Exercise Intolerance, Riboflavin-Responsive |
|
Ragged-red muscle fibers |
OMIM:616839 |
Spinal Muscular Atrophy, Type Iv |
|
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... |
OMIM:271150 |
Polyglucosan Body Myopathy 2 |
|
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... |
OMIM:616199 |
Myopathy, Sarcoplasmic Body |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... |
OMIM:620286 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:619733 |
Tubular Aggregate Myopathy |
|
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... |
ORPHA:2593 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3 |
|
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... |
OMIM:615424 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant |
|
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... |
OMIM:158600 |
Myopathy, Distal, 7, Adult-Onset, X-Linked |
|
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... |
OMIM:301075 |
Rhabdomyolysis, Susceptibility To, 1 |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... |
OMIM:620235 |
Myopathy, Distal, With Rimmed Vacuoles |
|
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... |
OMIM:617158 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... |
OMIM:608423 |
Inclusion Body Myositis |
|
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... |
ORPHA:611 |
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617760 |
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia |
|
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... |
OMIM:117000 |
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... |
OMIM:601846 |
Myopathy, Distal, Tateyama Type |
|
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... |
OMIM:614321 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8 |
|
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... |
OMIM:254110 |
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant |
|
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... |
OMIM:618655 |
Nonaka Myopathy |
|
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... |
OMIM:605820 |
Tibial Muscular Dystrophy |
|
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... |
ORPHA:609 |
Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... |
OMIM:616228 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4 |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... |
OMIM:618129 |
Myopathy, Centronuclear, 4 |
|
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers |
OMIM:614807 |
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss |
|
Tremor, Distal amyotrophy, Fiber type grouping |
OMIM:614369 |
Myopathy, Distal, 5 |
|
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... |
OMIM:617030 |
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type |
|
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... |
OMIM:181400 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15 |
|
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers |
OMIM:618992 |
Welander Distal Myopathy |
|
Distal amyotrophy, Rimmed vacuoles |
OMIM:604454 |
Muscular Dystrophy, Limb-Girdle, Type 1H |
|
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... |
OMIM:613530 |
Myopathy, Scapulohumeroperoneal |
|
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... |
OMIM:616852 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission,... |
ORPHA:353327 |
Congenital Myopathy 18 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... |
OMIM:620246 |
Myofibrillar Myopathy 11 |
|
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... |
OMIM:619178 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26 |
|
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... |
OMIM:618848 |
Myopathy, Centronuclear, 1 |
|
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... |
OMIM:160150 |
Myopathy, Vacuolar, With Casq1 Aggregates |
|
Muscle fiber calsequestrin 1-containing inclusion bodies |
OMIM:616231 |
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant |
|
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... |
OMIM:612999 |
Congenital Myopathy 9B, Proximal, With Minicore Lesions |
|
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... |
OMIM:618823 |
Congenital Myopathy 20 |
|
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... |
OMIM:620310 |
Gne Myopathy |
|
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... |
ORPHA:602 |
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant |
|
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... |
OMIM:608358 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3 |
|
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... |
OMIM:609115 |
Myasthenic Syndrome, Congenital, 17 |
|
Type 1 muscle fiber predominance |
OMIM:616304 |
Arthrogryposis Multiplex Congenita 3, Myogenic Type |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... |
OMIM:618484 |
Lethal Congenital Contracture Syndrome 3 |
|
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... |
OMIM:611369 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7 |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... |
OMIM:601954 |
Myopathy, Myofibrillar, 5 |
|
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting |
OMIM:609524 |
Sandhoff Disease, Adult Form |
|
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... |
ORPHA:309169 |
Spastic Paraplegia 18B, Autosomal Recessive |
|
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... |
OMIM:611225 |
Myopathy, Isolated Mitochondrial, Autosomal Dominant |
|
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy |
OMIM:616209 |
Hereditary Myopathy With Early Respiratory Failure |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... |
ORPHA:178464 |
Facioscapulohumeral Muscular Dystrophy 3, Digenic |
|
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... |
OMIM:619477 |
Inclusion Body Myositis |
|
Inflammatory myopathy, Rimmed vacuoles |
OMIM:147421 |
Marinesco-Sjogren Syndrome |
|
Skeletal muscle atrophy, Short metacarpal, Ataxia, Elevated circulating creatine kinase concentra... |
OMIM:248800 |
Distal Myopathy With Anterior Tibial Onset |
|
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... |
ORPHA:178400 |
Muscular Dystrophy, Congenital, Davignon-Chauveau Type |
|
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... |
OMIM:617066 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... |
OMIM:620068 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14 |
|
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... |
OMIM:607641 |
Myopathy, Myofibrillar, 8 |
|
Scapular winging, Frequent falls, Elevated circulating creatine kinase concentration, Centrally n... |
OMIM:617258 |
Mitochondrial Myopathy With Diabetes |
|
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... |
OMIM:500002 |
Pomt1-Related Limb-Girdle Muscular Dystrophy R11 |
|
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... |
ORPHA:86812 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... |
OMIM:611705 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:608634 |
Oculopharyngodistal Myopathy 2 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... |
OMIM:618940 |
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures |
|
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... |
OMIM:617072 |
Myopathy, Centronuclear, 2 |
|
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... |
OMIM:255200 |
Distal Myopathy, Welander Type |
|
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... |
ORPHA:603 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2 |
|
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... |
OMIM:615422 |
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome |
|
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... |
ORPHA:486815 |
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency |
|
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... |
OMIM:613204 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2 |
|
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis |
OMIM:158590 |
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset |
|
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... |
OMIM:300717 |
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance |
|
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... |
ORPHA:457050 |
Myopathy, Myofibrillar, 3 |
|
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... |
OMIM:609200 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh |
|
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... |
OMIM:619574 |
Proximal Myopathy With Extrapyramidal Signs |
|
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... |
ORPHA:401768 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... |
OMIM:255320 |
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive |
|
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating c... |
OMIM:255160 |
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive |
|
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... |
OMIM:620265 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... |
OMIM:605285 |
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1 |
|
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... |
ORPHA:34516 |
Congenital Muscular Dystrophy, Ullrich Type |
|
Elevated circulating creatine kinase concentration, Short neck, Flexion contracture, Knee flexion... |
ORPHA:75840 |
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A |
|
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... |
ORPHA:266 |
Spinal Muscular Atrophy, Infantile, James Type |
|
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... |
OMIM:619042 |
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... |
OMIM:620138 |
Congenital Myopathy 3 With Rigid Spine |
|
Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion contracture, I... |
OMIM:602771 |
Lower Motor Neuron Syndrome With Late-Adult Onset |
|
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... |
ORPHA:276435 |
Myopathy, Autophagic Vacuolar, Infantile-Onset |
|
Myopathy, Autophagic vacuoles |
OMIM:609500 |
Infantile-Onset X-Linked Spinal Muscular Atrophy |
|
Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal... |
ORPHA:1145 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Limb joint contracture, Facial palsy, Lumbar hyperlordosis, Centrally... |
OMIM:255310 |
Lethal Congenital Contracture Syndrome 8 |
|
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal a... |
OMIM:616287 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:226735 |
X-Linked Centronuclear Myopathy |
|
Recurrent respiratory infections, Pneumonia, Weakness of facial musculature, Centrally nucleated ... |
ORPHA:596 |
Oculopharyngeal Muscular Dystrophy |
|
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology |
ORPHA:270 |
King-Denborough Syndrome |
|
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Central... |
OMIM:619542 |
Benign Samaritan Congenital Myopathy |
|
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers |
ORPHA:324581 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7 |
|
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis |
OMIM:158580 |
Congenital Myopathy 10A, Severe Variant |
|
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity, Pectus excavatum... |
OMIM:614399 |
Autosomal Recessive Centronuclear Myopathy |
|
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... |
ORPHA:169186 |
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12 |
|
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... |
ORPHA:206549 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3 |
|
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... |
OMIM:608099 |
Congenital Myopathy 22A, Classic |
|
Thoracic scoliosis, Dental crowding, Ragged-red muscle fibers, High palate, Generalized amyotroph... |
OMIM:620351 |
Dystonia 31 |
|
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... |
OMIM:619565 |
Cardiomyopathy, Dilated, 3B |
|
Increased variability in muscle fiber diameter |
OMIM:302045 |
Myasthenic Syndrome, Congenital, 13 |
|
Muscle fiber tubular inclusions |
OMIM:614750 |
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1 |
|
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... |
OMIM:167320 |
Bethlem Myopathy 2 |
|
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... |
OMIM:616471 |
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset |
|
Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl... |
OMIM:300718 |
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset |
|
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... |
OMIM:620386 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8 |
|
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... |
OMIM:600175 |
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome |
|
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormal rib morpho... |
ORPHA:3268 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... |
ORPHA:98913 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25 |
|
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... |
OMIM:616812 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant |
|
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Elevated circu... |
OMIM:615290 |
Miyoshi Muscular Dystrophy 1 |
|
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... |
OMIM:254130 |
Myasthenic Syndrome, Congenital, 5 |
|
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Prolonged miniature endplate currents... |
OMIM:603034 |
Moderate Multiminicore Disease With Hand Involvement |
|
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance |
ORPHA:178145 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy |
OMIM:609283 |
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type) |
|
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus, Paralysis |
OMIM:613710 |
Tibial Muscular Dystrophy, Tardive |
|
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles |
OMIM:600334 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2 |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... |
OMIM:253601 |
Alpha-B Crystallin-Related Late-Onset Myopathy |
|
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... |
ORPHA:399058 |
Nemaline Myopathy 2 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... |
OMIM:256030 |
Plectin-Related Limb-Girdle Muscular Dystrophy R17 |
|
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Elevated circulating creatine kina... |
ORPHA:254361 |
Myopathy, Distal, 1 |
|
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, El... |
OMIM:160500 |
Nemaline Myopathy 6 |
|
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy |
OMIM:609273 |
Trim32-Related Limb-Girdle Muscular Dystrophy R8 |
|
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter |
ORPHA:1878 |
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries |
|
Central core regions in muscle fibers, Muscular dystrophy |
OMIM:159050 |
Congenital Muscular Dystrophy With Intellectual Disability |
|
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... |
ORPHA:370968 |
Lethal Congenital Contracture Syndrome 7 |
|
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis |
OMIM:616286 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10 |
|
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... |
OMIM:608807 |
Charcot-Marie-Tooth Disease, Recessive Intermediate A |
|
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... |
OMIM:608340 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Type 2 muscle fiber atrophy, High palate, Scoliosis, Weakness of facial musculature... |
OMIM:608930 |
Myopathy, X-Linked, With Postural Muscle Atrophy |
|
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... |
OMIM:300696 |
Zebra Body Myopathy |
|
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... |
ORPHA:97240 |
Cardiomyopathy, Dilated, 1X |
|
Calf muscle hypertrophy, Increased variability in muscle fiber diameter |
OMIM:611615 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature |
OMIM:617069 |
Distal Myopathy, Tateyama Type |
|
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... |
ORPHA:488650 |
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 |
Metatropic Dysplasia |
|
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... |
OMIM:156530 |
Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... |
OMIM:619790 |
Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... |
ORPHA:169189 |
Merrf |
|
Myopathy, Ragged-red muscle fibers |
ORPHA:551 |
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16 |
|
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... |
ORPHA:280333 |
Congenital Myopathy 8 |
|
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... |
OMIM:618654 |
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B |
|
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Talipes equinovarus, Scoliosis... |
OMIM:617087 |
Oculopharyngodistal Myopathy 3 |
|
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... |
OMIM:619473 |
Congenital Myopathy 14 |
|
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Increased vari... |
OMIM:618414 |
Myopathy, Centronuclear, 5 |
|
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers |
OMIM:615959 |
Parastremmatic Dwarfism |
|
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis |
OMIM:168400 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... |
OMIM:616313 |
Myopathy, Tubular Aggregate, 1 |
|
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... |
OMIM:160565 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death, Congenital diaphragmatic hernia |
OMIM:306950 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... |
OMIM:607684 |
Fetal Akinesia Deformation Sequence 4 |
|
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, High palate,... |
OMIM:618393 |
Hypokalemic Periodic Paralysis |
|
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas... |
ORPHA:681 |
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s... |
OMIM:607706 |
Myotubular Myopathy With Abnormal Genital Development |
|
Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, Thin ribs, Myopathy, H... |
OMIM:300219 |
Charcot-Marie-Tooth Disease Type 4A |
|
Neuropathic spinal arthropathy, Limited interphalangeal movement, Frequent falls, Hand muscle wea... |
ORPHA:99948 |
Hereditary Continuous Muscle Fiber Activity |
|
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance |
ORPHA:972 |
Lethal Congenital Contracture Syndrome 5 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... |
OMIM:615368 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 4 |
|
Athetosis, Ragged-red muscle fibers, Dystonia |
OMIM:615159 |
Multiminicore Myopathy |
|
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... |
ORPHA:598 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15 |
|
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... |
OMIM:612937 |
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome |
|
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... |
OMIM:619518 |
Myopathy, Distal, 3 |
|
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... |
OMIM:610099 |
Finnish Upper Limb-Onset Distal Myopathy |
|
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... |
ORPHA:399086 |
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc |
|
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... |
OMIM:616924 |
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... |
OMIM:605355 |
Combined Oxidative Phosphorylation Deficiency 6 |
|
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fiber... |
OMIM:300816 |
Typical Nemaline Myopathy |
|
Elevated circulating creatine kinase concentration, Short neck, Fatigable weakness of distal limb... |
ORPHA:171436 |
Isolated Klippel-Feil Syndrome |
|
Congenital muscular torticollis, Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacru... |
ORPHA:2345 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... |
OMIM:619566 |
Myoclonic Epilepsy Associated With Ragged-Red Fibers |
|
Myopathy, Ragged-red muscle fibers |
OMIM:545000 |
Mohr-Tranebjaerg Syndrome |
|
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia |
OMIM:304700 |
Childhood-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, High palate, Narrow chest, Type 1 muscle fib... |
