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
enlarged heart Mycbp2em1(IMPC)Mbp HET Early adult 0.00
anophthalmia Mycbp2em1(IMPC)Mbp HET Early adult 0.00
abnormal heart morphology Mycbp2em1(IMPC)Mbp HET Early adult 0.00
preweaning lethality, complete penetrance Mycbp2em1(IMPC)Mbp HOM   Early adult 0.00
abnormal eye morphology Mycbp2em1(IMPC)Mbp HET Early adult 0.00

Download data as:  TSV  XLS

Select physiological systems to view:
Viewing: all phenotypes
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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

MicroCT E14.5-E15.5

Embryo reconstruction

8 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, Hypoplasia of the pons, Fusion of the left and right thalami, Abnormality of the a... OMIM:617542
Ethanolaminosis
Cardiomegaly OMIM:227150
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Cavum septum pellucidum, Microcephaly, Cortical dysplasia, Hypoplasia... ORPHA:300573
Leukoencephalopathy With Dystonia And Motor Neuropathy
Torticollis, Abnormality of thalamus morphology, Leukoencephalopathy, Abnormal motor neuron morph... OMIM:613724
Congenital Muscular Dystrophy With Cerebellar Involvement
Reduced muscle fiber alpha dystroglycan, Hydrocephalus, Hypoglycosylation of alpha-dystroglycan, ... ORPHA:370959
Coasy Protein-Associated Neurodegeneration
Abnormal corpus striatum morphology, Abnormal caudate nucleus morphology, Abnormality of thalamus... ORPHA:397725
Neurodevelopmental Disorder With Seizures And Brain Atrophy
Decreased thalamic volume, Cerebral cortical atrophy, Microcephaly, Hypoplasia of the corpus call... OMIM:619072
Microphthalmia, Syndromic 12
Ventricular septal defect, Anophthalmia, Hypoplastic left atrium, Microphthalmia OMIM:615524
Microphthalmia, Isolated, With Coloboma 10
Anophthalmia, Microphthalmia OMIM:616428
Emphysema, Congenital Lobar
Respiratory distress OMIM:130710
Lethal Congenital Contracture Syndrome 3
Respiratory insufficiency, Neonatal death OMIM:611369
Dextrocardia With Unusual Facies And Microphthalmia
Dextrocardia, Anophthalmia, Microphthalmia OMIM:221950
Microphthalmia, Isolated, With Coloboma 5
Anophthalmia, Bilateral microphthalmos, Microphthalmia OMIM:611638
Hypomyelination Neuropathy-Arthrogryposis Syndrome
Respiratory distress ORPHA:2680
Muscular Hypertonia, Lethal
Respiratory distress, Death in infancy, Pneumonia OMIM:254120
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Torticollis, Abnormal basal ganglia morphology, Small basal ganglia, Normal pressure hydrocephalu... ORPHA:300570
Granulomas, Congenital Cerebral
Neonatal death OMIM:306300
Genitourinary Tract Anomalies
Neonatal death OMIM:305690
Cach Syndrome
Abnormal pons morphology, Dysgyria, Cerebral atrophy, Flexion contracture, Microcephaly, T2 hypoi... ORPHA:135
Tracheopathia Osteoplastica
Dyspnea, Wheezing, Recurrent pneumonia, Cough OMIM:189961
Neuronopathy, Distal Hereditary Motor, Type Viib
Hand muscle weakness, Hand muscle atrophy, Lower limb muscle weakness, Distal amyotrophy, Abnorma... OMIM:607641
Autosomal Recessive Spastic Paraplegia Type 11
Cerebral cortical atrophy, Frontal cortical atrophy, Orthostatic hypotension, Hypoplasia of the c... ORPHA:2822
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
Leukoencephalopathy, Cerebral cortical atrophy, Basal ganglia calcification, T2 hypointense thala... OMIM:618193
Chudley-Mccullough Syndrome
Hydrocephalus, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Polymicrogyria, Par... OMIM:604213
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive
Hypomimic face, Thalamic calcification, Basal ganglia calcification OMIM:618824
Cardiomyopathy, Dilated, 1I
Dilated cardiomyopathy, Cardiomegaly OMIM:604765
Combined Oxidative Phosphorylation Deficiency 51
Focal T2 hyperintense thalamic lesion, Optic atrophy, Cerebral atrophy OMIM:619057
Septopreoptic Holoprosencephaly
Perisylvian polymicrogyria, Microcephaly, Hypoplasia of the pons, Abnormal septum pellucidum morp... ORPHA:280195
Spastic Paraplegia 45, Autosomal Recessive
Optic atrophy, Dysplastic corpus callosum, Flexion contracture, Hypoplasia of the corpus callosum OMIM:613162
Microphthalmia-Brain Atrophy Syndrome
Abnormal pons morphology, Microcephaly, Corpus callosum atrophy, Atrophy/Degeneration affecting t... ORPHA:77299
Slc35A2-Cdg
Cerebral atrophy, Microcephaly, Camptodactyly of finger, Cortical dysplasia, Hypoplasia of the co... ORPHA:356961
Unilateral Hemispheric Polymicrogyria
Lateral ventricle dilatation, Cortical dysplasia, Thick cerebral cortex, Cerebral hypoplasia ORPHA:101071
Microphthalmia, Isolated 3
Anophthalmia, Microphthalmia OMIM:611038
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Cerebral atrophy, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Molar tooth sig... ORPHA:166024
Combined Oxidative Phosphorylation Defect Type 39
Decreased nerve conduction velocity, Cerebral atrophy, Congenital foot contractures, Microcephaly... ORPHA:565624
Oculocerebrodental Syndrome
Abnormality of thalamus morphology, Dysplastic corpus callosum, Focal white matter lesions ORPHA:557003
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation
Abnormal cerebral white matter morphology, Dysplastic corpus callosum, Ventriculomegaly, Mild mal... ORPHA:500166
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Aspiration pneumonia, Upper airway obstruction ORPHA:141152
X-Linked Parkinsonism-Spasticity Syndrome
Diffuse cerebral atrophy, Lateral ventricle dilatation, Dilated third ventricle ORPHA:363654
Pyruvate Dehydrogenase E1-Alpha Deficiency
Basal ganglia necrosis, Cerebral atrophy, Flexion contracture, Basal ganglia cysts, Microcephaly,... ORPHA:79243
Polymicrogyria With Optic Nerve Hypoplasia
Dysplastic corpus callosum, Optic nerve hypoplasia, Polymicrogyria, Colpocephaly, Agenesis of cor... ORPHA:250972
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2
Decreased thalamic volume OMIM:618646
Lissencephaly 4
Lissencephaly, Primary microcephaly, Simplified gyral pattern, Colpocephaly, Agenesis of corpus c... OMIM:614019
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Abnormal brainstem MRI signal intensity, Hypoplasia of the corpus callosum, Lowe... ORPHA:254930
Congenital Arthrogryposis With Anterior Horn Cell Disease
Facial diplegia, Cerebral atrophy, Paucity of anterior horn motor neurons, Microcephaly, Neonatal... OMIM:611890
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type
Miscarriage, Cerebral atrophy, T2 hypointense thalamus, Optic disc pallor, Hyperintensity of cere... ORPHA:1947
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Segmental spinal muscular atrophy, Abnormal anterior horn cell morphology OMIM:183020
Developmental And Epileptic Encephalopathy 30
Respiratory distress, Death in infancy OMIM:616341
Alg2-Cdg
Abnormal basal ganglia MRI signal intensity, Microcephaly, Hypoplasia of the corpus callosum, Lat... ORPHA:79326
