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Gene: Hat1 MGI:96013

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Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
histone aminotransferase 1
Synonyms:
KAT1,  2410071B14Rik

Order Alleles

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Hat1 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Hat1 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... OMIM:611225
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Knee flexion contract... ORPHA:401785
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Bronchopulmonary Dysplasia
Respiratory distress, Central apnea, Respiratory failure requiring assisted ventilation, Atelecta... ORPHA:70589
Ciliary Dyskinesia, Primary, 21
Neonatal respiratory distress, Atelectasis, Recurrent pneumonia, Bronchiectasis, Decreased nasal ... OMIM:615294
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Clonus, Babinski sign, Spasti... OMIM:615681
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Scissor gait, Hypertonia, Decreased body weight, Spasticity ORPHA:401805
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Babinsk... OMIM:612335
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Chronic pulmonary obstruction, Bronchiectasis, Chr... OMIM:253240
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Babinski sign, Functional abnormality of ... ORPHA:488594
Asbestos Intoxication
Reduced forced vital capacity, Nonproductive cough, Diffuse reticular or finely nodular infiltrat... ORPHA:2302
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Immunodeficiency 95
Respiratory distress, Recurrent respiratory infections, Ground-glass opacification, Respiratory f... OMIM:619773
Spinal Muscular Atrophy, Type I
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency, Death in childhood OMIM:253300
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Flexion contracture, Dilated cardiomyopathy... OMIM:300718
Spastic Paraplegia 77, Autosomal Recessive
Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Upper limb muscle weakness, Lower ... OMIM:617046
Lethal Osteosclerotic Bone Dysplasia
Respiratory distress, Anteverted nares, Micrognathia, Short neck, Dyspnea, Depressed nasal ridge,... ORPHA:1832
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Lower limb muscle weakness, Hyperlordosis, Quadriceps ... OMIM:620389
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Respiratory insufficiency due to muscle weakness, Flexion contracture, Death in ... OMIM:300717
Xeroderma Pigmentosum, Complementation Group F
Ataxia, Seborrheic keratosis, Tremor, Flexion contracture, Defective DNA repair after ultraviolet... OMIM:278760
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Babinski sign, Ankle clonus, ... OMIM:610250
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridg... OMIM:313420
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Hyperlordosis, Spinal rigidity, Kyphosis, Increased adipose tissue, Proxim... OMIM:617404
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Babinski sign, Spastic paraplegia, Knee flexion contracture, Distal am... OMIM:615043
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Joint laxity, Os odontoideum, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxial inst... OMIM:600561
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Autosomal Dominant Spastic Paraplegia Type 4
Lower limb spasticity, Ataxia, Babinski sign, Ankle clonus, Urinary urgency, Distal amyotrophy, L... ORPHA:100985
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Crazy paving pattern, Apnea, Nodular pattern on pulmonary HRCT, Tachypnea, ... OMIM:610921
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Spastic gait OMIM:612539
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Ciliary dyskinesia, Chronic rhinitis, Cough, Re... OMIM:616726
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Babinski sign, Knee flexion contracture, Poor fine motor coordination,... ORPHA:320370
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... OMIM:615290
Recurrent Respiratory Papillomatosis
Respiratory distress, Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract in... ORPHA:60032
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Chronic sinusitis, Recurrent bronchitis OMIM:300455
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Decreased nasal nitric oxide, Bronchiectasis, Cili... OMIM:615872
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Respiratory distress, Recurrent respiratory infections, Abnormal mucociliary clearance, Atelectas... OMIM:619466
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Babinski sign, Spastic paraplegia, Abnormal pyramidal sign ORPHA:357043
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Barth Syndrome
Abnormal mitochondrial morphology ORPHA:111
Spastic Paraplegia 63, Autosomal Recessive
Skeletal muscle atrophy, Clonus, Babinski sign, Spastic paraplegia, Scissor gait, Hypertonia OMIM:615686
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Congenital Arthrogryposis With Anterior Horn Cell Disease
Micrognathia, Respiratory insufficiency due to muscle weakness, Short neck, Kyphosis, Respiratory... OMIM:611890
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Weak grip, Distal amyotrophy, Distal upper limb amyotrophy, Wrist d... OMIM:619519
Spastic Paraplegia 73, Autosomal Dominant
Prolonged central motor conduction time, Skeletal muscle atrophy, Babinski sign, Spastic paraplegia OMIM:616282
Craniodiaphyseal Dysplasia, Autosomal Dominant
Mandibular prognathia, Craniofacial hyperostosis, Depressed nasal bridge, Cortical sclerosis, Cra... OMIM:122860
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Osteomesopyknosis
Increased bone mineral density, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebra... ORPHA:2777
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Multiple joint contractures, Skeletal muscle atrophy OMIM:611369
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ankle clonus, Fasciculations, Scoliosis, Sp... OMIM:620323
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... OMIM:611067
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... OMIM:620068
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Knee flex... OMIM:602484
Extensor Tendons Of Finger Anomalies
Multiple lipomas, Camptodactyly of finger, Skeletal muscle atrophy ORPHA:3294
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy, Respiratory paralysis OMIM:158650
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Frequent falls, Spinal rigidity, Hyperlordosis, Rigidity, Dilated cardiomyopathy, L... OMIM:161800
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Acute Interstitial Pneumonia
Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-glass opac... ORPHA:79126
Endosteal Hyperostosis, Worth Type
Mandibular prognathia, Craniofacial hyperostosis, Sclerotic vertebral body, Generalized osteoscle... ORPHA:2790
Combined Oxidative Phosphorylation Deficiency 38
Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com... OMIM:618378
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Incr... OMIM:616852
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Pyknoachondrogenesis
Increased bone mineral density, Stillbirth OMIM:265880
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Crackles, ... OMIM:610978
Surfactant Metabolism Dysfunction, Pulmonary, 1
Death in infancy, Neonatal respiratory distress, Apnea, Ground-glass opacification, Dyspnea, Desq... OMIM:265120
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Frequent falls, Flexion contracture, P... OMIM:619216
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Familial Nasal Acilia
Respiratory distress, Atelectasis, Dyspnea, Recurrent upper respiratory tract infections, Bronchi... ORPHA:922
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Neonatal respiratory distress, Atelectasis, Dyspnea, Tachypnea, Pulmonary e... OMIM:267450
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Nemaline Myopathy 7
Lumbar hyperlordosis, Frequent falls, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee ... OMIM:610687
Renal Hypodysplasia/Aplasia 4
Respiratory failure, Pulmonary hypoplasia OMIM:619887
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy, Ataxia OMIM:158500
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Diastrophic Dysplasia
Recurrent respiratory infections, Increased bone mineral density, Depressed nasal bridge, Camptod... ORPHA:628
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Short neck, Spinal rigidity, Achilles tendo... OMIM:300696
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Scoliosis, Distal lower limb muscle... OMIM:605285
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Left atrial enla... OMIM:160500
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations OMIM:615048
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Hyperlordosis, Centrally nucleated skeletal m... OMIM:617760
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Hand muscle weakness, Vocal cord paralysis, Distal amyotrophy, Weakness of f... OMIM:607641
Flynn-Aird Syndrome
Increased bone mineral density, Kyphoscoliosis, Joint stiffness, Carious teeth, Osteoporosis, Inc... OMIM:136300
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Postural tremor, Spinal rigidity, Flexion contracture, To... OMIM:618524
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Bronchogenic Cyst
Back pain, Abnormal pulmonary thoracic imaging finding, Pulmonary cyst, Pneumonia, Abnormal pleur... ORPHA:2357
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Dilated cardiomyopathy, Elb... ORPHA:206546
Myopathy, Myofibrillar, 3
Achilles tendon contracture, Cardiomyopathy, Distal amyotrophy, Muscle fiber cytoplasmatic inclus... OMIM:609200
Dysequilibrium Syndrome
Skeletal muscle atrophy, Cerebral palsy, Ataxia ORPHA:1766
Meconium Aspiration Syndrome
Respiratory distress, Abnormal pulmonary thoracic imaging finding, Atelectasis, Neonatal asphyxia... ORPHA:70588
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Tongue fasciculations, Jo... OMIM:616081
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Pr... ORPHA:98855
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Crackles, Atelectasis, Hypersensitivity pneumonitis,... ORPHA:2902
Myotubular Myopathy With Abnormal Genital Development
Respiratory distress, Death in infancy, Atelectasis, Neonatal death, Retrognathia, Joint hypermob... OMIM:300219
Buschke-Ollendorff Syndrome
Osteopoikilosis, Flexion contracture, Scoliosis, Joint stiffness OMIM:166700
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis OMIM:613710
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Productive cough, Atelectasis, Wheezing,... ORPHA:3348
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Gemignani Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Ataxia, Hemiplegia/hemiparesis ORPHA:2074
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Myopathy, Slender build ORPHA:352470
Ciliary Dyskinesia, Primary, 5
Recurrent respiratory infections, Neonatal respiratory distress, Nasal polyposis, Recurrent pneum... OMIM:608647
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations OMIM:182980
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Krabbe Disease, Atypical, Due To Saposin A Deficiency
Central apnea, Death in infancy, Respiratory failure, Respiratory insufficiency OMIM:611722
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis OMIM:616286
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... ORPHA:62
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap... OMIM:613162
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Abnormal respiratory system physiology, Respiratory insufficiency, Limite... ORPHA:266
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Intrinsic hand muscle at... ORPHA:3115
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Type II pneumocyte hypertrophy, Desquamative interstitial pneumonitis, Recu... OMIM:263000
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Respiratory failure requiring assisted ventilation, Dyspnea, Respiratory failure, Aspiration pneu... ORPHA:90117
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Reduced forced vital capacity, Tachypnea, Cough, Decreased DLCO, Bronchiect... OMIM:610913
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Osteosclerotic Metaphyseal Dysplasia
Increased bone mineral density, Sclerotic vertebral endplates, Clavicular sclerosis OMIM:615198
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Neonatal respiratory distress, Nasal polyposis, Peribronchova... ORPHA:244
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Facial palsy, Increased connective tissue, Flexion contracture, Distal amyot... OMIM:607684
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Tongue fasciculations, Type 1 muscle fiber predominance, Tetrapa... OMIM:618276
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Right... OMIM:253700
Pulmonary Blastoma
Pleuropulmonary blastoma, Weight loss ORPHA:64741
Infant Acute Respiratory Distress Syndrome
Pneumonia, Respiratory tract infection, Atelectasis, Nasal flaring, Tachypnea, Hypoxemia, Respira... ORPHA:70587
Ossification Of The Posterior Longitudinal Ligament Of Spine
Ectopic ossification, Increased bone mineral density, Abnormality of the vertebral column OMIM:602475
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Chondrodysplasia, Blomstrand Type
Depressed nasal bridge, Micrognathia, Generalized osteosclerosis, Advanced ossification of carpal... OMIM:215045
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Autosomal Dominant Hyper-Ige Syndrome
Osteopenia, Recurrent respiratory infections, Delayed eruption of teeth, Osteomyelitis, Recurrent... ORPHA:2314
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type
Aplasia/Hypoplasia of the lungs, Increased bone mineral density, Abnormal cortical bone morphology ORPHA:2204
Xeroderma Pigmentosum, Complementation Group G
Small for gestational age, Ataxia, Tremor, Defective DNA repair after ultraviolet radiation damag... OMIM:278780
Dentin Dysplasia
Increased bone mineral density, Abnormal dental enamel morphology ORPHA:1653
Pneumocystosis
Multiple pulmonary cysts, Respiratory failure requiring assisted ventilation, Nonproductive cough... ORPHA:723
Congenital Muscular Dystrophy, Ullrich Type
Micrognathia, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Elbow flexion contractu... ORPHA:75840
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... OMIM:613205
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome
Broad jaw, Increased bone mineral density, Craniosynostosis ORPHA:178377
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Claw hand deformity, Spinal muscular atrophy, Babinski sign, Distal amyotrophy, Foot dorsiflexor ... OMIM:605726
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Respiratory insufficiency due to muscle weakness, Flexion contracture, Respiratory failure, Scoli... ORPHA:2590
Osteomesopyknosis
Low back pain, Increased bone mineral density OMIM:166450
Congenital Myopathy 14
Hip contracture, Death in infancy, Apnea, Respiratory insufficiency due to muscle weakness, Flexi... OMIM:618414
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Respiratory distress, Recurrent respiratory infections, Choanal atresia, Dyspnea, Hemivertebrae, ... ORPHA:2759
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Atelectasis, Achilles tendon contracture, Decreased cervical spine flexion due to contractures of... ORPHA:254361
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Increased mitochondrial number ORPHA:457050
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... OMIM:253400
Mueller-Weiss Syndrome
Limitation of movement at ankles, Sclerosis of foot bone, Joint stiffness, Facet joint arthrosis,... ORPHA:566943
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Fasciculations ORPHA:85162
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Hand muscle weakness, Tremor, Intrinsic hand muscle atrophy, Proxim... ORPHA:101077
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrophy, Scoliosis OMIM:618323
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Increased connective tissue, Tongue fasciculation... ORPHA:238329
Sclerosteosis
Craniofacial hyperostosis, Increased bone mineral density, Abnormal cortical bone morphology, Abn... ORPHA:3152
Neuropathy, Congenital, With Arthrogryposis Multiplex
Hyperlordosis, Babinski sign, Distal amyotrophy, Arthrogryposis multiplex congenita, Spasticity OMIM:162370
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Failure to thrive, Multiple joint contractures, Foot joint contr... ORPHA:536516
Scedosporiosis
Bronchial breath sound, Arthralgia/arthritis, Osteomyelitis, Pneumonia, Bronchitis, Sinusitis, Ab... ORPHA:449280
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Hepatic steatosis, Lumbar hyperlordosis, Lipodystrophy, Myopathy, Abdomi... OMIM:615980
Hyperostosis Corticalis Generalisata
Mandibular prognathia, Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyp... ORPHA:3416
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Ovoid vertebral bodies,... ORPHA:163649
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Inguinal hernia, Thenar muscle atrophy, Dilated cardiomyopathy, Dysmetria, Premature graying of h... OMIM:619903
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... ORPHA:86812
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Flexion contracture, Pro... OMIM:607706
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Babinski sign, Spas... OMIM:616907
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Respiratory distress, Multiple joint contractures, Micrognathia, Anteverted nares, Re... ORPHA:536467
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy, Skeletal muscle atrophy OMIM:613723
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Tremor, Flexion contracture, Babinski sign, Spasticity, Distal amyotrophy, Hypertonia, Scoliosis,... OMIM:609260
Isolated Osteopoikilosis
Abnormally ossified vertebrae, Increased bone mineral density, Sclerosis of foot bone, Sclerotic ... ORPHA:166119
