Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
OMIM:612577 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology |
DECIPHER:29 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Amyotrophic Lateral Sclerosis 19 |
|
Amyotrophic lateral sclerosis |
OMIM:615515 |
Spinal Muscular Atrophy, Segmental |
|
Abnormal anterior horn cell morphology |
OMIM:183020 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:205200 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Amyotrophic lateral sclerosis |
OMIM:614373 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Amyotrophic lateral sclerosis |
OMIM:205250 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608030 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral atrophy |
OMIM:105500 |
Monomelic Amyotrophy |
|
Degeneration of anterior horn cells, Abnormality of peripheral nerve conduction |
ORPHA:65684 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis |
OMIM:611895 |
Primary Lateral Sclerosis, Adult, 1 |
|
Abnormal upper motor neuron morphology |
OMIM:611637 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis |
OMIM:619141 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Amyotrophic lateral sclerosis, Caudate atrophy, Hippocampal atrophy |
OMIM:617892 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... |
OMIM:602433 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:616437 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology |
OMIM:607641 |
Amyotrophic Lateral Sclerosis 1 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis, Degeneration of the lateral c... |
OMIM:105400 |
Amyotrophic Lateral Sclerosis 18 |
|
Amyotrophic lateral sclerosis |
OMIM:614808 |
Spinal Muscular Atrophy, Type Ii |
|
Degeneration of anterior horn cells |
OMIM:253550 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis |
OMIM:615426 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:602099 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Motor neuron atrophy, Frontotemporal cerebral atrophy, Spinocerebellar ... |
ORPHA:412066 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:613435 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Neuronal loss in central n... |
OMIM:105550 |
Juvenile Primary Lateral Sclerosis |
|
Abnormal upper motor neuron morphology |
ORPHA:247604 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:300857 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:600274 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:612069 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Chorioretinal dystrophy, Retinal dystrophy, Spinocerebellar atrophy, Abnormal... |
OMIM:215470 |
Primary Lateral Sclerosis, Juvenile |
|
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude, Cer... |
OMIM:606353 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:619133 |
Spinal Muscular Atrophy, Type Iii |
|
Degeneration of anterior horn cells |
OMIM:253400 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:613869 |
Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system |
OMIM:608627 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis |
OMIM:613954 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Decreased nerve conduction... |
OMIM:606070 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:95434 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology |
OMIM:611067 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Cerebral cortical atrophy |
OMIM:615911 |
Sudden Infant Death Syndrome |
|
Apneic episodes in infancy |
OMIM:272120 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4B |
|
Neonatal death, Apnea |
OMIM:615228 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency |
OMIM:611722 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Degeneration of anterior horn cells, Facial palsy |
OMIM:159950 |
Amyotrophic Lateral Sclerosis |
|
