculomegaly, Viral infection... ORPHA:2524
Meckel Syndrome, Type 10
Molar tooth sign on MRI, Anencephaly OMIM:614175
Cryptogenic Organizing Pneumonia
Restrictive ventilatory defect, Wheezing, Dyspnea, Respiratory distress, Cough, Nonproductive cou... ORPHA:1302
Distal Monosomy 10Q
Cavum septum pellucidum, Scapular winging, Spina bifida occulta, Microcephaly, Facial diplegia, D... ORPHA:96148
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Abnormal caudate nucleus morphology, Choroid plexus cyst, Primary microcephaly, Periventricular l... ORPHA:293725
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Aicardi Syndrome
Cavum septum pellucidum, Spina bifida, Pachygyria, Choroid plexus cyst, Polymicrogyria, Dilated t... OMIM:304050
Amoebiasis Due To Free-Living Amoebae
Abnormal brainstem MRI signal intensity, Myocardial necrosis, Abnormal hypothalamus morphology, A... ORPHA:68
Mosaic Trisomy 1
Camptodactyly of finger, Polymicrogyria, Congenital diaphragmatic hernia, Elbow flexion contractu... ORPHA:1692
Holoprosencephaly 7
Semilobar holoprosencephaly, Panhypopituitarism, Hydrocephalus, Fusion of the left and right thal... OMIM:610828
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Cerebral cortical atrophy, Lewy bodies, Dilation of lateral ventricles, Neurofibrillary tangles OMIM:607485
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Microcephaly, Dilation of lateral ventricles OMIM:619278
Tay-Sachs Disease
Hypointensity of cerebral white matter on MRI, Ventriculomegaly, Hip flexor weakness, Lower limb ... ORPHA:845
Greig Cephalopolysyndactyly Syndrome
Agenesis of corpus callosum, Hydrocephalus, Congenital diaphragmatic hernia ORPHA:380
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Flexion contracture, Dysplastic corpus callosum, Polymicrogyria, Optic nerve hypoplasia, Microcep... OMIM:614833
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypoplasia of the brainstem, Type II lissencephaly, Hydrocephalus, Ventriculomegaly, Muscular dys... OMIM:615287
Manitoba Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia OMIM:248450
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Basel-Vanagaite-Smirin-Yosef Syndrome
Cavum septum pellucidum, Hypoplasia of the corpus callosum, Cerebral atrophy, Dilated third ventr... ORPHA:464738
Chronic Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529808
Acute Bilirubin Encephalopathy
Abnormal auditory evoked potentials, Abnormal thalamic MRI signal intensity ORPHA:529799
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome
Hypoplasia of the brainstem, Hydrocephalus, Ventriculomegaly, Flexion contracture, Hydranencephal... OMIM:225790
Arnold-Chiari Malformation Type Ii
Neurogenic bladder, Hydrocephalus, Brain stem compression, Ventriculomegaly, Aqueductal stenosis,... ORPHA:1136
Congenital Laryngeal Web
Stridor, Respiratory distress ORPHA:2374
Meckel Syndrome, Type 4
Hypoplasia of the corpus callosum, Anencephaly, Meningocele, Microcephaly, Molar tooth sign on MR... OMIM:611134
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Surfactant Metabolism Dysfunction, Pulmonary, 3
Apnea, Dyspnea, Respiratory distress, Exertional dyspnea, Cough, Death in infancy, Neonatal respi... OMIM:610921
Orofaciodigital Syndrome Vi
Hypothalamic hamartoma, Molar tooth sign on MRI OMIM:277170
Leptin Receptor Deficiency
Decreased response to growth hormone stimuation test, Pituitary hypothyroidism, Abnormal hypothal... OMIM:614963
Osteopetrosis, Autosomal Recessive 7
Death in infancy, Death in childhood, Optic nerve compression, Optic atrophy, Hydrocephalus, Dila... OMIM:612301
Pulmonary Non-Tuberculous Mycobacterial Infection
Dyspnea, Respiratory distress, Bronchiectasis, Chronic pulmonary obstruction, Pleural effusion, C... ORPHA:411703
Trisomy 13
Atrial septal defect, Ventricular septal defect, Aplasia/Hypoplasia of the iris, Microphthalmia, ... ORPHA:3378