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Respiratory distress, Respiratory insufficiency due to muscle weakness, Recurrent pneumonia, Resp... ORPHA:254875
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Combined Oxidative Phosphorylation Deficiency 51
Neonatal respiratory distress, Respiratory failure, Aspiration pneumonia OMIM:619057
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Nemaline Myopathy 8
Death in infancy, Respiratory failure, Flexion contracture OMIM:615348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, ... OMIM:615156
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Babinski sign, Up... ORPHA:496689
Waardenburg Syndrome Type 3
Narrow nasal bridge, Camptodactyly of finger, Joint stiffness, Atelectasis, Tracheomalacia, Synos... ORPHA:896
Metatropic Dysplasia
Relatively short spine, Depressed nasal bridge, Kyphoscoliosis, Abnormal enchondral ossification,... OMIM:156530
C1Q Deficiency 2
Arthritis, Recurrent lower respiratory tract infections, Atelectasis, Bronchiectasis OMIM:620321
Congenital Myopathy 10A, Severe Variant
Respiratory distress, Camptodactyly of finger, Respiratory insufficiency, Restrictive ventilatory... OMIM:614399
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogryposis OMIM:616287
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Frequent falls, Achilles t... ORPHA:353
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Death in infancy, Respiratory failure, Apnea, Respiratory insufficiency OMIM:613869
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Ceroid Lipofuscinosis, Neuronal, 10
Apnea, Wide nasal bridge, Respiratory insufficiency, Respiratory failure, Neonatal death OMIM:610127
Mantle Cell Lymphoma
B-cell lymphoma, Weight loss ORPHA:52416
Congenital Myopathy 21 With Early Respiratory Failure
Spinal rigidity, Dyspnea, Lipoid pneumonia, Respiratory failure, Nocturnal hypoventilation OMIM:620326
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Increased connective tissue, Dilated cardiomyopathy, Macroglossia, Calf ... OMIM:616827
Isolated Succinate-Coq Reductase Deficiency
Noncompaction cardiomyopathy, Skeletal muscle atrophy, Ataxia, Spastic tetraparesis, Babinski sig... ORPHA:3208
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Neonatal respiratory distress, Multiple prenatal fractures, Flexion contracture, Respiratory fail... OMIM:616867
Pycnodysostosis
Obtuse angle of mandible, Micrognathia, Hypoplasia of the maxilla, Generalized osteosclerosis, Pr... ORPHA:763
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spasticity, Spastic paraplegia OMIM:615683
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Babinski sign, Proximal amyotrophy, Pr... ORPHA:2596
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Flexion contracture, Spastic parap... OMIM:312920
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma, Weight loss ORPHA:2023
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Ataxia, Spinal muscular atrophy, Spastic tetraplegia, Distal amyotrophy, Scoliosis, Spasticity, F... OMIM:617207
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Pneumothorax, Tachypnea, Pulmonary... ORPHA:36238
Spinal Muscular Atrophy, Ryukyuan Type
Fasciculations, Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... OMIM:603034
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Multiple joint contractures, Lumbar hyperlordosis, Shoulder flexion cont... OMIM:617114
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Idiopathic Pulmonary Hemosiderosis
Nodular pattern on pulmonary HRCT, Diffuse alveolar hemorrhage, Ground-glass opacification, Crack... ORPHA:99931
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Ground-glass opacification, Respiratory tract infection, Hypersensitivity pneumonitis, Nonproduct... ORPHA:79127
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly OMIM:618011
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Pontocerebellar Hypoplasia, Type 4
Death in infancy, Congenital contracture, Respiratory failure OMIM:225753
Isolated Congenital Hypoglossia/Aglossia
Hamartoma, Weight loss ORPHA:141152
Ciliary Dyskinesia, Primary, 1
Nasal polyposis, Pneumonia, Absent frontal sinuses, Atelectasis, Anosmia, Bronchiectasis, Immotil... OMIM:244400
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Exercise-induced myoglobinuria, Kyphosis, Achilles tendon contra... OMIM:607155
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... OMIM:613156
Glycine Encephalopathy 2
Respiratory failure OMIM:620398
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fibers, Tetraplegia, Tongue fas... OMIM:300816
Butyrylcholinesterase Deficiency
Abnormality of the liver, Neoplasm, Paralysis ORPHA:132
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Multiple joint contractures, Respiratory insufficiency, Respirato... ORPHA:370968
Developmental And Epileptic Encephalopathy 71
Respiratory failure, Cheyne-Stokes respiration, Respiratory insufficiency OMIM:618328
Microcephaly, Seizures, And Developmental Delay
Skeletal muscle atrophy, Ataxia OMIM:613402
Intermediate Osteopetrosis
Back pain, Sandwich appearance of vertebral bodies, Osteomyelitis, Recurrent fractures, Cortical ... ORPHA:210110
Mitochondrial Complex Iv Deficiency, Nuclear Type 19
Increased mitochondrial number, Decreased activity of mitochondrial complex IV OMIM:619063
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... ORPHA:353327
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Spast... ORPHA:247604
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Lower limb muscle weakness, Spastic paraplegia, Babinski sign, Dys... OMIM:610357
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Myofibrillar myopathy, Diaph... OMIM:612954
Vacterl Association With Hydrocephalus
Radial club hand, Respiratory insufficiency, Respiratory failure, Stillbirth, Abnormality of the ... OMIM:276950
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Scoliosis, Hypertrichosis OMIM:618244
Neurogenic Arthrogryposis Multiplex Congenita
Hip contracture, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Urinary incontinence, Ab... ORPHA:309162
King-Denborough Syndrome
Lumbar hyperlordosis, Ventricular septal defect, Kyphoscoliosis, Short neck, Centrally nucleated ... OMIM:619542
Microphthalmia, Syndromic 12
Broad nasal tip, Micrognathia, Wide nasal bridge, Pulmonary hypoplasia, Neonatal death, Retrognathia OMIM:615524
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Ataxia-Telangiectasia
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormality of chromosome stability, Hypo... ORPHA:100
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Foot dorsiflex... OMIM:613287
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Increased connective tissue, Muscular dystrophy, Increased variability i... OMIM:253601
Isolated Glycerol Kinase Deficiency
Myopathy, Scoliosis, Hyperlordosis ORPHA:408
Osteochondrosis Of The Metatarsal Bone
Arthritis, Thickened cortex of bones, Sclerosis of foot bone, Joint stiffness ORPHA:564003
Acute Lung Injury
Respiratory distress, Pneumonia, Diffuse alveolar hemorrhage, Dyspnea, Tachypnea, Abnormal pulmon... ORPHA:178320
Trichodentoosseous Syndrome
Increased bone mineral density, Taurodontia OMIM:190320
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Scoliosis ORPHA:101078
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Frequent falls, Hand muscle weakness, Quadriceps muscle weakness,... ORPHA:99948
Osteopetrosis, Autosomal Dominant 1
Generalized osteosclerosis, Mandibular pain, Abnormality of the vertebral column, Osteopetrosis, ... OMIM:607634
Acquired Hypertrichosis Lanuginosa
Abnormal eyebrow morphology, Hypopigmentation of hair, Ovarian neoplasm, Weight loss, Macroglossi... ORPHA:2221
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Small for gestational age, Failure to thrive in infancy, Kyphoscoliosis,... ORPHA:59
Radio-Renal Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Dyspnea, Abnormal form of... ORPHA:3015
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Avian Influenza
Respiratory distress, Miscarriage, Pneumonia, Ground-glass opacification, Productive cough, Nonpr... ORPHA:454836
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Micrognathia, Flexion contracture, Respiratory insufficiency, Respiratory... OMIM:618186
Spinal Muscular Atrophy, X-Linked 2
Inguinal hernia, Multiple joint contractures, Hypospadias, Facial palsy, Spinal muscular atrophy,... OMIM:301830
Otopalatodigital Syndrome Type 1
Increased bone mineral density, Depressed nasal bridge, Hypoplastic frontal sinuses, Limitation o... ORPHA:90650
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Crackles, Ground-glass opacification, Atelectasis, Dyspnea, Asthma, Wheezing, Bronchiectasis, Abn... OMIM:620233
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Reduced subcutaneous adipose tissue, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar s... ORPHA:3041
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Death in infancy, Depressed n... OMIM:259775
Beemer-Ertbruggen Syndrome
Increased bone mineral density, Micrognathia, Bulbous nose, Wide nasal bridge, Respiratory insuff... ORPHA:1237
Juvenile Hyaline Fibromatosis
Abnormal hair morphology, Skeletal muscle atrophy, Progressive flexion contractures, Gingival fib... ORPHA:2028
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Hypoplasia of the maxilla, Tachypnea, Depressed nasal ridge, Thick nasal alae,... ORPHA:79345
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Dysostosis, Stanescu Type
Narrow nasal bridge, Increased bone mineral density, Abnormal dental enamel morphology, Short nec... ORPHA:1798
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Atrophic scars, Hernia ORPHA:300179
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Postural tremor, Lower limb muscle weakness, Urinary incontinence, Babinsk... OMIM:270800
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Spastic Paraplegia 87, Autosomal Recessive
Lower limb spasticity, Lumbar hyperlordosis, Babinski sign, Upper limb spasticity, Spastic gait OMIM:619966
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Clonus, Lacticaciduria, Distal amyotrophy, Tongue fasciculations, Scoliosis,... OMIM:618811
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... OMIM:248800
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia
Increased bone mineral density OMIM:250500
Isaacs Syndrome
Calf muscle hypertrophy, Fasciculations, Weight loss ORPHA:84142
12q14 microdeletion syndrome
Osteopoikilosis DECIPHER:76
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Lymphoma, Decreased body weight ORPHA:477814
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome
Increased bone mineral density ORPHA:75325
Porphyria, Acute Hepatic
Elevated urinary delta-aminolevulinic acid, Failure to thrive, Respiratory paralysis, Paralysis OMIM:612740
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Neuropathy, Congenital Hypomyelinating, 2
Skeletal muscle atrophy, Distal amyotrophy, Facial diplegia, Scoliosis OMIM:618184
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Thenar muscle atrop... OMIM:604360
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Obesity, Scoliosis OMIM:616756
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Fatty replacement of skeletal muscle, Cardiomyopathy, Abnormality of the vertebral... ORPHA:52430
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... ORPHA:101097
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Central apnea, Sacral dimple, Multiple joint contractures, Micrognathia, Respiratory insufficienc... OMIM:618291
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Ataxia, Tremor, Kyphosis, Nephropathy, Fl... ORPHA:87876
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Adrenocortical adenoma, Incre... ORPHA:681
Lethal Recessive Chondrodysplasia
Respiratory distress, Generalized osteosclerosis, Micrognathia ORPHA:1423
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Incoordination, Ataxia, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Intrinsic h... OMIM:616688
Pulmonary Hypoplasia, Primary
Neonatal death, Pulmonary hypoplasia OMIM:265430
Cutis Laxa, Autosomal Recessive, Type Ic
Osteopenia, Joint laxity, Death in infancy, Micrognathia, Atelectasis, Recurrent pneumonia, Wide ... OMIM:613177
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Mucolipidosis Type Iii
Inguinal hernia, Abnormal heart valve morphology, Hyperlordosis, Abnormal form of the vertebral b... ORPHA:577
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Familial Colorectal Cancer Type X
Flexion contracture, Abnormal pyramidal sign, Hypertonia, Neoplasm of the breast, Renal neoplasm,... ORPHA:440437
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Abnormality of the temporomandibular joint, Hyperlordosis, Atelectasis, Flexion ... ORPHA:258
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Diaphragmatic paralysis, Plantar flexion contracture, Arthrogryposis-lik... OMIM:620011
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Failure to thrive, Myoclonus, Dysmetria OMIM:618251
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... ORPHA:1782
Distal Myotilinopathy
Multiple joint contractures, Cardiomyopathy, Distal amyotrophy, EMG: myopathic abnormalities, Abn... ORPHA:98911
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Clonus, Cachexia, Parkinsonism, Head titu... ORPHA:300605
Osteopetrosis, Autosomal Dominant 2
Recurrent fractures, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscle... OMIM:166600
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Inguinal hernia, Kyphoscoliosis, Hyperlordosis, Obesity, Truncal obesity, Irregu... OMIM:618363
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Arthrogryposis Multiplex Congenita 6
Death in infancy, Respiratory failure, Death in childhood, Neonatal death, Arthrogryposis multipl... OMIM:619334
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ataxia, Cachexia, Ragged-red muscle fibers, Weight loss, Slender build OMIM:613662
Mitochondrial Short-Chain Enoyl-Coa Hydratase 1 Deficiency
Death in infancy, Respiratory failure, Apnea OMIM:616277
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Urinary incontinence, Opisthotonus, Spastic... OMIM:205100
Idiopathic Bronchiectasis
Crackles, Productive cough, Respiratory tract infection, Dyspnea, Wheezing, Emphysema, Bronchiect... ORPHA:60033
Hsd10 Mitochondrial Disease
Abnormal mitochondrial morphology OMIM:300438
Mosaic Variegated Aneuploidy Syndrome 4
Abnormality of chromosome stability OMIM:620153
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Triose Phosphate-Isomerase Deficiency
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Diaphragmatic paralysis ORPHA:868
Spinal Muscular Atrophy, Type Ii
Skeletal muscle atrophy, Tongue fasciculations, Spinal muscular atrophy, Hand tremor OMIM:253550
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Elevated hepatic transaminase, Hepatomegaly, Hyperlordosis, Chorea, Right ventricular dilatation,... ORPHA:369840
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:245400
Fried Syndrome
Skeletal muscle atrophy, Spastic diplegia, Scoliosis ORPHA:85335
Spastic Paraplegia 17, Autosomal Dominant
Lower limb spasticity, Postural tremor, Thenar muscle atrophy, Thenar muscle weakness, Babinski s... OMIM:270685
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Mandibular prognathia, Respiratory distress, Death in infancy, Thoracic scoliosis, Respiratory fa... OMIM:620278
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Failure to thrive in infancy, Intrinsic hand muscle atrophy, Upper ... ORPHA:90103
Lynch Syndrome
Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma... ORPHA:144
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski... OMIM:613954
Myopathy, Distal, 3
Clumsiness, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Adult Acute Respiratory Distress Syndrome
Pneumonia, Dyspnea, Pulmonary infiltrates, Hypoxemia, Respiratory failure, Abnormal blood gas lev... ORPHA:70578
Osteopoikilosis And Dacryocystitis
Osteopoikilosis OMIM:166705
Pulmonary Alveolar Microlithiasis
Bronchitis, Nonproductive cough, Tachypnea, Oxygen desaturation on exertion, Respiratory tract in... ORPHA:60025
Multiple Mitochondrial Dysfunctions Syndrome 3
Arthrogryposis multiplex congenita, Respiratory failure, Retrognathia, Respiratory insufficiency OMIM:615330
Melorheostosis With Osteopoikilosis
Osteopoikilosis, Abnormal cortical bone morphology ORPHA:1879
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Abnormal heart valve morphology, Facial palsy, Hyperlordosis, ... ORPHA:169186
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Scapular winging, Calf muscle pseudohypertrophy, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Nemaline Myopathy 10
Skeletal muscle atrophy, Facial palsy, Fatty replacement of skeletal muscle, Flexion contracture,... OMIM:616165
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased conn... OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Cardiomyopathy, Muscular dystrophy... OMIM:608807
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... OMIM:230650
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, High anterior hairline, Congenital foot contra... OMIM:314580
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Lower limb spasticity, Postural tremor, Urinary incontinence, Babinski s... ORPHA:100988
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, Hyperlordosis, Spina bif... ORPHA:2780
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Spinal rigidity, Flexion contracture, Limb-gir... ORPHA:171436
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Hepatomegaly, B-cell lymphoma, Lymphoma, Breast carcinoma, Weight loss ORPHA:86893
Fibrodysplasia Ossificans Progressiva
Small cervical vertebral bodies, Progressive cervical vertebral spine fusion, Ectopic ossificatio... OMIM:135100
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Huntington Disease-Like 2
Chorea, Involuntary movements, Parkinsonism, Weight loss ORPHA:98934
Anaplastic Thyroid Carcinoma
Neoplasm of the skeletal system, Vocal cord paralysis, Weight loss, Neoplasm of the lung, Maligna... ORPHA:142
