Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Peripheral axonal degeneration, Diffuse axonal swelling, Pallor of dorsal columns of the spinal c... |
OMIM:602433 |
Lissencephaly 1 |
|
Subcortical band heterotopia, Ventriculomegaly, Pachygyria, Hypoplasia of the brainstem, Agyria, ... |
OMIM:607432 |
Microlissencephaly |
|
Cerebral dysmyelination, Cerebellar atrophy, Periventricular heterotopia, Simplified gyral patter... |
ORPHA:1083 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Cough, Tremor, Abnormal peripheral action potential amplitude, Inability to walk, Abnormality of ... |
ORPHA:90117 |
Chudley-Mccullough Syndrome |
|
Partial agenesis of the corpus callosum, Dysplastic corpus callosum, Cerebellar dysplasia, Ventri... |
OMIM:604213 |
Amyotrophic Lateral Sclerosis 19 |
|
Loss of ability to walk, Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sc... |
OMIM:615515 |
Monomelic Amyotrophy |
|
Abnormality of peripheral nerve conduction, Degeneration of anterior horn cells, Tremor |
ORPHA:65684 |
Cortical Dysplasia, Complex, With Other Brain Malformations 10 |
|
Hypoplasia of the pons, Periventricular ribbonlike heterotopia, Ventriculomegaly, Hypoplasia of t... |
OMIM:618677 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Dystonia, Peripheral axonal neuropathy, Facial diplegia, Neonatal death, Respiratory insufficienc... |
OMIM:611890 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Ataxia, Respiratory insufficiency, Basal ganglia gliosis |
OMIM:607596 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Peripheral axonal neuropathy, Respiratory insufficiency, Global ... |
OMIM:611722 |
Lissencephaly 5 |
|
Optic atrophy, Subcortical band heterotopia, Cerebellar hemisphere hypoplasia, Leukoencephalopath... |
OMIM:615191 |
Lissencephaly 3 |
|
Ventriculomegaly, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Pachygyria, Polymicr... |
OMIM:611603 |
Corpus Callosum, Partial Agenesis Of, X-Linked |
|
Partial agenesis of the corpus callosum, Aganglionic megacolon, Inferior vermis hypoplasia, Hydro... |
OMIM:304100 |
Congenital Muscular Dystrophy Without Intellectual Disability |
|
Proximal amyotrophy, Cerebellar cyst, Cerebellar atrophy, Facial diplegia, Achilles tendon contra... |
ORPHA:370980 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Gait disturbance, Hand tremor, Gliosis, Axonal degeneration, Decreased number of peripheral myeli... |
OMIM:604484 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Respiratory insufficiency due to muscle weakness, Facial palsy, Tremor, Difficulty walking, Degen... |
OMIM:159950 |
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement |
|
Optic atrophy, Dysgyria, Hypoplasia of the brainstem, Hydrocephalus, Cerebellar hypoplasia, Abnor... |
ORPHA:352682 |
Motor Neuron Disease With Dementia And Ophthalmoplegia |
|
Respiratory insufficiency, Astrocytosis, Cerebral atrophy, Respiratory failure, Degeneration of a... |
OMIM:600333 |
Septopreoptic Holoprosencephaly |
|
Abnormal midbrain morphology, Dysphagia, Perisylvian polymicrogyria, Megalencephaly, Hypoplasia o... |
ORPHA:280195 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Dystonia, Axonal loss, Gliosis, Amyotrophic lateral sclerosis |
OMIM:300857 |
Joubert Syndrome 13 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Pachygyria |
OMIM:614173 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis, Gliosis, Abnormal lower m... |
OMIM:105550 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Cerebellar cyst, Skeletal muscle hypertrophy, Reduced muscle fiber alpha dystroglycan, Hydrocepha... |
ORPHA:370959 |
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity |
|
Periventricular nodular heterotopia, Optic atrophy, Microcephaly, Cerebellar hypoplasia |
OMIM:618572 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Respiratory insufficiency, Increased neuronal autofluorescent lipopigment, Ne... |
OMIM:610127 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Abnormal lower m... |
OMIM:602099 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Optic atrophy, Neonatal respiratory distress, Small for gestational age, Cerebral atrophy, Respir... |
OMIM:619057 |
Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
Myopathy, Areflexia, Respiratory Distress, And Dysphagia, Early-Onset |
|
Respiratory insufficiency, Failure to thrive, Facial palsy, Respiratory failure, Respiratory dist... |
OMIM:614399 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Abnormal upper motor neuro... |
OMIM:614373 |
Periventricular Nodular Heterotopia 7 |
|
Optic atrophy, Cleft palate, Periventricular nodular heterotopia, Flexion contracture, Gray matte... |
OMIM:617201 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of the lateral corticospinal tracts, Amyotrophic lateral sclerosis, Sleep apnea, Deg... |
OMIM:105400 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Gait disturbance, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608030 |
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures |
|
Abnormality of neuronal migration, Abnormal corpus callosum morphology, Ventriculomegaly, Hydroce... |
OMIM:618709 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Respiratory insufficiency due to muscle weakness, Facial palsy, Respiratory insufficiency, Degene... |
OMIM:301830 |
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1 |
|
Peripheral axonal degeneration, Small for gestational age, Tachypnea, Failure to thrive, Axonal d... |
OMIM:604320 |
Pontocerebellar Hypoplasia, Type 1C |
|
Respiratory failure, Respiratory insufficiency, Cerebral cortical atrophy, Failure to thrive |
OMIM:616081 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Dystonia, Spastic gait, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Ab... |
OMIM:205100 |
Spinal Muscular Atrophy, Type Iv |
|
Hand tremor, Degeneration of anterior horn cells |
OMIM:271150 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Dystonia, Gait disturbance, Temporal cortical atrophy, Amyotrophic lateral sclerosis, Facial pals... |
OMIM:167320 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Abnormal motor neuron morphology, Motor axonal neuropathy, Cranial nerve compression, Amyotrophic... |
ORPHA:52430 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6 |
|
Abnormality of neuronal migration, Skeletal muscle hypertrophy, Macroglossia, Achilles tendon con... |
OMIM:608840 |
Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormality of circulating catecholamine level, Abnormal autonomic nervo... |
ORPHA:441 |
Polymicrogyria Due To Tubb2B Mutation |
|
Cerebellar atrophy, Perisylvian polymicrogyria, Schizencephaly, Hypoplasia of the pons, Dysgenesi... |
ORPHA:300573 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Respiratory failure, Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Diffi... |
OMIM:613954 |
Leigh Syndrome |
|
Optic atrophy, Dystonia, Hepatocellular necrosis, Respiratory insufficiency, Abnormal pattern of ... |
OMIM:256000 |
Spinal Muscular Atrophy, Type Ii |
|
Hand tremor, Degeneration of anterior horn cells |
OMIM:253550 |
Burning Mouth Syndrome |
|
Abnormality of somatosensory evoked potentials, Abnormal fifth cranial nerve morphology |
ORPHA:353253 |
Disordered Steroidogenesis Due To Cytochrome P450 Oxidoreductase Deficiency |
|
Congenital adrenal hyperplasia, Increased circulating ACTH level |
OMIM:613571 |
Spinal Muscular Atrophy, Type Iii |
|
Hand tremor, Degeneration of anterior horn cells |
OMIM:253400 |
Slc35A2-Cdg |
|
Dandy-Walker malformation, Abnormal midbrain morphology, Limb joint contracture, Cerebellar atrop... |
ORPHA:356961 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Respiratory failure, Ataxia, Cerebral atrophy, Tremor |
OMIM:618637 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Dandy-Walker malformation, Agenesis of corpus callosum, Anencephaly, Cortical dysplasia, Ventricu... |
OMIM:615287 |
Spinocerebellar Ataxia Type 1 |
|
Postural tremor, Optic atrophy, Gait disturbance, Dystonia, Abnormality of somatosensory evoked p... |
ORPHA:98755 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Recurrent aspiration pneumonia, Respiratory insufficiency due to muscle weakness, Tremor, Inabili... |
ORPHA:2590 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology |
OMIM:105500 |
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations |
|
Abnormality of neuronal migration, Schizencephaly, Abnormal corpus callosum morphology, Simplifie... |
OMIM:604317 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Dilated cardiomyopathy, Optic atrophy, Hypertrophic cardiomyopathy, Ragged-red muscle fibers, Abn... |
OMIM:252011 |
Band Heterotopia |
|
Subcortical band heterotopia, Ventriculomegaly, Hydrocephalus, Polymicrogyria, Gray matter hetero... |