Familial Acute Necrotizing Encephalopathy
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology, Abnormality of thalamus m... ORPHA:88619
Polyrrhinia
Lateral ventricle dilatation, Abnormal third ventricle morphology ORPHA:141091
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the pons, Type 1 muscle fiber predominanc... OMIM:618276
Malan Overgrowth Syndrome
Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Optic disc pallor, Ventriculomeg... ORPHA:420179
Japanese Encephalitis
Focal T2 hyperintense thalamic lesion, Abnormal pons morphology, Hyperintensity of MRI T2 signal ... ORPHA:79139
Stuve-Wiedemann Syndrome 2
Respiratory distress, Death in adolescence, Neonatal death, Pulmonary arterial hypertension, Stil... OMIM:619751
Bronchopulmonary Dysplasia
Respiratory distress, Hyperoxemia, Abnormal respiratory system physiology, Chronic lung disease, ... ORPHA:70589
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Hypoplasia of the corpus callosum, Lateral ventricle dilatation, Lisse... ORPHA:284417
Laryngotracheal Angioma
Respiratory distress, Apnea, Wheezing, Cough, Intercostal retractions, Stridor ORPHA:137935
Fryns Microphthalmia Syndrome
Anophthalmia, Microphthalmia OMIM:600776
Leigh Syndrome With Cardiomyopathy
Basal ganglia gliosis, Abnormal caudate nucleus morphology, Abnormal brainstem morphology, Optic ... ORPHA:70474
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Succinic Acidemia
Respiratory distress OMIM:600335
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Elongated superior cerebellar peduncle, Abnormal basal ganglia morphology, Open operculum, Dilate... ORPHA:397715
Orofaciodigital Syndrome Xv
Agenesis of corpus callosum, Ventriculomegaly, Molar tooth sign on MRI OMIM:617127
Immunodeficiency 95
Respiratory distress, Recurrent viral pneumonia, Respiratory failure OMIM:619773
Pyruvate Dehydrogenase E3-Binding Protein Deficiency
Abnormal basal ganglia morphology, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callo... ORPHA:255182
Hydrolethalus Syndrome 2
Hydrocephalus, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome
Respiratory distress ORPHA:171703
Neuroferritinopathy
Abnormal basal ganglia morphology, Iron accumulation in substantia nigra, Abnormal caudate nucleu... ORPHA:157846
Microphthalmia, Isolated 8
Optic nerve hypoplasia, Anophthalmia, True anophthalmia, Microphthalmia OMIM:615113
Severe X-Linked Intellectual Disability, Gustavson Type
Microcephaly, Dilated fourth ventricle, Optic atrophy, Lateral ventricle dilatation, Contractures... ORPHA:3078
Hereditary Liability to Pressure Palsies (HNPP)
Motor conduction block, Abnormal motor neuron morphology DECIPHER:31
Severe Acute Respiratory Syndrome
Respiratory distress, Chronic lung disease, Acute infectious pneumonia, Respiratory failure requi... ORPHA:140896
Hemiparkinsonism-Hemiatrophy Syndrome
Lateral ventricle dilatation, Cerebral cortical hemiatrophy ORPHA:306669
Combined Oxidative Phosphorylation Defect Type 23
Abnormal brainstem MRI signal intensity, Right ventricular hypertrophy, Abnormal basal ganglia MR... ORPHA:444013
Congenital Lobar Emphysema
Respiratory distress, Emphysema ORPHA:1928
Joubert Syndrome 13
Pachygyria, Molar tooth sign on MRI OMIM:614173
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Abnormal upper motor neuron morphology ORPHA:247604
Congenital Hydrocephalus
Hydrocephalus, Small cerebral cortex, Abnormal cortical gyration, Optic atrophy, Lissencephaly, V... ORPHA:2185
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Multifocal cerebral white matter abnormalities, Dysplastic corpus callosum, Cerebral cortical atr... ORPHA:488627
Perching Syndrome
Respiratory distress OMIM:617055
Autosomal Dominant Non-Syndromic Intellectual Disability
Leukoencephalopathy, Cerebral atrophy, Microcephaly, Hypoplasia of the corpus callosum, Lateral v... ORPHA:178469
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Myasthenic Syndrome, Congenital, 6, Presynaptic
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:254210
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 4
Joint contracture of the hand, Spinal muscular atrophy, Abnormal lower motor neuron morphology, D... OMIM:611067
Laryngomalacia
Respiratory distress, Congenital laryngeal stridor OMIM:150280
Juvenile Neuronal Ceroid Lipofuscinosis
Focal T2 hyperintense thalamic lesion, Cerebral atrophy, Focal T2 hyperintense basal ganglia lesi... ORPHA:79264
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Cranial nerve compression, EMG: myopathic abnormalities, Rimmed va... ORPHA:52430
Wars2-Related Combined Oxidative Phosphorylation Defect
Leukoencephalopathy, Cerebral atrophy, Limb hypertonia, Dilated fourth ventricle, Lateral ventric... ORPHA:572798
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Thick corpus callosum, Dysplastic corpus callosum, Dilated third ventricle, Lateral ventricle dil... ORPHA:544488
Cog5-Cdg
Joint contracture of the hand, Microcephaly, Camptodactyly of finger, Atrophy/Degeneration affect... ORPHA:263487
Amyotrophic Lateral Sclerosis 5, Juvenile
Amyotrophic lateral sclerosis, Distal amyotrophy, Abnormal lower motor neuron morphology, Abnorma... OMIM:602099
Acute Disseminated Encephalomyelitis
Abnormal basal ganglia morphology, Abnormal brainstem MRI signal intensity, Myelitis, Abnormal th... ORPHA:83597
Anencephaly 2
Anophthalmia OMIM:619452
Amyotrophic Lateral Sclerosis 16, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... OMIM:614373
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Flexion contracture, Fusion of the left and right thalami, Dilated fourth ventricle, Hypoplasia o... OMIM:619306
Meckel Syndrome, Type 8
Anophthalmia, Microphthalmia OMIM:613885
Lissencephaly Type 1 Due To Doublecortin Gene Mutation
Flexion contracture, Abnormal caudate nucleus morphology, Hypoplasia of the corpus callosum, Cere... ORPHA:2148
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Abnormal muscle fiber morphology, Weakness of facial musculature, Degeneration o... ORPHA:1145
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... OMIM:605809
Bilateral Generalized Polymicrogyria
Lateral ventricle dilatation, Microcephaly, Diffuse white matter abnormalities, Hypoplasia of the... ORPHA:208447
Leigh Syndrome
Multiple joint contractures, Abnormal brainstem MRI signal intensity, Abnormal basal ganglia MRI ... ORPHA:506
3P25.3 Microdeletion Syndrome
Cerebral white matter atrophy, Abnormality of thalamus morphology, Skeletal muscle atrophy, Knee ... ORPHA:435638
Recurrent Respiratory Papillomatosis
Respiratory distress, Tracheomalacia, Nonproductive cough, Respiratory insufficiency, Wheezing, T... ORPHA:60032
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Death in infancy OMIM:604377
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Crackles, Acute infectious pneumonia, Respiratory failure requiring assiste... ORPHA:264675
