Agenesis Of Cerebral White Matter |
|
Cerebral white matter agenesis |
OMIM:202600 |
Specific Language Impairment 5 |
|
Hyperintensity of cerebral white matter on MRI |
OMIM:615432 |
Schizencephaly |
|
Schizencephaly, Agenesis of corpus callosum, Cerebral cortical atrophy |
OMIM:269160 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia, Primary microcephaly, Polymicrogyria, Agenesis of co... |
ORPHA:171703 |
Mirror Movements 1 |
|
Agenesis of corpus callosum |
OMIM:157600 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Peripheral axonal neuropathy, Facial palsy, Dysgenesis of the basal ganglia, Hypoplastic anterior... |
OMIM:600638 |
Cortical Dysplasia, Complex, With Other Brain Malformations 1 |
|
Frontal polymicrogyria, Fusion of the caudate and putamen, Microcephaly, Cortical dysplasia, Simp... |
OMIM:614039 |
Cortical Dysplasia, Complex, With Other Brain Malformations 7 |
|
Cerebellar vermis hypoplasia, Unilateral polymicrogyria, Microcephaly, Partial agenesis of the co... |
OMIM:610031 |
Chudley-Mccullough Syndrome |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Hydrocephalus, Cerebellar hy... |
OMIM:604213 |
Spastic Paraplegia 45, Autosomal Recessive |
|
Dysplastic corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum |
OMIM:613162 |
Polymicrogyria With Optic Nerve Hypoplasia |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Colpocephaly, Hypoplasia of the brainstem, Po... |
ORPHA:250972 |
Congenital Disorder Of Glycosylation With Defective Fucosylation 2 |
|
Agenesis of corpus callosum, Periventricular leukomalacia, Optic atrophy, Respiratory insufficiency |
OMIM:618324 |
Sub-Cortical Nodular Heterotopia |
|
Abnormal basal ganglia morphology, Hypoplasia of the corpus callosum, Abnormal cerebral cortex mo... |
ORPHA:101029 |
Craniotelencephalic Dysplasia |
|
Septo-optic dysplasia, Microcephaly, Hydrocephalus, Frontal encephalocele, Optic atrophy, Lissenc... |
ORPHA:1528 |
Posterior-Predominant Lissencephaly-Broad Flat Pons And Medulla-Midline Crossing Defects Syndrome |
|
Abnormality of the anterior commissure, Optic nerve hypoplasia, Aplasia/Hypoplasia of the cerebel... |
ORPHA:572013 |
Arthrogryposis Multiplex Congenita 4, Neurogenic, With Agenesis Of The Corpus Callosum |
|
Death in infancy, Microcephaly, Optic atrophy, Agenesis of corpus callosum, Death in childhood, F... |
OMIM:618766 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Abnormal mucociliary clearance, Bronchiectasis, Lissencephaly, Hypoplasia o... |
OMIM:619466 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Abnormality of the anterior commissure, Hydrocephalus, Agenesis of corpus... |
OMIM:617542 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Microcephaly, Respiratory insufficiency due to muscle weakness, Dysplastic corpus callosum, Hypop... |
OMIM:618276 |
X-Linked Neurodegenerative Syndrome, Bertini Type |
|
Death in infancy, Agenesis of corpus callosum |
ORPHA:85334 |
Osteochondrodysplasia, Rhizomelic, With Callosal Agenesis, Thrombocytopenia, Hydrocephalus, And Hypertension |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:166990 |
Lissencephaly, X-Linked, 1 |
|
Death in infancy, Lissencephaly, Pachygyria, Agenesis of corpus callosum, Agyria |
OMIM:300067 |
Fetal Akinesia Syndrome, X-Linked |
|
Stillbirth, Agenesis of corpus callosum |
OMIM:300073 |
Microcephaly 5, Primary, Autosomal Recessive |
|
Microcephaly, Cortical dysplasia, Simplified gyral pattern, Small cerebral cortex, Cerebellar hyp... |
OMIM:608716 |
Lissencephaly 4 |
|
Simplified gyral pattern, Colpocephaly, Lissencephaly, Cerebellar hypoplasia, Primary microcephal... |
OMIM:614019 |
Craniotelencephalic Dysplasia |
|
Absent septum pellucidum, Optic nerve hypoplasia, Frontal encephalocele, Lissencephaly, Cerebella... |
OMIM:218670 |
Corpus Callosum, Agenesis Of |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:217990 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Respiratory insufficiency, Sensory axonal neuropathy, Abnormal corpus stria... |
ORPHA:238329 |
Lissencephaly 3 |
|
Cerebellar vermis hypoplasia, Microcephaly, Polymicrogyria, Hypoplasia of the brainstem, Lissence... |
OMIM:611603 |
Dihydropyrimidine Dehydrogenase Deficiency |
|
Agenesis of corpus callosum, Optic atrophy, Cerebral atrophy, Microcephaly |
OMIM:274270 |
Pontocerebellar Hypoplasia, Type 15 |
|
Death in infancy, Hydrocephalus, Partial agenesis of the corpus callosum, Simplified gyral patter... |
OMIM:619302 |
Cortical Dysplasia, Complex, With Other Brain Malformations 6 |
|
Cerebellar vermis hypoplasia, Focal polymicrogyria, Dysgenesis of the basal ganglia, Partial agen... |
OMIM:615771 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401830 |
Lissencephaly Due To Tuba1A Mutation |
|
Agyria, Aganglionic megacolon, Optic nerve hypoplasia, Cerebellar vermis hypoplasia, Microcephaly... |
ORPHA:171680 |
Ventriculomegaly And Arthrogryposis |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
OMIM:619501 |
Autosomal Recessive Spastic Paraplegia Type 67 |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Aplasia/Hypoplasia of the cerebellar vermis |
ORPHA:401820 |
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies |
|
Absent septum pellucidum, Microcephaly, Simplified gyral pattern, Cerebral atrophy, Hypoplasia of... |
OMIM:618492 |
Infantile Osteopetrosis With Neuroaxonal Dysplasia |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Pneumonia, Cerebral atrophy |
ORPHA:85179 |
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2 |
|
Optic disc pallor, Microcephaly, Hypoplasia of the pons, Partial agenesis of the corpus callosum,... |
OMIM:616171 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Aganglionic megacolon, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, Cere... |
OMIM:304100 |
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation |
|
Mild malformation of cortical development, Dysplastic corpus callosum, Abnormal cerebral white ma... |
ORPHA:500166 |
Pontocerebellar Hypoplasia, Type 14 |
|
Death in infancy, Hypoplasia of the pons, Simplified gyral pattern, Hypoplasia of the brainstem, ... |
OMIM:619301 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Agenesis of corpus callosum |
OMIM:618197 |
Polymicrogyria Due To Tubb2B Mutation |
|
Schizencephaly, Microcephaly, Hypoplasia of the pons, Cortical dysplasia, Dysgenesis of the basal... |
ORPHA:300573 |
Microcephaly 17, Primary, Autosomal Recessive |
|
Simplified gyral pattern, Microlissencephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia,... |
OMIM:617090 |
Masa Syndrome |
|
Agenesis of corpus callosum |
ORPHA:2466 |
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Partial agenesis of the corpus callosum, Si... |
ORPHA:300570 |
Mismatch Repair Cancer Syndrome 4 |
|
Agenesis of corpus callosum |
OMIM:619101 |
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities |
|
Reduced cerebral white matter volume, Dysplastic corpus callosum, Leukoencephalopathy, Secondary ... |
OMIM:620317 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Hypoplastic anterior commissu... |
OMIM:618325 |
Macrocephaly, Acquired, With Impaired Intellectual Development |
|
Probst bundles, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:618286 |
Congenital Disorder Of Glycosylation, Type Iiy |
|
Thin corpus callosum, Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
OMIM:620200 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Death in infancy, Cerebral white matter atrophy, Neonatal respiratory distr... |
OMIM:615042 |
Burning Mouth Syndrome |
|
Abnormal fifth cranial nerve morphology, Abnormality of somatosensory evoked potentials |
ORPHA:353253 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Agenesis of cerebellar vermis, Hypoplasia of the pons, Hydrocephalus, ... |
OMIM:613153 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy |
OMIM:619099 |
Gaba-Transaminase Deficiency |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Death in childhood |
OMIM:613163 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Microcephaly, Periventricular cysts, Cerebral atrophy, Abnormal basal ganglia morphology, Hypopla... |
ORPHA:255182 |
Cerebrooculofacioskeletal Syndrome 3 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly |
OMIM:616570 |
Developmental And Epileptic Encephalopathy 88 |
|
Hypoplasia of the pons, Inferior cerebellar vermis hypoplasia, Partial agenesis of the corpus cal... |
OMIM:618959 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Agenesis of corpus callosum, Caudate atrophy, Optic atrophy |
OMIM:618238 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Reduced cerebral white matter volume, Microcephaly, Hypoplasia of the corpu... |
OMIM:617977 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Respiratory insufficiency, Peripheral hypomyelination,... |
OMIM:605253 |
Microcephaly 16, Primary, Autosomal Recessive |
|
Agenesis of corpus callosum, Simplified gyral pattern, Primary microcephaly |
OMIM:616681 |
Combined Oxidative Phosphorylation Deficiency 50 |
|
Partial agenesis of the corpus callosum, Microcephaly |
OMIM:619025 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Respiratory distress, Holoprosencephaly, Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus... |
ORPHA:990 |
Warburg Micro Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Perisylvian polymicrogyria, Optic atrophy, Cerebral a... |
OMIM:600118 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Lateral ventricle dilatation, Spina... |
OMIM:618736 |
Masa Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:303350 |
Band Heterotopia |
|
Hydrocephalus, Subcortical band heterotopia, Lateral ventricle dilatation, Polymicrogyria, Agenes... |
OMIM:600348 |
