Ectopia Lentis 2, Isolated, Autosomal Recessive |
|
Ectopia lentis |
OMIM:225100 |
Ectopia Lentis 1, Isolated, Autosomal Dominant |
|
Ectopia lentis |
OMIM:129600 |
Hereditary Hyperferritinemia-Cataract Syndrome |
|
Cataract |
ORPHA:163 |
Cataract 29 |
|
Cataract |
OMIM:115800 |
Cataract 35 |
|
Cataract |
OMIM:609376 |
Cataract 36 |
|
Cataract |
OMIM:613887 |
Cataract 4, Multiple Types |
|
Developmental cataract |
OMIM:115700 |
Cataract 13 With Adult I Phenotype |
|
Developmental cataract |
OMIM:116700 |
Cataract 37 |
|
Developmental cataract |
OMIM:614422 |
Cataract 45 |
|
Developmental cataract |
OMIM:616851 |
Cataract 38 |
|
Developmental cataract |
OMIM:614691 |
Cataract And Congenital Ichthyosis |
|
Cataract |
OMIM:212400 |
Cochleosaccular Degeneration With Progressive Cataracts |
|
Progressive cataract |
OMIM:120040 |
Cataract 44 |
|
Developmental cataract |
OMIM:616509 |
Hypertrophic Neuropathy And Cataract |
|
Cataract |
OMIM:239900 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Abnormal lower motor neuron morphology, Hand muscle atrophy, Distal muscle weakness, Hand muscle ... |
OMIM:607641 |
Spinal Muscular Atrophy, Type Iii |
|
Pelvic girdle amyotrophy, Spinal muscular atrophy, Proximal muscle weakness, Hand tremor, Degener... |
OMIM:253400 |
Charcot-Marie-Tooth Disease Type 2B1 |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Peroneal muscle atrophy, Hand mus... |
ORPHA:98856 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Parkinsonism... |
OMIM:105500 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:613954 |
Amyotrophic Lateral Sclerosis 4, Juvenile |
|
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... |
OMIM:602433 |
Monomelic Amyotrophy |
|
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Abnormality of periphe... |
ORPHA:65684 |
Glaucoma-Ectopia Lentis-Microspherophakia-Stiff Joints-Short Stature Syndrome |
|
Ectopia lentis |
ORPHA:2084 |
Cataract 12, Multiple Types |
|
Progressive cataract, Developmental cataract |
OMIM:611597 |
Spinal Muscular Atrophy, Type Ii |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cell... |
OMIM:253550 |
Trichomegaly |
|
Cataract |
OMIM:190330 |
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome |
|
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Decreased nerve conduction velocity, Dec... |
ORPHA:90103 |
Amyotrophic Lateral Sclerosis 5, Juvenile |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal muscle weakness, Re... |
OMIM:602099 |
Amyotrophic Lateral Sclerosis 8 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness, Postural tremor, ... |
OMIM:608627 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Respiratory distress, Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakne... |
OMIM:620011 |
Amyotrophic Lateral Sclerosis 1 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Degeneration of the lateral corticospinal... |
OMIM:105400 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 24 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Caudate atrophy, Respiratory insufficienc... |
OMIM:617892 |
Charcot-Marie-Tooth Disease, Dominant Intermediate B |
|
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal mu... |
OMIM:606482 |
Corneal Dystrophy, Groenouw Type I |
|
Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy |
OMIM:121900 |
Amyotrophic Lateral Sclerosis 9 |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Distal amyotrophy, Spasticity |
OMIM:611895 |
Charcot-Marie-Tooth Disease, Axonal, Type 2P |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... |
OMIM:614436 |
Cataract 42 |
|
Cataract, Developmental cataract |
OMIM:115900 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:615490 |
Corneal Dystrophy, Lisch Epithelial |
|
Corneal dystrophy |
OMIM:300778 |
Aldh18A1-Related De Barsy Syndrome |
|
Cataract |
ORPHA:35664 |
Mitochondrial Dna Depletion Syndrome 18 |
|
Hand muscle atrophy, Distal muscle weakness, Clonus, Proximal muscle weakness, Reduced forced vit... |
OMIM:618811 |
Amyotrophic Lateral Sclerosis 16, Juvenile |
|
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... |
OMIM:614373 |
Amyotrophic Lateral Sclerosis 11 |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Uppe... |
OMIM:612577 |
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy |
|
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... |
OMIM:159950 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1 |
|
Peripheral axonal degeneration, Distal muscle weakness, Spinal muscular atrophy, Camptodactyly of... |
OMIM:604320 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Distal muscle weakness, ... |
OMIM:605285 |
Hydrocephaly-Cerebellar Agenesis Syndrome |
|
Cataract |
ORPHA:1397 |
Hereditary Motor And Sensory Neuropathy, Okinawa Type |
|
Respiratory failure requiring assisted ventilation, Fatiguable weakness of proximal limb muscles,... |
ORPHA:90117 |
Muscular Dystrophy, Congenital, 1B |
|
Facial palsy, Gowers sign, Achilles tendon contracture, Generalized muscle hypertrophy, Diaphragm... |
OMIM:604801 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... |
OMIM:616439 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, B... |
OMIM:616437 |
Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
Cataract 7 |
|
Developmental cataract |
OMIM:115660 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5 |
|
Amyotrophic lateral sclerosis, Limb muscle weakness, Muscle weakness, Fasciculations |
OMIM:619141 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Reduced vital capacity, Distal muscle weakness, Autophagic vacuoles, Facial hypotonia, Proximal m... |
ORPHA:266 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Dyspnea,... |
ORPHA:803 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... |
ORPHA:399058 |
Amyotrophic Lateral Sclerosis 18 |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Fasciculations, Spasticity, Muscle weakness |
OMIM:614808 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... |
OMIM:616852 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... |
OMIM:105550 |
Myopathy And Diabetes Mellitus |
|
Respiratory distress, Distal lower limb amyotrophy, Peripheral axonal neuropathy, Achilles tendon... |
ORPHA:2596 |
Charcot-Marie-Tooth Disease, Type 4C |
|
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... |
OMIM:601596 |
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Distal lower limb amyotrophy, Peri... |
OMIM:302800 |
Distal Nebulin Myopathy |
|
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... |
ORPHA:399103 |
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal muscle weakness |
OMIM:205250 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Distal muscle weakness, Paralysis, Lower-l... |
OMIM:613710 |
Cataract 46, Juvenile-Onset, With Or Without Arrhythmic Cardiomyopathy |
|
Juvenile cataract |
OMIM:212500 |
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Respiratory failure, Tongue fasciculations, Fasciculations, Muscle... |
OMIM:613435 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Respiratory i... |
OMIM:605355 |
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Respiratory insufficiency due to muscle w... |
OMIM:612069 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 21 |
|
Scapular winging, Reduced forced vital capacity, Fatty replacement of skeletal muscle, Respirator... |
OMIM:617232 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Proximal ... |
OMIM:167320 |
Neuropathy, Hereditary Motor And Sensory, Okinawa Type |
|
Decreased number of peripheral myelinated nerve fibers, Proximal muscle weakness, Axonal degenera... |
OMIM:604484 |
Pontocerebellar Hypoplasia, Type 1C |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Respiratory insufficiency... |
OMIM:616081 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Neck flexor... |
OMIM:618138 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Distal muscle weakness, Ataxia, Proximal muscle weakness, External ophthalmoplegia, Tremor, Cereb... |
OMIM:618637 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... |
OMIM:158590 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Distal muscle weakness, Tremor, Vocal cord paralysis, Distal amyotrophy, Vocal cord paresis |
OMIM:158580 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... |
ORPHA:98902 |
Charcot-Marie-Tooth Disease, Type 4A |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Decreased number of pe... |
OMIM:214400 |
Multifocal Motor Neuropathy |
|
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... |
ORPHA:641 |
Spinal Muscular Atrophy-Dandy-Walker Malformation-Cataracts Syndrome |
|
Cataract |
ORPHA:73245 |
Galactosemia Iv |
|
Cataract |
OMIM:618881 |
Distal Anoctaminopathy |
|
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... |
ORPHA:399096 |
Cataract 14, Multiple Types |
|
Zonular cataract |
