Auditory Neuropathy, Autosomal Dominant 1 |
|
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... |
OMIM:609129 |
Deafness, Autosomal Recessive 9 |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Absence of acoustic reflex |
OMIM:601071 |
Joubert Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia |
OMIM:614173 |
Ravine Syndrome |
|
Abnormal brainstem morphology, Abnormal auditory evoked potentials, Atrophy/Degeneration affectin... |
ORPHA:99852 |
Deafness, Autosomal Recessive 104 |
|
Abnormal vestibular function, Prelingual sensorineural hearing impairment, Absent brainstem audit... |
OMIM:616515 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Facial palsy, Abnormal motor nerve conduction velocity, Camptodactyly of fi... |
OMIM:614399 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Tremor, Dyspnea, Abnormality of the seventh c... |
ORPHA:90117 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... |
OMIM:605285 |
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy |
|
Respiratory distress, Peripheral axonal neuropathy, Ataxia, Kyphoscoliosis, Tremor, Distal amyotr... |
OMIM:619099 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, ... |
OMIM:616287 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Peripheral axonal dege... |
OMIM:607706 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morph... |
ORPHA:1145 |
Stuve-Wiedemann Syndrome 2 |
|
Respiratory distress, Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth... |
OMIM:619751 |
Myopathy And Diabetes Mellitus |
|
Distal lower limb amyotrophy, Respiratory distress, Peripheral axonal neuropathy, Achilles tendon... |
ORPHA:2596 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Respiratory distress, Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency, ... |
ORPHA:238329 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Respiratory distress, Vocal cord paralysis, Tongue ... |
OMIM:211530 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia... |
OMIM:616286 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Gómez-López-Hernández Syndrome |
|
Abnormal cerebellum morphology, Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Low-... |
ORPHA:1532 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency, Scoli... |
ORPHA:640 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Limited interphalangeal movement, Frequent falls, Hand muscle wea... |
ORPHA:99948 |
Neurogenic Arthrogryposis Multiplex Congenita |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle... |
ORPHA:1143 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Hand muscle weakness, Quadriceps muscle ... |
ORPHA:101097 |
Charcot-Marie-Tooth Disease, Type 4B1 |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials |
OMIM:601382 |
Hydrocephalus, Congenital, 5, Susceptibility To |
|
Aqueductal stenosis, Noncommunicating hydrocephalus |
OMIM:620241 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Lennox-Gastaut Syndrome |
|
EEG abnormality, Abnormal brainstem morphology, EEG with focal sharp slow waves |
ORPHA:2382 |
20Q11.2 Microdeletion Syndrome |
|
Abnormality of the ear, Brainstem dysplasia, Hearing impairment |
ORPHA:444051 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2 |
|
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... |
ORPHA:99947 |
Perching Syndrome |
|
Respiratory distress, Joint contracture, Scoliosis, Camptodactyly |
OMIM:617055 |
Congenital Disorder Of Glycosylation, Type Iu |
|
Respiratory distress, Thin upper lip vermilion, Death in infancy, Neonatal respiratory distress, ... |
OMIM:615042 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Axonal degeneration,... |
OMIM:620011 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Respiratory distress, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle ... |
ORPHA:86812 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Joubert Syndrome 36 |
|
Molar tooth sign on MRI, Sensorineural hearing impairment |
OMIM:618763 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Paralysis, Lower-limb joint contracture |
OMIM:613710 |
Diaphanospondylodysostosis |
|
Respiratory distress, Missing ribs, Short neck, Short thorax, Narrow pelvis bone, Enlarged thorax... |
ORPHA:66637 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Respiratory distress, Facial palsy, Respiratory insufficiency due to muscle weakness, Myopathy, T... |
OMIM:300580 |
Isolated Congenital Hypoglossia/Aglossia |
|
Respiratory distress, Dyspnea, Upper airway obstruction, Aplasia/Hypoplasia of fingers, Aspiratio... |
ORPHA:141152 |
Odontochondrodysplasia 1 |
|
Respiratory distress, Metaphyseal widening, Pectus carinatum, Narrow chest, Short phalanx of fing... |
OMIM:184260 |
Moebius Syndrome |
|
Respiratory distress, Syndactyly, Brachydactyly, Short neck, Split hand, Poor coordination, Clums... |
OMIM:157900 |
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures |
|
Respiratory distress, Kyphoscoliosis, Spastic paraplegia, Spastic tetraplegia, Spasticity, Joint ... |
OMIM:617977 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Short metacarpal, Bifid sternum, Inguinal hernia, Tapere... |
OMIM:303600 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... |
ORPHA:71277 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:614895 |
Pontocerebellar Hypoplasia Type 10 |
|
Optic atrophy, Abnormal brainstem morphology |
ORPHA:411493 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Respiratory distress, Short neck, Narrow chest, Radial bowing, Dumbbell-shaped long bone, Flat ac... |
OMIM:151210 |
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome |
|
Holoprosencephaly |
ORPHA:2523 |
Optic Atrophy 8 |
|
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... |
OMIM:616648 |
Craniorachischisis |
|
Omphalocele, Bifid sternum, Congenital diaphragmatic hernia |
ORPHA:63260 |
Odontochondrodysplasia |
|
Respiratory distress, Death in infancy, Bowing of the long bones, Coxa valga, Cone-shaped epiphys... |
ORPHA:166272 |
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome |
|
Abnormal sacrum morphology, Fused cervical vertebrae, Short middle phalanx of finger, Scoliosis, ... |
ORPHA:1436 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Spinal muscular atrophy, Respiratory insufficiency... |
ORPHA:254875 |
Spinocerebellar Ataxia 38 |
|
Cerebellar vermis atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:615957 |
Epilepsy, Progressive Myoclonic, 8 |
|
Cerebellar atrophy, EEG with photoparoxysmal response, Atrophy/Degeneration affecting the brainstem |
OMIM:616230 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Short neck, Dyspnea, Respiratory failure, Median cleft lip and palate |
ORPHA:1832 |
Pontocerebellar Hypoplasia, Type 3 |
|
Cerebellar atrophy, Optic disc pallor, Hypoplasia of the pons, Optic atrophy, Hypoplasia of the b... |
OMIM:608027 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Hypoplasia of the pons, Optic disc pallor, Cerebellar vermis hypoplasia, Abnormal auditory evoked... |
OMIM:617523 |
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome |
|
Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ... |
ORPHA:370022 |
Klippel-Feil Syndrome 3, Autosomal Dominant |
|
Thoracic scoliosis, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion |
OMIM:613702 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Kniest Dysplasia |
|
Respiratory distress, Hip contracture, Inguinal hernia, Dumbbell-shaped long bone, Short neck, Pe... |
OMIM:156550 |
Muscular Hypertonia, Lethal |
|
Respiratory distress, Death in infancy, Hypertonia, Pneumonia |
OMIM:254120 |
Joubert Syndrome 10 |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears |
OMIM:300804 |