Epilepsy, Progressive Myoclonic, 9 |
|
Agenesis of corpus callosum, Simplified gyral pattern |
OMIM:616540 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Cerebral atrophy |
ORPHA:166024 |
Spastic Paraplegia 11, Autosomal Recessive |
|
Decreased number of peripheral myelinated nerve fibers, Degeneration of the lateral corticospinal... |
OMIM:604360 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Microcephaly, Hypoplasia of the corpus callosum, Pulmonary arterial hypertensi... |
OMIM:300887 |
Glycine Encephalopathy 1 |
|
Death in infancy, Agenesis of corpus callosum |
OMIM:605899 |
Lissencephaly 7 With Cerebellar Hypoplasia |
|
Death in infancy, Microcephaly, Lissencephaly, Cerebellar hypoplasia, Neonatal death, Agenesis of... |
OMIM:616342 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Microcephaly, Dysplastic corpus callosum, Lissencephaly, Polymicrogyria, ... |
OMIM:614833 |
Microcephaly, Amish Type |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Optic atrophy, Cerebellar ... |
OMIM:607196 |
Usmani-Riazuddin Syndrome, Autosomal Recessive |
|
Agenesis of corpus callosum |
OMIM:619548 |
3Q13 Microdeletion Syndrome |
|
Agenesis of corpus callosum |
ORPHA:1621 |
Joubert Syndrome 23 |
|
Dysplastic corpus callosum, Tachypnea, Apnea |
OMIM:616490 |
Septooptic Dysplasia |
|
Absent septum pellucidum, Agenesis of corpus callosum, Optic nerve hypoplasia |
OMIM:182230 |
Glycosylphosphatidylinositol Biosynthesis Defect 17 |
|
Dysplastic corpus callosum, Primary microcephaly |
OMIM:618010 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Microcephaly, Neuronal loss in the cerebral cortex, Respira... |
ORPHA:168486 |
Mucolipidosis Iv |
|
Dysplastic corpus callosum, Optic atrophy, Cerebral dysmyelination, Microcephaly |
OMIM:252650 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Facial palsy, Frontalis m... |
OMIM:300580 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aspiration pneumonia |
ORPHA:141152 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Optic atrophy, Microcephaly |
ORPHA:26792 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Decreased nerve conducti... |
OMIM:218000 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Peripheral axonal neuropathy, Microcephaly, Dysplastic corpus callosum, Colpocephaly, Agenesis of... |
OMIM:619955 |
Stxbp1-Related Encephalopathy |
|
Dysplastic corpus callosum, Cerebral white matter atrophy |
ORPHA:599373 |
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome |
|
Agenesis of corpus callosum |
ORPHA:459074 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly |
OMIM:245349 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Respiratory distress, Optic atrophy, Death in childhood, Microcephaly |
OMIM:615597 |
Lissencephaly Type 3-Metacarpal Bone Dysplasia Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Neuronal loss in the cerebral cortex, Abno... |
ORPHA:86822 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Pneumonia |
OMIM:254120 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Respiratory insuffi... |
OMIM:614399 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Partial agenesis of the corpus callosum, Optic atrophy, Hypoplasia of the... |
ORPHA:500144 |
Hydrocephalus, Congenital, X-Linked |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Corticospinal tract hypoplasia, Age... |
OMIM:307000 |
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations |
|
Partial agenesis of the corpus callosum, Optic atrophy, Microcephaly |
OMIM:618346 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Agenesis of corpus callosum |
OMIM:614111 |
Coach Syndrome 2 |
|
Cerebellar vermis hypoplasia, Hydrocephalus, Apneic episodes in infancy, Agenesis of corpus callosum |
OMIM:619111 |
Familial Congenital Mirror Movements |
|
Agenesis of corpus callosum, Abnormal corticospinal tract morphology |
ORPHA:238722 |
Corpus Callosum Agenesis-Abnormal Genitalia Syndrome |
|
Agenesis of corpus callosum, Cerebral cortical atrophy, Microcephaly |
ORPHA:2508 |
Combined Oxidative Phosphorylation Deficiency 2 |
|
Neonatal death, Agenesis of corpus callosum |
OMIM:610498 |
Microcephaly 10, Primary, Autosomal Recessive |
|
Reduced cerebral white matter volume, Simplified gyral pattern, Cerebral atrophy, Cerebellar hemi... |
OMIM:615095 |
Amish Lethal Microcephaly |
|
Death in infancy, Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Optic atrophy, Lissen... |
ORPHA:99742 |
Autosomal Recessive Primary Microcephaly |
|
Pachygyria, Hypoplasia of the frontal lobes, Agenesis of corpus callosum, Microcephaly |
ORPHA:2512 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Neonatal respiratory distress, Microcephaly, Partial agenesis of the corpus callosum, Cerebral at... |
ORPHA:79243 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Respiratory distress, Cerebral calcification, 4-layered lissencephaly, Microlissencephaly, Hypopl... |
ORPHA:89844 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:1832 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hypoplasia of the corp... |
ORPHA:255138 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:300934 |
Glutathionuria |
|
Asthma, Agenesis of corpus callosum |
OMIM:231950 |
Foxg1 Syndrome |
|
Abnormal respiratory system physiology, Hypoplasia of the corpus callosum, Pachygyria, Agenesis o... |
ORPHA:561854 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Spinocerebellar Ataxia 23 |
|
Agenesis of corpus callosum |
OMIM:610245 |
Microcephaly 20, Primary, Autosomal Recessive |
|
Optic nerve hypoplasia, Microcephaly, Simplified gyral pattern, Microlissencephaly, Small cerebra... |
OMIM:617914 |
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity |
|
Microcephaly, Hypoplasia of the pons, Optic atrophy, Simplified gyral pattern, Cerebellar hypopla... |
OMIM:617669 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Microcephaly, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Basal g... |
OMIM:312170 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Holoprosencephaly 11 |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
OMIM:614226 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Occipital encephalocele, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivoponto... |
ORPHA:370959 |
Stt3B-Cdg |
|
Respiratory distress, Optic atrophy, Microcephaly |
ORPHA:370924 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Neonatal death, Pulmonary arterial hypert... |
OMIM:619751 |
Cortical Dysplasia, Complex, With Other Brain Malformations 12 |
|
Dysgenesis of the basal ganglia, Lissencephaly, Cerebellar hypoplasia, Death in childhood, Pachyg... |
OMIM:620316 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... |
ORPHA:1145 |
Fetal Akinesia, Respiratory Insufficiency, Microcephaly, Polymicrogyria, And Dysmorphic Facies |
|
Abnormal cortical gyration, Microcephaly, Aplasia/Hypoplasia of the pyramidal tract, Neonatal dea... |
OMIM:619602 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Death in infancy, Aganglionic megacolon, Microcephaly, Pachygyria, Agenesis of corpus callosum |
ORPHA:452 |
Neurodevelopmental Disorder With Seizures And Brain Abnormalities |
|
Microcephaly, Partial agenesis of the corpus callosum, Lateral ventricle dilatation, Death in chi... |
OMIM:619517 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Absent septum pellucidum, Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Agenesis of corp... |
ORPHA:2182 |
Folinic Acid-Responsive Seizures |
|
Frontotemporal cerebral atrophy, Apnea, Optic atrophy, Respiratory distress |
ORPHA:79097 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Oculocerebrocutaneous Syndrome |
|
Orbital encephalocele, Dandy-Walker malformation, Agenesis of corpus callosum, Hypoplasia of the ... |
OMIM:164180 |
Orofaciodigital Syndrome Xv |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
OMIM:617127 |
Craniosynostosis 3 |
|
Partial agenesis of the corpus callosum |
OMIM:615314 |
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities |
|
Abnormal globus pallidus morphology, Agenesis of corpus callosum, Hypoplasia of the corpus callos... |
OMIM:618603 |
Pontocerebellar Hypoplasia Type 2 |
|
Cerebellar vermis hypoplasia, Apnea, Abnormal cortical gyration, Dysplastic corpus callosum, Hypo... |
ORPHA:2524 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:254210 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12 |
|
Microcephaly, Respiratory insufficiency due to muscle weakness, Hydrocephalus, Progressive microc... |
OMIM:615249 |
Hydrolethalus Syndrome 2 |
|
Agenesis of corpus callosum, Hydrocephalus, Anencephaly |
OMIM:614120 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Peripheral axonal neuropathy, Axonal degeneration, Paradoxical respiration |
OMIM:620011 |
Combined Oxidative Phosphorylation Deficiency 54 |
|
Optic disc pallor, Dysplastic corpus callosum, Periventricular white matter hyperintensities, Sec... |
OMIM:619737 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Peripheral axonal neuropathy |
ORPHA:2596 |
Lissencephaly 6 With Microcephaly |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Microlissencepha... |
OMIM:616212 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3 |
|
Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Cerebral atrophy, Respiratory insuffici... |
OMIM:616900 |
Microcephaly 3, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Small cerebral c... |
OMIM:604804 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Encephalocele, Agyria, Hypoplasia of the pyramidal tract, Hydrocephalus, Optic atrophy, Respirato... |
OMIM:253800 |
Imagawa-Matsumoto Syndrome |
|
Polymicrogyria, Agenesis of corpus callosum |
OMIM:618786 |
Vici Syndrome |
|