Joubert Syndrome 2
Thickened superior cerebellar peduncle, Hypoplasia of the brainstem, Brainstem dysplasia, Enlarge... OMIM:608091
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius
Flexion contracture of thumb, Agenesis of corpus callosum, Absent septum pellucidum, Corticospina... OMIM:307000
Joubert Syndrome 32
Polymicrogyria, Molar tooth sign on MRI OMIM:617757
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Ventilator dependence with inability to wean, Respiratory insufficiency, Re... ORPHA:254875
Osteopetrosis And Infantile Neuroaxonal Dystrophy
Hypoplastic hippocampus, Cerebral atrophy, Death in infancy, Agenesis of corpus callosum OMIM:600329
Amyotrophic Lateral Sclerosis 5, Juvenile
Distal amyotrophy, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Glutaric Acidemia I
Dilation of lateral ventricles OMIM:231670
Joubert Syndrome With Renal Defect
Hydrocephalus, Aganglionic megacolon, Polymicrogyria, Molar tooth sign on MRI, Agenesis of corpus... ORPHA:220497
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Cardiofaciocutaneous Syndrome 4
Hypoplasia of the corpus callosum, Optic nerve hypoplasia, Abnormal lateral ventricle morphology OMIM:615280
Neurodevelopmental Disorder With Spastic Quadriplegia, Optic Atrophy, Seizures, And Structural Brain Anomalies
Semilobar holoprosencephaly, Agenesis of corpus callosum, Ventriculomegaly, Flexion contracture, ... OMIM:618651
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Macroglossia, Abnormal periventricular white matter morphology, Hypoplasia of the corpus callosum... OMIM:616900
Aceruloplasminemia
Torticollis, Abnormal corpus striatum morphology, Abnormal thalamic MRI signal intensity ORPHA:48818
Spastic Paralysis, Infantile-Onset Ascending
Morphological abnormality of the corticospinal tract, Abnormal lower motor neuron morphology, Ach... OMIM:607225
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Ventriculomegaly, Abnormal brainstem morphology, Hydrocephalus, Dandy-Walker malformation, Abnorm... ORPHA:163961
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Cerebral cortical atrophy, Amyotrophic lateral sclerosis OMIM:615911
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Ventriculomegaly, Simplified gyral pattern, Optic atrophy, Colpoceph... OMIM:615219
Lethal Congenital Contracture Syndrome 1
Arthrogryposis multiplex congenita, Paucity of anterior horn motor neurons, Neonatal death, Hypop... OMIM:253310
Meningioma
Focal T2 hypointense thalamic lesion, Hydrocephalus, Brain stem compression, Enlarged pituitary g... ORPHA:2495
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoplastic anterior commissure, Microcephal... OMIM:616975
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Microhydranencephaly
Hypoplasia of the brainstem, Pachygyria, Ventriculomegaly, Hydranencephaly, Multiple joint contra... OMIM:605013
Alpha-1-Antitrypsin Deficiency
Chronic pulmonary obstruction, Wheezing, Dyspnea, Panacinar emphysema OMIM:613490
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Microphthalmia, Ventricular septal defect ORPHA:77298
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Kohlschutter-Tonz Syndrome-Like
Ventriculomegaly, Death in adolescence, Secondary microcephaly, Microcephaly, Dilation of lateral... OMIM:619229
Holoprosencephaly-Caudal Dysgenesis Syndrome
Holoprosencephaly, Microcephaly, Abnormality of the diencephalon ORPHA:2165
Joubert Syndrome 1
Hypoplasia of the brainstem, Macroglossia, Brainstem dysplasia, Enlarged fossa interpeduncularis,... OMIM:213300
Surfactant Metabolism Dysfunction, Pulmonary, 2
Spontaneous pneumothorax, Dyspnea, Respiratory distress, Bronchiectasis, Interstitial pneumonitis... OMIM:610913
Hereditary Cryohydrocytosis With Reduced Stomatin
Cerebral white matter hypoplasia, Intracerebral periventricular calcifications, Decreased thalami... ORPHA:168577
Congenital Disorder Of Glycosylation, Type Iu