Rhombencephalosynapsis
Hydrocephalus, Fusion of the left and right thalami, Septo-optic dysplasia, Ventriculomegaly, Aga... ORPHA:59315
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress OMIM:619099
Bronchiolitis Obliterans With Obstructive Pulmonary Disease
Reduced forced expiratory volume in one second, Reduced FEV1/FVC ratio, Airway obstruction, Nonpr... ORPHA:1303
Midline Malformations, Multiple, With Limb Abnormalities And Hypopituitarism
Joint contracture of the hand, Dysplastic corpus callosum, Anterior hypopituitarism, Camptodactyly OMIM:601016
New-Onset Refractory Status Epilepticus
Focal T2 hyperintense basal ganglia lesion, Abnormal basal ganglia MRI signal intensity, Abnormal... ORPHA:363558
Combined Oxidative Phosphorylation Deficiency 19
Respiratory distress OMIM:615595
Primary Lateral Sclerosis, Juvenile
Cerebral cortical atrophy, Abnormal upper motor neuron morphology, Spasticity of facial muscles OMIM:606353
Duplication Of The Pituitary Gland
Abnormality of the pituitary gland, Abnormal hypothalamus morphology, Microcephaly, Abnormal midb... ORPHA:314621
Cardiomyopathy, Dilated, 1Gg
Respiratory distress OMIM:613642
Chronic Pneumonitis Of Infancy
Respiratory distress, Reduced forced vital capacity, Cough, Intercostal retractions, Tachypnea, H... ORPHA:91359
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Dyspnea, Respiratory failure ORPHA:1832
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Decreased nerve conduction velocity, Abnormal basal ganglia MRI signal intensity, Optic atrophy, ... ORPHA:485421
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Abnormal upper motor neuron morphology, Neurogenic bladder, Abnormal cer... OMIM:263570
Cryptogenic Organizing Pneumonia
Respiratory distress, Hypoxemia, Nonproductive cough, Crackles, Wheezing, Cough, Restrictive vent... ORPHA:1302
Pleural Mesothelioma
Respiratory distress, Cough, Pleural effusion, Dyspnea, Abnormal respiratory system physiology ORPHA:50251
Dystonia 31
Abnormal posturing OMIM:619565
Oculocerebrocutaneous Syndrome
Anophthalmia, Microphthalmia OMIM:164180
Holoprosencephaly 7
Hydrocephalus, Alobar holoprosencephaly, Holoprosencephaly, Panhypopituitarism, Fusion of the lef... OMIM:610828
Basel-Vanagaite-Smirin-Yosef Syndrome
Cerebral atrophy, Cavum septum pellucidum, Contracture of the proximal interphalangeal joint of t... ORPHA:464738
Coach Syndrome 2
Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:619111
Severe X-Linked Mitochondrial Encephalomyopathy
Respiratory distress, Respiratory insufficiency ORPHA:238329
Laryngeal Web, Familial
Respiratory distress, Stridor OMIM:150360
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis OMIM:619466
Ravine Syndrome
Atrophy/Degeneration affecting the brainstem, Abnormal basal ganglia morphology, Abnormal brainst... ORPHA:99852
Gaucher Disease Type 2
Respiratory distress, Abnormal pattern of respiration, Cough ORPHA:77260
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Amyotrophic lateral sclerosis, Proximal muscle weakness in lower limbs, Increased variability in ... OMIM:613954
Hydranencephaly
Cerebral cortical atrophy, Atrophic pituitary gland, Optic nerve hypoplasia, Abnormal corpus stri... ORPHA:2177
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy,... OMIM:616437
Adult Krabbe Disease
Abnormal pons morphology, Morphological abnormality of the corticospinal tract, Morphological abn... ORPHA:206448
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Respiratory failure, Cough, Tachypnea OMIM:263000
Familial Nasal Acilia
Respiratory distress, Chronic rhinitis, Chronic sinusitis, Bronchiectasis, Dyspnea ORPHA:922
Panhypophysitis
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Orthostatic ... ORPHA:95513
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Multiple joint contractures, Cerebral cortical atrophy, Holoprosencephaly, Microcephaly, Camptoda... ORPHA:2570
Glycosylphosphatidylinositol Biosynthesis Defect 17
Dysplastic corpus callosum, Primary microcephaly OMIM:618010
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Microgastria-Limb Reduction Defects Association
Aganglionic megacolon, Fusion of the left and right thalami, Arrhinencephaly, Polymicrogyria, Por... OMIM:156810
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Chronic pulmonary obstruction, Crackles, Cough, Pneumothorax, Pleural effus... ORPHA:411703
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Leukoencephalopathy, Cerebral atrophy, Basal ganglia calcification, Hypoplasia of the corpus call... OMIM:221770
X-Linked Intellectual Disability, Wilson Type
Lateral ventricle dilatation, Microcephaly ORPHA:85290
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome
Contracture of the proximal interphalangeal joint of the 4th toe, Cavum septum pellucidum, Latera... ORPHA:457279
Distal Monosomy 10Q
Facial diplegia, Cavum septum pellucidum, Microcephaly, Spina bifida occulta, Lateral ventricle d... ORPHA:96148
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Increased variability in muscle fiber diameter, A... ORPHA:70595
Manitoba Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia OMIM:248450
Joubert Syndrome 31
Molar tooth sign on MRI, Ventriculomegaly, Hypoplasia of the corpus callosum OMIM:617761
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Abnorma... ORPHA:275872
Obesity-Colitis-Hypothyroidism-Cardiac Hypertrophy-Developmental Delay Syndrome
Cardiomegaly ORPHA:88643
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset
Respiratory distress, Respiratory insufficiency, Respiratory failure, Restrictive ventilatory defect OMIM:614399
Bardet-Biedl Syndrome 16
Respiratory distress OMIM:615993
Adenohypophysitis
Adrenocorticotropic hormone deficiency, Reduced circulating prolactin concentration, Orthostatic ... ORPHA:95512
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Focal T2 hyperintense thalamic lesion, Death in infancy OMIM:619046
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Abnormality of thalamus morphology ORPHA:404440
Mosaic Trisomy 1
Congenital diaphragmatic hernia, Camptodactyly of finger, Polymicrogyria, Lateral ventricle dilat... ORPHA:1692
Congenital Laryngeal Web
Respiratory distress, Stridor ORPHA:2374
Autosomal Recessive Spastic Paraplegia Type 66
Limb hypertonia, Colpocephaly, Hypoplasia of the corpus callosum, Lower limb amyotrophy ORPHA:401815
Peroxisome Biogenesis Disorder 6A (Zellweger)
Pachygyria, Colpocephaly OMIM:614870
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Respiratory distress, Respiratory insufficiency due to muscle weakness OMIM:300580
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Abnormal lateral ventricle morphology, Hypoplasia of the corpus callosum ORPHA:488635
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Alg13-Cdg
Abnormal lateral ventricle morphology ORPHA:324422