Death in infancy, Hypoplasia of the pons, Optic atrophy, Cerebellar hypoplasia, Agenesis of corpu... |
ORPHA:1493 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
ORPHA:380 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Respiratory distress, Death in infancy, Polymicrogyria |
OMIM:616974 |
Joubert Syndrome With Renal Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Hydrocephalus, Polymic... |
ORPHA:220497 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Sudden episodic apnea, Ap... |
OMIM:605809 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Peripheral hypomyelination, Aspiration... |
OMIM:618733 |
Delpire-Mcneill Syndrome |
|
Cortical dysplasia, Agenesis of corpus callosum |
OMIM:619083 |
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618577 |
Neurodevelopmental Disorder With Brain Abnormalities, Poor Growth, And Dysmorphic Facies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:615286 |
Microhydranencephaly |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly, Pachygyria, Ag... |
OMIM:605013 |
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal |
|
Neonatal death, Dysplastic corpus callosum, Peripheral axonal neuropathy, Cerebellar hypoplasia |
OMIM:618810 |
Pontocerebellar Hypoplasia, Type 11 |
|
Microcephaly, Hypoplasia of the pons, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:617695 |
Subependymal Nodular Heterotopia |
|
Occipital encephalocele, Partial agenesis of the corpus callosum, Myelomeningocele, Meningocele, ... |
ORPHA:101030 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Encephalocele, Death in infancy, Dandy-Walker malformation, Optic nerve hypoplasia, Pachygyria, P... |
OMIM:614643 |
Grubben-De Cock-Borghgraef Syndrome |
|
Partial agenesis of the corpus callosum |
ORPHA:2101 |
Chiari Malformation Type Ii |
|
Spina bifida, Myelomeningocele, Hydrocephalus, Cervical myelopathy, Agenesis of corpus callosum, ... |
OMIM:207950 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Hydrocephalus, Agenesis of corpus callosum, Abnormal auditory evoked potentials |
OMIM:109120 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial palsy, Dyspnea, ... |
OMIM:211530 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Microcephaly, Hydrocephalus, Optic atrophy, Simplified gyral pattern... |
OMIM:615219 |
Microphthalmia, Syndromic 11 |
|
Agenesis of pineal gland, Agenesis of corpus callosum |
OMIM:614402 |
Fg Syndrome 3 |
|
Death in infancy, Agenesis of corpus callosum |
OMIM:300406 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Agenesis of corpus callosum, Optic atrophy, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616239 |
Developmental And Epileptic Encephalopathy 31B |
|
Reduced cerebral white matter volume, Optic atrophy, Colpocephaly, Secondary microcephaly, Agenes... |
OMIM:620352 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Corpus Callosum, Agenesis Of, With Abnormal Genitalia |
|
Agenesis of corpus callosum, Optic atrophy, Microcephaly |
OMIM:300004 |
Halperin-Birk Syndrome |
|
Optic atrophy, Colpocephaly, Death in childhood, Aspiration, Agenesis of corpus callosum, Semilob... |
OMIM:618651 |
Ring Chromosome 22 Syndrome |
|
Absent septum pellucidum, Microcephaly, Neurofibroma, Pleural effusion, Agenesis of corpus callosum |
ORPHA:1446 |
Baraitser-Winter Syndrome 2 |
|
Secondary microcephaly, Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:614583 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Agenesis of corpus callosum, Alobar holoprosencephaly |
OMIM:615433 |
Joubert Syndrome With Ocular Defect |
|
Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Apnea, Hydrocephalus, Polymic... |
ORPHA:220493 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Tachypnea, Optic atrophy, Respiratory insufficiency, Resp... |
OMIM:614299 |
Perching Syndrome |
|
Respiratory distress |
OMIM:617055 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cortical Dysplasia, Complex, With Other Brain Malformations 11 |
|
Schizencephaly, Reduced cerebral white matter volume, Hydrocephalus, Cerebral atrophy, Colpocepha... |
OMIM:620156 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Agenesis of corpus callosum, Holoprosencephaly, Tracheomalacia |
OMIM:202650 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619989 |
Curry-Jones Syndrome |
|
Optic disc coloboma, Agenesis of corpus callosum |
ORPHA:1553 |
Craniosynostosis 6 |
|
Microcephaly, Lateral ventricle dilatation, Spina bifida occulta, Agenesis of corpus callosum, Da... |
OMIM:616602 |
Cerebrooculofacioskeletal Syndrome 1 |
|
Diffuse cerebral atrophy, Microcephaly, Basal ganglia calcification, Recurrent pneumonia, Cerebel... |
OMIM:214150 |
Autosomal Recessive Cerebellar Ataxia Due To Cwf19L1 Deficiency |
|
Cerebellar vermis hypoplasia, Agenesis of corpus callosum |
ORPHA:453521 |
Walker-Warburg Syndrome |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Hydrocephalus, Optic atrophy,... |
ORPHA:899 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Progressive microcephaly |
OMIM:614741 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Cerebellar Ataxia |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Aplasia/Hypoplasia of the ... |
OMIM:616819 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Optic atrophy, Hypoplastic an... |
OMIM:616975 |
Birk-Landau-Perez Syndrome |
|
Neonatal respiratory distress, Microcephaly, Optic atrophy, Pachygyria, Agenesis of corpus callosum |
OMIM:617595 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Cough, Pleural effusion |
ORPHA:50251 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Proliferative Vasculopathy And Hydranencephaly-Hydrocephaly Syndrome |
|
Microcephaly, Hydrocephalus, Hypoplasia of the brainstem, Cerebellar hypoplasia, Hydranencephaly,... |
OMIM:225790 |
Gaucher Disease Type 2 |
|
Respiratory distress, Abnormal pattern of respiration, Cough |
ORPHA:77260 |
Joubert Syndrome 18 |
|
Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
OMIM:614815 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Cerebral white matter atrophy, Optic atrophy, Cerebellar hypoplasia, Abnorm... |
ORPHA:329178 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Respiratory distress, Death in infancy, Neuronal loss in basal ganglia, Cerebral atrophy, Basal g... |
OMIM:604377 |
Maternal Uniparental Disomy Of Chromosome X |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261519 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Respiratory distress, Peripheral demyelination |
OMIM:616733 |
Frontonasal Dysplasia 1 |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum, Anterior basal enceph... |
OMIM:136760 |
Corpus Callosum Agenesis-Neuronopathy Syndrome |
|
Aqueductal stenosis, Agenesis of corpus callosum, Microcephaly |
ORPHA:1496 |
6Q25 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:251056 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress |
OMIM:615993 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Even-Plus Syndrome |
|
Dysplastic corpus callosum, Agenesis of corpus callosum |
OMIM:616854 |
Severe Intellectual Disability-Corpus Callosum Agenesis-Facial Dysmorphism-Cerebellar Ataxia Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Agenesis of corpus callosum, Primary microcephaly |
ORPHA:466688 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress |
OMIM:613642 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Cerebral calcification, Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Hyperintensity of ce... |
OMIM:618476 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia, Cerebral atrophy |
OMIM:160900 |
Hogue-Janssen Syndrome 2 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:616362 |
Craniofacial Dyssynostosis With Short Stature |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:218350 |
Frontonasal Dysplasia-Bifid Nose-Upper Limb Anomalies Syndrome |
|
Frontal encephalocele, Agenesis of corpus callosum |
ORPHA:521308 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Sinusitis, Abnormal fifth cranial nerve morphology, Abnormality of infra-orbital nerve |
ORPHA:449563 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... |
ORPHA:254875 |
Developmental And Epileptic Encephalopathy 49 |
|
Cerebral calcification, Cerebellar vermis hypoplasia, Microcephaly, Basal ganglia calcification, ... |
OMIM:617281 |
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Lissencephaly, Microcephaly |
OMIM:618142 |
Lissencephaly, X-Linked, 2 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly |
OMIM:300215 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Respiratory distress, Optic atrophy, Secondary microcephaly |
OMIM:608799 |
Greig Cephalopolysyndactyly Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum |
OMIM:175700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Agenesis of corpus callosum |
ORPHA:93267 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Communicating hydrocephalus, Occipital encephalocele, Agenesis of cerebellar vermis, Absent septu... |
OMIM:615287 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Isolated Atp Synthase Deficiency |
|
Respiratory distress, Optic atrophy, Cerebral cortical atrophy, Microcephaly |
ORPHA:254913 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Septo-Optic Dysplasia Spectrum |
|
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Aplasia/Hypoplasia of th... |
ORPHA:3157 |
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity |
|
Partial agenesis of the corpus callosum, Optic nerve dysplasia, Cerebral atrophy, Lateral ventric... |
OMIM:617296 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness, Optic atrophy, Leukoencep... |
OMIM:220110 |
Fanconi Anemia, Complementation Group I |
|