Joubert Syndrome 25 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:616781 |
Infantile Spasms-Psychomotor Retardation-Progressive Brain Atrophy-Basal Ganglia Disease Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:263410 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Arachnodactyly, Missing ribs, Dyspnea, Hemivertebrae, Abnormal rib morpholo... |
ORPHA:2759 |
Short Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Myopathy, Hypertonia, Optic atrophy |
ORPHA:26792 |
Congenital Disorder Of Glycosylation, Type Iii |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hearing impairment |
OMIM:613612 |
Mental retardation, x-linked, syndromic, Turner type |
|
Holoprosencephaly |
OMIM:300706 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ty... |
OMIM:605809 |
Episodic Ataxia Type 1 |
|
Cerebellar atrophy, Respiratory distress, Kyphoscoliosis, Poor coordination, Clumsiness, Choreoat... |
ORPHA:37612 |
Congenital Disorder Of Glycosylation, Type Iy |
|
Respiratory distress, Clinodactyly, Scoliosis |
OMIM:300934 |
Joubert Syndrome 40 |
|
Molar tooth sign on MRI, Optic nerve hypoplasia |
OMIM:619582 |
Congenital Disorder Of Glycosylation, Type Ie |
|
Short palm, Respiratory distress, Ataxia, Ankle flexion contracture, Tremor, Optic atrophy, Upper... |
OMIM:608799 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Achondroplasia |
|
Respiratory distress, Bowing of the legs, Femoral bowing, Brain stem compression, Narrow greater ... |
OMIM:100800 |
Microcephaly-Polymicrogyria-Corpus Callosum Agenesis Syndrome |
|
Respiratory distress, Cerebellar hypoplasia |
ORPHA:171703 |
Autosomal Recessive Spastic Paraplegia Type 44 |
|
Abnormal motor evoked potentials, Sensorineural hearing impairment, Abnormal auditory evoked pote... |
ORPHA:320401 |
Leukodystrophy, Hypomyelinating, 18 |
|
Decreased nerve conduction velocity, Cerebellar atrophy, Abnormal motor nerve conduction velocity... |
OMIM:618404 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Respiratory distress, Sudden episodic apnea, Respiratory insufficiency due to muscle weakness, Ap... |
OMIM:254210 |
Progressive Supranuclear Palsy-Corticobasal Syndrome |
|
Respiratory distress, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal s... |
ORPHA:240103 |
Myasthenic Syndrome, Congenital, 16 |
|
Apnea, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Hypoplastic ilia, Wide-cupped costochondral junctions, Flared m... |
OMIM:187601 |
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities |
|
Respiratory distress, Tented upper lip vermilion, Overlapping toe, Cerebellar vermis hypoplasia, ... |
OMIM:619383 |
Lethal Recessive Chondrodysplasia |
|
Respiratory distress, Macroglossia, Short long bone, Narrow chest, Flared elbow metaphyses |
ORPHA:1423 |
Multiple Mitochondrial Dysfunctions Syndrome 6 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Optic atrophy, Hearing impairment |
OMIM:617954 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Loss of Purkinje cells in the cerebellar vermis, Optic atrophy, Abnormal brai... |
ORPHA:98755 |
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy |
|
Cerebellar atrophy, Respiratory distress, Inguinal hernia, Tapered finger, Flexion contracture, H... |
ORPHA:544503 |
X-Linked Cerebral-Cerebellar-Coloboma Syndrome |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Agenesis of cerebellar vermis, Abnormal b... |
ORPHA:163961 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... |
ORPHA:98863 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 1 |
|
Vertigo, Optic atrophy, Abnormal brainstem morphology, Aplasia/Hypoplasia of the cerebellum, Hear... |
ORPHA:79279 |
Hypomyelination Neuropathy-Arthrogryposis Syndrome |
|
Respiratory distress |
ORPHA:2680 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Hand muscle weakness, Segmental peripheral demyelinati... |
OMIM:162500 |
Folinic Acid-Responsive Seizures |
|
Cerebellar atrophy, Respiratory distress, Apnea, Ataxia, Spastic tetraparesis, Chorea, Optic atro... |
ORPHA:79097 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem |
OMIM:619862 |
Emphysema, Congenital Lobar |
|
Respiratory distress |
OMIM:130710 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Congenital Myopathy 22B, Severe Fetal |
|
Respiratory distress, Thoracic scoliosis, Tented upper lip vermilion, Short neck, Flexion contrac... |
OMIM:620369 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... |
ORPHA:98853 |
Pyruvate Dehydrogenase E3-Binding Protein Deficiency |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:255182 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Ragged-red muscle fiber... |
ORPHA:254864 |
Synaptic Congenital Myasthenic Syndromes |
|
Respiratory distress, Skeletal muscle atrophy, Scapular winging, Hypoventilation, Neonatal respir... |
ORPHA:98915 |
Orofaciodigital Syndrome Xv |
|
Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Low-set ears |
OMIM:617127 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Congenital hip dislocation, Arachnodactyly, Rocker b... |
OMIM:271225 |
Diaphanospondylodysostosis |
|
Delayed vertebral ossification, Respiratory distress, Absent in utero ossification of vertebral b... |
OMIM:608022 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ne... |
OMIM:183900 |
Progressive Supranuclear Palsy-Parkinsonism Syndrome |
|
Respiratory distress, Rigidity, Tremor, Bradykinesia, Parkinsonism with favorable response to dop... |
ORPHA:240085 |
Osteogenesis Imperfecta, Type X |
|
Respiratory distress, Multiple rib fractures, Thoracic scoliosis, Short femur, Bowing of the long... |
OMIM:613848 |
Developmental And Epileptic Encephalopathy 30 |
|
Respiratory distress, Death in infancy |
OMIM:616341 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Sensorineural hearing impairment, Facial palsy, EEG abnormality |
OMIM:617519 |
Gaucher Disease Type 2 |
|
Respiratory distress, Flexion contracture, Cough, Spasticity, Abnormal pattern of respiration |
ORPHA:77260 |
Bardet-Biedl Syndrome 16 |
|
Respiratory distress, Polydactyly |
OMIM:615993 |
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Sensorineural hearing impairment, ... |
OMIM:616192 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Kyphos... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Congenital hip dislocation, Sudden episodic apnea, Ataxia, Kyphos... |
ORPHA:98914 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Omphalocele, Syndactyly, Respiratory distress, Thoracic hypoplasia, Postaxial polydactyly, Hypopl... |
OMIM:617895 |
Short-Rib Thoracic Dysplasia 16 With Or Without Polydactyly |
|
Respiratory distress, Short metacarpal, Brachydactyly, Sandal gap, Postaxial polydactyly, Short t... |
OMIM:617102 |
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy |
|
Cerebellar vermis hypoplasia, EEG with focal spike waves, Abnormal brainstem morphology, Abnormal... |
ORPHA:370997 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Congenital Muscular Dystrophy With Cerebellar Involvement |
|
Dilated fourth ventricle, Fusion of the cerebellar hemispheres, Optic nerve hypoplasia, Olivopont... |
ORPHA:370959 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Progressive sensorineural hearing impairment, Optic atrophy, Abnormal auditory evoked potentials |
OMIM:125250 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... |
OMIM:619574 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Joubert Syndrome 4 |
|
Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th... |
OMIM:609583 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Death in infancy, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficien... |
OMIM:614299 |
Dysosteosclerosis |
|