Gaucher Disease Type 1
Osteopenia, Increased bone mineral density, Kyphosis, Osteoarthritis, Osteolysis, Abnormal pulmon... ORPHA:77259
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Hepatomegaly, Hepatic bridging fibrosis, Tremor, Limb ataxia, Gait ataxi... OMIM:616719
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, Ankle flex... ORPHA:1145
Lethal Congenital Contracture Syndrome 1
Micrognathia, Pulmonary hypoplasia, Neonatal death, Arthrogryposis multiplex congenita, Widening ... OMIM:253310
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Bradykinesia, Athetosis, Scoliosis, Spasticity, Upper motor neuron dysfu... OMIM:500001
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
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Cardiomyopathy, Facial diplegia, Type... ORPHA:171433
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Skeletal muscle atrophy, Vocal cord paresis, Intrinsic hand muscle atrophy, Gait ataxia, Distal a... OMIM:614895
Crisponi/Cold-Induced Sweating Syndrome 2
Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Pyruvate Dehydrogenase E1-Alpha Deficiency
Anteverted nares, Flared nostrils, Wide nasal bridge, Apneic episodes precipitated by illness, fa... OMIM:312170
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Generalized hirsutism, Ataxi... ORPHA:354
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Elevated urinary 3-hydroxyb... ORPHA:42
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Alopecia, Limb joint contracture, K... OMIM:612079
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Kyphoscoliosis, Abnormal pyramidal sign, Spastic paraparesis, Joint cont... OMIM:260600
Rhabdoid Tumor
Renal neoplasm, Cerebral palsy, Weight loss, Neoplasm of the central nervous system, Neoplasm of ... ORPHA:69077
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Larsen-Like Syndrome, Lethal Type
Tracheomalacia, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death OMIM:245650
Combined Oxidative Phosphorylation Deficiency 28
Respiratory failure OMIM:616794
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Xfe Progeroid Syndrome
Elevated hepatic transaminase, Renal insufficiency, Proteinuria, Cachexia, Absence of subcutaneou... OMIM:610965
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hypertrophy... OMIM:619178
Osteogenesis Imperfecta, Type Xiii
Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Dentinogenesis imperfecta, O... OMIM:614856
Spastic Paraplegia Type 7
Abnormal mitochondrial morphology ORPHA:99013
Lung Agenesis, Congenital Heart Defects, And Thumb Anomalies Syndrome
Neonatal death, Bilateral lung agenesis, Respiratory insufficiency OMIM:601612
Proximal Spinal Muscular Atrophy
Hypoventilation, Neonatal respiratory distress, Multiple joint contractures, Recurrent infections... ORPHA:70
Multinucleated Neurons, Anhydramnios, Renal Dysplasia, Cerebellar Hypoplasia, And Hydranencephaly
Microretrognathia, Anteverted nares, Narrow nasal ridge, Short neck, Bulbous nose, Stillbirth, Ch... OMIM:236500
Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair,... ORPHA:902
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in muscle fibe... OMIM:619473
Endosteal Hyperostosis, Autosomal Dominant
Sclerotic vertebral body, Dental malocclusion, Hyperostosis, Metacarpal diaphyseal endosteal scle... OMIM:144750
Sandestig-Stefanova Syndrome
Short neck, Wide nasal bridge, Respiratory failure, Camptodactyly, Retrognathia, Convex nasal ridge OMIM:618804
Laryngeal Neuroendocrine Tumor
Neuroendocrine neoplasm, Neoplasm of the larynx, Weight loss ORPHA:100083
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Ataxia, Thick hair, Rigidity, Scoliosis OMIM:618239
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ataxia, Progressive intervertebral space narrowing, Hemiplegia/hemipares... ORPHA:480
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Abnormal pyramidal sign, Cardiomyopathy, Lower limb hypertonia, Progressiv... ORPHA:1177
Charcot-Marie-Tooth Disease Type 1A
Calf muscle hypertrophy, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:101081
Farber Disease
Respiratory distress, Nodular pattern on pulmonary HRCT, Atelectasis, Flexion contracture, Osteop... ORPHA:333
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Dystrophic fingernails, Dystrophic toenail, Hyperlordosis ORPHA:970
Fanconi Anemia, Complementation Group C
Small for gestational age, Ventricular septal defect, Ectopic kidney, Flexion contracture, Anteri... OMIM:227645
Duchenne Muscular Dystrophy
Skeletal muscle atrophy, Flexion contracture, Calf muscle hypertrophy, Cardiomyopathy, Scoliosis ORPHA:98896
Glutamine Deficiency, Congenital
Recurrent respiratory infections, Neonatal respiratory distress, Apnea, Anteverted nares, Depress... OMIM:610015
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... OMIM:608340
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture OMIM:616516
Spastic Paraplegia 20, Autosomal Recessive
Lower limb spasticity, Kyphoscoliosis, Flexion contracture, Babinski sign, Spastic paraplegia, Dy... OMIM:275900
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Respiratory failure OMIM:618637
Flynn-Aird Syndrome
Skeletal muscle atrophy, Alopecia, Ataxia, Cachexia, Kyphosis, Scoliosis ORPHA:2047
Lipodystrophy, Congenital Generalized, Type 4
Elevated hepatic transaminase, Hepatomegaly, Lipodystrophy, Hyperlordosis, Spinal rigidity, Centr... OMIM:613327
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Tremor, Skeletal muscle atrophy, Scoliosis ORPHA:330050
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle fibers, Babinski... OMIM:258450
Dysosteosclerosis
Osteopenia, Sclerosis of hand bone, Delayed eruption of teeth, Natal tooth, Sclerotic scapulae, M... OMIM:224300
Tuberculosis
Weight loss ORPHA:3389
Becker Nevus Syndrome
Hamartoma, Lipoatrophy, Supernumerary nipple, Kyphosis, Scoliosis, Spina bifida occulta, Shoulder... ORPHA:64755
Immunodeficiency 54
Recurrent respiratory infections, Respiratory failure, Respiratory insufficiency OMIM:609981
Congenital Neuronal Ceroid Lipofuscinosis
Neonatal respiratory distress, Apnea, Wide nasal bridge, Respiratory failure ORPHA:168486
Van Buchem Disease
Increased bone mineral density, Cranial hyperostosis, Thickened cortex of long bones OMIM:239100
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Ataxia-Deafness-Intellectual Disability Syndrome
Skeletal muscle atrophy, Ataxia, Scoliosis ORPHA:1188
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Ataxia, Tongue fasciculations, Arthrogryposis multiplex congenita, Spast... ORPHA:2254
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Small for gestational age, Kinetic tremor, Kyphoscoliosis, Hyperlordosis, Increased vertebral hei... OMIM:616817
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Reduced subcutaneous adipose tissue, Lipoatrophy, Lipodystrophy, Cachexia, Abnormal hair morpholo... ORPHA:1979
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Alopecia, Hepatomegaly, Sparse eyelashes, Sparse eyebrow, Scoliosis, Joi... OMIM:615704
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Osteopenia, Obtuse angle of mandible, Increased bone mineral density, Micrognathia, Vertebral arc... ORPHA:85184
Trichothiodystrophy
Sparse scalp hair, Multiple joint contractures, Ventricular septal defect, Brittle hair, Absence ... ORPHA:33364
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Cerebral palsy, Hemangiomatosis, Neo... ORPHA:163634
Schwartz-Jampel Syndrome, Type 1
Hip contracture, Inguinal hernia, Lumbar hyperlordosis, Skeletal muscle atrophy, Shoulder flexion... OMIM:255800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Tmem70-Related Mitochondrial Encephalo-Cardio-Myopathy
Death in infancy, Camptodactyly of finger, Flexion contracture, Respiratory failure, Retrognathia ORPHA:1194
Melorheostosis
Increased bone mineral density, Joint stiffness, Hyperostosis, Arthritis, Ectopic ossification in... ORPHA:2485
Striatonigral Degeneration, Childhood-Onset
Ankle clonus, Lumbar hyperlordosis, Hypertonia OMIM:617054
Osteopetrosis, Autosomal Recessive 1
Sandwich appearance of vertebral bodies, Increased bone mineral density, Osteomyelitis, Craniosyn... OMIM:259700
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Osteomyelitis, Recurrent fractures, Persistence of primary teeth, Mandibul... OMIM:259710
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormal pyramidal sign, Cardiomyopathy, Scoliosis, Weakness of facial m... ORPHA:329336
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Babinski sign, Upper limb amyotrophy, Upper limb... OMIM:616924
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Decreased activity of mitochondrial complex I, Mitochondrial hypertrophy, Decreased activity of m... OMIM:500013
Cleidocranial Dysplasia 1
Respiratory distress, Increased bone mineral density, Neonatal respiratory distress, Depressed na... OMIM:119600
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb muscle weakness ORPHA:97229
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Fasciculations, Foot dorsiflexor weakness OMIM:137200
Jansen-De Vries Syndrome
Ventricular septal defect, Central diaphragmatic hernia, Bicuspid aortic valve, Hyperlordosis OMIM:617450
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... OMIM:615157
Ruijs-Aalfs Syndrome
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Lipodystrophy, Hepatocellular carcinoma, Elbow ... OMIM:616200
Muscular Dystrophy, Duchenne Type
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, D... OMIM:310200
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Calf muscle hypertrophy, Shoulder girdle... OMIM:158900
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Sparse scalp hair, Lipodystrophy, Sparse eyelashes, Kyphoscoliosis, Spar... ORPHA:75496
Postsynaptic Congenital Myasthenic Syndromes
Orthopnea, Reduced vital capacity, Thoracic kyphoscoliosis, Restrictive ventilatory defect, Respi... ORPHA:98913
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Anteverted nares, Depressed nasal bridge, Micrognath... ORPHA:50945
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Ataxia, Abnormal pyramidal sign, Left ventricular hypertrophy, Hypertrop... OMIM:618228
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Autoinflammation With Pulmonary And Cutaneous Vasculitis
Restrictive ventilatory defect, Interstitial pneumonitis, Recurrent upper respiratory tract infec... OMIM:620296
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Glycine Encephalopathy With Normal Serum Glycine
Joint laxity, Hip contracture, Apnea, Anteverted nares, Depressed nasal bridge, Flexion contractu... OMIM:617301
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Clonus, Spastic tetraparesis, Scoliosis, Joint contracture OMIM:617481
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Scoliosis, Hydronephrosis OMIM:618578
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Back pain, Abnormal thoracic spine morphology, Brain neoplasm, Torticol... ORPHA:370348
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Schwartz-Jampel Syndrome
Apnea, Micrognathia, Short neck, Wrist flexion contracture, Death in infancy, Increased bone mine... ORPHA:800
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Respiratory insufficiency due to muscle weakness... ORPHA:352447
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Urinary incontinence, Upper limb muscle weakness, Scoliosis, Distal lowe... OMIM:615284
Frontotemporal Dementia With Motor Neuron Disease
Abnormal mitochondrial morphology ORPHA:275872
Geleophysic Dysplasia 3
Anteverted nares, Pneumonia, Limited elbow movement, Limited wrist movement, Depressed nasal brid... OMIM:617809
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Mcdonough Syndrome
Cachexia, Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Sialidosis Type 1
Skeletal muscle atrophy, Urinary excretion of sialylated oligosaccharides, Ataxia, Tremor, Kyphos... ORPHA:812
Alg1-Cdg
Kyphosis, Respiratory failure, Limitation of joint mobility, Scoliosis ORPHA:79327
Otopalatodigital Syndrome Type 2
Increased bone mineral density, Depressed nasal bridge, Camptodactyly of finger, Tarsal synostosi... ORPHA:90652
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Respiratory distress, Respiratory failure, Depressed nasal bridge, Pulmonary hypoplasia OMIM:617895
Fucosidosis
Hepatomegaly, Decreased muscle mass, Lipoatrophy, Cardiomegaly, Kyphosis, Abnormality of the gall... ORPHA:349
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Portal hypertension, Hepatosplenomegaly, Cardiomyopathy, Cirrhosis, Hepa... OMIM:232500
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Anteverted nares, Bulbous nose, Flexion contracture, Respiratory failure, Scoliosis OMIM:616505
Dyssegmental Dysplasia, Silverman-Handmaker Type
Micrognathia, Wide nasal bridge, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal death,... OMIM:224410
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Christianson Syndrome
Decreased muscle mass, Cachexia, Gait ataxia, Truncal ataxia, Arthrogryposis multiplex congenita,... ORPHA:85278
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Exercise-induced myoglo... OMIM:300559
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Respiratory distress, Central apnea, Lumbar hyperlordosis, Depressed nasal bridge, Kyphosis, Resp... OMIM:616482
Dacryocystitis-Osteopoikilosis Syndrome
Increased bone mineral density, Osteopoikilosis ORPHA:1562
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Braddock-Carey Syndrome 1
Curly hair, Multicystic kidney dysplasia, Aortic valve prolapse, Ventricular septal defect, Hyper... OMIM:619980
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Kyphosis, Babinski... OMIM:128100
Combined Oxidative Phosphorylation Deficiency 52
Death in infancy, Respiratory failure OMIM:619386
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Polymyositis
Hepatomegaly, Pericarditis, Abnormal muscle fiber morphology, Dilated cardiomyopathy, Breast carc... ORPHA:732
Glycogen Storage Disease Due To Acid Maltase Deficiency
Respiratory distress, Orthopnea, Hyperlordosis, Respiratory tract infection, Atelectasis, Respira... ORPHA:365
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Idiopathic Achalasia
Weight loss ORPHA:930
Short-Rib Thoracic Dysplasia 12
Natal tooth, Short neck, Atelectasis, Respiratory insufficiency, Pulmonary hypoplasia, Neonatal d... OMIM:269860
Desmosterolosis
Increased bone mineral density, Depressed nasal bridge, Micrognathia, Abnormality of the nose, An... ORPHA:35107
Erythrokeratodermia Variabilis
Alopecia, Abnormal hair morphology, Weight loss, Neoplasm of the skin, Generalized hirsutism ORPHA:317
Juvenile Huntington Disease
Ataxia, Rigidity, Chorea, Gait ataxia, Weight loss, Bradykinesia, Progressive cerebellar ataxia, ... ORPHA:248111
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Recurrent myoglobinuria, Quadriceps muscle weakness, Rhab... ORPHA:254854
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Camptodactyly of finger, Spinal muscular atrophy, Urinary incontinence... OMIM:604320
Aredyld Syndrome
Hepatomegaly, Lipoatrophy, Abnormal dental enamel morphology, Cachexia, Abnormality of the ureter... ORPHA:1133
Bare Lymphocyte Syndrome, Type I
Nasal polyposis, Bronchiectasis, Bronchiolitis, Emphysema, Chronic sinusitis, Recurrent bronchitis OMIM:604571
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Dentin Dysplasia With Sclerotic Bones
Dentinogenesis imperfecta limited to primary teeth, Cortical sclerosis OMIM:125440
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Productive cough, Atelectasis, Pulmonary artery stenosis, Recur... OMIM:615067
Tricho-Dento-Osseous Syndrome
Increased bone mineral density, Dental enamel pits, Periapical tooth abscess, Enamel hypominerali... ORPHA:3352
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Skeletal muscle atrophy, Abnormal pyramidal sign, Spastic tetraplegia, Scoliosis, Joint contracture OMIM:615419
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Lower limb spasticity, Babinski sign, Pseudobulbar paralysis, Scoliosis ORPHA:101006
Diencephalic Syndrome
Neoplasm of the nervous system, Long penis, Cachexia, Decreased body weight ORPHA:1672
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Urinary incontinence, Tremor, Chorea, Babinski sign, Dysmetria, G... OMIM:618093
Familial Cervical Artery Dissection
Abnormality of connective tissue, Facial palsy, Paralysis ORPHA:36382
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Proteinuria, Hyperlordosis, Tremor, Nephrotic syndrome, Hypertonia, Abnormal mitral valve morphol... ORPHA:1192
Eosinophilic Fasciitis
Myositis, Fasciitis, Weight loss, Cellulitis, Muscular edema ORPHA:3165
Mast Cell Sarcoma
Sarcoma, Hepatomegaly, Weight loss ORPHA:66661
Neuraminidase Deficiency
Skeletal muscle atrophy, Inguinal hernia, Hepatomegaly, Urinary excretion of sialylated oligosacc... OMIM:256550
Fucosidosis
Cervical platyspondyly, Hepatomegaly, Lumbar hyperlordosis, Ovoid vertebral bodies, Cardiomegaly,... OMIM:230000
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Facioscapulohumeral Dystrophy
Abnormal eyelash morphology, Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Cardiomyopathy... OMIM:612999
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis OMIM:616684
Combined Oxidative Phosphorylation Deficiency 18
Decreased activity of mitochondrial complex I, Increased mitochondrial number OMIM:615578
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Esophageal neoplasm, Hepatomegaly, Weight loss ORPHA:2198
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Kyphosis, Babinski sign, Flexion contracture, Spastic paraplegia, A... OMIM:609541
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Skeletal muscle atrophy, Ataxia, Cachexia, Methylmalonic aciduria, Aminoaciduria, Generalized hir... ORPHA:1933
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Myopathy, Mitochondrial, And Ataxia
Ataxia, Thick hair, Tremor, Dysmetria, Limb ataxia, Multiple lipomas, Distal amyotrophy, Dysdiado... OMIM:617675