Absent septum pellucidum, Optic nerve hypoplasia, Microcephaly, Colpocephaly, Agenesis of corpus ... |
OMIM:609053 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Optic atrophy |
ORPHA:289916 |
Stromme Syndrome |
|
Cerebellar vermis hypoplasia, Optic nerve hypoplasia, Microcephaly, Hydrocephalus, Stillbirth, Ce... |
OMIM:243605 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Dyspnea, Cough, Microcephaly |
ORPHA:86812 |
Corpus Callosum Agenesis-Intellectual Disability-Coloboma-Micrognathia Syndrome |
|
Optic disc coloboma, Agenesis of corpus callosum |
ORPHA:52055 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Simplified gyral pattern,... |
OMIM:620001 |
Al-Gazali-Bakalinova Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:607131 |
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency |
|
Agenesis of corpus callosum |
OMIM:250620 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Cerebellar vermis hypoplasia, Optic atrophy, Hypoplasia of the corpus callo... |
OMIM:619383 |
Mitochondrial Complex I Deficiency, Nuclear Type 39 |
|
Dysplastic corpus callosum |
OMIM:620135 |
Tetraamelia-Multiple Malformations Syndrome |
|
Agenesis of corpus callosum, Septo-optic dysplasia, Optic atrophy, Hydrocephalus |
ORPHA:3301 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Microcephaly, Corpus callosum atrophy, Simplified gyral pattern, Cerebral atrophy, Leukoencephalo... |
OMIM:619244 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
|
Optic disc coloboma, Agenesis of corpus callosum, Recurrent aspiration pneumonia, Recurrent pneum... |
OMIM:300472 |
Trichothiodystrophy 4, Nonphotosensitive |
|
Partial agenesis of the corpus callosum, Optic atrophy, Cerebral cortical atrophy, Microcephaly |
OMIM:234050 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy |
ORPHA:79312 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1 |
|
Death in childhood, Dysplastic corpus callosum, Microcephaly |
OMIM:604273 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ventilator dependence w... |
ORPHA:254864 |
Combined Oxidative Phosphorylation Deficiency 53 |
|
Dysplastic corpus callosum, Secondary microcephaly, Death in infancy, Death in childhood |
OMIM:619423 |
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus |
|
Partial agenesis of the corpus callosum, Thin corpus callosum |
OMIM:619653 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Death in infancy, Respiratory insufficiency due to muscl... |
OMIM:615512 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Occipital encephalocele, Dandy-Walker malformation, Optic nerve hypoplasia, Microcephaly, Pachygy... |
OMIM:236670 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Microcephaly, Dyspnea, Optic atrophy, Respiratory failure |
ORPHA:2707 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, H... |
ORPHA:206436 |
4Q21 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:238750 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Respiratory distress, Microcephaly, Corpus callosum atrophy, Cerebral atrophy, Pulmonary arterial... |
OMIM:619272 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Optic disc pallor, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the pons, Olivopontocerebe... |
ORPHA:468631 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Megalencephaly, Hydrocephalus, Respiratory failure, Hypoplas... |
OMIM:616482 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress |
ORPHA:91130 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Probst bundles, Hydrocephalus, Lateral ventricle dilatation, Agenesis of co... |
OMIM:612863 |
Intellectual Developmental Disorder, Autosomal Dominant 65 |
|
Agenesis of corpus callosum, Noncommunicating hydrocephalus |
OMIM:619320 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Cerebral cortical atrophy, Microcephaly |
OMIM:618201 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tac... |
ORPHA:454836 |
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Hypoplasia of the corpus callosum, A... |
OMIM:301056 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Death in infancy, Microcephaly, Hydrocephalus, Partial absence of cerebellar vermi... |
OMIM:613150 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Hydrocephalus, Cough, Pleural effusion, Cerebral cortic... |
ORPHA:1546 |
Meckel Syndrome 12 |
|
Agenesis of cerebellar vermis, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, ... |
OMIM:616258 |
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy |
|
Hypoplasia of the brainstem, Global brain atrophy, Hypoplasia of the corpus callosum, Hyperintens... |
ORPHA:481152 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Cleft Palate, Proliferative Retinopathy, And Developmental Delay |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum, Cerebellar vermis hypoplasia |
OMIM:619074 |
Acromelic Frontonasal Dysostosis |
|
Tubulonodular pericallosal lipoma, Encephalocele, Optic nerve hypoplasia, Upper airway obstructio... |
OMIM:603671 |
Hydrolethalus |
|
Anencephaly, Hydrocephalus, Agenesis of corpus callosum, Absent septum pellucidum |
ORPHA:2189 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome |
|
Encephalocele, Agenesis of cerebellar vermis, Agenesis of corpus callosum |
ORPHA:228390 |
Mercury Poisoning |
|
Respiratory distress, Dyspnea, Abnormal cerebral white matter morphology, Respiratory failure, In... |
ORPHA:330021 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
OMIM:613561 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Microcephaly |
ORPHA:261304 |
Temtamy Syndrome |
|
Agenesis of corpus callosum, Thick corpus callosum |
OMIM:218340 |
Diaphanospondylodysostosis |
|
Respiratory distress, Myelomeningocele |
ORPHA:66637 |
Encephalocraniocutaneous Lipomatosis |
|
Cortical dysplasia, Porencephalic cyst, Hydrocephalus, Cerebellar hypoplasia, Hypoplasia of the c... |
OMIM:613001 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Intracerebral periventricular calcifications, Neonatal respiratory distress, Ap... |
OMIM:608836 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Apert Syndrome |
|
Absent septum pellucidum, Hydrocephalus, Optic atrophy, Respiratory insufficiency, Agenesis of co... |
ORPHA:87 |
Weiss-Kruszka Syndrome |
|
Colpocephaly, Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618619 |
Tetanus |
|
Respiratory distress, Tachypnea, Abnormal autonomic nervous system physiology, Autonomic bladder ... |
ORPHA:3299 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Neonatal respiratory distress, Cerebral calcification, Cerebellar vermis hypoplasia, Hydrocephalu... |
ORPHA:157 |
Toriello-Carey Syndrome |
|
Neonatal respiratory distress, Aganglionic megacolon, Microcephaly, Partial agenesis of the corpu... |
ORPHA:3338 |
Baraitser-Winter Syndrome 1 |
|
Pachygyria, Agenesis of corpus callosum, Lissencephaly, Microcephaly |
OMIM:243310 |
Bohring-Opitz Syndrome |
|
Neonatal respiratory distress, Delayed peripheral myelination, Microcephaly, Hypoplasia of the br... |
OMIM:605039 |
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome |
|
Multifocal hyperintensity of cerebral white matter on MRI, Dysplastic corpus callosum, Multifocal... |
ORPHA:488627 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Hypoplasia ... |
OMIM:616449 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Braddock-Carey Syndrome 1 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619980 |
Leigh Syndrome |
|
Abnormal basal ganglia MRI signal intensity, Neuronal loss in basal ganglia, Diffuse spongiform l... |
ORPHA:506 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Respiratory distress, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:544503 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Cerebellar hypoplasia, Tracheo... |
OMIM:217980 |
Fumarase Deficiency |
|
Microcephaly, Optic atrophy, Cerebral atrophy, Hypoplasia of the brainstem, Lissencephaly, Polymi... |
OMIM:606812 |
Acromelic Frontonasal Dysplasia |
|
Encephalocele, Meningocele, Upper airway obstruction, Hypoplasia of the olfactory bulb, Agenesis ... |
ORPHA:1827 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress |
ORPHA:240085 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Respiratory distress, Agenesis of corpus callosum, Hydrocephalus, Optic atrophy |
OMIM:123790 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia |
ORPHA:596 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Crackles, Asthma, Tachypnea, Wheezing, Hypox... |
OMIM:610978 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Hypoplasia of the corpus callosum |
OMIM:617102 |
Microcephaly 26, Primary, Autosomal Dominant |
|
Microcephaly, Dysplastic corpus callosum, Recurrent pneumonia, Simplified gyral pattern, Hypoplas... |
OMIM:619179 |
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities |
|
Secondary microcephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hypoplasia of ... |
OMIM:620073 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Hypoventilation, Apnea, Optic atrophy,... |
ORPHA:79330 |
Immunodeficiency 49 |
|
Agenesis of corpus callosum, Eosinophilia, Reduced cerebral white matter volume |
OMIM:617237 |
Alexander Disease |
|
Cerebral calcification, Facial palsy, Megalencephaly, Aqueductal stenosis, Hydrocephalus, Respira... |
ORPHA:58 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Hypoventilation, Neonatal respiratory distress, Facial palsy, Decreased siz... |
ORPHA:98915 |
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome |
|
Hydrocephalus, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:459061 |
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum |
OMIM:620250 |
Hypogonadotropic Hypogonadism 2 With Or Without Anosmia |
|
Agenesis of corpus callosum |