Tay-Sachs Disease
Quadriceps muscle atrophy, Lower limb muscle weakness, Optic atrophy, Hip flexor weakness, Abnorm... ORPHA:845
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Apnea, Hypoxemia, Neonatal death, Tachypnea, Cough, Death in infancy, Neona... OMIM:610921
Amyotrophic Lateral Sclerosis 21
Amyotrophic lateral sclerosis, Hand muscle weakness, Decreased nerve conduction velocity, Rimmed ... OMIM:606070
Trisomy 13
Atrial septal defect, Anophthalmia, Ventricular septal defect, Microphthalmia, Aplasia/Hypoplasia... ORPHA:3378
Progeria-Short Stature-Pigmented Nevi Syndrome
Abnormality of thalamus morphology, Microcephaly, Multiple joint contractures ORPHA:2959
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Amoebiasis Due To Free-Living Amoebae
Abnormal basal ganglia morphology, Abnormal pons morphology, Abnormal hypothalamus morphology, Ab... ORPHA:68
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Anophthalmia ORPHA:411986
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive
Respiratory distress, Lymphocytic interstitial pneumonia OMIM:245590
Cardiomyopathy, Familial Hypertrophic 27
Right ventricular hypertrophy, Concentric hypertrophic cardiomyopathy, Endocardial fibroelastosis... OMIM:618052
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, C... OMIM:105550
Pontocerebellar Hypoplasia Type 2
Dysplastic corpus callosum, Hypoplasia of the ventral pons, Abnormal cortical gyration, Hypoplasi... ORPHA:2524
Machado-Joseph Disease Type 3
Degeneration of anterior horn cells, Dilated fourth ventricle, Abnormal lower motor neuron morpho... ORPHA:276244
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Abnormal cerebral white matter morphology, Frontotemporal... ORPHA:100070
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type
Choroid plexus cyst, Abnormal caudate nucleus morphology, Lateral ventricle dilatation, Primary m... ORPHA:293725
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency, Recurrent pneumonia, Ventilator dependence with ... ORPHA:254875
Mucolipidosis Iv
Optic atrophy, Cerebral dysmyelination, Microcephaly, Dysplastic corpus callosum OMIM:252650
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Morphological abnormality of the corticospinal tract, Ach... OMIM:607225
Pontocerebellar Hypoplasia Type 10
Optic atrophy, Abnormal cerebral cortex morphology, Simplified gyral pattern, Abnormal brainstem ... ORPHA:411493
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Paucity of anterior horn motor neurons, Neonatal death, Arthrogryp... OMIM:253310
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Ventricular septal defect, Anophthalmia, Microphthalmia ORPHA:77298
Orofaciodigital Syndrome Vi
Molar tooth sign on MRI, Hypothalamic hamartoma OMIM:277170
Microphthalmia, Syndromic 11
Agenesis of pineal gland, Agenesis of corpus callosum OMIM:614402
Central Neurocytoma
Cerebral calcification, Hydrocephalus, Abnormal lateral ventricle morphology ORPHA:73256
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Nonproductive cough, Pleural empyema, Acute infectious pneumonia, Tachypnea... ORPHA:36238
Congenital Disorder Of Glycosylation, Type Iu
Respiratory distress, Death in infancy, Neonatal respiratory distress OMIM:615042
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Respiratory distress, Ventilator dependence with inability to wean, Respiratory failure requiring... ORPHA:254864
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Agenesis of corpus callosum ORPHA:380
Neurooculocardiogenitourinary Syndrome
Atrial septal defect, Ventricular septal defect, Patent foramen ovale, Microphthalmia, Cardiomegaly OMIM:618652
Congenital Toxoplasmosis
Hepatomegaly, Cardiomegaly, Microphthalmia ORPHA:858
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Reduced for... OMIM:610913
Combined Oxidative Phosphorylation Deficiency 12
Leukoencephalopathy, Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Ragged-red mu... OMIM:614924
Malaria
Respiratory distress ORPHA:673
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Respiratory distress ORPHA:91130
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Hepatomegaly, Cardiomyopathy, Cardiomegaly OMIM:617713
Joubert Syndrome 7
Abnormal corpus callosum morphology, Encephalocele, Molar tooth sign on MRI, Brainstem dysplasia,... OMIM:611560
Amyotrophic Lateral Sclerosis 2, Juvenile
Amyotrophic lateral sclerosis, Retrocollis, Microcephaly, Hand muscle atrophy, Spasticity of faci... OMIM:205100
Arnold-Chiari Malformation Type Ii
Myelomeningocele, Brain stem compression, Hydrocephalus, Aqueductal stenosis, Hand muscle atrophy... ORPHA:1136
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells, Pallor of dorsal columns of t... OMIM:602433
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Dysplastic corpus callosum, Flexion contracture, Optic nerve hypoplasia, Microcephaly, Polymicrog... OMIM:614833
Joubert Syndrome 3
Elongated superior cerebellar peduncle, Frontal polymicrogyria, Enlarged fossa interpeduncularis,... OMIM:608629
Microphthalmia, Syndromic 9
Atrial septal defect, Pulmonic stenosis, Single ventricle, Anophthalmia, Tetralogy of Fallot, Hyp... OMIM:601186
Congenital Pulmonary Lymphangiectasia
Respiratory distress, Chronic pulmonary obstruction, Cough, Pleural effusion, Pulmonary arterial ... ORPHA:2414
Joubert Syndrome With Renal Defect
Hydrocephalus, Agenesis of corpus callosum, Polymicrogyria, Encephalocele, Molar tooth sign on MR... ORPHA:220497
Dworschak-Punetha Neurodevelopmental Syndrome
Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum OMIM:619955
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Death in childhood, Optic atrophy, Ventricu... OMIM:618651
Congenital Disorder Of Glycosylation, Type Iy
Respiratory distress OMIM:300934
Thyroid Lymphoma
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction ORPHA:97285
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome
Hip contracture, Abnormal basal ganglia morphology, Abnormal conus terminalis morphology, Cerebra... ORPHA:464321
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Lower limb muscle weakness ORPHA:2590
Short Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress ORPHA:26792
Fanconi Anemia, Complementation Group I
Decreased response to growth hormone stimulation test, Absent septum pellucidum, Optic nerve hypo... OMIM:609053
Meningioma
Hydrocephalus, Enlarged pituitary gland, Reduced circulating prolactin concentration, Hypothalami... ORPHA:2495
Acute Lung Injury
Respiratory distress, Tachypnea, Pneumonia, Hypoxemia, Dyspnea, Respiratory failure ORPHA:178320
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Cardiomegaly OMIM:300886
Aceruloplasminemia
Torticollis, Abnormal corpus striatum morphology, Abnormal thalamic MRI signal intensity ORPHA:48818
Acute Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529799