Neonatal respiratory distress, Death in infancy, Respiratory distress OMIM:615042
Weaver Syndrome
Diastasis recti, Absent septum pellucidum, Camptodactyly, Joint contracture of the hand, Dilation... OMIM:277590
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Joubert Syndrome With Ocular Defect
Hydrocephalus, Aganglionic megacolon, Polymicrogyria, Molar tooth sign on MRI, Agenesis of corpus... ORPHA:220493
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ventilator dependence with inability to wean, Respiratory failure requiring assisted ventilation,... ORPHA:254864
Leukodystrophy, Hypomyelinating, 17
Respiratory distress OMIM:618006
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Cardiomyopathy, Familial Hypertrophic 27
Cardiomegaly OMIM:618052
Congenital Toxoplasmosis
Hepatomegaly, Microphthalmia, Cardiomegaly ORPHA:858
Combined Oxidative Phosphorylation Deficiency 33
Hepatomegaly, Left ventricular hypertrophy, Cardiomegaly, Cardiomyopathy OMIM:617713
Thyroid Lymphoma
Upper airway obstruction, Stridor, Dyspnea, Respiratory distress ORPHA:97285
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Abnormal conus terminalis morphology, Muscle hemorrhage, Thalamic hemorrhage, Abnormality of the ... ORPHA:464321
Joubert Syndrome With Oculorenal Defect
Molar tooth sign on MRI, Aganglionic megacolon, Aplasia/Hypoplasia of the corpus callosum, Hydroc... ORPHA:2318
Malaria
Respiratory distress ORPHA:673
Meconium Aspiration Syndrome
Wheezing, Respiratory distress, Atelectasis, Neonatal asphyxia, Aspiration pneumonia, Pulmonary a... ORPHA:70588
Staphylococcal Necrotizing Pneumonia
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Acute infectious pne... ORPHA:36238
Microphthalmia, Syndromic 9
Atrial septal defect, Truncus arteriosus, Single ventricle, Ventricular septal defect, Hypoplasti... OMIM:601186
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Cardiomegaly, Microphthalmia, Patent foramen ovale OMIM:618652
Weiss-Kruszka Syndrome
Colpocephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Left ventricular hypertrophy, ... OMIM:618619
Oculocerebral Hypopigmentation Syndrome, Preus Type
Abnormality of the diencephalon, Abnormal brainstem morphology, Hydrocephalus ORPHA:2720
Septooptic Dysplasia
Absent septum pellucidum, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Agenesis of corp... OMIM:182230
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Hypoplasia of the corpus callosum, Ventriculomegaly, Hypoglycosylation of alpha-dystroglycan, Pol... ORPHA:370997
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Polymicrogyria, Colpocephaly OMIM:618731
Cerebellar-Facial-Dental Syndrome
Hypoplasia of the brainstem, Abnormal midbrain morphology, Hypoplasia of the corpus callosum, Ven... ORPHA:444072
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:606070
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Fanconi Anemia, Complementation Group I
Colpocephaly, Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Agenesis of corpus ... OMIM:609053
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Acrocallosal Syndrome
Aplasia/Hypoplasia of the corpus callosum, Dandy-Walker malformation, Congenital diaphragmatic he... ORPHA:36
Congenital Pulmonary Lymphangiectasia
Chronic pulmonary obstruction, Respiratory distress, Pleural effusion, Cough, Pulmonary arterial ... ORPHA:2414
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Schisis Association
Microcephaly, Spina bifida, Anencephaly, Congenital diaphragmatic hernia ORPHA:63862
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Acute Lung Injury
Dyspnea, Respiratory distress, Pneumonia, Respiratory failure, Tachypnea, Hypoxemia ORPHA:178320
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Gangliocytoma
Abnormality of the pituitary gland, Elevated circulating growth hormone concentration, Pituitary ... ORPHA:251937