OMIM:147950 |
Moebius Syndrome |
|
Respiratory distress, Facial diplegia, Hypoplasia of the brainstem |
OMIM:157900 |
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1 |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral cortical atrophy, Agenesis of corpus callosu... |
OMIM:619720 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells, Respiratory distress |
OMIM:271225 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Microcephaly, Spina bifida occulta, Small cerebral cortex, Hypoplasia of the corpus callosum, Per... |
OMIM:617360 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Abnormal substantia nigra morpho... |
ORPHA:79139 |
Emanuel Syndrome |
|
Microcephaly, Hydrocephalus, Cerebral atrophy, Abnormal cerebral white matter morphology, Cough, ... |
ORPHA:96170 |
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:77298 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Respiratory insufficiency due to muscle weakness |
ORPHA:1143 |
Autosomal Recessive Cutis Laxa Type 2A |
|
Thick cerebral cortex, Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Secondary microc... |
ORPHA:357058 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Microcephaly 13, Primary, Autosomal Recessive |
|
Microcephaly, Partial agenesis of the corpus callosum, Simplified gyral pattern, Cerebellar hypop... |
OMIM:616051 |
1Q44 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:238769 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress |
OMIM:612075 |
Brain Malformations With Or Without Urinary Tract Defects |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:613735 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Stridor, Cough |
ORPHA:142 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Dysplastic corpus callosum, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Leuko... |
OMIM:614924 |
Orofaciodigital Syndrome V |
|
Agenesis of corpus callosum, Optic disc coloboma, Aganglionic megacolon, Microcephaly |
OMIM:174300 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress |
ORPHA:1423 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261144 |
Marden-Walker Syndrome |
|
Microcephaly, Hypoplasia of the brainstem, Cerebellar hypoplasia, Inferior cerebellar vermis hypo... |
OMIM:248700 |
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 |
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome |
|
Death in infancy, Aganglionic megacolon, Microcephaly, Optic atrophy, Agenesis of corpus callosum... |
ORPHA:847 |
Microphthalmia With Brain And Digit Anomalies |
|
Inferior cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
ORPHA:139471 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Intracerebral periventricular calcifications, Cerebral calcification, Neonatal respiratory distre... |
ORPHA:228308 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Facial palsy, Hypercapnia, Reduced forced vital capacity, Respiratory insuf... |
OMIM:164310 |
Chromosome 14Q11-Q22 Deletion Syndrome |
|
Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Pachygyria, Agenesis of corpus ca... |
OMIM:613457 |
Chromosome 5P13 Duplication Syndrome |
|
Agenesis of corpus callosum |
OMIM:613174 |
Cutis Laxa, Autosomal Recessive, Type Iib |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
OMIM:612940 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
|
Cerebellar vermis hypoplasia, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, ... |
OMIM:615802 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Cerebral calcification, Microcephaly, Recurrent pneumonia, Optic atrophy, D... |
OMIM:617303 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Asthma, Recurrent pneumonia, P... |
ORPHA:209905 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress |
ORPHA:240103 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Coffin-Siris Syndrome 11 |
|
Agenesis of corpus callosum |
OMIM:618779 |
Cerebrofacioarticular Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Dysplastic corpus callosum, Hypoplasia of the corpus ... |
ORPHA:314679 |
Orofaciodigital Syndrome Type 5 |
|
Agenesis of corpus callosum, Aganglionic megacolon, Microcephaly |
ORPHA:2919 |
Oculoskeletodental Syndrome |
|
Dysplastic corpus callosum, Focal white matter lesions |
ORPHA:557003 |
Holoprosencephaly 13, X-Linked |
|
Septo-optic dysplasia, Optic nerve hypoplasia, Alobar holoprosencephaly, Microcephaly, Colpocepha... |
OMIM:301043 |
Microform Holoprosencephaly |
|
Asthma, Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
ORPHA:280200 |
Desmosterolosis |
|
Absent septum pellucidum, Abnormal cortical gyration, Microcephaly, Pachygyria, Hydrocephalus, Ma... |
ORPHA:35107 |
Chromosome 6Pter-P24 Deletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:612582 |
Nipah Virus Disease |
|
Respiratory distress, Cough |
ORPHA:99825 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Focal polymicrogyria, Microc... |
OMIM:619103 |
Ritscher-Schinzel Syndrome 4 |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
OMIM:619435 |
Nizon-Isidor Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618872 |
Trisomy 1Q |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebellar hypoplasia |
ORPHA:261344 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy |
ORPHA:166272 |
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome |
|
Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, Hydrocephalus, Hypoplasia of the corpus ... |
ORPHA:457284 |
Melas |
|
Peripheral axonal neuropathy, Aplasia/Hypoplasia of the cerebral white matter, Basal ganglia calc... |
ORPHA:550 |
Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Death in infancy, Optic nerve dysplasia, Optic atrophy, Macrogyria, Death in adolescence, Colpoce... |
OMIM:614866 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Optic neuropathy, Myelopathy, Optic atrophy, Hyperventilation |
ORPHA:79241 |
Marshall-Smith Syndrome |
|
Apnea, Optic nerve hypoplasia, Absent septum pellucidum, Hydrocephalus, Cerebral atrophy, Macrogy... |
OMIM:602535 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Microcephaly |
ORPHA:927 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy, Agenesis of corpus callosum |
ORPHA:261476 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Hypoplasia of the corpus callosum, Microce... |
ORPHA:2519 |
Kleefstra Syndrome Due To 9Q34 Microdeletion |
|
Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cerebral cortical hemiatrop... |
ORPHA:96147 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum |
OMIM:618109 |
Global Developmental Delay, Absent Or Hypoplastic Corpus Callosum, And Dysmorphic Facies |
|
Microcephaly, Respiratory insufficiency, Colpocephaly, Hypoplasia of the corpus callosum, Agenesi... |
OMIM:617260 |
Holoprosencephaly 12 With Or Without Pancreatic Agenesis |
|
Absent septum pellucidum, Microcephaly, Lobar holoprosencephaly, Hypoplasia of the corpus callosu... |
OMIM:618500 |
Intellectual Developmental Disorder, Autosomal Dominant 22 |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:612337 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Microcephaly, Cereb... |
OMIM:618426 |
Donnai-Barrow Syndrome |
|
Partial agenesis of the corpus callosum, Agenesis of corpus callosum, Aplasia/Hypoplasia of the c... |
OMIM:222448 |
Intellectual Disability-Strabismus Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
ORPHA:363528 |
Pseudotrisomy 13 Syndrome |
|
Encephalocele, Microcephaly, Hydrocephalus, Holoprosencephaly, Cerebellar hypoplasia, Polymicrogy... |
OMIM:264480 |
Radio-Tartaglia Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:619312 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Aicardi Syndrome |
|
Cerebellar vermis hypoplasia, Spina bifida, Microcephaly, Partial agenesis of the corpus callosum... |
OMIM:304050 |
Histiocytoid Cardiomyopathy |
|
Hydrocephalus, Tachypnea, Optic atrophy, Cough, Agenesis of corpus callosum |
ORPHA:137675 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Microcephaly, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of the corpus callosu... |
OMIM:619512 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Neonatal death |
OMIM:300219 |
Curry-Jones Syndrome |
|
Megalencephaly, Lipomyelomeningocele, Hemimegalencephaly, Occipital meningocele, Polymicrogyria, ... |
OMIM:601707 |
Kapur-Toriello Syndrome |
|
Dysplastic corpus callosum, Pachygyria, Polymicrogyria |
ORPHA:2328 |
Pancreatic Agenesis-Holoprosencephaly Syndrome |
|
Hypoxemia, Agenesis of corpus callosum, Holoprosencephaly, Semilobar holoprosencephaly |
ORPHA:556955 |
Genitopatellar Syndrome |
|
Agenesis of corpus callosum, Apnea, Microcephaly |
ORPHA:85201 |
Congenital Disorder Of Deglycosylation 2 |
|
Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, Polymicrogyria, Thin corpu... |
OMIM:619775 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Microcephaly, Pulmonary embolism, Hydrocephalus, Optic atrophy, Cerebral at... |
ORPHA:79282 |
Tetrasomy 5P |
|
Respiratory distress, Pericallosal lipoma, Hydrocephalus, Cerebellar hypoplasia, Pulmonary arteri... |
ORPHA:3309 |
Microlissencephaly-Micromelia Syndrome |
|
Respiratory distress, Lissencephaly, Cerebellar hypoplasia, Secondary microcephaly |
ORPHA:50810 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress, Abnormal globus pallidus morphology |
OMIM:251000 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Dysplastic corpus callosum, Asthma, Periventricular cysts, Thick corpus callosum, Lateral ventric... |
ORPHA:544488 |
Pyruvate Carboxylase Deficiency |
|
Cerebral white matter atrophy, Tachypnea, Periventricular cysts, Increased caudate lactate level,... |
ORPHA:3008 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Optic nerve hypoplasia, Microcephaly, Hypoplasia of the corpus callosum, Age... |