Motor neuron atrophy, Amyotrophic lateral sclerosis, Neurodegeneration |
ORPHA:803 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Degeneration of anterior horn cells, Axonal degeneration |
OMIM:604484 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology |
OMIM:607225 |
Butyrylcholinesterase Deficiency |
|
Apnea |
OMIM:617936 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:605809 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,... |
ORPHA:35689 |
Dystonia 31 |
|
Abnormal posturing, Dysphagia |
OMIM:619565 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Paucity of anterior horn motor neurons, Facial diplegia, Abnormal anterior horn cell morphology, ... |
OMIM:611890 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Cranial nerve compression, Abnormal motor neuron morphology, Brain... |
ORPHA:52430 |
Spinal Muscular Atrophy, Type Iv |
|
Degeneration of anterior horn cells |
OMIM:271150 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Pontocerebellar Hypoplasia Type 1 |
|
Degeneration of anterior horn cells, Optic atrophy, Cerebral cortical atrophy |
ORPHA:2254 |
Phosphoserine Aminotransferase Deficiency |
|
Death in infancy, Apnea |
OMIM:610992 |
Ravine Syndrome |
|
Apnea, Anorexia |
ORPHA:99852 |
Polyglucosan Body Neuropathy, Adult Form |
|
Abnormal upper motor neuron morphology, Orthostatic hypotension |
OMIM:263570 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Abnormal upper motor neuron morphology, EEG abnormality, Caudate atrophy, Cerebral atrophy |
OMIM:221770 |
Congenital Myopathy 14 |
|
Respiratory insufficiency due to muscle weakness, Death in infancy, Respiratory failure, Apnea |
OMIM:618414 |
Pontocerebellar Hypoplasia, Type 1A |
|
Degeneration of anterior horn cells, Cerebral cortical atrophy |
OMIM:607596 |
Seizures, Benign Familial Infantile, 3 |
|
Apnea |
OMIM:607745 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Degeneration of the lateral corticospinal tracts, Global ... |
ORPHA:275872 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons |
OMIM:253310 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis |
ORPHA:600 |
Myoclonus, Intractable, Neonatal |
|
Impaired oral bolus formation, Apnea, Dysphagia |
OMIM:617235 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Neonatal death, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:610127 |
Seizures, Benign Familial Infantile, 1 |
|
Apnea |
OMIM:601764 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Death in infancy, Respiratory failure, Apnea |
OMIM:616277 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Degeneration of anterior horn cells, Abnormal anterior horn cell morphology |
ORPHA:1145 |
Severe Neurodevelopmental Disorder With Feeding Difficulties-Stereotypic Hand Movement-Bilateral Cataract |
|
Apneic episodes in infancy, Stereotypical hand wringing |
ORPHA:500545 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Degeneration of anterior horn cells, Decreased nerve conduction velocity, Axonal degeneration |
OMIM:604320 |
Pontocerebellar Hypoplasia Type 4 |
|
Central apnea, Respiratory failure requiring assisted ventilation |
ORPHA:166063 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618198 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro... |
OMIM:205100 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Death in infancy, Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, ... |
OMIM:265120 |
Severe Neonatal-Onset Encephalopathy With Microcephaly |
|
Apnea, Respiratory insufficiency |
ORPHA:209370 |
Ane Syndrome |
|
Motor neuron atrophy |
ORPHA:157954 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea |
OMIM:614198 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Joubert Syndrome 23 |
|
Tachypnea, Apnea |
OMIM:616490 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology |
ORPHA:2590 |
Sudden Infant Death With Dysgenesis Of The Testes Syndrome |