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Failure to thrive in infancy, Facial hypotonia, Cachexia, Short neck, Hypertonia... OMIM:616801
Variegate Porphyria
Increased urinary porphobilinogen, Elevated urinary delta-aminolevulinic acid, Porphyrinuria, Par... OMIM:176200
Severe Congenital Nemaline Myopathy
Multiple prenatal fractures, Flexion contracture, Respiratory failure, Pulmonary hypoplasia, Arth... ORPHA:171430
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Ragged-red muscle fibers, Generalized limb muscle atrophy, Disti... OMIM:600462
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... ORPHA:94089
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, Gait ataxia, Weight loss, Aminoaciduria, Proximal tubulopathy, Failure to thrive OMIM:612075
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Urina... OMIM:606071
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Recurrent respiratory infections, Ankle flexion contracture, Micrognathia, Hyper... ORPHA:2020
Wilson Disease
Back pain, Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Jaundice, Increase... ORPHA:905
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis OMIM:614198
Hypophosphatemic Rickets, Autosomal Recessive, 1
Hypophosphatemic rickets, Increased bone mineral density, Rickets, Craniosynostosis OMIM:241520
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Myocarditis, Proximal muscle weakness in low... ORPHA:206569
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Hepatomegaly, Testicular neoplasm, Cachexia, Weight loss, Neoplasm of t... ORPHA:83469
Hepatic Veno-Occlusive Disease
Respiratory failure ORPHA:890
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Death in infancy, Tachypnea, Respiratory insufficiency, Respiratory failure OMIM:614299
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Keloids, Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Lymphatic Malformation 12
Neonatal respiratory distress, Pleural thickening, Death in adolescence, Neonatal death, Recurren... OMIM:620014
Multiple Mitochondrial Dysfunctions Syndrome 1
Death in infancy, Respiratory insufficiency, Respiratory failure, Neonatal death, Pulmonary arter... OMIM:605711
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Inguinal hernia, Failure to thrive OMIM:618603
Metaphyseal Dysplasia, Braun-Tinschert Type
Osteopenia, Increased bone mineral density, Sclerosis of proximal finger phalanx, Advanced pneuma... ORPHA:85188
Peroxisome Biogenesis Disorder 4A (Zellweger)
Epiphyseal stippling, Respiratory failure, Depressed nasal bridge, Death in infancy OMIM:614862
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Portal hypertension, Flexio... ORPHA:367
Osteopetrosis, Autosomal Recessive 4
Osteopetrosis, Increased bone mineral density, Sclerotic vertebral endplates, Recurrent fractures OMIM:611490
Mitochondrial Phosphate Carrier Deficiency
Abnormal mitochondrial shape OMIM:610773
Sarcoidosis, Susceptibility To, 2
Dyspnea, Pneumothorax, Bronchiectasis, Abnormal pulmonary interstitial morphology, Pulmonary infi... OMIM:612387
Galactose Epimerase Deficiency
Hepatomegaly, Jaundice, Aminoaciduria, Weight loss ORPHA:79238
Mitochondrial Complex I Deficiency, Nuclear Type 18
Death in infancy, Respiratory failure OMIM:618240
Niemann-Pick Disease, Type C2
Death in infancy, Neonatal respiratory distress, Respiratory insufficiency, Respiratory failure, ... OMIM:607625
Osteopetrosis, Autosomal Recessive 5
Increased bone mineral density, Micrognathia, Cranial hyperostosis, Respiratory failure, Stillbir... OMIM:259720
Albers-Schönberg Osteopetrosis
Osteomyelitis, Recurrent fractures, Mandibular osteomyelitis, Generalized osteosclerosis, Osteoar... ORPHA:53
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Nephronophthisis 2
Respiratory failure, Pulmonary hypoplasia, Respiratory insufficiency OMIM:602088
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Ataxia, Poor coordination, Limb ataxia, Decreased body weight, Spasticity OMIM:617695
Bannayan-Riley-Ruvalcaba Syndrome
Neoplasm of the adrenal cortex, Skeletal muscle atrophy, Cachexia, Visceral angiomatosis, Lymphom... ORPHA:109
Sanjad-Sakati Syndrome
Recurrent respiratory infections, Depressed nasal bridge, Abnormal dental enamel morphology, Patc... ORPHA:2323
Body Mass Index Quantitative Trait Locus 20
Increased bone mineral density OMIM:618406
Loeffler Endocarditis
Abnormal morphology of the chordae tendinae of the mitral valve, Pericarditis, Abnormal heart val... ORPHA:75566
Bone Dysplasia, Lethal Holmgren Type
Hepatomegaly, Short neck, Weight loss, Hernia, Atrial septal defect, Hypertrophic cardiomyopathy,... ORPHA:1842
Myotonia Permanens
Skeletal muscle hypertrophy, Generalized muscle hypertrophy, Hypertonia, Hyperlordosis ORPHA:99735
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Kyphosis, Babinski ... ORPHA:88644
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Scoliosis ORPHA:101082
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hypospadias, Hyperlordosis, Kyphosis, Synophrys, Low anterior hairline, Scoliosis OMIM:615761
Riddle Syndrome
Pneumonia, Bronchitis, Neonatal asphyxia, Recurrent pneumonia, Abnormal pulmonary interstitial mo... ORPHA:420741
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Atelectasis, Tachypnea, Respiratory insufficiency, Respiratory ... OMIM:618278
Poems Syndrome
Sclerosis of hand bone, Sclerosis of foot bone, Respiratory insufficiency due to muscle weakness,... ORPHA:2905
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, Increased in... OMIM:614487
Multiple Acyl-Coa Dehydrogenase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Scapular winging, Hepatomegaly, Hyperlord... ORPHA:26791
Mitochondrial Neurogastrointestinal Encephalomyopathy
Elevated hepatic transaminase, Decreased muscle mass, Cachexia, Ragged-red muscle fibers, Weight ... ORPHA:298
Combined Oxidative Phosphorylation Deficiency 11
Death in infancy, Respiratory failure, Stillbirth, Death in childhood, Neonatal death OMIM:614922
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive ORPHA:363717
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Weight los... ORPHA:157941
Acquired Ichthyosis
Renal insufficiency, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma ORPHA:454
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Flexion contracture, Synovitis, Increased suscepti... ORPHA:77297
Rett Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia... OMIM:312750
Aicardi-Goutieres Syndrome 9
Hypertonia, Hepatic fibrosis, Micropenis, Hepatic steatosis, Hepatomegaly, Portal hypertension, P... OMIM:619487
Craniometaphyseal Dysplasia
Craniofacial hyperostosis, Wide nasal bridge, Depressed nasal bridge, Osteopetrosis ORPHA:1522
Thymoma
Myositis, Glomerulonephritis, Neoplasm of head and neck, Weight loss, Neoplasm of the lung, Neopl... ORPHA:99867
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Obesity, EMG: myo... OMIM:615418
Trisomy 17P
Skeletal muscle atrophy, Hypoplasia of penis, Urethral valve, Short neck, Flexion contracture, Ur... ORPHA:261290
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Postural tremor, Abnormal pyramidal sign, Proximal amyotrophy, Distal am... OMIM:608627
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Flexion contracture, Tongue fasciculations, Oculomotor apraxia, Spasticity OMIM:614678
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis, ... ORPHA:449285
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Pseudobulbar paralysis, Fasciculations, Spasticity OMIM:105400
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Spasticity, Tetraparesis OMIM:617892
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Facial palsy, Abnormal muscle fiber morphology, Hyp... ORPHA:3068
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Dyspnea, Pneumothorax, Pulmonary infiltrates, Rest... ORPHA:538
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Mitral valve prolapse, Knee fl... OMIM:606631
12Q14 Microdeletion Syndrome
Wide nose, Prominent nasal bridge, Micrognathia, Osteopoikilosis, Scoliosis, Abnormal nostril mor... ORPHA:94063
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Camptodactyly of finger, Thoracolumbar scoliosis, Sh... OMIM:114300
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Lumbar hyperlordosis, Limb muscle weakness, Distal amyotrophy, Scoliosis, Vocal cord paresis OMIM:601152
Solitary Fibrous Tumor
Low back pain, Vaginal neoplasm, Soft tissue neoplasm, Genital neoplasm, Weight loss, Neoplasm of... ORPHA:2126
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Respiratory failure requiring assisted ventilation, Micrognathia, Fractures of the long bones, Re... ORPHA:496641
Sézary Syndrome
Skeletal muscle atrophy, Hepatomegaly, Alopecia, Cutaneous T-cell lymphoma, Tremor, Lymphoma, Nai... ORPHA:3162
Multiple Endocrine Neoplasia, Type Iib
Failure to thrive in infancy, Hyperlordosis, Kyphosis, Elevated urinary epinephrine level, Myopat... OMIM:162300
Classic Hodgkin Lymphoma
Hepatomegaly, Ataxia, Lymphoma, Weight loss, Neoplasm ORPHA:391
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Ataxia, Centrally nucleated skeletal muscle fibers, Ra... OMIM:607459
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Weight loss, Bradykinesia, Myoclonus, T... OMIM:137440
Ck Syndrome
Lumbar hyperlordosis, Slender build, Kyphoscoliosis ORPHA:251383
Amyotrophic Lateral Sclerosis 11
Skeletal muscle atrophy, Upper motor neuron dysfunction OMIM:612577
Three M Syndrome 1
Scapular winging, Small for gestational age, Hypospadias, Hyperlordosis, Short neck, Increased ve... OMIM:273750
Whim Syndrome
Sinusitis, Pneumonia, Respiratory tract infection, Atelectasis, Recurrent upper respiratory tract... ORPHA:51636
Mulchandani-Bhoj-Conlin Syndrome
Failure to thrive, Horseshoe kidney, Scoliosis, Hyperlordosis OMIM:617352
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Kyphosis, Increased skull ossification, Craniofacial osteosclerosis, Bu... OMIM:618476
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb spasticity, Lower limb muscle weakness, Babinski sign, Spastic paraplegia, Upper limb ... ORPHA:100986
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Platyspondyly, Neoplasm, Hemang... ORPHA:296
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetraparesis, Extrapyramidal dyskinesia, Apraxia OMIM:105550
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Respiratory failure, Micrognathia OMIM:607598
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Horner Syndrome, Congenital
Paralysis OMIM:143000
Non-Functioning Paraganglioma
Paraganglioma of head and neck, Elevated urinary norepinephrine level, Tremor, Elevated urinary d... ORPHA:94080
Melorheostosis, Isolated
Hyperostosis, Increased bone mineral density OMIM:155950
Mucopolysaccharidosis, Type Iva
Hepatomegaly, Inguinal hernia, Abnormal heart valve morphology, Ovoid vertebral bodies, Hyperlord... OMIM:253000
Zygomycosis
Sinusitis, Epistaxis, Atelectasis, Pneumothorax, Osteolysis, Pulmonary infiltrates, Acute infecti... ORPHA:73263
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Spasticity, Fasciculations OMIM:614808
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Tremor, Flexion contracture, Low anterior hairline, Limb tremor, Facial ... OMIM:218000
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Clo... ORPHA:370959
Pheochromocytoma/Paraganglioma Syndrome 2
Vagal paraganglioma, Glomus tympanicum paraganglioma, Vocal cord paralysis, Chemodectoma, Glomus ... OMIM:601650
Schnitzler Syndrome
Arthritis, Increased bone mineral density ORPHA:37748
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paroxysmal nocturnal hemoglobinuria, Paralysis OMIM:612300
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Recurrent respiratory infections, Delayed eruption of teeth, Death in infa... ORPHA:534
Neuropathy, Hereditary, With Liability To Pressure Palsies
Vocal cord paralysis, Hand muscle weakness OMIM:162500
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Exaggerated startle response, Multiple joint contractures, Distal a... ORPHA:320406
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type
Respiratory failure ORPHA:70472
Fanconi Anemia, Complementation Group E
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Deficient... OMIM:600901
Osteosclerosis With Ichthyosis And Fractures
Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures OMIM:166740
Neuroblastoma, Susceptibility To, 1
Ataxia, Elevated urinary catecholamine level, Ganglioneuroblastoma, Elevated urinary dopamine lev... OMIM:256700
Liposarcoma
Sarcoma, Weight loss ORPHA:69078
Renpenning Syndrome
Skeletal muscle atrophy, Alopecia, Abnormal hairshaft morphology, Hypospadias, Cachexia, Thin eye... ORPHA:3242
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Congenital Disorder Of Glycosylation, Type Iio
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Copper accumulation in live... OMIM:616828
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Inguinal hernia, Hypospadias, Tetraplegia, Opisthotonus, Hypertonia, Fai... OMIM:619272
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis, Weight loss OMIM:188580
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Cardiomegaly, Hyperlo... ORPHA:268
Cerebral Cavernous Malformations 3
Cerebral cavernous malformation, Paralysis OMIM:603285
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Respiratory failure OMIM:613435
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Dyspnea, Osteolysis, Abnormal pulmonary interstiti... ORPHA:35687
Split Cord Malformation
Back pain, Urinary incontinence, Functional abnormality of the bladder, Hemivertebrae, Capillary ... ORPHA:573278
Osteopetrosis, Autosomal Recessive 9
Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis OMIM:620366
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... ORPHA:276241
Arterial Tortuosity Syndrome
Respiratory distress, Craniosynostosis, Abnormal zygomatic bone morphology, Pulmonary artery sten... ORPHA:3342
8P23.1 Microdeletion Syndrome
Hypospadias, Congenital diaphragmatic hernia, Short neck, Obesity, Weight loss, Hypertrophic card... ORPHA:251071
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Clonus, Ragged-red muscle fibers, Abnormal pyramidal sign, Babin... OMIM:616479
Desmosterolosis
Hypoplastic nasal bridge, Anteverted nares, Micrognathia, Generalized osteosclerosis, Total anoma... OMIM:602398
Lujo Hemorrhagic Fever
Respiratory distress, Stiff neck, Crackles, Atelectasis, Nonproductive cough, Rhinitis ORPHA:319213
Leigh Syndrome
Respiratory failure, Abnormal pattern of respiration, Respiratory insufficiency OMIM:256000
Huntington Disease
Clonus, Involuntary movements, Rigidity, Chorea, Babinski sign, Clumsiness, Weight loss, Bradykin... ORPHA:399
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Spastic tetraplegia, Abnormality of extrapyramidal motor function, Scoli... OMIM:619527
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Achilles tendon contracture, Respiratory failure, Reduced vital capacity, Nocturnal hypoventilation OMIM:603689
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Histiocytoma, Limb muscle weakness, Prematu... OMIM:112250
Car T Cell Therapy-Associated Cytokine Release Syndrome
Tachypnea, Hypoxemia, Respiratory failure, Pleural effusion, Pulmonary edema ORPHA:542323
Fanconi Anemia, Complementation Group A
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Deficient... OMIM:227650
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Multiple Endocrine Neoplasia Type 2
Reduced subcutaneous adipose tissue, Multiple mucosal neuromas, Cervical neoplasm, Paraganglioma ... ORPHA:653
Camurati-Engelmann Disease
Skeletal muscle atrophy, Hepatomegaly, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, A... ORPHA:1328
Neuromyelitis Optica Spectrum Disorder
Respiratory failure ORPHA:71211
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Highly arched eyebrow, Short neck, Secundum atrial septal defect, Babins... OMIM:615802
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Camptodactyly of ... ORPHA:2926
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Elevated hepatic transaminase, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fiber... OMIM:620138
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Urinary incontinence, Rigidity, Babinski sign, Dysmetria, ... OMIM:183090
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... ORPHA:276198
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis, Exostoses OMIM:165800
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Urinary incontinence, Tremor, Babinski sign, Spastic paraplegia, Tetrapl... OMIM:616586
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis OMIM:619719
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Abnormal pyramidal sign, Upper limb muscle w... ORPHA:254930
Deafness-Lymphedema-Leukemia Syndrome
Recurrent respiratory infections, Respiratory failure ORPHA:3226
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Spasticity, Babinski sign OMIM:612069
Xeroderma Pigmentosum, Complementation Group A
Ataxia, Defective DNA repair after ultraviolet radiation damage, Choreoathetosis, Melanoma, Squam... OMIM:278700
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypospadias ORPHA:2013
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraplegia, Knee flexi... ORPHA:371364
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Postural tremor, Chorea, Slurred speech, Dysmetria, Abnormality of masti... ORPHA:98755
Kaposi Sarcoma
Lymphoproliferative disorder, Neoplasm by anatomical site, Weight loss, Abnormality of the liver,... ORPHA:33276
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Ventricular septal defect, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, A... OMIM:618870
Central Hypoventilation Syndrome, Congenital, 3
Respiratory failure, Apnea, Central hypoventilation OMIM:619483
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Ataxia, Slurred speech, Myoclonus, Nephritis OMIM:274240
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Scoliosis, A... ORPHA:559
Follicular Lymphoma
Lymphoma, Weight loss ORPHA:545
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Increased bone mineral density, O... ORPHA:289176