OMIM:206900 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:1812 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Microcephaly, Recurrent pneumonia, Cerebral atrophy, Pulmonary arterial hypertension, Lateral ven... |
ORPHA:464738 |
Toriello-Lacassie-Droste Syndrome |
|
Agenesis of corpus callosum, Aganglionic megacolon, Absent septum pellucidum |
ORPHA:3339 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Agenesis of cerebellar vermis, Aganglionic megacolon, Focal hypointensity of cerebral white matte... |
ORPHA:261552 |
Bohring-Opitz Syndrome |
|
Apnea, Microcephaly, Optic atrophy, Hypoplasia of the corpus callosum, Agenesis of corpus callosu... |
ORPHA:97297 |
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome |
|
Agenesis of corpus callosum |
OMIM:618929 |
Monosomy 13Q34 |
|
Agenesis of corpus callosum, Epistaxis, Microcephaly |
ORPHA:96168 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Cardiorespiratory arrest, Respiratory insufficiency, Cerebellar hypoplasia, Pachygyria, Agenesis ... |
ORPHA:93317 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Hypoxemia |
ORPHA:2140 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
Kleefstra Syndrome |
|
Microcephaly, Dyspnea, Tracheomalacia, Agenesis of corpus callosum, Cerebral cortical atrophy |
ORPHA:261494 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Microcephaly, Hypodysplasia of the corpus callosum, Hydrocephalus, Cerebellar hypoplasia, Dandy-W... |
OMIM:257300 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Multifocal hyperintensity of cerebral white matter on MRI, Respiratory failure requiring assisted... |
ORPHA:308552 |
Isolated Exencephaly |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Holoprosencephaly |
ORPHA:563612 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Chromosome 13Q33-Q34 Deletion Syndrome |
|
Encephalocele, Microcephaly, Anencephaly, Agenesis of corpus callosum, Dandy-Walker malformation |
OMIM:619148 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Pachygyria, Neonatal death |
OMIM:231680 |
16P13.11 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Holoprosencephaly, Microcephaly |
ORPHA:261236 |
Fryns Syndrome |
|
Agenesis of corpus callosum, Aganglionic megacolon, Cerebral cortical atrophy, Dandy-Walker malfo... |
ORPHA:2059 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Hydrocephalus, Optic atrophy |
ORPHA:1555 |
Mismatch Repair Cancer Syndrome 1 |
|
Agenesis of corpus callosum, Plexiform neurofibroma |
OMIM:276300 |
Opitz Gbbb Syndrome |
|
Aspiration, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:300000 |
Achondroplasia |
|
Respiratory distress, Death in infancy, Megalencephaly, Hydrocephalus, Upper airway obstruction |
OMIM:100800 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Death in infancy |
OMIM:184260 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Segmental peripheral demyelination/remyelination, Dyspnea, Episodic respiratory distress, ... |
ORPHA:255210 |
Duplication Of The Pituitary Gland |
|
Encephalocele, Hypoplasia of olfactory tract, Agenesis of corpus callosum, Microcephaly |
ORPHA:314621 |
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Optic nerve hypoplasia, Facial palsy, Microcephaly, Spina bifida, Abnormal optic disc morphology,... |
ORPHA:508498 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Respiratory failure |
OMIM:620166 |
Craniofaciofrontodigital Syndrome |
|
Hyperintensity of cerebral white matter on MRI, Dyspnea, Respiratory distress, Pulmonary arterial... |
ORPHA:363705 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Respiratory distress, Cerebral calcification, Hydrocephalus, Optic atrophy, Stridor, Pulmonary ar... |
ORPHA:505248 |
Aicardi Syndrome |
|
Microcephaly, Partial agenesis of the corpus callosum, Optic disc coloboma, Optic atrophy, Aplasi... |
ORPHA:50 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Endocrine-Cerebroosteodysplasia |
|
Absent septum pellucidum, Focal polymicrogyria, Hydrocephalus, Holoprosencephaly, Aplasia/Hypopla... |
OMIM:612651 |
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 |
Holoprosencephaly 14 |
|
Absent septum pellucidum, Alobar holoprosencephaly, Aqueductal stenosis, Microcephaly, Partial ag... |
OMIM:619895 |
Semilobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Microcephaly, Hydrocephalus, Neural tube defect, Aspiration pneumonia, Abnormality... |
ORPHA:93924 |
Thakker-Donnai Syndrome |
|
Communicating hydrocephalus, Agenesis of corpus callosum |
ORPHA:1780 |
Chitayat Syndrome |
|
Respiratory distress, Tracheomalacia |
OMIM:617180 |
Diaphanospondylodysostosis |
|
Respiratory distress, Polymicrogyria, Tracheomalacia, Respiratory insufficiency |
OMIM:608022 |
Mosaic Trisomy 1 |
|
Cerebellar vermis hypoplasia, Lateral ventricle dilatation, Cerebellar hypoplasia, Polymicrogyria... |
ORPHA:1692 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Tracheomalacia, Chronic sinusitis, Abnormal nasal... |
ORPHA:137914 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Neonatal death, Microcephaly |
OMIM:608013 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress |
OMIM:212140 |
Mycophenolate Mofetil Embryopathy |
|
Tracheomalacia, Hydrocephalus, Agenesis of corpus callosum |
ORPHA:268249 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Primar... |
ORPHA:1051 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
Osteopathia Striata With Cranial Sclerosis |
|
Apnea, Facial palsy, Partial agenesis of the corpus callosum, Hydrocephalus, Tracheomalacia, Spin... |
OMIM:300373 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Agenesis of corpus callosum |
OMIM:309520 |
Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lateral ventricle dilatation, Agenesis of corpus callosum |
OMIM:300952 |
15Q Overgrowth Syndrome |
|
Pulmonary arterial hypertension, Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malform... |
ORPHA:314585 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea |
ORPHA:79242 |
Desmosterolosis |
|
Partial agenesis of the corpus callosum, Microcephaly, Hydrocephalus, Aplasia/Hypoplasia of the c... |
OMIM:602398 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Abnormal neuron branching, Respiratory insufficiency |
ORPHA:367 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly |
|
Dysplastic corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:618569 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Death in infancy, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Abnormal cortical ... |
OMIM:210710 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Agenesis of corpus callosum |
ORPHA:264200 |
Encephalocraniocutaneous Lipomatosis |
|
Cerebral calcification, Absent septum pellucidum, Cerebral atrophy, Subcortical cerebral atrophy,... |
ORPHA:2396 |
Opitz Gbbb Syndrome |
|
Microcephaly, Aplasia/Hypoplasia of the cerebellar vermis, Stridor, Agenesis of corpus callosum, ... |
ORPHA:2745 |
Phace Syndrome |
|
Optic nerve hypoplasia, Microcephaly, Cerebellar hypoplasia, Agenesis of corpus callosum, Dandy-W... |
ORPHA:42775 |
Episodic Ataxia Type 1 |
|
Respiratory distress |
ORPHA:37612 |
3-Methylglutaconic Aciduria, Type Viib |
|
Respiratory distress, Recurrent pneumonia, Cerebral atrophy, Microcephaly |
OMIM:616271 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Abnormal cortical gyration, Cerebellar hypoplasia, Hypoplasia of the corpus... |
OMIM:300968 |
Neurooculorenal Syndrome |
|
Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Partial agenesis of th... |
OMIM:620305 |
Holoprosencephaly 9 |
|
Abnormal cortical gyration, Optic nerve hypoplasia, Microcephaly, Partial agenesis of the corpus ... |
OMIM:610829 |
Orofaciodigital Syndrome Vi |
|
Cerebellar vermis hypoplasia, Porencephalic cyst, Occipital meningocele, Polymicrogyria, Agenesis... |
OMIM:277170 |
1Q21.1 Microdeletion Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Microcephaly |
ORPHA:250989 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
8P Inverted Duplication/Deletion Syndrome |
|
Agenesis of corpus callosum, Cerebellar hypoplasia, Dandy-Walker malformation |
ORPHA:96092 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Recurrent pneumonia, Progressive microcephaly |
OMIM:607143 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Respiratory distress, Pneumothorax, Cerebral atrophy |
OMIM:620306 |
Holoprosencephaly 7 |
|
Alobar holoprosencephaly, Microcephaly, Partial agenesis of the corpus callosum, Hydrocephalus, L... |
OMIM:610828 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Progressive microcephaly, Microcephaly |
OMIM:610536 |
Sotos Syndrome |
|
Cavum septum pellucidum, Partial agenesis of the corpus callosum |
OMIM:117550 |
21Q22.11Q22.12 Microdeletion Syndrome |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261323 |
Orofaciodigital Syndrome Xiv |
|
Occipital encephalocele, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corp... |
OMIM:615948 |
Fryns Syndrome |
|
Aganglionic megacolon, Hypoplasia of the optic tract, Stillbirth, Hypoplasia of olfactory tract, ... |
OMIM:229850 |
Structural Heart Defects And Renal Anomalies Syndrome |
|
Death in infancy, Partial agenesis of the corpus callosum, Microcephaly |
OMIM:617478 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress |
ORPHA:226313 |
Cono-Spondylar Dysplasia |
|
Partial agenesis of the corpus callosum |
ORPHA:420794 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Colpocephaly, Agenesis of corpus callosum |
OMIM:309801 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Absent septum pellucidum, Dysplastic corpus callosum, Colpocephaly, Secondary microcephaly, Holop... |
