banner
Genes Phenotypes Help, News, Blog

Gene: Stac3 MGI:3606571

Log in to follow
Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
SH3 and cysteine rich domain 3
Synonyms:
N/A

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 Stac3 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.

The table below shows human diseases associated to Stac3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Abnormality of skeletal muscle fiber size, ... ORPHA:168572
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Flexi... OMIM:255995

The table below shows human diseases predicted to be associated to Stac3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:619733
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3
Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne... OMIM:615424
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic... OMIM:608423
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617760
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myasthenic Syndrome, Congenital, 14
Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-girdle muscle w... OMIM:616228
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl... OMIM:618129
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Fiber type grouping OMIM:614369
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Weakness of facial musculature, Peroneal muscle atrophy, Shoulder girdle muscle atrophy, Talipes ... OMIM:181400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15
Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers OMIM:618992
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated... OMIM:616852
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission,... ORPHA:353327
Congenital Myopathy 18
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e... OMIM:620246
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Ulnar deviation of the hand, Elbow contracture, Toe jo... OMIM:620310
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Dyst... ORPHA:309169
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... OMIM:611225
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Short metacarpal, Ataxia, Elevated circulating creatine kinase concentra... OMIM:248800
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase... OMIM:617066
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Abnormal lower motor neuron morphology, Hand muscle weakness, Vocal cord par... OMIM:607641
Myopathy, Myofibrillar, 8
Scapular winging, Frequent falls, Elevated circulating creatine kinase concentration, Centrally n... OMIM:617258
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy... ORPHA:86812
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C... OMIM:617072
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Kyphos... OMIM:255200
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Recurrent respiratory infections, Multiple joint contractures, Centrally nucleated skeletal muscl... ORPHA:486815
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability... OMIM:613204
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:158590
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi... OMIM:300717
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Recurrent respiratory infections, Facial palsy, Centrally nucleated skel... OMIM:255320
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Elevated circulating c... OMIM:255160
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child... OMIM:620265
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Par... OMIM:605285
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Congenital Muscular Dystrophy, Ullrich Type
Elevated circulating creatine kinase concentration, Short neck, Flexion contracture, Knee flexion... ORPHA:75840
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu... OMIM:619042
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Flexion contracture, I... OMIM:602771
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Ragged-red muscle fibers, Intrinsic hand muscle ... ORPHA:276435
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Infantile-Onset X-Linked Spinal Muscular Atrophy
Hip contracture, Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Congenital Myopathy 4A, Autosomal Dominant
Congenital hip dislocation, Limb joint contracture, Facial palsy, Lumbar hyperlordosis, Centrally... OMIM:255310
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Hammertoe, Distal a... OMIM:616287
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
X-Linked Centronuclear Myopathy
Recurrent respiratory infections, Pneumonia, Weakness of facial musculature, Centrally nucleated ... ORPHA:596
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
King-Denborough Syndrome
Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Kyphoscoliosis, Central... OMIM:619542
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Congenital Myopathy 10A, Severe Variant
Camptodactyly of finger, Facial palsy, Abnormal motor nerve conduction velocity, Pectus excavatum... OMIM:614399
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hype... ORPHA:169186
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Dental crowding, Ragged-red muscle fibers, High palate, Generalized amyotroph... OMIM:620351
Dystonia 31
Generalized dystonia, Writer's cramp, Leg dystonia, Arm dystonia, Abnormal posturing, Craniofacia... OMIM:619565
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions OMIM:614750
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy... OMIM:167320
Bethlem Myopathy 2
Scapular winging, Elevated circulating creatine kinase concentration, Kyphosis, Flexion contractu... OMIM:616471
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Elevated circulating creatine kinase concentration, Short neck, Spinal rigidity, Kyphosis, Hyperl... OMIM:300718
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi... OMIM:620386