OMIM:600348 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Cerebral cortical atrophy |
OMIM:616437 |
Pituitary Hormone Deficiency, Combined Or Isolated, 7 |
|
Short stature, Truncal obesity, Postnatal growth retardation, Abdominal obesity, Decreased respon... |
OMIM:618160 |
Hemimegalencephaly |
|
Optic atrophy, Abnormal neuron morphology, Hemimegalencephaly, Gliosis, Ventriculomegaly, Pachygy... |
ORPHA:99802 |
Amyotrophic Lateral Sclerosis 21 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... |
OMIM:606070 |
Joubert Syndrome 32 |
|
Hypertrophic cardiomyopathy, Molar tooth sign on MRI, Polymicrogyria, Abnormal cerebellum morphology |
OMIM:617757 |
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism |
|
Axonal loss, Orthostatic hypotension, Gliosis, Decreased nerve conduction velocity, Central hypov... |
OMIM:118301 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Gait disturbance, Optic disc pallor, Failure to thrive, Ataxia, Cerebral atrophy, Respiratory fai... |
OMIM:615838 |
Isolated Lissencephaly Type 1 Without Known Genetic Defects |
|
Ventriculomegaly, Pachygyria, Agyria, Gray matter heterotopia, Enlarged sylvian cistern |
ORPHA:1084 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Abnormal respiratory system physiology, Neurodegeneration, Amyotrophic late... |
ORPHA:803 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Ataxia, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Nemaline Myopathy 8 |
|
Respiratory failure, Death in infancy, Facial palsy |
OMIM:615348 |
Joubert Syndrome With Ocular Defect |
|
Dextrocardia, Cleft palate, Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis... |
ORPHA:220493 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Optic atrophy, Death in infancy, Respiratory insufficiency, Ataxia, Respiratory failure, Lethargy |
OMIM:614299 |
Cortical Dysplasia, Complex, With Other Brain Malformations 3 |
|
Subcortical band heterotopia, Pachygyria, Hypoplasia of the corpus callosum, Agyria, Gray matter ... |
OMIM:615411 |
3-Methylglutaconic Aciduria, Type Viii |
|
Dystonia, Death in infancy, Apnea, Tremor, Cerebral atrophy, Respiratory failure |
OMIM:617248 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Optic atrophy, Peripheral axonal neuropathy, Cerebellar atrophy, Cerebellar gliosis, Dysmetria, S... |
OMIM:616505 |
X-Linked Lissencephaly With Abnormal Genitalia |
|
Ventricular septal defect, Aganglionic megacolon, Malabsorption, Patent ductus arteriosus, Ventri... |
ORPHA:452 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Dandy-Walker malformation, Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Lissenc... |
OMIM:613153 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Death in infancy, Gliosis |
OMIM:225753 |
Attrv122I Amyloidosis |
|
Hypertrophic cardiomyopathy, Cardiac amyloidosis, Tendon rupture, Reduced ejection fraction, Angi... |
ORPHA:85451 |
Cardiomyopathy, Dilated, 1C, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Ventricular arrhythmia, Left ventricular hypertroph... |
OMIM:601493 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:612069 |
Coach Syndrome 2 |
|
Hypertension, Portal fibrosis, Hepatic fibrosis, Congenital hepatic fibrosis, Cerebellar vermis h... |
OMIM:619111 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Cerebellar atrophy, Apnea, Gliosis, Central sleep apnea, Pachygyri... |
ORPHA:168486 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Optic atrophy, Respiratory insufficiency, Failure to thrive, Brain atrophy, Lethargy |
OMIM:618228 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Abnormal respiratory system physiology, Respiratory insufficiency, Reduced maximal inspiratory pr... |
ORPHA:266 |
Joubert Syndrome |
|
Abnormality of neuronal migration, Aganglionic megacolon, Situs inversus totalis, Abnormality of ... |
ORPHA:475 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Respiratory insufficiency, Failure to thrive, Pulmonary arterial hypertension, Respiratory failur... |
OMIM:605711 |
Amyotrophic Lateral Sclerosis 11 |
|
Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
X-Linked Complicated Corpus Callosum Dysgenesis |
|
Microcephaly, Aganglionic megacolon, Cerebellar hypoplasia |
ORPHA:1497 |
Meckel Syndrome, Type 4 |
|
Dandy-Walker malformation, Meningocele, Ventricular septal defect, Cleft palate, Anencephaly, Age... |
OMIM:611134 |
3C Syndrome |
|
Abnormality of neuronal migration, Cleft palate, Aplasia/Hypoplasia of the cerebellum, Adrenal hy... |
ORPHA:7 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Marcus-Gunn Syndrome |
|
Abnormal fifth cranial nerve morphology |
ORPHA:91412 |
Congenital Hydrocephalus |
|
Abnormal cortical gyration, Optic atrophy, Small cerebral cortex, Colpocephaly, Abnormal heart mo... |
ORPHA:2185 |
Cholesterol Pneumonia |
|
Death in infancy, Pneumonia, Tachypnea, Cough, Cyanosis |
OMIM:215030 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormality of neuronal migration, Ventricular septal defect, Ventriculomegaly, Aplasia/Hypoplasi... |
ORPHA:2772 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis, Decreased nerve ... |
ORPHA:600 |
Arthrogryposis, Distal, With Mental Retardation And Characteristic Facies |
|
Respiratory failure, Respiratory insufficiency |
OMIM:208081 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Left Ventricular Noncompaction 1 |
|
Left ventricular noncompaction cardiomyopathy, Ventricular septal defect, Atrial fibrillation, Mi... |
OMIM:604169 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Respiratory failure, Respiratory insufficiency due to muscle weakness, Polymicrogyria, Cerebral c... |
OMIM:618291 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Cortical dysplasia, Mi... |
OMIM:615412 |
Joubert Syndrome 30 |
|
Dandy-Walker malformation, Cerebellar atrophy, Ventriculomegaly, Molar tooth sign on MRI, Gray ma... |
OMIM:617622 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Lipoid Congenital Adrenal Hyperplasia |
|
Congenital adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201710 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Left Ventricular Noncompaction 8 |
|
Dilated cardiomyopathy, Abnormal left ventricular function, Mitral regurgitation, Congestive hear... |
OMIM:615373 |
Muscular Dystrophy, Congenital, 1B |
|
Respiratory failure, Facial palsy |
OMIM:604801 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Dystonia, Cachexia, Arm dystonia, Opisthotonus, Axial dystonia, Head titubation, Oromandibular dy... |
ORPHA:300605 |
Paragangliomas 6 |
|
Elevated circulating catecholamine level, Paraganglioma |
OMIM:618464 |
Walker-Warburg Syndrome |
|
Abnormality of neuronal migration, Cleft palate, Hydrocephalus, Polymicrogyria, Cerebellar hypopl... |
ORPHA:899 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Respiratory insufficiency, Facial palsy, Loss of ability to walk, Respiratory failure, Cerebral c... |
ORPHA:370968 |
Joubert Syndrome With Renal Defect |
|
Cleft palate, Aganglionic megacolon, Abnormality of the hypothalamus-pituitary axis, Cerebellar v... |
ORPHA:220497 |
Megalencephaly-Polymicrogyria-Postaxial Polydactyly-Hydrocephalus Syndrome |
|
Ventricular septal defect, Megalencephaly, Mitral regurgitation, Polymicrogyria, Hydrocephalus, A... |
ORPHA:83473 |
Rhombencephalosynapsis |
|
Aganglionic megacolon, Septo-optic dysplasia, Agenesis of cerebellar vermis, Esophageal atresia, ... |
ORPHA:59315 |
Joubert Syndrome With Oculorenal Defect |
|
Abnormality of neuronal migration, Aganglionic megacolon, Abnormality of the hypothalamus-pituita... |
ORPHA:2318 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Optic atrophy, Respiratory insufficiency, Polymicrogyria, Cerebral atrophy, Respiratory failure |
OMIM:615330 |
Left Ventricular Noncompaction 7 |
|
Left ventricular noncompaction cardiomyopathy, Left ventricular noncompaction |
OMIM:615092 |
Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Periventricular cysts, Abnormal corpus callosum morphology, Ventriculomegaly, Abnormal brainstem ... |
ORPHA:255182 |
Mitochondrial Complex I Deficiency, Nuclear Type 30 |
|
Respiratory failure, Neonatal death |
OMIM:301021 |
Bilateral Striopallidodentate Calcinosis |
|
Abnormality of neuronal migration, Hepatomegaly, Ventriculomegaly, Abnormality of the liver, Cere... |
ORPHA:1980 |
Cardiomyopathy, Dilated, 1R |
|
Dilated cardiomyopathy, Ventricular arrhythmia, Restrictive cardiomyopathy, Left ventricular hype... |
OMIM:613424 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:618328 |
Frontotemporal Dementia |
|
Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:600274 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Onion bulb formation, Abnormal cranial nerve morpholog... |
OMIM:605253 |
Amyotrophic Lateral Sclerosis 23 |
|
Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Abnormality of neuronal migration, Dysphagia, Cerebellar atrophy, Agenesis of corpus callosum, Mi... |