ORPHA:171439 |
Roussy-Lévy Syndrome |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postural tremor, Kyphoscolios... |
ORPHA:3115 |
Congenital Myopathy 23 |
|
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... |
OMIM:609285 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... |
OMIM:605637 |
Arthrogryposis Multiplex Congenita 6 |
|
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... |
OMIM:619334 |
Amyotrophic Lateral Sclerosis 21 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... |
OMIM:606070 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1 |
|
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... |
OMIM:603511 |
Scapuloperoneal Spinal Muscular Atrophy |
|
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... |
OMIM:181405 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, ... |
OMIM:611890 |
Myopathy, Myofibrillar, 9, With Early Respiratory Failure |
|
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... |
OMIM:603689 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 21 |
|
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Dystonia |
OMIM:619065 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Recurrent respiratory infections, Scapular winging, Multiple joint contractures, Elevated circula... |
ORPHA:424107 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ... |
OMIM:601462 |
Nemaline Myopathy 5C, Autosomal Dominant |
|
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... |
OMIM:620389 |
X-Linked Charcot-Marie-Tooth Disease Type 1 |
|
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis, ... |
ORPHA:101075 |
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects |
|
Ataxia, Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Facial myokymia, Narrow... |
OMIM:620007 |
Amyotrophic Lateral Sclerosis 20 |
|
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles |
OMIM:615426 |
Metatropic Dysplasia |
|
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... |
ORPHA:2635 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... |
OMIM:605809 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... |
OMIM:253700 |
Endosteal Hyperostosis, Worth Type |
|
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... |
ORPHA:2790 |
Muscle Filaminopathy |
|
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... |
ORPHA:171445 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Short neck, Vocal cord paralysis, ... |
ORPHA:98863 |
Severe X-Linked Mitochondrial Encephalomyopathy |
|
Skeletal muscle atrophy, Increased variability in muscle fiber diameter |
ORPHA:238329 |
Adult-Onset Nemaline Myopathy |
|
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... |
ORPHA:171442 |
Amish Nemaline Myopathy |
|
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... |
ORPHA:98902 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... |
OMIM:254210 |
Combined Oxidative Phosphorylation Deficiency 8 |
|
Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood |
OMIM:614096 |
Distal Nebulin Myopathy |
|
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... |
ORPHA:399103 |
Nemaline Myopathy 10 |
|
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... |
OMIM:616165 |
Myasthenic Syndrome, Congenital, 12 |
|
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy |
OMIM:610542 |
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive |
|
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... |
OMIM:619903 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... |
OMIM:300580 |
Myasthenic Syndrome, Congenital, 25, Presynaptic |
|
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... |
OMIM:618323 |
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome |
|
Proximal muscle weakness in upper limbs, Tongue atrophy, Lower limb spasticity, Kyphoscoliosis, B... |
ORPHA:496689 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers |
OMIM:617070 |
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita |
|
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, High palate, Scoliosis, Arthrogryp... |
ORPHA:178148 |
Dpm3-Cdg |
|
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness |
ORPHA:263494 |
Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... |
ORPHA:98853 |
Distal Myotilinopathy |
|
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... |
ORPHA:98911 |
Mitochondrial Myopathy, Infantile, Transient |
|
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... |
OMIM:500009 |
Acute Peripheral Arterial Occlusion |
|
Limb muscle weakness, Paralysis |
ORPHA:90064 |
Glycogen Storage Disease Ixd |
|
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... |
OMIM:300559 |
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness |
|
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... |
ORPHA:101097 |
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5 |
|
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Frequent falls, Elevated c... |
ORPHA:353 |
Myopathy, Myofibrillar, 2 |
|
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... |
OMIM:608810 |
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy |
|
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... |
OMIM:300232 |
X-Linked Charcot-Marie-Tooth Disease Type 4 |
|
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis |
ORPHA:101078 |
Central Core Disease |
|
Multiple joint contractures, Congenital hip dislocation, Elevated circulating creatine kinase con... |
ORPHA:597 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7 |
|
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... |
OMIM:616052 |
Ullrich Congenital Muscular Dystrophy 1 |
|
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... |
OMIM:254090 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23 |
|
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... |
OMIM:618138 |
Cap Myopathy |
|
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ... |
ORPHA:171881 |
Amyotrophic Lateral Sclerosis 27, Juvenile |
|
Lower limb spasticity, Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated mus... |
OMIM:620285 |
Heart Defects-Limb Shortening Syndrome |
|
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... |
ORPHA:1354 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6 |
|
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... |
OMIM:613954 |
Oculopharyngodistal Myopathy |
|
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... |
ORPHA:98897 |
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness |
|
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection... |
OMIM:617519 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3 |
|
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... |
OMIM:613157 |
Diastrophic Dysplasia |
|
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... |
OMIM:222600 |
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant |
|
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... |
OMIM:614302 |
Nemaline Myopathy 8 |
|
Death in infancy, Facial palsy, Flexion contracture, Myofibrillar myopathy, Nemaline bodies |
OMIM:615348 |
Poland Syndrome |
|
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... |
OMIM:173800 |
Laing Early-Onset Distal Myopathy |
|
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... |
ORPHA:59135 |
Myopathy, Myofibrillar, 7 |
|
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Sho... |
OMIM:617114 |
Synaptic Congenital Myasthenic Syndromes |
|
Skeletal muscle atrophy, Scapular winging, Facial palsy, Frequent falls, Hand muscle weakness, Ty... |
ORPHA:98915 |
Congenital Myopathy 2A, Typical, Autosomal Dominant |
|
Facial palsy, Frequent falls, Hyperlordosis, Spinal rigidity, Rigidity, Limb muscle weakness, Hyp... |
OMIM:161800 |
Classic Glucose Transporter Type 1 Deficiency Syndrome |
|
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... |
ORPHA:71277 |
Myopathy, X-Linked, With Excessive Autophagy |
|
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... |
OMIM:310440 |
Myopathy, Myofibrillar, 4 |
|
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting |
OMIM:609452 |
Myopathic Ehlers-Danlos Syndrome |
|
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... |
ORPHA:536516 |
Spondylometaphyseal Dysplasia, Type A4 |
|
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... |
OMIM:609052 |
Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... |
ORPHA:803 |
Brachyolmia Type 1, Hobaek Type |
|
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... |
OMIM:271530 |
Dystonia 1, Torsion, Autosomal Dominant |
|
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... |
OMIM:128100 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... |
ORPHA:174 |
Striatonigral Degeneration, Infantile, Mitochondrial |
|
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers |
OMIM:500003 |
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability |
|
Lower limb spasticity, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal ... |
OMIM:617404 |
Muscular Dystrophy, Congenital Merosin-Deficient, 1A |
|
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy |
OMIM:607855 |
Fkrp-Related Limb-Girdle Muscular Dystrophy R9 |
|
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... |
ORPHA:34515 |
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome |
|
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... |
ORPHA:2141 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5 |
|
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Elevat... |
OMIM:606612 |
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia |
|
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... |
OMIM:613330 |
Idiopathic Camptocormia |
|
Myositis, Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, E... |
ORPHA:1320 |
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression |
|
Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Dystonia, Weakness of facial musculature |
OMIM:618416 |
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy |
|
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Dystonia |
OMIM:618276 |
Bronchogenic Cyst |
|
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... |
ORPHA:2357 |
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers |
|
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Qua... |
ORPHA:206546 |
Spastic Paraplegia Type 7 |
|
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal pyramidal sign, Babinski sig... |
ORPHA:99013 |
Hereditary Motor And Sensory Neuropathy, Type Iic |
|
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... |
OMIM:606071 |
Mitochondrial Complex I Deficiency, Nuclear Type 25 |
|
Myopathy, Nemaline bodies, Intrauterine growth retardation |
OMIM:618246 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Ataxia, Centrally nucle... |
OMIM:607459 |
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies |
|
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger |
OMIM:618453 |
Gm1-Gangliosidosis, Type Iii |
|
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Flared iliac wing, Platyspondyly, Scol... |
OMIM:230650 |
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia |
|
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Hyperlordosis,... |
ORPHA:52430 |
Acro-Renal-Mandibular Syndrome |
|
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma... |
ORPHA:958 |
Zimmermann-Laband Syndrome 3 |
|
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm... |
OMIM:618658 |
Congenital Myopathy 10B, Mild Variant |
|
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... |
OMIM:620249 |
Congenital Myopathy 15 |
|
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... |
OMIM:620161 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... |
ORPHA:93314 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Abnormal muscle fiber protein expression |
ORPHA:330054 |
Bronchopulmonary Dysplasia |
|
Atelectasis, Abnormal lung morphology, Diaphragmatic paralysis, Pulmonary sequestration, Hyperoxe... |
ORPHA:70589 |
Ullrich Congenital Muscular Dystrophy 2 |
|
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... |
OMIM:616470 |
Creatine Phosphokinase, Elevated Serum |
|
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... |
OMIM:123320 |
Acromesomelic Dysplasia, Maroteaux Type |
|
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... |
ORPHA:40 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... |
OMIM:613818 |
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type) |
|
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, Death in... |
OMIM:609560 |
Hypotonia, Infantile, With Psychomotor Retardation |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:616816 |
X-Linked Charcot-Marie-Tooth Disease Type 5 |
|
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abn... |
ORPHA:99014 |
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy |
|
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... |
ORPHA:98855 |
Mitochondrial Complex I Deficiency, Nuclear Type 21 |
|
Myopathy, Ragged-red muscle fibers |
OMIM:618242 |
Mitochondrial Complex I Deficiency, Nuclear Type 15 |
|
Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Neonatal death |
OMIM:618237 |
Hereditary Neuropathy With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis |
ORPHA:640 |
Axial Spondylometaphyseal Dysplasia |
|
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... |
ORPHA:168549 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Hyperlordosis, Abnormal ... |
ORPHA:3068 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus... |
ORPHA:536467 |
Glut1 Deficiency Syndrome 1 |
|
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity |
OMIM:606777 |
Adult-Onset Distal Myopathy Due To Vcp Mutation |
|
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat... |
ORPHA:329478 |
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6 |
|
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... |
OMIM:620011 |
Lethal Congenital Contracture Syndrome 9 |
|
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... |
OMIM:616503 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ... |
ORPHA:254886 |
Neuropathy, Hereditary, With Liability To Pressure Palsies |
|
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Hand muscle weakness |
OMIM:162500 |
Diastrophic Dysplasia |
|
Abnormal clavicle morphology, Bowing of the long bones, Recurrent respiratory infections, Camptod... |
ORPHA:628 |
Dyggve-Melchior-Clausen Disease |
|
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... |
OMIM:223800 |
Combined Oxidative Phosphorylation Deficiency 28 |
|
Ragged-red muscle fibers |
OMIM:616794 |
Autosomal Recessive Spondylocostal Dysostosis |
|
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... |
ORPHA:2311 |
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy |
|
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... |
OMIM:226670 |
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome |
|
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... |
ORPHA:1120 |
Kearns-Sayre Syndrome |
|
Skeletal muscle atrophy, Ragged-red muscle fibers |
ORPHA:480 |
Waardenburg Syndrome Type 3 |
|
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Spastic paraplegia, Abnormal fi... |
ORPHA:896 |
Dyggve-Melchior-Clausen Disease |
|
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... |
ORPHA:239 |
Myasthenic Syndrome, Congenital, 16 |
|
Fatigable weakness, High palate, Periodic paralysis, Hyperlordosis |
OMIM:614198 |
Craniofrontonasal Dysplasia |
|
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... |
ORPHA:1520 |
Roussy-Levy Hereditary Areflexic Dystasia |
|
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb postural tremor, Gait ataxi... |
OMIM:180800 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1 |
|
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... |
OMIM:609308 |
Lipodystrophy, Congenital Generalized, Type 4 |
|
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... |
OMIM:613327 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Kyphosis, Oculomotor apraxia, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinoda... |
ORPHA:3454 |
Congenital Myopathy 24 |
|
Scapular winging, Facial palsy, Pectus excavatum, Abnormal circulating creatine kinase concentrat... |
OMIM:617336 |
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Intrinsic... |
OMIM:614895 |
Bethlem Myopathy |
|
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... |
ORPHA:610 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tented upper lip vermilion,... |
ORPHA:98905 |
Ispd-Related Limb-Girdle Muscular Dystrophy R20 |
|
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... |
ORPHA:352479 |
Snakebite Envenomation |
|
Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi... |
ORPHA:449285 |
Becker Nevus Syndrome |
|
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... |
ORPHA:64755 |
Neurogenic Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:100073 |
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome |
|
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr... |
ORPHA:48431 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Recurrent respiratory infections, A... |
OMIM:211530 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:258450 |
Combined Oxidative Phosphorylation Deficiency 49 |
|
Ragged-red muscle fibers |
OMIM:619024 |
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency |
|
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... |
ORPHA:254864 |
Diaphragmatic Hernia 3 |
|
Congenital diaphragmatic hernia |
OMIM:610187 |
Diaphragmatic Hernia, Congenital |
|
Congenital diaphragmatic hernia |
OMIM:142340 |
Rhizomelic Chondrodysplasia Punctata, Type 5 |
|
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... |
OMIM:616716 |
Wieacker-Wolff Syndrome |
|
Proximal placement of thumb, Short neck, High palate, Narrow chest, Long philtrum, Facial palsy, ... |
OMIM:314580 |
Spinocerebellar Ataxia 28 |
|
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia |
OMIM:610246 |
Spastic Paraplegia 46, Autosomal Recessive |
|
Lower limb spasticity, Kyphosis, Babinski sign, Spastic gait, Spastic paraplegia, Hand tremor, An... |
OMIM:614409 |
Andersen Cardiodysrhythmic Periodic Paralysis |
|
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... |
OMIM:170390 |
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy |
|
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Hyperlordosis, Atelectasi... |
ORPHA:258 |
Brown-Vialetto-Van Laere Syndrome 2 |
|
Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Clumsiness, Generalized amyotrop... |
OMIM:614707 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4 |
|
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... |
OMIM:611588 |
Spondylocostal Dysostosis 3, Autosomal Recessive |
|
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... |
OMIM:609813 |
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris |
|
Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Vertebral segmentation defect, Hyp... |
ORPHA:1166 |
Spondylometaphyseal Dysplasia, Axial |
|
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... |
OMIM:602271 |
Hypokalemic Periodic Paralysis, Type 2 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:613345 |
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome |
|
Increased variability in muscle fiber diameter |
OMIM:617915 |
Hyperkalemic Periodic Paralysis |
|
Hyponatremia, Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyper... |
ORPHA:682 |
Fibrosis Of Extraocular Muscles, Congenital, 3C |
|
Pectus excavatum, Thin upper lip vermilion, Congenital fibrosis of extraocular muscles, Kyphosis |
OMIM:609384 |
Pseudoachondroplasia |
|
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... |
OMIM:177170 |
Myoclonus, Intractable, Neonatal |
|
Athetosis, Increased variability in muscle fiber diameter |
OMIM:617235 |
Kyphomelic Dysplasia |
|
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... |
ORPHA:1801 |
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency |
|
Increased variability in muscle fiber diameter |
OMIM:613752 |
Short-Rib Thoracic Dysplasia 12 |
|
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... |
OMIM:269860 |