OMIM:618820 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Heterotaxy, Visceral, 2, Autosomal |
|
Agenesis of corpus callosum, Microcephaly |
OMIM:605376 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Microcephaly, Nocturnal hypoventilation, Hypoplasia of the corpus callosu... |
ORPHA:453504 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Stillbirth |
OMIM:151210 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Microcephaly, Nocturnal hypoventilation, Hypoplasia of the corpus callosu... |
ORPHA:352665 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
|
Unilateral facial palsy, Partial agenesis of the corpus callosum, Thin corpus callosum, Spina bifida |
OMIM:619480 |
Ethylene Glycol Poisoning |
|
Facial palsy, Tachypnea, Episodic respiratory distress, Abnormal pattern of respiration, Cerebral... |
ORPHA:31826 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Hydrocephalus, Absent septum pellucidum, Agenesis of corpus callosum, Facial palsy |
ORPHA:2658 |
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome |
|
Dysplastic corpus callosum |
ORPHA:363444 |
Apert Syndrome |
|
Absent septum pellucidum, Megalencephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpu... |
OMIM:101200 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Stridor |
OMIM:615595 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Microcephaly |
ORPHA:438216 |
Mosaic Trisomy 8 |
|
Agenesis of corpus callosum |
ORPHA:96061 |
Trichothiodystrophy |
|
Cerebral dysmyelination, Microcephaly, Partial agenesis of the corpus callosum, Bronchospasm, Per... |
ORPHA:33364 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Repeated pneumothoraces, Hydrocephalus, Respiratory insufficiency, Restrict... |
ORPHA:536467 |
Restrictive Dermopathy 2 |
|
Respiratory distress |
OMIM:619793 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Death in infancy, Respiratory failure, Chylothorax, Death in childhood |
OMIM:620278 |
Right Atrial Isomerism |
|
Agenesis of corpus callosum |
OMIM:208530 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Microcephaly, Dysplastic corpus callosum, Spina bifida occulta, Agenesis of corpus callosum, Cere... |
OMIM:151050 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Microcephaly, Myelomeningocele, Porencephalic cyst, Hydrocephalus, Ce... |
OMIM:311200 |
Acrocallosal Syndrome |
|
Agenesis of corpus callosum, Optic atrophy, Aplasia/Hypoplasia of the corpus callosum |
OMIM:200990 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Respiratory distress, Diffuse leukoenceph... |
OMIM:256810 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Cortical dysplasia, Noncommunicating hydrocepha... |
ORPHA:805 |
Hartsfield Syndrome |
|
Alobar holoprosencephaly, Microcephaly, Lobar holoprosencephaly, Agenesis of corpus callosum, Sem... |
OMIM:615465 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Hypoplasia of the corpus callosum, Trac... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Spina bifida, Microcephaly, Hydrocephalus, Optic atrophy, Hypoplasia of the corpus callosum, Trac... |
ORPHA:363958 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Tachypnea, Pneumonia, Episodic tachypnea |
ORPHA:26793 |
Kniest Dysplasia |
|
Respiratory distress, Tracheomalacia |
OMIM:156550 |
Fanconi Anemia, Complementation Group D2 |
|
Hydrocephalus, Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:227646 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Respiratory insufficiency due to muscle weakness, Respiratory in... |
ORPHA:365 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Abnormal basal ganglia MRI signal intensity, Respiratory distress, Apnea, Microcephaly, Leukoence... |
ORPHA:17 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Hydrocephalus, Aqueductal stenosis, Tracheomalacia |
ORPHA:93259 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Crackles, Nonproductive cough, Rhinitis, Cerebral edema |
ORPHA:319213 |
Craniofrontonasal Syndrome |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:304110 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Aspiration, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:2131 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Absent septum pellucidum, Microcephaly, Dyspnea, Hydrocephalus, Respiratory... |
ORPHA:2556 |
Adnp Syndrome |
|
Respiratory distress, Microcephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Aspirati... |
ORPHA:404448 |
Combined Pituitary Hormone Deficiencies, Genetic Forms |
|
Septo-optic dysplasia, Absent septum pellucidum, Optic nerve hypoplasia, Holoprosencephaly, Agene... |
ORPHA:95494 |
Marden-Walker Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Cerebellar hypoplasia, Agenesis of corpus ... |
ORPHA:2461 |
Wolf-Hirschhorn Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Agenesis of corpus callosum, Optic atrophy, Microcephaly |
ORPHA:280 |
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function |
|
Agenesis of corpus callosum, Optic nerve hypoplasia |
ORPHA:226307 |
Chromosome 13Q14 Deletion Syndrome |
|
Holoprosencephaly, Agenesis of corpus callosum, Absent septum pellucidum, Hypoplasia of the corpu... |
OMIM:613884 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress |
ORPHA:98805 |
Congenital Alveolar Capillary Dysplasia |
|
Respiratory distress, Pulmonary arterial hypertension, Aganglionic megacolon |
ORPHA:210122 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Agenesis of corpus callosum |
OMIM:613091 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress |
OMIM:606164 |
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2 |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum, Microcephaly |
OMIM:619418 |
Vici Syndrome |
|
Schizencephaly, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Microcephaly |
OMIM:242840 |
Zttk Syndrome |
|
Dysplastic corpus callosum, Optic atrophy, Abnormal cerebral white matter morphology, Cerebellar ... |
OMIM:617140 |
Jacobsen Syndrome |
|
Death in infancy, Spina bifida, Cerebral atrophy, Pachygyria, Agenesis of corpus callosum |
ORPHA:2308 |
Spondyloepiphyseal Dysplasia Congenita |
|
Respiratory distress, Restrictive ventilatory defect, Cervical myelopathy |
OMIM:183900 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Recurrent pneumonia, Chronic lung disease, Death in childhood |
OMIM:613848 |
Oromandibular Dystonia |
|
Respiratory distress |
ORPHA:93958 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Pleural effusion, Leukoencephalopathy |
OMIM:620369 |
Neu-Laxova Syndrome 1 |
|
Spina bifida, Stillbirth, Lissencephaly, Neonatal death, Cerebellar hypoplasia, Primary microceph... |
OMIM:256520 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Communicating hydrocephalus, Septo-optic dysplasia, Cerebellar vermis hypoplasia, Epistaxis, Micr... |
OMIM:619841 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 5 |
|
Death in infancy, Cerebellar vermis hypoplasia, Microcephaly, Partial agenesis of the corpus call... |
OMIM:220111 |
Coffin-Siris Syndrome |
|
Microcephaly, Simplified gyral pattern, Aspiration pneumonia, Agenesis of corpus callosum, Dandy-... |
ORPHA:1465 |
Opitz-Kaveggia Syndrome |
|
Partial agenesis of the corpus callosum, Hydrocephalus |
OMIM:305450 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Cocaine Intoxication |
|
Respiratory distress, Wheezing, Tachypnea, Pneumothorax, Ischemic stroke, Cough, Hyperventilation |
ORPHA:90068 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Dysplastic corpus callosum, Optic atrophy, Simplified gyral pattern, Abno... |
ORPHA:500150 |
Smith-Lemli-Opitz Syndrome |
|
Death in infancy, Diffuse cerebral atrophy, Dandy-Walker malformation, Aganglionic megacolon, Mic... |
OMIM:270400 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Optic disc pallor, Microcephaly, Polymicrogyria, Optic disc coloboma, Optic atrophy, Hydrocephalu... |
OMIM:607872 |
Hydrolethalus Syndrome 1 |
|
Absent septum pellucidum, Abnormal cortical gyration, Anencephaly, Stillbirth, Severe hydrocephal... |
OMIM:236680 |
Holoprosencephaly 1 |
|
Alobar holoprosencephaly, Microcephaly, Cerebellar hypoplasia, Ethmocephaly, Agenesis of corpus c... |
OMIM:236100 |
Trisomy 8P |
|
Hydrocephalus, Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
ORPHA:264450 |
Mgat2-Cdg |
|
Respiratory distress, Cerebellar hypoplasia, Progressive microcephaly |
ORPHA:79329 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Aqueductal stenosis, Tracheomalacia |
ORPHA:93260 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Lateral ventricle dilatation, Cerebral cortical atrophy, Microcephaly |
ORPHA:177907 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Cranium bifidum occultum, Pericallosal lipoma, Agenesis of corpus callosum |
ORPHA:306542 |
Farber Disease |
|
Respiratory distress, Respiratory insufficiency |
ORPHA:333 |
Myoectodermal Gonadal Dysgenesis Syndrome |
|
Agenesis of corpus callosum |
OMIM:618419 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Sinusitis, Tachypnea, Pneumonia |
ORPHA:36234 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Agenesis of corpus callosum, Hypoplasia of the corpus callosum |
OMIM:619194 |
Meckel Syndrome, Type 1 |
|
Occipital encephalocele, Microcephaly, Hydrocephalus, Anencephaly, Cerebellar hypoplasia, Dandy-W... |
OMIM:249000 |
Perlman Syndrome |
|
Agenesis of corpus callosum |
OMIM:267000 |
Coffin-Siris Syndrome 4 |
|
Agenesis of corpus callosum, Dandy-Walker malformation, Microcephaly |
OMIM:614609 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Dyspnea |
OMIM:115197 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Decreased sensory nerve conduction velocity, Microcephaly |
OMIM:615273 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Microcephaly, Optic atrophy, Primary microce... |