Clavicular sclerosis, Sclerotic scapulae, Increased intervertebral space, Optic atrophy, Abnormal... |
OMIM:224300 |
Deafness, Autosomal Dominant 9 |
|
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... |
OMIM:601369 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Mucopolysaccharidosis-Plus Syndrome |
|
Respiratory distress, Short neck, Pectus excavatum, Metaphyseal widening, Flexion contracture, Op... |
OMIM:617303 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Respiratory distress, Tremor,... |
ORPHA:79139 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Cranial nerve compression, Babinski sign, Voca... |
ORPHA:268882 |
Microtia-Anotia |
|
Holoprosencephaly |
OMIM:600674 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Respiratory distress, Multiple joint contractures, Metaphyseal widening, Pectus carinatum, Arachn... |
ORPHA:536467 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Respiratory distress, Neonatal respiratory distress, Ovoid vertebral bodies,... |
OMIM:260400 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Polymicrogyria Due To Tubb2B Mutation |
|
Hypoplasia of the pons, Cerebellar atrophy, Abnormal brainstem morphology |
ORPHA:300573 |
Pleural Mesothelioma |
|
Respiratory distress, Dyspnea, Abnormal thorax morphology, Abnormal respiratory system physiology... |
ORPHA:50251 |
Spinocerebellar Ataxia, Autosomal Recessive 3 |
|
Cochlear degeneration, Hearing impairment |
OMIM:271250 |
Meckel Syndrome 13 |
|
Molar tooth sign on MRI, Cerebellar hypoplasia |
OMIM:617562 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality ... |
OMIM:620278 |
Charcot-Marie-Tooth Disease Type 4C |
|
Neuropathic spinal arthropathy, Decreased motor nerve conduction velocity, Decreased number of pe... |
ORPHA:99949 |
Developmental And Epileptic Encephalopathy 5 |
|
Cerebellar atrophy, Atrophy/Degeneration affecting the brainstem, Hypsarrhythmia |
OMIM:613477 |
X-Linked Centronuclear Myopathy |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Weakness of ... |
ORPHA:596 |
Juvenile-Onset Diabetes Mellitus-Central And Peripheral Neurodegeneration Syndrome |
|
Cerebellar atrophy, Bilateral sensorineural hearing impairment, Atrophy/Degeneration affecting th... |
ORPHA:445062 |
Machado-Joseph Disease Type 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Peripheral axonal neuropathy, Di... |
ORPHA:276244 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Neonatal respiratory distress, Small abnormally formed scapulae, Thorac... |
OMIM:187600 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Parkinsonism, Paralysis |
OMIM:105500 |
Cardiomyopathy, Dilated, 1Gg |
|
Respiratory distress, Left ventricular noncompaction |
OMIM:613642 |
Joubert Syndrome 28 |
|
Molar tooth sign on MRI, Optic disc pallor |
OMIM:617121 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Respiratory distress, Ragged-red muscle fibers, Respiratory insufficiency due to muscle weakness,... |
OMIM:613561 |
Meier-Gorlin Syndrome 1 |
|
Respiratory distress, Lateral clavicle hook, Flexion contracture, Hemivertebrae, Flat glenoid fos... |
OMIM:224690 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Death in infancy, Respiratory i... |
OMIM:615512 |
Adult Krabbe Disease |
|
Prolonged brainstem auditory evoked potentials, Abnormal medulla oblongata morphology, Abnormal m... |
ORPHA:206448 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Congenital Disorder Of Glycosylation, Type Ix |
|
Cerebellar atrophy, Optic atrophy, Respiratory distress, Death in childhood |
OMIM:615597 |
Lissencephaly 9 With Complex Brainstem Malformation |
|
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hem... |
OMIM:618325 |
Tubulinopathy-Associated Dysgyria |
|
Hypoplasia of the pons, Cerebellar vermis hypoplasia, Abnormal brainstem morphology |
ORPHA:467166 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Axonal loss, Paralysis |
OMIM:300857 |
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy |
|
Respiratory distress, Thin upper lip vermilion, Optic atrophy, Contractures of the large joints, ... |
ORPHA:329178 |
Myotubular Myopathy With Abnormal Genital Development |
|
Respiratory distress, Death in infancy, Centrally nucleated skeletal muscle fibers, Thin ribs, My... |
OMIM:300219 |
Joubert Syndrome 30 |
|
Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma... |
OMIM:617622 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... |
ORPHA:99956 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... |
OMIM:601152 |
Hypokalemic Periodic Paralysis |
|
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... |
ORPHA:681 |
Abcd Syndrome |
|
Hearing impairment, Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal ... |
OMIM:600501 |
Microlissencephaly-Micromelia Syndrome |
|
11 pairs of ribs, Respiratory distress, Short neck, Hypertonia, Cerebellar hypoplasia, Adducted t... |
ORPHA:50810 |
Combined Oxidative Phosphorylation Deficiency 30 |
|
Left ventricular hypertrophy, Death in infancy, Respiratory distress |
OMIM:616974 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Reduced forced vital capacity, Vocal cord paralysis, Increa... |
OMIM:620161 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Facial... |
OMIM:601596 |
Tick-Borne Encephalitis |
|
Back pain, Skeletal muscle atrophy, Speech apraxia, Abnormal medulla oblongata morphology, Incoor... |
ORPHA:297 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Septopreoptic Holoprosencephaly |
|
Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology |
ORPHA:280195 |
Mohr-Tranebjaerg Syndrome |
|
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... |
ORPHA:52368 |
Mitochondrial Complex I Deficiency, Nuclear Type 37 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Inguinal hernia, Respiratory distress, Tetraplegia, ... |
OMIM:619272 |
Primary Dystonia, Dyt4 Type |
|
Respiratory distress, Torticollis, Involuntary movements, Kyphoscoliosis, Upper limb postural tre... |
ORPHA:98805 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0 |
|
Respiratory distress, Hemiplegia/hemiparesis, Chorea, Optic atrophy, Choreoathetosis |
ORPHA:289916 |
Radio-Renal Syndrome |
|
Respiratory distress, Short neck, Dyspnea, Hypoplasia of the radius, Abnormal rib morphology, Abn... |
ORPHA:3015 |
Chitayat Syndrome |
|
Hallux valgus, Respiratory distress, Pectus excavatum, Thick vermilion border, Tracheomalacia, Br... |
OMIM:617180 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Central apnea, Lumbar hyperlordosis, Kyphosis, Tibial bowing, Femoral bowin... |
OMIM:616482 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Abnormal skeletal ... |
ORPHA:142 |
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome |
|
Respiratory distress, Myopathy |
ORPHA:91130 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Hypoplasia of the pons, Optic atrophy, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclon... |
ORPHA:500144 |
Mitochondrial Pyruvate Carrier Deficiency |
|
Respiratory distress, Thin upper lip vermilion |
OMIM:614741 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Rhabdomyolysis, Respiratory failure, Pseudobulbar paralysis, Respiratory pa... |
ORPHA:449285 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Paralysis, Dyspnea, Abnormal respiratory system physiology, Respiratory ... |
ORPHA:803 |
Coenzyme Q10 Deficiency, Primary, 8 |
|
Left ventricular hypertrophy, Flexion contracture, Peripheral demyelination, Respiratory distress |
OMIM:616733 |
Campomelic Dysplasia |
|
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Anterior tibial bowing, Delay... |
OMIM:114290 |
Tetanus |
|
Respiratory distress, Tremor, Rigidity, Tachypnea, Opisthotonus, Hypertonia, Abnormal autonomic n... |
ORPHA:3299 |