OMIM:601885 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... |
OMIM:607706 |
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Fasciculations, Proximal ... |
OMIM:608030 |
Oculopharyngodistal Myopathy |
|
Recurrent aspiration pneumonia, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal... |
ORPHA:98897 |
Nathalie Syndrome |
|
Cataract |
ORPHA:2663 |
Uncombable Hair Syndrome 2 |
|
Juvenile cataract |
OMIM:617251 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscle weakness, Abnormal morphology of muscu... |
ORPHA:600 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Progressive... |
ORPHA:178400 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Respiratory insufficiency due... |
OMIM:301830 |
Pontocerebellar Hypoplasia Type 1 |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Ataxia, Optic atrophy, Congenital laryngea... |
ORPHA:2254 |
Congenital Myopathy 10B, Mild Variant |
|
Neck flexor weakness, Elbow contracture, Reduced forced vital capacity, Fatty replacement of skel... |
OMIM:620249 |
Amyotrophic Lateral Sclerosis 19 |
|
Respiratory insufficiency due to muscle weakness, Amyotrophic lateral sclerosis |
OMIM:615515 |
Spinal Muscular Atrophy, Type I |
|
Poor head control, Spinal muscular atrophy, Respiratory insufficiency, Proximal amyotrophy, Proxi... |
OMIM:253300 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Prog... |
OMIM:620285 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Bulbar palsy, Distal muscl... |
OMIM:606070 |
Late-Onset Distal Myopathy, Markesbery-Griggs Type |
|
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... |
ORPHA:98912 |
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract |
|
Microcornea, Cataract, Aniridia |
OMIM:106230 |
Microphthalmia, Isolated, With Coloboma 3 |
|
Cataract, Iris coloboma |
OMIM:610092 |
Chorea, Remitting, With Nystagmus And Cataract |
|
Cataract |
OMIM:601372 |
Congenital Myopathy 10A, Severe Variant |
|
Respiratory distress, Poor head control, Facial palsy, Abnormal motor nerve conduction velocity, ... |
OMIM:614399 |
Charcot-Marie-Tooth Disease, Axonal, Type 2S |
|
Proximal muscle weakness, Axonal degeneration, Upper limb muscle weakness, Lower limb muscle weak... |
OMIM:616155 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Neck flexor weakness, Weakness of long finger extensor muscles, Upper li... |
ORPHA:98913 |
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities |
|
Cataract |
OMIM:300719 |
Amyotrophic Lateral Sclerosis 2, Juvenile |
|
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... |
OMIM:205100 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
|
Athetosis, Amyotrophic lateral sclerosis, Paralysis, Axonal loss |
OMIM:300857 |
Nemaline Myopathy 8 |
|
Facial palsy, Flexion contracture, Ophthalmoparesis, Respiratory failure, Myofibrillar myopathy, ... |
OMIM:615348 |
Lethal Congenital Contracture Syndrome 7 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Paralysis, Cerebral atrophy, Knee flexion contractur... |
OMIM:616286 |
Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Distal muscle weakness, Abnormal ... |
ORPHA:1145 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Respiratory insufficiency, Upp... |
OMIM:605253 |
Foveal Hypoplasia 1 |
|
Presenile cataracts |
OMIM:136520 |
Pontocerebellar Hypoplasia, Type 1A |
|
Ataxia, Spinal muscular atrophy, Respiratory insufficiency, Hand tremor, Degeneration of anterior... |
OMIM:607596 |
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay |
|
Cataract, Developmental cataract |
OMIM:613076 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Distal muscle weakness, Proximal muscle weakness, Fatty replacemen... |
ORPHA:52430 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Reduced vital capacity, Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadric... |
OMIM:603689 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Segmental peripheral demyelination/remyelination, Hand... |
OMIM:162500 |
Alpha-N-Acetylgalactosaminidase Deficiency Type 3 |
|
Cataract |
ORPHA:79281 |
Krabbe Disease, Atypical, Due To Saposin A Deficiency |
|
Central apnea, Peripheral axonal neuropathy, Respiratory insufficiency, Respiratory failure, Hype... |
OMIM:611722 |
Myopathy, Myofibrillar, 4 |
|
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... |
OMIM:609452 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... |
ORPHA:59135 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Poor head control, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Fl... |
OMIM:300717 |
Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
Cataract 47 |
|
Microcornea, Cataract |
OMIM:612018 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... |
ORPHA:254361 |
Duchenne Muscular Dystrophy |
|
Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Flexion contractu... |
ORPHA:98896 |
Mitochondrial Dna Depletion Syndrome, Myopathic Form |
|
Respiratory distress, Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia... |
ORPHA:254875 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Prog... |
OMIM:611588 |
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia |
|
Cerebellar atrophy, Peripheral axonal degeneration, Progressive external ophthalmoplegia, Ataxia,... |
OMIM:208920 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Distal lower ... |
OMIM:620068 |
Iris Pigment Layer, Cleavage Of |
|
Cataract |
OMIM:147610 |
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism |
|
Cataract |
OMIM:254000 |
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia |
|
Amyotrophic lateral sclerosis, Distal amyotrophy |
OMIM:205200 |
Congenital Myopathy 14 |
|
Hip contracture, Apnea, Proximal muscle weakness, Respiratory insufficiency due to muscle weaknes... |
OMIM:618414 |
Galactosemia Ii |
|
Cataract |
OMIM:230200 |
Thumb, Hypoplastic, With Choroid Coloboma, Poorly Developed Antihelix, And Deafness |
|
Cataract |
OMIM:274205 |
Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
Charcot-Marie-Tooth Disease, Axonal, Type 2A1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:118210 |
Foveal Hypoplasia-Presenile Cataract Syndrome |
|
Cataract |
ORPHA:2253 |
Arts Syndrome |
|
Ataxia, Progressive muscle weakness, Optic atrophy, Tetraplegia, Spinal cord posterior columns my... |
OMIM:301835 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... |
ORPHA:399086 |
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability |
|
Hand muscle atrophy, Bulbar palsy, Ankle clonus, Hemiparesis, Respiratory failure, Tongue fascicu... |
OMIM:600561 |
X-Linked Retinoschisis |
|
Cataract |
ORPHA:792 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Prog... |
ORPHA:169186 |
Microphthalmia, Isolated, With Cataract 1 |
|
Cataract |
OMIM:156850 |
Amyotrophy, Hereditary Neuralgic |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Axonal degeneration, Brachial plexus neu... |
OMIM:162100 |
Cataract 10, Multiple Types |
|
Nuclear cataract, Zonular cataract, Posterior Y-sutural cataract, Developmental cataract |
OMIM:600881 |
Hypoalphalipoproteinemia, Primary, 2 |
|
Corneal arcus, Cataract |
OMIM:618463 |
Machado-Joseph Disease Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Progressive gait ataxia, ... |
ORPHA:276244 |
Proximal Myotonic Myopathy |
|
Cataract |
ORPHA:606 |
Amyotrophic Lateral Sclerosis 23 |
|
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis |
OMIM:617839 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Facial palsy, Elbow contracture, Proximal muscle wea... |
OMIM:606612 |
Desminopathy |
|
Neck flexor weakness, Respiratory insufficiency due to muscle weakness, Progressive muscle weakne... |
ORPHA:98909 |
Myopathy, Myofibrillar, 5 |
|
Proximal muscle weakness, Respiratory insufficiency, Abnormal peripheral nervous system morpholog... |
OMIM:609524 |
Cataract 8, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:115665 |
Amyotrophic Lateral Sclerosis 20 |
|
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy |
OMIM:615426 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Respiratory insufficiency |
ORPHA:640 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4 |
|
Abnormal lower motor neuron morphology, Distal muscle weakness, Spinal muscular atrophy, Proximal... |
OMIM:611067 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Cataract 1, Multiple Types |
|
Microcornea, Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract |
OMIM:116200 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Hypoglycosylation of alpha-dystroglycan, Multiple joint contractures, Facial palsy, Reduced muscl... |
ORPHA:370968 |
Distal Myotilinopathy |
|
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... |
ORPHA:98911 |
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia |
|
Corneal dystrophy, Developmental cataract |
OMIM:271320 |
Juvenile Primary Lateral Sclerosis |
|