Attrv30M Amyloidosis
Cardiomegaly, Cardiomyopathy ORPHA:85447
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Congenital diaphragmatic hernia ORPHA:438134
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Bronchiectasis, Ciliary dyskinesia, Immotile cilia, Sinusitis OMIM:606763
Craniopharyngioma
Abnormal hypothalamus morphology, Enlarged pituitary gland, Papilledema, Pituitary hypothyroidism... ORPHA:54595
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia
Limb muscle weakness, Lewy bodies, Amyotrophic lateral sclerosis OMIM:619133
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Lower limb muscle weakness, Abnormal lower motor neuron morphology ORPHA:2590
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:206900
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Degeneration of anterior horn cells, Amyotrophi... OMIM:105400
Neurodegeneration With Brain Iron Accumulation 4
Scapular winging, Abnormal lower motor neuron morphology, Lewy bodies, Distal amyotrophy, Optic a... OMIM:614298
Microphthalmia With Limb Anomalies
Microphthalmia, Anophthalmia OMIM:206920
Gómez-López-Hernández Syndrome
Abnormal brainstem morphology, Hydrocephalus ORPHA:1532
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Anaplastic Thyroid Carcinoma
Dyspnea, Respiratory distress, Cough, Upper airway obstruction, Stridor ORPHA:142
Idiopathic Neonatal Atrial Flutter
Tachypnea, Respiratory distress ORPHA:45452
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome
Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Cerebral atrophy, Leu... ORPHA:83629
Oculotrichoanal Syndrome
Microphthalmia, Anophthalmia ORPHA:2717
Joubert Syndrome 30
Ventriculomegaly, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:617622
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Ane Syndrome
Pituitary hypothyroidism, Anterior pituitary hypoplasia, Generalized amyotrophy, Motor neuron atr... ORPHA:157954
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Abnormal posturing OMIM:614857
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Restrictive ventilatory defect, Wheezing, Respiratory distress, Oxygen desaturation on exertion, ... OMIM:610978
Trisomy 1Q
Anophthalmia, Ventricular septal defect ORPHA:261344
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Cerebral cortical atrophy, Microcephaly, Congenital diaphragmatic hernia ORPHA:1166
Solitary Median Maxillary Central Incisor
Microphthalmia, Anophthalmia OMIM:147250
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Anencephaly, Polymicrogyria, Congenital diaphragmatic hernia, Molar tooth sign on MRI, Hydrocephalus OMIM:616546
Hydrolethalus
Microphthalmia, Anophthalmia ORPHA:2189
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Microphthalmia, Anophthalmia OMIM:615877
Familial Atrial Myxoma
Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma, Bacterial endocarditis ORPHA:615
Congenital Diaphragmatic Hernia
Hypoxemia, Respiratory distress ORPHA:2140
Prader-Willi Syndrome Due To Translocation
Anterior pituitary hypoplasia, Cerebral cortical atrophy, Microcephaly, Dilation of lateral ventr... ORPHA:177907
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Nipah Virus Disease
Cough, Respiratory distress ORPHA:99825
Joubert Syndrome 28
Molar tooth sign on MRI, Optic disc pallor OMIM:617121
Cardiomyopathy, Familial Hypertrophic, 4
Ventricular hypertrophy, Pericardial effusion, Hepatomegaly, Cardiomegaly, Ventricular septal hyp... OMIM:115197
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Cardiomegaly, Dilated cardiomyopathy, Hypertrophic card... OMIM:300257
Microphthalmia With Brain And Digit Anomalies
Microphthalmia, Anophthalmia ORPHA:139471
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Congenital Disorder Of Glycosylation, Type Ix
Death in childhood, Respiratory distress OMIM:615597
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Microphthalmia, Anophthalmia OMIM:610125