ORPHA:89844 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Respiratory failure |
OMIM:263000 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Neuronal loss in central nervous system, Reduced subcutaneous adipose tissue, Tr... |
ORPHA:363400 |
Ceroid Lipofuscinosis, Neuronal, 7 |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Ataxia, Cerebral atrophy |
OMIM:610951 |
Hyperaldosteronism, Familial, Type I |
|
Adrenal hyperplasia, Adrenogenital syndrome, Hyperaldosteronism, Decreased circulating renin level |
OMIM:103900 |
Acalvaria |
|
Abnormality of neuronal migration, Cleft palate, Holoprosencephaly, Aplasia/Hypoplasia of the cer... |
ORPHA:945 |
Bullous Dystrophy, Hereditary Macular Type |
|
Acrocyanosis, Death in childhood |
OMIM:302000 |
Gómez-López-Hernández Syndrome |
|
Abnormal brainstem morphology, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal cerebellum m... |
ORPHA:1532 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Neuromyelitis Optica Spectrum Disorder |
|
Respiratory failure, Peripheral demyelination, Neuronal loss in central nervous system, Myelitis |
ORPHA:71211 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Hypertrophic cardiomyopathy, Left ventricular noncompaction, Microcephaly |
OMIM:617228 |
Pigmented Nodular Adrenocortical Disease, Primary, 3 |
|
Adrenal hyperplasia, Increased circulating cortisol level |
OMIM:614190 |
Cyanosis And Hepatic Disease |
|
Cyanosis, Dyspnea |
OMIM:219400 |
Cardiomyopathy, Dilated, 1Aa, With Or Without Left Ventricular Noncompaction |
|
Dilated cardiomyopathy, Endocardial fibrosis, Atrial fibrillation, Atrioventricular block, Endoca... |
OMIM:612158 |
Sub-Cortical Nodular Heterotopia |
|
Abnormality of neuronal migration, Abnormal cerebral cortex morphology, Polymicrogyria, Subcortic... |
ORPHA:101029 |
Alkuraya-Kucinskas Syndrome |
|
High palate, Pericardial effusion, Cerebellar dysplasia, Arthrogryposis multiplex congenita, Vent... |
OMIM:617822 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Failure to thrive in infancy, Respiratory insufficiency, Respiratory insufficiency due to muscle ... |
ORPHA:254875 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Neonatal respiratory distress, Death in infancy, Respiratory insufficiency, Failure to thrive, Ne... |
OMIM:245400 |
Apnea, Central Sleep |
|
Cyanosis, Sleep apnea, Irregular respiration, Abnormal pattern of respiration |
OMIM:207720 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Adult Krabbe Disease |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:206448 |
Amyotrophic Lateral Sclerosis 8 |
|
Postural tremor, Neuronal loss in central nervous system, Amyotrophic lateral sclerosis |
OMIM:608627 |
Autoimmune Polyendocrinopathy Type 1 |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Hypoparathyroidism, Increased circu... |
ORPHA:3453 |
Spinal Muscular Atrophy, Type I |
|
Respiratory failure, Respiratory insufficiency |
OMIM:253300 |
Bresek Syndrome |
|
Aganglionic megacolon, Cleft palate, Optic nerve hypoplasia, Neonatal death, Hydrocephalus, Crypt... |
ORPHA:85284 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11 |
|
Cerebellar cyst, Cerebellar dysplasia, Hypoplasia of the pons, Optic nerve hypoplasia, Leukoencep... |
OMIM:615181 |
Cryptogenic Organizing Pneumonia |
|
Wheezing, Hypoxemia, Bronchial breath sound, Crackles, Pneumothorax, Weight loss, Cough, Respirat... |
ORPHA:1302 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Hypertrophic cardiomyopathy, Optic atrophy, Hepatomegaly, Telangiectasia, Telangiectasia of the s... |
ORPHA:79279 |
Atrial Standstill |
|
Syncope, Ventricular escape rhythm, Cardiac conduction abnormality, Abnormal P wave, Reduced ejec... |
ORPHA:1344 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Dystonia, Central apnea, Ataxia, Cyanosis, Lethargy |
ORPHA:71277 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Optic atrophy, Dysmetria, Apnea, Ataxia, Central hypoventilation, Respiratory failure |
OMIM:618233 |
L1 Syndrome |
|
Aganglionic megacolon, Hydrocephalus, Skeletal muscle atrophy, Aqueductal stenosis |
ORPHA:275543 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Dystonic gait, Failure to thrive, Gliosis, Ataxia, Inability to walk, Macrogyria, Respiratory fai... |
ORPHA:280210 |
Neurodegeneration With Brain Iron Accumulation 5 |
|
Dystonia, Cerebellar atrophy, Neurodegeneration, Bradykinesia, Tremor, Cerebral atrophy, Abnormal... |
OMIM:300894 |
Left Ventricular Noncompaction 10 |
|
Dilated cardiomyopathy, Left ventricular noncompaction |
OMIM:615396 |
Hirschsprung Disease, Susceptibility To, 1 |
|
Aganglionic megacolon, Abnormality of enteric ganglion morphology, Enterocolitis |
OMIM:142623 |
Periventricular Heterotopia With Microcephaly, Autosomal Recessive |
|
Periventricular heterotopia, Periventricular nodular heterotopia, Progressive microcephaly, Hypop... |
OMIM:608097 |
Hereditary Methemoglobinemia |
|
Athetosis, Cerebellar atrophy, Temporal cortical atrophy, Small for gestational age, Global brain... |
ORPHA:621 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Restrictive ventilatory defect, Decreased size of nerve terminals, Facial palsy, Exertional dyspn... |
ORPHA:98913 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Head titubation, Gliosis, Absent brainstem auditory responses, Vestibular areflexia, Diffuse cere... |
ORPHA:3240 |
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Hypertension, Ventricular septal defect, Aganglionic megacolon, Tachycardia, Patent ductus arteri... |
OMIM:613870 |
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome |
|
Acrocyanosis |
ORPHA:86918 |
Mental Retardation, Autosomal Dominant 13 |
|
Abnormality of neuronal migration, Pachygyria, Hypoplasia of the brainstem, Cerebellar hypoplasia... |
OMIM:614563 |
Chiari Malformation Type Ii |
|
Opisthotonus, Myelomeningocele, Syringomyelia, Ataxia, Cyanosis, Cervical myelopathy, Spina bifid... |
OMIM:207950 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Death in infancy, Tachypnea, Failure to thrive, Neonatal death, Pu... |
OMIM:265120 |
Congenital Alveolar Capillary Dysplasia |
|
Bicuspid aortic valve, Ventricular septal defect, Aganglionic megacolon, Duodenal stenosis, Asple... |
ORPHA:210122 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Respiratory insufficiency, Failure to thrive, Apnea,... |
OMIM:618226 |
Intellectual Developmental Disorder, X-Linked 12 |
|
Abnormality of neuronal migration, Gliosis, Ventriculomegaly, Microcephaly, Cerebellar vermis hyp... |
OMIM:300957 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 3 |
|
Dilated cardiomyopathy, Hepatomegaly, Optic disc pallor, Mitral regurgitation, Neonatal death, Le... |
OMIM:619167 |
Hydrolethalus Syndrome 2 |
|
Cleft palate, Anencephaly, Ventriculomegaly, Molar tooth sign on MRI, Hydrocephalus, Agenesis of ... |
OMIM:614120 |
Joubert Syndrome 10 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI |
OMIM:300804 |
Multiple Epiphyseal Dysplasia, Al-Gazali Type |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Agenesis of corpus callosum, Cerebral... |
ORPHA:166024 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Motor conduction block, Abnormal motor neuron morphology |
DECIPHER:31 |
Asbestos Intoxication |
|
Wheezing, Restrictive ventilatory defect, Hypoxemia, Exertional dyspnea, Dyspnea, Cyanosis, Late ... |
ORPHA:2302 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Failure to thrive, Respiratory distress, Cyanosis |
ORPHA:91130 |
Cerebellar-Facial-Dental Syndrome |
|
Contractures involving the joints of the feet, Abnormal midbrain morphology, Ventricular septal d... |
ORPHA:444072 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Dandy-Walker malformation, Dysphagia, Meckel diverticulum, Agenesis of cerebellar vermis, Abnorma... |
ORPHA:163961 |
Neurotrophic Keratopathy |
|
Abnormal fifth cranial nerve morphology |
ORPHA:137596 |
Intermediate Nemaline Myopathy |
|
Respiratory failure, Facial diplegia, Facial palsy, Difficulty walking |
ORPHA:171433 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure, Respiratory failure requiring assisted ventilation |
ORPHA:132 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7 |
|
Dandy-Walker malformation, Partial agenesis of the corpus callosum, Optic nerve hypoplasia, Lisse... |
OMIM:614643 |
Venular Insufficiency, Systemic |
|
Cyanosis |
OMIM:192700 |
Sulfhemoglobinemia, Congenital |
|
Cyanosis |
OMIM:185460 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Abnormal anterior horn cell morphology, Respiratory insufficiency, Degenera... |
ORPHA:1145 |
Machado-Joseph Disease Type 3 |
|
Dystonia, Peripheral axonal neuropathy, Cerebellar atrophy, Degeneration of the striatum, Progres... |
ORPHA:276244 |
Vici Syndrome |