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Ventricular septal defect, Kyphosis, Knee flexion co... OMIM:603387
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Respiratory failure, Tachypnea, Death in childhood OMIM:615838
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Combined Oxidative Phosphorylation Deficiency 13
Choreoathetosis, Skeletal muscle atrophy OMIM:614932
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Babinski sign, Dysme... OMIM:270550
Glycogen Storage Disease Due To Acid Maltase Deficiency, Infantile Onset
Respiratory distress, Respiratory failure requiring assisted ventilation, Respiratory tract infec... ORPHA:308552
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Small for gestational age, Hypoplasia of the musculature, Abnormal heart... ORPHA:85323
Tibial Muscular Dystrophy
Respiratory failure ORPHA:609
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Increased bone mineral density, Osteopetrosis, Micrognathia OMIM:617306
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Joint laxity, Anteverted nares, Depressed nasal bridge, Flexion contracture, Retrognathia, Respir... ORPHA:254528
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... OMIM:211530
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Neurogenic bladder, Babinski sign, Abnormal pyramidal sign, Progressive ... ORPHA:513436
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Tremor, Spastic tetraplegia, Dysmetria, Cardiomyopathy, Athetosi... OMIM:617710
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Joint contracture of the hand, Scoliosis, ... OMIM:609033
Nijmegen Breakage Syndrome
Recurrent sinopulmonary infections, Recurrent respiratory infections, Depressed nasal bridge, Pro... ORPHA:647
Gaucher Disease
Osteopenia, Death in infancy, Increased bone mineral density, Osteomyelitis, Recurrent fractures,... ORPHA:355
Oculocerebrofacial Syndrome, Kaufman Type
Respiratory distress, Micrognathia, Dyspnea, Respiratory failure, Retrognathia ORPHA:2707
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Hepatomegaly, Elevated circulating aspartate aminotransferase concentrat... OMIM:257200
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Curly hair, Ataxia, Hyperlordosis, Mitral valve prolapse, Hypertonia, Scoliosis, Atrial septal de... OMIM:300986
X-Linked Agammaglobulinemia
Alopecia, Hepatitis, Weight loss, Neoplasm, Cellulitis, Failure to thrive ORPHA:47
Microhydranencephaly
Skeletal muscle atrophy, Multiple joint contractures, Spastic tetraplegia, Athetosis, Generalized... OMIM:605013
Mercury Poisoning
Respiratory distress, Dyspnea, Interstitial pneumonitis, Respiratory failure ORPHA:330021
Autosomal Recessive Cerebellar Ataxia With Late-Onset Spasticity
Lower limb spasticity, Urinary incontinence, Babinski sign, Abnormal pyramidal sign, Truncal atax... ORPHA:352641
Donohue Syndrome
Skeletal muscle atrophy, Adipose tissue loss, Long penis, Cholestasis, Hepatic fibrosis, Severe f... OMIM:246200
Cutis Laxa, Autosomal Recessive, Type Iie
Inguinal hernia, Lumbar hyperlordosis, Ovoid vertebral bodies, Highly arched eyebrow, Long eyelas... OMIM:619451
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Oculomotor apraxia, Skeletal muscle atrophy, Hypospadias, Highly arched eyebrow OMIM:619759
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture ORPHA:457205
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hyperlordosis, Scoliosis, Shagreen patch ORPHA:2511
22Q11.2 Deletion Syndrome
Abnormal dental enamel morphology, Choanal atresia, Micrognathia, Carious teeth, Atelectasis, Ast... ORPHA:567
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... OMIM:614153
Attrv30M Amyloidosis
Cardiomegaly, Weight loss, Cardiomyopathy, Nephropathy, Abnormal renal physiology ORPHA:85447
Acth-Independent Macronodular Adrenal Hyperplasia
Truncal obesity, Neoplasm, Kyphosis, Skeletal muscle atrophy OMIM:219080
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal
Death in infancy, Neonatal respiratory distress, Apnea, Bulbous nose, Elbow flexion contracture, ... OMIM:608836
Mucopolysaccharidosis, Type Ivb
Hepatomegaly, Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hyp... OMIM:253010
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy ORPHA:99944
Cronkhite-Canada Syndrome
Hepatomegaly, Alopecia, Cachexia, Hamartomatous polyposis, Dystrophic toenail, Neoplasm, Patchy a... ORPHA:2930
Encephalocraniocutaneous Lipomatosis
Alopecia, Lipodystrophy, Neoplasm of the skeletal system, Paralysis, Rigidity, Visceral angiomato... ORPHA:2396
Focal Myositis
Myositis, Weight loss ORPHA:48918
Camurati-Engelmann Disease
Mandibular prognathia, Increased bone mineral density, Carious teeth, Diaphyseal sclerosis, Corti... OMIM:131300
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... OMIM:300232
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Babinski sign, Prominent eyelashes, Hyperkinetic movements, Spasticity, ... OMIM:616420
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Secundum atrial septal defect, Elevated circulating alanine aminotransfe... OMIM:614300
Cystic Echinococcosis
Elevated hepatic transaminase, Hepatomegaly, Jaundice, Renal cyst, Abnormal heart morphology, Wei... ORPHA:400
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Facial-lingual fascicu... ORPHA:276244
Combined Oxidative Phosphorylation Deficiency 4
Death in infancy, Respiratory failure OMIM:610678
Insulin Autoimmune Syndrome
Weight loss ORPHA:411593
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Small for gestational age, Facial hypotonia, Mitral val... OMIM:216550
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Tachypnea, Rickets, Abnormal pulmonary interstitial morphology, Respira... OMIM:613658
Nephroblastoma
Weight loss, Neoplasm of the lung, Neoplasm of the liver, Hematuria, Neoplasm, Nephroblastoma ORPHA:654
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Skeletal muscle atrophy, Hypertrophic cardiomyopathy, Hypertonia, Opisthotonus OMIM:616896
Brain-Lung-Thyroid Syndrome
Respiratory distress, Recurrent respiratory infections, Neonatal respiratory distress, Asthma, Re... ORPHA:209905
Thymic Carcinoma
Neoplasm of the thymus, Diaphragmatic paralysis, Weight loss ORPHA:99868
Stiff-Person Syndrome
Exaggerated startle response, Lumbar hyperlordosis, Rigidity, Opisthotonus, Proximal limb muscle ... OMIM:184850
Alveolar Echinococcosis
Low back pain, Liver abscess, Ataxia, Abnormal pericardium morphology, Cholangitis, Portal hypert... ORPHA:284
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Pericardial effusion, Babinski sign, Gait ataxia, Cardiomyopathy... OMIM:620089
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Cowden Syndrome
Neoplasm of the central nervous system, Hamartomatous polyposis, Neoplasm, Papilloma, Conjunctiva... ORPHA:201
Severe Neurodegenerative Syndrome With Lipodystrophy
Respiratory failure ORPHA:363400
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Small for gestational age, Methylmalonic aciduria, Athetosis, Facial dip... OMIM:612073
Granulomatous Disease, Chronic, X-Linked
Osteomyelitis, Atelectasis, Recurrent pneumonia, Air bronchogram, Cough, Pleural effusion OMIM:306400
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Highly arched eyebrow, Hyperlordosis, Short neck, Elbow flexion contractur... OMIM:615065
Sporadic Pheochromocytoma/Secreting Paraganglioma
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Proteinuria, Elevated urinary nore... ORPHA:276621
Lenz-Majewski Hyperostotic Dwarfism
Mandibular prognathia, Increased bone mineral density, Abnormal dental enamel morphology, Choanal... ORPHA:2658
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ataxia, Urinary incontinence, Flexion contracture, Hyperkinetic movement... OMIM:300243
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Ataxia, Flexion contracture, Spasticity, Failur... ORPHA:481152
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Hepatomegaly, Flexion contracture, Generalized lipodystrophy, ... OMIM:619183
Mucolipidosis Iii Gamma
Hyperlordosis, Short neck, Kyphosis, Scoliosis, Aortic valve stenosis OMIM:252605
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Skeletal muscle atrophy, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Skeletal muscle atrophy, Fasciculations OMIM:616437
Ehlers-Danlos Syndrome, Classic-Like
Quadricuspid aortic valve, Unilateral renal agenesis, Increased connective tissue, Hiatus hernia,... OMIM:606408
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, Facial diplegia, Facial paralysis, Failure to thrive OMIM:613559
Intellectual Developmental Disorder, Autosomal Dominant 52
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Overweight, Synophrys, Low ant... OMIM:617796
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Urinary incontinence, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, U... ORPHA:466768
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Micrognathia, Hypoplasia of the maxilla, Short neck, Flexion contracture, ... ORPHA:96334
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Elevated hepatic transaminase, Skeletal muscle atrophy, Small for gestational age, Ataxia, Hyposp... OMIM:615471
Mu-Heavy Chain Disease
Hepatomegaly, Nephropathy, Bence Jones Proteinuria, Weight loss ORPHA:100024
Bardet-Biedl Syndrome
Medial flaring of the eyebrow, Skeletal muscle atrophy, Hypoplasia of penis, Multicystic kidney d... ORPHA:110
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Abnormal heart morphology, Cardiomyopathy, Left ven... ORPHA:1344
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Urinary incontinence, Hiatus hernia, Hoffmann sign, Babins... OMIM:601162
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Chorea, Choreoathetosis, Complex organic ac... ORPHA:506
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:143
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Skeletal muscle atrophy, Myositis, Biliary atresia, Calf muscle hypertrophy, Proximal muscle weak... ORPHA:565899
Xeroderma Pigmentosum, Complementation Group E
Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Defective DNA repair after u... OMIM:278740
Bloom Syndrome
Pneumonia, Bronchitis, Micrognathia, Respiratory tract infection, Chronic pulmonary obstruction, ... ORPHA:125
Mucopolysaccharidosis Type 4
Abnormal heart valve morphology, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Gr... ORPHA:582
Mitochondrial Complex I Deficiency, Nuclear Type 10
Respiratory failure, Apnea, Central hypoventilation OMIM:618233
Carnitine Palmitoyl Transferase 1A Deficiency
Elevated hepatic transaminase, Hepatomegaly, Skeletal muscle atrophy, Hemiplegia/hemiparesis, Ren... ORPHA:156
Hirschsprung Disease
Neoplasm of the thyroid gland, Failure to thrive in infancy, Weight loss ORPHA:388
Gitelman Syndrome
Ataxia, Polyuria, Paralysis, Renal magnesium wasting, Rhabdomyolysis, Nocturia, Enuresis, Hypocal... OMIM:263800
Joubert Syndrome 37
Hepatomegaly, Lumbar hyperlordosis, Obesity, Sparse hair, Oculomotor apraxia, Micropenis, Hydrone... OMIM:619185
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Tibialis muscle weakness, Babinski sign, Upper li... ORPHA:320375
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Inguinal hernia, Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-... OMIM:184250
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Pituitary adenoma, Obesity, Nephrolithiasis, Abdominal obesity... OMIM:219090
Mucopolysaccharidosis, Type X
Thickened aortic valve cusp, Hyperlordosis, Nephrolithiasis, Dermatan sulfate excretion in urine,... OMIM:619698
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Osteopenia, Abnormally ossified vertebrae, Abnormal intervertebral disk morphology, Osteomalacia,... ORPHA:2636
Distal Deletion 10Q
Scapular winging, Lumbar hyperlordosis, Ataxia, Clonus, Oculomotor apraxia, Functional abnormalit... ORPHA:96148
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... OMIM:613254
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hepatomegaly, Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Synophrys, Obesity, Scoli... OMIM:618443
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Hyperlordosis, Tremor, Chore... OMIM:615356
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Generalized hirsutism, Sarcoma ORPHA:626
Glossopharyngeal Neuralgia
Schwannoma, Vocal cord paralysis, Weight loss, Neoplasm, Abnormality of the cervical spine ORPHA:221098
Rhizomelic Chondrodysplasia Punctata, Type 5
Contractures of the large joints, Thoracic scoliosis, Skeletal muscle atrophy OMIM:616716
Mulibrey Nanism
Hepatomegaly, Cachexia ORPHA:2576
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased muscle mass, Vocal cord paralysis, Intrinsic hand muscle atrophy, Knee flexion contracture OMIM:615490
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Scoliosis, Arthrogryposis multiplex congenita OMIM:617143
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis, Small for gestational age, Secundum atrial septal defect, Glandular hypospa... ORPHA:1439
3-Methylglutaconic Aciduria Type 7
Respiratory failure, Pneumothorax ORPHA:445038
Cog8-Cdg
Elevated hepatic transaminase, Skeletal muscle atrophy, Ataxia, Myoclonus, Failure to thrive ORPHA:95428
Xeroderma Pigmentosum, Complementation Group C
Defective DNA repair after ultraviolet radiation damage, Basal cell carcinoma, Squamous cell carc... OMIM:278720
3M Syndrome
Scapular winging, Hypospadias, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Incr... ORPHA:2616
Three M Syndrome 2
Scapular winging, Lumbar hyperlordosis, Small for gestational age, Hyperlordosis, Short neck OMIM:612921
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
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Dark urine, Skeletal muscle atrophy, Recurrent myoglobinuria, Glycogen accumulation in muscle fib... ORPHA:368
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy OMIM:205250
Muscular Dystrophy, Congenital, Megaconial Type
Mitochondrial hypertrophy OMIM:602541
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... ORPHA:79444
Spinocerebellar Ataxia 1
Skeletal muscle atrophy, Chorea, Babinski sign, Dysmetria, Limb ataxia, Progressive cerebellar at... OMIM:164400
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Supernumerary nipple, Babinski sign, Abnormal pyramidal sign, Failure to... OMIM:617339
Usmani-Riazuddin Syndrome, Autosomal Dominant
Spasticity, Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Tuberous Sclerosis 1
Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Chromosome 10Q26 Deletion Syndrome
Omphalocele, Scapular winging, Lumbar hyperlordosis, Small for gestational age, Short neck, Vesic... OMIM:609625
Schimke Immuno-Osseous Dysplasia
Lumbar hyperlordosis, Lymphoproliferative disorder, Small for gestational age, Ovoid vertebral bo... ORPHA:1830
Triosephosphate Isomerase Deficiency
Respiratory distress, Death in infancy, Respiratory insufficiency due to muscle weakness, Kyphosi... OMIM:615512
Moynahan Syndrome
Sparse hair, Alopecia, Cachexia ORPHA:2574
Stiff Person Spectrum Disorder
Rigidity, Exaggerated startle response, Lumbar hyperlordosis, Paraspinal muscle hypertrophy ORPHA:3198
Paget Disease Of Bone 5, Juvenile-Onset
Osteopenia, Increased bone mineral density, Recurrent fractures, Ankylosis, Kyphosis, Osteoporosis OMIM:239000
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Macroglossia, Platy... OMIM:607095
Hereditary Pheochromocytoma-Paraganglioma
Arachnoid hemangiomatosis, Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Protein... ORPHA:29072
Gaucher Disease Type 3
Recurrent respiratory infections, Increased bone mineral density, Abnormal pulmonary interstitial... ORPHA:77261
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Spasticity, Paralysis ORPHA:803
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Decreased urinary potassium, Rhabdomyolysis,... ORPHA:79102
Oculogastrointestinal Muscular Dystrophy
Abnormal mitral valve morphology, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyph... ORPHA:85293
Oculoskeletodental Syndrome
Hyperlordosis, Nephrocalcinosis, Abnormality of the frontal hairline, Thoracic kyphosis, Scoliosi... ORPHA:557003
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Autoimmune Hypoparathyroidism
Dyspnea, Increased bone mineral density ORPHA:36913
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Depressed nasal bridge, Short neck, Dy... ORPHA:79443
Cataract-Intellectual Disability-Hypogonadism Syndrome
Low posterior hairline, Scoliosis, Hyperlordosis ORPHA:1387
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Hepatomegaly, Limb joint contracture, Ataxia, Postural tremor, Micronodu... OMIM:301072
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... OMIM:157640
Pseudomyxoma Peritonei
Hernia, Weight loss ORPHA:26790
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Tetraparesis ORPHA:140989
Japanese Encephalitis
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... ORPHA:79139
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Joubert Syndrome 21
Apnea, Dyspnea, Single naris, Respiratory failure, Pulmonary hypoplasia, Chronic sinusitis OMIM:615636
De Sanctis-Cacchione Syndrome
Ataxia, Babinski sign, Scissor gait, Defective DNA repair after ultraviolet radiation damage, Cho... OMIM:278800
Fanconi Anemia, Complementation Group D2
Small for gestational age, Ectopic kidney, Horseshoe kidney, Abnormal heart morphology, Micropeni... OMIM:227646
Cartilage-Hair Hypoplasia
Hepatomegaly, Abnormally ossified vertebrae, Abnormality of chromosome stability, Biconvex verteb... ORPHA:175
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Ventricular septal defect, Ataxia, Knee flexion contractu... ORPHA:435638
Medullary Thyroid Carcinoma
Neoplasm of the skeletal system, Weight loss, Neoplasm of the lung, Abnormal liver parenchyma mor... ORPHA:1332
Chand Syndrome
Atelectasis, Depressed nasal bridge, Agenesis of maxillary incisor ORPHA:1401
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Spinal rigidity, Dilated cardiomyopathy, F... OMIM:253800
Xeroderma Pigmentosum, Complementation Group D