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Radioulnar Synostosis-Microcephaly-Scoliosis Syndrome
Finger syndactyly, Abnormality of the philtrum, Abnormality of the dentition, Abnormal rib morpho... ORPHA:3268
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Elevated circu... OMIM:615290
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Prolonged miniature endplate currents... OMIM:603034
Moderate Multiminicore Disease With Hand Involvement
Talipes equinovarus, Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Talipes equinovarus, Paralysis OMIM:613710
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Elevated circulating creatine kina... ORPHA:254361
Myopathy, Distal, 1
Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Lumbar hyperlordosis, Facial palsy, El... OMIM:160500
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Congenital Muscular Dystrophy With Intellectual Disability
Neuropathic spinal arthropathy, Hypoglycosylation of alpha-dystroglycan, Multiple joint contractu... ORPHA:370968
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis OMIM:616286
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Hammertoe, Talipes equino... OMIM:608340
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, High palate, Scoliosis, Weakness of facial musculature... OMIM:608930
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Elevated circulating creatine kinase concen... OMIM:300696
Zebra Body Myopathy
Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr... ORPHA:97240
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... ORPHA:99947
Metatropic Dysplasia
Abnormal metaphyseal vascular invasion, Flexion contracture, Long coccyx, Halberd-shaped pelvis, ... OMIM:156530
Oculopharyngodistal Myopathy 4
Postural tremor, Autophagic vacuoles, Tremor, Fatty replacement of skeletal muscle, Increased var... OMIM:619790
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,... ORPHA:169189
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Reduced muscle fiber alpha dystroglycan, Ankle flexion contracture... ORPHA:280333
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Talipes equinovarus, Scoliosis... OMIM:617087
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Tremor, Increased variability in muscle fiber diamet... OMIM:619473
Congenital Myopathy 14
Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Increased vari... OMIM:618414
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Parastremmatic Dwarfism
Bowing of the long bones, Short neck, Kyphosis, Flexion contracture, Genu valgum, Scoliosis OMIM:168400
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Fetal Akinesia Deformation Sequence 4
11 pairs of ribs, Skeletal muscle atrophy, Rocker bottom foot, Short neck, Kyphosis, High palate,... OMIM:618393
Hypokalemic Periodic Paralysis
Episodic hypokalemia, Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increas... ORPHA:681
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s... OMIM:607706
Myotubular Myopathy With Abnormal Genital Development
Death in infancy, Centrally nucleated skeletal muscle fibers, Atelectasis, Thin ribs, Myopathy, H... OMIM:300219
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Limited interphalangeal movement, Frequent falls, Hand muscle wea... ORPHA:99948
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Lethal Congenital Contracture Syndrome 5
Death in infancy, Elevated circulating creatine kinase concentration, Centrally nucleated skeleta... OMIM:615368
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Athetosis, Ragged-red muscle fibers, Dystonia OMIM:615159
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne... ORPHA:598
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ... OMIM:619518
Myopathy, Distal, 3
Split hand, Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contractur... OMIM:610099
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Split hand, Intrinsic hand muscle atrophy, Amyotrophy of an... ORPHA:399086
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Combined Oxidative Phosphorylation Deficiency 6
Increased serum pyruvate, Skeletal muscle atrophy, Involuntary movements, Ragged-red muscle fiber... OMIM:300816
Typical Nemaline Myopathy
Elevated circulating creatine kinase concentration, Short neck, Fatigable weakness of distal limb... ORPHA:171436
Isolated Klippel-Feil Syndrome
Congenital muscular torticollis, Spina bifida, Short neck, Hemiplegia/hemiparesis, Abnormal sacru... ORPHA:2345
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A... OMIM:619566
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Mohr-Tranebjaerg Syndrome
Tremor, Abnormal posturing, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, High palate, Narrow chest, Type 1 muscle fib... ORPHA:171439
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postural tremor, Kyphoscolios... ORPHA:3115
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ... OMIM:605637
Arthrogryposis Multiplex Congenita 6
Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame... OMIM:619334
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Elevated circulating creat... OMIM:606070
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Rocker bottom foot, Short neck, ... OMIM:611890
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets, Dystonia OMIM:619065
Congenital Myopathy With Myasthenic-Like Onset
Recurrent respiratory infections, Scapular winging, Multiple joint contractures, Elevated circula... ORPHA:424107
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ... OMIM:601462
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis, ... ORPHA:101075
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Kyphosis, Pectus carinatum, Hip dysplasia, Tongue fasciculations, Facial myokymia, Narrow... OMIM:620007
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Micromelia, Kyphosis, Abnormal ... ORPHA:2635
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... OMIM:605809