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Abnor... |
ORPHA:247604 |
Cataract 22, Multiple Types |
|
Nuclear cataract, Developmental cataract |
OMIM:609741 |
Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome |
|
Abnormal lower motor neuron morphology, Lower limb muscle weakness, Respiratory insufficiency due... |
ORPHA:2590 |
Neutropenia, Severe Congenital, 9, Autosomal Dominant |
|
Cataract |
OMIM:619813 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Neck flexor weakness, Progressive muscle weakness, Ragged-red muscle fib... |
OMIM:157640 |
Central Cloudy Dystrophy Of Francois |
|
Central corneal dystrophy, Corneal dystrophy |
OMIM:217600 |
Schnyder Corneal Dystrophy |
|
Corneal dystrophy, Crystalline corneal dystrophy |
OMIM:121800 |
Combined Oxidative Phosphorylation Deficiency 51 |
|
Neonatal respiratory distress, Rigidity, Optic atrophy, Cerebral atrophy, Respiratory failure, My... |
OMIM:619057 |
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related |
|
Apnea, Rigidity, Respiratory insufficiency, Respiratory failure, Hypertonia, Muscular dystrophy |
OMIM:613869 |
Hemolytic Anemia Due To Glutathione Reductase Deficiency |
|
Cataract |
OMIM:618660 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... |
ORPHA:300605 |
Butyrylcholinesterase Deficiency |
|
Respiratory failure requiring assisted ventilation, Respiratory failure, Paralysis |
ORPHA:132 |
Marinesco-Sjogren Syndrome |
|
Cerebellar atrophy, Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, ... |
OMIM:248800 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:609260 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... |
ORPHA:101097 |
Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
Congenital Cataracts, Facial Dysmorphism, And Neuropathy |
|
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Ataxia, Acute rhabdomy... |
OMIM:604168 |
Spastic Paraparesis And Deafness |
|
Cataract |
OMIM:312910 |
Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
Congenital Myopathy 4B, Autosomal Recessive |
|
Distal lower limb amyotrophy, Proximal muscle weakness, Flexion contracture, Generalized muscle w... |
OMIM:609284 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Peripheral axonal neuropathy, Spinal musc... |
OMIM:616867 |
Cataract 3, Multiple Types |
|
Nuclear pulverulent cataract, Sutural cataract, Cerulean cataract, Developmental cataract |
OMIM:601547 |
Aniridia-Intellectual Disability Syndrome |
|
Aniridia, Cataract, Ectopia lentis |
ORPHA:1068 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Ataxia, Parkinsonism, Proximal muscle weakness, Babi... |
OMIM:615911 |
Spinal Muscular Atrophy, Segmental |
|
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy |
OMIM:183020 |
Spinocerebellar Ataxia, Autosomal Recessive 24 |
|
Cataract |
OMIM:617133 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Abnormal anterior horn cell morphology, Pa... |
OMIM:611890 |
Prkar1B-Related Neurodegenerative Dementia With Intermediate Filaments |
|
Diffuse cerebral atrophy, Parkinsonism, Motor neuron atrophy, Frontotemporal cerebral atrophy, Br... |
ORPHA:412066 |
Lethal Congenital Contracture Syndrome 8 |
|
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... |
OMIM:616287 |
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 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... |
ORPHA:610 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Generalized muscle w... |
ORPHA:171433 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Respiratory distress, Skeletal muscle atrophy, Hand muscle atrophy, Vocal cord paralysis, Tongue ... |
OMIM:211530 |
Charcot-Marie-Tooth Disease, Axonal, Type 2B1 |
|
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... |
OMIM:605588 |
Triose Phosphate-Isomerase Deficiency |
|
Decreased nerve conduction velocity, Skeletal muscle atrophy, Central nervous system degeneration... |
ORPHA:868 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... |
OMIM:609286 |
Cataract 11, Multiple Types |
|
Cataract, Developmental cataract |
OMIM:610623 |
Cataract, Age-Related Nuclear |
|
Nuclear cataract |
OMIM:601371 |
Cataract 18 |
|
Nuclear cataract |
OMIM:610019 |
Cataract 41 |
|
Nuclear cataract |
OMIM:116400 |
Muscular Dystrophy, Congenital, With Or Without Seizures |
|
Respiratory distress, Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, ... |
OMIM:620166 |
Myopathy, Myofibrillar, 6 |
|
Scapular winging, Distal muscle weakness, Facial palsy, Proximal muscle weakness, Reduced forced ... |
OMIM:612954 |
Ceroid Lipofuscinosis, Neuronal, 10 |
|
Cerebellar atrophy, Apnea, Increased neuronal autofluorescent lipopigment, Ataxia, Rigidity, Cere... |
OMIM:610127 |
Spinocerebellar Ataxia Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Postural tremor, Chorea, Optic atrophy, Slurred spee... |
ORPHA:98755 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased number of periphera... |
OMIM:614895 |
Cataract 9, Multiple Types |
|
Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma |
OMIM:604219 |
Charcot-Marie-Tooth Disease Type 4A |
|
Distal muscle weakness, Frequent falls, Hand muscle weakness, Decreased nerve conduction velocity... |
ORPHA:99948 |
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis |
OMIM:616208 |
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Tremor, Flexion contracture, Optic atro... |
OMIM:616505 |
Myopia 17, Autosomal Dominant |
|
Presenile cataracts |
OMIM:608367 |
Hyperferritinemia With Or Without Cataract |
|
Nuclear cataract, Pulverulent cataract |
OMIM:600886 |
Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Hypoplasia of the iris, Iris transillumi... |
OMIM:617319 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... |
ORPHA:98905 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... |
ORPHA:663 |
Nathalie Syndrome |
|
Cataract |
OMIM:255990 |
Cortical Dysplasia, Complex, With Other Brain Malformations 4 |
|
Cataract |
OMIM:615412 |
Triosephosphate Isomerase Deficiency |
|
Respiratory distress, Optic disc pallor, Skeletal muscle atrophy, Respiratory insufficiency due t... |
OMIM:615512 |
Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
Kyrle Disease |
|
Posterior subcapsular cataract |
OMIM:149500 |
Cataract 43 |
|
Posterior subcapsular cataract |
OMIM:616279 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Torticollis, Frequent falls, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion... |
ORPHA:75840 |
Hyperekplexia 4 |
|
Flexion contracture, Cerebral atrophy, Respiratory failure, Distal arthrogryposis, Hypertonia, My... |
OMIM:618011 |
Cataract-Nephropathy-Encephalopathy Syndrome |
|
Cataract |
ORPHA:1380 |
X-Linked Progressive Cerebellar Ataxia |
|
Distal lower limb amyotrophy, Babinski sign, Cerebellar vermis atrophy, Dysmetria, Clumsiness, Sp... |
ORPHA:1175 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Central apnea, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Ex... |
ORPHA:71277 |
Hypokalemic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Paralysis, Episodic flaccid weakness, Respiratory paralysis, In... |
ORPHA:681 |
Primary Lateral Sclerosis, Juvenile |
|
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... |
OMIM:606353 |
Charcot-Marie-Tooth Disease, Dominant Intermediate D |
|
Distal muscle weakness, Segmental peripheral demyelination/remyelination, Upper limb muscle weakn... |
OMIM:607791 |
Charcot-Marie-Tooth Disease, Type 4J |
|
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle flexion contracture, Dec... |
OMIM:611228 |
Neuromyelitis Optica Spectrum Disorder |
|
Paraplegia, Respiratory failure, Neuronal loss in central nervous system, Peripheral demyelinatio... |
ORPHA:71211 |
Aniridia 2 |
|
Aniridia, Iris coloboma, Cataract, Lens subluxation |
OMIM:617141 |
Infantile Refsum Disease |
|
Ataxia, Facial palsy, Progressive muscle weakness, Optic atrophy, Spasticity |
ORPHA:772 |
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome |
|
Progressive proximal muscle weakness, Chorea, Cerebral atrophy, Restrictive ventilatory defect, M... |
ORPHA:369847 |
Cataract 20, Multiple Types |
|
Lamellar cataract, Membranous cataract, Sutural cataract, Cortical cataract |
OMIM:116100 |
Proximal Spinal Muscular Atrophy |
|
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... |
ORPHA:70 |
Amyotrophic Lateral Sclerosis, Susceptibility To, 25 |
|
Amyotrophic lateral sclerosis |
OMIM:617921 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Centrally nucleated skeletal muscle fibers, Reduced forced vital capacity, Progressive muscle wea... |
OMIM:619518 |
Amyotrophic Lateral Sclerosis 26 With Or Without Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Bulbar palsy, Limb muscle weakness |
OMIM:619133 |
Cataract 39, Multiple Types |
|
Lamellar cataract, Anterior polar cataract, Developmental cataract |
OMIM:615188 |
Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
Myopia 28, Autosomal Recessive |
|
Cataract |
OMIM:619781 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Bulbar palsy, Distal muscle weakness, Weakness due to upp... |
ORPHA:275872 |
Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Neuronal loss in central nervous system, Parkinsonism |
OMIM:600274 |
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy |
|
Cerebellar atrophy, Peripheral axonal neuropathy, Ataxia, Spinal muscular atrophy, Optic atrophy,... |
OMIM:617207 |
Microcornea, Rod-Cone Dystrophy, Cataract, And Posterior Staphyloma 1 |
|
Microcornea, Cataract |
OMIM:619082 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Cataract 5, Multiple Types |
|
Pulverulent cataract, Nuclear cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract |
OMIM:116800 |
Optic Atrophy 3, Autosomal Dominant |
|
Cataract |
OMIM:165300 |
Spinocerebellar Ataxia Type 26 |
|
Cerebellar atrophy, Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progres... |
ORPHA:101112 |
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome |
|
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... |
ORPHA:95434 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Gowers sign, Ophthalmoplegia, Generalized muscle weakness, Respiratory insufficienc... |
OMIM:616325 |
Dysequilibrium Syndrome |
|
Cataract |
ORPHA:1766 |
Congenital Myopathy 21 With Early Respiratory Failure |
|
Dyspnea, Diaphragmatic weakness, Respiratory failure, Nocturnal hypoventilation, Brain atrophy, E... |
OMIM:620326 |
Spastic Paralysis, Infantile-Onset Ascending |
|
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... |
OMIM:607225 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Cerebellar atrophy, Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Neurode... |
OMIM:615919 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Progressive muscle weakness, Ragged-red muscle fibers |
OMIM:619024 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Charcot-Marie-Tooth syndrome type 1A (CMT1A) |
|
Decreased motor nerve conduction velocity, Hypertrophic nerve changes, Abnormal motor neuron morp... |
DECIPHER:29 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... |
OMIM:620138 |
Cataract 30, Multiple Types |
|
Posterior polar cataract, Diffuse nuclear cataract, Pulverulent cataract |
OMIM:116300 |
Bardet-Biedl Syndrome 18 |
|
Cataract |
OMIM:615995 |
Primary Lateral Sclerosis, Adult, 1 |
|
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... |
OMIM:611637 |
Cataract 32, Multiple Types |
|
Anterior polar cataract |
OMIM:115650 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Episodic flaccid weakness, Myopathy, Periodic paralysis |
OMIM:613345 |
Gm2-Gangliosidosis, Ab Variant |
|
Poor head control, Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnorma... |
OMIM:272750 |
Cataract 17, Multiple Types |
|
Microcornea, Nuclear cataract, Pulverulent cataract, Developmental cataract |
OMIM:611544 |
Combined Oxidative Phosphorylation Defect Type 29 |
|
Optic neuropathy, Axonal degeneration, Poor coordination, Neurodegeneration, Abnormal autonomic n... |
ORPHA:478029 |
Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Respiratory failure, Ragged-red muscle fibers, Muscle weakness |
OMIM:616794 |
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Ophthalmoplegia, Abnormal mitochondria in muscle tissue, Muscle weakness, Abnormal cranial nerve ... |
OMIM:258470 |
Peroxisome Biogenesis Disorder 11B |
|
Progressive muscle weakness, Muscle weakness |
OMIM:614885 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Cerebellar atrophy, Optic disc pallor, Ataxia, Spastic tetraparesis, External ophthalmoplegia, Ta... |
OMIM:615838 |
Charcot-Marie-Tooth Disease, Dominant Intermediate A |
|
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... |
OMIM:620378 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmat... |
ORPHA:230800 |
Myasthenic Syndrome, Congenital, 16 |
|
External ophthalmoplegia, Apnea, Periodic paralysis, Fatigable weakness |
OMIM:614198 |
Primary Lateral Sclerosis |
|
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... |
ORPHA:35689 |
Severe Neurodegenerative Syndrome With Lipodystrophy |
|
Caudate atrophy, Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Cerebral atrop... |
ORPHA:363400 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Abnormal spinal cord morphology, Axonal degeneration, Gait ataxia, Ab... |
ORPHA:88628 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Leber Congenital Amaurosis 7 |
|
Keratoconus, Cataract |
OMIM:613829 |
Aniridia And Absent Patella |
|
Aniridia, Cataract |
OMIM:106220 |
Pontocerebellar Hypoplasia, Type 4 |
|
Respiratory failure, Hypertonia, Congenital contracture, Myoclonus, Spasticity |
OMIM:225753 |
Idiopathic Camptocormia |
|
Amyotrophic lateral sclerosis, Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fa... |
ORPHA:1320 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibers, Generalized... |
OMIM:600462 |
Cataract 31, Multiple Types |
|
Posterior subcapsular cataract, Anterior subcapsular cataract, Nuclear cataract |
OMIM:605387 |
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency |
|
Apnea, Respiratory failure, Brain atrophy, Atrophy/Degeneration affecting the brainstem, Spasticity |
OMIM:616277 |
Immunoneurologic Disorder, X-Linked |
|
Progressive proximal muscle weakness, Spastic paraplegia |
OMIM:300076 |
Glycine Encephalopathy 2 |
|
Respiratory failure |
OMIM:620398 |
Multiple Mitochondrial Dysfunctions Syndrome 3 |
|
Generalized muscle weakness, Optic atrophy, Spastic tetraplegia, Respiratory insufficiency, Cereb... |
OMIM:615330 |
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia |
|
Respiratory distress, Poor head control, Ataxia, Tachypnea, Optic atrophy, Respiratory insufficie... |
OMIM:614299 |
Congenital Myopathy 15 |
|
Reduced forced vital capacity, Fatty replacement of skeletal muscle, Vocal cord paralysis, Increa... |
OMIM:620161 |
Congenital Fiber-Type Disproportion Myopathy |
|
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Aspiration pneumonia,... |
ORPHA:2020 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis |
OMIM:170400 |
Combined Oxidative Phosphorylation Deficiency 29 |
|
Cerebellar atrophy, Optic neuropathy, Axonal degeneration, Optic atrophy, Spasticity, Global brai... |
OMIM:616811 |
Coats Disease |
|
Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology |
ORPHA:190 |
Cornea Guttata With Anterior Polar Cataracts |
|
Anterior polar cataract |
OMIM:121390 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Cerebellar atrophy, Diffuse cerebral atrophy, Ataxia, Tremor, Progressive muscle weakness, Ragged... |
OMIM:607426 |
Poliomyelitis |
|
Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, Bulbar palsy, Abnorm... |
ORPHA:2912 |
Developmental And Epileptic Encephalopathy 71 |
|
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency |
OMIM:618328 |
Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
Mitochondrial Complex I Deficiency, Nuclear Type 10 |
|
Apnea, Central hypoventilation, Ataxia, External ophthalmoplegia, Optic atrophy, Dysmetria, Respi... |
OMIM:618233 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 2 |
|
Peripheral axonal degeneration, Skeletal muscle atrophy, Tremor, Dysmetria, Gait ataxia, Ataxia, ... |
OMIM:615157 |
Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Leg, Absence Deformity Of, With Congenital Cataract |
|
Progressive cataract, Developmental cataract |
OMIM:246000 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Progressive distal muscle weakness, Proximal muscle weakness, Decreased nerve conduction velocity... |
ORPHA:397744 |
Spinal muscular atrophy, type I, with congenital bone fractures |
|
Respiratory distress, Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular... |
OMIM:271225 |
Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
Cataract 15, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:615274 |
Cataract 33, Multiple Types |
|
Lamellar cataract, Nuclear cataract, Cortical cataract |
OMIM:611391 |
Retinitis Pigmentosa 40 |
|
Cataract |
OMIM:613801 |
Aniridia 3 |
|
Aniridia, Cataract |
OMIM:617142 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakne... |
OMIM:610131 |
Adrenomyeloneuropathy |
|
Peripheral axonal degeneration, Atrophy/Degeneration involving the corticospinal tracts, Atrophy ... |
ORPHA:139399 |
Thanatophoric Dysplasia, Glasgow Variant |
|
Cataract |
OMIM:273680 |
Cataract 2, Multiple Types |
|
Aculeiform cataract, Nuclear pulverulent cataract, Developmental cataract, Microcornea, Nuclear c... |
OMIM:604307 |
Pellagra-Like Syndrome |
|
Cataract |
OMIM:260650 |
Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... |
ORPHA:171430 |
Cataract 24 |
|
Anterior polar cataract |
OMIM:601202 |