Autosomal Dominant Spastic Paraplegia Type 36 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:320365 |
Machado-Joseph Disease Type 1 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Cerebellar atrophy, Substantia nigra glios... |
ORPHA:276241 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyperkalemic paraly... |
ORPHA:682 |
Isolated Atp Synthase Deficiency |
|
Cerebellar atrophy, Respiratory distress, Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia |
ORPHA:254913 |
Charcot-Marie-Tooth Disease, Type 4D |
|
Decreased nerve conduction velocity, Sensorineural hearing impairment, Abnormal auditory evoked p... |
OMIM:601455 |
Congenital Diaphragmatic Hernia |
|
Respiratory distress, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hypox... |
ORPHA:2140 |
Recurrent Respiratory Papillomatosis |
|
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... |
ORPHA:60032 |
Cleidocranial Dysplasia 1 |
|
Respiratory distress, Short middle phalanx of the 2nd finger, Coxa vara, Narrow chest, Hypoplasti... |
OMIM:119600 |
Stt3B-Cdg |
|
Cerebellar atrophy, Optic atrophy, Respiratory distress |
ORPHA:370924 |
Tetrasomy 5P |
|
Respiratory distress, Overlapping toe, Short hallux, Short neck, Pectus excavatum, Long fingers, ... |
ORPHA:3309 |
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development |
|
Hypoplasia of the pons, Midline brainstem cleft |
OMIM:617542 |
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis |
|
Cerebellar atrophy, Optic disc pallor, Sensorineural hearing impairment, Abnormal auditory evoked... |
OMIM:619260 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Respiratory distress, Thin upper lip vermilion, Short humerus, Short femur, Sandal gap, Hypoplasi... |
OMIM:607143 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Thin upper lip vermilion, Scapular winging, Short metacarpal, Toe syndactyly, Periodic paralysis,... |
OMIM:170390 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Cerebellar atrophy, Respiratory distress, Death in infancy, Myopathy, Increased variability in mu... |
OMIM:604377 |
Joubert Syndrome 16 |
|
Molar tooth sign on MRI, Dandy-Walker malformation |
OMIM:614465 |
Cryptogenic Organizing Pneumonia |
|
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... |
ORPHA:1302 |
Laryngotracheal Angioma |
|
Respiratory distress, Intercostal retractions, Apnea, Wheezing, Stridor, Cough |
ORPHA:137935 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Tr... |
OMIM:220110 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Death in infancy, Neonatal respiratory distress, Nonspecific interstitial p... |
OMIM:610921 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Lissencephaly Syndrome, Norman-Roberts Type |
|
Cerebellar atrophy, Rocker bottom foot, Respiratory distress, Adducted thumb |
ORPHA:89844 |
Craniofaciofrontodigital Syndrome |
|
Respiratory distress, Dyspnea, Pectus carinatum, Hemiparesis, Macroglossia, Thick vermilion borde... |
ORPHA:363705 |
Poliomyelitis |
|
Skeletal muscle atrophy, Respiratory failure requiring assisted ventilation, Abnormal motor nerve... |
ORPHA:2912 |
Severe Acute Respiratory Syndrome |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Dyspnea, Hypoxemia, Acu... |
ORPHA:140896 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Arachnodactyly, Dyspnea, Optic atrophy, Respiratory failure, Thin vermilion... |
ORPHA:2707 |
Joubert Syndrome 7 |
|
Molar tooth sign on MRI, Hypoplasia of the brainstem, Brainstem dysplasia |
OMIM:611560 |
Avian Influenza |
|
Respiratory distress, Miscarriage, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Rha... |
ORPHA:454836 |
Succinic Acidemia |
|
Respiratory distress |
OMIM:600335 |
Autosomal Dominant Optic Atrophy Plus Syndrome |
|
Temporal optic disc pallor, Absent brainstem auditory responses, Sensorineural hearing impairment... |
ORPHA:1215 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Respiratory distress, Bronchiectasis, Abnormal mucociliary clearance |
OMIM:619466 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Decr... |
ORPHA:206436 |
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut- |
|
Respiratory distress, Optic atrophy, Choreoathetosis |
ORPHA:79312 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... |
ORPHA:230800 |
Congenital Hypothyroidism Due To Maternal Intake Of Antithyroid Drugs |
|
Respiratory distress, Delayed epiphyseal ossification, Macroglossia, Abnormal epiphysis morpholog... |
ORPHA:226313 |
Oculopharyngodistal Myopathy 1 |
|
Respiratory distress, Autophagic vacuoles, Facial palsy, Hypercapnia, Ataxia, Reduced forced vita... |
OMIM:164310 |
47,Xyy Syndrome |
|
Dysgenesis of the cerebellar vermis, Abnormal brainstem morphology, Low-set ears, Cerebellar dysp... |
ORPHA:8 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Respiratory distress, Hypoventilation, Speech apraxia, Tented upper lip vermilion, Apnea, Recurre... |
ORPHA:314655 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Respiratory distress, Syndactyly, Neonatal respiratory distress, Proximal placement of thumb, Sho... |
OMIM:217980 |
Developmental And Epileptic Encephalopathy 68 |
|
Respiratory distress, Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spast... |
OMIM:618201 |
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy) |
|
Respiratory distress, Gait ataxia |
OMIM:612075 |
Hereditary Pulmonary Alveolar Proteinosis |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Crackles, Tachypnea, Ac... |
ORPHA:264675 |
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders |
|
Barrel-shaped chest, Respiratory distress, Lumbar hyperlordosis, Short neck, Flexion contracture,... |
ORPHA:505248 |
Osteoglophonic Dysplasia |
|
Respiratory distress, Short metacarpal, Hypoplastic scapulae, Bowing of the long bones, Camptodac... |
OMIM:166250 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
|
Respiratory distress, Neonatal respiratory distress, Ataxia, Crackles, Asthma, Tachypnea, Wheezin... |
OMIM:610978 |
Orofaciodigital Syndrome Type 3 |
|
Cerebellar vermis hypoplasia, Pectus excavatum, Postaxial hand polydactyly, Postaxial foot polyda... |
ORPHA:2752 |
Joubert Syndrome 6 |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Molar tooth ... |
OMIM:610688 |
Malaria |
|
Respiratory distress |
ORPHA:673 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Nipah Virus Disease |
|
Respiratory distress, Myoclonus, Tremor, Cough |
ORPHA:99825 |
Auriculocondylar Syndrome 2A |
|
Respiratory distress, Apnea |
OMIM:614669 |
Pulmonary Non-Tuberculous Mycobacterial Infection |
|
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... |
ORPHA:411703 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Respiratory failure, Frequ... |
OMIM:620166 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Respiratory distress, Fused cervical vertebrae, Broad ribs, Flaring of rib cage |
OMIM:612852 |
Neuromuscular Oculoauditory Syndrome |
|
Respiratory distress, Decreased nerve conduction velocity, Knee flexion contracture, Wrist flexio... |
OMIM:618733 |
Myhre Syndrome |
|
Short neck, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Short toe, Generalized ... |
OMIM:139210 |
Mogs-Cdg |
|
Respiratory distress, Absent brainstem auditory responses, Thoracic scoliosis, Hypoventilation, A... |
ORPHA:79330 |
Adult-Onset Autosomal Dominant Leukodystrophy |
|
Abnormal cerebellar peduncle morphology, Orthostatic hypotension, EEG with generalized slow activ... |
ORPHA:99027 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Marshall-Smith Syndrome |
|
Thoracic scoliosis, Large sternal ossification centers, Apnea, Distal widening of metacarpals, Co... |
OMIM:602535 |
Laryngomalacia |
|