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi... OMIM:253700
Endosteal Hyperostosis, Worth Type
Sclerotic vertebral body, Facial palsy, Abnormal rib morphology, Abnormal form of the vertebral b... ORPHA:2790
Muscle Filaminopathy
Back pain, Extremely elevated creatine kinase, Scapular winging, Fatty replacement of skeletal mu... ORPHA:171445
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Short neck, Vocal cord paralysis, ... ORPHA:98863
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... OMIM:254210
Combined Oxidative Phosphorylation Deficiency 8
Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood OMIM:614096
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Facial palsy, Fatty replacement of skeletal muscle, Fl... OMIM:616165
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy, Frontalis muscle wea... OMIM:300580
Myasthenic Syndrome, Congenital, 25, Presynaptic
Spinal rigidity, Kyphosis, Decreased compound muscle action potential amplitude, Flexion contract... OMIM:618323
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Tongue atrophy, Lower limb spasticity, Kyphoscoliosis, B... ORPHA:496689
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Bell-shaped thorax, High palate, Scoliosis, Arthrogryp... ORPHA:178148
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Vocal cord paralysis, Decreased ce... ORPHA:98853
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... ORPHA:101097
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Frequent falls, Elevated c... ORPHA:353
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Short neck, Metaphyseal widening, Flexion contracture, Coxa vara, Metaph... OMIM:300232
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis ORPHA:101078
Central Core Disease
Multiple joint contractures, Congenital hip dislocation, Elevated circulating creatine kinase con... ORPHA:597
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi... OMIM:618138
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Pectus ... ORPHA:171881
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Tongue atrophy, Quadriceps muscle atrophy, Angulated mus... OMIM:620285
Heart Defects-Limb Shortening Syndrome
Death in infancy, Mesomelic/rhizomelic limb shortening, Kyphosis, Abnormal rib morphology, Abnorm... ORPHA:1354
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Proximal muscle weakness in uppe... OMIM:613954
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Facial palsy, Ankle flexion contracture, Recurrent infection... OMIM:617519
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i... OMIM:613157
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Spinal cord compression... OMIM:222600
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Nemaline Myopathy 8
Death in infancy, Facial palsy, Flexion contracture, Myofibrillar myopathy, Nemaline bodies OMIM:615348
Poland Syndrome
Syndactyly, Unilateral oligodactyly, Unilateral absence of pectoralis major muscle, Unilateral hy... OMIM:173800
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Talipes cavus equinovarus, Abnormality of the calf musculature, Proximal... ORPHA:59135
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Tongue atrophy, Multiple joint contractures, Increased Z-disc width, Sho... OMIM:617114
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Frequent falls, Hand muscle weakness, Ty... ORPHA:98915
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Frequent falls, Hyperlordosis, Spinal rigidity, Rigidity, Limb muscle weakness, Hyp... OMIM:161800
Classic Glucose Transporter Type 1 Deficiency Syndrome
Cyanosis, Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapy... ORPHA:71277
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, High, narrow... ORPHA:536516
Spondylometaphyseal Dysplasia, Type A4
Brachydactyly, Ovoid vertebral bodies, Coxa valga, Metaphyseal sclerosis, Enlargement of the cost... OMIM:609052
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigabl... ORPHA:803
Brachyolmia Type 1, Hobaek Type
Back pain, Sclerotic foci of metaphyses of the elbow, Flattened proximal radial epiphyses, Short ... OMIM:271530
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Generalized dystonia, Multiple joint contractures, Writer's cramp, Facial palsy, Tre... OMIM:128100
Metaphyseal Chondrodysplasia, Schmid Type
Broad proximal phalanges of the hand, Bowing of the legs, Short tubular bones of the hand, Proxim... ORPHA:174
Striatonigral Degeneration, Infantile, Mitochondrial
Lingual dystonia, Paroxysmal choreoathetosis, Ragged-red muscle fibers OMIM:500003
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Elevated circulating creatine kinase concentration, Hyperlordosis, Spinal ... OMIM:617404
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy OMIM:607855
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Finger syndactyly, Abnormal scapula morphology, Congenital diaphragmatic hernia, Aplasia/hypoplas... ORPHA:2141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Vertebral fusion, Facial palsy, Elbow contracture, Hyperlordosis, Elevat... OMIM:606612
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Enlarged epiphyses, Proximal placement of thumb, Short neck, Flexion contracture, Coxa... OMIM:613330
Idiopathic Camptocormia
Myositis, Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Parkinsonism, E... ORPHA:1320
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ragged-red muscle fibers, Rhabdomyolysis, Choreoathetosis, Dystonia, Weakness of facial musculature OMIM:618416
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Type 1 muscle fiber predominance, Dystonia OMIM:618276
Bronchogenic Cyst
Back pain, Abnormality of the cervical spine, Abnormal pulmonary thoracic imaging finding, Pulmon... ORPHA:2357
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Elevated circulating creatine kinase concentration, Qua... ORPHA:206546
Spastic Paraplegia Type 7