|
Optic atrophy, High palate, Hypoplasia of the pons, Cardiomyopathy, Cerebellar hypoplasia, Gray m... |
ORPHA:1493 |
Seizures, Benign Familial Infantile, 3 |
|
Cyanosis, Apnea |
OMIM:607745 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Aplasia of the olfactory bulb, Intestinal pseudo-obstruction, Functional i... |
OMIM:243180 |
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form |
|
Abnormality of neuronal migration, High, narrow palate, Hepatic calcification, Hepatomegaly, Cere... |
ORPHA:228308 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Hydrocephalus |
OMIM:613603 |
Aganglionosis, Total Intestinal |
|
Total intestinal aganglionosis |
OMIM:202550 |
Joubert Syndrome 2 |
|
High palate, Brainstem dysplasia, Dysgenesis of the cerebellar vermis, Agenesis of cerebellar ver... |
OMIM:608091 |
Riboflavin Transporter Deficiency |
|
Cachexia, Abnormal cranial nerve morphology, Optic disc pallor, Respiratory insufficiency, Facial... |
ORPHA:97229 |
Methemoglobinemia, Beta Type |
|
Cyanosis |
OMIM:617971 |
Methemoglobinemia, Alpha Type |
|
Cyanosis |
OMIM:617973 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal midbrain morphology, Abnormality of the medulla oblongata, Abnormal pons morphology, Abn... |
ORPHA:68 |
Seizures, Benign Familial Infantile, 1 |
|
Cyanosis, Apnea |
OMIM:601764 |
Fryns Syndrome |
|
Dandy-Walker malformation, High palate, Cleft palate, Duodenal atresia, Aganglionic megacolon, Ec... |
ORPHA:2059 |
Lissencephaly 6 With Microcephaly |
|
Partial agenesis of the corpus callosum, Cerebellar atrophy, Limb hypertonia, Microlissencephaly,... |
OMIM:616212 |
Arnold-Chiari Malformation Type Ii |
|
Meningocele, Partial agenesis of the corpus callosum, Abnormality of the medulla oblongata, Dysph... |
ORPHA:1136 |
Microgastria-Limb Reduction Defects Association |
|
Microgastria, Arrhinencephaly, Aganglionic megacolon, Fusion of the left and right thalami, Asple... |
OMIM:156810 |
Pontocerebellar Hypoplasia Type 10 |
|
Abnormal brainstem morphology, Optic atrophy, Simplified gyral pattern, Abnormal cerebral cortex ... |
ORPHA:411493 |
Familial Hyperaldosteronism Type Ii |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Glucocortocoid... |
ORPHA:404 |
Neuralgic Amyotrophy |
|
Acrocyanosis, Respiratory insufficiency |
ORPHA:2901 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure, Increased body weight, Jaundice |
ORPHA:890 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory failure, Respiratory distress, Dyspnea |
ORPHA:1832 |
Hsd10 Disease, Infantile Type |
|
Dystonia, Optic atrophy, Neurodegeneration, Loss of ability to walk, Cyanosis, Cerebral atrophy, ... |
ORPHA:391428 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Hypoxemia, Neonatal respiratory distress, Death in infancy, Nonspecific interstitial pneumonia, T... |
OMIM:610921 |
Motor Neuropathy, Peripheral, With Dysautonomia |
|
Orthostatic hypotension, Peripheral demyelination, Decreased nerve conduction velocity, Cyanosis,... |
OMIM:252320 |
Hyperekplexia 4 |
|
Respiratory failure, Cerebral atrophy |
OMIM:618011 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Adrenal Hyperplasia, Congenital, Due To 21-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:201910 |
Familial Hyperaldosteronism Type I |
|
Adrenal hyperplasia, Abnormal circulating renin, Secretory adrenocortical adenoma, Dexamethasone-... |
ORPHA:403 |
Carnitine Palmitoyltransferase Ii Deficiency |
|
Abnormality of neuronal migration, Hepatomegaly, Hepatic calcification, Myopathy, Cerebral calcif... |
ORPHA:157 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Adrenal hyperplasia, Macronodular adrenal hyperplasia, Primary hypercortisolism, Increased circul... |
OMIM:219080 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Dilated third ventricle, Dandy-Walker malformation, Meningocele, Dysgenesis of the cerebellar ver... |
ORPHA:397715 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Neonatal death, Death in childhood, Akinesia, Respiratory failure |
OMIM:619334 |
Joubert Syndrome 1 |
|
Optic disc pallor, Brainstem dysplasia, Occipital myelomeningocele, Dysgenesis of the cerebellar ... |
OMIM:213300 |
Hyperphosphatasia With Mental Retardation Syndrome 1 |
|
Aganglionic megacolon, Cleft palate, Abnormal heart morphology, Abnormal rectum morphology, Hydro... |
OMIM:239300 |
Laryngotracheal Angioma |
|
Wheezing, Stridor, Apnea, Cough, Respiratory distress, Cyanosis, Intercostal retractions |
ORPHA:137935 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Cleft palate, Ventriculomegaly, Pachygyria, Hypoplasia of the corpus callo... |
ORPHA:66629 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Obstructive sleep apnea, Failure to thrive, Central sleep apnea, Ataxia, Inability to walk, Gener... |
ORPHA:70472 |
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia |
|
Ventricular septal defect, Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of ... |
OMIM:619306 |
Hirschsprung Disease With Ulnar Polydactyly, Polysyndactyly Of Big Toes, And Ventricular Septal Defect |
|
Ventricular septal defect, Aganglionic megacolon |
OMIM:235750 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Death in infancy, Myelopathy, Tremor, Ataxia, Brain atrophy, Respiratory failure |
OMIM:617186 |
Chronic Pneumonitis Of Infancy |
|
Hypoxemia, Tachypnea, Failure to thrive, Cough, Respiratory distress, Cyanosis, Intercostal retra... |
ORPHA:91359 |
Cardiomyopathy, Dilated, 1D |
|
Dilated cardiomyopathy, Atrial fibrillation, Left ventricular hypertrophy, Congestive heart failu... |
OMIM:601494 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Atrophy/Degeneration affecting the brainstem, Abnormal auditory ev... |
ORPHA:99852 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Abnormal cortical gyration, Peripheral axonal neuropathy, Neonatal respiratory distress, Axonal l... |
OMIM:616867 |
Pneumocystosis |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Weight loss, Exertional dyspnea, ... |
ORPHA:723 |
Orofaciodigital Syndrome Xv |
|
Lobulated tongue, Molar tooth sign on MRI, Agenesis of corpus callosum, Ventriculomegaly |
OMIM:617127 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Ventricular septal defect, Skeletal muscle atrophy, Megalencephaly, Mitral regurgitation, Thick c... |
OMIM:603387 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 13 |
|
Hypertrophic cardiomyopathy, Reduced ejection fraction, Aortic regurgitation, Patent ductus arter... |
OMIM:616501 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4 |
|
Dilated cardiomyopathy, Cerebellar cyst, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Ag... |
OMIM:253800 |
Poretti-Boltshauser Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Cerebellar vermis hypoplasia, Gr... |
OMIM:615960 |
Pseudo-Torch Syndrome 2 |
|
Cerebral hemorrhage, Hepatomegaly, Bradycardia, Patent ductus arteriosus, Ventriculomegaly, Polym... |
OMIM:617397 |
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency |
|
Increased circulating progesterone, Elevated circulating follicle stimulating hormone level, Abno... |
ORPHA:90793 |
Coach Syndrome 1 |
|
Hepatomegaly, Hypertension, Optic disc pallor, Esophageal varix, Hepatic fibrosis, Aplasia/Hypopl... |
OMIM:216360 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Aganglionic megacolon, Cleft palate, Ventriculomegaly, Olivopontocerebellar atrophy, Cryptorchidi... |
OMIM:308205 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Respiratory failure |
OMIM:600561 |
Lissencephaly, X-Linked, 1 |
|
Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly, Agenesis of corpus callosum |
OMIM:300067 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Hypoxemia, Respiratory insufficiency, Interstitial pneumonitis, Nonspecific interstitial pneumoni... |
OMIM:610913 |
American Trypanosomiasis |
|
Myocarditis, Hepatomegaly, Aganglionic megacolon, Cardiomyopathy, Splenomegaly, Achalasia, Conges... |
ORPHA:3386 |
Neurodegeneration, Childhood-Onset, With Brain Atrophy |
|
Dystonia, Axonal loss, Cerebellar atrophy, Neurodegeneration, Peripheral demyelination, Ataxia, C... |
OMIM:617672 |
Periventricular Nodular Heterotopia 6 |
|
Periventricular nodular heterotopia, Gray matter heterotopia |
OMIM:615544 |
Vacterl Association With Hydrocephalus |
|
Abnormal heart morphology, Stillbirth, Anal atresia, Hydrocephalus, Aqueductal stenosis |
OMIM:276950 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Optic atrophy, Periventricular heterotopia, Ventriculomegaly, Hydrocephalus, Cerebellar hypoplasi... |
OMIM:618476 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Flexion contracture, Cerebellar hypoplasia |
OMIM:617562 |
Congenital Disorder Of Glycosylation, Type Iil |
|
Abnormal cortical gyration, Optic atrophy, Ventricular septal defect, Inflammation of the large i... |