Respiratory distress, Congenital laryngeal stridor |
OMIM:150280 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Respiratory distress, Postaxial hand polydactyly, Abnormal rib morphology, Pulmonary arterial hyp... |
ORPHA:2519 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Arthrogryposis, Distal, Type 2A |
|
Cerebellar atrophy, Hypoplasia of the brainstem, Abnormal auditory evoked potentials, Hearing imp... |
OMIM:193700 |
Bent Bone Dysplasia Syndrome 2 |
|
Bowed humerus, Short neck, Short tibia, Ulnar bowing, Femoral bowing, Thin ribs, Coronal cleft ve... |
OMIM:620076 |
Oculocerebral Hypopigmentation Syndrome, Preus Type |
|
Aplasia/Hypoplasia of the cerebellum, Abnormal brainstem morphology, Hearing impairment |
ORPHA:2720 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Schwannoma, Vocal cord paralysis, Chiari type I malformation, Abnormal... |
ORPHA:221098 |
Respiratory Distress Syndrome In Premature Infants |
|
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea |
OMIM:267450 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Inguinal hernia, Arachnodactyly, Rocker bottom foot, Coxa valga, Avascular ... |
ORPHA:3342 |
Tarp Syndrome |
|
Cerebellar vermis hypoplasia, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypopl... |
OMIM:311900 |
Osteogenesis Imperfecta |
|
Cervical kyphosis, Abnormal tibia morphology, Flexion contracture, Abnormal femur morphology, Abn... |
ORPHA:666 |
Familial Acute Necrotizing Encephalopathy |
|
Abnormal brainstem MRI signal intensity, Abnormal brainstem morphology |
ORPHA:88619 |
Restrictive Dermopathy 2 |
|
Respiratory distress, Overtubulated long bones, Short clavicles |
OMIM:619793 |
Pfeiffer Syndrome Type 2 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93259 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Vestibular areflexia, Cerebellar hypoplasia |
ORPHA:3240 |
Familial Cerebral Saccular Aneurysm |
|
Abnormal brainstem morphology |
ORPHA:231160 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Periodic paralysis |
OMIM:613345 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... |
ORPHA:397744 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Respiratory distress, Thin vermilion border |
ORPHA:261304 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Abnormal morphology of musculature of pharynx, Decreased nerve conduction velocity, Respiratory i... |
ORPHA:600 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Abnormal clavicle morphology, Short neck, Vocal cord paralysis, Tibial bowi... |
ORPHA:798 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Respiratory distress, Sacral dimple, Postaxial polydactyly, Tapered finger, Small hand, Hip dislo... |
OMIM:300968 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
3-Methylglutaconic Aciduria, Type Viib |
|
Cerebellar atrophy, Respiratory distress, Ataxia, Tremor, Flexion contracture, Recurrent pneumoni... |
OMIM:616271 |
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
OMIM:109120 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Postaxial foot polydactyly, Short sternum... |
OMIM:258850 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Myotonic Dystrophy 1 |
|
Respiratory distress, Facial diplegia |
OMIM:160900 |
Scarf Syndrome |
|
Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Pectus carin... |
ORPHA:3134 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Periodic hyperkalemic paralysis, Periodic paralysis, Small hand, 2-3 to... |
ORPHA:37553 |
Farber Disease |
|
Respiratory distress, Skeletal muscle atrophy, Paraparesis, Short toe, Flexion contracture, Respi... |
ORPHA:333 |
Congenital Pulmonary Lymphangiectasia |
|
Respiratory distress, Chronic pulmonary obstruction, Cough, Pulmonary arterial hypertension, Pleu... |
ORPHA:2414 |
Chronic Pneumonitis Of Infancy |
|
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... |
ORPHA:91359 |
Gaucher Disease, Perinatal Lethal |
|
Respiratory distress, Everted upper lip vermilion, Apnea, Opisthotonus, Everted lower lip vermili... |
OMIM:608013 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Esophageal Atresia |
|
Omphalocele, Respiratory distress, Vocal cord paresis, Laryngotracheomalacia, Episodic respirator... |
ORPHA:1199 |
Hyperparathyroidism, Transient Neonatal |
|
Respiratory distress, Inguinal hernia, Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, ... |
OMIM:618188 |
Alternating Hemiplegia Of Childhood |
|
Respiratory distress, Apnea, Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiple... |
ORPHA:2131 |
Joubert Syndrome 2 |
|
Agenesis of cerebellar vermis, Brainstem dysplasia, Optic disc coloboma, Hypoplasia of the brains... |
OMIM:608091 |
Ethylmalonic Encephalopathy |
|
Abnormal brainstem MRI signal intensity |
ORPHA:51188 |
Congenital Disorder Of Deglycosylation 1 |
|
Respiratory distress, Facial hypotonia, Involuntary movements, Chorea, Small hand, Intrinsic hand... |
OMIM:615273 |
Stüve-Wiedemann Syndrome |
|
Respiratory distress, Sacral dimple, Bowing of the long bones, Apnea, Camptodactyly of finger, Me... |
ORPHA:3206 |
Prader-Willi Syndrome Due To Translocation |
|
Respiratory distress, Thin upper lip vermilion, Overlapping toe, Short neck, Small hand, Short fo... |
ORPHA:177907 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Pfeiffer Syndrome Type 3 |
|
Respiratory distress, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Short hallux, Hall... |
ORPHA:93260 |
Slc35A2-Cdg |
|
Cerebellar atrophy, Abnormal midbrain morphology, Sensorineural hearing impairment, EEG with foca... |
ORPHA:356961 |
Agnathia-Holoprosencephaly-Situs Inversus Syndrome |
|
Aplasia/Hypoplasia of the cerebellum, Respiratory distress, Abnormal cranial nerve morphology |
ORPHA:990 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Orthopnea, Facial hypotonia, Glycogen accumulation in muscle fiber lysosome... |
ORPHA:365 |
Meconium Aspiration Syndrome |
|
Respiratory distress, Neonatal asphyxia, Wheezing, Pneumothorax, Hypoxemia, Aspiration pneumonia,... |
ORPHA:70588 |
Tarp Syndrome |
|
Finger syndactyly, Apnea, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Optic atro... |
ORPHA:2886 |
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation |
|
Respiratory distress, Thin upper lip vermilion, Exaggerated startle response, Tented upper lip ve... |
ORPHA:438216 |
Alkuraya-Kucinskas Syndrome |
|
Posteriorly rotated ears, Hypoplasia of the brainstem, Kinked brainstem, Low-set ears, Cerebellar... |
OMIM:617822 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Everted lower lip vermilion, Short finger, Paralysis |
OMIM:242100 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Joubert Syndrome 1 |
|
Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas... |
OMIM:213300 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Cornelia De Lange Syndrome 1 |
|
Congenital diaphragmatic hernia, Short neck, Proximal placement of thumb, Hypertonia, Clinodactyl... |
OMIM:122470 |
Biotinidase Deficiency |
|
Respiratory distress, Apnea, Ataxia, Optic neuropathy, Optic atrophy, Spastic paraparesis, Limb m... |
ORPHA:79241 |
Idiopathic Neonatal Atrial Flutter |
|
Respiratory distress, Tachypnea |
ORPHA:45452 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress, Ataxia, Paraplegia |
ORPHA:927 |
Congenital Lobar Emphysema |
|
Respiratory distress, Emphysema |
ORPHA:1928 |
Scarf Syndrome |
|
Barrel-shaped chest, Inguinal hernia, Diastasis recti, Short neck, Abnormal form of the vertebral... |
OMIM:312830 |
Carnitine Deficiency, Systemic Primary |
|
Respiratory distress, Myopathy, Reduced muscle carnitine level |
OMIM:212140 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Short humerus, Short metacarpal, Short neck, Humeroradial synostosis, Ovoid... |