Optic disc pallor, Ragged-red muscle fibers, Optic atrophy, Abnormal pyramidal sign, Babinski sig... ORPHA:99013
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies, Intrauterine growth retardation OMIM:618246
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Intestinal pseudo-obstruction, Ataxia, Centrally nucle... OMIM:607459
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Overlapping toe, Short thumb, Kyphosis, Camptodactyly, Clinodactyly of the 5th finger OMIM:618453
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Flared iliac wing, Platyspondyly, Scol... OMIM:230650
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Elevated circulating creatine kinase concentration, Hyperlordosis,... ORPHA:52430
Acro-Renal-Mandibular Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Abnorma... ORPHA:958
Zimmermann-Laband Syndrome 3
Aplasia of the distal phalanx of the 5th toe, Kyphosis, Flexion contracture, Thick lower lip verm... OMIM:618658
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Elevated circulating creatine kinase concentration, Hyperlordosis, Fatty repla... OMIM:620249
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Spondylometaphyseal Dysplasia, Kozlowski Type
Short tubular bones of the hand, Increased intervertebral space, Delayed epiphyseal ossification,... ORPHA:93314
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Bronchopulmonary Dysplasia
Atelectasis, Abnormal lung morphology, Diaphragmatic paralysis, Pulmonary sequestration, Hyperoxe... ORPHA:70589
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph... OMIM:616470
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Acromesomelic Dysplasia, Maroteaux Type
Bowing of the long bones, Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the v... ORPHA:40
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Ankle f... OMIM:613818
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, Death in... OMIM:609560
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abn... ORPHA:99014
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Elevated circulating creatine kinase concentration, Decreased cervical spine flexion d... ORPHA:98855
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Neonatal death OMIM:618237
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis ORPHA:640
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Proximal femoral metaphyseal irregularit... ORPHA:168549
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Hyperlordosis, Abnormal ... ORPHA:3068
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Metaphyseal widening, Anterior atlanto-occipital dislocation, Pectus... ORPHA:536467
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fat... ORPHA:329478
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Craniofacial dystonia, Plantar flexion contracture, Arthrogryposis-like ... OMIM:620011
Lethal Congenital Contracture Syndrome 9
Elbow extension contracture, Ulnar deviation of the hand, Centrally nucleated skeletal muscle fib... OMIM:616503
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Elevated circulating creatine kinase concentration, Hand ... ORPHA:254886
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Diastrophic Dysplasia
Abnormal clavicle morphology, Bowing of the long bones, Recurrent respiratory infections, Camptod... ORPHA:628
Dyggve-Melchior-Clausen Disease
Short neck, Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Pectus carinatum, Femoral... OMIM:223800
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Autosomal Recessive Spondylocostal Dysostosis
Rib segmentation abnormalities, Finger syndactyly, Abnormal intervertebral disk morphology, Campt... ORPHA:2311
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb mo... ORPHA:1120
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Waardenburg Syndrome Type 3
Tented upper lip vermilion, Camptodactyly of finger, Atelectasis, Spastic paraplegia, Abnormal fi... ORPHA:896
Dyggve-Melchior-Clausen Disease
Glenoid fossa hypoplasia, Short neck, Coxa vara, Pectus carinatum, Broad ribs, Iliac crest serrat... ORPHA:239
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, High palate, Periodic paralysis, Hyperlordosis OMIM:614198
Craniofrontonasal Dysplasia
Abnormal clavicle morphology, Finger syndactyly, Broad hallux phalanx, Sandal gap, Down-sloping s... ORPHA:1520
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb postural tremor, Gait ataxi... OMIM:180800
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Flexion contracture, Calf m... OMIM:609308
Lipodystrophy, Congenital Generalized, Type 4
Hypertriglyceridemia, Elevated circulating creatine kinase concentration, Centrally nucleated ske... OMIM:613327
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Oculomotor apraxia, Congenital foot contractures, Distal amyotrophy, Scoliosis, Clinoda... ORPHA:3454
Congenital Myopathy 24
Scapular winging, Facial palsy, Pectus excavatum, Abnormal circulating creatine kinase concentrat... OMIM:617336
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Intrinsic... OMIM:614895
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Elevated circulating creatine kinase con... ORPHA:610
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tented upper lip vermilion,... ORPHA:98905
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Snakebite Envenomation
Hyponatremia, Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fi... ORPHA:449285
Becker Nevus Syndrome
Micromelia, Pectus excavatum, Kyphosis, Abnormal tibia morphology, Rib fusion, Pectus carinatum, ... ORPHA:64755
Neurogenic Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:100073
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Tongue atrophy, Recurrent respiratory infections, A... OMIM:211530
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:258450
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Rhizomelic Chondrodysplasia Punctata, Type 5