OMIM:614576 |
Adrenal Hyperplasia, Congenital, Due To 17-Alpha-Hydroxylase Deficiency |
|
Adrenal hyperplasia, Adrenogenital syndrome |
OMIM:202110 |
Orofaciodigital Syndrome Vi |
|
Cleft palate, High palate, Hypothalamic hamartoma, Tongue nodules, Cerebellar vermis hypoplasia, ... |
OMIM:277170 |
Orofaciodigital Syndrome Xiv |
|
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Hamartoma of tongue, Perivent... |
OMIM:615948 |
Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay |
|
Abnormal pons morphology, Dysphagia, Cerebellar atrophy, Mitral valve prolapse, Foot dorsiflexor ... |
ORPHA:98 |
Mismatch Repair Cancer Syndrome 4 |
|
Gray matter heterotopia, Agenesis of corpus callosum, Adenomatous colonic polyposis, Colon cancer |
OMIM:619101 |
Joubert Syndrome 22 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Temporal cortical atrophy, Agenesis o... |
OMIM:615665 |
Pigmented Nodular Adrenocortical Disease, Primary, 4 |
|
Adrenal hyperplasia, Primary hypercortisolism, Increased circulating cortisol level, Diabetes mel... |
OMIM:615830 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI |
OMIM:618763 |
Acromelic Frontonasal Dysostosis |
|
Cleft palate, Periventricular nodular heterotopia, Ventriculomegaly, Hypopituitarism, Gray matter... |
OMIM:603671 |
African Iron Overload |
|
Hepatomegaly, Hepatic fibrosis, Hepatocellular carcinoma, Elevated hepatic iron concentration, Pe... |
ORPHA:139507 |
Neurooculocardiogenitourinary Syndrome |
|
Ventricular septal defect, Cardiomegaly, Patent ductus arteriosus, Tricuspid regurgitation, Bilat... |
OMIM:618652 |
Fibuloulnar Aplasia Or Hypoplasia With Renal Abnormalities |
|
Respiratory failure, Neonatal death, Respiratory insufficiency |
OMIM:228940 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Cleft palate, Anencephaly, Congenital diaphragmatic hernia, Cerebellar vermis hypoplasia, Molar t... |
OMIM:616546 |
Acth-Independent Macronodular Adrenal Hyperplasia 2 |
|
Macronodular adrenal hyperplasia, Increased urinary cortisol level, Increased circulating cortiso... |
OMIM:615954 |
Staphylococcal Necrotizing Pneumonia |
|
Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Pleural empyema, Respiratory distress, Acut... |
ORPHA:36238 |
Joubert Syndrome 4 |
|
Thickened superior cerebellar peduncle, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, El... |
OMIM:609583 |
Leigh Syndrome With Cardiomyopathy |
|
Dilated cardiomyopathy, Optic atrophy, Dysphagia, Hypertrophic cardiomyopathy, Neuronal loss in b... |
ORPHA:70474 |
Symmetrical Thalamic Calcifications |
|
Abnormality of neuronal migration, Arrhythmia, Microcephaly, Cerebral calcification |
ORPHA:1314 |
Desmosterolosis |
|
Abnormality of neuronal migration, Abnormal cortical gyration, Cleft palate, Agenesis of corpus c... |
ORPHA:35107 |
Joubert Syndrome 37 |
|
Hepatomegaly, High palate, Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Cryptorchidism,... |
OMIM:619185 |
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency |
|
Duodenal atresia, Polymicrogyria, Cerebellar hypoplasia, Cerebral atrophy, Camptodactyly of finge... |
ORPHA:468631 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, High palate, Right ventricular dilatation, Dysplastic tricuspid valve, Mitra... |
OMIM:612863 |
Mowat-Wilson Syndrome |
|
Pyloric stenosis, Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebral whit... |
OMIM:235730 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Pontocerebellar atrophy, Intercostal muscle weakness, Respiratory insufficiency, Pulmonary arteri... |
ORPHA:258 |
Leber Congenital Amaurosis |
|
Abnormality of neuronal migration, Abnormality of the optic disc, Aplasia/Hypoplasia of the cereb... |
ORPHA:65 |
Oculogastrointestinal Muscular Dystrophy |
|
Myopathy, Skeletal muscle atrophy, Abnormal gastric mucosa morphology, Intestinal pseudo-obstruct... |
ORPHA:1876 |
Joubert Syndrome 3 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle, En... |
OMIM:608629 |
Thanatophoric Dysplasia Type 2 |
|
Abnormality of neuronal migration, Holoprosencephaly, Patent ductus arteriosus, Ventriculomegaly,... |
ORPHA:93274 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Abnormal midbrain morphology, Abnormal pons morphology... |
ORPHA:79139 |
Pyruvate Dehydrogenase E1-Beta Deficiency |
|
Periventricular cysts, Periventricular heterotopia, Ventriculomegaly, Pachygyria, Hypoplasia of t... |
ORPHA:255138 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure |
OMIM:616794 |
Spinocerebellar Ataxia Type 2 |
|
Abnormal cortical gyration, Cerebral white matter atrophy, Abnormal substantia nigra morphology, ... |
ORPHA:98756 |
Orofaciodigital Syndrome I |
|
Abnormal cortical gyration, Hypertension, High palate, Cleft palate, Myelomeningocele, Hepatic fi... |
OMIM:311200 |
Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Hyperechogenic pancreas, Inte... |
OMIM:605039 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure, Death in infancy, Lethargy |
OMIM:619386 |
Neurodegeneration With Brain Iron Accumulation 2A |
|
Optic atrophy, Cerebellar atrophy, Neurodegeneration, Neuronal loss in central nervous system, Gl... |
OMIM:256600 |
Neu-Laxova Syndrome |
|
Abnormality of neuronal migration, Cleft palate, Polymicrogyria, Cerebellar hypoplasia, Abnormal ... |
ORPHA:2671 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Optic atrophy, Cyanosis, Apnea, Cerebral atrophy |
OMIM:261680 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Respiratory failure, Respiratory insufficiency |
OMIM:313420 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Optic atrophy, Optic neuropathy, Dystonia, Respiratory insufficiency, Patent ductus arteriosus, T... |
OMIM:610505 |
Loeffler Endocarditis |
|
Left atrial enlargement, Pericarditis, Endocardial fibrosis, Mitral regurgitation, Abnormal morph... |
ORPHA:75566 |
Nodular Neuronal Heterotopia |
|
Abnormality of neuronal migration |
ORPHA:2149 |
Acrofacial Dysostosis 1, Nager Type |
|
Ventricular septal defect, Aganglionic megacolon, Cleft palate, Velopharyngeal insufficiency, Pat... |
OMIM:154400 |
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism |
|
Postural tremor, Optic atrophy, Dystonia, Cerebellar atrophy, Dysmetria, Ataxia, Abnormal upper m... |
OMIM:607694 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic gait, Abnormal upper motor neuron morphology |
OMIM:611637 |
Hyperphosphatasia With Mental Retardation Syndrome 2 |
|
Aganglionic megacolon, Cleft palate, Anal atresia, Ventriculomegaly, Atrial septal defect, Anal s... |
OMIM:614749 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cleft palate, Cerebellar malformation, Hydrocephalus, Polymicrogyria, Cerebellar hypoplasia, Agyr... |
OMIM:236670 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Lobulated tongue, Agenesis of corpus callosum |
OMIM:174300 |
Infant Acute Respiratory Distress Syndrome |
|
Hypoxemia, Pneumonia, Tachypnea, Cyanosis, Respiratory failure, Nasal flaring, Atelectasis |
ORPHA:70587 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Gait disturbance, Axonal loss, Caudate atrophy, Peripheral demyelination, Gliosis, Cerebral atrop... |
OMIM:221770 |
Juvenile Primary Lateral Sclerosis |
|
Spastic gait, Gait imbalance, Abnormal upper motor neuron morphology |
ORPHA:247604 |
Growth Hormone Deficiency, Isolated Partial |
|
Small pituitary gland, Decreased response to growth hormone stimulation test, Postnatal growth re... |
OMIM:615925 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Dilated cardiomyopathy, Abnormality of neuronal migration, Hepatic calcification, High palate, He... |
OMIM:608836 |
Joubert Syndrome With Hepatic Defect |
|
Abnormality of neuronal migration, Hepatomegaly, Intrahepatic biliary atresia, Congenital hepatic... |
ORPHA:1454 |
Congenital Myasthenic Syndrome |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Respiratory arrest, Stridor, Apneic episodes precipitated by illness, fatigue, stress, Obstructiv... |
ORPHA:98914 |
Neurocutaneous Melanocytosis |
|
Dandy-Walker malformation, Meningocele, Abnormality of neuronal migration, Chiari malformation, I... |
ORPHA:2481 |
Familial Hyperaldosteronism Type Iii |
|
Adrenal hyperplasia, Abnormal circulating renin, Glucocortocoid-insensitive primary hyperaldoster... |
ORPHA:251274 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Abnormal pons morphology, Cerebellar cyst, Ventriculomegaly, Abnormal brainstem morphology, Cereb... |
ORPHA:370997 |
Coffin-Lowry Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, High palate, Skeletal muscle atrophy, Abnormal ... |
ORPHA:192 |
Primary Pulmonary Hypoplasia |
|
Abnormal breath sound, Hypoxemia, Neonatal respiratory distress, Tachypnea, Pneumothorax, Failure... |
ORPHA:2257 |
Brain Small Vessel Disease 2 |
|