Scheuermann Disease |
|
Kyphosis, Morbus Scheuermann |
OMIM:181440 |
Sprengel Deformity |
|
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... |
OMIM:184400 |
Craniodiaphyseal Dysplasia, Autosomal Dominant |
|
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Death in adolescence, Facial di... |
OMIM:122860 |
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers |
|
Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Oligodontia, Everted l... |
ORPHA:276630 |
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome |
|
Tremor, Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber dia... |
ORPHA:397744 |
Myotonia With Skeletal Abnormalities And Mental Retardation |
|
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... |
OMIM:255710 |
Jeune Syndrome |
|
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... |
ORPHA:474 |
Lethal Congenital Contracture Syndrome Type 1 |
|
Skeletal muscle atrophy, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodi... |
ORPHA:1486 |
Intellectual Developmental Disorder, X-Linked 82 |
|
Kyphosis, Scoliosis |
OMIM:300518 |
Combined Oxidative Phosphorylation Defect Type 27 |
|
Ragged-red muscle fibers, Upper limb postural tremor |
ORPHA:477774 |
Horner Syndrome, Congenital |
|
Congenital Horner syndrome, Paralysis |
OMIM:143000 |
Combined Oxidative Phosphorylation Deficiency 31 |
|
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... |
OMIM:617228 |
Femoral-Facial Syndrome |
|
Thin upper lip vermilion, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morph... |
ORPHA:1988 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Left ventric... |
OMIM:252011 |
Spondylometaphyseal Dysplasia, X-Linked |
|
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... |
OMIM:313420 |
Classic Multiminicore Myopathy |
|
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... |
ORPHA:324604 |
Lethal Congenital Contracture Syndrome 10 |
|
Thoracic scoliosis, Overlapping fingers, Torticollis, Short neck, Increased variability in muscle... |
OMIM:617022 |
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness |
|
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... |
OMIM:609616 |
Fibrochondrogenesis 1 |
|
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... |
OMIM:228520 |
Spinal Muscular Atrophy With Congenital Bone Fractures 2 |
|
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... |
OMIM:616867 |
Myoglobinuria, Recurrent |
|
Ragged-red muscle fibers |
OMIM:550500 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Neuropathic spinal arthropathy, Facial palsy, Elevated circulating creatine kinase concentration,... |
OMIM:615084 |
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1 |
|
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis |
OMIM:105500 |
Familial Cervical Artery Dissection |
|
Abnormal circulating lipid concentration, Facial palsy, Paralysis |
ORPHA:36382 |
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4 |
|
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... |
ORPHA:119 |
3M Syndrome |
|
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... |
ORPHA:2616 |
Coenzyme Q10 Deficiency, Primary, 9 |
|
Tremor, Type 2 muscle fiber predominance |
OMIM:619028 |
Mesomelic Dysplasia, Kantaputra Type |
|
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... |
ORPHA:1836 |
Juvenile Amyotrophic Lateral Sclerosis |
|
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Clonus, Pa... |
ORPHA:300605 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dental malocclusion, Fatigable weak... |
OMIM:608931 |
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... |
OMIM:608940 |
Greig Cephalopolysyndactyly Syndrome |
|
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... |
OMIM:175700 |
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome |
|
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... |
ORPHA:93267 |
Mosaic Trisomy 14 |
|
Camptodactyly of finger, Short neck, Abnormal rib morphology, Cleft palate, Wide mouth, Ectopic a... |
ORPHA:1703 |
Autosomal Dominant Spondylocostal Dysostosis |
|
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... |
ORPHA:1797 |
Intermediate Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... |
ORPHA:171433 |
Dysosteosclerosis |
|
Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral endplates, Olig... |
OMIM:224300 |
Xp22.13P22.2 Duplication Syndrome |
|
Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Recurrent upper re... |
ORPHA:284180 |
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development |
|
Ataxia, High, narrow palate, Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness |
OMIM:618124 |
Schwartz-Jampel Syndrome, Type 1 |
|
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... |
OMIM:255800 |
Cooper-Jabs Syndrome |
|
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... |
ORPHA:1488 |
Mitochondrial Myopathy And Sideroblastic Anemia |
|
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long philtrum |
ORPHA:2598 |
8p23.1 deletion syndrome |
|
Congenital diaphragmatic hernia |
DECIPHER:39 |
Spinocerebellar Ataxia Type 3 |
|
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... |
ORPHA:98757 |
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome |
|
Abnormal rib morphology |
ORPHA:2435 |
Huntington Disease-Like 1 |
|
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Abnormal s... |
ORPHA:157941 |
Acrocapitofemoral Dysplasia |
|
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... |
OMIM:607778 |
Asbestos Intoxication |
|
Cyanosis, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interst... |
ORPHA:2302 |
Arthrogryposis, Distal, Type 5 |
|
Decreased muscle mass, Arachnodactyly, Pectus excavatum, Kyphosis, Absent phalangeal crease, Dist... |
OMIM:108145 |
Severe Congenital Nemaline Myopathy |
|
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... |
ORPHA:171430 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Myopathy, Increased variability in muscle fiber diameter |
OMIM:125250 |
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type |
|
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... |
OMIM:151210 |
Spondylometaphyseal Dysplasia, Kozlowski Type |
|
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... |
OMIM:184252 |
Craniodiaphyseal Dysplasia |
|
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening |
ORPHA:1513 |
Stuve-Wiedemann Syndrome 2 |
|
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... |
OMIM:619751 |
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant |
|
Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle fiber size, Increased e... |
OMIM:620278 |
Myofibrillar Myopathy 10 |
|
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... |
OMIM:619040 |
Renpenning Syndrome |
|
Skeletal muscle atrophy, Macrodontia, Pectus excavatum, Abnormal thumb morphology, High, narrow p... |
ORPHA:3242 |
Greig Cephalopolysyndactyly Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:380 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Cerebral palsy, Kyphosis, Deep philtrum, Wide mouth, Hypertonia, Short philtrum, Thick vermilion ... |
OMIM:615834 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
|
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... |
ORPHA:93351 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... |
ORPHA:79107 |
Spastic Paraplegia, Optic Atrophy, And Neuropathy |
|
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Ba... |
OMIM:609541 |
Hypokalemic Periodic Paralysis, Type 1 |
|
Myopathy, Hypokalemia, Periodic paralysis |
OMIM:170400 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial palsy, Short neck, Kyph... |
OMIM:301041 |
Winchester Syndrome |
|
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... |
OMIM:277950 |
Porphyria, Acute Hepatic |
|
Respiratory paralysis, Paralysis |
OMIM:612740 |
Laryngeal Adductor Paralysis |
|
Paralysis |
OMIM:150270 |
Vocal Cord Paralysis And Ptosis |
|
Vocal cord paralysis |
OMIM:193240 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue |
ORPHA:663 |
Alpha-Mannosidosis |
|
Recurrent respiratory infections, Bowing of the long bones, Short neck, Open bite, Kyphosis, Dent... |
ORPHA:61 |
Sialidosis Type 2 |
|
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Short thorax, Flexion contracture, Pectus cari... |
ORPHA:87876 |
Emery-Dreifuss Muscular Dystrophy 1, X-Linked |
|
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... |
OMIM:310300 |
Butyrylcholinesterase Deficiency |
|
Paralysis |
ORPHA:132 |
Acute Interstitial Pneumonia |
|
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... |
ORPHA:79126 |
Combined Oxidative Phosphorylation Defect Type 13 |
|
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... |
ORPHA:319514 |
Autosomal Recessive Spastic Paraplegia Type 53 |
|
Kyphosis, Upper limb hypertonia, Clonus, Pectus carinatum |
ORPHA:319199 |
Coffin-Lowry Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Hypertonia, Hig... |
ORPHA:192 |
Farber Disease |
|
Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Paraparesis, Short toe, Flexion contr... |
ORPHA:333 |
Arthrogryposis, Distal, Type 3 |
|
Decreased muscle mass, Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneou... |
OMIM:114300 |
Acromesomelic Dysplasia 2A |
|
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... |
OMIM:200700 |
Cutis Laxa-Marfanoid Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Emphysema |
ORPHA:171719 |
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly |
|
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... |
OMIM:618019 |
Lethal Congenital Contracture Syndrome 1 |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... |
OMIM:253310 |
Metaphyseal Chondrodysplasia, Schmid Type |
|
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... |
OMIM:156500 |
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type |
|
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... |
OMIM:608728 |
Machado-Joseph Disease Type 3 |
|
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Ne... |
ORPHA:276244 |
Holt-Oram Syndrome |
|
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... |
ORPHA:392 |
Sporadic Infantile Bilateral Striatal Necrosis |
|
Resting tremor, Titubation, Dystonia, Abnormal posturing, Hypomimic face |
ORPHA:225147 |
Japanese Encephalitis |
|
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... |
ORPHA:79139 |
Spondyloepimetaphyseal Dysplasia, Strudwick Type |
|
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... |
OMIM:184250 |
Cartilage-Hair Hypoplasia |
|
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... |
ORPHA:175 |
Vocal Cord And Pharyngeal Distal Myopathy |
|
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... |
ORPHA:600 |
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures |
|
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Hip dislocation, Talipes equinovar... |
OMIM:616756 |
Poliomyelitis |
|
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... |
ORPHA:2912 |
Masa Syndrome |
|
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Talipes equinovar... |
OMIM:303350 |
Mucopolysaccharidosis, Type Iva |
|
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Wide... |
OMIM:253000 |
Congenital Myasthenic Syndrome |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Congenital hip dislocation, Ata... |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Neuropathic spinal arthropathy, Recurrent respiratory infections, Congenital hip dislocation, Ata... |
ORPHA:98914 |
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly |
|
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... |
OMIM:617405 |
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Abnormality of the dentition, Kyphosis, Pectus ... |
ORPHA:1548 |
Glycogen Storage Disease Due To Aldolase A Deficiency |
|
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... |
ORPHA:57 |
Spastic Paraplegia 53, Autosomal Recessive |
|
Clonus, Kyphosis, Spastic paraplegia, Pectus carinatum, Lower limb hypertonia, Upper limb hypertonia |
OMIM:614898 |
X-Linked Intellectual Disability, Stocco Dos Santos Type |
|
Congenital bilateral hip dislocation, Recurrent respiratory infections, Kyphosis, Talipes equinov... |
ORPHA:85288 |
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant |
|
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviati... |
OMIM:618291 |
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5 |
|
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... |
OMIM:607155 |
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10 |
|
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Bronchiectasis, S... |
OMIM:620080 |
Van Den Bosch Syndrome |
|
Recurrent respiratory infections, Scapular winging, Unfavorable response of muscle weakness to ac... |
ORPHA:3417 |
Rabies |
|
Recurrent pharyngitis, Vocal cord paresis, Cerebral palsy |
ORPHA:770 |
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome |
|
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Hip d... |
ORPHA:464282 |
Crisponi Syndrome |
|
Death in infancy, Camptodactyly of finger, Narrow mouth, Kyphosis, Flexion contracture, Hypertoni... |
ORPHA:1545 |
Desbuquois Dysplasia 1 |
|
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... |
OMIM:251450 |
Uruguay Faciocardiomusculoskeletal Syndrome |
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Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circulating cre... |
OMIM:300280 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
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Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e... |
ORPHA:2215 |
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction |
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Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... |
OMIM:610978 |
Congenital Myopathy 22B, Severe Fetal |
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Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Flexion contracture,... |
OMIM:620369 |
Axial Mesodermal Dysplasia Spectrum |
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Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormal rib morphology, Gingival over... |
ORPHA:1834 |
Frontometaphyseal Dysplasia 1 |
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Skeletal muscle atrophy, Selective tooth agenesis, Knee flexion contracture, Increased density of... |
OMIM:305620 |
Autism Spectrum Disorder Due To Auts2 Deficiency |
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Cerebral palsy, Kyphosis, Congenital contracture, Hypertonia, Short philtrum, Joint contracture o... |
ORPHA:352490 |
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities |
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Decreased motor nerve conduction velocity, Short neck, Flexion contracture, Spastic paraplegia, H... |
OMIM:619026 |
Fibrochondrogenesis |
|
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... |
ORPHA:2021 |
15Q24 Microdeletion Syndrome |
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Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... |
ORPHA:94065 |
Cleidocranial Dysplasia |
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High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... |
ORPHA:1452 |
Sialidosis Type 1 |
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Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Thick low... |
ORPHA:812 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type |
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Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Thick lower lip vermilion, Small hand... |
OMIM:300354 |
Cutis Laxa, Neonatal, With Marfanoid Phenotype |
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Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation |
OMIM:614100 |
Spondyloepimetaphyseal Dysplasia, Irapa Type |
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Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... |
OMIM:271650 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type |
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Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis |
OMIM:300434 |
Charcot-Marie-Tooth Disease Type 4B2 |
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Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... |
ORPHA:99956 |
Three M Syndrome 2 |
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Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho... |
OMIM:612921 |
Microphthalmia, Syndromic 12 |
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Neonatal death, Congenital diaphragmatic hernia |
OMIM:615524 |
Variegate Porphyria |
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Paralysis |
OMIM:176200 |
Mucopolysaccharidosis, Type Ivb |
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Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... |
OMIM:253010 |
Mucopolysaccharidosis Type 4 |
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Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal... |
ORPHA:582 |
Muscular Dystrophy, Congenital, Megaconial Type |
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Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy |
OMIM:602541 |
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes |
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Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers |
OMIM:540000 |
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia |
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Athetosis, Amyotrophic lateral sclerosis, Paralysis |
OMIM:300857 |
Klippel-Feil Syndrome 1, Autosomal Dominant |
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Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Ce... |
OMIM:118100 |
Hurler Syndrome |
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Abnormal clavicle morphology, Death in infancy, Cerebral palsy, Recurrent respiratory infections,... |
ORPHA:93473 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
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Abnormal clavicle morphology, Abnormal dental morphology, Short neck, Pectus excavatum, Spinal co... |
ORPHA:2522 |
Proximal 16P11.2 Microduplication Syndrome |
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Thin upper lip vermilion, Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae,... |
ORPHA:370079 |
Achondrogenesis, Type Ia |
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Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... |
OMIM:200600 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
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Ragged-red muscle fibers, Generalized amyotrophy |
OMIM:613561 |
Machado-Joseph Disease Type 1 |
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Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276238 |
Machado-Joseph Disease Type 2 |
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Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... |
ORPHA:276241 |
X-Linked Adrenoleukodystrophy |
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Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... |
ORPHA:43 |
Multiple Pterygium Syndrome, Escobar Variant |
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Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... |
OMIM:265000 |
Acrocallosal Syndrome |
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Abnormal clavicle morphology, Congenital diaphragmatic hernia, Wide anterior fontanel, Postaxial ... |
ORPHA:36 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
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Kyphosis, Congenital muscular dystrophy |
ORPHA:1875 |
Mucopolysaccharidosis Type 6 |
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Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip vermilion, Re... |
ORPHA:583 |
Immune-Mediated Necrotizing Myopathy |
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Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... |
ORPHA:206569 |
Schwartz-Jampel Syndrome |
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Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Short ne... |
ORPHA:800 |