Short humerus, Thoracic scoliosis, Swan neck-like deformities of the fingers, Skeletal muscle atr... OMIM:616716
Wieacker-Wolff Syndrome
Proximal placement of thumb, Short neck, High palate, Narrow chest, Long philtrum, Facial palsy, ... OMIM:314580
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers, Dystonia OMIM:610246
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic gait, Spastic paraplegia, Hand tremor, An... OMIM:614409
Andersen Cardiodysrhythmic Periodic Paralysis
Dental crowding, Short metatarsal, Oligodontia, High palate, Short palm, Clinodactyly of the 5th ... OMIM:170390
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Protruding tongue, Hyperlordosis, Atelectasi... ORPHA:258
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Split hand, Optic atrophy, Clumsiness, Generalized amyotrop... OMIM:614707
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Elevated circulating creatine ... OMIM:611588
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Cleft palate, Tooth agenesis, Vertebral segmentation defect, Hyp... ORPHA:1166
Spondylometaphyseal Dysplasia, Axial
Rhizomelia, Anterior rib cupping, Proximal femoral metaphyseal irregularity, Recurrent pneumonia,... OMIM:602271
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Hypokalemia, Periodic paralysis OMIM:613345
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Hyperkalemic Periodic Paralysis
Hyponatremia, Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyper... ORPHA:682
Fibrosis Of Extraocular Muscles, Congenital, 3C
Pectus excavatum, Thin upper lip vermilion, Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Pseudoachondroplasia
Spatulate ribs, Delayed epiphyseal ossification, Metaphyseal widening, Fragmented, irregular epip... OMIM:177170
Myoclonus, Intractable, Neonatal
Athetosis, Increased variability in muscle fiber diameter OMIM:617235
Kyphomelic Dysplasia
Bowing of the long bones, Anterior rib cupping, Micromelia, Missing ribs, Lateral clavicle hook, ... ORPHA:1801
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Short-Rib Thoracic Dysplasia 12
Bowing of the legs, Short neck, Lobulated tongue, Thoracic dysplasia, Narrow chest, Short palm, N... OMIM:269860
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Sprengel Deformity
Rib segmentation abnormalities, Cervical segmentation defect, Shoulder muscle hypoplasia, Hemiver... OMIM:184400
Craniodiaphyseal Dysplasia, Autosomal Dominant
Papilledema, Thickened ribs, Optic atrophy, Diaphyseal sclerosis, Death in adolescence, Facial di... OMIM:122860
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Tapered finger, Pectus excavatum, Kyphosis, Pectus carinatum, Large hands, Oligodontia, Everted l... ORPHA:276630
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber dia... ORPHA:397744
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Irregular femoral epiphysis, Vertebral wedging, Genu valgum, Bell-shaped thorax, ... OMIM:255710
Jeune Syndrome
Abnormal clavicle morphology, Toe syndactyly, Micromelia, Postaxial hand polydactyly, Short thora... ORPHA:474
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Short neck, Abnormal rib morphology, Abnormal form of the vertebral bodi... ORPHA:1486
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Upper limb postural tremor ORPHA:477774
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Femoral-Facial Syndrome
Thin upper lip vermilion, Short femur, Abnormal sacrum morphology, Rib fusion, Abnormal rib morph... ORPHA:1988
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Left ventric... OMIM:252011
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Hyperextensibility of the finger joints, Thoracolumbar scoliosis, Tapered finger... OMIM:313420
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Overlapping fingers, Torticollis, Short neck, Increased variability in muscle... OMIM:617022
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Broad toe, Lumbar hyperlordosis, Enlarged metacarpal epiphyses, Cupped ribs, Enlarged epiphyses o... OMIM:609616
Fibrochondrogenesis 1
Short neck, Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Posterior v... OMIM:228520
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Elevated circulating creatine kinase concentration,... OMIM:615084
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Familial Cervical Artery Dissection
Abnormal circulating lipid concentration, Facial palsy, Paralysis ORPHA:36382
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
3M Syndrome
Congenital hip dislocation, Micromelia, Short neck, Increased vertebral height, Enlarged thorax, ... ORPHA:2616
Coenzyme Q10 Deficiency, Primary, 9
Tremor, Type 2 muscle fiber predominance OMIM:619028
Mesomelic Dysplasia, Kantaputra Type
Camptodactyly of finger, Tarsal synostosis, Abnormality of the humerus, Abnormal rib morphology, ... ORPHA:1836
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Ataxia, Clonus, Pa... ORPHA:300605
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Dental malocclusion, Fatigable weak... OMIM:608931
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Short metacarpal, Rhizomelia, Ovoid vertebral bodies, Cupped ribs, Metaphyseal widening, Dental m... OMIM:608940
Greig Cephalopolysyndactyly Syndrome
Broad hallux phalanx, Broad hallux, 1-3 toe syndactyly, Abnormal muscle fiber morphology, Preaxia... OMIM:175700
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Abnormal clavicle morphology, Bowing of the long bones, Rhizomelia, Proximal placement of thumb, ... ORPHA:93267
Mosaic Trisomy 14
Camptodactyly of finger, Short neck, Abnormal rib morphology, Cleft palate, Wide mouth, Ectopic a... ORPHA:1703
Autosomal Dominant Spondylocostal Dysostosis
Recurrent respiratory infections, Missing ribs, Short neck, Hyperlordosis, Abnormal sacrum morpho... ORPHA:1797
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Dysosteosclerosis