Chronic Bilirubin Encephalopathy
Abnormal thalamic MRI signal intensity, Abnormal auditory evoked potentials ORPHA:529808
Meckel Syndrome, Type 10
Anencephaly, Dilated fourth ventricle, Camptodactyly, Occipital encephalocele, Dandy-Walker malfo... OMIM:614175
Avian Influenza
Respiratory distress, Miscarriage, Nonproductive cough, Tachypnea, Cough, Pneumothorax, Productiv... ORPHA:454836
Prader-Willi Syndrome Due To Translocation
Cerebral cortical atrophy, Decreased response to growth hormone stimulation test, Microcephaly, L... ORPHA:177907
Anophthalmia Plus Syndrome
Anophthalmia ORPHA:1104
Ectodermal Dysplasia-Syndactyly Syndrome 2
Cardiomegaly OMIM:613576
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Meconium Aspiration Syndrome
Respiratory distress, Hypoxemia, Aspiration pneumonia, Wheezing, Pneumothorax, Neonatal asphyxia,... ORPHA:70588
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Small basal ganglia, Dysplastic corpus callosum, Cerebral atrophy, Macroglossia, Hypoplasia of th... OMIM:616900
Attrv30M Amyloidosis
Cardiomyopathy, Cardiomegaly ORPHA:85447
Hereditary Cryohydrocytosis With Reduced Stomatin
Decreased thalamic volume, Microcephaly, Communicating hydrocephalus, Intracerebral periventricul... ORPHA:168577
Leptin Receptor Deficiency
Pituitary hypothyroidism, Decreased response to growth hormone stimulation test, Abnormal hypotha... OMIM:614963
Meckel Syndrome, Type 4
Hydrocephalus, Microcephaly, Anencephaly, Hypoplasia of the corpus callosum, Meningocele, Encepha... OMIM:611134
Combined Oxidative Phosphorylation Deficiency 54
Dysplastic corpus callosum, Lower limb muscle weakness, Optic disc pallor, Secondary microcephaly... OMIM:619737
Joubert Syndrome With Ocular Defect
Hydrocephalus, Agenesis of corpus callosum, Polymicrogyria, Encephalocele, Molar tooth sign on MR... ORPHA:220493
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities
Hydrocephalus, Periventricular leukomalacia, Microcephaly, Optic atrophy, Distal arthrogryposis, ... OMIM:619833
Myopathy, Congenital, With Structured Cores And Z-Line Abnormalities
Cardiomegaly OMIM:618654
Joubert Syndrome 10
Molar tooth sign on MRI OMIM:300804
Mitochondrial Pyruvate Carrier Deficiency
Respiratory distress OMIM:614741
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Microcephaly, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Optic atrophy, Ventricul... OMIM:616975
Familial Atrial Myxoma
Bacterial endocarditis, Pulmonic valve myxoma, Cardiomegaly, Cardiac myxoma ORPHA:615
Bickerstaff Brainstem Encephalitis
Weakness of facial musculature, Abnormality of the autonomic nervous system, Decreased motor nerv... ORPHA:79138
Anaplastic Thyroid Carcinoma
Respiratory distress, Cough, Upper airway obstruction, Dyspnea, Stridor ORPHA:142
Lethal Recessive Chondrodysplasia
Respiratory distress ORPHA:1423
Congenital Disorder Of Glycosylation, Type Ix
Respiratory distress, Death in childhood OMIM:615597
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Amyotrophic Lateral Sclerosis 1
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Degeneration of ... OMIM:105400
Joubert Syndrome 22
Temporal cortical atrophy, Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:615665
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Respiratory distress ORPHA:240085
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Communicating hydrocephalus, Optic atrophy, Lissencephaly, Ventriculomegaly, Simplified gyral pat... OMIM:615219
Congenitally Uncorrected Transposition Of The Great Arteries
Abnormal pulmonary valve morphology, Abnormal mitral valve morphology, Anomalous pulmonary venous... ORPHA:860
Gómez-López-Hernández Syndrome
Hydrocephalus, Abnormal brainstem morphology ORPHA:1532
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia ORPHA:2717
Microphthalmia With Limb Anomalies
Anophthalmia, Microphthalmia OMIM:206920
Ciliary Dyskinesia, Primary, 2
Respiratory distress, Sinusitis, Ciliary dyskinesia, Bronchiectasis, Immotile cilia OMIM:606763
Trisomy 1Q
Ventricular septal defect, Anophthalmia ORPHA:261344
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities
Dysplastic corpus callosum, Flexion contracture, Microcephaly, Simplified gyral pattern, Hypoplas... OMIM:620001
Meckel Syndrome 13
Occipital encephalocele, Flexion contracture, Molar tooth sign on MRI OMIM:617562
Hydrolethalus
Anophthalmia, Microphthalmia ORPHA:2189
Joubert Syndrome 9
Encephalocele, Molar tooth sign on MRI, Ventriculomegaly OMIM:612285
Cerebrooculonasal Syndrome
Anophthalmia ORPHA:66625
Congenital Diaphragmatic Hernia
Respiratory distress, Hypoxemia ORPHA:2140
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea ORPHA:45452
Joubert Syndrome 2
Elongated superior cerebellar peduncle, Hypoplasia of the brainstem, Hydrocephalus, Optic disc co... OMIM:608091
Myopathy And Diabetes Mellitus
Respiratory distress ORPHA:2596
Weiss-Kruszka Syndrome
Left ventricular hypertrophy, Hypoplasia of the corpus callosum, Ventriculomegaly, Colpocephaly, ... OMIM:618619
Solitary Median Maxillary Central Incisor
Anophthalmia, Microphthalmia OMIM:147250
Joubert Syndrome 30
Molar tooth sign on MRI, Ventriculomegaly, Dandy-Walker malformation OMIM:617622
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Decreased nerve conduction velocity OMIM:612577
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Microcephaly, Colpocephaly, Polymicrogyria OMIM:618731
Joubert Syndrome 16
Encephalocele, Molar tooth sign on MRI, Dandy-Walker malformation OMIM:614465
Cockayne Syndrome Type 2
Hepatomegaly, Anophthalmia ORPHA:90322
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Oxygen desaturation on exertion, Asthma, Hypoxemia, Crackles, Wheezing, Tac... OMIM:610978
Craniopharyngioma
Hydrocephalus, Enlarged pituitary gland, Abnormal hypothalamus morphology, Papilledema, Cerebral ... ORPHA:54595
Nipah Virus Disease
Respiratory distress, Cough ORPHA:99825
Microphthalmia With Brain And Digit Anomalies
Anophthalmia, Microphthalmia ORPHA:139471
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy OMIM:215470
Mohr-Tranebjaerg Syndrome
Abnormal posturing OMIM:304700
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema
Respiratory distress, Upper airway obstruction ORPHA:100057
X-Linked Centronuclear Myopathy
Respiratory distress, Pneumonia, Respiratory failure requiring assisted ventilation ORPHA:596
Microphthalmia, Syndromic 5
Optic nerve hypoplasia, Anophthalmia, Microphthalmia OMIM:610125
Joubert Syndrome 40
Optic nerve hypoplasia, Molar tooth sign on MRI OMIM:619582
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI OMIM:617121
N-Acetylglutamate Synthase Deficiency
Respiratory distress OMIM:237310
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 6
Respiratory distress, Paradoxical respiration OMIM:620011
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Respiratory distress, Dyspnea, Cough ORPHA:86812