Ataxia, Defective DNA repair after ultraviolet radiation damage, Choreoathetosis, Melanoma, Spast... OMIM:278730
Thymic Neuroendocrine Tumor
Calcium nephrolithiasis, Pituitary null cell adenoma, Pancreatic islet cell adenoma, Neoplasm of ... ORPHA:97289
Three M Syndrome 3
Small for gestational age, Hyperlordosis, Short neck, Increased vertebral height, Decreased body ... OMIM:614205
Axial Osteomalacia
Increased bone mineral density, Osteomalacia OMIM:109130
Graft Versus Host Disease
Elevated hepatic transaminase, Skeletal muscle atrophy, Fasciitis, Dupuytren contracture, Lipodys... ORPHA:39812
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy OMIM:617255
Peripartum Cardiomyopathy
Orthopnea, Crackles, Dyspnea, Asthma, Respiratory failure, Paroxysmal dyspnea, Pulmonary arterial... ORPHA:563
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Hepatomegaly, Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of ... ORPHA:508533
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Babinski sign, Tetraplegia, Pollakisuri... ORPHA:447760
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Paralysis, Paraparesis, Abnormal skeletal... ORPHA:2912
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Tremor, Vocal cord paralysis, Myopathy, Increased variabili... ORPHA:397744
Felty Syndrome
Hepatomegaly, Pericarditis, Lymphoma, Weight loss, Cellulitis ORPHA:47612
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Hypoplasia of penis, Truncal obesity, Sparse hair, Camptodactyly of toe,... ORPHA:127
Muscular Dystrophy, Congenital, With Or Without Seizures
Respiratory distress, Respiratory failure OMIM:620166
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hypospadias, Hyperlordosis, Short neck, Kyphosis, Abnormality of the ureter, Fused cervical verte... ORPHA:2522
Thoracic Dysplasia-Hydrocephalus Syndrome
Respiratory failure, Depressed nasal ridge ORPHA:1861
Hypercalcemia, Infantile, 1
Polyuria, Nephrolithiasis, Hypercalciuria, Weight loss, Nephrocalcinosis, Failure to thrive, Medu... OMIM:143880
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Short neck, Flexion contracture, Thoracic kyphosis, Hernia, Atrial septal defect, Patent foramen ... ORPHA:505248
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Marden-Walker Syndrome
Abnormal penis morphology, Skeletal muscle atrophy, Multicystic kidney dysplasia, Hydroureter, Ve... ORPHA:2461
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Dilated cardiomyopathy, Weight loss, EMG: myop... OMIM:164310
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia, Urinary incontinence OMIM:105300
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Low posterior hairline, Vertebral segmentation defect, Sc... ORPHA:1323
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Mitochondrial hypertrophy OMIM:619518
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Alopecia... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Bicuspid aortic valve, Vesicoureteral reflux, Atrial septal defect, Alopecia... ORPHA:363958
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Parkinsonism, Paralysis OMIM:105500
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Symptomatic Form Of Hfe-Related Hemochromatosis
Hepatomegaly, Decreased muscle mass, Cholangiocarcinoma, Portal hypertension, Cardiomegaly, Weigh... ORPHA:465508
Peritoneal Cystic Mesothelioma
Neoplasm, Weight loss ORPHA:168816
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatic steatosis, Hepatomegaly, Hypospad... ORPHA:17
Benign Recurrent Intrahepatic Cholestasis
Elevated hepatic transaminase, Jaundice, Weight loss, Acholic stools, Cholestatic liver disease, ... ORPHA:65682
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Respiratory distress, Respiratory insufficiency due to muscle weakness, Respiratory failure, Deat... OMIM:220110
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Dysmetria, Titubation, Gait ataxia, Head tremor ORPHA:98771
Dermatomyositis
Abnormal hair quantity, Pericarditis, Gastrointestinal stroma tumor, Myocarditis, Lymphoma, Breas... ORPHA:221
Barth Syndrome
Abnormal mitochondrial morphology OMIM:302060
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Sandhoff Disease
Skeletal muscle atrophy, Exaggerated startle response, Hepatomegaly, Ataxia, Urinary incontinence... OMIM:268800
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Skeletal muscle atrophy, Frequent falls, Tongue fasciculations, Hand tremor OMIM:162400
Malignant Peritoneal Mesothelioma
Neoplasm, Weight loss ORPHA:168811
Relapsing Polychondritis
Atelectasis, Dyspnea, Limitation of joint mobility, Arthritis, Cough, Abnormal pattern of respira... ORPHA:728
X-Linked Hypophosphatemia
Odontodysplasia, Craniosynostosis, Generalized osteosclerosis, Sacroiliac joint synovitis, Limita... ORPHA:89936
Lateral Meningocele Syndrome
Inguinal hernia, Ventricular septal defect, Hyperlordosis, Short neck, Kyphosis, Abnormal form of... ORPHA:2789
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Synophrys, Spastic paraplegia, Opisthotonus, Choreoathetosis, Mi... OMIM:614969
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2
Hip contracture, Death in infancy, Anteverted nares, Depressed nasal bridge, Micrognathia, Short ... OMIM:300868
Distal 22Q11.2 Microdeletion Syndrome
Inguinal hernia, Ventricular septal defect, Camptodactyly of finger, Highly arched eyebrow, Hyper... ORPHA:261330
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Dilated cardiomyopathy, Squamous cell carcinoma, At... ORPHA:89842
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Respiratory failure, Death in childhood OMIM:619847
Myhre Syndrome
Mandibular prognathia, Vertebral fusion, Prominent nasal bridge, Joint stiffness, Hypoplasia of t... OMIM:139210
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Hydroureter, Camptodactyly of finger, Interphalangeal ... OMIM:305620
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease
Increased urinary cortisol level, Hepatic steatosis, Alopecia, Dorsocervical fat pad, Pituitary a... ORPHA:189427
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Hepatomegaly, Lumbar hyperlordosis, Failure to thrive in infancy, Portal... OMIM:613385
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Hepatomegaly, Neurogenic bladder, Elevated circulating aspartate aminotr... OMIM:608779
Familial Pancreatic Carcinoma
Back pain, Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, ... ORPHA:1333
Oxoglutaric Aciduria
Skeletal muscle atrophy, Ataxia, Abnormality of Krebs cycle metabolism, Hypertonia, Abnormal urin... ORPHA:31
Takayasu Arteritis
Abnormal endocardium morphology, Abnormal heart valve morphology, Weight loss, Abnormal aortic va... ORPHA:3287
Keutel Syndrome
Peripheral pulmonary artery stenosis, Sinusitis, Miscarriage, Cartilaginous ossification of nose,... OMIM:245150
Combined Oxidative Phosphorylation Defect Type 23
Stridor, Respiratory failure, Paroxysmal dyspnea ORPHA:444013
3Mc Syndrome
Diastasis recti, Highly arched eyebrow, Hyperlordosis, Supernumerary nipple, Prominent coccyx, Sc... ORPHA:293843
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Mucolipidosis Type Ii
Hip contracture, Inguinal hernia, Dry hair, Abnormal mitral valve morphology, Diastasis recti, Ky... ORPHA:576
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis OMIM:300857
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Ataxia, Cachexia, Kyphosis, Choreoathetosis, Scoliosis, Spasticity ORPHA:702
Congenital Tracheomalacia
Apnea, Tracheobronchomalacia, Cough, Emphysema, Neonatal respiratory distress, Intercostal retrac... ORPHA:95430
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Urinary incontinence, Sparse eyebrow, Syn... OMIM:617193
Thoracomelic Dysplasia
Hyperlordosis, Low posterior hairline, Short neck ORPHA:1803
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Dilated cardiomyopathy, Cho... OMIM:615895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Rett Syndrome
Skeletal muscle atrophy, Limb apraxia, Bradykinesia, Cholecystitis, Scoliosis, Failure to thrive ORPHA:778
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Diffuse leiomyomatosis, Tracheobronchial leiomyomatosis, Vulvar neoplasm, Vaginal neoplasm, Prote... ORPHA:1018
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Short neck, Low anterior hairline, Ataxia, Hyperlordosis, Unilateral renal hypoplasia, Scoliosis,... OMIM:619950
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 1
Bradypnea, Respiratory failure, Death in childhood OMIM:617186
Sclerosteosis 1
Mandibular prognathia, Depressed nasal bridge, Sclerotic scapulae, Dental malocclusion, Wide nasa... OMIM:269500
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myopathy, Wea... ORPHA:98673
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Spinal rigidity, Flexion co... OMIM:254940
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Depressed nasal bridge, Convex nasal ridge, Patchy osteosclerosis, Micrognathia OMIM:241410
Mitochondrial Complex I Deficiency, Nuclear Type 29
Decreased activity of mitochondrial complex I, Mitochondrial swelling OMIM:618250
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Focal segmental glomerulosclerosis, ... OMIM:616239
Atypical Werner Syndrome
Skeletal muscle atrophy, Abnormal hair whorl, Premature graying of hair, Neoplasm of the breast, ... ORPHA:79474
Al Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Abnormal cardiac ventricle morphology, Abnormal h... ORPHA:85443
Trichorhinophalangeal Syndrome Type 1
Sparse eyelashes, Camptodactyly of finger, Hyperlordosis, Sparse eyebrow, Leukonychia, Scoliosis,... ORPHA:77258
Multicentric Reticulohistiocytosis
Cachexia ORPHA:139436
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Inguinal hernia, Hypoplasia of penis, Camptodactyly of finger, Aplasia/H... ORPHA:2990
Aggressive Systemic Mastocytosis
Portal hypertension, Hematological neoplasm, Hepatosplenomegaly, Weight loss, Decreased liver fun... ORPHA:98850
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital muscular torticollis, Camptodactyly of finge... ORPHA:2215
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Neoplasm, Thymoma, Proximal amyotrophy OMIM:159400
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Spasticity, High anterior hairline OMIM:618862
Pleural Mesothelioma
Hepatomegaly, Weight loss ORPHA:50251
Dystonia-Aphonia Syndrome
Abnormal mitochondrial shape ORPHA:412217
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy ORPHA:2400
Central Diabetes Insipidus
Failure to thrive, Nocturia, Weight loss ORPHA:178029
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Costello Syndrome
Hyperextensibility of the finger joints, Anteverted nares, Depressed nasal bridge, Limited elbow ... OMIM:218040
Gitelman Syndrome
Neoplasm of the pancreas, Proteinuria, Urinary incontinence, Paralysis, Pericardial effusion, Dec... ORPHA:358
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Increased sarcoplasmic glyc... ORPHA:264580
Acute Myelomonocytic Leukemia
Weight loss ORPHA:517
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Renal insufficiency, Proteinuria, Abnormal pericardium morphology, Myocarditis, Hemiple... ORPHA:183
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Inguinal hernia, Hyperlordosis, Short neck, Abnormal form of the vertebral bodies, Umbilical hernia ORPHA:3218
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Tachypnea, Anomalous pulmonary venous return,... ORPHA:555874
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Respiratory failure, Osteopetrosis ORPHA:3240
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Atrial septal defect, Lower limb dysmetria, Ventricular septal defect, Kyphoscoliosis, Hyperlordo... ORPHA:363700
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Systemic Mastocytosis With Associated Hematologic Neoplasm
Acute myeloid leukemia, Hepatomegaly, Myelodysplasia, Hematological neoplasm, Lymphoma, Weight lo... ORPHA:98849
Simple Cryoglobulinemia
Viral hepatitis, Pericarditis, Membranoproliferative glomerulonephritis, Renal insufficiency, B-c... ORPHA:91139
Trichodermodysplasia-Dental Alterations Syndrome
Sparse scalp hair, Brittle hair, Hyperlordosis, Fine hair, Sparse or absent eyelashes, Adenoma se... ORPHA:3353
Hereditary Amyloidosis With Primary Renal Involvement
Hepatomegaly, Renal insufficiency, Proteinuria, Nocturia, Hepatosplenomegaly, Weight loss, Myopat... ORPHA:85450
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Lumbar hyperlordosis, Renal insufficiency, Proteinuria, Contrac... ORPHA:2614
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Apnea, Recurrent fractures, Craniosy... ORPHA:667
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta, Mitral valve prolapse ORPHA:230839
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Nephropathy, Proteinuria, Camptodactyly of finger, Cachexia ORPHA:2774
Ulbright-Hodes Syndrome
Respiratory distress, Depressed nasal bridge, Micrognathia, Short neck, Pneumothorax, Humeroradia... ORPHA:3404
Systemic Capillary Leak Syndrome
Pericarditis, Renal insufficiency, Myocarditis, Oliguria, Weight loss, Multiple myeloma ORPHA:188
Autosomal Recessive Spastic Paraplegia Type 20
Speech apraxia, Skeletal muscle atrophy, Dysuria, Babinski sign, Slurred speech, Upper limb muscl... ORPHA:101000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Alopecia, Abnormal dental enamel morphology, Highly arched eyebrow, Hyperlordosis, Synophrys, Abn... ORPHA:3253
Scleroderma, Familial Progressive
Chromosome breakage, Abnormality of chromosome stability OMIM:181750
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia ORPHA:1144
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Abnormal curvature of the ver... ORPHA:168572
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Speech apraxia, Incoordination, Elevated hepatic transaminase... ORPHA:297
Listeriosis
Respiratory distress, Back pain, Stiff neck, Osteomyelitis, Pneumonia, Miscarriage, Respiratory f... ORPHA:533
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Cachexia, Kyphosis, Scoliosis, Abnormal mitral valve morphology ORPHA:1969
Glioblastoma
Glioblastoma multiforme, Paralysis ORPHA:360
Grfoma
Neoplasm of the pancreas, Hepatomegaly, Neoplasm of the thymus, Intrahepatic cholestasis, Pituita... ORPHA:97261
Short Syndrome
Inguinal hernia, Alopecia, Lipodystrophy, Abnormal dental enamel morphology, Weight loss, Sparse ... ORPHA:3163
Primary Hepatic Neuroendocrine Carcinoma
Elevated hepatic transaminase, Hepatomegaly, Intrahepatic cholestasis with episodic jaundice, Wei... ORPHA:100085
Ghosal Hematodiaphyseal Dysplasia
Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna OMIM:231095
Oromandibular Dystonia
Blepharospasm, Torticollis, Hyperkinetic movements, Weight loss ORPHA:93958
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Alopecia, Cerebral palsy, Ketonuria, Hyperglycinuria, Opisthotonus, Orga... OMIM:210210
Schimke Immunoosseous Dysplasia
Renal insufficiency, Lumbar hyperlordosis, Small for gestational age, Ovoid vertebral bodies, Pro... OMIM:242900
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Trichorhinophalangeal Syndrome, Type I
Scapular winging, Slow-growing hair, Hyperlordosis, Leukonychia, Fine hair, Scoliosis, Thin eyebr... OMIM:190350
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Pulmonary arterial hypertension, Respiratory failure, Respiratory insufficiency OMIM:613845
Perlman Syndrome
Renal hamartoma, Congenital diaphragmatic hernia, Large for gestational age, Hypoplasia of the ab... OMIM:267000
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Ataxia, Abnormal location of the eyebrow,... ORPHA:522077
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Abnormal mitochondrial shape ORPHA:485421
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Rigidity, Spastic/hyperactive bladder, Weight loss, Bradykinesia, P... ORPHA:411602
Combined Oxidative Phosphorylation Deficiency 19
Mitochondrial swelling OMIM:615595
Mucopolysaccharidosis, Type Vi
Hepatomegaly, Inguinal hernia, Lumbar hyperlordosis, Mitral stenosis, Ovoid vertebral bodies, Kyp... OMIM:253200
Autosomal Dominant Epidermolytic Ichthyosis
Conjunctival hamartoma, Weight loss ORPHA:312
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co... OMIM:616007
Otopalatodigital Syndrome, Type Ii
Depressed nasal bridge, Elbow contracture, Kyphoscoliosis, Micrognathia, Short neck, Respiratory ... OMIM:304120
Ppoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... ORPHA:97278
Bickerstaff Brainstem Encephalitis
Respiratory failure requiring assisted ventilation, Pneumonia, Hypercapnia, Respiratory tract inf... ORPHA:79138
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Ear-Patella-Short Stature Syndrome
Respiratory distress, Camptodactyly of finger, Craniosynostosis, Micrognathia, Hypoplasia of the ... ORPHA:2554
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Pericarditis, Lumbar hyperlordosis, Camptodactyly of finger, Mitral valve prolapse, Camptodactyly... ORPHA:2848
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Celiac Disease, Susceptibility To, 1
Elevated hepatic transaminase, Alopecia, Ataxia, Lymphoma, Weight loss, Enamel hypoplasia, Failur... OMIM:212750
Primary Sclerosing Cholangitis
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Cholangiocarcinoma, Renal ins... ORPHA:171
Pfapa Syndrome
Hepatomegaly, Weight loss ORPHA:42642
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... OMIM:215150
Isolated Permanent Neonatal Diabetes Mellitus
Ketonuria, Ataxia, Moderate albuminuria, Abnormal heart morphology, Weight loss, Renal tubular dy... ORPHA:99885
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Acute hepatic failure, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Elevated circulating aspart... OMIM:256810
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Hepatocellular carcinoma, L... ORPHA:79240
Microphthalmia, Lenz Type
Hydroureter, Hypospadias, Camptodactyly of finger, Hyperlordosis, Kyphosis, Scoliosis, Hydronephr... ORPHA:568
Monosomy 22
Short neck, Schwannoma, Synophrys, Hepatosplenomegaly, Contractures of the large joints, Gonadal ... ORPHA:96123
Acute Monoblastic/Monocytic Leukemia