Increased intervertebral space, Hypoplastic vertebral bodies, Irregular vertebral endplates, Olig... OMIM:224300
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Tapered finger, Pectus excavatum, Short neck, Recurrent upper re... ORPHA:284180
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Ataxia, High, narrow palate, Kyphosis, Split hand, Scoliosis, Foot dorsiflexor weakness OMIM:618124
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Congenital hip dislocation, Cervical kyphosis, Micromelia, Bowing of the... OMIM:255800
Cooper-Jabs Syndrome
Camptodactyly of finger, Proximal placement of thumb, Missing ribs, Congenital diaphragmatic hern... ORPHA:1488
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Generalized limb muscle atrophy, Myopathy, High palate, Scoliosis, Long philtrum ORPHA:2598
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Hypo- And Hypermelanotic Cutaneous Macules-Retarded Growth-Intellectual Disability Syndrome
Abnormal rib morphology ORPHA:2435
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Abnormal s... ORPHA:157941
Acrocapitofemoral Dysplasia
Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal... OMIM:607778
Asbestos Intoxication
Cyanosis, Ground-glass opacification, Atelectasis, Pleural thickening, Abnormal pulmonary interst... ORPHA:2302
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Arachnodactyly, Pectus excavatum, Kyphosis, Absent phalangeal crease, Dist... OMIM:108145
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Abnormal thorax morphology, Flexion contracture, Thin ribs... ORPHA:171430
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Platyspondylic Lethal Skeletal Dysplasia, Torrance Type
Micromelia, Short neck, Narrow chest, Severe limb shortening, Radial bowing, Rhizomelia, Dumbbell... OMIM:151210
Spondylometaphyseal Dysplasia, Kozlowski Type
Irregular, rachitic-like metaphyses, Short neck, Coxa vara, Pectus carinatum, Halberd-shaped pelv... OMIM:184252
Craniodiaphyseal Dysplasia
Optic atrophy, Abnormal rib morphology, Diaphyseal thickening ORPHA:1513
Stuve-Wiedemann Syndrome 2
Bowing of the long bones, Death in adolescence, Short long bone, Stillbirth, Scoliosis, Camptodac... OMIM:619751
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle fiber size, Increased e... OMIM:620278
Myofibrillar Myopathy 10
Sandal gap, Elevated circulating creatine kinase concentration, Ankle flexion contracture, Kyphos... OMIM:619040
Renpenning Syndrome
Skeletal muscle atrophy, Macrodontia, Pectus excavatum, Abnormal thumb morphology, High, narrow p... ORPHA:3242
Greig Cephalopolysyndactyly Syndrome
Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Congenital diaphragmatic hernia, Preaxia... ORPHA:380
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Kyphosis, Deep philtrum, Wide mouth, Hypertonia, Short philtrum, Thick vermilion ... OMIM:615834
Spondyloepimetaphyseal Dysplasia, Irapa Type
Short metacarpal, Micromelia, Short metatarsal, Abnormal rib morphology, Abnormal carpal morpholo... ORPHA:93351
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Hypoplastic scapulae, Femoral retroversion, Micromelia, Kyphosis, Orofa... ORPHA:79107
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Ba... OMIM:609541
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Hypokalemia, Periodic paralysis OMIM:170400
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Radial deviation of the hand, Rocker bottom foot, Facial palsy, Short neck, Kyph... OMIM:301041
Winchester Syndrome
Kyphosis, Gingival overgrowth, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metaca... OMIM:277950
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Alpha-Mannosidosis
Recurrent respiratory infections, Bowing of the long bones, Short neck, Open bite, Kyphosis, Dent... ORPHA:61
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Short thorax, Flexion contracture, Pectus cari... ORPHA:87876
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Acute Interstitial Pneumonia
Cyanosis, Peribronchovascular interstitial thickening, Nodular pattern on pulmonary HRCT, Ground-... ORPHA:79126
Combined Oxidative Phosphorylation Defect Type 13
Hip contracture, Ankle flexion contracture, Choreoathetosis, Lower limb hypertonia, Type 1 muscle... ORPHA:319514
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Clonus, Pectus carinatum ORPHA:319199
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Hypertonia, Hig... ORPHA:192
Farber Disease
Skeletal muscle atrophy, Nodular pattern on pulmonary HRCT, Paraparesis, Short toe, Flexion contr... ORPHA:333
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Congenital hip dislocation, Short neck, Knee flexion contracture, Cutaneou... OMIM:114300
Acromesomelic Dysplasia 2A
Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p... OMIM:200700
Cutis Laxa-Marfanoid Syndrome
Arachnodactyly, Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Emphysema ORPHA:171719
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Femoral bowing, Knee flexion contracture, Short 5th metacarpal, Radial bowing, Rhizomelia, Broad ... OMIM:618019
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, A... OMIM:253310
Metaphyseal Chondrodysplasia, Schmid Type
Irregular acetabular roof, Metaphyseal chondrodysplasia, Metaphyseal widening, Coxa vara, Femoral... OMIM:156500
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Dysplastic iliac wing, Lumbar hyperlordosis, Metaphyseal spurs, Micromelia, Bowing of the legs, P... OMIM:608728
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Abnormal lower motor neuron morphology, Ne... ORPHA:276244
Holt-Oram Syndrome
Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Pectus exc... ORPHA:392
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Titubation, Dystonia, Abnormal posturing, Hypomimic face ORPHA:225147
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Tremor, Opisthotonus, Choreoa... ORPHA:79139