Poland Syndrome |
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Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... |
ORPHA:2911 |
Tonne-Kalscheuer Syndrome |
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Congenital diaphragmatic hernia, Tremor, Velopharyngeal insufficiency, Downturned corners of mout... |
OMIM:300978 |
Fetal Encasement Syndrome |
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Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb unde... |
OMIM:613630 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
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Skeletal muscle atrophy, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Ragg... |
OMIM:616479 |
Thyrotoxic Periodic Paralysis |
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Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral... |
ORPHA:79102 |
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy |
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Skeletal muscle atrophy, Limb muscle weakness, Paralysis |
OMIM:612300 |
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type |
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Micromelia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpa... |
OMIM:271665 |
Prune Belly Syndrome |
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Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca... |
ORPHA:2970 |
Hypophosphatasia |
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Bowing of the long bones, Hypercalcemia, Abnormality of the dentition, Emphysema, Abnormal rib mo... |
ORPHA:436 |
Mcdonough Syndrome |
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Pectus excavatum, Open bite, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Dent... |
ORPHA:2471 |
Richieri Costa-Da Silva Syndrome |
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Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Abnormality of the dentition, Metatarsus ... |
ORPHA:3101 |
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... |
ORPHA:3082 |
Charcot-Marie-Tooth Disease, Axonal, Type 2R |
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Decreased motor nerve conduction velocity, Decreased muscle mass, Vocal cord paralysis, Intrinsic... |
OMIM:615490 |
Schneckenbecken Dysplasia |
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Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... |
OMIM:269250 |
Arnold-Chiari Malformation Type I |
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Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... |
ORPHA:268882 |
Mucopolysaccharidosis, Type X |
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Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, G... |
OMIM:619698 |
Cdkl5-Deficiency Disorder |
|
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Everted lower lip v... |
ORPHA:505652 |
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy |
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Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... |
OMIM:601152 |
C1Q Deficiency 2 |
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Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Oral ulcer, R... |
OMIM:620321 |
Zaki Syndrome |
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Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Wide mouth, Median ... |
OMIM:619648 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
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Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi... |
ORPHA:352447 |
Spinocerebellar Ataxia Type 18 |
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Skeletal muscle atrophy, Head tremor, Titubation |
ORPHA:98771 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures |
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Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... |
OMIM:271640 |
Rhizomelic Syndrome, Urbach Type |
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Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp... |
ORPHA:3098 |
Tick-Borne Encephalitis |
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Back pain, Skeletal muscle atrophy, Speech apraxia, Incoordination, Facial palsy, Elevated circul... |
ORPHA:297 |
Spondyloperipheral Dysplasia |
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Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... |
OMIM:271700 |
Weismann-Netter Syndrome |
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Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... |
ORPHA:3344 |
Primary Angiitis Of The Central Nervous System |
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Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis |
ORPHA:140989 |
Mucopolysaccharidosis, Type Vii |
|
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... |
OMIM:253220 |
Juberg-Hayward Syndrome |
|
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... |
ORPHA:2319 |
Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... |
ORPHA:1647 |
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities |
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Tented upper lip vermilion, Clonus, Elevated circulating creatine kinase concentration, Flexion c... |
OMIM:620240 |
Proximal 16P11.2 Microdeletion Syndrome |
|
Speech apraxia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Chor... |
ORPHA:261197 |
Melnick-Needles Syndrome |
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Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Coxa valga... |
ORPHA:2484 |
Spondylocostal Dysostosis 1, Autosomal Recessive |
|
Back pain, Vertebral fusion, Death in infancy, Recurrent respiratory infections, Block vertebrae,... |
OMIM:277300 |
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type) |
|
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Distal amyotr... |
OMIM:271245 |
Trappc11-Related Limb-Girdle Muscular Dystrophy R18 |
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Hyperlordosis, Chorea, Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle ... |
ORPHA:369840 |
Smith-Mccort Dysplasia 1 |
|
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... |
OMIM:607326 |
Spondyloepiphyseal Dysplasia, Kondo-Fu Type |
|
Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly |
OMIM:618392 |
Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Tongue atrophy, Freque... |
ORPHA:99949 |
Horizontal Gaze Palsy With Progressive Scoliosis |
|
Kyphosis, Scoliosis, Short neck |
ORPHA:2744 |
Acrorenal-Mandibular Syndrome |
|
Congenital diaphragmatic hernia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna... |
OMIM:200980 |
Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... |
OMIM:301900 |
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type |
|
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, S... |
OMIM:616897 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type |
|
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... |
ORPHA:93360 |
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type) |
|
Ragged-red muscle fibers |
OMIM:613662 |
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull |
|
Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hy... |
OMIM:601163 |
Mucus Inspissation Of Respiratory Tract |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:253240 |
Mucolipidosis Iii Gamma |
|
Increased serum beta-hexosaminidase, Short neck, Flat capital femoral epiphysis, Hyperlordosis, K... |
OMIM:252605 |
Thanatophoric Dysplasia, Type I |
|
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... |
OMIM:187600 |
Marden-Walker Syndrome |
|
Decreased muscle mass, Arachnodactyly, Short neck, High, narrow palate, Narrow mouth, Pyloric ste... |
OMIM:248700 |
Bruck Syndrome 1 |
|
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... |
OMIM:259450 |
Spinocerebellar Ataxia Type 26 |
|
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... |
ORPHA:101112 |
Coffin-Siris Syndrome 3 |
|
Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, M... |
OMIM:614608 |
Imperforate Oropharynx-Costovertebral Anomalies Syndrome |
|
Recurrent respiratory infections, Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia... |
ORPHA:2759 |
Chromosome 1Q41-Q42 Deletion Syndrome |
|
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Congenital diaphragmatic hernia... |
OMIM:612530 |
Ciliary Dyskinesia, Primary, 47, And Lissencephaly |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:619466 |
Oculocerebrorenal Syndrome Of Lowe |
|
Dental crowding, Clonus, Hypoammonemia, Deep philtrum, Gingivitis, Periodontitis, Hyponatremia, D... |
ORPHA:534 |
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder |
|
Kyphosis, Chorea, Abnormal pyramidal sign, Pectus carinatum, Gait ataxia, Abnormality of extrapyr... |
ORPHA:500180 |
Gillessen-Kaesbach-Nishimura Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Wide anterior fontanel,... |
OMIM:263210 |
Sandifer Syndrome |
|
Abnormal posturing, Torticollis |
ORPHA:71272 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Decreased miniature endplate potentials, Prolonged miniature endplate currents |
OMIM:616321 |
Pelger-Huet Anomaly |
|
Foot dorsiflexor weakness, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingiv... |
OMIM:169400 |
Dysostosis, Stanescu Type |
|
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... |
ORPHA:1798 |
Achondroplasia |
|
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... |
ORPHA:15 |
Thanatophoric Dysplasia, Type Ii |
|
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... |
OMIM:187601 |
Lopes-Maciel-Rodan Syndrome |
|
Tremor, Kyphosis, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesia, Hy... |
OMIM:617435 |
Achondrogenesis Type 1B |
|
Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Aplasia/Hypoplasia of ... |
ORPHA:93298 |
Grant Syndrome |
|
Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic girdle bone morphol... |
ORPHA:2097 |
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly |
|
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... |
OMIM:613091 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 1 |
|
Hypokalemia, Rhabdomyolysis, Periodic paralysis |
OMIM:188580 |
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome |
|
Congenital diaphragmatic hernia, Crowded maxillary incisors, Abnormal lung lobation, Abnormal fem... |
ORPHA:2063 |
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness |
|
Atelectasis, Recurrent bronchitis |
OMIM:300455 |
Fibrochondrogenesis 2 |
|
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... |
OMIM:614524 |
Spondyloepiphyseal Dysplasia Congenita |
|
Back pain, Short neck, Glossoptosis, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h... |
ORPHA:94068 |
Hip Dysplasia, Beukes Type |
|
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... |
ORPHA:2114 |
Ruvalcaba Syndrome |
|
Short metacarpal, Dental crowding, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot... |
OMIM:180870 |
Osteogenesis Imperfecta, Type Ix |
|
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scol... |
OMIM:259440 |
Cutis Laxa, Autosomal Recessive, Type Ic |
|
Posterolateral diaphragmatic hernia, Death in infancy, Sandal gap, Morgagni diaphragmatic hernia,... |
OMIM:613177 |
Arthrogryposis, Distal, Type 4 |
|
2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal ... |
OMIM:609128 |
Congenital Disorder Of Glycosylation, Type Iig |
|
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Rhizome... |
OMIM:611209 |
Hall-Riggs Syndrome |
|
Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregul... |
OMIM:234250 |
Atelosteogenesis, Type I |
|
Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia, ... |
OMIM:108720 |
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly |
|
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora... |
OMIM:615633 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor... |
OMIM:610743 |
Ossification Anomalies-Psychomotor Developmental Delay Syndrome |
|
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... |
ORPHA:73230 |
Gm1 Gangliosidosis |
|
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration pneumonia, Ataxia... |
ORPHA:354 |
Distal 7Q11.23 Microduplication Syndrome |
|
Congenital diaphragmatic hernia |
ORPHA:261102 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype... |
OMIM:615761 |
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome |
|
Optic disc pallor, Pectus excavatum, Tremor, Increased variability in muscle fiber diameter, Dysm... |
ORPHA:502423 |
Thoracolaryngopelvic Dysplasia |
|
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... |
OMIM:187760 |
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome |
|
Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scol... |
ORPHA:2429 |
Spondyloepimetaphyseal Dysplasia, Missouri Type |
|
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... |
OMIM:602111 |
Infant Acute Respiratory Distress Syndrome |
|
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Hypoxe... |
ORPHA:70587 |
Hemifacial Atrophy, Progressive |
|
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Horner syndrome... |
OMIM:141300 |
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome |
|
Congenital diaphragmatic hernia, Gait ataxia |
ORPHA:438134 |
Congenital Diaphragmatic Hernia |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hyp... |
ORPHA:2140 |
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness |
|
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... |
OMIM:250420 |
Ciliary Dyskinesia, Primary, 29 |
|
Recurrent respiratory infections, Atelectasis, Bronchiectasis |
OMIM:615872 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... |
ORPHA:365 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
|
Thoracolumbar kyphosis, Increased intervertebral space, Opisthotonus, Hypertonia, Narrow greater ... |
ORPHA:508533 |
Paramyotonia Congenita Of Von Eulenburg |
|
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b... |
ORPHA:684 |
Bent Bone Dysplasia Syndrome 2 |
|
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... |
OMIM:620076 |
Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
Anauxetic Dysplasia 3 |
|
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... |
OMIM:618853 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Optic disc pallor, Sandal gap, Congenital diaphragmatic hernia, Long philtrum |
OMIM:300887 |
Frank-Ter Haar Syndrome |
|
Delayed eruption of teeth, Beaking of vertebral bodies, Camptodactyly of finger, Kyphosis, Gingiv... |
ORPHA:137834 |
Neuronal Intestinal Pseudoobstruction |
|
Congenital diaphragmatic hernia |
ORPHA:99811 |
Stuve-Wiedemann Syndrome 1 |
|
Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia, ... |
OMIM:601559 |
Phaver Syndrome |
|
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... |
ORPHA:2876 |
Spondylometaphyseal Dysplasia, Algerian Type |
|
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... |
OMIM:184253 |
Multiple Pterygium Syndrome, X-Linked |
|
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Flexion contracture, Cleft palate... |
OMIM:312150 |
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive |
|
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... |
OMIM:615418 |
Ciliary Dyskinesia, Primary, 33 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... |
OMIM:616726 |
Robinow Syndrome, Autosomal Recessive 1 |
|
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Short palm, Thoracic hemi... |
OMIM:268310 |
13Q12.3 Microdeletion Syndrome |
|
Thin upper lip vermilion, Recurrent respiratory infections, Congenital diaphragmatic hernia, Kyph... |
ORPHA:412035 |
Holt-Oram Syndrome |
|
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... |
OMIM:142900 |
Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... |
ORPHA:3258 |
Autosomal Recessive Ataxia, Beauce Type |
|
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... |
ORPHA:88644 |
Microcephalic Primordial Dwarfism, Toriello Type |
|
Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ... |
ORPHA:2643 |
Ciliary Dyskinesia, Primary, 21 |
|
Atelectasis, Recurrent pneumonia, Bronchiectasis |
OMIM:615294 |
Weismann-Netter Syndrome |
|
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... |
OMIM:112350 |
Trisomy 13 |
|
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... |
ORPHA:3378 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Arachnodactyly, Sandal gap, Dental crowding, Congenital diaphragmatic hernia, Pectus excavatum, C... |
OMIM:617602 |
White Forelock With Malformations |
|
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng... |
ORPHA:2475 |
Czeizel-Losonci Syndrome |
|
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, 2-3... |
ORPHA:2437 |
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome |
|
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... |
ORPHA:2180 |
Kyphomelic Dysplasia |
|
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... |
OMIM:211350 |
Weaver Syndrome |
|
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... |
OMIM:277590 |
Zimmermann-Laband Syndrome 2 |
|
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border |
OMIM:616455 |
Idiopathic Chronic Eosinophilic Pneumonia |
|
Abnormal pulmonary thoracic imaging finding, Elevated circulating C-reactive protein concentratio... |
ORPHA:2902 |
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities |
|
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Fl... |
OMIM:602471 |
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities |
|
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter |
OMIM:619173 |
Greenberg Dysplasia |
|
Micromelia, Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplastic vertebral bodies, H... |
OMIM:215140 |
Spinal Muscular Atrophy With Congenital Bone Fractures 1 |
|
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... |
OMIM:616866 |
Spondyloepiphyseal Dysplasia Tarda |
|
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... |
ORPHA:93284 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Thin upper lip vermilion, Scapular winging, Sandal gap, Dental crowding, Tapered finger, Pectus e... |
OMIM:617061 |
Sandhoff Disease |
|
Kyphosis, Ataxia, Recurrent respiratory infections |
ORPHA:796 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... |
OMIM:258850 |
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1 |
|
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... |
OMIM:500013 |
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome |
|
Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion, Hip dysplasia, Scolio... |
ORPHA:1858 |
Schaaf-Yang Syndrome |
|
Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, S... |
OMIM:615547 |
Myopathy, Mitochondrial, And Ataxia |
|
Ataxia, Elevated circulating creatine kinase concentration, Pectus excavatum, Tremor, Dysmetria, ... |
OMIM:617675 |
Campomelic Dysplasia |
|
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiph... |
OMIM:114290 |
Osteogenesis Imperfecta, Type Xiii |
|
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m... |
OMIM:614856 |
Rett Syndrome |
|
Skeletal muscle atrophy, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ataxia, Short... |
OMIM:312750 |
Multiple Synostoses Syndrome 1 |
|
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... |
OMIM:186500 |
Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... |
ORPHA:280 |
Jansen-De Vries Syndrome |
|
Thin upper lip vermilion, Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Wi... |
OMIM:617450 |
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss |
|
Increased serum pyruvate, Ragged-red muscle fibers, Ataxia, Slurred speech |
ORPHA:1349 |
Congenital Fiber-Type Disproportion Myopathy |
|
Congenital hip dislocation, Dental crowding, Flexion contracture, Knee flexion contracture, High ... |
ORPHA:2020 |
Mucopolysaccharidosis, Type Vi |
|
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... |
OMIM:253200 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasi... |
OMIM:222765 |
Optic Atrophy 11 |
|
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi... |
OMIM:617302 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... |
OMIM:157640 |