Surfactant Metabolism Dysfunction, Pulmonary, 1
Apnea, Neonatal death, Tachypnea, Death in infancy, Neonatal respiratory distress, Dyspnea, Pulmo... OMIM:265120
Mitochondrial Complex I Deficiency, Nuclear Type 36
Perimembranous ventricular septal defect, Cardiomegaly OMIM:619170
Congenital Tricuspid Valve Dysplasia
Tricuspid valve prolapse, Right atrial enlargement, Anomalous pulmonary venous return, Hepatomega... ORPHA:555874
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1
Dysplastic corpus callosum, Flexion contracture, Microcephaly, Death in childhood, Camptodactyly OMIM:604273
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Respiratory distress OMIM:612075
Timothy Syndrome
Ventricular septal defect, Tetralogy of Fallot, Patent foramen ovale, Cardiomegaly OMIM:601005
Carnitine Palmitoyltransferase Ii Deficiency, Infantile
Dilated cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:600649
Joubert Syndrome 4
Elongated superior cerebellar peduncle, Thickened superior cerebellar peduncle, Molar tooth sign ... OMIM:609583
Danon Disease
Myocardial fibrosis, Myocardial necrosis, Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Ca... OMIM:300257
Fixed Subaortic Stenosis
Bacterial endocarditis, Abnormal cardiac septum morphology, Bicuspid aortic valve, Atrioventricul... ORPHA:3092
Joubert Syndrome 23
Dysplastic corpus callosum OMIM:616490
Folinic Acid-Responsive Seizures
Respiratory distress, Apnea ORPHA:79097
Joubert Syndrome 1
Elongated superior cerebellar peduncle, Macroglossia, Microcephaly, Optic disc coloboma, Optic di... OMIM:213300
Hernia, Anterior Diaphragmatic
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Microcephaly, Hypoplasia of the corpus cal... OMIM:617260
Classic Pantothenate Kinase-Associated Neurodegeneration
Aspiration pneumonia, Cough, Abnormal posturing ORPHA:216866
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Pulmonary arterial hypertension, Tachypnea, Abnormal posturing OMIM:614857
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal basal ganglia morphology, Abnormal pons morphology, Cereb... ORPHA:1320
Ane Syndrome
Multiple joint contractures, Decreased response to growth hormone stimulation test, Reduced circu... ORPHA:157954
Neurogenic Arthrogryposis Multiplex Congenita
Respiratory distress, Respiratory insufficiency due to muscle weakness ORPHA:1143
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Joubert Syndrome 32
Molar tooth sign on MRI, Polymicrogyria OMIM:617757
Joubert Syndrome 18
Molar tooth sign on MRI, Camptodactyly OMIM:614815
Diaphanospondylodysostosis
Respiratory distress ORPHA:66637
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Dysplastic corpus callosum, Progressive ventriculomegaly, Optic nerve hypoplasia, Hypoplasia of t... ORPHA:500150
Joubert Syndrome With Oculorenal Defect
Hydrocephalus, Encephalocele, Molar tooth sign on MRI, Aganglionic megacolon, Aplasia/Hypoplasia ... ORPHA:2318
Matthew-Wood Syndrome
Anophthalmia, Microphthalmia ORPHA:2470
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Neonatal death, Death in infancy OMIM:300219
Carnitine Deficiency, Systemic Primary
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly, Endocardial fibroelastosis OMIM:212140
Spinocerebellar Ataxia, X-Linked 3
Episodic respiratory distress, Episodic hypoventilation, Death in infancy, Head titubation OMIM:301790
Combined Oxidative Phosphorylation Deficiency 53
Dysplastic corpus callosum, Death in childhood, Death in infancy, Secondary microcephaly, General... OMIM:619423
Odontochondrodysplasia
Respiratory distress, Death in infancy ORPHA:166272
Infantile Sialic Acid Storage Disease
Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:269920
Slc35A1-Cdg
Respiratory distress, Hypoxemia, Pneumonia ORPHA:238459
Progressive Supranuclear Palsy-Corticobasal Syndrome
Respiratory distress ORPHA:240103
Cerebellar-Facial-Dental Syndrome
Microcephaly, Limb hypertonia, Hypoplasia of the pons, Hypoplasia of the corpus callosum, Ventric... ORPHA:444072
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Hydrocephalus, Abnormal brainstem morphology, Ventriculomegaly, Abnormal cerebral cortex morpholo... ORPHA:163961
Infant Acute Respiratory Distress Syndrome
Tachypnea, Pneumonia, Hypoxemia, Respiratory failure, Nasal flaring ORPHA:70587
Brown-Vialetto-Van Laere Syndrome 1
Respiratory distress, Respiratory insufficiency, Nocturnal hypoventilation, Dyspnea, Stridor OMIM:211530
Choreoacanthocytosis
Small basal ganglia, Cerebral cortical atrophy, Frontal cortical atrophy, Muscle fiber atrophy, A... ORPHA:2388
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2759
Attrv122I Amyloidosis
Cardiac amyloidosis, Aortic valve stenosis, Restrictive cardiomyopathy, Left ventricular hypertro... ORPHA:85451
Hypoglossia With Situs Inversus
Respiratory distress, Upper airway obstruction OMIM:612776
Walker-Warburg Syndrome
Anophthalmia, Microphthalmia ORPHA:899
Joubert Syndrome 6
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Enlarged fossa interpedunculari... OMIM:610688
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Interhypothalamic Adhesion, Agenesis of corpus callosum OMIM:618929
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Hepatomegaly, Cardiomegaly OMIM:619064
Coenzyme Q10 Deficiency, Primary, 8
Respiratory distress OMIM:616733
Mulibrey Nanism
Myocardial fibrosis, Hepatomegaly, Cardiomegaly, Pericardial constriction OMIM:253250
Multiple Carboxylase Deficiency
Respiratory distress, Tachypnea ORPHA:148
Gangliocytoma
Abnormality of the pituitary gland, Pituitary null cell adenoma, Elevated circulating growth horm... ORPHA:251937
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Cardiomyopathy, Familial Hypertrophic, 4
Right atrial enlargement, Hepatomegaly, Myofiber disarray, Muscular ventricular septal defect, Ve... OMIM:115197
Joubert Syndrome 37
Molar tooth sign on MRI, Hypoplasia of the corpus callosum OMIM:619185
Joubert Syndrome 25
Molar tooth sign on MRI OMIM:616781
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Respiratory distress OMIM:618426
Acquired Methemoglobinemia
Respiratory distress, Dyspnea, Hypoxemia ORPHA:464453
Spondyloenchondrodysplasia
Decreased response to growth hormone stimulation test, Cerebral calcification, Abnormal periventr... ORPHA:1855
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:205250
Choanal Atresia
Respiratory distress, Tracheomalacia, Abnormal nasal mucus secretion, Chronic sinusitis, Upper ai... ORPHA:137914
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:611895
Microphthalmia, Syndromic 3
Optic nerve hypoplasia, Anophthalmia, Ventricular septal defect, Microphthalmia, Optic nerve aplasia OMIM:206900
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Tricuspid valve prolapse, Anophthalmia, Aniridia ORPHA:1101
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Respiratory distress ORPHA:261304