ORPHA:3404 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Neonatal inspiratory stridor, Periodic h... |
ORPHA:684 |
Familial Nasal Acilia |
|
Respiratory distress, Dyspnea, Bronchiectasis, Chronic rhinitis, Chronic sinusitis |
ORPHA:922 |
Tularemia |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:3392 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Periodic paralysis |
OMIM:170400 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Respiratory distress, Skeletal muscle atrophy, Short humerus, Short femur, Apnea, Ragged-red musc... |
ORPHA:17 |
Neurodegeneration And Seizures Due To Copper Transport Defect |
|
Cerebellar atrophy, Respiratory distress, Short femur, Pneumothorax, Short tibia, Limb hypertonia |
OMIM:620306 |
N-Acetylglutamate Synthase Deficiency |
|
Respiratory distress |
OMIM:237310 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... |
ORPHA:94080 |
Adnp Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Inguinal hernia, Broad hallux, Sandal gap, Abnorm... |
ORPHA:404448 |
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency |
|
Respiratory distress, Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen cont... |
ORPHA:367 |
Late-Infantile/Juvenile Krabbe Disease |
|
Decreased nerve conduction velocity, Prolonged brainstem auditory evoked potentials, EEG with per... |
ORPHA:206443 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... |
ORPHA:209905 |
Joubert Syndrome 38 |
|
Cerebellar vermis hypoplasia, Posteriorly rotated ears, Low-set ears, Molar tooth sign on MRI, In... |
OMIM:619476 |
Metaphyseal Chondromatosis With D-2-Hydroxyglutaric Aciduria |
|
Respiratory distress, Multiple joint contractures, Short neck, Metaphyseal widening, Irregular ve... |
ORPHA:99646 |
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9 |
|
Cerebellar atrophy, Death in infancy, Respiratory distress, Neonatal respiratory distress, Apnea,... |
OMIM:618426 |
Mgat2-Cdg |
|
Respiratory distress, Pectus excavatum, Kyphosis, Cerebellar hypoplasia, Scoliosis, Brachydactyly |
ORPHA:79329 |
Paget Disease Of Bone 2, Early-Onset |
|
Brain stem compression, Bilateral conductive hearing impairment |
OMIM:602080 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Abnormal thorax morphology, Tachypnea, Nasal flaring, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Doors Syndrome |
|
11 pairs of ribs, Thin upper lip vermilion, Small cerebellar cortex, Respiratory distress, Aplasi... |
ORPHA:79500 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Inguinal hernia, Vocal cord paresis, Ataxia, Avascular necrosis of ... |
ORPHA:581 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... |
ORPHA:79102 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Respiratory distress, Median cleft lip, Postaxial polydactyly, Postaxial hand polydactyly, Aplasi... |
OMIM:617088 |
Arboleda-Tham Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Brachydactyly, Neonatal respiratory distress, San... |
OMIM:616268 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Spontaneous, recurrent epistaxis, Paralysis, Pectus excavatum, Oculom... |
ORPHA:2072 |
Cerebrotendinous Xanthomatosis |
|
Cerebellar atrophy, Optic disc pallor, Abnormal cerebellar peduncle morphology, Abnormal auditory... |
ORPHA:909 |
Choanal Atresia |
|
Respiratory distress, Upper airway obstruction, Polydactyly, Tracheomalacia, Chronic sinusitis, A... |
ORPHA:137914 |
Thyroid Lymphoma |
|
Respiratory distress, Dyspnea, Stridor, Upper airway obstruction |
ORPHA:97285 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Apnea, Ataxia, Segmental peripheral demyelination/remyelination, Dyspnea, Chorea, Ragged-red musc... |
ORPHA:255210 |
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 1, Autosomal Recessive |
|
Respiratory distress, Lymphocytic interstitial pneumonia |
OMIM:245590 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
Respiratory distress, Thin upper lip vermilion, Sandal gap, Small hand, Prominent fingertip pads |
OMIM:612863 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Oromandibular Dystonia |
|
Respiratory distress, Torticollis, Hyperkinetic movements, Blepharospasm |
ORPHA:93958 |
Congenital Laryngeal Web |
|
Respiratory distress, Stridor |
ORPHA:2374 |
Holocarboxylase Synthetase Deficiency |
|
Respiratory distress, Tachypnea, Ataxia |
ORPHA:79242 |
Ciliary Dyskinesia, Primary, 2 |
|
Respiratory distress, Sinusitis, Bronchiectasis, Immotile cilia, Ciliary dyskinesia |
OMIM:606763 |
Leukodystrophy, Hypomyelinating, 13 |
|
Prolonged brainstem auditory evoked potentials, Optic atrophy |
OMIM:616881 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Camptodactyly of finger, Aplastic clavicle, Dyspnea, Patellar aplasia, Abno... |
ORPHA:2554 |
8Q24.3 Microdeletion Syndrome |
|
Respiratory distress, Thoracic scoliosis, Congenital hip dislocation, Short neck, Finger clinodac... |
ORPHA:508488 |
Codas Syndrome |
|
Omphalocele, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyseal dysplasia, ... |
OMIM:600373 |
Momo Syndrome |
|
Short neck, Thick lower lip vermilion, Femoral bowing, Short sternum, Congenital pseudoarthrosis ... |
ORPHA:2563 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Inhalational Botulism |
|
Dyspnea, Paralysis |
ORPHA:254504 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Respiratory distress, Increased variability in muscle fiber diameter, Stridor |
OMIM:615595 |
Listeriosis |
|
Back pain, Respiratory distress, Miscarriage, Pneumonia, Ataxia, Abnormal brainstem MRI signal in... |
ORPHA:533 |
Diamond-Blackfan Anemia 10 |
|
Respiratory distress, Supernumerary ribs, Congenital diaphragmatic hernia, Morgagni diaphragmatic... |
OMIM:613309 |
Gangliocytoma |
|
Abnormal cerebellum morphology, Abnormal brainstem morphology |
ORPHA:251937 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetrapa... |
OMIM:203700 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Respiratory failure, Interstitial pneumonitis |
ORPHA:330021 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hand tremor, Periodic paralysis |
OMIM:609153 |
Momo Syndrome |
|
Thick lower lip vermilion, Short sternum, Short neck |
OMIM:157980 |
Acquired Methemoglobinemia |
|
Respiratory distress, Dyspnea, Hypoxemia |
ORPHA:464453 |
Chronic Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529808 |
Acute Bilirubin Encephalopathy |
|
Sensorineural hearing impairment, Abnormal auditory evoked potentials |
ORPHA:529799 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Abnormal brainstem MRI signal intensity, Facial diplegia, Optic atrophy |
ORPHA:254930 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic nerve hypoplasia, Optic atrophy, Hypoplasia of the brainstem, Microtia, Atresia of the exte... |
OMIM:236670 |
Acute Disseminated Encephalomyelitis |
|
Interictal EEG abnormality, Abnormal brainstem MRI signal intensity, Abnormal cerebellum morpholo... |
ORPHA:83597 |
Renin-Angiotensin-Aldosterone System-Blocker-Induced Angioedema |
|
Respiratory distress, Upper airway obstruction |
ORPHA:100057 |
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability |
|
Respiratory distress, Congenital hip dislocation, Cerebellar vermis hypoplasia, Hypoplasia of the... |
ORPHA:480880 |
Fragile X-Associated Tremor/Ataxia Syndrome |
|
Diffuse cerebellar atrophy, Abnormal brainstem morphology, Abnormal autonomic nervous system phys... |
ORPHA:93256 |
Leukoencephalopathy-Spondyloepimetaphyseal Dysplasia Syndrome |
|
Abnormal brainstem MRI signal intensity |
ORPHA:83629 |
Congenital Alveolar Capillary Dysplasia |
|
Aganglionic megacolon, Pulmonary arterial hypertension, Abnormal vertebral morphology, Respirator... |
ORPHA:210122 |
Slc35A1-Cdg |
|