|
Exaggerated startle response, Apnea, Cardiorespiratory arrest, Stridor, Bronchospasm, Abnormal pa... |
OMIM:608800 |
Idiopathic Camptocormia |
|
Cerebral atrophy, Amyotrophic lateral sclerosis, Syringomyelia, Myelitis |
ORPHA:1320 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Leukodystrophy, Hypomyelinating, 4 |
|
Head titubation, Apnea |
OMIM:612233 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Degeneration of anterior horn cells, ... |
ORPHA:276244 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Apnea, Death in childhood |
OMIM:618225 |
Mitochondrial Complex I Deficiency, Nuclear Type 13 |
|
Death in infancy, Apnea |
OMIM:618235 |
Developmental And Epileptic Encephalopathy 61 |
|
Apnea |
OMIM:617933 |
Atypical Rett Syndrome |
|
Restrictive behavior, Sudden episodic apnea, Episodic tachypnea, Tongue thrusting, Agitation, Ina... |
ORPHA:3095 |
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent |
|
Apnea, Respiratory insufficiency |
OMIM:617290 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Respiratory failure, Apnea, Central hypoventilation, Dysphagia |
OMIM:618233 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Degeneration of anterior horn cells |
OMIM:271225 |
Progressive Non-Fluent Aphasia |
|
Abnormal lower motor neuron morphology, Temporal cortical atrophy, Frontotemporal cerebral atroph... |
ORPHA:100070 |
Mitochondrial Complex I Deficiency, Nuclear Type 14 |
|
Apnea |
OMIM:618236 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Apnea, Respiratory insufficiency, Dysphagia |
OMIM:618226 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Death in adolescence, Stillbirth, Dysphagia, Neonatal death, Pulmonary arte... |
OMIM:619751 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology |
ORPHA:93941 |
Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Apnea, Agitation, Bruxism, Recurrent hand flapping, Hyperventilation |
OMIM:617903 |
Hyperekplexia 3 |
|
Respiratory arrest, Exaggerated startle response, Apnea |
OMIM:614618 |
Mohr-Tranebjaerg Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:304700 |
Juvenile Neuronal Ceroid Lipofuscinosis |
|
Apnea, Episodic tachypnea, Aspiration pneumonia, Dysphagia, Abnormal repetitive mannerisms |
ORPHA:79264 |
Pontocerebellar Hypoplasia, Type 6 |
|
Apnea, Death in childhood |
OMIM:611523 |
Benign Familial Neonatal Epilepsy |
|
Apnea |
ORPHA:1949 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Neurological Conditions Associated With Aminoacylase 1 Deficiency |
|
Syringomyelia, Apnea |
ORPHA:137754 |
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations |
|
Apnea, Central hypoventilation, Respiratory insufficiency |
OMIM:300673 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Cough, Attention deficit hyperactivity disorder, Dysphagia, Aspiration pneumonia, Abnormal posturing |
ORPHA:216866 |
Nemaline Myopathy 2 |
|
Respiratory insufficiency due to muscle weakness, Apnea, Dysphagia |
OMIM:256030 |
Mitochondrial Complex I Deficiency, Nuclear Type 6 |
|
Apnea, Respiratory insufficiency |
OMIM:618228 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Neonatal respiratory distress, Apnea, Respiratory failure |
ORPHA:168486 |
Pontocerebellar Hypoplasia, Type 16 |
|
Apnea, Dysphagia |
OMIM:619527 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Amyotrophic lateral sclerosis |
ORPHA:300605 |
2Q24 Microdeletion Syndrome |
|
Central apnea |
ORPHA:1617 |
Glutamine Deficiency, Congenital |
|
Neonatal death, Neonatal respiratory distress, Apnea |
OMIM:610015 |
Primary Pulmonary Hypoplasia |
|
Neonatal respiratory distress, Apnea, Asthma, Tachypnea, Pneumothorax, Hypoxemia, Restrictive ven... |
ORPHA:2257 |
Benign Familial Neonatal-Infantile Seizures |
|
Apnea |
ORPHA:140927 |
Joubert Syndrome 30 |
|
Tachypnea, Apnea |
OMIM:617622 |