Mitochondrial Complex Iv Deficiency, Nuclear Type 7
Ventricular hypertrophy, Hypertrophic cardiomyopathy, Cardiomegaly OMIM:619051
Hyperparathyroidism, Transient Neonatal
Respiratory distress OMIM:618188
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Morphological abnormality of the pyramidal tract, Distal amyotroph... OMIM:608627
Tularemia
Respiratory distress, Pleural effusion, Pneumonia, Cough ORPHA:3392
Holoprosencephaly-Caudal Dysgenesis Syndrome
Microcephaly, Abnormality of the diencephalon, Holoprosencephaly ORPHA:2165
Aorta Coarctation
Bicuspid aortic valve, Hypoplastic left heart, Aortic valve atresia, Tetralogy of Fallot, Abnorma... ORPHA:1457
Even-Plus Syndrome
Dysplastic corpus callosum, Agenesis of corpus callosum OMIM:616854
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Hydrocephalus, Frontal encephalocele ORPHA:261102
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Flexion contracture, Small pituitary gland, Hypoplasia of the corpus callosum, Ventriculomegaly, ... OMIM:619479
Coronary Arterial Fistula
Bacterial endocarditis, Bicuspid aortic valve, Atrial septal defect, Aortic valve stenosis, Paten... ORPHA:2041
Primary Lateral Sclerosis
Atrophy of the spinal cord, Cervical spinal cord atrophy, Abnormal upper motor neuron morphology ORPHA:35689
Fibular Hemimelia
Anophthalmia, Abnormal heart morphology ORPHA:93323
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Spinocerebellar Ataxia Type 1
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Abnor... ORPHA:98755
Mucopolysaccharidosis, Type Iiib
Asymmetric septal hypertrophy, Hepatomegaly, Cardiomegaly, Splenomegaly OMIM:252920
Oculocerebral Hypopigmentation Syndrome, Preus Type
Hydrocephalus, Abnormality of the diencephalon, Abnormal brainstem morphology ORPHA:2720
Intellectual Disability-Strabismus Syndrome
Decreased response to growth hormone stimulation test, Congenital diaphragmatic hernia, Joint con... ORPHA:363528
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Abnormal pons morphology, Hypoglycosylation of alpha-dystroglycan, Polymicrogyria, Hypoplasia of ... ORPHA:370997
Neuraminidase Deficiency
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:256550
Stt3B-Cdg
Respiratory distress ORPHA:370924
Huntington Disease-Like 1
Abnormal posturing ORPHA:157941
Nasolacrimal Duct Cyst
Episodic respiratory distress, Intercostal retractions, Abnormal breath sound, Paroxysmal dyspnea... ORPHA:141083
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis, Limb muscle weakness OMIM:619141
Joubert Syndrome 15
Molar tooth sign on MRI OMIM:614464
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Spastic Paraplegia 9A, Autosomal Dominant
Generalized amyotrophy, Abnormal upper motor neuron morphology, Lower limb muscle weakness OMIM:601162
Surfactant Metabolism Dysfunction, Pulmonary, 5
Dyspnea, Exertional dyspnea, Respiratory insufficiency OMIM:614370
Inhalational Anthrax
Respiratory distress, Dyspnea ORPHA:247257
Amyotrophic Lateral Sclerosis 18
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:614808
Acrocallosal Syndrome
Congenital diaphragmatic hernia, Dandy-Walker malformation, Aplasia/Hypoplasia of the corpus call... ORPHA:36
Joubert Syndrome 35
Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Chitayat Syndrome
Respiratory distress, Tracheomalacia OMIM:617180
Cantu Syndrome
Bicuspid aortic valve, Congenital hypertrophy of left ventricle, Pericardial effusion, Cardiomegaly OMIM:239850
Lissencephaly Syndrome, Norman-Roberts Type
Respiratory distress ORPHA:89844
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Episodic tachypnea, Apneic episodes in infancy, Dyspnea, Intermittent hyper... ORPHA:348
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Cockayne Syndrome Type 1
Hepatomegaly, Anophthalmia ORPHA:90321
Orofaciodigital Syndrome Type 14
Open operculum, Dilated third ventricle, Microcephaly, Dilated fourth ventricle, Hypoplasia of th... ORPHA:434179
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress OMIM:608799
Pulmonary Hypertension, Primary, 3
Dyspnea, Pulmonary arterial hypertension, Elevated pulmonary artery pressure, Increased pulmonary... OMIM:615343
Alpha-N-Acetylgalactosaminidase Deficiency
Cardiomegaly ORPHA:3137
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0
Respiratory distress ORPHA:289916
Congenital Tracheomalacia
Apnea, Tracheomalacia, Decreased peak expiratory flow, Respiratory insufficiency, Neonatal respir... ORPHA:95430
Holoprosencephaly
Abnormal pulmonary valve morphology, Anophthalmia, Tetralogy of Fallot, Ventricular septal defect... ORPHA:2162
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Amyotrophic Lateral Sclerosis 23
Amyotrophic lateral sclerosis, Degeneration of anterior horn cells OMIM:617839
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia ORPHA:972
Microcephaly 26, Primary, Autosomal Dominant
Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum, Ventriculomegaly, Si... OMIM:619179
Autosomal Recessive Cutis Laxa Type 2A
Dysplastic corpus callosum, Dilated fourth ventricle, Thick cerebral cortex, Primary microcephaly... ORPHA:357058
Hemochromatosis, Type 1
Hepatomegaly, Cardiomyopathy, Cardiomegaly, Splenomegaly OMIM:235200
Holocarboxylase Synthetase Deficiency
Respiratory distress, Tachypnea ORPHA:79242
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Hydrocephalus, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Polymicro... OMIM:236670
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Death in childhood, Exertional dyspnea, Respiratory failure, Respiratory in... OMIM:220110
Orofaciodigital Syndrome Type 6
Aplasia/Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Hypothalamic hamartoma ORPHA:2754
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly
Respiratory distress OMIM:617102
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Microcephaly, Congenital diaphragmatic hernia ORPHA:438134
Combined Oxidative Phosphorylation Deficiency 41
Cardiomegaly OMIM:618838
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-
Respiratory distress ORPHA:79312
Neurodegeneration With Brain Iron Accumulation 4
Distal amyotrophy, Abnormal lower motor neuron morphology, Optic atrophy, Lewy bodies, Scapular w... OMIM:614298
Emanuel Syndrome
Multiple joint contractures, Hydrocephalus, Cerebral atrophy, Congenital diaphragmatic hernia, Mi... ORPHA:96170
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Skeletal muscle atrophy OMIM:612069
Odontochondrodysplasia 1
Respiratory distress, Death in infancy OMIM:184260
Coach Syndrome 1
Optic disc pallor, Encephalocele, Occipital encephalocele, Molar tooth sign on MRI OMIM:216360
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Respiratory distress, Apnea, Aspiration pneumonia, Recurrent pneumonia, Hypoventilation ORPHA:314655
Gaucher Disease, Type Iiic