Respiratory distress, Pneumonia, Hypoxemia |
ORPHA:238459 |
Hypoglossia With Situs Inversus |
|
Respiratory distress, Upper airway obstruction |
OMIM:612776 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Respi... |
ORPHA:308552 |
Trisomy 10P |
|
Posteriorly rotated ears, Abnormal auditory evoked potentials, EEG with burst suppression, Abnorm... |
ORPHA:171929 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Overlapping toe, Chiari malformation, Optic atrophy, Respiratory distress |
OMIM:123790 |
Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic ... |
ORPHA:548 |
Fructose-1,6-Bisphosphatase Deficiency |
|
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... |
ORPHA:348 |
Cryptococcosis |
|
Respiratory distress, Pneumonia, Dyspnea, Pleural effusion, Cough, Limb muscle weakness, Abnormal... |
ORPHA:1546 |
Rift Valley Fever |
|
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity |
ORPHA:319251 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Tapered finger, Duplication of distal phalanx of toe, Duplicati... |
ORPHA:324540 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
Turnpenny-Fry Syndrome |
|
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Thin upper lip verm... |
OMIM:618371 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
|
Respiratory distress, Inguinal hernia, Long clavicles, Arachnodactyly, Overlapping toe, Contractu... |
ORPHA:83617 |
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Aganglionic megacolon, Short-segment aganglionic megacolon, ... |
OMIM:609136 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Abnormal brainstem MRI signal intensity |
ORPHA:444013 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Respiratory distress, Congenital diaphragmatic hernia |
OMIM:606164 |
Charcot-Marie-Tooth Disease Type 1F |
|
Decreased nerve conduction velocity, Absent brainstem auditory responses, Sensorineural hearing i... |
ORPHA:101085 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Mandibulofacial Dysostosis, Guion-Almeida Type |
|
Respiratory distress, Preaxial hand polydactyly, Slender finger, Proximal placement of thumb |
OMIM:610536 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Nasolacrimal Duct Cyst |
|
Intercostal retractions, Episodic respiratory distress, Stridor, Paroxysmal dyspnea, Abnormal bre... |
ORPHA:141083 |
Very Long Chain Acyl-Coa Dehydrogenase Deficiency |
|
Respiratory distress, Exercise-induced rhabdomyolysis, Pneumonia, Episodic tachypnea, Tachypnea |
ORPHA:26793 |
Rubinstein-Taybi Syndrome 1 |
|
Respiratory distress, Flexion contracture, Hypoplastic iliac wing, Clinodactyly of the 5th finger... |
OMIM:180849 |
Coccidioidomycosis |
|
Respiratory distress, Pneumonia, Cough, Abnormal long bone morphology, Abnormality of the vertebr... |
ORPHA:228123 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Cerebellar vermis hypoplasia, Congenital diaphragmatic hernia, Pectus carinatum, Vertebral segmen... |
OMIM:312870 |
Pseudohypoaldosteronism Type 2 |
|
Periodic paralysis |
ORPHA:757 |
Cerebellar-Facial-Dental Syndrome |
|
Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar hyp... |
ORPHA:444072 |
Ethylene Glycol Poisoning |
|
Ataxia, Facial palsy, Tachypnea, Episodic respiratory distress, Slurred speech, Myoclonus, Abnorm... |
ORPHA:31826 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Respiratory distress, Optic atrophy |
ORPHA:1555 |
Congenital Tracheomalacia |
|
Neonatal respiratory distress, Apnea, Intercostal retractions, Pneumonia, Productive cough, Dyspn... |
ORPHA:95430 |
Leigh Syndrome |
|
Cerebellar atrophy, Abnormal brainstem MRI signal intensity, Sensorineural hearing impairment, Fo... |
ORPHA:506 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Neonatal death, Respiratory distress |
OMIM:231680 |
Agnathia-Otocephaly Complex |
|
Respiratory distress, Tracheomalacia |
OMIM:202650 |
Cockayne Syndrome Type 1 |
|
Absent brainstem auditory responses, Optic atrophy, Macrotia, Abnormality of peripheral nerve con... |
ORPHA:90321 |
Neurodevelopmental Disorder With Growth Retardation, Dysmorphic Facies, And Corpus Callosum Abnormalities |
|
Proximal placement of thumb, Short sternum, Thick vermilion border, Clinodactyly of the 5th finge... |
OMIM:620113 |
Mosaic Variegated Aneuploidy Syndrome 1 |
|
Short neck, Embryonal rhabdomyosarcoma, Tetraplegia, Short sternum, Cerebellar hypoplasia, Dandy-... |
OMIM:257300 |
Donnai-Barrow Syndrome |
|
Omphalocele, Diaphragmatic eventration, Short sternum, Congenital diaphragmatic hernia |
OMIM:222448 |
Laryngeal Abductor Paralysis |
|
Stridor, Vocal cord paralysis |
OMIM:150260 |
Methylmalonic Acidemia With Homocystinuria, Type Cblc |
|
Respiratory distress, Ataxia, Pulmonary embolism, Optic atrophy, Poor fine motor coordination, Pu... |
ORPHA:79282 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Paralysis |
OMIM:176000 |
Cocaine Intoxication |
|
Respiratory distress, Involuntary movements, Tremor, Wheezing, Rhabdomyolysis, Tachypnea, Pneumot... |
ORPHA:90068 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Ataxia, Respirat... |
OMIM:256810 |
Heterotaxy, Visceral, 1, X-Linked |
|
Omphalocele, Absence of the sacrum, Respiratory distress, Congenital hip dislocation, Block verte... |
OMIM:306955 |
Scimitar Syndrome |
|
Respiratory distress, Abnormal hemidiaphragm morphology, Pneumothorax, Hypoplasia of the diaphrag... |
ORPHA:185 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Sacral dimple, Shyness, Unilateral vocal cord paralysis, Short middle phalanx... |
OMIM:301030 |
Idiopathic Hypereosinophilic Syndrome |
|
Respiratory distress, Skeletal muscle atrophy, Swelling of proximal interphalangeal joints, Pulmo... |
ORPHA:3260 |
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency |
|
Respiratory distress |
OMIM:251000 |
Bacterial Toxic-Shock Syndrome |
|
Respiratory distress, Myositis, Sinusitis, Pneumonia, Tachypnea |
ORPHA:36234 |
Arima Syndrome |
|
Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ... |
OMIM:243910 |
Cardiomyopathy, Familial Hypertrophic, 4 |
|
Respiratory distress, Myopathy, Dyspnea |
OMIM:115197 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Pulmonary arterial hyperte... |
ORPHA:2396 |
Full Nf2-Related Schwannomatosis |
|
Facial palsy, Bilateral vestibular schwannoma, Abnormal cerebellum morphology, Sensorineural hear... |
ORPHA:637 |
X-Linked Cerebral Adrenoleukodystrophy |
|
Abnormal brainstem white matter morphology, Hearing impairment |
ORPHA:139396 |
Duplication Of The Pituitary Gland |
|
Abnormal midbrain morphology, Hearing impairment |
ORPHA:314621 |
Cockayne Syndrome A |
|
Cerebellar atrophy, Abnormal pinna morphology, Abnormal auditory evoked potentials, Decreased ner... |
OMIM:216400 |
Inhalational Anthrax |
|
Respiratory distress, Dyspnea |
ORPHA:247257 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis |
OMIM:170500 |
Lujo Hemorrhagic Fever |
|
Respiratory distress, Resting tremor, Crackles, Nonproductive cough, Rhinitis |
ORPHA:319213 |
Cockayne Syndrome B |
|
Abnormal pinna morphology, Cerebellar calcifications, Abnormal auditory evoked potentials, Decrea... |
OMIM:133540 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Congenital Enterovirus Infection |
|
Respiratory distress, Pleural effusion |
ORPHA:292 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Ramos-Arroyo Syndrome |
|
Respiratory distress, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:1051 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression, Diaphyseal sclerosis |
OMIM:259730 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Prominent interphalangeal joints, Gait ataxia, Clinodactyly of t... |
OMIM:135900 |
Amoebiasis Due To Free-Living Amoebae |