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures |
|
Truncal titubation, Exaggerated startle response, Agitation, Apnea |
OMIM:618056 |
Benign Familial Infantile Epilepsy |
|
Apnea |
ORPHA:306 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 4 |
|
Apnea |
OMIM:619048 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Stridor, Hypoventilation, Apnea, Dysphagia |
OMIM:617143 |
Mitochondrial Complex I Deficiency, Nuclear Type 33 |
|
Apnea, Bronchiectasis, Respiratory insufficiency, Aspiration pneumonia, Dysphagia |
OMIM:618253 |
Joubert Syndrome 33 |
|
Apnea |
OMIM:617767 |
Joubert Syndrome 9 |
|
Apnea, Episodic tachypnea |
OMIM:612285 |
Pontocerebellar Hypoplasia Type 2 |
|
Impaired oropharyngeal swallow response, Apnea, Oral-pharyngeal dysphagia |
ORPHA:2524 |
Hyperekplexia 1 |
|
Aspiration, Exaggerated startle response, Apnea |
OMIM:149400 |
Folinic Acid-Responsive Seizures |
|
Respiratory distress, Apnea |
ORPHA:79097 |
Combined Oxidative Phosphorylation Deficiency 57 |
|
Neonatal death, Death in infancy, Apnea, Central hypoventilation |
OMIM:620167 |
Congenital Myopathy 11 |
|
Neonatal respiratory distress, Apneic episodes in infancy |
OMIM:619967 |
Myotonia Fluctuans |
|
Stridor, Apnea, Choking episodes |
ORPHA:99734 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea |
ORPHA:71277 |
48,Xxyy Syndrome |
|
Abnormal repetitive mannerisms, Asthma, Apnea, Attention deficit hyperactivity disorder |
ORPHA:10 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Apneic episodes in infancy, Episodic tachypnea, Dysphagia |
ORPHA:163961 |
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation |
|
Central apnea |
ORPHA:320385 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Apnea |
OMIM:619797 |
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay |
|
Central apnea |
OMIM:615031 |
Joubert Syndrome 7 |
|
Central apnea, Tachypnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:611560 |
Hypophosphatasia, Infantile |
|
Death in infancy, Stillbirth, Apnea, Anorexia |
OMIM:241500 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Abnormal upper motor neuron morphology, Corpus callosum atrophy |
OMIM:601162 |
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Death in infancy, Apnea |
OMIM:614498 |
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures |
|
Apnea, Impulsivity, Aggressive behavior, Tongue thrusting, Attention deficit hyperactivity disord... |
OMIM:619580 |
Intellectual Developmental Disorder, X-Linked, Syndromic 13 |
|
Restlessness, Apnea, Bruxism |
OMIM:300055 |
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type) |
|
Apnea |
OMIM:616896 |
Peroxisome Biogenesis Disorder 11A (Zellweger) |
|
Apnea |
OMIM:614883 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Respiratory failure, Apneic episodes precipitated by illness, fatigue, stress |
OMIM:312170 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Respiratory failure, Apnea, Exaggerated startle response, Dysphagia |
OMIM:617301 |
Developmental And Epileptic Encephalopathy 99 |
|
Central apnea |
OMIM:619606 |
2-Methylbutyryl-Coa Dehydrogenase Deficiency |
|
Apneic episodes in infancy |
OMIM:610006 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Congenital Disorder Of Glycosylation, Type Ij |
|
Apnea, Respiratory insufficiency, Aggressive behavior |
OMIM:608093 |
Cardiomyopathy, Dilated, 2H |
|
Neonatal death, Tachypnea, Cardiorespiratory arrest |
OMIM:620203 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Pulmonary arterial hypertension, Abnormal posturing, Tachypnea |
OMIM:614857 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Dyspnea, Apnea, Hyperventilation |
OMIM:229700 |
Rett Syndrome |
|
Apnea, Bruxism, Stereotypical hand wringing, Intermittent hyperventilation |
OMIM:312750 |
Huntington Disease-Like 1 |
|
Restlessness, Abnormal posturing |
ORPHA:157941 |