Machado-Joseph Disease Type 1 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Progressive external o... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
|
Cerebellar atrophy, Skeletal muscle atrophy, Distal lower limb amyotrophy, Progressive external o... |
ORPHA:276241 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Neonatal asphyxia, Vocal cord paralysis, Bronchiectasis, Congenital laryngeal stridor |
ORPHA:2375 |
Corneal Dystrophy, Fuchs Endothelial, 1 |
|
Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran... |
OMIM:136800 |
Immunodeficiency 95 |
|
Respiratory distress, Respiratory failure, Recurrent viral pneumonia |
OMIM:619773 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Cerebellar atrophy, Limb joint contracture, Flexion co... |
OMIM:618186 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Cerebellar atrophy, Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle... |
ORPHA:352447 |
Mitochondrial Complex I Deficiency, Nuclear Type 18 |
|
Optic disc pallor, Respiratory failure, Hypertonia, Myoclonus |
OMIM:618240 |
Isolated Aniridia |
|
Aniridia, Cataract, Peters anomaly |
ORPHA:250923 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane |
ORPHA:1067 |
Leigh Syndrome |
|
Ataxia, Ophthalmoplegia, Optic atrophy, Respiratory insufficiency, Respiratory failure, Spasticit... |
OMIM:256000 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Abnormal pyramidal sign, Vocal cor... |
ORPHA:98757 |
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z |
|
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... |
ORPHA:466768 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Generalized muscle weakness, Hand tremor, Periodic paralysis |
OMIM:609153 |
Cataract 40 |
|
Nuclear cataract, Sutural cataract |
OMIM:302200 |
Leber Congenital Amaurosis 6 |
|
Keratoconus, Cataract |
OMIM:613826 |
Ichthyosis-Intellectual Disability-Dwarfism-Renal Impairment Syndrome |
|
Cataract |
ORPHA:2278 |
Corneal Dystrophy, Fuchs Endothelial, 8 |
|
Corneal dystrophy, Corneal guttata |
OMIM:615523 |
Cochleosaccular Degeneration-Cataract Syndrome |
|
Cataract |
ORPHA:3233 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... |
OMIM:601650 |
Muscular Dystrophy, Duchenne Type |
|
Hypoventilation, Calf muscle pseudohypertrophy, Respiratory insufficiency due to muscle weakness,... |
OMIM:310200 |
Autosomal Recessive Spastic Paraplegia Type 69 |
|
Cataract |
ORPHA:401830 |
Hypogonadism-Cataract Syndrome |
|
Cataract |
OMIM:240950 |
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... |
ORPHA:368 |
Adult Intestinal Botulism |
|
Cerebral palsy, Respiratory insufficiency due to muscle weakness, Dyspnea, Diaphragmatic paralysi... |
ORPHA:178487 |
Multiple Mitochondrial Dysfunctions Syndrome 1 |
|
Spastic tetraparesis, Respiratory insufficiency, Opisthotonus, Respiratory failure, Abnormality o... |
OMIM:605711 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
|
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Distal muscle w... |
OMIM:601152 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Cataract 23, Multiple Types |
|
Lamellar cataract |
OMIM:610425 |
Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
Hereditary Liability to Pressure Palsies (HNPP) |
|
Abnormal motor neuron morphology, Motor conduction block |
DECIPHER:31 |
Primary Angiitis Of The Central Nervous System |
|
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Infantile Krabbe Disease |
|
Respiratory distress, Prolonged brainstem auditory evoked potentials, Diffuse cerebral atrophy, P... |
ORPHA:206436 |
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development |
|
Cataract, Iris coloboma |
OMIM:120433 |
Cataract 48 |
|
Cataract |
OMIM:618415 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Ectopia lentis |
OMIM:110150 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Cerebral atrophy, Apneic episodes precipitated by illness, fatigue, stress, Choreoathetos... |
OMIM:312170 |
Familial Cervical Artery Dissection |
|
Facial palsy, Paralysis |
ORPHA:36382 |
Renal Hypodysplasia/Aplasia 4 |
|
Respiratory failure |
OMIM:619887 |
Leukoencephalopathy With Vanishing White Matter 2 |
|
Cataract |
OMIM:620312 |
Cataract 6, Multiple Types |
|
Posterior polar cataract, Developmental cataract |
OMIM:116600 |
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria) |
|
Skeletal muscle atrophy, Neonatal respiratory distress, Poor head control, Respiratory insufficie... |
OMIM:245400 |
Foodborne Botulism |
|
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... |
ORPHA:228371 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory distress, Skeletal muscle atrophy, Tremor,... |
ORPHA:79139 |
Snakebite Envenomation |
|
Epistaxis, Paralysis, Rhabdomyolysis, Respiratory failure, Pseudobulbar paralysis, Muscle fiber n... |
ORPHA:449285 |
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome |
|
Cerebellar atrophy, Respiratory failure requiring assisted ventilation, Skeletal muscle atrophy, ... |
ORPHA:496641 |
X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
Bronchopulmonary Dysplasia |
|
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Dyspnea,... |
ORPHA:70589 |
Lethal Osteosclerotic Bone Dysplasia |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:1832 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Reduced vital capacity, Decreased distal sensory nerve a... |
ORPHA:99956 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Respiratory failure requiring assisted ventilation, Bu... |
ORPHA:79138 |
Congenital Varicella Syndrome |
|
Cataract |
ORPHA:291 |
Boucher-Neuhauser Syndrome |
|
Cerebellar atrophy, Ataxia, Gait ataxia, Spinocerebellar atrophy, Distal amyotrophy, Abnormal upp... |
OMIM:215470 |
Hyperkalemic Periodic Paralysis |
|
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Re... |
ORPHA:682 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 8 |
|
Amyotrophic lateral sclerosis, Global brain atrophy |
OMIM:619132 |
Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
Amoebic Keratitis |
|
Iris atrophy, Cataract, Abnormal corneal epithelium morphology, Abnormal anterior chamber morphol... |
ORPHA:67043 |
Myopia, High, With Cataract And Vitreoretinal Degeneration |
|
Cataract, Lens subluxation |
OMIM:614292 |
Congenital Neuronal Ceroid Lipofuscinosis |
|
Cerebellar atrophy, Neonatal respiratory distress, Apnea, Respiratory failure, Spasticity |
ORPHA:168486 |
Edict Syndrome |
|
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract |
OMIM:614303 |
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome |
|
Cataract, Corneal dystrophy |
ORPHA:1369 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle... |
OMIM:619574 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
|
Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Angioedema, Hereditary, 1 |
|
Peripheral axonal neuropathy, Axonal degeneration, Muscle weakness |
OMIM:106100 |
De Sanctis-Cacchione Syndrome |
|
Ataxia, Axonal degeneration, Optic atrophy, Scissor gait, Cerebral atrophy, Babinski sign, Choreo... |
OMIM:278800 |
Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
Variegate Porphyria |
|
Paralysis |
OMIM:176200 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Respiratory failure, Respiratory insufficiency, Knee flexion contracture |
OMIM:313420 |
Vitreoretinal Degeneration, Snowflake Type |
|
Cataract, Corneal guttata |
OMIM:193230 |
Cerebrotendinous Xanthomatosis |
|
Axonal degeneration, Abnormal pyramidal sign, Ataxia, Parkinsonism, Distal amyotrophy, Spastic pa... |
ORPHA:909 |
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1 |
|
Torticollis, Ataxia, Tremor, Myelopathy, Rigidity, Bradypnea, Cervical myelopathy, Respiratory fa... |
OMIM:617186 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Respiratory distress, Gowers sign, Flexion contracture, Fatigable weakness of respiratory muscles... |
ORPHA:365 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Central apnea, Skeletal muscle atrophy, Multiple joint contractures, Respiratory insufficiency du... |
OMIM:618291 |
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities |
|
Cerebellar atrophy, Exaggerated startle response, Limb joint contracture, Tremor, Respiratory fai... |
OMIM:620327 |
Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type |
|
Ataxia, Chorea, Respiratory failure, Spasticity, Muscle weakness |
ORPHA:70472 |
Kahrizi Syndrome |
|
Cataract, Iris coloboma |
OMIM:612713 |
Neurodegeneration With Brain Iron Accumulation 4 |
|
Abnormal lower motor neuron morphology, Cerebellar atrophy, Scapular winging, Distal muscle weakn... |
OMIM:614298 |
Absence Deformity Of Leg-Cataract Syndrome |
|
Cataract |
ORPHA:2310 |
Cataract 16, Multiple Types |
|
Posterior polar cataract, Lenticonus, Developmental cataract |
OMIM:613763 |
Rabies |
|
Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Ane Syndrome |
