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