D-2-Hydroxyglutaric Aciduria 1 |
|
Apnea, Inspiratory stridor |
OMIM:600721 |
Pseudo-Torch Syndrome 3 |
|
Death in infancy, Apnea, Respiratory insufficiency |
OMIM:618886 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Central apnea, Dysphagia, Compulsive behaviors, Aggressive behavior |
OMIM:615157 |
Fatal Familial Insomnia |
|
Apnea, Dysphagia |
OMIM:600072 |
Gaucher Disease, Type Ii |
|
Death in infancy, Apnea, Dysphagia, Stridor, Cough, Recurrent aspiration pneumonia |
OMIM:230900 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Optic atrophy, Cerebellar atrophy, Neurodegeneration |
OMIM:614298 |
Hypoadrenocorticism, Familial |
|
Apnea |
OMIM:240200 |
Developmental And Epileptic Encephalopathy 90 |
|
Apneic episodes in infancy |
OMIM:301058 |
Joubert Syndrome 3 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608629 |
Infantile Neuroaxonal Dystrophy |
|
Hyperactivity, Impulsivity, Apneic episodes in infancy, Aspiration pneumonia, Choking episodes |
ORPHA:35069 |
Developmental And Epileptic Encephalopathy 101 |
|
Apnea |
OMIM:619814 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Tongue thrusting, Apnea, Cardiorespiratory arrest |
OMIM:608643 |
Propionic Acidemia |
|
Tachypnea, Apnea |
OMIM:606054 |
Myotonia, Potassium-Aggravated |
|
Stridor, Apneic episodes in infancy |
OMIM:608390 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Apnea, Recurrent pneumonia, Aspiration pneumonia |
ORPHA:314655 |
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 |
Wieacker-Wolff Syndrome |
|
Neonatal respiratory distress, Apnea |
OMIM:314580 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Respiratory failure, Respiratory insufficiency due to muscle weakness, Spina bifid... |
OMIM:618291 |
Congenital Left Ventricular Aneurysm |
|
Apnea |
ORPHA:1055 |
Hyperglycinemia, Lactic Acidosis, And Seizures |
|
Apnea, Respiratory insufficiency |
OMIM:614462 |
Coach Syndrome 2 |
|
Apneic episodes in infancy |
OMIM:619111 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Apnea, Neonatal death, Dysphagia |
OMIM:608013 |
Auriculocondylar Syndrome 1 |
|
Apnea |
OMIM:602483 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Apnea |
OMIM:612949 |
3-Methylglutaconic Aciduria, Type Viii |
|
Death in infancy, Apnea, Hypopnea, Respiratory failure, Dysphagia, Neonatal death, Respiratory ar... |
OMIM:617248 |
Illum Syndrome |
|
Apnea |
OMIM:208155 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Fa... |
ORPHA:79139 |
Glass Syndrome |
|
Restlessness, Hyperactivity, Apnea, Aggressive behavior, Frequent temper tantrums |
OMIM:612313 |
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome |
|
Apnea |
ORPHA:1129 |
Mitochondrial Complex I Deficiency, Nuclear Type 2 |
|
Apneic episodes in infancy, Apnea, Hypercapnia, Respiratory insufficiency |
OMIM:618222 |
Joubert Syndrome |
|
Apnea, Episodic tachypnea, Abnormal pattern of respiration |
ORPHA:475 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Apnea, Respiratory insufficiency, Dysphagia |
OMIM:617527 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Abnormal posturing, Dysphagia, Titubation |
ORPHA:225147 |
Plaa-Associated Neurodevelopmental Disorder |
|
Impaired oropharyngeal swallow response, Exaggerated startle response, Apnea, Respiratory insuffi... |
ORPHA:521426 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Hypoventilation, Apnea, Central hypoventilation, Hypercapnia, Hypoxemia, Nocturnal hypoventilation |
OMIM:209880 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Death in infancy, Neonatal respiratory distress, Apnea, Respiratory insufficiency, Respiratory fa... |
OMIM:608836 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Anorexia, Oral-pharyngeal dysphagia, Aggressive behavior, Impulsivit... |
ORPHA:2131 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Abnormal posturing, Dysphagia |