Intracranial hemorrhage, Schizencephaly, Ventriculomegaly, Subcortical heterotopia, Porencephalic... |
OMIM:614483 |
Acute Interstitial Pneumonia |
|
Hypoxemia, Crackles, Bronchiectasis, Tachypnea, Cyanosis, Decreased DLCO, Nonproductive cough, Re... |
ORPHA:79126 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Dysphagia, Ragged-red muscle fibers, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:258450 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Optic disc pallor, Stillbirth, Cerebral atrophy, Respiratory failure |
OMIM:259720 |
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities |
|
Optic atrophy, Partial agenesis of the corpus callosum, High palate, Hypoplasia of the pons, Arth... |
OMIM:619512 |
Joubert Syndrome 31 |
|
Hypoplasia of the corpus callosum, Molar tooth sign on MRI, Ventriculomegaly |
OMIM:617761 |
19P13.12 Microdeletion Syndrome |
|
Ventricular septal defect, Cleft palate, Mitral regurgitation, Aortic regurgitation, Aplasia/Hypo... |
ORPHA:254346 |
Maternal Hyperthermia-Induced Birth Defects |
|
Abnormality of neuronal migration, Cleft palate, Microcephaly |
ORPHA:2216 |
Congenital Adrenal Hyperplasia Due To 3-Beta-Hydroxysteroid Dehydrogenase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
ORPHA:90791 |
Joubert Syndrome 6 |
|
Hepatic fibrosis, Bile duct proliferation, Thickened superior cerebellar peduncle, Cerebellar ver... |
OMIM:610688 |
Optic Atrophy 8 |
|
Optic atrophy, Abnormal auditory evoked potentials, Mitral valve prolapse, Mitral regurgitation, ... |
OMIM:616648 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Dystonia, Cerebellar atrophy, Dysmetria, Neurodegeneration, Axonal degeneration, Bradykinesia, Tr... |
OMIM:615157 |
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies |
|
Communicating hydrocephalus, Optic atrophy, Colpocephaly, Simplified gyral pattern, Ventriculomeg... |
OMIM:615219 |
Smith-Lemli-Opitz Syndrome |
|
Dandy-Walker malformation, Pyloric stenosis, Ventricular septal defect, Aganglionic megacolon, Cl... |
OMIM:270400 |
Myopathy, Centronuclear, X-Linked |
|
Respiratory failure, Neonatal respiratory distress, Respiratory failure requiring assisted ventil... |
OMIM:310400 |
Cerebrofacioarticular Syndrome |
|
Dysplastic corpus callosum, Abnormal heart morphology, Absence of pubertal development, Pulmonic ... |
ORPHA:314679 |
Fryns Syndrome |
|
Dandy-Walker malformation, Ectopic pancreatic tissue, Ventricular septal defect, Aganglionic mega... |
OMIM:229850 |
Joubert Syndrome 18 |
|
Ventricular septal defect, Molar tooth sign on MRI, Camptodactyly |
OMIM:614815 |
Laryngotracheoesophageal Cleft |
|
Neonatal respiratory distress, Stridor, Cough, Aspiration, Cyanosis, Dyspnea |
ORPHA:2004 |
Hyperaldosteronism, Familial, Type Iii |
|
Adrenal hyperplasia, Hyperaldosteronism, Decreased circulating renin level |
OMIM:613677 |
Holoprosencephaly |
|
Abnormality of neuronal migration, Aplasia/Hypoplasia of the cerebellum, Hydrocephalus, Diabetes ... |
ORPHA:2162 |
Li-Ghorbani-Weisz-Hubshman Syndrome |
|
Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Ventriculomegal... |
OMIM:618974 |
Abcd Syndrome |
|
Abnormal auditory evoked potentials, Aganglionic megacolon |
OMIM:600501 |
Hydrocephalus Due To Congenital Stenosis Of Aqueduct Of Sylvius |
|
Flexion contracture of thumb, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosu... |
OMIM:307000 |
Thanatophoric Dysplasia |
|
Patent ductus arteriosus, Ventriculomegaly, Atrial septal defect, Hydrocephalus, Gray matter hete... |
ORPHA:2655 |
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius |
|
Holoprosencephaly, Absent septum pellucidum, Hydrocephalus, Agenesis of corpus callosum, Aqueduct... |
ORPHA:2182 |
Orofaciodigital Syndrome Type 6 |
|
Abnormality of neuronal migration, Cleft palate, High palate, Hamartoma of tongue, Hypothalamic h... |
ORPHA:2754 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Respiratory failure, Dyspnea, Respiratory insufficiency due to muscle weakness, Cerebellar atrophy |
ORPHA:352447 |
Congenital Pulmonary Lymphangiectasia |
|
Chronic pulmonary obstruction, Pulmonary arterial hypertension, Cough, Respiratory distress, Cyan... |
ORPHA:2414 |
Fanconi Anemia |
|
Cleft palate, Duodenal stenosis, Abnormality of the hypothalamus-pituitary axis, Patent ductus ar... |
ORPHA:84 |
Obesity-Hypoventilation Syndrome |
|
Obesity, Cyanosis, Hypoventilation |
OMIM:257500 |
Primary Pigmented Nodular Adrenocortical Disease |
|
Adrenal hyperplasia, Increased urinary cortisol level, Type II diabetes mellitus, Increased circu... |
ORPHA:189439 |
Naxos Disease |
|
Dilated cardiomyopathy, Syncope, Paroxysmal ventricular tachycardia, Premature ventricular contra... |
OMIM:601214 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Intercostal muscle weakness, Stridor, Obstructive sleep apnea, Decreased distal sensory nerve act... |
OMIM:606071 |
Meckel Syndrome, Type 10 |
|
Cleft palate, Molar tooth sign on MRI, Anencephaly |
OMIM:614175 |
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome |
|
Dystonia, Failure to thrive, Simplified gyral pattern, Intention tremor, Acrocyanosis, Truncal at... |
OMIM:614407 |
Oculocerebrocutaneous Syndrome |
|
Dandy-Walker malformation, Cleft palate, Gray matter heterotopia, Cryptorchidism, Hypoplasia of t... |
OMIM:164180 |
Periventricular Nodular Heterotopia 1 |
|
Abnormality of neuronal migration, Bicuspid aortic valve, Gray matter heterotopia, Patent ductus ... |
OMIM:300049 |
Hirschsprung Disease With Hypoplastic Nails And Dysmorphic Facial Features |
|
Aganglionic megacolon, Anal atresia |
OMIM:235760 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Left ventricular noncompaction cardiomyopathy, High, narrow palate, Ventricular septal defect, Pi... |
OMIM:300967 |
Waardenburg-Shah Syndrome |
|
Intestinal obstruction, Abnormal intestine morphology, Aganglionic megacolon, Olfactory lobe agen... |
ORPHA:897 |
16P13.11 Microdeletion Syndrome |
|
Abnormality of neuronal migration, Ventricular septal defect, Cleft palate, Holoprosencephaly, Ve... |
ORPHA:261236 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar cyst, Dilated fourth ventricle, Cerebellar dysplasia, Inferior vermis hypoplasia, Abno... |
ORPHA:370022 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Paroxysmal dyspnea, Stridor, Failure to thrive, Cyanosis, Respiratory failure |
ORPHA:444013 |
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease |
|
Decreased motor nerve conduction velocity, Hepatomegaly, Contractures involving the joints of the... |
ORPHA:456312 |
Infantile Krabbe Disease |
|
Optic atrophy, Cachexia, Opisthotonus, Failure to thrive, Decreased nerve conduction velocity, Re... |
ORPHA:206436 |
Spastic Paraplegia 79, Autosomal Recessive |
|
Optic atrophy, Cerebellar atrophy, Head titubation, Dysmetria, Neurodegeneration, Intention tremo... |
OMIM:615491 |
Cerebellar Ataxia, Brain Abnormalities, And Cardiac Conduction Defects |
|
Optic atrophy, Dysphagia, Cerebellar atrophy, Mitral regurgitation, Tricuspid regurgitation, Pach... |
OMIM:619576 |
Fixed Subaortic Stenosis |
|
Bicuspid aortic valve, Syncope, Patent ductus arteriosus, Ventricular septal defect, Mitral regur... |
ORPHA:3092 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Absent hippocampal commissure, Abnormality of the anterior commissure, Hypoplasia of the pons, Hy... |
OMIM:617542 |
Sick Sinus Syndrome 2 |
|
Sinus bradycardia, Mitral valve prolapse, Atrial fibrillation, Aortic regurgitation, Left ventric... |
OMIM:163800 |
Paragangliomas 1 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Glomus tympanicum paraganglioma, Chemode... |
OMIM:168000 |
Alexander Disease |
|
Abnormal autonomic nervous system physiology, Dysphagia, High palate, Hypertension, Megalencephal... |
ORPHA:58 |
Fg Syndrome Type 1 |
|
Pyloric stenosis, High palate, Abnormal large intestine morphology, Mitral valve prolapse, Optic ... |
ORPHA:93932 |
Tatton-Brown-Rahman Syndrome |
|
Neuroendocrine neoplasm, Chiari malformation, Mitral regurgitation, Patent ductus arteriosus, Ven... |
ORPHA:404443 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Death in infancy, Polymicrogyria, Opisthotonus |
OMIM:610678 |
Secondary Short Bowel Syndrome |
|
Central hypothyroidism, Aganglionic megacolon, Villous atrophy, Abnormality of the small intestin... |
ORPHA:95427 |
Hirschsprung Disease |
|
Aganglionic megacolon, Functional abnormality of the gastrointestinal tract, Neoplasm of the thyr... |
ORPHA:388 |
Joubert Syndrome 16 |
|
Dandy-Walker malformation, Molar tooth sign on MRI |
OMIM:614465 |
22Q11.2 Deletion Syndrome |
|
Arrhinencephaly, Cleft palate, Truncus arteriosus, Hypoplasia of the thymus, Patent ductus arteri... |
ORPHA:567 |
Joubert Syndrome 35 |
|
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Elongated superior cerebellar peduncle |
OMIM:618161 |
Waardenburg Syndrome, Type 3 |