Acute monocytic leukemia, Oliguria, Weight loss ORPHA:514
Refsum Disease
Skeletal muscle atrophy, Renal insufficiency, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal ... ORPHA:773
Tay-Sachs Disease
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower limb muscle weakness... ORPHA:845
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Lumbar hyperlordosis, Bilateral camptodactyly, Lumbar kyphosis, Spastic paraparesis, U... OMIM:619234
Osteopetrosis, Autosomal Recessive 7
Abnormal trabecular bone morphology, Death in infancy, Recurrent pneumonia, Osteopetrosis, Death ... OMIM:612301
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Hemorrhagic Fever-Renal Syndrome
Respiratory distress, Back pain, Pneumonia, Epistaxis, Dyspnea, Respiratory failure, Cough, Pleur... ORPHA:340
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Unilateral lung agenesis, Depressed nasal bridge, Lumbar hyperlordosis, Sagittal craniosynostosis... ORPHA:500150
Infantile Krabbe Disease
Lower limb spasticity, Cachexia, Spastic diplegia, Opisthotonus, Ankle clonus, Shoulder girdle mu... ORPHA:206436
Leukocyte Adhesion Deficiency, Type Iii
Epistaxis, Osteopetrosis OMIM:612840
Malignant Atrophic Papulosis
Pleural effusion, Respiratory failure ORPHA:679
Williams Syndrome
Osteopenia, Micrognathia, Abnormal form of the vertebral bodies, Vertebral segmentation defect, S... ORPHA:904
Frontorhiny
Pericallosal lipoma, Lumbar hyperlordosis, Camptodactyly of finger, Widow's peak, Scoliosis ORPHA:391474
Becker Muscular Dystrophy
Elevated hepatic transaminase, Skeletal muscle atrophy, Abnormal urinary color, Myoglobinuria ORPHA:98895
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Pituitary null cell adenoma, Pituitary corticotropic cell adeno... ORPHA:913
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Hepatosplenomegaly, Panniculitis, Weight loss ORPHA:86884
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Ataxia, Aciduria, Paralysis, ... OMIM:203700
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy OMIM:162100
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Hand muscle weakness, Tremor, Vocal cord... ORPHA:99956
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Myopathy, Type 1 m... ORPHA:98915
Kennedy Disease
Skeletal muscle atrophy ORPHA:481
Boutonneuse Fever
Respiratory failure ORPHA:83313
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
Digeorge Syndrome
Pilonidal sinus, Micrognathia, Atelectasis, Asthma, Recurrent pneumonia, Chronic pulmonary obstru... OMIM:188400
Cushing Syndrome Due To Ectopic Acth Secretion
Pancreatoblastoma, Pituitary corticotropic cell adenoma, Neoplasm of the thymus, Pancreatic endoc... ORPHA:99889
Opitz-Kaveggia Syndrome
Inguinal hernia, Multiple joint contractures, Lumbar hyperlordosis, Sacral dimple, Hypospadias, S... OMIM:305450
Neuroendocrine Tumor Of The Colon
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... ORPHA:100080
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Bladder diverticulum, Atrophic scars, Scoliosis OMIM:617821
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Hypospadias, Cachexia, Obesity, Scoliosis ORPHA:813
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Absent eyebrow, Abnormal dental enamel morphology, Kyphoscoliosis, Trich... OMIM:601701
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Ne... ORPHA:99880
Choreoacanthocytosis
Skeletal muscle atrophy, Self-mutilation of tongue and lips due to involuntary movements, Progres... OMIM:200150
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis, Weight loss OMIM:613239
Severe Generalized Junctional Epidermolysis Bullosa
Respiratory distress, Pneumonia, Dyspnea, Pneumothorax, Osteoporosis, Stridor, Respiratory failur... ORPHA:79404
7Q31 Microdeletion Syndrome
Speech apraxia, Skeletal muscle atrophy, Torticollis, Enuresis nocturna, Galactosuria, Scoliosis,... ORPHA:251061
Cartilage-Hair Hypoplasia
Lumbar hyperlordosis, Sparse facial hair, Sparse eyelashes, Fair hair, Sparse eyebrow, Hypoplasia... OMIM:250250
Schinzel-Giedion Syndrome
Short neck, Vocal cord paralysis, Renal cyst, Hypertonia, Hepatoblastoma, Myeloid leukemia, Micro... ORPHA:798
Vipoma
Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Intrahepatic cholestasis, P... ORPHA:97282
Nodular Non-Suppurative Panniculitis
Hepatomegaly, Panniculitis, Weight loss ORPHA:33577
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Somatostatinoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... ORPHA:97283
Pheochromocytoma/Paraganglioma Syndrome 1
Vagal paraganglioma, Extraadrenal pheochromocytoma, Paraganglioma of head and neck, Glomus tympan... OMIM:168000
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Hepatosplenomegaly, Platyspondyly, Squared-off platyspondyly, Scoliosi... ORPHA:93352
Lethal Acantholytic Erosive Disorder
Camptodactyly of toe, Natal tooth, Respiratory failure ORPHA:158687
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocortical carcinoma, Increased body weight, Weight loss, A... ORPHA:1501
Wild Type Attr Amyloidosis
Hepatomegaly, Renal insufficiency, Proteinuria, Weight loss, Nephrotic syndrome, Nephropathy, Hyp... ORPHA:330001
Hereditary Central Diabetes Insipidus
Weight loss ORPHA:30925
Holocarboxylase Synthetase Deficiency
Alopecia, Organic aciduria, Ataxia, Weight loss ORPHA:79242
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Inguinal hernia, Scapular winging, Block vertebrae, Short neck, Hyperlordosis, ... OMIM:272460
Martsolf Syndrome 1
Inguinal hernia, Lumbar hyperlordosis, Thoracic scoliosis, Clonus, Low anterior hairline, Spastic... OMIM:212720
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Increased mitochondrial number ORPHA:263297
3-Methylglutaconic Aciduria, Type Viii
Death in infancy, Apnea, Hypopnea, Respiratory failure, Neonatal death, Respiratory arrest OMIM:617248
Nail-Patella Syndrome
Back pain, Biceps aplasia, Lumbar hyperlordosis, Renal insufficiency, Proteinuria, Glomerulonephr... OMIM:161200
19Q13.11 Microdeletion Syndrome
Hypospadias, Ventricular septal defect, Cachexia, Supernumerary nipple, Fine hair, Sparse or abse... ORPHA:217346
Whipple Disease
Hepatomegaly, Pericarditis, Myositis, Ataxia, Cachexia, Myocarditis, Abnormal pyramidal sign, Myo... ORPHA:3452
Perry Syndrome
Parkinsonism, Tremor, Rigidity, Weight loss, Bradykinesia OMIM:168605
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Opisthotonus, Gait ataxia, Myoclonus, Hemiplegia, Spasticity OMIM:103050
Rheumatoid Arthritis
Digital flexor tenosynovitis, Weight loss OMIM:180300
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Abnormal tr... ORPHA:192
Osteopetrosis, Autosomal Recessive 6
Osteopetrosis OMIM:611497
Combined Oxidative Phosphorylation Deficiency 3
Death in infancy, Dyspnea, Respiratory insufficiency, Respiratory failure, Death in childhood OMIM:610505
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
L1 Syndrome
Skeletal muscle atrophy, Spasticity, Hemiplegia/hemiparesis ORPHA:275543
Metaphyseal Chondrodysplasia, Schmid Type
Lumbar hyperlordosis, Obesity, Irregular vertebral endplates, Platyspondyly, Abnormal vertebral m... ORPHA:174
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Respiratory failure, Limb joint contracture OMIM:620327
Mitochondrial Trifunctional Protein Deficiency 1
Respiratory failure, Respiratory insufficiency OMIM:609015
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome
Abnormal mitochondrial shape ORPHA:543470
Multiple Endocrine Neoplasia Type 4
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cell adenoma, Carcinoid ... ORPHA:276152
Pyomyositis
Renal insufficiency, Myositis, Testicular teratoma, Weight loss ORPHA:764
Yao Syndrome
Ventricular hypertrophy, Pericarditis, Nephrolithiasis, Weight loss OMIM:617321
Classic Pantothenate Kinase-Associated Neurodegeneration
Spasticity, Frequent falls, Opisthotonus, Weight loss ORPHA:216866
Tetrasomy 12P
Sparse hair, Sparse eyebrow, Cachexia, Short neck ORPHA:884
Yellow Nail Syndrome
Renal neoplasm, Biliary tract neoplasm, Yellow nails, Neoplasm of the lung, Neoplasm, Nephropathy... ORPHA:662
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Fasciculations ORPHA:2942
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Synophrys, Flexion contracture, Knee flexion contracture, Diaphragmatic eventration, Micropenis, ... OMIM:619503
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Gonadoblastoma ORPHA:168563
Smith-Mccort Dysplasia 2
Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Decreased body weight OMIM:615222
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Primary Myelofibrosis
Hepatomegaly, Portal hypertension, Cachexia, Hematological neoplasm, Hepatosplenomegaly, Hemangioma ORPHA:824
Neuroendocrine Tumor Of The Rectum
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... ORPHA:100082
Autosomal Recessive Polycystic Kidney Disease
Hypoventilation, Spontaneous pneumothorax, Micrognathia, Recurrent pneumonia, Depressed nasal rid... ORPHA:731
Inflammatory Pseudotumor Of The Liver
Elevated circulating aspartate aminotransferase concentration, Abnormal liver sonography, Elevate... ORPHA:90003
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Periodic paralysis ORPHA:757
Immunodeficiency 27A
Hepatosplenomegaly, Weight loss OMIM:209950
Paget Disease Of Bone 3
Fractures of the long bones, Osteolysis, Patchy osteosclerosis OMIM:167250
Trisomy 18
Omphalocele, Ventricular septal defect, Camptodactyly of finger, Cachexia, Congenital diaphragmat... ORPHA:3380
Pemphigus Vulgaris
Atypical scarring of skin, Weight loss ORPHA:704
Polycythemia Vera
Hepatomegaly, Myelodysplasia, Portal hypertension, Portal vein thrombosis, Acute leukemia, Weight... ORPHA:729
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Joint contracture, Lumbar hyperlordosis OMIM:602471
Pheochromocytoma/Paraganglioma Syndrome 3
Extraadrenal pheochromocytoma, Vocal cord paralysis, Chemodectoma, Adrenal pheochromocytoma, Glom... OMIM:605373
Fumarase Deficiency
Mitochondrial swelling, Decreased fumarate hydratase activity OMIM:606812
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Cockayne Syndrome
Skeletal muscle atrophy, Dry hair, Urinary incontinence, Congenital contracture, Progressive gait... ORPHA:191
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Hermansky-Pudlak Syndrome
Renal insufficiency, Hypopigmentation of hair, Abnormal dental enamel morphology, Weight loss, Ca... ORPHA:79430
Microphthalmia With Linear Skin Defects Syndrome
Respiratory distress, Wide nose, Sacral dimple, Abnormal dental enamel morphology, Micrognathia, ... ORPHA:2556
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Cachexia, Ragged-red muscle fibers, Weight loss, Distal amyotrophy, Slender build OMIM:603041
Leishmaniasis
Elevated hepatic transaminase, Hepatomegaly, Weight loss ORPHA:507
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Allergic Bronchopulmonary Aspergillosis
Weight loss ORPHA:1164
Polyarteritis Nodosa
Cardiomyopathy, Pericarditis, Weight loss ORPHA:767
S-Adenosylhomocysteine Hydrolase Deficiency
Respiratory failure ORPHA:88618
Mitochondrial Complex I Deficiency, Nuclear Type 1
3-hydroxydicarboxylic aciduria, Skeletal muscle atrophy, Hepatomegaly, Ataxia, Hypospadias, Ragge... OMIM:252010
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Ataxia, Kyphosis, Chronic myelogenous leukemia, Multiple lip... ORPHA:636
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Glandular hypospad... ORPHA:1358
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Camptodactyly of finger, Prominent protruding coccyx, Abnormal form of the ... ORPHA:2839
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Abnormal eyebrow morphology, Small hypothenar eminence, Lumbar hyperlordosis, Sparse facial hair,... ORPHA:2232
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Mitochondrial Trifunctional Protein Deficiency
Respiratory failure, Respiratory insufficiency ORPHA:746
Familial Glucocorticoid Deficiency
Renal salt wasting, Testicular adrenal rest tumor, Tetraplegia, Weight loss, Hypernatriuria, Leyd... ORPHA:361
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Hepatomegaly, Renal insufficiency, Hyperlordosis, Hypoplasia of the odontoid process, Irregular v... OMIM:226980
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Ataxia, Cachexia, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Spasticity ORPHA:220295
Lymphoid Interstitial Pneumonia
Hepatomegaly, Weight loss, Abnormality of connective tissue, Failure to thrive, Enlarged kidney ORPHA:79128
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hepatomegaly, Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression f... OMIM:602557
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Nail dystrophy, Sparse hair, Failure to thrive OMIM:615934
Bronchial Neuroendocrine Tumor
Hepatomegaly, Abnormal pulmonary valve cusp morphology, Pulmonary carcinoid tumor, Weight loss, H... ORPHA:97287
Carney-Stratakis Syndrome
Gastrointestinal stroma tumor, Paraganglioma, Weight loss ORPHA:97286
Familial Thrombocytosis
Acute myeloid leukemia, Chronic myelogenous leukemia, Myelodysplasia, Weight loss ORPHA:71493
3-Hydroxy-3-Methylglutaric Aciduria
Elevated hepatic transaminase, Hepatomegaly, Ketonuria, Ataxia, Spastic hemiparesis, Jaundice, Di... ORPHA:20
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Ventricular hypertrophy, Lumbar hyperlordosis, Mitral stenosis, Camptodactyly of finger, Kyphosco... OMIM:143095
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:85329
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Muscle fiber atrophy, Hepatomegaly, Self-mutilation ... ORPHA:2388
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Thoracolumbar scoliosis, Ovoid vertebral bodies, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Laryngotracheoesophageal Cleft Type 4
Abnormal cardiac septum morphology, Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Refractory Celiac Disease
Elevated hepatic transaminase, Lymphoma, Weight loss ORPHA:398063
Giant Cell Arteritis
Pericarditis, Renal insufficiency, Ataxia, Alopecia, Weight loss, Hematuria, Hepatic failure, Dou... ORPHA:397
Pelizaeus-Merzbacher Disease, Connatal Form
Respiratory failure ORPHA:280210
Caroli Disease
Hepatomegaly, Cholangiocarcinoma, Liver abscess, Cholangitis, Portal hypertension, Intrahepatic c... ORPHA:53035
Proteus Syndrome
Decreased muscle mass, Neoplasm of the thymus, Abnormal form of the vertebral bodies, Renal cyst,... ORPHA:744
Fanconi Anemia
Abnormality of chromosome stability, Hydroureter, Hypospadias, Renal insufficiency, Myelodysplasi... ORPHA:84
Combined Oxidative Phosphorylation Deficiency 37
Respiratory failure, Respiratory insufficiency OMIM:618329
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Abnormal sacroiliac joint morphology, Abnormal vertebral morphology, Scoliosis, Weight loss ORPHA:324964
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Ataxia, Parkinsonism, Urinary incontinence, Tremor, Rigidity, Babinski s... OMIM:146500
Porphyria, Acute Intermittent
Urinary incontinence, Dysuria, Paralysis, Urinary retention, Respiratory paralysis, Hepatocellula... OMIM:176000
Osteopetrosis, Autosomal Recessive 8
Osteopetrosis OMIM:615085
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Fatal Familial Insomnia
Urinary retention, Ataxia, Myoclonus, Weight loss OMIM:600072
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic paralysis, Scoliosis, Enamel hypoplasia, Periodic hypokalemic paresis OMIM:170390
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lower limb spasticity, Lumbar hyperlordosis, Ventricular septal defect, Short neck, Fine hair, Hy... ORPHA:251028
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Fraser Syndrome 2
Wide nose, Respiratory failure, Short neck, Underdeveloped nasal alae OMIM:617666
Ring Chromosome 10 Syndrome
Cachexia, Short neck ORPHA:1438
Cystinosis, Nephropathic
Hepatomegaly, Skeletal muscle atrophy, Renal insufficiency, Failure to thrive in infancy, Hyperph... OMIM:219800
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Glucagonoma
Neoplasm of the pancreas, Hepatomegaly, Intrahepatic cholestasis, Pituitary adenoma, Extrahepatic... ORPHA:97280
Gallbladder Neuroendocrine Tumor
Biliary tract neoplasm, Extrahepatic cholestasis, Weight loss, Intermittent jaundice, Neoplasm of... ORPHA:100086
Graves Disease, Susceptibility To, 1
Weight loss OMIM:275000
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Dilated cardiomyopathy, Renal hypoplasia, Re... ORPHA:37553
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Inguinal hernia, Kyphoscoliosis, Atlantoaxial instability, Myopathy, Atr... OMIM:614557
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Thick eyebrow, Ventricular septal defect, Diastasis ... ORPHA:488632
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Ataxia, Unilateral renal agenesis, Hyperlordosis, Hypertrichosis, Low posterior hairline, Umbilic... ORPHA:221139
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Mitral valve calcification, Cachexia, Paralysis, Aortic valve calcification, Oculomotor apraxia, ... ORPHA:2072
Foodborne Botulism
Cerebral palsy, Urinary retention, Diaphragmatic paralysis, Paralysis ORPHA:228371
Insulin-Resistance Syndrome Type B
Alopecia, Proteinuria, Abnormality of body weight, Lymphoma, Increased body weight, Hodgkin lymph... ORPHA:2298
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Urinary incontinence, Babinski sign, Vocal cor... ORPHA:268882
Cockayne Syndrome Type 3
Elevated hepatic transaminase, Skeletal muscle atrophy, Hepatomegaly, Renal insufficiency, Neurog... ORPHA:90324
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Inguinal hernia, Congenital kyphoscoliosis, Bicuspid aortic valve, Dextr... ORPHA:536545
Drug Reaction With Eosinophilia And Systemic Symptoms
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Myocarditis, Hepatitis... ORPHA:139402
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Igg4-Related Aortitis
Low back pain, Hydronephrosis, Weight loss ORPHA:449400
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, Sparse eyebrow... ORPHA:457359
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Synophrys, Platyspondyly, Umbil... OMIM:619636