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Brachydactyly, Club-shaped proximal femur, Anterior rib cupping, Hyperlordosis, Hypoplasia of the... OMIM:184250
Cartilage-Hair Hypoplasia
Micromelia, Short neck, Metaphyseal chondrodysplasia, Abnormal form of the vertebral bodies, Pect... ORPHA:175
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Ataxia, Kyphosis, Hip dislocation, Talipes equinovar... OMIM:616756
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Talipes equinovar... OMIM:303350
Mucopolysaccharidosis, Type Iva
Short neck, Epiphyseal deformities of tubular bones, Metaphyseal widening, Pectus carinatum, Wide... OMIM:253000
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Recurrent respiratory infections, Congenital hip dislocation, Ata... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Recurrent respiratory infections, Congenital hip dislocation, Ata... ORPHA:98914
Short-Rib Thoracic Dysplasia 17 With Or Without Polydactyly
Death in infancy, Lateral clavicle hook, Postaxial hand polydactyly, Postaxial foot polydactyly, ... OMIM:617405
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Recurrent respiratory infections, Arachnodactyly, Abnormality of the dentition, Kyphosis, Pectus ... ORPHA:1548
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Pectus carinatum, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
X-Linked Intellectual Disability, Stocco Dos Santos Type
Congenital bilateral hip dislocation, Recurrent respiratory infections, Kyphosis, Talipes equinov... ORPHA:85288
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Congenital hip dislocation, Femur fracture, Ulnar deviati... OMIM:618291
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Elevated circulating creatine kinase concentration, Hyperlordosis, Kyphosis, Ac... OMIM:607155
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Clonus, Decreased compound muscle action potential amplitude, Bronchiectasis, S... OMIM:620080
Van Den Bosch Syndrome
Recurrent respiratory infections, Scapular winging, Unfavorable response of muscle weakness to ac... ORPHA:3417
Rabies
Recurrent pharyngitis, Vocal cord paresis, Cerebral palsy ORPHA:770
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Hip d... ORPHA:464282
Crisponi Syndrome
Death in infancy, Camptodactyly of finger, Narrow mouth, Kyphosis, Flexion contracture, Hypertoni... ORPHA:1545
Desbuquois Dysplasia 1
Triangular shaped phalanges of the hand, Short neck, Metaphyseal widening, Short metatarsal, Coxa... OMIM:251450
Uruguay Faciocardiomusculoskeletal Syndrome
Hallux valgus, Congenital hip dislocation, Left ventricular hypertrophy, Elevated circulating cre... OMIM:300280
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Downturned corners of mouth, Advanced e... ORPHA:2215
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Recurrent respiratory infections, Ataxia, Ground-glass opacification, Atelectasis, Pulmonary infi... OMIM:610978
Congenital Myopathy 22B, Severe Fetal
Thoracic scoliosis, Tented upper lip vermilion, Dental crowding, Short neck, Flexion contracture,... OMIM:620369
Axial Mesodermal Dysplasia Spectrum
Congenital diaphragmatic hernia, Missing ribs, Short neck, Abnormal rib morphology, Gingival over... ORPHA:1834
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Selective tooth agenesis, Knee flexion contracture, Increased density of... OMIM:305620
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Kyphosis, Congenital contracture, Hypertonia, Short philtrum, Joint contracture o... ORPHA:352490
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Decreased motor nerve conduction velocity, Short neck, Flexion contracture, Spastic paraplegia, H... OMIM:619026
Fibrochondrogenesis
Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Short neck, Wide anterior fontanel, Ab... ORPHA:2021
15Q24 Microdeletion Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Abnormal thumb morphology, Abnormal... ORPHA:94065
Cleidocranial Dysplasia
High, narrow palate, Coxa vara, Glossoptosis, Narrow chest, Hypoplastic inferior ilia, Clinodacty... ORPHA:1452
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Thick low... ORPHA:812
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Sandal gap, Tremor, Kyphosis, Thick lower lip vermilion, Small hand... OMIM:300354
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Emphysema, Congenital diaphragmatic hernia, Arachnodactyly, Hip dislocation OMIM:614100
Spondyloepimetaphyseal Dysplasia, Irapa Type
Metaphyseal dysplasia, Short metacarpal, Lumbar hyperlordosis, Hypoplastic sacrum, Enlargement of... OMIM:271650
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Small hand, Hip dislocation, Short foot, Talipes equinovarus, Scoliosis OMIM:300434
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Tongue atrophy, Decreased distal sensory nerve action po... ORPHA:99956
Three M Syndrome 2
Delayed eruption of teeth, Scapular winging, Lumbar hyperlordosis, Short neck, Hyperlordosis, Sho... OMIM:612921
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Variegate Porphyria
Paralysis OMIM:176200
Mucopolysaccharidosis, Type Ivb
Epiphyseal deformities of tubular bones, Metaphyseal widening, Widely spaced teeth, Flaring of ri... OMIM:253010
Mucopolysaccharidosis Type 4
Bowing of the long bones, Abnormal dental enamel morphology, Coxa valga, Grayish enamel, Abnormal... ORPHA:582
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Paralysis OMIM:300857
Klippel-Feil Syndrome 1, Autosomal Dominant
Congenital muscular torticollis, Short neck, Abnormal rib morphology, Cleft palate, Scoliosis, Ce... OMIM:118100
Hurler Syndrome
Abnormal clavicle morphology, Death in infancy, Cerebral palsy, Recurrent respiratory infections,... ORPHA:93473
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Short neck, Pectus excavatum, Spinal co... ORPHA:2522
Proximal 16P11.2 Microduplication Syndrome