Otopalatodigital Syndrome Type 2 |
|
Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral seg... |
ORPHA:90652 |
Methylmalonic Aciduria And Homocystinuria, Cblj Type |
|
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Bell-shaped thorax, Elevated circ... |
OMIM:614857 |
Gm1 Gangliosidosis Type 1 |
|
Exaggerated startle response, Spatulate ribs, Gingival overgrowth, Spasticity, Pectus carinatum, ... |
ORPHA:79255 |
Pontine Tegmental Cap Dysplasia |
|
Ataxia, Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scolio... |
OMIM:614688 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 2 |
|
Myopathy, Death in infancy, Increased variability in muscle fiber diameter, Limb dystonia |
OMIM:604377 |
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects |
|
Congenital diaphragmatic hernia, Short neck, Pectus carinatum, Shoulder dislocation, Narrow chest... |
OMIM:245600 |
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies |
|
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K... |
OMIM:619797 |
Mitochondrial Complex I Deficiency, Nuclear Type 11 |
|
Myopathy, Kyphosis, Scoliosis |
OMIM:618234 |
Urban-Rogers-Meyer Syndrome |
|
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Short neck, Kyphosis, Short... |
ORPHA:3409 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Death in infancy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy |
OMIM:619424 |
Meconium Aspiration Syndrome |
|
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Hypoxemia, Aspiration pne... |
ORPHA:70588 |
Vacterl/Vater Association |
|
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... |
ORPHA:887 |
4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Abnormality of the dentition, Short neck, Kyphosis, Tremor, Small han... |
ORPHA:238750 |
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis |
|
Tented upper lip vermilion, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Metaphyseal wid... |
OMIM:618476 |
Lethal Kniest-Like Dysplasia |
|
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... |
ORPHA:2347 |
Mosaic Trisomy 1 |
|
Thoracic scoliosis, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmon... |
ORPHA:1692 |
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3 |
|
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... |
OMIM:618395 |
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome |
|
Intestinal malrotation, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cl... |
ORPHA:77300 |
Glycogen Storage Disease Xv |
|
Scapular winging, Type 1 muscle fiber predominance |
OMIM:613507 |
Classic Pantothenate Kinase-Associated Neurodegeneration |
|
Optic disc pallor, Abnormality of the tongue, Spasticity, Opisthotonus, Aspiration pneumonia, Abn... |
ORPHA:216866 |
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies |
|
Exaggerated startle response, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydacty... |
OMIM:617527 |
Autosomal Recessive Robinow Syndrome |
|
Tented upper lip vermilion, Short neck, Orofacial cleft, Pectus carinatum, Downturned corners of ... |
ORPHA:1507 |
Clark-Baraitser syndrome |
|
Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermilion, Genu valgu... |
OMIM:300602 |
Fountain Syndrome |
|
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Pectus excavatum, Kyph... |
ORPHA:3219 |
Flynn-Aird Syndrome |
|
Skeletal muscle atrophy, Ataxia, Carious teeth, Kyphosis, Scoliosis |
ORPHA:2047 |
Meier-Gorlin Syndrome 1 |
|
Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ... |
OMIM:224690 |
Andersen-Tawil Syndrome |
|
Thin upper lip vermilion, Abnormality of dental color, Periodic hyperkalemic paralysis, Dental cr... |
ORPHA:37553 |
Holzgreve Syndrome |
|
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... |
ORPHA:2167 |
Kagami-Ogata Syndrome |
|
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, T... |
OMIM:608149 |
Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... |
OMIM:600920 |
Hydrocephaly-Tall Stature-Joint Laxity Syndrome |
|
Arachnodactyly, High, narrow palate, Kyphosis, Shoulder dislocation, Scoliosis, Hemiplegia, Adduc... |
ORPHA:2181 |
Hypomelanosis Of Ito |
|
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... |
OMIM:300337 |
Ruvalcaba Syndrome |
|
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... |
ORPHA:3121 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... |
OMIM:616239 |
Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia... |
OMIM:313400 |
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome |
|
Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology... |
ORPHA:2916 |
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type |
|
Death in infancy, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality o... |
ORPHA:163966 |
Osteogenesis Imperfecta, Type X |
|
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... |
OMIM:613848 |
Emanuel Syndrome |
|
Recurrent respiratory infections, Torticollis, Congenital hip dislocation, Dental crowding, Intes... |
OMIM:609029 |
Multiple Pterygium Syndrome, Lethal Type |
|
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Cleft palate, Thin ribs, Amyo... |
OMIM:253290 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Skeletal muscle atrophy, Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Arthrogryposis mu... |
OMIM:617143 |
Ck Syndrome |
|
Dental crowding, Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal digit morphology |
OMIM:300831 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1 |
|
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con... |
OMIM:130060 |
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive |
|
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... |
OMIM:619461 |
Atypical Rett Syndrome |
|
Involuntary movements, Tremor, Kyphosis, Small hand, Limb myoclonus, Gait ataxia, Short foot, Pil... |
ORPHA:3095 |
Achondrogenesis Type 1A |
|
Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Aplasia/Hypoplasia of t... |
ORPHA:93299 |
Emanuel Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Sacral dimple, Multiple joint contra... |
ORPHA:96170 |
Spondylocostal Dysostosis 2, Autosomal Recessive |
|
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert... |
OMIM:608681 |
Autosomal Recessive Kenny-Caffey Syndrome |
|
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... |
ORPHA:93324 |
Isolated Anencephaly |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:563609 |
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... |
ORPHA:85167 |
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome |
|
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Abnormal sens... |
ORPHA:88628 |
Brachytelephalangic Chondrodysplasia Punctata |
|
Cervical kyphosis, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebral hypoplasi... |
ORPHA:79345 |
Trisomy 1Q |
|
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... |
ORPHA:261344 |
Spondyloepiphyseal Dysplasia Congenita |
|
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... |
OMIM:183900 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1 |
|
Scapular winging, Hyperlordosis, Increased circulating ferritin concentration, Ragged-red muscle ... |
OMIM:600462 |
Camurati-Engelmann Disease |
|
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin... |
ORPHA:1328 |
Acromesomelic Dysplasia 4 |
|
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... |
OMIM:619636 |
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome |
|
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, A... |
ORPHA:3035 |
Focal Dermal Hypoplasia |
|
Congenital diaphragmatic hernia, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... |
ORPHA:2092 |
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures |
|
Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, Thin ribs, Narrow mouth, Sp... |
OMIM:614833 |
Spondylocostal Dysostosis 5 |
|
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... |
OMIM:122600 |
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency |
|
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... |
OMIM:618022 |
Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation,... |
ORPHA:818 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Camptodactyly of finger, Pectus excavatum, Aplasia/Hy... |
ORPHA:2990 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... |
OMIM:609945 |
Plaa-Associated Neurodevelopmental Disorder |
|
Hyperextensibility of the finger joints, Exaggerated startle response, Tented upper lip vermilion... |
ORPHA:521426 |
Myopathy, Epilepsy, And Progressive Cerebral Atrophy |
|
Death in infancy, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, ... |
OMIM:619036 |
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome |
|
Ataxia, Kyphosis, Cleft palate, Short philtrum, Scoliosis |
ORPHA:85317 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Facial hypotonia, Kyphosis, Babinski sign, Narrow palate, Spasticity, Short upper lip, Thick verm... |
ORPHA:364028 |
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy |
|
Right ventricular hypertrophy, Increased variability in muscle fiber diameter, Type 1 muscle fibe... |
OMIM:612949 |
X-Linked Intellectual Disability, Cabezas Type |
|
Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Short neck, Open bit... |
ORPHA:85293 |
Craniosynostosis, Herrmann-Opitz Type |
|
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Cleft palate, Aplasia/Hypopla... |
ORPHA:2145 |
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form |
|
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content |
ORPHA:228302 |
Spondyloepimetaphyseal Dysplasia, X-Linked |
|
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... |
OMIM:300106 |
Overlap Myositis |
|
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci... |
ORPHA:206572 |
Cerebral Cavernous Malformations 3 |
|
Paralysis |
OMIM:603285 |
Brachyolmia Type 3 |
|
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... |
OMIM:113500 |
Aspergillosis |
|
Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal rib morphology, Bro... |
ORPHA:1163 |
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14 |
|
Tented upper lip vermilion, Short neck, Deep philtrum, Flexion contracture, Hemivertebrae, Tibial... |
ORPHA:96334 |
Opsismodysplasia |
|
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... |
OMIM:258480 |
Genitopalatocardiac Syndrome |
|
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cle... |
ORPHA:2075 |
Myopathy With Lactic Acidosis, Hereditary |
|
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... |
OMIM:255125 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size |
ORPHA:2348 |
Cornelia De Lange Syndrome 1 |
|
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Sh... |
OMIM:122470 |
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia |
|
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... |
OMIM:300863 |
Thanatophoric Dysplasia |
|
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hip dysplasia, Platyspo... |
ORPHA:2655 |
Gastrointestinal Defects And Immunodeficiency Syndrome 2 |
|
Ataxia, Head titubation, Kyphosis, Optic atrophy, Bronchiectasis, Dysmetria, Knee flexion contrac... |
OMIM:619708 |
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly |
|
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl... |
OMIM:617895 |
Thin Ribs-Tubular Bones-Dysmorphism Syndrome |
|
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... |
ORPHA:1506 |
Tracheobronchopathia Osteochondroplastica |
|
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... |
ORPHA:3348 |
Thanatophoric Dysplasia Type 1 |
|
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... |
ORPHA:1860 |
Pseudohypoaldosteronism Type 2 |
|
Hyperkalemia, Abnormal dental enamel morphology, Periodic paralysis, Abnormality of the dentition |
ORPHA:757 |
Baralle-Macken Syndrome |
|
High, narrow palate, Spasticity, Kyphosis, Tapered finger |
OMIM:619255 |
Myhre Syndrome |
|
Brachydactyly, Narrow mouth, Submucous cleft hard palate, Abnormal rib morphology, Gingival cleft... |
ORPHA:2588 |
Autosomal Dominant Hyper-Ige Syndrome |
|
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... |
ORPHA:2314 |
Primary Ciliary Dyskinesia |
|
Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho... |
ORPHA:244 |
Spondylocarpotarsal Synostosis Syndrome |
|
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... |
OMIM:272460 |
Osteogenesis Imperfecta, Type Xvii |
|
Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Dentinogenesis imperfecta, Hip dislocation,... |
OMIM:616507 |
Autosomal Recessive Spastic Paraplegia Type 75 |
|
Distal lower limb amyotrophy, Titubation |
ORPHA:459056 |
Achondrogenesis, Type Ii |
|
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... |
OMIM:200610 |
Glycogen Storage Disease Vii |
|
Increased muscle glycogen content, Increased variability in muscle fiber diameter |
OMIM:232800 |
Cleidocranial Dysplasia 1 |
|
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Narrow chest... |
OMIM:119600 |
Sclerosteosis 1 |
|
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly... |
OMIM:269500 |
O'Donnell-Luria-Rodan Syndrome |
|
Kyphosis, Tapered finger |
OMIM:618512 |
Schisis Association |
|
Congenital diaphragmatic hernia, Micromelia, Spina bifida, Tracheoesophageal fistula, Cleft palat... |
ORPHA:63862 |
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations |
|
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati... |
OMIM:143095 |
Pparg-Related Familial Partial Lipodystrophy |
|
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... |
ORPHA:79083 |
Microphthalmia, Lenz Type |
|
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph... |
ORPHA:568 |
Osteogenesis Imperfecta |
|
Abnormality of dental color, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion co... |
ORPHA:666 |
Eiken Syndrome |
|
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... |
OMIM:600002 |
Osteomesopyknosis |
|
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies |
ORPHA:2777 |
10Q22.3Q23.3 Microduplication Syndrome |
|
Abnormal clavicle morphology, Abnormality of the philtrum, Abnormal rib morphology, Abnormality o... |
ORPHA:276422 |
2Q31.1 Microdeletion Syndrome |
|
Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral segm... |
ORPHA:251014 |
Halperin-Birk Syndrome |
|
Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Optic atrophy, Spastic tet... |
OMIM:618651 |
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities |
|
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, ... |
OMIM:618443 |
Native American Myopathy |
|
Skeletal muscle atrophy, Submucous cleft soft palate, Abnormality of skeletal muscle fiber size, ... |
ORPHA:168572 |
Mucopolysaccharidosis Type 3 |
|
Abnormal clavicle morphology, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the ... |
ORPHA:581 |
Myasthenic Syndrome, Congenital, 19 |
|
Barrel-shaped chest, Facial palsy, Spinal rigidity, Pectus carinatum, High palate, Increased vari... |
OMIM:616720 |
Rhizomelic Dysplasia, Ain-Naz Type |
|
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... |
OMIM:619598 |
3C Syndrome |
|
Finger syndactyly, Death in infancy, Recurrent respiratory infections, Intestinal malrotation, Mi... |
ORPHA:7 |
Acrofacial Dysostosis 1, Nager Type |
|
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... |
OMIM:154400 |
Craniorachischisis |
|
Congenital diaphragmatic hernia, Cervical spina bifida, Sirenomelia, Spinal dysraphism, Bifid ste... |
ORPHA:63260 |
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... |
OMIM:171480 |
Hypotonia-Cystinuria Syndrome |
|
Ragged-red muscle fibers, Hypocalcemia, Tented upper lip vermilion, Facial palsy |
OMIM:606407 |
Bruck Syndrome |
|
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis... |
ORPHA:2771 |
Schinzel-Giedion Syndrome |
|
Abnormal clavicle morphology, Short neck, Abnormality of the gingiva, Vocal cord paralysis, Tibia... |
ORPHA:798 |
Cerebrocostomandibular Syndrome |
|
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... |
OMIM:117650 |
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies |
|
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... |
OMIM:602196 |
2P15P16.1 Microdeletion Syndrome |
|
Lower limb spasticity, Recurrent respiratory infections, Sandal gap, Camptodactyly of finger, Fac... |
ORPHA:261349 |
Cole-Carpenter Syndrome |
|
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... |
ORPHA:2050 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... |
OMIM:603387 |
Mosaic Trisomy 8 |
|
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Cleft palate, Nar... |
ORPHA:96061 |
Trisomy 20P |
|
Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Vertebral segment... |
ORPHA:261318 |
Craniofrontonasal Syndrome |
|
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Cleft uppe... |
OMIM:304110 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness |
OMIM:609286 |
Pentalogy Of Cantrell |
|
Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Or... |
ORPHA:1335 |
Cat-Eye Syndrome |
|
Hip dysplasia, Abnormal rib morphology, Anal atresia |
ORPHA:195 |
Pericardial And Diaphragmatic Defect |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum, Hypoxemia, Abnormal st... |
ORPHA:2847 |
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Dental crowding, Hypercalcemia, Tapered finger, Pectus excavatum, Unilateral radial aplasia, Part... |
ORPHA:476126 |
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome |
|
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscle atrophy, ... |
ORPHA:2463 |
Orofaciodigital Syndrome Type 3 |
|
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... |
ORPHA:2752 |
Spondylocostal Dysostosis 4, Autosomal Recessive |
|
Vertebral fusion, Anal stenosis, Neurogenic bladder, Abnormal odontoid process morphology, Block ... |
OMIM:613686 |
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly |
|
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... |
OMIM:616300 |
Craniometadiaphyseal Dysplasia |
|
Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth, Wide anterior fontanel... |
OMIM:269300 |
Osteogenesis Imperfecta, Type Ii |
|
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Bell-shaped thorax, Thin ribs,... |
OMIM:166210 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Open bite, Carious teeth, Kyphosis, Congenital pyloric atresia, Vertebral segmentation defect, Hy... |
ORPHA:2617 |
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency |
|
Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Pectus excavatum, High, narro... |
ORPHA:1900 |
Anaplastic Thyroid Carcinoma |
|
Neoplasm of the lung, Vocal cord paralysis, Tracheoesophageal fistula, Abnormal skeletal muscle m... |
ORPHA:142 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... |
ORPHA:2831 |
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency |
|
Neonatal death, Rhabdomyolysis |
OMIM:602199 |
Osteogenesis Imperfecta, Type Iii |
|
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Tibial bowing, Thin ribs, Slender long bon... |
OMIM:259420 |
Fucosidosis |
|
Decreased muscle mass, Abnormality of the dentition, Kyphosis, Abnormal pyramidal sign, Spastic t... |
ORPHA:349 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Decreased muscle mass, Atrophic muscularis propria, Ra... |
ORPHA:298 |
Difference Of Sex Development-Intellectual Disability Syndrome |
|
Short neck, Kyphosis, Short thorax, Genu valgum, Downturned corners of mouth, Thin vermilion bord... |
ORPHA:2983 |
Antley-Bixler Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Femoral bowing, N... |
ORPHA:83 |
Sjögren-Larsson Syndrome |
|
Abnormal dental enamel morphology, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis... |
ORPHA:816 |
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome |
|
Neurogenic bladder, Optic atrophy, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclonus, ... |
ORPHA:500144 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Skeletal muscle atrophy, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... |
ORPHA:1969 |
Campomelia, Cumming Type |
|
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... |
ORPHA:1318 |
Fryns Syndrome |
|