|
Aganglionic megacolon, Joint contracture of the hand, Camptodactyly of finger, Scapular winging, ... |
OMIM:148820 |
Cyanosis, Transient Neonatal |
|
Cyanosis, Jaundice |
OMIM:613977 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Respiratory failure, Death in infancy |
OMIM:618240 |
Joubert Syndrome 28 |
|
Optic disc pallor, Molar tooth sign on MRI |
OMIM:617121 |
Hirschsprung Disease With Type D Brachydactyly |
|
Aganglionic megacolon |
OMIM:306980 |
Periventricular Nodular Heterotopia |
|
Pyloric stenosis, Periventricular heterotopia, Aortic regurgitation, Patent ductus arteriosus, Ab... |
ORPHA:98892 |
Smith-Lemli-Opitz Syndrome |
|
Pyloric stenosis, Optic atrophy, Ventricular septal defect, Aganglionic megacolon, Cleft palate, ... |
ORPHA:818 |
Idiopathic Camptocormia |
|
Dystonia, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis, Cerebral atrophy |
ORPHA:1320 |
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome |
|
Abnormality of neuronal migration, Optic atrophy, Aplasia/Hypoplasia of the cerebellum, Cerebral ... |
ORPHA:2518 |
Ménétrier Disease |
|
Stomach cancer, Helicobacter pylori infection, Abnormal gastric mucosa morphology, Multiple gastr... |
ORPHA:2494 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Left atrial enlargement, Left ventricular no... |
OMIM:619424 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Abnormality of neuronal migration, Ankle flexion contracture, Ventricular septal defect, Optic di... |
ORPHA:464311 |
Arima Syndrome |
|
Occipital meningocele, Hepatomegaly, Brainstem dysplasia, Hepatic fibrosis, Agenesis of cerebella... |
OMIM:243910 |
16Q24.3 Microdeletion Syndrome |
|
Dilated cardiomyopathy, Dysphagia, High palate, Ventricular septal defect, Mitral regurgitation, ... |
ORPHA:261250 |
Hirschsprung Disease-Type D Brachydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2150 |
Benign Familial Infantile Epilepsy |
|
Cyanosis, Apnea |
ORPHA:306 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Degeneration of the lateral corticospinal tracts, Global brain atrophy, Gliosis, Progressive cere... |
ORPHA:275872 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Bicuspid aortic valve, Abnormal aortic valve morphology, Atrioventricular canal defect, Congenita... |
ORPHA:1120 |
Paragangliomas 3 |
|
Adrenal pheochromocytoma, Extraadrenal pheochromocytoma, Chemodectoma, Elevated circulating catec... |
OMIM:605373 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Ventricular septal defect, Cleft palate, Hepatic fibrosis, Hamartoma of tongue, Microglossia, Int... |
OMIM:263520 |
Hirschsprung Disease-Deafness-Polydactyly Syndrome |
|
Aganglionic megacolon |
ORPHA:2155 |
Avian Influenza |
|
Productive cough, Hypoxemia, Pneumonia, Tachypnea, Pneumothorax, Cough, Respiratory distress, Non... |
ORPHA:454836 |
Galloway-Mowat Syndrome |
|
Abnormality of neuronal migration, Pachygyria, Hiatus hernia, Camptodactyly of finger, Microcepha... |
ORPHA:2065 |
Perlman Syndrome |
|
High, narrow palate, Hepatomegaly, Abnormal pancreas morphology, Cryptorchidism, Hyperinsulinemia |
ORPHA:2849 |
Hirschsprung Disease With Polydactyly, Renal Agenesis, And Deafness |
|
Aganglionic megacolon |
OMIM:235740 |
Peripartum Cardiomyopathy |
|
Dilated cardiomyopathy, Myocarditis, Left atrial enlargement, Right ventricular failure, Abnormal... |
ORPHA:563 |
Metatropic Dysplasia |
|
Respiratory failure, Peripheral axonal neuropathy, Respiratory insufficiency |
OMIM:156530 |
Proximal Spinal Muscular Atrophy |
|
Neonatal respiratory distress, Recurrent aspiration pneumonia, Intercostal muscle weakness, Facia... |
ORPHA:70 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Optic atrophy, Failure to thrive, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:2707 |
Multiple Endocrine Neoplasia Type 2 |
|
Elevated circulating parathyroid hormone level, Paraganglioma of head and neck, Pheochromocytoma,... |
ORPHA:653 |
Down Syndrome |
|
Complete atrioventricular canal defect, Aganglionic megacolon, Duodenal stenosis, Macroglossia, A... |
OMIM:190685 |
Schinzel-Giedion Syndrome |
|
Central hypothyroidism, Dysphagia, High palate, Aganglionic megacolon, Neural tube defect, Streak... |
ORPHA:798 |
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart |
|
Optic atrophy, Ventricular septal defect, High palate, Duodenal atresia, Annular pancreas, Hypopl... |
OMIM:616975 |
Renal-Hepatic-Pancreatic Dysplasia 1 |
|
Dandy-Walker malformation, Hepatomegaly, Hepatic fibrosis, Asplenia, Pancreatic cysts, Bile duct ... |
OMIM:208540 |
Monosomy 18Q |
|
Left-to-right shunt, High palate, Diffuse white matter abnormalities, Mitral regurgitation, Secon... |
ORPHA:1600 |
Cardiomyopathy, Dilated, 1S |
|
Dilated cardiomyopathy, Bicuspid aortic valve, Ventricular arrhythmia, Tricuspid regurgitation, C... |
OMIM:613426 |
Autoimmune Pulmonary Alveolar Proteinosis |
|
Hypoxemia, Crackles, Weight loss, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect... |
ORPHA:747 |
Cushing Syndrome Due To Macronodular Adrenal Hyperplasia |
|
Macronodular adrenal hyperplasia, Abnormal response to corticotropin releasing hormone stimulatio... |
ORPHA:189427 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Adrenal hyperplasia, Abnormal circulating renin, Hyperaldosteronism |
ORPHA:369929 |
Igg4-Related Ophthalmic Disease |
|
Eosinophilia, Abnormality of infra-orbital nerve, Abnormal fifth cranial nerve morphology |
ORPHA:449563 |
Joubert Syndrome 40 |
|
Optic nerve hypoplasia, Molar tooth sign on MRI |
OMIM:619582 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis |
OMIM:619132 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic neuropathy, Death in infancy, Optic disc pallor, Respiratory insufficiency, Cerebellar atro... |
OMIM:252010 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Primary Unilateral Adrenal Hyperplasia |
|
Adrenal hyperplasia, Decreased circulating renin level, Glucocortocoid-insensitive primary hypera... |
ORPHA:231580 |
Autosomal Recessive Primary Microcephaly |
|
Hypoplasia of the frontal lobes, Ventriculomegaly, Pachygyria, Gray matter heterotopia, Agenesis ... |
ORPHA:2512 |
Polyglucosan Body Neuropathy, Adult Form |
|
Orthostatic hypotension, Gait disturbance, Peripheral axonal neuropathy, Abnormal upper motor neu... |
OMIM:263570 |
Piebald Trait-Neurologic Defects Syndrome |
|
Aganglionic megacolon |
ORPHA:2885 |
Permanent Neonatal Diabetes Mellitus-Pancreatic And Cerebellar Agenesis Syndrome |
|
Aplasia/Hypoplasia of the pancreas, Optic nerve hypoplasia, Neonatal insulin-dependent diabetes m... |
ORPHA:65288 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency, Failure to thrive |
OMIM:609981 |
Alg1-Cdg |
|
Respiratory failure, Cerebellar atrophy, Cerebral atrophy |
ORPHA:79327 |
Bohring-Opitz Syndrome |
|
Dandy-Walker malformation, Optic atrophy, Cleft palate, Annular pancreas, Cardiomegaly, Cholelith... |
ORPHA:97297 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Cerebellar atrophy, Periventricular nodular heterotopia, Facial hypotonia, Patent ductus arterios... |
OMIM:618659 |
Pulmonary Alveolar Proteinosis, Acquired |
|
Hypoxemia, Pneumonia, Cough, Cyanosis, Decreased DLCO, Restrictive ventilatory defect, Dyspnea |
OMIM:610910 |
Breath-Holding Spells |
|
Cyanosis |
OMIM:607578 |
Leukoencephalopathy With Dystonia And Motor Neuropathy |
|
Torticollis, Head tremor, Abnormal motor neuron morphology, Intention tremor |
OMIM:613724 |
Acute Lung Injury |
|
Hypoxemia, Pneumonia, Tachypnea, Respiratory distress, Respiratory failure, Dyspnea |
ORPHA:178320 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Restrictive ventilatory defect, Gliosis, Respiratory failure, Inability to walk, Cardiorespirator... |
ORPHA:26791 |
Waardenburg Syndrome, Type 4B |
|
Aganglionic megacolon |
OMIM:613265 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Optic atrophy, Dystonia, Cerebellar atrophy, Motor axonal neuropathy, Ataxia, Recurrent pneumonia... |
ORPHA:496641 |
Hirschsprung Disease, Susceptibility To, 2 |
|
Aganglionic megacolon |
OMIM:600155 |
Hirschsprung Disease, Susceptibility To, 5 |
|
Aganglionic megacolon |
OMIM:600156 |
Hirschsprung Disease, Susceptibility To, 3 |
|
Aganglionic megacolon |
OMIM:613711 |
Hirschsprung Disease, Susceptibility To, 4 |
|
Aganglionic megacolon |
OMIM:613712 |
Waardenburg Syndrome Type 2 |
|
Aganglionic megacolon |
ORPHA:895 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Degeneration of anterior horn cells |
OMIM:271225 |
Reynolds Syndrome |
|
Hepatomegaly, Dysphagia, Abnormal gastric mucosa morphology, Xerostomia, Telangiectasia of the sk... |
ORPHA:779 |
Pfeiffer Syndrome Type 2 |
|
High palate, Cleft palate, Chiari malformation, Intestinal malrotation, Anal atresia, Hydrocephal... |
ORPHA:93259 |
Congenital Lipoid Adrenal Hyperplasia Due To Star Deficency |