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Dyspnea, Death in infancy, Neonatal respiratory distress, Neonatal death, Respiratory fail... OMIM:265120
Chromosome 1Q41-Q42 Deletion Syndrome
Holoprosencephaly, Microcephaly, Congenital diaphragmatic hernia OMIM:612530
Infant Acute Respiratory Distress Syndrome
Pneumonia, Atelectasis, Nasal flaring, Respiratory failure, Tachypnea, Hypoxemia ORPHA:70587
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Cough, Dyspnea, Respiratory distress ORPHA:86812
Congenital Tricuspid Valve Dysplasia
Anomalous pulmonary venous return, Abnormal tricuspid valve leaflet morphology, Pericardial effus... ORPHA:555874
Joubert Syndrome 4
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Elongated superior cerebellar pe... OMIM:609583
Choreoacanthocytosis
Decreased amplitude of sensory action potentials, Peroneal muscle atrophy, Frontal cortical atrop... ORPHA:2388
Avian Influenza
Dyspnea, Respiratory distress, Pleural effusion, Cough, Nonproductive cough, Pneumonia, Productiv... ORPHA:454836
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Joubert Syndrome 3
Molar tooth sign on MRI, Enlarged fossa interpeduncularis, Elongated superior cerebellar peduncle OMIM:608629
Joubert Syndrome 9
Ventriculomegaly, Molar tooth sign on MRI OMIM:612285
Odontochondrodysplasia
Death in infancy, Respiratory distress ORPHA:166272
Matthew-Wood Syndrome
Microphthalmia, Anophthalmia ORPHA:2470
Timothy Syndrome
Patent foramen ovale, Tetralogy of Fallot, Cardiomegaly, Ventricular septal defect OMIM:601005
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Joubert Syndrome 18
Camptodactyly, Molar tooth sign on MRI OMIM:614815
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Hepatomegaly, Dilated cardiomyopathy, Cardiomegaly OMIM:600649
Spinocerebellar Ataxia, X-Linked 3
Episodic hypoventilation, Episodic respiratory distress, Death in infancy, Head titubation OMIM:301790
Meckel Syndrome 13
Molar tooth sign on MRI, Flexion contracture OMIM:617562
Carnitine Deficiency, Systemic Primary
Hepatomegaly, Endocardial fibroelastosis, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:212140
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Amyotrophic Lateral Sclerosis 20
Muscular dystrophy, Muscle fiber inclusion bodies, Rimmed vacuoles, Amyotrophic lateral sclerosis OMIM:615426
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Hypoglossia With Situs Inversus
Upper airway obstruction, Respiratory distress OMIM:612776
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8
Neurofibrillary tangles, Amyotrophic lateral sclerosis OMIM:619132
Classic Pantothenate Kinase-Associated Neurodegeneration
Cough, Aspiration pneumonia, Abnormal posturing ORPHA:216866
Joubert Syndrome 16
Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Proximal 16P11.2 Microduplication Syndrome
Microcephaly, Abnormal basal ganglia MRI signal intensity, Congenital diaphragmatic hernia ORPHA:370079
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2759
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Brown-Vialetto-Van Laere Syndrome 1
Dyspnea, Respiratory distress, Respiratory insufficiency, Stridor, Nocturnal hypoventilation OMIM:211530
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612577
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Microcephaly 26, Primary, Autosomal Dominant
Pachygyria, Hypoplasia of the corpus callosum, Ventriculomegaly, Dysplastic corpus callosum, Simp... OMIM:619179
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Progressive ventriculomegaly, Hypoplasia of the corpus callosum, Abnormal cerebral white matter m... ORPHA:500150
Slc35A1-Cdg
Hypoxemia, Respiratory distress, Pneumonia ORPHA:238459
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Pachygyria, Dilation of lateral ventricles OMIM:263520
Mulibrey Nanism