Neu-Laxova Syndrome
Skeletal muscle atrophy, Abnormal eyelash morphology, Abnormal hair morphology, Flexion contractu... ORPHA:2671
Pulmonary Non-Tuberculous Mycobacterial Infection
Pericardial effusion, Weight loss ORPHA:411703
Localized Scleroderma
Skeletal muscle atrophy, Fasciitis, Flexion contracture, Myopathy, Patchy alopecia, Progressive l... ORPHA:90289
Neuroendocrine Tumor Of Stomach
Elevated hepatic transaminase, Hepatomegaly, Abnormal pulmonary valve cusp morphology, Weight los... ORPHA:100075
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Hamartomatous polyposis, Alopecia, Nail dystrophy, Cachexia OMIM:175500
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Flexion contracture, Weight loss, Hepatosplenomegaly, Enthesitis, Abnormality of the cervical spine ORPHA:85408
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Hepatomegaly, Spastic tetraparesis, Pericardial effusion, Hepatitis, Tetra... OMIM:615846
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Melanoma, Cellulitis, Retinobl... ORPHA:790
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexion contractur... OMIM:255995
Primary Intestinal Lymphangiectasia
Disseminated cutaneous warts, Pericardial effusion, Weight loss ORPHA:90362
Osteootohepatoenteric Syndrome
Proteinuria, Microvesicular hepatic steatosis, Grade II vesicoureteral reflux, Cholestasis, Weigh... OMIM:619377
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Hallermann-Streiff Syndrome
Sparse scalp hair, Small for gestational age, Sparse eyelashes, Hyperlordosis, Sparse eyebrow, Fi... OMIM:234100
Beta-Ketothiolase Deficiency
Hepatomegaly, Ketonuria, Ataxia, Weight loss, Extrapyramidal dyskinesia, Spasticity ORPHA:134
Q Fever
Elevated hepatic transaminase, Hepatomegaly, Pericarditis, Abnormal heart valve morphology, Peric... ORPHA:781
Proteasome-Associated Autoinflammatory Syndrome 1
Elevated hepatic transaminase, Skeletal muscle atrophy, Failure to thrive, Hepatomegaly, Lipodyst... OMIM:256040
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
Hereditary Folate Malabsorption
Skeletal muscle atrophy, Failure to thrive ORPHA:90045
Budd-Chiari Syndrome
Elevated hepatic transaminase, Hepatomegaly, Acute hepatic failure, Portal hypertension, Jaundice... ORPHA:131
Osteopetrosis, Autosomal Recessive 3
Osteopetrosis, Cranial hyperostosis, Dental malocclusion, Diaphyseal sclerosis OMIM:259730
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Stage 3 chronic kidney disease, Type 2 muscle fiber predominance, Myopat... OMIM:619743
Tyrosinemia, Type I
Acute hepatic failure, Hepatomegaly, Elevated hepatic transaminase, Renal insufficiency, Periodic... OMIM:276700
Abetalipoproteinemia
Osteopenia, Respiratory failure, Kyphoscoliosis ORPHA:14
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Hyperlordosis, Obesity, Abnormal heart morphology, Mitral valve prolapse, Truncal o... OMIM:615873
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Obesity, Hypertonia, Hirsutism OMIM:616078
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Chorea, Athetosis, Hypertonia ORPHA:52503
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Ventricular septal defect, Elbow flexion contracture, Spinal canal stenosis... OMIM:608328
Niemann-Pick Disease Type C
Abnormal lung morphology, Respiratory insufficiency, Pulmonary infiltrates, Respiratory failure, ... ORPHA:646
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Hepatomegaly, Long penis, Hypercalc... ORPHA:508
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Spastic diplegia, Irregular... OMIM:607944
Juvenile Polyposis Of Infancy
Cachexia, Abnormal heart morphology, Hamartomatous polyposis, Hemangioblastoma, Atrial septal def... ORPHA:79076
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Abnormal nasopharynx morphology, Increased density of long bones, Anteve... OMIM:269150
Hypopigmentation, Organomegaly, And Delayed Myelination And Development
Osteopetrosis OMIM:618541
Satoyoshi Syndrome
Abnormal hair morphology, Sparse or absent eyelashes, Alopecia universalis, Hyperlordosis ORPHA:3130
Distal Renal Tubular Acidosis
Hyperphosphaturia, Hypocitraturia, Paralysis, Nephrolithiasis, Renal cyst, Hypercalciuria, Nephro... ORPHA:18
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hepatomegaly, Hyperlordosis, Synophrys, Obesity, Hepatosplenomegaly, Cholecystitis, Umbilical her... OMIM:301066
Juvenile Dermatomyositis
Calcinosis, Pericarditis, Myositis, Alopecia, Weight loss, Cardiomyopathy ORPHA:93672
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Chronic Beryllium Disease
Weight loss ORPHA:133
Generalized Pseudohypoaldosteronism Type 1
Cholelithiasis, Failure to thrive in infancy, Weight loss ORPHA:171876
Osteosarcoma
Weight loss ORPHA:668
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Respiratory failure OMIM:616538
Stickler Syndrome
Skeletal muscle atrophy, Abnormal dental enamel morphology, Cachexia, Kyphosis, Hemiplegia/hemipa... ORPHA:828
Rat-Bite Fever
Back pain, Pericarditis, Myocarditis, Endocarditis, Weight loss, Tendonitis ORPHA:31205
Marfan Syndrome
Skeletal muscle atrophy, Inguinal hernia, Mitral valve calcification, Cachexia, Kyphosis, Mitral ... ORPHA:558
Secondary Short Bowel Syndrome
Failure to thrive, Cholestasis, Weight loss ORPHA:95427
Duane Retraction Syndrome
Skeletal muscle atrophy, Patchy hypopigmentation of hair, Short neck, Ectopic kidney, Spina bifid... ORPHA:233
Glucose-Galactose Malabsorption
Renal insufficiency, Nephrolithiasis, Weight loss, Hematuria, Failure to thrive ORPHA:35710
Diffuse Alveolar Hemorrhage
Hematuria, Proteinuria, Weight loss ORPHA:90060
Saethre-Chotzen Syndrome
Abnormal hair pattern, Hyperlordosis, Low anterior hairline, Abnormal form of the vertebral bodie... ORPHA:794
Rift Valley Fever
Back pain, Elevated hepatic transaminase, Paralysis, Paraparesis, Jaundice, Hepatitis, Hemiparesi... ORPHA:319251
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Hypoplasia of pen... ORPHA:899
Ichthyosis, Congenital, Autosomal Recessive 2
Abnormal hair morphology, Alopecia, Paralysis OMIM:242100
Desbuquois Dysplasia 2
Lumbar hyperlordosis, Short neck, Synophrys, Truncal obesity, Platyspondyly OMIM:615777
Idiopathic Hypereosinophilic Syndrome
Elevated hepatic transaminase, Skeletal muscle atrophy, Cholangitis, Myelodysplasia, Dilated card... ORPHA:3260
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Immunodeficiency 31C
Hepatomegaly, Skeletal muscle atrophy, Weight loss OMIM:614162
Tropical Pancreatitis
Pancreatic adenocarcinoma, Jaundice, Weight loss ORPHA:103918
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Brain neoplasm, Non-medullary thyroid carcinoma, Foot dorsiflexor weakne... ORPHA:273
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Renal insufficiency, Dysuria, Renovascular hypertension, Weight loss, Unilateral r... ORPHA:49041
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hepatomegaly, Oroticaciduria, Stage 5 chronic kidney disease, Fine hair,... OMIM:222700
Wolman Disease
Hepatomegaly, Hepatic failure, Cachexia ORPHA:75233
Renal Tubular Acidosis Iii
Nephrocalcinosis, Bicarbonate-wasting renal tubular acidosis, Nephrolithiasis, Periodic paralysis OMIM:267200
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Microsporidiosis
Myositis, Cholangitis, Cachexia, Myocarditis, Urethritis, Biliary tract abnormality, Hepatitis, E... ORPHA:2552
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Hyperlordosis, Large for gestational age, Kyphosis, Sparse eyebrow, Gait ataxia, Scoliosis OMIM:617011
Degcags Syndrome
Synophrys, Bilateral renal hypoplasia, Vocal cord paralysis, Low anterior hairline, Premature gra... OMIM:619488
Osteopetrosis With Renal Tubular Acidosis
Recurrent fractures, Persistence of primary teeth, Micrognathia, Pulmonary arterial hypertension,... ORPHA:2785
Iniencephaly
Omphalocele, Congenital diaphragmatic hernia, Hyperlordosis, Absent vertebra, Arthrogryposis mult... ORPHA:63259
Congenital Tufting Enteropathy
Cholestatic liver disease, Failure to thrive, Weight loss ORPHA:92050
Amoebiasis Due To Entamoeba Histolytica
Elevated hepatic transaminase, Liver abscess, Abnormal pericardium morphology, Weight loss, Const... ORPHA:67
Ileal Neuroendocrine Tumor
Elevated hepatic transaminase, Tricuspid stenosis, Extrahepatic cholestasis, Weight loss, Small i... ORPHA:100078
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Small for gestational age, Hypospadias, Flexion contracture, Poor coordi... OMIM:309590
Cryptogenic Organizing Pneumonia
Weight loss ORPHA:1302
Inhalational Botulism
Urinary retention, Paralysis ORPHA:254504
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Elevated hepatic transaminase, Myositis, Alopecia, Failure to thrive in infancy, Cachexia, Hepati... ORPHA:37042
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Failure to thrive, Small for gestational age, Patent urachus OMIM:618252
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Short nail, Thoracolumbar interpediculate narrownes... OMIM:602875
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia, Sparse scalp hair, ... OMIM:618371
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Lysosomal Acid Lipase Deficiency
Elevated hepatic transaminase, Fatal liver failure in infancy, Cachexia, Renal salt wasting, Micr... ORPHA:275761
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Long nose, Cleft of chin, Radioulnar synostosis, Lambdoidal craniosyno... OMIM:101400
Late-Onset Isolated Acth Deficiency
Pituitary adenoma, Failure to thrive, Hepatitis, Weight loss ORPHA:199299
Recon Progeroid Syndrome
Skeletal muscle atrophy, Hirsutism, Absent lower eyelashes OMIM:620370
Behçet Disease
Pericarditis, Myositis, Ataxia, Renal insufficiency, Abnormal pyramidal sign, Endocarditis, Weigh... ORPHA:117
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Elevated hepatic transaminase, Liver abscess, Weight loss ORPHA:54251
Igg4-Related Kidney Disease
Lymphocytoma cutis, Sterile pyuria, Tubulointerstitial nephritis, Cholecystitis, Abnormal ureter ... ORPHA:449395
Primary Hyperoxaluria
Generalized osteosclerosis, Recurrent fractures, Abnormal dental pulp morphology ORPHA:416
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis ORPHA:83601
Klatskin Tumor
Hepatomegaly, Cholangiocarcinoma, Jaundice, Extrahepatic cholestasis, Weight loss ORPHA:99978
Shprintzen Omphalocele Syndrome
Omphalocele, Lumbar hyperlordosis, Kyphosis, Scoliosis, Decreased body weight OMIM:182210
Eosinophilic Gastroenteritis
Weight loss ORPHA:2070
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Ventricular septal defect, Spinal canal stenosis, Pulmonic stenosis, Scolio... OMIM:277600
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Anemia, Congenital Dyserythropoietic, Type Iv
Hepatomegaly, Hypospadias, Hepatosplenomegaly, Micropenis, Weight loss, Hypertrophic cardiomyopathy OMIM:613673
Hyperoxaluria, Primary, Type I
Pathologic fracture, Increased bone mineral density OMIM:259900
Williams-Beuren Syndrome
Bicuspid aortic valve, Flexion contracture, Vocal cord paralysis, Nephrocalcinosis, Premature gra... OMIM:194050
Stevens-Johnson Syndrome
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:36426
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Ventricular septal defect, Hypospadias, Spastic tetraparesis, Widow's peak,... OMIM:616975
Moebius Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Breast aplasia, Ar... ORPHA:570
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Brucellosis
Hepatomegaly, Pericarditis, Liver abscess, Small for gestational age, Glomerulonephritis, Myocard... ORPHA:1304
Toxic Epidermal Necrolysis
Acute hepatic failure, Elevated hepatic transaminase, Renal insufficiency, Dysuria, Abnormality o... ORPHA:537
Fryns-Smeets-Thiry Syndrome
Scoliosis, Cachexia ORPHA:2058
Acute Promyelocytic Leukemia
Hematuria, Weight loss ORPHA:520
Addison Disease
Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Thymoma, Weight loss, Fail... ORPHA:85138
Ménétrier Disease
Weight loss ORPHA:2494
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Alopecia, Failure to thrive, Weight loss ORPHA:37
Acquired Central Diabetes Insipidus
Pollakisuria, Weight loss ORPHA:95626
African Trypanosomiasis
Hepatomegaly, Pericarditis, Abnormal central motor function, Renal insufficiency, Involuntary mov... ORPHA:3385
Seckel Syndrome
Sparse scalp hair, Scoliosis, Abnormal dental enamel morphology, Cachexia ORPHA:808
Castleman Disease
Renal insufficiency, Jaundice, Weight loss, Hematuria, Restrictive cardiomyopathy, Ureteral obstr... ORPHA:160
Branchiooculofacial Syndrome
Hypospadias, Facial palsy, Supernumerary nipple, Hyperlordosis, Short neck, Kyphosis, Elbow flexi... OMIM:113620
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Kenny-Caffey Syndrome, Type 2
Increased bone mineral density, Thickened cortex of long bones OMIM:127000
Imerslund-Gräsbeck Syndrome
Failure to thrive, Proteinuria, Weight loss ORPHA:35858
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Hypophosphaturia, Hyperlordosis, Abnormality of hair texture, Synophrys, Hypopl... ORPHA:73223
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Pineoblastoma
Retinoblastoma, Pinealoma, Paralysis ORPHA:251909
Hutchinson-Gilford Progeria Syndrome
Ventricular hypertrophy, Absent eyebrow, Mitral valve calcification, Mitral stenosis, Abnormal mi... ORPHA:740
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Small for gestational age, Hand tremor, Weight loss ORPHA:424
Holoprosencephaly 2
Aplasia of the nasal bone, Aplasia of the premaxilla, Proboscis, Absent nasal septal cartilage, S... OMIM:157170
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Obesity, Scoliosis OMIM:250420
Reactive Arthritis
Pericarditis, Weight loss, Dystrophic fingernails, Enthesitis ORPHA:29207
Acute Adrenal Insufficiency
Renal insufficiency, Sparse axillary hair, Decreased urinary potassium, Renal salt wasting, Weigh... ORPHA:95409
Malt Lymphoma
B-cell lymphoma, Weight loss ORPHA:52417
Chronic Graft Versus Host Disease
Elevated hepatic transaminase, Fasciitis, Alopecia, Phimosis, Urinary bladder inflammation, Flexi... ORPHA:99921
Sarcoidosis
Hepatomegaly, Renal insufficiency, Alopecia, Facial palsy, Scarring, Portal hypertension, Nephrol... ORPHA:797
Multiple Myeloma
Weight loss, Nephrotic syndrome, Nephropathy, Vertebral compression fracture, Acute kidney injury ORPHA:29073
Granulomatosis With Polyangiitis
Renal insufficiency, Pericarditis, Ureteral stenosis, Proteinuria, Weight loss, Hematuria, Hemipl... ORPHA:900
Tsh-Secreting Pituitary Adenoma
Abnormal hair quantity, Pericardial effusion, Tremor, Weight loss, Periodic hypokalemic paresis ORPHA:91347
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Abnormality of the liver, Esophageal neoplasm, Sarcoma ORPHA:44890
Renal Nutcracker Syndrome
Proteinuria, Weight loss, Hematuria, Renal artery stenosis, Microscopic hematuria ORPHA:71273
Primary Fanconi Renotubular Syndrome
Increased urinary potassium, Chronic kidney disease, Bicarbonaturia, Bicarbonate-wasting renal tu... ORPHA:3337
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Sparse scalp hair, Ataxia, Absent facial hair, Kyphosis... OMIM:259050
Postinfectious Vasculitis
Viral hepatitis, Membranoproliferative glomerulonephritis, Proteinuria, Glomerulonephritis, Weigh... ORPHA:48435
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Micropenis, Hypertonia, Myoclonus, Fasciculations... ORPHA:284339
Autoimmune Pulmonary Alveolar Proteinosis
Weight loss ORPHA:747
Acrocapitofemoral Dysplasia
Short nail, Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Igg4-Related Dacryoadenitis And Sialadenitis
Tubulointerstitial nephritis, Myositis, Abnormality of the extraocular muscles, Weight loss ORPHA:79078
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Frontal balding, Renal salt wasting, Long penis, Hirsutism, Testicular adrenal rest tumor, Weight... ORPHA:90794
Kikuchi-Fujimoto Disease
Elevated hepatic transaminase, Hepatomegaly, Alopecia, Ataxia, Myocarditis, Weight loss ORPHA:50918
Sponastrime Dysplasia
Lumbar hyperlordosis, Small for gestational age, Hypospadias, Kyphoscoliosis, Hyperconvex vertebr... ORPHA:93357
Granulomatosis With Polyangiitis
Weight loss OMIM:608710
Hyper-Igd Syndrome
Renal angiomyolipoma, Elevated urine mevalonic acid level, Hepatosplenomegaly OMIM:260920
Leprosy
Skeletal muscle atrophy, Alopecia, Absent eyebrow, Loss of eyelashes, Abnormality of the liver, S... ORPHA:548
Tubulointerstitial Nephritis And Uveitis Syndrome
Sterile pyuria, Weight loss, Renal tubular epithelial necrosis, Tubulointerstitial nephritis, Ami... ORPHA:91500
Tropical Endomyocardial Fibrosis
Hepatomegaly, Right ventricular cardiomyopathy, Left atrial enlargement, Cachexia, Cardiomegaly, ... ORPHA:75565
Norrie Disease
Clonus, Cachexia, Hypertonia, Scoliosis, Neoplasm of the eye, Failure to thrive, Vascular neoplasm ORPHA:649
Pancreatoblastoma
Jaundice, Weight loss ORPHA:677
Sarcoidosis, Susceptibility To, 1
Pericardial effusion, Hepatomegaly, Hypercalciuria, Weight loss OMIM:181000
Immunodeficiency 82 With Systemic Inflammation
Hepatitis, B-cell lymphoma, Cholesteatoma, Weight loss OMIM:619381
Pierson Syndrome
Diffuse mesangial sclerosis, Skeletal muscle atrophy, Proteinuria, Stage 5 chronic kidney disease... OMIM:609049
Pancreatic Triacylglycerol Lipase Deficiency
Weight loss ORPHA:309031
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Bicuspid aortic valve, Hypospadias, Kyphoscoliosis, Hydroureter, Spastic di... OMIM:309800
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Weight loss OMIM:301074
Goodpasture Syndrome
Renal insufficiency, Proteinuria, Glomerulonephritis, Cylindruria, Weight loss, Macroscopic hemat... OMIM:233450
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Hat1

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Hat1.

No publications found that use IMPC mice or data for Hat1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Hat1tm1(NCOM)Cmhd Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Hat1tm1a(EUCOMM)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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