|
Adrenal hyperplasia, Macroorchidism, Hyperactive renin-angiotensin system, Abnormal circulating a... |
ORPHA:90790 |
Williams Syndrome |
|
Bicuspid aortic valve, Rectal prolapse, Abnormal gastric mucosa morphology, Patent ductus arterio... |
ORPHA:904 |
Bardet-Biedl Syndrome 1 |
|
High, narrow palate, Abnormality of the ovary, Aganglionic megacolon, High palate, Hepatic fibros... |
OMIM:209900 |
Joubert Syndrome 9 |
|
Molar tooth sign on MRI, Hepatic fibrosis, Ventriculomegaly |
OMIM:612285 |
Meckel Syndrome |
|
Dandy-Walker malformation, Optic atrophy, Cleft palate, Anencephaly, Lobar holoprosencephaly, Asp... |
ORPHA:564 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Respiratory failure, Death in infancy, Cerebral cortical atrophy |
ORPHA:1194 |
Orofaciodigital Syndrome Type 14 |
|
Dilated third ventricle, Dandy-Walker malformation, Ventricular septal defect, Cleft palate, Part... |
ORPHA:434179 |
Congenital Tracheomalacia |
|
Wheezing, Productive cough, Neonatal respiratory distress, Stridor, Respiratory insufficiency, Tr... |
ORPHA:95430 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Respiratory failure, Torticollis |
ORPHA:75840 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Cerebellar atrophy, Opisthotonus, Apnea, Ataxia, Inability to walk, Cyanosis, Attention deficit h... |
OMIM:619580 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Respiratory failure, Difficulty walking, Nocturnal hypoventilation, Reduced vital capacity |
OMIM:603689 |
Charge Syndrome |
|
Cleft palate, Patent ductus arteriosus, Aplasia/Hypoplasia of the cerebellum, Anterior hypopituit... |
ORPHA:138 |
Waardenburg Syndrome, Type 4A |
|
Aganglionic megacolon |
OMIM:277580 |
Cardiomyopathy, Dilated, 1Kk |
|
Hypertrophic cardiomyopathy, Dilated cardiomyopathy, Atrial fibrillation, Mitral regurgitation, V... |
OMIM:615248 |
Maternal Uniparental Disomy Of Chromosome 6 |
|
Increased serum testosterone level, Congenital adrenal hyperplasia, Hydrocele testis |
ORPHA:96181 |
47,Xyy Syndrome |
|
Macroorchidism, Increased serum testosterone level, Dysgenesis of the cerebellar vermis, Cerebell... |
ORPHA:8 |
Dermotrichic Syndrome |
|
Aganglionic megacolon |
ORPHA:99688 |
Dravet Syndrome |
|
Global brain atrophy, Bradykinesia, Progressive gait ataxia, Action tremor, Cyanotic episode |
ORPHA:33069 |
Generalized Glucocorticoid Resistance Syndrome |
|
Adrenal hyperplasia, Decreased circulating aldosterone level, Increased urinary cortisol level, I... |
ORPHA:786 |
Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Pachygyria, Hypoplasia of the brainstem, Polymicrogyria, Hypoplasia of the... |
OMIM:609460 |
Waardenburg Syndrome Type 1 |
|
Meningocele, Aganglionic megacolon, Cleft palate, Spina bifida |
ORPHA:894 |
Cartilage-Hair Hypoplasia |
|
Hepatomegaly, Aplasia/Hypoplasia of the abdominal wall musculature, Aganglionic megacolon, Cardio... |
ORPHA:175 |
Vici Syndrome |
|
Dilated cardiomyopathy, Myopathy, Cleft palate, Schizencephaly, Cardiomyopathy, Left ventricular ... |
OMIM:242840 |
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form |
|
Failure to thrive in infancy, Lissencephaly, Simplified gyral pattern, Cyanotic episode |
ORPHA:284417 |
Dubin-Johnson Syndrome |
|
Hepatomegaly, Abnormal gastric mucosa morphology, Abnormality of the liver, Biliary tract abnorma... |
ORPHA:234 |
Leigh Syndrome |
|
Focal T2 hyperintense brainstem lesion, Multiple joint contractures, Neuronal loss in basal gangl... |
ORPHA:506 |
Idiopathic Pulmonary Hemosiderosis |
|
Restrictive ventilatory defect, Crackles, Failure to thrive, Cough, Respiratory failure, Dyspnea |
ORPHA:99931 |
Adrenal Hyperplasia, Congenital, Due To Steroid 11-Beta-Hydroxylase Deficiency |
|
Decreased circulating aldosterone level, Increased serum testosterone level, Increased circulatin... |
OMIM:202010 |
Joubert Syndrome 7 |
|
Hypoplasia of the brainstem, Molar tooth sign on MRI, Brainstem dysplasia, Abnormal corpus callos... |
OMIM:611560 |
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase |
|
Exertional dyspnea, Cyanosis, Opisthotonus |
OMIM:250800 |
Trisomy 8P |
|
Dandy-Walker malformation, Cleft palate, Dysplastic aortic valve, Annular pancreas, Aplasia/Hypop... |
ORPHA:264450 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Optic atrophy, Cerebellar atrophy, Respiratory insufficiency, Failure to thrive, Respiratory failure |
OMIM:618329 |
Jacobsen Syndrome |
|
Pyloric stenosis, Optic atrophy, Ventricular septal defect, Annular pancreas, Holoprosencephaly, ... |
OMIM:147791 |
Central Hypoventilation Syndrome, Congenital, 3 |
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Respiratory failure, Central hypoventilation, Apnea |
OMIM:619483 |
Bilateral Perisylvian Polymicrogyria |
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Abnormality of neuronal migration, Distal arthrogryposis, Dysphagia, Limb hypertonia, Pseudobulba... |
ORPHA:98889 |
Polyvalvular Heart Disease Syndrome |
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High palate, Mitral valve prolapse, Tricuspid regurgitation, Pulmonic stenosis, Abnormal heart va... |
ORPHA:228410 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
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Hypertrophic cardiomyopathy, Optic atrophy, Mitral regurgitation, Macroglossia, Abnormal heart mo... |
ORPHA:505248 |
Duplication Of The Pituitary Gland |
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Abnormal midbrain morphology, Cleft palate, Abnormal hypothalamus morphology, Volvulus, Abnormali... |
ORPHA:314621 |
Partial Atrioventricular Septal Defect |
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Bicuspid aortic valve, Bacterial endocarditis, Syncope, Partial atrioventricular canal defect, Mi... |
ORPHA:1330 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
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Dandy-Walker malformation, Cleft palate, Patent ductus arteriosus, Anal atresia, Bifid tongue, Mo... |
OMIM:616300 |
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age |
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Ventricular septal defect, Periventricular heterotopia, Patent ductus arteriosus, Ventriculomegal... |
OMIM:618870 |
Shprintzen-Goldberg Syndrome |
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Communicating hydrocephalus, High, narrow palate, Chiari malformation, Mitral valve prolapse, Apl... |
ORPHA:2462 |
Aicardi Syndrome |
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Dilated third ventricle, Dandy-Walker malformation, Optic atrophy, Cleft palate, Partial agenesis... |
OMIM:304050 |
Bickerstaff Brainstem Encephalitis |
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Decreased motor nerve conduction velocity, Abnormal cranial nerve morphology, Pneumonia, Hypercap... |
ORPHA:79138 |
Orofaciodigital Syndrome Type 5 |
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High, narrow palate, Aganglionic megacolon, Cleft soft palate, Bifid uvula, Bifid tongue, Tetralo... |
ORPHA:2919 |
Subependymal Nodular Heterotopia |
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Meningocele, Abnormality of neuronal migration, Partial agenesis of the corpus callosum, Myelomen... |
ORPHA:101030 |
Ring Chromosome 10 Syndrome |
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Aganglionic megacolon |
ORPHA:1438 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 7 |
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Hypertrophic cardiomyopathy, Ventricular hypertrophy, Pulmonary arterial hypertension, Cardiomega... |
OMIM:619051 |
Aceruloplasminemia |
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Abnormal corpus striatum morphology, Elevated hepatic iron concentration, Abnormal pancreas morph... |
ORPHA:48818 |
Duane-Radial Ray Syndrome |
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Ventricular septal defect, Aganglionic megacolon, Facial palsy, Pectoralis hypoplasia, Anal atres... |
OMIM:607323 |
Brain-Lung-Thyroid Syndrome |
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Dystonia, Neonatal respiratory distress, Failure to thrive, Pulmonary arterial hypertension, Fall... |
ORPHA:209905 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
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Cerebral calcification, Splenomegaly, Intestinal malrotation, Aqueductal stenosis |
ORPHA:3035 |
Adult Acute Respiratory Distress Syndrome |
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Hypoxemia, Pneumonia, Abnormal blood gas level, Respiratory failure, Dyspnea |
ORPHA:70578 |
Cryofibrinogenemia, Familial Primary |
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Acrocyanosis |
OMIM:123540 |
3-Hydroxyisobutyric Aciduria |
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Abnormality of neuronal migration, Cong |