Hepatomegaly, Pericardial constriction, Myocardial fibrosis, Cardiomegaly OMIM:253250
Multiple Carboxylase Deficiency
Tachypnea, Respiratory distress ORPHA:148
Oculocerebrocutaneous Syndrome
Aplasia/Hypoplasia of the corpus callosum, Ventriculomegaly, Polymicrogyria, Congenital diaphragm... ORPHA:1647
Walker-Warburg Syndrome
Microphthalmia, Anophthalmia ORPHA:899
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Linear Skin Defects With Multiple Congenital Anomalies 1
Colpocephaly, Hydrocephalus, Absent septum pellucidum, Congenital diaphragmatic hernia, Microceph... OMIM:309801
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Agenesis of corpus callosum, Interhypothalamic Adhesion OMIM:618929
Choanal Atresia
Respiratory distress, Abnormal nasal mucus secretion, Tracheomalacia, Upper airway obstruction, C... ORPHA:137914
Craniofrontonasal Dysplasia
Hypoplasia of the corpus callosum, Microcephaly, Camptodactyly of finger, Congenital diaphragmati... ORPHA:1520
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Fibular Hemimelia
Anophthalmia, Abnormal heart morphology ORPHA:93323
Donnai-Barrow Syndrome
Aplasia/Hypoplasia of the corpus callosum, Congenital diaphragmatic hernia ORPHA:2143
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Amyotrophic Lateral Sclerosis 9
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Tularemia
Pleural effusion, Cough, Pneumonia, Respiratory distress ORPHA:3392
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death OMIM:618810
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Aniridia, Tricuspid valve prolapse, Anophthalmia ORPHA:1101
Emanuel Syndrome
Hydrocephalus, Ventriculomegaly, Abnormal cerebral white matter morphology, Cerebral atrophy, Mul... ORPHA:96170
Cebalid Syndrome
Polymicrogyria, Congenital diaphragmatic hernia OMIM:618774
Ethylmalonic Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI signal intensity ORPHA:51188
Mitochondrial Membrane Protein-Associated Neurodegeneration
Abnormal globus pallidus morphology, Optic atrophy, Abnormal substantia nigra morphology ORPHA:289560
Acquired Methemoglobinemia
Hypoxemia, Dyspnea, Respiratory distress ORPHA:464453
Autosomal Recessive Cutis Laxa Type 2A
Pachygyria, Thick cerebral cortex, Primary microcephaly, Dysplastic corpus callosum, Dilated four... ORPHA:357058
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Respiratory insufficiency, Exertional dyspnea OMIM:614370
Spinocerebellar Ataxia Type 1
Abnormal nerve conduction velocity, Abnormality of masticatory muscle, Abnormal brainstem morphol... ORPHA:98755
Familial Cerebral Saccular Aneurysm
Encephalomalacia, Abnormal brainstem morphology ORPHA:231160
16Q24.3 Microdeletion Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Optic nerve hypoplasia, Colpocephaly ORPHA:261250
Mucopolysaccharidosis, Type Iiib
Hepatomegaly, Asymmetric septal hypertrophy, Cardiomegaly, Splenomegaly OMIM:252920
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:613954
Aorta Coarctation
Abnormal left ventricular outflow tract morphology, Aortic valve atresia, Perimembranous ventricu... ORPHA:1457
Stt3B-Cdg
Respiratory distress ORPHA:370924
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hypoplasia of the brainstem, Pachygyria, Type II lissencephaly, Hydrocephalus, Hypoplasia of the ... OMIM:236670
Neuraminidase Deficiency
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:256550
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Donnai-Barrow Syndrome
Diaphragmatic eventration, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the corpus call... OMIM:222448
Chromosome 1P36 Deletion Syndrome
Camptodactyly of finger, Pachygyria, Hydrocephalus, Hypoplasia of the corpus callosum, Camptodact... OMIM:607872
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Emanuel Syndrome
Hypoplasia of the corpus callosum, Abnormal cerebral white matter morphology, Cerebral atrophy, C... OMIM:609029