|
Motor neuron atrophy, Multiple joint contractures, Generalized amyotrophy |
ORPHA:157954 |
Split-Hand With Congenital Nystagmus, Fundal Changes, And Cataracts |
|
Cataract |
OMIM:183800 |
Pelizaeus-Merzbacher Disease, Connatal Form |
|
Lower limb spasticity, Poor head control, Ataxia, Abnormal morphology of musculature of pharynx, ... |
ORPHA:280210 |
Ventilator-Induced Diaphragmatic Dysfunction |
|
Hypercapnia, Respiratory insufficiency due to muscle weakness, Reduced forced vital capacity, Dia... |
ORPHA:505395 |
Retinal Dystrophy And Iris Coloboma With Or Without Cataract |
|
Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract |
OMIM:616722 |
Retinitis Pigmentosa 9 |
|
Cataract |
OMIM:180104 |
Arnold-Chiari Malformation Type I |
|
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... |
ORPHA:268882 |
Dk1-Cdg |
|
Progressive muscle weakness |
ORPHA:91131 |
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome |
|
Cataract |
OMIM:610156 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Apnea, Clonus, Flexion contracture, Optic atrophy,... |
OMIM:617301 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Pneumocystosis |
|
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... |
ORPHA:723 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract |
ORPHA:1373 |
Tbck-Related Intellectual Disability Syndrome |
|
Skeletal muscle atrophy, Diastasis recti, Progressive muscle weakness, Asthma, Respiratory insuff... |
ORPHA:488632 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Respiratory distress, Ataxia, Respiratory insufficiency due to muscle weakness, Optic atrophy, Op... |
OMIM:220110 |
Asbestos Intoxication |
|
Reduced vital capacity, Reduced forced vital capacity, Nonproductive cough, Dyspnea, Wheezing, La... |
ORPHA:2302 |
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly |
|
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Cerebral atrophy, Opisthotonus, Respi... |
OMIM:619847 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Rhabdomyolysis, Muscle weakness, Periodic paralysis |
OMIM:188580 |
Mitochondrial Trifunctional Protein Deficiency |
|
Progressive distal muscle weakness, Rhabdomyolysis, Generalized muscle weakness, Babinski sign, R... |
ORPHA:746 |
Polyglucosan Body Neuropathy, Adult Form |
|
Peripheral axonal neuropathy, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal... |
OMIM:263570 |
Cahmr Syndrome |
|
Lamellar cataract |
OMIM:211770 |
3-Methylglutaconic Aciduria Type 7 |
|
Cerebellar atrophy, Pneumothorax, Abnormal pyramidal sign, Cerebral atrophy, Opisthotonus, Choreo... |
ORPHA:445038 |
Leber Congenital Amaurosis 16 |
|
Cataract |
OMIM:614186 |
Paramyotonia Congenita Of Von Eulenburg |
|
Periodic hypokalemic paresis, Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormaliti... |
ORPHA:684 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Respir... |
ORPHA:258 |
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1 |
|
Caudate atrophy, Babinski sign, Cerebral atrophy, Axonal loss, Myoclonus, Apraxia, Abnormal upper... |
OMIM:221770 |
Ciliary Dyskinesia, Primary, 5 |
|
Neonatal respiratory distress, Recurrent pneumonia, Bronchiectasis, Respiratory failure, Respirat... |
OMIM:608647 |
Interstitial Pneumonitis, Desquamative, Familial |
|
Respiratory distress, Respiratory failure, Tachypnea, Cough |
OMIM:263000 |
Neutral Lipid Storage Myopathy |
|
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... |
ORPHA:98908 |
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... |
ORPHA:79240 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Posterior embryotoxon, Cataract, Corneal opacity, Iris coloboma |
ORPHA:1473 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Respiratory distress, Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, General... |
OMIM:620278 |
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma |
|
Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea |
OMIM:251750 |
Spastic Paraplegia 9A, Autosomal Dominant |
|
Lower limb spasticity, Resting tremor, Distal muscle weakness, Corpus callosum atrophy, Hoffmann ... |
OMIM:601162 |
Avian Influenza |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... |
ORPHA:454836 |
Pseudohypoaldosteronism Type 2 |
|
Muscle weakness, Periodic paralysis |
ORPHA:757 |
X-Linked Immunoneurologic Disorder |
|
Cataract |
ORPHA:2571 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Usher Syndrome Type 3 |
|
Cataract, Astigmatism, Iris hypopigmentation |
ORPHA:231183 |
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Respiratory distress, Skeletal muscle atrophy, Decreased number of peripheral myelinated nerve fi... |
OMIM:256810 |
Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
Tick-Borne Encephalitis |
|
Speech apraxia, Skeletal muscle atrophy, Incoordination, Facial palsy, Paralysis, Tremor, Ophthal... |
ORPHA:297 |
Leigh Syndrome |
|
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Ataxia, Ophthalmop... |
ORPHA:506 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ataxia, Progressive proximal muscle weakness, Central nervous system degeneration, Myopathy, Shou... |
ORPHA:98907 |
Hyperkalemic Periodic Paralysis |
|
Episodic flaccid weakness, Periodic hyperkalemic paralysis |
OMIM:170500 |
Glioblastoma |
|
Muscle weakness, Paralysis |
ORPHA:360 |
Cardiomyopathy, Dilated, 1Ii |
|
Cataract |
OMIM:615184 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Hypoventilation, Cerebellar atrophy, Decreased number ... |
ORPHA:99949 |
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset |
|
Respiratory distress, Respiratory failure requiring assisted ventilation, Facial hypotonia, Proxi... |
ORPHA:308552 |
Inhalational Botulism |
|
Dyspnea, Muscle weakness, Paralysis |
ORPHA:254504 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Respiratory insufficiency due to muscl... |
ORPHA:98853 |
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome |
|
Cerebellar atrophy, Spastic ataxia, Peripheral axonal neuropathy, Spinal muscular atrophy, Spasti... |
ORPHA:496756 |
Central Hypoventilation Syndrome, Congenital, 3 |
|
Respiratory failure, Apnea, Central hypoventilation |
OMIM:619483 |
Alg1-Cdg |
|
Cerebellar atrophy, Respiratory failure, Cerebral atrophy |
ORPHA:79327 |
Hepatic Veno-Occlusive Disease |
|
Respiratory failure |
ORPHA:890 |
Cataract-Intellectual Disability-Anal Atresia-Urinary Defects Syndrome |
|
Aplasia/Hypoplasia of the lens, Cataract |
ORPHA:1381 |
Thyrotoxic Periodic Paralysis |
|
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Ophthalmoparesi... |
ORPHA:79102 |
Staphylococcal Necrotizing Pneumonia |
|
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... |
ORPHA:36238 |
Combined Oxidative Phosphorylation Deficiency 37 |
|
Cerebellar atrophy, Poor head control, Optic atrophy, Respiratory insufficiency, Respiratory fail... |
OMIM:618329 |
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome |
|
Absent brainstem auditory responses, Diffuse cerebral atrophy, Head titubation, Spastic tetrapleg... |
ORPHA:3240 |
Galactose Mutarotase Deficiency |
|
Cataract |
ORPHA:570422 |
Retinitis Pigmentosa 84 |
|
Cataract |
OMIM:618220 |
Anaplastic Thyroid Carcinoma |
|
Respiratory distress, Dyspnea, Vocal cord paralysis, Upper airway obstruction, Abnormal skeletal ... |
ORPHA:142 |
Arthrogryposis Multiplex Congenita 6 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Nemaline bodies, Arthrogrypo... |
OMIM:619334 |
Blindness-Scoliosis-Arachnodactyly Syndrome |
|
Cataract, Lens subluxation, Microphakia |
ORPHA:171844 |
Surfactant Metabolism Dysfunction, Pulmonary, 2 |
|
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... |
OMIM:610913 |
Mercury Poisoning |
|
Respiratory distress, Tremor, Dyspnea, Generalized muscle weakness, Respiratory failure, Intersti... |
ORPHA:330021 |
Multiple Acyl-Coa Dehydrogenase Deficiency |
|
Skeletal muscle atrophy, Scapular winging, Poor head control, Proximal muscle weakness, Dyspnea, ... |
ORPHA:26791 |
Metatropic Dysplasia |
|
Peripheral axonal neuropathy, Flexion contracture, Respiratory insufficiency, Respiratory failure... |
OMIM:156530 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Cerebellar atrophy, Optic disc pallor, Skeletal muscle atrophy, Poor head control, Apnea, Ataxia,... |
OMIM:252010 |
Weill-Marchesani Syndrome 4 |
|
Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb... |
OMIM:613195 |
Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
Stickler Syndrome, Type V |
|
Cataract |
OMIM:614284 |
Combined Oxidative Phosphorylation Deficiency 3 |
|
Ataxia, Optic neuropathy, Tremor, Dyspnea, Rhabdomyolysis, Optic atrophy, Respiratory insufficien... |
OMIM:610505 |
Dermatitis, Atopic |
|
Keratoconus, Cataract, Conjunctivitis |
OMIM:603165 |
X-Linked Adrenoleukodystrophy |
|
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... |