OMIM:128100 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Respiratory failure, Neonatal death, Pulmonary arterial hype... |
OMIM:616482 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Kcnq2-Related Epileptic Encephalopathy |
|
Apnea |
ORPHA:439218 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
|
Hypoventilation, Apnea, Hypopnea, Restrictive ventilatory defect, Aspiration pneumonia, Dysphagia |
OMIM:619482 |
Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Apnea, Death in childhood |
OMIM:214110 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Apnea, Hypopnea, Death in ... |
OMIM:618426 |
Joubert Syndrome With Oculorenal Defect |
|
Tachypnea, Apnea |
ORPHA:2318 |
Biotinidase Deficiency |
|
Respiratory distress, Myelopathy, Apnea, Hyperventilation |
ORPHA:79241 |
Joubert Syndrome With Renal Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220497 |
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency |
|
Apnea |
OMIM:210200 |
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic |
|
Apnea |
OMIM:261680 |
Joubert Syndrome With Ocular Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:220493 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Central apnea, Respiratory failure requiring assisted ventilation, Neonatal respiratory distress,... |
ORPHA:79345 |
Orofaciodigital Syndrome Xvi |
|
Apnea |
OMIM:617563 |
Stuve-Wiedemann Syndrome 1 |
|
Death in infancy, Apnea, Respiratory insufficiency, Dysphagia, Pulmonary arterial hypertension |
OMIM:601559 |
Unilateral Polymicrogyria |
|
Abnormal posturing, Apnea, Epistaxis, Pseudobulbar paralysis |
ORPHA:268943 |
Tenorio Syndrome |
|
Recurrent pneumonia, Apnea |
OMIM:616260 |
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency |
|
Apnea |
ORPHA:79644 |
Joubert Syndrome 1 |
|
Central apnea, Hyperactivity, Episodic tachypnea, Aggressive behavior, Self-mutilation, Neonatal ... |
OMIM:213300 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Neuromuscular dysphagia, Sudden episodic apnea |
ORPHA:466722 |
3-Hydroxy-3-Methylglutaric Aciduria |
|
Tachypnea, Apnea, Anorexia |
ORPHA:20 |
Severe X-Linked Intellectual Disability, Gustavson Type |
|
Apneic episodes in infancy |
ORPHA:3078 |
Pontocerebellar Hypoplasia, Type 7 |
|
Apnea |
OMIM:614969 |
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency |
|
Atrophy of the spinal cord, Apnea |
ORPHA:395 |
Mogs-Cdg |
|
Respiratory distress, Hypoventilation, Apnea |
ORPHA:79330 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Dyspnea, Episodic respiratory distress, Dysphagia, Hyperventilation |
ORPHA:255210 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:98793 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Apnea, Bruxism, Aggressive behavior, Hyperventilation |
OMIM:617799 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:177904 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Stridor, Aspiration, Neonatal respiratory distress, Apnea |
OMIM:614653 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Obsessiv... |
ORPHA:177901 |
Marshall-Smith Syndrome |
|
Apnea, Stridor, Death in childhood, Aspiration pneumonia, Cervical cord compression, Pulmonary ar... |
OMIM:602535 |
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy |
|
Tachypnea, Apnea, Recurrent aspiration pneumonia, Chronic lung disease |
ORPHA:397715 |
Joubert Syndrome 21 |
|
Apnea, Dyspnea, Respiratory failure, Dysphagia, Chronic sinusitis |
OMIM:615636 |
Necrotizing Enterocolitis |
|
Apnea |
ORPHA:391673 |
Biotinidase Deficiency |
|
Tachypnea, Apnea |
OMIM:253260 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Central apnea, Bulimia, Self-injurious behavior, Abnormal temper tantrums, Skin-picking, Polyphagia |
ORPHA:98754 |
Joubert Syndrome With Hepatic Defect |
|
Apnea, Abnormal pattern of respiration |
ORPHA:1454 |
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome |
|
Central apnea, Repetitive compulsive behavior, Self-biting, Abnormal repetitive mannerisms, Self-... |
ORPHA:522077 |
Hermansky-Pudlak Syndrome 10 |
|
Apnea |
OMIM:617050 |
Mucopolysaccharidosis Type 1 |
|
Sinusitis, Apnea, Cough |
ORPHA:579 |
Schwartz-Jampel Syndrome |
|
Death in infancy, Apnea, Respiratory insufficiency, Attention deficit hyperactivity disorder, Pul... |
ORPHA:800 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Apnea, Aggressive behavior |
ORPHA:17 |
Orofaciodigital Syndrome Type 6 |
|
Apnea, Episodic tachypnea |
ORPHA:2754 |
Genitopatellar Syndrome |
|
Apnea |
ORPHA:85201 |
Carnitine-Acylcarnitine Translocase Deficiency |
|
Sudden episodic apnea, Respiratory insufficiency |
ORPHA:159 |
Sandifer Syndrome |
|
Abnormal posturing |
ORPHA:71272 |
Bilateral Perisylvian Polymicrogyria |
|
Aspiration, Pseudobulbar paralysis, Apnea, Dysphagia |
ORPHA:98889 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency |
OMIM:252010 |
Joubert Syndrome 2 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation |
OMIM:608091 |
Campomelic Dysplasia |
|
Respiratory distress, Neonatal respiratory distress, Apnea, Spina bifida, Spinal dysraphism, Stri... |
OMIM:114290 |
Joubert Syndrome 5 |
|
Central apnea, Episodic tachypnea, Neonatal breathing dysregulation, Aggressive behavior |
OMIM:610188 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Apnea, Respiratory insufficiency |
OMIM:617239 |
Osteopathia Striata With Cranial Sclerosis |
|
Tracheomalacia, Spina bifida occulta, Apnea |
OMIM:300373 |
Pancreatic And Cerebellar Agenesis |
|
Death in infancy, Apnea |
OMIM:609069 |
Ogden Syndrome |
|
Apnea, Pulmonary arterial hypertension, Restrictive ventilatory defect, Dysphagia, Aspiration, Ab... |
OMIM:300855 |
Shprintzen-Goldberg Syndrome |
|
Apnea |
ORPHA:2462 |
Xp21 Deletion Syndrome |
|
Apneic episodes in infancy |
ORPHA:261476 |
Chronic Bilirubin Encephalopathy |
|
Central apnea |
ORPHA:529808 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Pleural effusion, Apnea |
OMIM:261740 |
Acute Bilirubin Encephalopathy |
|
Central apnea |
ORPHA:529799 |
Wolfram Syndrome |
|
Central apnea, Polydipsia, Respiratory insufficiency |
ORPHA:3463 |
Vici Syndrome |
|
Abnormal posturing, Dysphagia |
OMIM:242840 |
Tarp Syndrome |
|
Apnea |
ORPHA:2886 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome |
|
Hypoventilation, Exaggerated startle response, Apnea, Breathing dysregulation, Aspiration pneumon... |
ORPHA:438213 |
Mosaic Variegated Aneuploidy Syndrome |
|
Apnea |
ORPHA:1052 |
Bohring-Opitz Syndrome |
|
Apnea |
ORPHA:97297 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Neonatal respiratory distress, Apnea, Impulsivity, Asthma, Dysphagia, Stereotypical body rocking,... |
OMIM:619503 |
Semilobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:220386 |
Alobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:93926 |
Lobar Holoprosencephaly |
|
Central apnea, Aspiration pneumonia, Dysphagia, Attention deficit hyperactivity disorder, Abnorma... |
ORPHA:93924 |
Autosomal Recessive Malignant Osteopetrosis |
|
Pulmonary arterial hypertension, Apnea, Chronic rhinitis |
ORPHA:667 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Asthma, Apnea |
ORPHA:3206 |
Orofaciodigital Syndrome Type 2 |
|
Tachypnea, Apnea |
ORPHA:2751 |
Diethylstilbestrol Syndrome |
|
Central apnea |
ORPHA:1916 |
Slc39A8-Cdg |
|
Sudden episodic apnea |
ORPHA:468699 |
Hypermobile Ehlers-Danlos Syndrome |
|
Apnea |
ORPHA:285 |
Congenital Total Pulmonary Venous Return Anomaly |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |
Molybdenum Cofactor Deficiency, Complementation Group C |
|
Neonatal death |
OMIM:615501 |
Pallister-Killian Syndrome |
|
Stillbirth, Apneic episodes in infancy, Tethered cord, Hyperventilation |
OMIM:601803 |
Hereditary Hyperekplexia |
|
|
ORPHA:3197 |