OMIM:616268 |
Baller-Gerold Syndrome |
|
Optic nerve hypoplasia, Hydrocephalus, Optic atrophy, Spina bifida occulta, Polymicrogyria, Agene... |
OMIM:218600 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Death in infancy, Emphysema, Microcephaly |
OMIM:224690 |
Microgastria-Limb Reduction Defect Syndrome |
|
Agenesis of corpus callosum, Absent septum pellucidum, Abnormal cortical gyration |
ORPHA:2538 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Aganglionic megacolon, Absent septum pellucidum, Microcephaly, Subcortical cerebral atrophy, Cere... |
ORPHA:2273 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Neural tube defect, Hypoplasia ... |
ORPHA:798 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Communicating hydrocephalus |
OMIM:618188 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Spina bifida, Microcephaly, Hyperintensity of cerebral white matter on MRI,... |
OMIM:180849 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress |
OMIM:612852 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Microcephaly, Aplasia/Hypoplasia of the cerebral white matter, Large basal... |
OMIM:235730 |
Monosomy 9P |
|
Agenesis of corpus callosum, Microcephaly |
ORPHA:261112 |
Esophageal Atresia |
|
Respiratory distress, Episodic respiratory distress, Chronic pulmonary obstruction, Restrictive v... |
ORPHA:1199 |
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:168558 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
1P36 Deletion Syndrome |
|
Agenesis of corpus callosum, Optic atrophy, Cerebral cortical atrophy, Microcephaly |
ORPHA:1606 |
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency |
|
Agenesis of corpus callosum |
ORPHA:289548 |
Degcags Syndrome |
|
Pneumonia, Microcephaly, Asthma, Rhinitis, Tracheomalacia, Pulmonary arterial hypertension, Agene... |
OMIM:619488 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Eosinophilia, Pulmonary embolism, Dyspnea, Asthma, Cough, Pleural effusion |
ORPHA:3260 |
Focal Dermal Hypoplasia |
|
Microcephaly, Hydrocephalus, Myelomeningocele, Optic atrophy, Spina bifida occulta, Agenesis of c... |
OMIM:305600 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Microcephaly |
ORPHA:2554 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Orofaciodigital Syndrome Type 1 |
|
Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:2750 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Optic nerve hypoplasia, Secondary microcephaly, Hypoplasia of the corpus ca... |
ORPHA:508488 |
Simpson-Golabi-Behmel Syndrome |
|
Death in infancy, Agenesis of corpus callosum, Dandy-Walker malformation |
ORPHA:373 |
Yunis-Varon Syndrome |
|
Hydrocephalus, Hypoplasia of the frontal lobes, Cerebellar hypoplasia, Primary microcephaly, Pulm... |
ORPHA:3472 |
Ring Chromosome 13 Syndrome |
|
Anencephaly, Agenesis of corpus callosum, Microcephaly |
ORPHA:96176 |
Q Fever |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:781 |
Holoprosencephaly 2 |
|
Alobar holoprosencephaly, Microcephaly, Holoprosencephaly, Cerebellar hypoplasia, Agenesis of cor... |
OMIM:157170 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Agenesis of corpus callosum |
OMIM:618748 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea, Hydrocephalus |
OMIM:261740 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea, Abnormal autonomic nervous system physiology |
ORPHA:3206 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Hydrocephalus, Spinal d... |
OMIM:114290 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Eosinophilia, Hydrocephalus, Pleural empyema, Cough, Exudative p... |
ORPHA:228123 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress |
OMIM:251100 |
Gabriele-De Vries Syndrome |
|
Abnormal cerebral white matter morphology, Agenesis of corpus callosum, Hypoplasia of the corpus ... |
ORPHA:506358 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion |
ORPHA:340 |
Shwachman-Diamond Syndrome 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:260400 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Doors Syndrome |
|
Respiratory distress, Microcephaly, Optic atrophy, Spina bifida occulta, Aspiration pneumonia, Po... |
ORPHA:79500 |
White-Kernohan Syndrome |
|
Dysplastic corpus callosum |
OMIM:619426 |
Wolf-Hirschhorn Syndrome |
|
Absent septum pellucidum, Microcephaly, Hydrocephalus, Periventricular cysts, Cavum septum pelluc... |
OMIM:194190 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Cough |
ORPHA:537 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress |
OMIM:274150 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Orofaciodigital Syndrome Type 14 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Dandy-W... |
ORPHA:434179 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress |
OMIM:613309 |
Listeriosis |
|
Respiratory distress, Respiratory failure, Miscarriage, Pneumonia |
ORPHA:533 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
|
Respiratory distress, Death in infancy |
OMIM:617156 |
Tubulinopathy-Associated Dysgyria |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the pons, Pachygyria, Abnormality of th... |
ORPHA:467166 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Optic atrophy, Cerebellar hypoplasia, Polymicrogyria, Agenesis of corpus callosum,... |
ORPHA:3455 |
Scimitar Syndrome |
|
Respiratory distress, Pulmonary arterial hypertension, Pneumothorax, Cough |
ORPHA:185 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Cerebellar hypoplasia, Dysplastic corpus callosum, Thick corpus callosum |
OMIM:300967 |
Monosomy 22Q13.3 |
|
Agenesis of corpus callosum |
ORPHA:48652 |
Leptospirosis |
|
Respiratory distress, Papilledema, Pleural effusion, Cough |
ORPHA:509 |
Wiedemann-Rautenstrauch Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Pneumonia, Dandy-Walker malformation |
OMIM:264090 |
Congenital Tracheal Stenosis |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Heterotaxy, Visceral, 1, X-Linked |
|
Respiratory distress, Aqueductal stenosis, Hydrocephalus, Myelomeningocele, Cerebellar hypoplasia |
OMIM:306955 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Agenesis of cerebellar vermis, Aganglionic megacolon, Focal hypointensity of cerebral white matte... |
ORPHA:261537 |
Genitopatellar Syndrome |
|
Microcephaly, Colpocephaly, Pachygyria, Agenesis of corpus callosum, Thin corpus callosum |
OMIM:606170 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the... |
ORPHA:480880 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Rhinitis |
OMIM:305100 |
Gitelman Syndrome |
|
Respiratory distress, Cerebral calcification |
ORPHA:358 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Diffuse cerebral atrophy, Microcephaly |
ORPHA:83617 |
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Cerebellar hypoplasia, Respiratory insuff... |
ORPHA:93271 |
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome |
|
Dysplastic corpus callosum, Cerebellar hypoplasia, Hypoplasia of the corpus callosum |
ORPHA:466791 |
Coffin-Siris Syndrome 1 |
|
Microcephaly, Partial agenesis of the corpus callosum, Hypoplasia of the corpus callosum, Spina b... |
OMIM:135900 |
Kasabach-Merritt Syndrome |
|
Respiratory distress, Hypopnea |
ORPHA:2330 |
Osteoglophonic Dysplasia |
|
Respiratory distress |
OMIM:166250 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Respiratory acidosis, Microcephaly |
OMIM:614748 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Neonatal respiratory distress |
OMIM:119600 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Neonatal respiratory distress, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Hydroce... |
OMIM:312870 |
Mowat-Wilson Syndrome |
|
Focal cortical dysplasia, Agenesis of cerebellar vermis, Aganglionic megacolon, Cerebellar vermis... |
ORPHA:2152 |
Isolated Arrhinia |
|
Respiratory distress |
ORPHA:1134 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Asthma, Nasal flaring |
ORPHA:466943 |
Peters-Plus Syndrome |
|
Hydrocephalus, Agenesis of corpus callosum, Cerebral atrophy, Microcephaly |
OMIM:261540 |
Aortic Arch Interruption |
|
Respiratory distress, Tachypnea, Exertional dyspnea |
ORPHA:2299 |
Witteveen-Kolk Syndrome |
|
Microcephaly, Dysplastic corpus callosum, Cortical dysplasia, Hypoplasia of the corpus callosum, ... |
OMIM:613406 |
Yunis-Varon Syndrome |
|
Cerebellar vermis hypoplasia, Microcephaly, Hypoplasia of the frontal lobes, Hypoplasia of the co... |
OMIM:216340 |
Eisenmenger Syndrome |
|
Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Hypoxemia, Pulmonary art... |
ORPHA:97214 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Cerebral white matter atrophy, Abnormal globus pallidus morphology, Recurre... |
ORPHA:99646 |
Townes-Brocks Syndrome |
|
Agenesis of corpus callosum |
ORPHA:857 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Pulmonary arterial hypertension, Cerebral calcification, Encephalomalacia |
ORPHA:51608 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress |
OMIM:617088 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
|
Respiratory distress |
ORPHA:2255 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Plague |
|
Respiratory distress, Acute infectious pneumonia |
ORPHA:707 |
Craniofacial Microsomia 1 |
|
Occipital encephalocele, Hydrocephalus, Agenesis of corpus callosum |
OMIM:164210 |
Alström Syndrome |
|
Respiratory distress, Optic disc pallor, Chronic pulmonary obstruction, Recurrent pneumonia, Rest... |
ORPHA:64 |
Pmm2-Cdg |
|
Respiratory distress, Cerebellar vermis hypoplasia, Cerebellar hypoplasia, Aspiration pneumonia, ... |
ORPHA:79318 |
Congenital Fibrosis Of Extraocular Muscles |
|
Polymicrogyria, Optic nerve hypoplasia |
ORPHA:45358 |