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Amyotrophic lateral sclerosis OMIM:619141
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Joubert Syndrome 35
Molar tooth sign on MRI, Elongated superior cerebellar peduncle OMIM:618161
Spondyloenchondrodysplasia
Abnormal periventricular white matter morphology, Ventriculomegaly, Cerebral calcification, Abnor... ORPHA:1855
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Congenital Disorder Of Glycosylation, Type Iim
Hypoplasia of the corpus callosum, Cerebral atrophy, Microcephaly, Dilation of lateral ventricles OMIM:300896
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Cardiomegaly, Hypertrophic cardiomyopathy OMIM:619051
Craniorachischisis
Cervical spina bifida, Spinal dysraphism, Anencephaly, Congenital diaphragmatic hernia, Myelomeni... ORPHA:63260
Pulmonary Hypertension, Primary, 3
Pulmonary arterial hypertension, Increased pulmonary vascular resistance, Dyspnea, Elevated pulmo... OMIM:615343
Cantu Syndrome
Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly, Bicuspid aortic valve OMIM:239850
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Agnathia-Otocephaly Complex
Respiratory distress, Tracheomalacia OMIM:202650
Holoprosencephaly 13, X-Linked
Semilobar holoprosencephaly, Agenesis of corpus callosum, Alobar holoprosencephaly, Optic nerve h... OMIM:301043
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Polymicrogyria, Pachygyria ORPHA:2328
Mercury Poisoning
Dyspnea, Respiratory failure, Respiratory distress, Interstitial pneumonitis ORPHA:330021
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia ORPHA:90321
Tonne-Kalscheuer Syndrome
Microcephaly, Congenital diaphragmatic hernia OMIM:300978
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract, Skeletal muscle ... OMIM:608627
Distal 7Q11.23 Microduplication Syndrome
Hydrocephalus, Congenital diaphragmatic hernia ORPHA:261102
Orofaciodigital Syndrome Type 6
Hypothalamic hamartoma, Molar tooth sign on MRI, Aplasia/Hypoplasia of the corpus callosum ORPHA:2754
Holocarboxylase Synthetase Deficiency
Tachypnea, Respiratory distress ORPHA:79242
Orofaciodigital Syndrome Type 14
Hypoplasia of the corpus callosum, Dilated fourth ventricle, Dilated third ventricle, Molar tooth... ORPHA:434179
Hemochromatosis, Type 1
Hepatomegaly, Cardiomegaly, Cardiomyopathy, Splenomegaly OMIM:235200
Inhalational Anthrax
Dyspnea, Respiratory distress ORPHA:247257
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Gonadotropin deficiency, Abnormal midbrain morphology, Abnormal autonomic nervous system physiolo... ORPHA:293987
Fructose-1,6-Bisphosphatase Deficiency
Dyspnea, Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Intermittent hyper... ORPHA:348
Holoprosencephaly
Ventricular septal defect, Abnormal pulmonary valve morphology, Microphthalmia, Anophthalmia, Tet... ORPHA:2162
Hemifacial Microsomia
Tetralogy of Fallot, Anophthalmia, Microphthalmia, Ventricular septal defect OMIM:164210
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Odontochondrodysplasia 1
Death in infancy, Respiratory distress OMIM:184260
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Gaucher Disease, Type Iiic
Mitral valve calcification, Hepatomegaly, Cardiomegaly, Mitral stenosis, Splenomegaly, Aortic val... OMIM:231005
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology, Generalized amyotrophy, Lower limb muscle weakness OMIM:601162
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Mullegama-Klein-Martinez Syndrome
Microcephaly, Congenital diaphragmatic hernia OMIM:301022
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Apnea, Hypoventilation, Respiratory distress, Aspiration pneumonia, Recurrent pneumonia ORPHA:314655
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities
Microcephaly, Focal polymicrogyria, Dysplastic corpus callosum, Partial agenesis of the corpus ca... OMIM:619103
Joubert Syndrome 6
Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Enlarged fossa interpeduncularis... OMIM:610688
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Hypoplasia of the corpus callosum, Camptodactyly, Flexion contracture, Aganglionic megacolon, Cer... ORPHA:261552
Synaptic Congenital Myasthenic Syndromes
Sleep apnea, Hypoventilation, Respiratory distress, Exertional dyspnea, Respiratory insufficiency... ORPHA:98915
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Iniencephaly
Spina bifida, Arthrogryposis multiplex congenita, Hydrocephalus, Holoprosencephaly, Spinal dysrap... ORPHA:63259
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Refsum Disease, Classic
Cardiomegaly, Cardiomyopathy OMIM:266500
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory failure, Respiratory distress OMIM:617895
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy ORPHA:79279
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly
Hypoplasia of the corpus callosum, Microcephaly, Dysplastic corpus callosum, Intrinsic hand muscl... OMIM:618569
Xp22.13P22.2 Duplication Syndrome
Microcephaly, Congenital diaphragmatic hernia ORPHA:284180
Cryptosporidiosis
Wheezing, Respiratory distress, Cough, Respiratory failure, Hypoxemia ORPHA:1549
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing OMIM:128100
Cerebrofacioarticular Syndrome
Hypoplasia of the corpus callosum, Ventriculomegaly, Camptodactyly, Dysplastic corpus callosum, M... ORPHA:314679
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Dysplastic corpus callosum, Ventriculomegaly, Camptodactyly ORPHA:363444
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Aortic valve stenosis, Cardiomegaly, Abnormal atrioventricular valve morph... ORPHA:324410
Oculocerebrofacial Syndrome, Kaufman Type
Dyspnea, Respiratory failure, Respiratory distress ORPHA:2707
15Q24 Microdeletion Syndrome
Microcephaly, Myelomeningocele, Congenital diaphragmatic hernia, Decreased response to growth hor... ORPHA:94065
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Intellectual Disability-Strabismus Syndrome
Congenital finger flexion contractures, Hypoplasia of the corpus callosum, Achilles tendon contra... ORPHA:363528
Juvenile Amyotrophic Lateral Sclerosis
Contractures of the joints of the lower limbs, Amyotrophic lateral sclerosis, Distal amyotrophy, ... ORPHA:300605
Microgastria-Limb Reduction Defect Syndrome
Atrial septal defect, Truncus arteriosus, Hepatomegaly, Microphthalmia, Anophthalmia ORPHA:2538
Lowry-Maclean Syndrome
Microcephaly, Aplasia/Hypoplasia of the corpus callosum, Hydrocephalus, Congenital diaphragmatic ... ORPHA:2409
Thakker-Donnai Syndrome
Communicating hydrocephalus, Agenesis of corpus callosum, Congenital diaphragmatic hernia ORPHA:1780
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Microphthalmia With Linear Skin Defects Syndrome
Microphthalmia, Tricuspid valve prolapse, Anophthalmia, Dilated cardiomyopathy, Mitral valve prol... ORPHA:2556
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Multiple Acyl-Coa Dehydrogenase Deficiency
Neonatal death, Respiratory distress OMIM:231680
Fryns Syndrome
Ventriculomegaly, Aganglionic megacolon, Cerebral cortical atrophy, Congenital diaphragmatic hern... ORPHA:2059
Gillessen-Kaesbach-Nishimura Syndrome
Microcephaly, Flexion contracture, Congenital diaphragmatic hernia OMIM:263210
Tetanus
Tachypnea, Respiratory distress ORPHA:3299
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Heterotaxy, Visceral, 1, X-Linked
Atrial septal defect, Single ventricle, Ventricular septal defect, Mitral atresia, Dextrocardia, ... OMIM:306955
47,Xyy Syndrome
Increased circulating gonadotropin level, Abnormal brainstem morphology, Hydrocephalus ORPHA:8
White-Sutton Syndrome
Facial hypotonia, Hypoplasia of the corpus callosum, Subcortical cerebral atrophy, Cerebral corti... ORPHA:468678
Mowat-Wilson Syndrome Due To Monosomy 2Q22