|
Abnormal medulla oblongata morphology, Abnormal midbrain morphology, Facial palsy, Abnormal brain... |
ORPHA:68 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Abnormal brainstem morphology, Protruding ear |
ORPHA:464311 |
Gitelman Syndrome |
|
Rhabdomyolysis, Ataxia, Paralysis |
OMIM:263800 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Apnea, Ataxia, Vocal cord paralysis, Hyperkinetic move... |
OMIM:617799 |
Complete Atrioventricular Septal Defect |
|
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... |
ORPHA:1329 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Mend Syndrome |
|
Abnormal auditory evoked potentials, Dandy-Walker malformation, Low-set ears |
ORPHA:401973 |
Hemorrhagic Fever-Renal Syndrome |
|
Back pain, Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... |
ORPHA:340 |
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome |
|
Thin upper lip vermilion, Asthma, Nasal flaring, Poor coordination, Short palm, Brachydactyly |
ORPHA:466943 |
Methylmalonic Aciduria, Cbla Type |
|
Respiratory distress, Tremor |
OMIM:251100 |
Glycogen Storage Disease Of Heart, Lethal Congenital |
|
Respiratory distress, Apnea, Macroglossia, Myopathy, Pleural effusion |
OMIM:261740 |
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome |
|
Respiratory distress, Myositis, Interstitial pneumonitis, Pneumonia |
ORPHA:37042 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Respiratory distress, Everted upper lip vermilion, Rhinitis, Everted lower lip vermilion, Thick v... |
OMIM:305100 |
Thrombotic Thrombocytopenic Purpura, Hereditary |
|
Respiratory distress, Tremor |
OMIM:274150 |
Sepsis In Premature Infants |
|
Abnormal respiratory system physiology, Dyspnea, Nasal flaring, Abnormal mucociliary clearance |
ORPHA:90051 |
Auriculocondylar Syndrome |
|
Respiratory distress |
ORPHA:137888 |
Pachyonychia Congenita |
|
Respiratory distress |
ORPHA:2309 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Abnormal brainstem MRI signal intensity, Pontocerebellar atrophy, Facial palsy |
ORPHA:258 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Abnormal... |
ORPHA:805 |
Q Fever |
|
Respiratory distress, Pleural effusion, Pneumonia, Cough |
ORPHA:781 |
Gitelman Syndrome |
|
Respiratory distress, Rhabdomyolysis, Paralysis |
ORPHA:358 |
Hereditary Angioedema Type 1 |
|
Respiratory distress, Dyspnea, Inspiratory stridor |
ORPHA:100050 |
Methylmalonic Aciduria, Cblb Type |
|
Respiratory distress |
OMIM:251110 |
Lymphatic Malformation 7 |
|
Respiratory distress, Pleural effusion, Chylothorax |
OMIM:617300 |
Degcags Syndrome |
|
Syndactyly, Sacral dimple, Toe syndactyly, Pneumonia, Hiatus hernia, Short thumb, Preaxial hand p... |
OMIM:619488 |
Rodrigues Blindness |
|
Nasal flaring |
OMIM:268320 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Sacral dimple, Congenital diaphragmatic hernia, Dyspnea, Respiratory failure |
ORPHA:2556 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... |
ORPHA:3385 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Abnormal fingertip morphology, Dyspnea, Pneumothorax, Stridor, R... |
ORPHA:79404 |
Toxic Epidermal Necrolysis |
|
Respiratory distress, Restrictive ventilatory defect, Cough |
ORPHA:537 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... |
ORPHA:99413 |
Turner Syndrome |
|
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... |
ORPHA:881 |
Mosaic Monosomy X |
|
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... |
ORPHA:99228 |
Monosomy X |
|
Hypermobility of toe joints, Short neck, Pectus excavatum, Kyphosis, Short toe, Delayed early-chi... |
ORPHA:99226 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Paralysis |
ORPHA:18 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Colchicine Poisoning |
|
Respiratory distress, Cardiorespiratory arrest |
ORPHA:31824 |
Generalized Arterial Calcification Of Infancy |
|
Respiratory distress, Stippled calcification of the shoulder, Myocardial calcification, Abnormal ... |
ORPHA:51608 |
Semilobar Holoprosencephaly |
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Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Abnormality of the autonomic nervous system, Sensorineural hearing impairment, Abnormal brainstem... |
ORPHA:93924 |
Feingold Syndrome 1 |
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Short thumb, Short toe, 4-5 toe syndactyly, Vocal cord paralysis, 2-3 toe syndactyly, Everted low... |
OMIM:164280 |
Meningioma |
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Papilledema, Facial palsy, Ear pain, Abnormal cerebellum morphology, Brain stem compression, Tinn... |
ORPHA:2495 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Respiratory distress, Cervical ribs, Congenital diaphragmatic hernia |
ORPHA:2255 |
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type) |
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Respiratory distress, Death in infancy |
OMIM:617156 |
Leptospirosis |
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Respiratory distress, Papilledema, Rhabdomyolysis, Cough, Pleural effusion |
ORPHA:509 |
Williams-Beuren Syndrome |
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Hallux valgus, Inguinal hernia, Incoordination, Down-sloping shoulders, Kyphoscoliosis, Pectus ex... |
OMIM:194050 |
Congenital Tracheal Stenosis |
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Respiratory distress, Neonatal asphyxia, Wheezing, Dyspnea, Upper airway obstruction |
ORPHA:141127 |
Eisenmenger Syndrome |
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Respiratory distress, Increased pulmonary vascular resistance, Wheezing, Clubbing, Hypoxemia, Pul... |
ORPHA:97214 |
Aortic Arch Interruption |
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Left ventricular hypertrophy, Tachypnea, Respiratory distress, Exertional dyspnea |
ORPHA:2299 |
Pmm2-Cdg |
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Respiratory distress, Thin upper lip vermilion, Multiple joint contractures, Cerebellar vermis hy... |
ORPHA:79318 |
Kasabach-Merritt Syndrome |
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Respiratory distress, Hypopnea |
ORPHA:2330 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
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Abnormal midbrain morphology, Sensorineural hearing impairment, Abnormal autonomic nervous system... |
ORPHA:293987 |
Epidermolysis Bullosa, Junctional 7, With Interstitial Lung Disease And Nephrotic Syndrome |
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Respiratory distress, Respiratory acidosis, Neonatal respiratory distress, Narrow chest |
OMIM:614748 |
Isolated Arrhinia |
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Respiratory distress |
ORPHA:1134 |
Tyrosinemia, Type I |
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Periodic paralysis |
OMIM:276700 |
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Rhinitis, Co... |
ORPHA:95455 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Periodic hypokalemic paresis |
ORPHA:91347 |
Alström Syndrome |
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Respiratory distress, Optic disc pallor, Thoracic scoliosis, Incoordination, Ataxia, Kyphosis, Sh... |
ORPHA:64 |
Plague |
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Respiratory distress, Slurred speech, Acute infectious pneumonia |
ORPHA:707 |
Igg4-Related Thyroid Disease |
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Vocal cord paralysis |
ORPHA:64744 |
Congenital Total Pulmonary Venous Return Anomaly |
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Respiratory distress, Respiratory failure requiring assisted ventilation, Paroxysmal dyspnea, Apn... |
ORPHA:99125 |