ORPHA:43 |
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency |
|
Skeletal muscle atrophy, Progressive muscle weakness, Increased sarcoplasmic glycogen |
ORPHA:264580 |
Coloboma, Ocular, Autosomal Recessive |
|
Iris coloboma, Cataract, Lens subluxation |
OMIM:216820 |
Oculocerebrofacial Syndrome, Kaufman Type |
|
Respiratory distress, Dyspnea, Optic atrophy, Respiratory failure, Muscle flaccidity |
ORPHA:2707 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
|
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... |
OMIM:168000 |
Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Poor head control, Facial palsy, Clonus, Optic atrophy, Spastic tetraplegia, C... |
OMIM:259720 |
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy |
|
Camptodactyly of finger, Respiratory failure, Flexion contracture, Cerebral cortical atrophy |
ORPHA:1194 |
Lethal Congenital Contracture Syndrome 2 |
|
Skeletal muscle atrophy, Respiratory failure, Arthrogryposis multiplex congenita |
OMIM:607598 |
Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract |
ORPHA:1069 |
Achromatopsia 3 |
|
Cataract |
OMIM:262300 |
Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
Cataracts, Spastic Paraparesis, And Speech Delay |
|
Cataract |
OMIM:619338 |
Mitochondrial Trifunctional Protein Deficiency 1 |
|
Rhabdomyolysis, Generalized muscle weakness, Respiratory insufficiency, Myopathy, Respiratory fai... |
OMIM:609015 |
Combined Oxidative Phosphorylation Deficiency 11 |
|
Myopathy, Respiratory failure, Tongue fasciculations, Myoclonus, Cerebral cortical atrophy |
OMIM:614922 |
Kanzaki Disease |
|
Distal muscle weakness, Peripheral axonal neuropathy, Axonal degeneration, Cerebral atrophy |
OMIM:609242 |
Acute Lung Injury |
|
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:178320 |
Acute Interstitial Pneumonia |
|
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Deficiency 4 |
|
Respiratory failure, Spasticity, Opisthotonus |
OMIM:610678 |
Morning Glory Disc Anomaly |
|
Cataract |
ORPHA:35737 |
Infant Acute Respiratory Distress Syndrome |
|
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure |
ORPHA:70587 |
Non-Functioning Paraganglioma |
|
Paraganglioma of head and neck, Tremor, Cranial nerve compression, Vocal cord paralysis, Paragang... |
ORPHA:94080 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
|
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... |
OMIM:605373 |
Combined Oxidative Phosphorylation Deficiency 52 |
|
Respiratory failure |
OMIM:619386 |
Adult Acute Respiratory Distress Syndrome |
|
Pneumonia, Dyspnea, Hypoxemia, Respiratory failure, Abnormal blood gas level |
ORPHA:70578 |
Weill-Marchesani Syndrome |
|
Cataract, Ectopia lentis |
ORPHA:3449 |
Brain-Lung-Thyroid Syndrome |
|
Respiratory distress, Neonatal respiratory distress, Incoordination, Ataxia, Involuntary movement... |
ORPHA:209905 |
Steinert Myotonic Dystrophy |
|
Skeletal muscle atrophy, Neck flexor weakness, Foot dorsiflexor weakness, Abnormality of the tong... |
ORPHA:273 |
Combined Oxidative Phosphorylation Defect Type 23 |
|
Stridor, Respiratory failure, Paroxysmal dyspnea, Left ventricular hypertrophy, Right ventricular... |
ORPHA:444013 |
Genetic Hyperferritinemia Without Iron Overload |
|
Cataract |
ORPHA:254704 |
Porphyria, Acute Intermittent |
|
Respiratory paralysis, Muscle weakness, Paralysis |
OMIM:176000 |
Immunodeficiency 54 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:609981 |
Woolly Hair |
|
Abnormal pupil morphology, Cataract |
ORPHA:170 |
Laryngeal Abductor Paralysis |
|
Stridor, Vocal cord paralysis |
OMIM:150260 |
Thoracic Dysplasia-Hydrocephalus Syndrome |
|
Respiratory failure, Ataxia |
ORPHA:1861 |
Scedosporiosis |
|
Bronchial breath sound, Sinusitis, Pneumonia, Abnormal respiratory system physiology, Respiratory... |
ORPHA:449280 |
Idiopathic Pulmonary Hemosiderosis |
|
Crackles, Dyspnea, Restrictive ventilatory defect, Respiratory failure, Cough |
ORPHA:99931 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, D... |
OMIM:610921 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, Spasticity, Cerebral... |
ORPHA:500144 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Cataract |
ORPHA:1366 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure |
ORPHA:2759 |
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy |
|
Buphthalmos, Cataract, Iris coloboma, Corneal scarring |
OMIM:212550 |
Peripartum Cardiomyopathy |
|
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Left ventricular h... |
ORPHA:563 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Respiratory failure, Muscular dystrophy, Poor hea... |
OMIM:616538 |
Norrie Disease |
|
Cataract, Corneal opacity, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior cham... |
OMIM:310600 |
S-Adenosylhomocysteine Hydrolase Deficiency |
|
Muscle weakness, Respiratory failure, Muscular dystrophy, Poor head control |
ORPHA:88618 |
Autoinflammation With Pulmonary And Cutaneous Vasculitis |
|
Restrictive ventilatory defect, Respiratory failure, Interstitial pneumonitis |
OMIM:620296 |
Surfactant Metabolism Dysfunction, Pulmonary, 1 |
|
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... |
OMIM:265120 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology, Paralysis |
ORPHA:83601 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Cerebral atrophy, Tetraplegia, Hemiparesis, Subcortical cerebral atrophy, Hy... |
ORPHA:2396 |
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome |
|
Type 2 muscle fiber atrophy, Pulmonary arterial hypertension, Respiratory failure, Respiratory in... |
OMIM:613845 |
Primary Ciliary Dyskinesia |
|
Neonatal respiratory distress, Productive cough, Wheezing, Bronchiectasis, Respiratory failure, C... |
ORPHA:244 |
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome |
|
Cataract |
OMIM:601794 |
Niemann-Pick Disease Type C |
|
Speech apraxia, Lower limb spasticity, Ataxia, Tremor, Chorea, Aplasia/Hypoplasia of the abdomina... |
ORPHA:646 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Cerebellar atrophy, Hypoventilation, Ataxia, Paralysis, Cerebral cortical neurodegeneration, Cere... |
OMIM:203700 |
Hereditary Leiomyomatosis And Renal Cell Cancer |
|
Cataract |
ORPHA:523 |
Joubert Syndrome 21 |
|
Apnea, Ataxia, Dyspnea, Optic atrophy, Megalopapilla, Respiratory failure, Oculomotor apraxia, Ch... |
OMIM:615636 |
Niemann-Pick Disease, Type C2 |
|
Neonatal respiratory distress, Ataxia, Respiratory insufficiency, Respiratory failure, Cataplexy,... |
OMIM:607625 |
Sandestig-Stefanova Syndrome |
|
Respiratory failure, Camptodactyly |
OMIM:618804 |
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Microcornea, Buphthalmos, Shallow anterior chamber, Poster... |
OMIM:221900 |
Vacterl Association With Hydrocephalus |
|
Respiratory failure, Respiratory insufficiency |
OMIM:276950 |
Leprosy |
|
Skeletal muscle atrophy, Epistaxis, Abnormality of the seventh cranial nerve, Abnormal autonomic ... |
ORPHA:548 |
Glossopharyngeal Neuralgia |
|
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Vocal cord paralysis, Schw... |
ORPHA:221098 |
Nephronophthisis 2 |
|
Respiratory failure, Respiratory insufficiency |
OMIM:602088 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Generalized muscle weakness, Rhabdomyolysis, Muscle weakness |
OMIM:263800 |
Lethal Congenital Contracture Syndrome 1 |
|
Paucity of anterior horn motor neurons, Skeletal muscle atrophy, Arthrogryposis multiplex congeni... |
OMIM:253310 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Periodic paralysis |
OMIM:613239 |
Pulmonary Alveolar Microlithiasis |
|
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... |
ORPHA:60025 |
Ifap Syndrome 2 |
|
Keratitis, Keratoconjunctivitis sicca, Cataract |
OMIM:619016 |
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal |
|
Neonatal respiratory distress, Apnea, Increased muscle lipid content, Elbow flexion contracture, ... |
OMIM:608836 |
3-Methylglutaconic Aciduria, Type Viii |
|
Apnea, Clonus, Tremor, Cerebral atrophy, Hypopnea, Respiratory failure, Hypertonia, Respiratory a... |
OMIM:617248 |
Fibrodysplasia Ossificans Progressiva |
|
Respiratory failure, Respiratory insufficiency |
OMIM:135100 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis |
OMIM:145260 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:276621 |
Andersen-Tawil Syndrome |
|
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... |
ORPHA:37553 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Respiratory distress, Respiratory failure |
OMIM:617895 |
Chromosome 16Q12 Duplication Syndrome |
|
Anisocoria, Cataract |
OMIM:619649 |
Mitochondrial Complex I Deficiency, Nuclear Type 32 |
|
Skeletal muscle atrophy, Respiratory failure, Cerebral atrophy |
OMIM:618252 |
Lambert-Eaton Myasthenic Syndrome |
|