Mitral stenosis, Aortic valve calcification, Hepatomegaly, Splenomegaly, Mitral valve calcificati... OMIM:231005
Synaptic Congenital Myasthenic Syndromes
Respiratory distress, Sleep apnea, Respiratory insufficiency, Neonatal respiratory distress, Exer... ORPHA:98915
Microgastria-Limb Reduction Defect Syndrome
Hepatomegaly, Atrial septal defect, Anophthalmia, Microphthalmia, Truncus arteriosus ORPHA:2538
Carnitine Palmitoyltransferase I Deficiency
Hepatomegaly, Cardiomegaly OMIM:255120
Isolated Right Ventricular Hypoplasia
Right atrial enlargement, Atrial septal defect, Muscular ventricular septal defect, Patent forame... ORPHA:439
Schisis Association
Congenital diaphragmatic hernia, Microcephaly, Anencephaly, Encephalocele, Spina bifida ORPHA:63862
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Colpocephaly, Ventriculomegaly, Hypoplasia of the corpus callosum ORPHA:261250
Refsum Disease, Classic
Cardiomyopathy, Cardiomegaly OMIM:266500
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Mitral valve prolapse, Abnormal atrioventricular valve morphology, Aortic valve stenosis, Cardiom... ORPHA:324410
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Anophthalmia, Microphthalmia OMIM:615877
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Hydrocephalus, Congenital diaphragmatic hernia, Anencephaly, Polymicrogyria, Molar tooth sign on MRI OMIM:616546
Lennox-Gastaut Syndrome
Abnormal brainstem morphology ORPHA:2382
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Microcephaly, Cerebral cortical atrophy, Congenital diaphragmatic hernia ORPHA:1166
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure OMIM:617895
Episodic Ataxia Type 1
Respiratory distress ORPHA:37612
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal
Dysplastic corpus callosum, Neonatal death OMIM:618810
Joubert Syndrome 38
Ectopic posterior pituitary, Molar tooth sign on MRI, Decreased response to growth hormone stimul... OMIM:619476
Triosephosphate Isomerase Deficiency
Respiratory distress, Respiratory insufficiency, Death in adolescence, Death in infancy, Respirat... OMIM:615512
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Respiratory distress ORPHA:544503
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Optic atrophy, Abnormal brainstem morphology, Generalized amyotrophy ORPHA:79279
15Q24 Microdeletion Syndrome
Myelomeningocele, Congenital diaphragmatic hernia, Microcephaly, Decreased response to growth hor... ORPHA:94065
Microphthalmia With Linear Skin Defects Syndrome
Tricuspid valve prolapse, Abnormal cardiac septum morphology, Anophthalmia, Mitral valve prolapse... ORPHA:2556
Developmental And Epileptic Encephalopathy 68
Respiratory distress OMIM:618201
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Dyspnea, Respiratory failure ORPHA:2707
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency
Respiratory distress ORPHA:927
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Cerebral cortical atrophy, Neurogenic bladder OMIM:615911
Myotonic Dystrophy 1
Respiratory distress OMIM:160900
Tetanus
Respiratory distress, Tachypnea ORPHA:3299
Craniofrontonasal Dysplasia
Microcephaly, Camptodactyly of finger, Congenital diaphragmatic hernia, Hypoplasia of the corpus ... ORPHA:1520
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Diaphragmatic eventration, Partial agenesis of the corpus callos... OMIM:222448
Restrictive Dermopathy 2
Respiratory distress OMIM:619793
Oculocerebrocutaneous Syndrome
Hydrocephalus, Congenital diaphragmatic hernia, Polymicrogyria, Ventriculomegaly, Dandy-Walker ma... ORPHA:1647
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Flexion contracture, Large basal ganglia, Focal hypointensity of cerebral white matter on MRI, Ag... ORPHA:261552
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs
Respiratory distress ORPHA:226313
Multiple Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Neonatal death OMIM:231680
Linear Skin Defects With Multiple Congenital Anomalies 1
Hydrocephalus, Congenital diaphragmatic hernia, Absent septum pellucidum, Microcephaly, Colpoceph... OMIM:309801
Congenital Myasthenic Syndrome
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Episodic respiratory distress, Respiratory arrest, Central sleep apnea, Intermittent episodes of ... ORPHA:98914
Meckel Syndrome
Situs inversus totalis, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia ORPHA:564
Microphthalmia, Syndromic 2
Double outlet right ventricle, Aortic valve stenosis, Atrial septal defect, Pulmonic stenosis, An... OMIM:300166
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Hepatomegaly, Cardiomegaly ORPHA:42
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Anophthalmia, Microphthalmia ORPHA:2250
Amyloidosis, Hereditary, Transthyretin-Related
Cardiomyopathy, Cardiomegaly OMIM:105210
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Vacterl With Hydrocephalus
Anophthalmia, Microphthalmia ORPHA:3412
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Non-24-Hour Sleep-Wake Syndrome
Abnormal pineal melatonin secretion ORPHA:73267
Moebius Syndrome
Respiratory distress OMIM:157900
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Elongated superior cerebellar peduncle, Dilated fourth ventricle, Abnormal brainstem morphology ORPHA:370022
Mitochondrial Complex I Deficiency, Nuclear Type 37
Respiratory distress, Pulmonary arterial hypertension OMIM:619272
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Flexion contracture, Large basal ganglia, Focal hypointensity of cerebral white matter on MRI, Ag... ORPHA:261537
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Adrenocorticotropic hormone deficiency, Decreased response to growth hormone stimulation test, Ab... ORPHA:293987
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Amyotrophic lateral sclerosis, Abnormality of the ... ORPHA:600
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI, Ventriculomegaly OMIM:617563
Glycogen Storage Disease Of Heart, Lethal Congenital
Biventricular hypertrophy, Cardiomyopathy, Cardiomegaly OMIM:261740
Idiopathic Pulmonary Hemosiderosis
Hepatosplenomegaly, Hepatomegaly, Cardiomegaly ORPHA:99931
Meckel Syndrome, Type 1
Cerebral hypoplasia, Hydrocephalus, Microcephaly, Camptodactyly of finger, Dilated fourth ventric... OMIM:249000
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Hypertrophic cardiomyopathy, Hepatomegaly, Cardiomegaly OMIM:201475
Cerebellofaciodental Syndrome
Microcephaly, Hypoplasia of the pons, Hypoplasia of the midbrain, Ventriculomegaly, Thin corpus c... OMIM:616202
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Congenital diaphragmatic hernia, Spina bifida, Ventriculomegaly, Death in infancy ORPHA:1120
Heterotaxy, Visceral, 1, X-Linked
Hepatomegaly, Atrioventricular canal defect, Enlarged kidney, Ventricular septal defect, Cardiome... OMIM:306955
Holoprosencephaly 13, X-Linked