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Congenital diaphragmatic her... |
ORPHA:2059 |
Hurler Syndrome |
|
Recurrent respiratory infections, Hypoplasia of the femoral head, Coxa valga, Short neck, Hypopla... |
OMIM:607014 |
Pycnodysostosis |
|
Abnormal clavicle morphology, High palate, Narrow chest, Hypoplastic iliac wing, Rhizomelia, Pers... |
ORPHA:763 |
Campomelic Dysplasia |
|
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... |
ORPHA:140 |
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Anterior open-bite malocclusion, Hyponatremia, Abnormal autonomic nervous system physiology, Para... |
ORPHA:83601 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion |
|
Long toe, Overlapping toe, Exaggerated cupid's bow, Diastasis recti, Pectus excavatum, Flexion co... |
ORPHA:254528 |
19P13.12 Microdeletion Syndrome |
|
Short palm, Finger syndactyly, Sandal gap, Short neck, Kyphosis, Hyperlipidemia, Cleft palate, Th... |
ORPHA:254346 |
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak |
|
Hyperkalemia, Hand tremor, Periodic paralysis |
OMIM:609153 |
Gitelman Syndrome |
|
Ataxia, Paralysis, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia |
OMIM:263800 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, High, narrow palate, Clinodactyly, Pectus carinatum, Short philtrum, ... |
ORPHA:464738 |
Normokalemic Periodic Paralysis |
|
Periodic paralysis |
OMIM:170600 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Short neck, Deep philtrum, Knee flexion contracture, Hypertonia, Microdontia, Prominent crus of h... |
OMIM:619194 |
Short-Rib Thoracic Dysplasia 14 With Polydactyly |
|
Aplastic clavicle, Micromelia, Postaxial polydactyly, Congenital diaphragmatic hernia, Accessory ... |
OMIM:616546 |
Cartilage-Hair Hypoplasia |
|
Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of low... |
OMIM:250250 |
Ectodermal Dysplasia-Sensorineural Deafness Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... |
ORPHA:1883 |
Osteopathia Striata With Cranial Sclerosis |
|
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Broad ribs, Sp... |
OMIM:300373 |
Duane-Radial Ray Syndrome |
|
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... |
OMIM:607323 |
Monosomy 9P |
|
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the tarsal bones, Na... |
ORPHA:261112 |
Lateral Meningocele Syndrome |
|
Vertebral fusion, Decreased muscle mass, Tethered cord, Dental crowding, Neurogenic bladder, Shor... |
OMIM:130720 |
2Q37 Microdeletion Syndrome |
|
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,... |
ORPHA:1001 |
Intellectual Disability-Strabismus Syndrome |
|
Rocker bottom foot, Congenital diaphragmatic hernia, Abnormality of the dentition, Short neck, Ac... |
ORPHA:363528 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... |
OMIM:250220 |
Thanatophoric Dysplasia Type 2 |
|
Micromelia, Kyphosis, Short thorax, Aplasia/Hypoplasia of the lungs, Platyspondyly, Narrow chest,... |
ORPHA:93274 |
Rhizomelic Dysplasia, Patterson-Lowry Type |
|
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... |
OMIM:601438 |
Early-Onset Autosomal Dominant Alzheimer Disease |
|
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... |
ORPHA:1020 |
Tetraamelia-Multiple Malformations Syndrome |
|
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Abnormal rib morphology, Opti... |
ORPHA:3301 |
Mucopolysaccharidosis, Type Iiid |
|
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Achilles t... |
OMIM:252940 |
8P23.1 Microdeletion Syndrome |
|
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... |
ORPHA:251071 |
Camptodactyly Syndrome, Guadalajara Type 3 |
|
Sternocleidomastoid amyotrophy, Short neck, Small hand, Abnormal rib morphology, Short foot, Spin... |
ORPHA:488434 |
Combined Oxidative Phosphorylation Deficiency 19 |
|
Increased variability in muscle fiber diameter |
OMIM:615595 |
Genetic Recurrent Myoglobinuria |
|
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... |
ORPHA:99845 |
Laryngotracheoesophageal Cleft Type 4 |
|
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... |
ORPHA:93941 |
Osteogenesis Imperfecta, Type Xvi |
|
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Too... |
OMIM:616229 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Metaphyseal widening, Metatarsus adductu... |
OMIM:182212 |
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly |
|
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... |
OMIM:208500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 14 |
|
Pectus excavatum, Kyphosis, Pectus carinatum, High palate, Narrow chest, Scoliosis |
OMIM:300676 |
Marshall-Smith Syndrome |
|
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... |
OMIM:602535 |
Ichthyosis, Congenital, Autosomal Recessive 2 |
|
Short toe, Everted lower lip vermilion, Short finger, Paralysis |
OMIM:242100 |
Ehlers-Danlos Syndrome, Classic-Like |
|
Proximal amyotrophy, Muscle fiber splitting |
OMIM:606408 |
Shwachman-Diamond Syndrome 1 |
|
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... |
OMIM:260400 |
Tarp Syndrome |
|
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Optic atro... |
OMIM:311900 |
Cantú Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... |
ORPHA:1517 |
Simpson-Golabi-Behmel Syndrome |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, High, narrow palate, Ver... |
ORPHA:373 |
Septopreoptic Holoprosencephaly |
|
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology |
ORPHA:280195 |
Pyknoachondrogenesis |
|
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... |
ORPHA:3003 |
Basal Cell Nevus Syndrome 1 |
|
Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Odontogenic keratocysts of the jaw,... |
OMIM:109400 |
Limb Body Wall Complex |
|
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... |
ORPHA:2369 |
Respiratory Distress Syndrome In Premature Infants |
|
Atelectasis, Pulmonary edema |
OMIM:267450 |
Osteogenesis Imperfecta, Type Viii |
|
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... |
OMIM:610915 |
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked |
|
U-Shaped upper lip vermilion, Kyphoscoliosis, Coxa valga, Tapered finger, Diastema, Protruding to... |
OMIM:301040 |
Mucopolysaccharidosis, Type Ii |
|
Delayed eruption of teeth, Papilledema, Intestinal pseudo-obstruction, Short neck, Kyphosis, Flex... |
OMIM:309900 |
22Q11.2 Deletion Syndrome |
|
Short neck, Abnormal lung lobation, Short philtrum, Hypocalcemia, Arachnodactyly, Abnormal dental... |
ORPHA:567 |
Jaberi-Elahi Syndrome |
|
Appendicular spasticity, Tremor, Kyphosis, Optic atrophy, Dysmetria, Pectus carinatum, Choreoathe... |
OMIM:617988 |
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly |
|
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hamartoma of tongue, P... |
OMIM:263520 |
Cohen Syndrome |
|
Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ... |
ORPHA:193 |
Trisomy 18 |
|
Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Esophageal atresia, Posta... |
ORPHA:3380 |
Stickler Syndrome, Type I |
|
Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard pal... |
OMIM:108300 |
Fetal Alcohol Syndrome |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, V... |
ORPHA:1915 |
Kenny-Caffey Syndrome, Type 1 |
|
Long clavicles, Carious teeth, Thin clavicles, Hypomagnesemia, Small hand, Thin ribs, Short foot,... |
OMIM:244460 |
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development |
|
Cleft palate, Thin ribs, Slender long bone, Arthrogryposis multiplex congenita, Brachydactyly |
OMIM:618265 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Methylmalonic acidemia, Short humerus, Skeletal muscle atrophy, Short femur, Recurrent respirator... |
ORPHA:17 |
Fetal Akinesia Deformation Sequence 1 |
|
Decreased muscle mass, Elbow contracture, Short neck, High, narrow palate, Congenital contracture... |
OMIM:208150 |
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies |
|
Superior rib anomalies, Abnormality of the cervical spine |
OMIM:307500 |
Oculopharyngodistal Myopathy 1 |
|
Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Tremor, Elevated circulating creatine kin... |
OMIM:164310 |
Multiple Endocrine Neoplasia, Type Iib |
|
Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, narrow palate,... |
OMIM:162300 |
Cockayne Syndrome Type 2 |
|
Lower limb spasticity, Ataxia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, ... |
ORPHA:90322 |
Recurrent Respiratory Papillomatosis |
|
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... |
ORPHA:60032 |
Hallermann-Streiff Syndrome |
|
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Choreoathetosis, High palate... |
OMIM:234100 |
Tarp Syndrome |
|
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Pierre-... |
ORPHA:2886 |
Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Thickened ribs, Facial hypotonia, Ataxia, Pneumonia, Short neck, Pectus excava... |
ORPHA:309282 |
Thrombocytopenia-Absent Radius Syndrome |
|
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... |
OMIM:274000 |
Short-Rib Thoracic Dysplasia 20 With Polydactyly |
|
Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... |
OMIM:617925 |
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2 |
|
Vertebral segmentation defect, Abnormal rib morphology, Short neck |
ORPHA:2578 |
Congenital Disorder Of Glycosylation, Type Ig |
|
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the r... |
OMIM:607143 |
Familial Osteodysplasia, Anderson Type |
|
Aplastic clavicle, Missing ribs, Carious teeth, Kyphosis, Abnormal rib morphology, Bifid femur, A... |
ORPHA:2769 |
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency |
|
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A... |
ORPHA:95699 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Increased variability in muscle fiber diameter, Ragged-red muscle fibers |
ORPHA:70595 |
1Q41Q42 Microdeletion Syndrome |
|
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... |
ORPHA:250999 |
X-Linked Hypophosphatemia |
|
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead... |
ORPHA:89936 |
Robinow Syndrome, Autosomal Dominant 3 |
|
Short neck, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery atresia, Short ... |
OMIM:616894 |
Multiple Osteochondromas |
|
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... |
ORPHA:321 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Type 2 muscle fiber atrophy, Proximal amyotrophy |
OMIM:159400 |
Familial Nasal Acilia |
|
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis |
ORPHA:922 |
Chand Syndrome |
|
Short fifth metatarsal, Ataxia, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal ... |
ORPHA:1401 |
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea |
|
Thin upper lip vermilion, Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmo... |
OMIM:620233 |
Monosomy 9Q22.3 |
|
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect... |
ORPHA:77301 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Kyphosis, Deep philtrum,... |
ORPHA:404440 |
Fryns Syndrome |
|
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Prominent fingertip pads, Br... |
OMIM:229850 |
Occipital Horn Syndrome |
|
Short humerus, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decrea... |
OMIM:304150 |
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type) |
|
Skeletal muscle atrophy, Ataxia, Hyperammonemia, Short foot, Type 2 muscle fiber predominance, Ch... |
OMIM:615471 |
Codas Syndrome |
|
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... |
OMIM:600373 |
Ulna And Fibula, Absence Of, With Severe Limb Deficiency |
|
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... |
OMIM:276820 |
Coenzyme Q10 Deficiency, Primary, 1 |
|
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Ragged-red muscle fibers, Myo... |
OMIM:607426 |
Frank-Ter Haar Syndrome |
|
Anterior concavity of thoracic vertebrae, High palate, Short palm, Short phalanx of finger, Wide ... |
OMIM:249420 |
Fibrous Dysplasia Of Bone |
|
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... |
ORPHA:249 |
Lymphangiectasia, Intestinal |
|
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs, Neonatal hypopro... |
OMIM:152800 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Death in infancy, Elevated circulating creatine kinase concentration, Cleft upper lip, Spinal rig... |
OMIM:613150 |
Craniometadiaphyseal Dysplasia, Wormian Bone Type |
|
Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Vertebral arch anomaly, Abno... |
ORPHA:85184 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1 |
|
Anal stenosis, Congenital diaphragmatic hernia, Tremor, Cleft palate, Spasticity, Choreoathetosis... |
OMIM:614080 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Paralysis, Pectus excavatum, Oculomotor apraxia, Spastic paraplegia, ... |
ORPHA:2072 |
Alagille Syndrome |
|
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Abnormal rib morphology, Abnormal f... |
ORPHA:52 |
Gm1-Gangliosidosis, Type I |
|
Death in infancy, Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebra... |
OMIM:230500 |
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome |
|
Vocal cord paralysis, Bronchiectasis |
ORPHA:2375 |
Stickler Syndrome |
|
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Glossoptosis, A... |
ORPHA:828 |
Polymyositis |
|
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elevated circulating creatine kin... |
ORPHA:732 |
Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Irregular ca... |
OMIM:252600 |
Otopalatodigital Syndrome, Type Ii |
|
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... |
OMIM:304120 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Tented upper lip vermilion, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Cleft palate, Pect... |
OMIM:616449 |
Diaphragmatic Hernia 2 |
|
Agenesis of the diaphragm, Congenital diaphragmatic hernia |
OMIM:222400 |
Ellis-Van Creveld Syndrome |
|
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... |
OMIM:225500 |
Kleefstra Syndrome 2 |
|
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis |
OMIM:617768 |
Toxin-Mediated Infectious Botulism |
|
Cerebral palsy, Diaphragmatic paralysis, Paralysis |
ORPHA:230800 |
Arterial Tortuosity Syndrome |
|
Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Pectus excavatum, Pulmonary arter... |
OMIM:208050 |
Cebalid Syndrome |
|
High palate, Congenital diaphragmatic hernia |
OMIM:618774 |
Neuromuscular Oculoauditory Syndrome |
|
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Knee fle... |
OMIM:618733 |
Foodborne Botulism |
|
Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis |
ORPHA:228371 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Sacral dimple, Cleft upper lip, Pectus excavatum, Pyloric stenosis, Kyphosis, H... |
OMIM:610443 |
Coffin-Lowry Syndrome |
|
Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, High palate, Widely s... |
OMIM:303600 |
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati... |
ORPHA:324540 |
X-Linked Intellectual Disability, Snyder Type |
|
Long toe, Decreased muscle mass, Arachnodactyly, Dental crowding, Kyphoscoliosis, Involuntary mov... |
ORPHA:3063 |
Hurler-Scheie Syndrome |
|
Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Contracture of ... |
OMIM:607015 |
Myhre Syndrome |
|
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Cleft l... |
OMIM:139210 |
Aicardi Syndrome |
|
Intestinal polyposis, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Malabsorptio... |
ORPHA:50 |
Donnai-Barrow Syndrome |
|
Wide anterior fontanel, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2143 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... |
ORPHA:254892 |
Autosomal Dominant Popliteal Pterygium Syndrome |
|
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... |
ORPHA:1300 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Asymmetry of t... |
ORPHA:401973 |
White-Sutton Syndrome |
|
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Short neck, Cleft pala... |
OMIM:616364 |
Gm2-Gangliosidosis, Ab Variant |
|
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... |
OMIM:272750 |
Distal Triplication 15Q |
|
Arachnodactyly, Kyphosis, Flexion contracture, Abnormal sternum morphology, Syringomyelia, High p... |
ORPHA:314588 |
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities |
|
Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Optic atrophy, Genu va... |
OMIM:618493 |
Omodysplasia 2 |
|
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Anterior wedging of T11, Fibular ... |
OMIM:164745 |
Radio-Renal Syndrome |
|
Micromelia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology, A... |
ORPHA:3015 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9 |
|
Increased variability in muscle fiber diameter, Muscular dystrophy |
OMIM:616538 |
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome |
|
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck |
ORPHA:2234 |
Aymé-Gripp Syndrome |
|
Thin upper lip vermilion, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Na... |
ORPHA:1272 |
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Hypertonia, Short ... |
OMIM:301044 |
Danon Disease |
|
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... |
OMIM:300257 |
Foxg1 Syndrome Due To 14Q12 Microdeletion |
|
Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip vermilion, Scoliosis, Smoot... |
ORPHA:261144 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Kyphosis, High palate, Short philtrum, Proximal placement of thumb |
OMIM:615433 |
Prader-Willi Syndrome |
|
Syndactyly, Decreased muscle mass, Thin upper lip vermilion, Recurrent respiratory infections, Ca... |
OMIM:176270 |
Shashi-Pena Syndrome |
|
Thin upper lip vermilion, Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion,... |
OMIM:617190 |
Megalocornea-Intellectual Disability Syndrome |
|
Ataxia, Tapered finger, Kyphosis, High palate, Short philtrum, Everted lower lip vermilion, Scoli... |
ORPHA:2479 |
Combined Oxidative Phosphorylation Deficiency 55 |
|
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypophosphatemia, Ty... |
OMIM:619743 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4 |
|
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... |
OMIM:619951 |
Donnai-Barrow Syndrome |
|
Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior fontanel, Short sternum, D... |
OMIM:222448 |
Melnick-Needles Syndrome |
|
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... |
OMIM:309350 |
Triosephosphate Isomerase Deficiency |
|
Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Tremor, Kyphosis, Death in adolesce... |
OMIM:615512 |
Non-Functioning Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia |
ORPHA:94080 |
Femur-Fibula-Ulna Complex |
|
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... |
ORPHA:2019 |
Vici Syndrome |
|
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Elevated circula... |
OMIM:242840 |
Noonan Syndrome 14 |
|
Scapular winging, Short neck, Pectus excavatum, High, narrow palate, Kyphosis, Pectus carinatum, ... |
OMIM:619745 |
Kagami-Ogata Syndrome |
|
Pursed lips, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Bell-shaped thorax, Broad p... |
ORPHA:254519 |
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies |
|
Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Spre... |
OMIM:601076 |
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome |
|
Abnormal rib morphology, Micromelia |
ORPHA:2772 |
Marden-Walker Syndrome |
|
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, C... |
ORPHA:2461 |
Premature Aging Syndrome, Penttinen Type |
|
Delayed eruption of teeth, Brachydactyly, Narrow philtrum, Tibial bowing, Thin ribs, Slender long... |
OMIM:601812 |
Subaortic Stenosis-Short Stature Syndrome |
|
Short neck, Kyphosis, Scoliosis, Microdontia, Abnormal circulating lipid concentration, Synostosi... |
ORPHA:3191 |
Gracile Bone Dysplasia |
|
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Ankyloglossia, B... |
OMIM:602361 |
Cutis Laxa, Autosomal Recessive, Type Ia |
|
Recurrent respiratory infections, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavat... |
OMIM:219100 |