Progressive proximal muscle weakness, Abnormal autonomic nervous system physiology, Orthostatic h... |
ORPHA:43393 |
Alport Syndrome 2, Autosomal Recessive |
|
Corneal erosion, Cataract, Anterior lenticonus |
OMIM:203780 |
Car T Cell Therapy-Associated Cytokine Release Syndrome |
|
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure |
ORPHA:542323 |
Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Ectopia lentis, Corneal erosion, Hypoplasia of the iris,... |
OMIM:106210 |
Autoinflammation, Antibody Deficiency, And Immune Dysregulation |
|
Corneal erosion, Cataract |
OMIM:614878 |
Hypoparathyroidism, Familial Isolated, 1 |
|
Cataract |
OMIM:146200 |
Riddle Syndrome |
|
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Clumsiness, Restrictive ventilatory de... |
ORPHA:420741 |
Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Iris atrophy, Cataract, Anisocoria, Posterior synechiae of t... |
ORPHA:263479 |
Deafness-Lymphedema-Leukemia Syndrome |
|
Respiratory failure |
ORPHA:3226 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Diastasis recti, Flexion contracture, Macroglossia, Respiratory failure, Camptodactyly, Flexion c... |
ORPHA:254528 |
Abetalipoproteinemia |
|
Ataxia, Ophthalmoplegia, Babinski sign, Dysmetria, Gait ataxia, Myopathy, Respiratory failure, Di... |
ORPHA:14 |
Renal Tubular Acidosis Iii |
|
Periodic paralysis |
OMIM:267200 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Respiratory distress, Pulmonary arterial hypertension, Respiratory failure, Central apnea |
OMIM:616482 |
Boutonneuse Fever |
|
Respiratory failure |
ORPHA:83313 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
|
Cerebellar atrophy, Lower limb spasticity, Poor head control, Apnea, Ataxia, Vocal cord paralysis... |
OMIM:617799 |
Congenital Tricuspid Valve Dysplasia |
|
Respiratory failure requiring assisted ventilation, Tachypnea, Hypoxemia, Respiratory failure, Ri... |
ORPHA:555874 |
Rift Valley Fever |
|
Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity, Muscle weakness |
ORPHA:319251 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2 |
|
Hip contracture, Lower limb spasticity, Flexion contracture, Elbow flexion contracture, Knee flex... |
OMIM:300868 |
Exudative Vitreoretinopathy 6 |
|
Nuclear cataract, Cataract, Cortical cataract |
OMIM:616468 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Paralysis |
OMIM:242100 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Tachypnea, Respiratory insufficiency, Tetraplegia, Respiratory failure, Myoclonus, Brain atrophy |
OMIM:618278 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Spontaneous, recurrent epistaxis, Paralysis, Ophthalmoplegia, Spastic paraplegia, Li... |
ORPHA:2072 |
Radio-Renal Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Chylothorax, Pleural effusion |
ORPHA:3015 |
Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
Malignant Atrophic Papulosis |
|
Muscle flaccidity, Pleural effusion, Respiratory failure |
ORPHA:679 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Tremor, Cranial nerve compression,... |
ORPHA:29072 |
Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Developmental cataract, Microcornea, Iris cyst, Posterior synechiae of th... |
OMIM:612109 |
Enhanced S-Cone Syndrome |
|
Cataract |
OMIM:268100 |
Pineoblastoma |
|
Papilledema, Paralysis |
ORPHA:251909 |
Distal Renal Tubular Acidosis |
|
Respiratory insufficiency due to muscle weakness, Muscle weakness, Paralysis |
ORPHA:18 |
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs |
|
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... |
OMIM:601552 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression |
OMIM:259730 |
Listeriosis |
|
Respiratory distress, Ataxia, Pneumonia, Tremor, Rhabdomyolysis, Hemiparesis, Respiratory failure... |
ORPHA:533 |
Peroxisome Biogenesis Disorder 4A (Zellweger) |
|
Respiratory failure |
OMIM:614862 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis |
OMIM:170390 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Involuntary movements, Paralysis, Tremor, Myelopath... |
ORPHA:3385 |
Nijmegen Breakage Syndrome |
|
Skeletal muscle atrophy, Rhabdomyosarcoma, Recurrent pneumonia, Respiratory failure, Muscle weakness |
ORPHA:647 |
Arterial Tortuosity Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Cardiorespiratory arrest |
ORPHA:3342 |
Geleophysic Dysplasia 3 |
|
Dyspnea, Respiratory failure, Pneumonia |
OMIM:617809 |
Costello Syndrome |
|
Rhabdomyosarcoma, Achilles tendon contracture, Pneumothorax, Respiratory insufficiency, Cerebral ... |
OMIM:218040 |
Hemorrhagic Fever-Renal Syndrome |
|
Respiratory distress, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleural effusion... |
ORPHA:340 |
Lethal Acantholytic Erosive Disorder |
|
Camptodactyly of toe, Respiratory failure |
ORPHA:158687 |
Gitelman Syndrome |
|
Respiratory distress, Rhabdomyolysis, Muscle weakness, Paralysis |
ORPHA:358 |
Nocardiosis |
|
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Pneumothorax, Pl... |
ORPHA:31204 |
Mucopolysaccharidosis Type 3 |
|
Vocal cord paresis, Ataxia, Flexion contracture, Optic atrophy, Upper airway obstruction, Abnorma... |
ORPHA:581 |
Rajab Interstitial Lung Disease With Brain Calcifications 1 |
|
Tachypnea, Respiratory insufficiency, Cerebral atrophy, Respiratory failure, Cough, Emphysema |
OMIM:613658 |
Myhre Syndrome |
|
Ataxia, Generalized muscle hypertrophy, Respiratory insufficiency, Skeletal muscle hypertrophy, R... |
OMIM:139210 |
Bloom Syndrome |
|
Rhinitis, Chronic pulmonary obstruction, Pneumonia, Respiratory failure |
ORPHA:125 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
|
Bilateral vocal cord paresis, Neonatal respiratory distress, Apnea, Flexion contracture, Stridor,... |
OMIM:614653 |
Ear-Patella-Short Stature Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Camptodactyly of finger |
ORPHA:2554 |
Tuberous Sclerosis Complex |
|
Respiratory distress, Pancreatic endocrine tumor, Respiratory failure, Pheochromocytoma, Carcinoi... |
ORPHA:805 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Interphalangeal joint contracture of finger, Diastasis recti, Flexion contracture, Spinal dysraph... |
ORPHA:96334 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Flexion contracture of the 2nd finger, Unilateral vocal cord paralysis, Optic atrophy, Joint cont... |
ORPHA:324540 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Unilateral vocal cord paresis, Tethered cord, Spinal dysraphism |
OMIM:617660 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Optic nerve hypoplasia, Optic atrophy, Spasticity, Respiratory failure, Emphysema, Global brain a... |
ORPHA:500150 |
Severe Generalized Junctional Epidermolysis Bullosa |
|
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Stridor, Respiratory failure |
ORPHA:79404 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Respiratory distress, Dyspnea, Respiratory failure, Congenital diaphragmatic hernia |
ORPHA:2556 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Rigidity, Dyspnea, Respiratory failure, Hypertonia, Spasticity |
ORPHA:2636 |
Esophageal Atresia |
|
Respiratory distress, Vocal cord paresis, Episodic respiratory distress, Chronic pulmonary obstru... |
ORPHA:1199 |
Fraser Syndrome 2 |
|
Respiratory failure |
OMIM:617666 |
Schinzel-Giedion Syndrome |
|
Respiratory distress, Aganglionic megacolon, Recurrent pneumonia, Vocal cord paralysis, Macroglos... |
ORPHA:798 |
Van Esch-O'Driscoll Syndrome |
|
Cerebellar atrophy, Unilateral vocal cord paralysis, Cerebral atrophy, Spasticity, Spina bifida o... |
OMIM:301030 |
Autosomal Recessive Polycystic Kidney Disease |
|
Hypoventilation, Respiratory failure, Recurrent pneumonia, Spontaneous pneumothorax |
ORPHA:731 |
Tsh-Secreting Pituitary Adenoma |
|
Oculomotor nerve palsy, Internal ophthalmoplegia, Periodic hypokalemic paresis, Tremor |
ORPHA:91347 |
Tyrosinemia, Type I |
|
Periodic paralysis |
OMIM:276700 |
Otopalatodigital Syndrome, Type Ii |
|
Respiratory failure, Respiratory insufficiency, Elbow contracture, Spina bifida |
OMIM:304120 |
Degcags Syndrome |
|
Diaphragmatic eventration, Pneumonia, Asthma, Vocal cord paralysis, Rhinitis, Tracheomalacia, Pul... |
OMIM:619488 |
Igg4-Related Thyroid Disease |
|
Vocal cord paralysis |
ORPHA:64744 |
Ulbright-Hodes Syndrome |
|
Respiratory distress, Respiratory failure, Pneumothorax |
ORPHA:3404 |
Codas Syndrome |
|
Vocal cord paresis |
OMIM:600373 |
Feingold Syndrome 1 |
|
Vocal cord paralysis |
OMIM:164280 |
Williams-Beuren Syndrome |
|
Poor coordination, Flexion contracture, Vocal cord paralysis, Incoordination |
OMIM:194050 |
Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity |
ORPHA:2323 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
|
OMIM:241410 |
Kenny-Caffey Syndrome, Type 1 |
|
|
OMIM:244460 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
|
ORPHA:93324 |