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor |
|
Sacral dimple, Pulmonary cyst, Pectus excavatum, Kyphosis, Wide anterior fontanel |
OMIM:618272 |
Holoprosencephaly |
|
Congenital diaphragmatic hernia, Short neck, Deep philtrum, Chorea, Abnormal form of the vertebra... |
ORPHA:2162 |
Marfanoid-Progeroid-Lipodystrophy Syndrome |
|
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Pectus excavatum, Long... |
OMIM:616914 |
Pagod Syndrome |
|
Abnormal clavicle morphology, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Op... |
ORPHA:991 |
Trisomy 9P |
|
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... |
ORPHA:236 |
Turnpenny-Fry Syndrome |
|
Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downturned corners of mouth,... |
OMIM:618371 |
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome |
|
Hypertriglyceridemia, Dental crowding, Kyphosis, Scoliosis, Narrow mouth, Joint contracture |
OMIM:615381 |
Xylt1-Cdg |
|
Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, Short femor... |
ORPHA:370930 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Syndactyly, Hyperextensibility of the finger joints, Broad clavicles, Aplasia/Hypoplasia of the m... |
OMIM:151050 |
Catel-Manzke Syndrome |
|
Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uv... |
OMIM:616145 |
Microcephalic Osteodysplastic Primordial Dwarfism, Type I |
|
Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... |
OMIM:210710 |
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome |
|
Hyperlordosis, Short toe, Kyphosis, Brachydactyly |
ORPHA:3085 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type |
|
Kyphosis, Ataxia, Scoliosis |
OMIM:300861 |
Kabuki Syndrome |
|
Abnormal dental morphology, Congenital diaphragmatic hernia, Lip pit, Abnormality of the dentitio... |
ORPHA:2322 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babinski sign, Ragged... |
OMIM:614924 |
Autosomal Recessive Spastic Paraplegia Type 35 |
|
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Optic atrophy, Spastic para... |
ORPHA:171629 |
Vacterl Association, X-Linked, With Or Without Hydrocephalus |
|
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... |
OMIM:314390 |
Osteogenesis Imperfecta, Type Xviii |
|
Bowing of the long bones, Abnormality of the dentition, Femoral bowing, Thin ribs, Biconcave vert... |
OMIM:617952 |
Focal Dermal Hypoplasia |
|
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... |
OMIM:305600 |
Paget Disease Of Bone 5, Juvenile-Onset |
|
Barrel-shaped chest, Short humerus, Bowing of the long bones, Kyphosis, Hydroxyprolinemia, Latera... |
OMIM:239000 |
Cono-Spondylar Dysplasia |
|
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphys... |
ORPHA:420794 |
Pseudoaminopterin Syndrome |
|
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Postaxial polydactyly, Pectu... |
ORPHA:221120 |
Surfactant Metabolism Dysfunction, Pulmonary, 3 |
|
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... |
OMIM:610921 |
Cerebrofaciothoracic Dysplasia |
|
Cleft upper lip, Short neck, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segme... |
ORPHA:1394 |
Simpson-Golabi-Behmel Syndrome, Type 1 |
|
Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation... |
OMIM:312870 |
Distal 16P11.2 Microdeletion Syndrome |
|
Aganglionic megacolon, Arachnodactyly, Kyphosis, Hyperuricemia, Narrow mouth |
ORPHA:261222 |
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome |
|
Kyphosis, Platyspondyly |
ORPHA:2786 |
Glioblastoma |
|
Paralysis |
ORPHA:360 |
Cole-Carpenter Syndrome 2 |
|
Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, High palate, Narrow iliac wing, Dentinogene... |
OMIM:616294 |
Serkal Syndrome |
|
Malrotation of small bowel, Orofacial cleft, Pulmonary hypoplasia, Congenital diaphragmatic hernia |
ORPHA:139466 |
Postencephalitic Parkinsonism |
|
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... |
ORPHA:97349 |
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis |
|
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tetraplegia, Myoclonus, Pulmonar... |
OMIM:618278 |
Whim Syndrome |
|
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... |
ORPHA:51636 |
Thyrotoxic Periodic Paralysis, Susceptibility To, 2 |
|
Tremor, Hypokalemia, Periodic paralysis |
OMIM:613239 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Narrow chest, In... |
OMIM:213980 |
Harrod Syndrome |
|
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird... |
ORPHA:2115 |
Zttk Syndrome |
|
Unilateral lung agenesis, Abnormality of the dentition, Kyphosis, Flexion contracture, Rib fusion... |
OMIM:617140 |
Kearns-Sayre Syndrome |
|
Ragged-red muscle fibers |
OMIM:530000 |
Lowry-Maclean Syndrome |
|
Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow palate, Pyloric ... |
ORPHA:2409 |
Osteogenesis Imperfecta, Type Vii |
|
Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M... |
OMIM:610682 |
Koolen-De Vries Syndrome |
|
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... |
ORPHA:96169 |
Laryngeal Abductor Paralysis |
|
Cyanosis, Vocal cord paralysis, Talipes equinovarus |
OMIM:150260 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Ataxia, Cyanosis, Optic neuropathy,... |
OMIM:252010 |
Mullegama-Klein-Martinez Syndrome |
|
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,... |
OMIM:301022 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening ... |
OMIM:146510 |
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans |
|
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibial bowing, Femoral bowing... |
OMIM:616482 |
Iniencephaly |
|
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Spina bifida, Hyperlordosis, Abs... |
ORPHA:63259 |
Wolf-Hirschhorn Syndrome |
|
Decreased muscle mass, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners... |
OMIM:194190 |
Srd5A3-Cdg |
|
Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Oligodontia |
ORPHA:324737 |
Coffin-Siris Syndrome 1 |
|
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Gait ataxia, Sh... |
OMIM:135900 |
Ferguson-Bonni Neurodevelopmental Syndrome |
|
Pectus excavatum, High palate, Congenital diaphragmatic hernia |
OMIM:619699 |
Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Thoracic scoliosis, Equinus calcaneus, Shoulder dislocation, High palate, Periodontitis, Prematur... |
ORPHA:536532 |
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome |
|
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... |
ORPHA:3042 |
Spondyloenchondrodysplasia |
|
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... |
ORPHA:1855 |
Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... |
ORPHA:2907 |
Pelizaeus-Merzbacher Disease |
|
Recurrent respiratory infections, Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Sp... |
ORPHA:702 |
Spondylometaphyseal Dysplasia, Sedaghatian Type |
|
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... |
ORPHA:93317 |
Kbg Syndrome |
|
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Rib fusion, Ve... |
OMIM:148050 |
Hyperkalemic Periodic Paralysis |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:170500 |
Glycogen Storage Disease Xii |
|
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting |
OMIM:611881 |
Ulbright-Hodes Syndrome |
|
Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpal, Humeroradia... |
ORPHA:3404 |
Myotonic Dystrophy 2 |
|
Weakness of facial musculature, Type 2 muscle fiber atrophy, Generalized amyotrophy, Sternocleido... |
OMIM:602668 |
Short-Rib Thoracic Dysplasia 21 Without Polydactyly |
|
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... |
OMIM:619479 |
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... |
OMIM:619557 |
Schinzel-Giedion Midface Retraction Syndrome |
|
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... |
OMIM:269150 |
Rift Valley Fever |
|
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Gingival bleeding, Decerebrate rigidity |
ORPHA:319251 |
Pseudohypoaldosteronism, Type Iia |
|
Periodic hyperkalemic paralysis, Hyperkalemia |
OMIM:145260 |
7Q11.23 Microduplication Syndrome |
|
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Congenital diaphragmatic hernia,... |
ORPHA:96121 |
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation |
|
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia |
ORPHA:254534 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6 |
|
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy |
OMIM:613154 |
Glossopharyngeal Neuralgia |
|
Cranial nerve compression, Vocal cord paralysis, Abnormal glossopharyngeal nerve morphology, Tong... |
ORPHA:221098 |
Chromosome 15Q25 Deletion Syndrome |
|
Tented upper lip vermilion, Congenital diaphragmatic hernia, Cleft upper lip, Pectus excavatum, L... |
OMIM:614294 |
Lujo Hemorrhagic Fever |
|
Resting tremor, Atelectasis, Elevated circulating C-reactive protein concentration |
ORPHA:319213 |
Weill-Marchesani Syndrome 2 |
|
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Elbow flexion contracture, Narrow palat... |
OMIM:608328 |
Mucopolysaccharidosis, Type Iiic |
|
Thickened ribs, Kyphoscoliosis, Recurrent upper respiratory tract infections, Ovoid thoracolumbar... |
OMIM:252930 |
Inhalational Botulism |
|
Xerostomia, Paralysis |
ORPHA:254504 |
Unilateral Polymicrogyria |
|
Cyanosis, Involuntary movements, Pulmonary arteriovenous malformation, Spastic tetraplegia, Hemip... |
ORPHA:268943 |
Autosomal Recessive Malignant Osteopetrosis |
|
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Premature ... |
ORPHA:667 |
Robinow Syndrome |
|
Dental crowding, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistenc... |
ORPHA:97360 |
White-Sutton Syndrome |
|
Thin upper lip vermilion, Incoordination, Facial hypotonia, Congenital diaphragmatic hernia, Shor... |
ORPHA:468678 |
Osteogenesis Imperfecta, Type Xv |
|
Platyspondyly, Scoliosis, Thin ribs |
OMIM:615220 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Facial palsy, Abnormal m... |
ORPHA:2658 |
Femoral-Facial Syndrome |
|
Short fourth metatarsal, Hemivertebrae, Dysplastic sacrum, Humeroradial synostosis, Rib fusion, A... |
OMIM:134780 |
Developmental Delay With Or Without Dysmorphic Facies And Autism |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Cleft lip, 2-3 toe cutaneous syndactyl... |
OMIM:618454 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Allodynia |
OMIM:603041 |
Congenital Disorder Of Glycosylation, Type Il |
|
Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum |
OMIM:608776 |
Alexander Disease |
|
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... |
ORPHA:58 |
Zygomycosis |
|
Gastritis, Atelectasis, Pneumothorax, Enterocolitis, Pulmonary infiltrates, Acute infectious pneu... |
ORPHA:73263 |
Pontocerebellar Hypoplasia, Type 17 |
|
Kyphosis, Spastic tetraplegia, Limb hypertonia |
OMIM:619909 |
Diamond-Blackfan Anemia 10 |
|
Cleft palate, Supernumerary ribs, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia |
OMIM:613309 |
C Syndrome |
|
Death in infancy, Sacral dimple, Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Pec... |
ORPHA:1308 |
Ciliary Dyskinesia, Primary, 1 |
|
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis |
OMIM:244400 |
Neutral Lipid Storage Myopathy |
|
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... |
ORPHA:98908 |
Intellectual Developmental Disorder, X-Linked, Syndromic 33 |
|
Thin upper lip vermilion, Sacral dimple, Ataxia, Short neck, Pectus excavatum, High, narrow palat... |
OMIM:300966 |
Mandibuloacral Dysplasia Progeroid Syndrome |
|
Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Pectus exc... |
OMIM:619127 |
Cranioectodermal Dysplasia 1 |
|
High, narrow palate, High palate, Narrow chest, Widely spaced teeth, Hypocalcemia, Microdontia, A... |
OMIM:218330 |
Lateral Meningocele Syndrome |
|
Dental crowding, Short neck, Pectus excavatum, High, narrow palate, Hyperlordosis, Kyphosis, Abno... |
ORPHA:2789 |
Thakker-Donnai Syndrome |
|
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned... |
ORPHA:1780 |
Marfan Syndrome |
|
Pulmonary artery dilatation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Dental... |
ORPHA:558 |
Pheochromocytoma/Paraganglioma Syndrome 2 |
|
Vocal cord paralysis |
OMIM:601650 |
Congenital Myopathy 13 |
|
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Flexi... |
OMIM:255995 |
Cerebrocostomandibular Syndrome |
|
Death in infancy, Spina bifida, Kyphosis, Posterior rib gap, Cleft palate, Bell-shaped thorax, Gl... |
ORPHA:1393 |
Alg1-Cdg |
|
Kyphosis, Protein-losing enteropathy, Hypoalbuminemia, Scoliosis |
ORPHA:79327 |
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome |
|
Finger syndactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, Vertebral segmen... |
ORPHA:1005 |
Congenital Disorder Of Glycosylation, Type Ia |
|
Thin upper lip vermilion, Villous atrophy, Death in infancy, Ataxia, Tremor, Kyphosis, Flexion co... |
OMIM:212065 |
Pituitary Adenoma 4, Acth-Secreting |
|
Skeletal muscle atrophy, Kyphosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression... |
OMIM:219090 |
Renal Tubular Acidosis Iii |
|
Hypokalemia, Periodic paralysis |
OMIM:267200 |
Porphyria, Acute Intermittent |
|
Paralytic ileus, Respiratory paralysis, Paralysis |
OMIM:176000 |
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis |
|
Cleft palate, Bifid uvula, Congenital diaphragmatic hernia |
OMIM:606164 |
Singleton-Merten Syndrome 1 |
|
Hypoplastic distal radial epiphyses, Eruption failure, Muscle fiber atrophy, Expanded metacarpals... |
OMIM:182250 |
Wiedemann-Rautenstrauch Syndrome |
|
Short neck, Flexion contracture, Downturned corners of mouth, Hypertonia, Narrow chest, Generaliz... |
OMIM:264090 |
Non-Syndromic Posterior Hypospadias |
|
Congenital diaphragmatic hernia |
ORPHA:95706 |
16Q24.3 Microdeletion Syndrome |
|
Optic nerve hypoplasia, Proximal placement of thumb, Kyphosis, Wide mouth, Hip dysplasia, High pa... |
ORPHA:261250 |
Occipital Horn Syndrome |
|
High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large ... |
ORPHA:198 |
Marfanoid Habitus With Situs Inversus |
|
Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Pectus carinatum, Scoliosis |
OMIM:609008 |
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome |
|
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... |
ORPHA:2878 |
Cowden Syndrome 5 |
|
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... |
OMIM:615108 |
Encephalocraniocutaneous Lipomatosis |
|
Paralysis, Rigidity, Abnormal cartilage morphology, Tetraplegia, Hemiparesis, Hypertonia, Hemiple... |
ORPHA:2396 |
Gitelman Syndrome |
|
Paralysis, Rhabdomyolysis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia |
ORPHA:358 |
Progressive Non-Infectious Anterior Vertebral Fusion |
|
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... |
ORPHA:2062 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Speech apraxia, Dental crowding, Ataxia, Kyphoscoliosis, Tremor, High, narrow pala... |
OMIM:300967 |
Digeorge Syndrome |
|
Pilonidal sinus, High, narrow palate, Atelectasis, Recurrent pneumonia, Cleft palate, Hemiparesis... |
OMIM:188400 |
Atelosteogenesis Type Iii |
|
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... |
ORPHA:56305 |
Aicardi Syndrome |
|
Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft upper lip, Hiatus hernia, Spina... |
OMIM:304050 |
Cranioectodermal Dysplasia 2 |
|
Short neck, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Syndactyly,... |
OMIM:613610 |
Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Thick upper lip vermilion, Optic neuropathy, Increased intervertebral spac... |
OMIM:619727 |
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome |
|
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... |
ORPHA:85199 |
Cog1-Cdg |
|
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg... |
ORPHA:263508 |
Lymphangioleiomyomatosis |
|
Recurrent respiratory infections, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary infiltrates... |
ORPHA:538 |
Mucopolysaccharidosis, Type Iiia |
|
Recurrent upper respiratory tract infections, Thickened ribs, Ovoid thoracolumbar vertebrae, Scol... |
OMIM:252900 |
Baller-Gerold Syndrome |
|
Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Abnormal vertebra... |
OMIM:218600 |
Distal Deletion 15Q |
|
Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormality of the dentition, 2-3 toe ... |
ORPHA:1596 |
Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... |
ORPHA:2908 |
Cowden Syndrome 6 |
|
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... |
OMIM:615109 |
Van Esch-O'Driscoll Syndrome |
|
Sacral dimple, Esophageal atresia, Pulmonary artery stenosis, Unilateral vocal cord paralysis, Tr... |
OMIM:301030 |
Esophageal Atresia |
|
Vocal cord paresis, Recurrent respiratory infections, Barrett esophagus, Cyanosis, Intestinal mal... |
ORPHA:1199 |
Hajdu-Cheney Syndrome |
|
Short neck, Pectus carinatum, Downturned corners of mouth, Periodontitis, Partial absence of toe,... |
ORPHA:955 |
Classic Homocystinuria |
|
Arachnodactyly, Dental crowding, Pectus excavatum, Kyphosis, Hemiplegia/hemiparesis, Esophageal v... |
ORPHA:394 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Skeletal muscle atrophy, Kyphosis |
OMIM:219080 |
Nestor-Guillermo Progeria Syndrome |
|
Dental crowding, Flexion contracture, Dental malocclusion, Thin ribs, Rib osteolysis, Progressive... |
OMIM:614008 |
Mitochondrial Dna-Associated Leigh Syndrome |
|
Ataxia, Chorea, Ragged-red muscle fibers, Optic atrophy, Low plasma citrulline, Gait ataxia, Hype... |
ORPHA:255210 |
Weill-Marchesani Syndrome 1 |
|
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, Scoliosis, Broad phalanges of the han... |
OMIM:277600 |
Seckel Syndrome 9 |
|
Recurrent respiratory infections, Pulmonary artery hypoplasia, Talipes equinovarus, Congenital di... |
OMIM:616777 |
Cardiospondylocarpofacial Syndrome |
|
Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphysis, Short foot... |
OMIM:157800 |
Mycophenolate Mofetil Embryopathy |
|
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic verte... |
ORPHA:268249 |
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies |
|
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... |
OMIM:271520 |
Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Spinal cord com... |
ORPHA:217085 |
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs |
|
Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lu... |
OMIM:611812 |
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome |
|
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... |
ORPHA:2519 |
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion |
|
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis |
ORPHA:500055 |
Cardiofacioneurodevelopmental Syndrome |
|
Cleft lip, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly |
OMIM:619123 |
Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Spinal cord com... |
ORPHA:217093 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachn... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachn... |
ORPHA:363958 |
Choreoacanthocytosis |
|
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... |
ORPHA:2388 |
Primary Triglyceride Deposit Cardiomyovasculopathy |
|
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... |
ORPHA:565612 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Patellar aplasia, Abnormal rib m... |
ORPHA:2554 |
Cockayne Syndrome |
|
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Intention t... |
ORPHA:191 |
Ataxia-Telangiectasia-Like Disorder 2 |
|
Joint contracture, Ataxia, Congenital diaphragmatic hernia |
OMIM:615919 |
Mucolipidosis Type Ii |
|
Hip contracture, Recurrent respiratory infections, Diastasis recti, Kyphosis, Hip dislocation, Gi... |
ORPHA:576 |
Matthew-Wood Syndrome |
|
Intrauterine growth retardation, Congenital diaphragmatic hernia |
ORPHA:2470 |
1P36 Deletion Syndrome |
|
11 pairs of ribs, Camptodactyly of finger, Pyloric stenosis, Kyphosis, Hemiplegia/hemiparesis, Ri... |
ORPHA:1606 |
Microphthalmia, Syndromic 9 |
|
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil... |
OMIM:601186 |
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type) |
|
Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis |
OMIM:203700 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, Genu valgum, Hip dysplas... |
OMIM:301066 |
15Q14 Microdeletion Syndrome |
|
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... |
ORPHA:261190 |
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis |
|
Elevated circulating C-reactive protein concentration, Fused cervical vertebrae, Pulmonary fibros... |
OMIM:612852 |
Acro-Renal-Ocular Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... |
ORPHA:959 |
Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Recurrent pneumonia, Bilateral talipes equinovaru... |
OMIM:609465 |
Mosaic Trisomy 20 |
|
Vertebral fusion, Down-sloping shoulders, Cleft lip, Abnormal spinal cord morphology, Kyphosis, S... |
ORPHA:1724 |
Hyperparathyroidism, Transient Neonatal |
|
Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Short long bone, Short ... |
OMIM:618188 |
Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Downturned ... |
ORPHA:199 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Thin upper lip vermilion, Recurrent respiratory infections, Kyphosis, Flexion contracture, Xerost... |
ORPHA:398069 |
Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pe... |
ORPHA:464306 |
Osteopetrosis, Autosomal Recessive 3 |
|
Periodic hypokalemic paresis, Optic nerve compression, Dental malocclusion, Diaphyseal sclerosis |
OMIM:259730 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Short neck, Cleft lip, Kyphosis, Hemivertebrae, Narrow palate, Cleft palate, Contracture of the p... |
OMIM:618223 |
Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Esophageal atresia, ... |
OMIM:206900 |
Cdags Syndrome |
|
Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, Short ribs, Short clavicles,... |
OMIM:603116 |
Oligomeganephronia |
|
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Optic disc coloboma, Elevated circul... |
ORPHA:2260 |
Mucopolysaccharidosis, Type Iiib |
|
Thickened ribs, Ovoid thoracolumbar vertebrae, Recurrent upper respiratory tract infections |
OMIM:252920 |
Cowden Syndrome 1 |
|
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... |
OMIM:158350 |
Melas |
|
Abnormal central motor function, Intestinal pseudo-obstruction, Ataxia, Ragged-red muscle fibers,... |
ORPHA:550 |
Primrose Syndrome |
|
Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Downturned corners of mou... |
OMIM:259050 |
Degcags Syndrome |
|
Vocal cord paralysis, High palate, Diaphragmatic eventration, Syndactyly, Hiatus hernia, Short th... |
OMIM:619488 |
Cowden Syndrome |
|
Ataxia, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High ... |
ORPHA:201 |
Opitz Gbbb Syndrome |
|
Natal tooth, Congenital diaphragmatic hernia, Cleft lip, Tracheoesophageal fistula, Cleft palate,... |
ORPHA:2745 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Thin upper lip vermilion, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ... |
OMIM:618050 |
Williams Syndrome |
|
Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse, Abnormal form of the... |
ORPHA:904 |
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome |
|
Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, Gait ataxia, As... |
ORPHA:457359 |
Micro Syndrome |
|
Kyphosis, Optic atrophy, High palate, Short philtrum, Scoliosis, Spasticity |
ORPHA:2510 |
Sporadic Pheochromocytoma/Secreting Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia |
ORPHA:276621 |
Hydrolethalus Syndrome 1 |
|
Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o... |
OMIM:236680 |
Developmental Delay, Impaired Speech, And Behavioral Abnormalities |
|
Back pain, Clonus, High, narrow palate, Abnormal curvature of the vertebral column, Hypertonia, S... |
OMIM:619475 |
Osteopetrosis, Autosomal Recessive 7 |
|
Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Optic atrophy, Dea... |
OMIM:612301 |
Vater/Vacterl Association |
|
Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Esophageal atresia, Hypoplas... |
OMIM:192350 |
Dextrocardia |
|
Congenital hip dislocation, Intestinal malrotation, Abnormal lung lobation, Abnormal rib morpholo... |
ORPHA:1666 |
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short t... |
ORPHA:464311 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Spinal dysraphism, Unilateral ... |
OMIM:617660 |
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Rib fusion, Clinodactyly of the 5th f... |
ORPHA:544488 |
Wrinkly Skin Syndrome |
|
Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Hypoplasia of the muscul... |
OMIM:278250 |
Charge Syndrome |
|
Delayed eruption of teeth, Facial palsy, Cleft upper lip, Abnormal soft palate morphology, Abnorm... |
ORPHA:138 |
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2 |
|
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... |
OMIM:617821 |
Rett Syndrome, Congenital Variant |
|
Thin upper lip vermilion, Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, S... |
OMIM:613454 |
Denys-Drash Syndrome |
|
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia |
OMIM:194080 |
Pallister-Killian Syndrome |
|
Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short ne... |
OMIM:601803 |
Cockayne Syndrome A |
|
Hip contracture, Ataxia, Delayed eruption of primary teeth, Abnormal auditory evoked potentials, ... |
OMIM:216400 |
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features |
|
Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Clinodactyly |
OMIM:609944 |
Cutis Laxa, Autosomal Recessive, Type Ib |
|
Pulmonary artery dilatation, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum, H... |
OMIM:614437 |
Relapsing Polychondritis |
|
Chondritis of pinna, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis |
ORPHA:728 |
Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Downturned corners of mouth, Hypoplastic vertebral bodies, Hypertonia, Short philtrum, Pr... |
ORPHA:3455 |
Ulnar-Mammary Syndrome |
|
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... |
OMIM:181450 |
Thoracic Outlet Syndrome |
|
Abnormal rib morphology |
ORPHA:97330 |
Acheiropodia |
|
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... |
ORPHA:931 |
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome |
|
Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy,... |
ORPHA:2232 |
Alkaptonuria |
|
Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... |
OMIM:203500 |
Acheiropody |
|
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... |
OMIM:200500 |
Acromegaly |
|
Cerebral palsy, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyphosis, Thick lower... |
ORPHA:963 |
Williams-Beuren Syndrome |
|
Rectal prolapse, Flexion contracture, Vocal cord paralysis, Clinodactyly of the 5th finger, Micro... |
OMIM:194050 |
Alstrom Syndrome |
|
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the dentition, Kyph... |
OMIM:203800 |
Granulomatous Disease, Chronic, X-Linked |
|
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Pleural effusion |
OMIM:306400 |
Somatomammotropinoma |
|
Cerebral palsy, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyphosis, Thick lower... |
ORPHA:314769 |
Atelis Syndrome 2 |
|
Sacral dimple, Diastema, Kyphosis, Thick lower lip vermilion, Dysmetria, Downturned corners of mo... |
OMIM:620185 |
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome |
|
High palate, Thin ribs |
ORPHA:456328 |
Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Clinodactyly, ... |
OMIM:613406 |
Short-Rib Thoracic Dysplasia 15 With Polydactyly |
|
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... |
OMIM:617088 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Abnormal lung lobation, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula... |
OMIM:607872 |
Mgat2-Cdg |
|
Dental crowding, Pectus excavatum, Kyphosis, Recurrent upper and lower respiratory tract infectio... |
ORPHA:79329 |
Cockayne Syndrome Type 3 |
|
Skeletal muscle atrophy, Optic disc pallor, Neurogenic bladder, Carious teeth, Kyphosis, Flexion ... |
ORPHA:90324 |
Charge Syndrome |
|
Hemivertebrae, Hand monodactyly, Hypocalcemia, Pulmonary artery atresia, Hypoplasia of the ulna, ... |
OMIM:214800 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Dental crowding, Kyphoscoliosis,... |
OMIM:225400 |
Osteogenesis Imperfecta, Type Iv |
|
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth, straightenin... |
OMIM:166220 |
Pallister-Hall Syndrome |
|
Hemivertebrae, Abnormal lung lobation, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accesso... |
ORPHA:672 |
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism |
|
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long... |
OMIM:619244 |
Hereditary Pheochromocytoma-Paraganglioma |
|
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia |
ORPHA:29072 |
Perlman Syndrome |
|
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra... |
OMIM:267000 |
African Trypanosomiasis |
|
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... |
ORPHA:3385 |
Distal Renal Tubular Acidosis |
|
Hypokalemia, Paralysis |
ORPHA:18 |
Aspartylglucosaminuria |
|
Recurrent respiratory infections, Kyphosis, Thick lower lip vermilion, Spasticity, Wide mouth, Ma... |
OMIM:208400 |
Mend Syndrome |
|
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hyperto... |
OMIM:300960 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Hypertyrosinemia, Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Spasticity |
OMIM:124000 |
Cockayne Syndrome B |
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Ataxia, Delayed eruption of primary teeth, Abnormal auditory evoked potentials, Carious teeth, De... |
OMIM:133540 |
Proteus Syndrome |
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Decreased muscle mass, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the v... |
ORPHA:744 |
Feingold Syndrome 1 |
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Jejunal atresia, Short thumb, Short toe, 4-5 toe syndactyly, Esophageal atresia, 2-3 toe syndacty... |
OMIM:164280 |
Neuropathy, Hereditary Sensory And Autonomic, Type Vi |
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Bilateral vocal cord paresis, Flexion contracture, High palate, Talipes equinovarus, Hand clenchi... |
OMIM:614653 |
Osteopetrosis With Renal Tubular Acidosis |
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Elevated circulating creatine kinase concentration, Persistence of primary teeth, Pectus excavatu... |
ORPHA:2785 |
Pseudoxanthoma Elasticum, Forme Fruste |
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High, narrow palate, Kyphosis, Abnormal sternum morphology, High palate, Scoliosis |
OMIM:177850 |
Intellectual Developmental Disorder, Autosomal Dominant 54 |
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Lower limb spasticity, Ataxia, Dental crowding, Delayed eruption of primary teeth, Vocal cord par... |
OMIM:617799 |
Steinert Myotonic Dystrophy |
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Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Hypercholeste... |
ORPHA:273 |
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia |
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Dental crowding, Kyphosis, Increased femoral anteversion, High palate, Thick vermilion border, Sc... |
OMIM:619005 |
Tetraamelia Syndrome 1 |
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Congenital diaphragmatic hernia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft pala... |
OMIM:273395 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Unila... |
ORPHA:500150 |
Thoracoabdominal Syndrome |
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Cleft palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft upper lip |
OMIM:313850 |
Tyrosinemia, Type I |
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Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Periodic paralysis, Paral... |
OMIM:276700 |
Lowe Oculocerebrorenal Syndrome |
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Camptodactyly of finger, Elevated circulating creatine kinase concentration, Elevated maternal se... |
OMIM:309000 |
Osteoporosis-Pseudoglioma Syndrome |
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Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... |
OMIM:259770 |
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome |
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Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal interphalangeal joint ... |
ORPHA:83617 |
Diets-Jongmans Syndrome |
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Thin upper lip vermilion, Congenital diaphragmatic hernia, Wide mouth, Hip dysplasia, Duodenal at... |
OMIM:618846 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Natal ... |
ORPHA:1662 |
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation |
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Arachnodactyly, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, High palate, Scoliosis |
OMIM:617011 |
Pheochromocytoma/Paraganglioma Syndrome 3 |
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Vocal cord paralysis |
OMIM:605373 |
Pseudo-Torch Syndrome 2 |
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Pleural effusion, Thin ribs |
OMIM:617397 |
Viss Syndrome |
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Chronic gastritis, High, narrow palate, Pectus carinatum, High palate, Broad uvula, Emphysema, Bi... |
OMIM:619472 |
Yunis-Varon Syndrome |
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Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Short phi... |
OMIM:216340 |
Ciliary Dyskinesia, Primary, 20 |
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Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... |
OMIM:615067 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Hallux valgus, Sacral dimple, Ataxia, Cleft soft palate, Tapered finger, Pectus excavatum, Abnorm... |
ORPHA:268261 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
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Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... |
ORPHA:99413 |
Mosaic Monosomy X |
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Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... |
ORPHA:99228 |
Monosomy X |
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Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... |
ORPHA:99226 |
Turner Syndrome |
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Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... |
ORPHA:881 |
Meacham Syndrome |
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Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas... |
ORPHA:3097 |
Pheochromocytoma/Paraganglioma Syndrome 1 |
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Vocal cord paralysis |
OMIM:168000 |
Alagille Syndrome 1 |
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Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Hypertriglyceridemia, Abnormal rib ... |
OMIM:118450 |
Heart Defects, Congenital, And Other Congenital Anomalies |
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Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Aplasia of th... |
OMIM:600001 |
Sotos Syndrome |
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Tremor, No permanent dentition, Flexion contracture, Abnormal vertebral morphology, 2-3 toe synda... |
ORPHA:821 |
Coccidioidomycosis |
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Pneumonia, Pulmonary infiltrates, Abnormal long bone morphology, Abnormality of the vertebral col... |
ORPHA:228123 |
Idiopathic Juvenile Osteoporosis |
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Kyphosis, Vertebral compression fracture |
ORPHA:85193 |
Pineoblastoma |
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Papilledema, Paralysis |
ORPHA:251909 |
Igg4-Related Thyroid Disease |
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Sialadenitis, Vocal cord paralysis, Hypocalcemia |
ORPHA:64744 |
17Q11 Microdeletion Syndrome |
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Abnormal central motor function, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal stroma tu... |
ORPHA:97685 |
Gaucher Disease Type 1 |
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Kyphosis, Vertebral compression fracture, Abnormal pulmonary interstitial morphology, Gingival bl... |
ORPHA:77259 |
Townes-Brocks Syndrome |
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Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Preaxial hand polydactyly, Partial d... |
ORPHA:857 |
Linear Skin Defects With Multiple Congenital Anomalies 1 |
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Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Colonic atresia, Anal atresia |
OMIM:309801 |
Chromosome Xq26.3 Duplication Syndrome |
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Kyphosis, Widely spaced teeth |
OMIM:300942 |
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
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Recurrent respiratory infections, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnorma... |
ORPHA:2273 |
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome |
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Pulmonary artery stenosis, Cervical ribs, Intestinal malrotation, Congenital diaphragmatic hernia |
ORPHA:2255 |
Roberts-Sc Phocomelia Syndrome |
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Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion con... |
OMIM:268300 |
Beckwith-Wiedemann Syndrome |
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Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... |
ORPHA:116 |
Tsh-Secreting Pituitary Adenoma |
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Tremor, Hypokalemia, Periodic hypokalemic paresis |
ORPHA:91347 |
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay |
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Thin upper lip vermilion, Deep philtrum, Congenital diaphragmatic hernia |
OMIM:617641 |
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia |
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Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Scoliosis, Microdontia |
OMIM:619718 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
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Kyphosis |
OMIM:610475 |
Spondyloarthropathy, Susceptibility To, 1 |
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Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intestine |
OMIM:106300 |
Cardiac-Urogenital Syndrome |
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Intestinal malrotation, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous retur... |
OMIM:618280 |
Branchiooculofacial Syndrome |
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Facial palsy, Proximal placement of thumb, Cleft upper lip, Malrotation of colon, Short thumb, Pr... |
OMIM:113620 |
Neurofibromatosis Type 1 |
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Ataxia, Kyphosis, Genu valgum, Slender long bone, Scoliosis, Abnormal hip bone morphology, Genu v... |
ORPHA:636 |
Lymphedema-Distichiasis Syndrome |
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Kyphosis, Chylothorax, Cleft palate, Cleft upper lip |
OMIM:153400 |
Shprintzen Omphalocele Syndrome |
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Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, Anal atresia |
OMIM:182210 |
Microphthalmia With Linear Skin Defects Syndrome |
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Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal rectu... |
ORPHA:2556 |
Ramon Syndrome |
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Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Sco... |
OMIM:266270 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Kyphosis, Scoliosis, Aspiration pneumonia, Achalasia, Ineffective esophageal peristalsis |
OMIM:619482 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
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Kyphosis |
OMIM:610489 |
Alström Syndrome |
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Optic disc pallor, Thoracic scoliosis, Abnormality of dental color, Ataxia, Incoordination, Hyper... |
ORPHA:64 |