Thin upper lip vermilion, Arachnodactyly, Congenital diaphragmatic hernia, Tremor, Hemivertebrae,... ORPHA:370079
Achondrogenesis, Type Ia
Abnormal femoral metaphysis morphology, Micromelia, Beaded ribs, Bowing of the legs, Abnormal han... OMIM:200600
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
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
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Acrocallosal Syndrome
Abnormal clavicle morphology, Congenital diaphragmatic hernia, Wide anterior fontanel, Postaxial ... ORPHA:36
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy ORPHA:1875
Mucopolysaccharidosis Type 6
Epiphyseal dysplasia, Ovoid vertebral bodies, Short neck, Kyphosis, Thick lower lip vermilion, Re... ORPHA:583
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Elevated circulating creatine kinase concent... ORPHA:206569
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Micromelia, Short ne... ORPHA:800
Poland Syndrome
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Short neck, Aplasia of the pect... ORPHA:2911
Tonne-Kalscheuer Syndrome
Congenital diaphragmatic hernia, Tremor, Velopharyngeal insufficiency, Downturned corners of mout... OMIM:300978
Fetal Encasement Syndrome
Bilateral trilobed lung, Congenital diaphragmatic hernia, Upper limb undergrowth, Lower limb unde... OMIM:613630
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ataxia, Clonus, Elevated circulating creatine kinase concentration, Ragg... OMIM:616479
Thyrotoxic Periodic Paralysis
Episodic hypokalemia, Transient hypophosphatemia, Abnormal muscle fiber morphology, Tremor, Paral... ORPHA:79102
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Micromelia, Bowing of the legs, Short neck, Pectus carinatum, Abnormal calcification of the carpa... OMIM:271665
Prune Belly Syndrome
Recurrent respiratory infections, Congenital hip dislocation, Intestinal malrotation, Pectus exca... ORPHA:2970
Hypophosphatasia
Bowing of the long bones, Hypercalcemia, Abnormality of the dentition, Emphysema, Abnormal rib mo... ORPHA:436
Mcdonough Syndrome
Pectus excavatum, Open bite, Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Dent... ORPHA:2471
Richieri Costa-Da Silva Syndrome
Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Abnormality of the dentition, Metatarsus ... ORPHA:3101
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Broad hallux phalanx, Toe syndactyly, Metatarsus valgus, Aplasia/Hypoplasia of toe, Short neck, P... ORPHA:3082
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Vocal cord paralysis, Intrinsic... OMIM:615490
Schneckenbecken Dysplasia
Short neck, Lateral clavicle hook, Snail-like ilia, Narrow chest, Dumbbell-shaped long bone, Flat... OMIM:269250
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... ORPHA:268882
Mucopolysaccharidosis, Type X
Irregular acetabular roof, Spatulate ribs, Broad clavicles, Diastema, Open bite, Hyperlordosis, G... OMIM:619698
Cdkl5-Deficiency Disorder
Hallux valgus, Broad proximal phalanges of the hand, Kyphosis, Deep philtrum, Everted lower lip v... ORPHA:505652
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
C1Q Deficiency 2
Elevated circulating C-reactive protein concentration, Atelectasis, Bronchiectasis, Oral ulcer, R... OMIM:620321
Zaki Syndrome
Sacral dimple, Toe syndactyly, Congenital diaphragmatic hernia, Long fingers, Wide mouth, Median ... OMIM:619648
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Elevated circulating creatine kinase concentration, Spinal rigidi... ORPHA:352447
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy, Head tremor, Titubation ORPHA:98771
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Short neck, Metaphyseal widening, Delayed proximal femoral epiphyseal ossification, Flexion contr... OMIM:271640
Rhizomelic Syndrome, Urbach Type
Brachydactyly, Rhizomelia, Short neck, Abnormality of the humerus, Preaxial hand polydactyly, Kyp... ORPHA:3098
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Speech apraxia, Incoordination, Facial palsy, Elevated circul... ORPHA:297
Spondyloperipheral Dysplasia
Short distal phalanx of the 4th finger, Short neck, Short metatarsal, Pectus carinatum, Irregular... OMIM:271700
Weismann-Netter Syndrome
Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Kyphosis, Abno... ORPHA:3344
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Mucopolysaccharidosis, Type Vii
Spatulate ribs, Short neck, Flexion contracture, Pectus carinatum, Narrow greater sciatic notch, ... OMIM:253220
Juberg-Hayward Syndrome
Toe syndactyly, Short thumb, Hypoplasia of the radius, Abnormal finger morphology, Abnormal rib m... ORPHA:2319
Oculocerebrocutaneous Syndrome
Finger syndactyly, Congenital hip dislocation, Congenital diaphragmatic hernia, Aplasia/Hypoplasi... ORPHA:1647
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Tented upper lip vermilion, Clonus, Elevated circulating creatine kinase concentration, Flexion c... OMIM:620240
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Pyloric stenosis, Rib fusion, Cleft palate, Chor... ORPHA:261197
Melnick-Needles Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Coxa valga... ORPHA:2484
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Death in infancy, Recurrent respiratory infections, Block vertebrae,... OMIM:277300
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Babinski sign, Optic atrophy, Clumsiness, Athetosis, Distal amyotr... OMIM:271245
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Chorea, Myopathy, Abnormal circulating creatine kinase concentration, Limb-girdle ... ORPHA:369840
Smith-Mccort Dysplasia 1
Barrel-shaped chest, Short metacarpal, Hypoplastic scapulae, Iliac crest serration, Multicentric ... OMIM:607326
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Pectus carinatum, Delayed ossification of carpal bones, Short femoral neck, Brachydactyly OMIM:618392
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Tongue atrophy, Freque... ORPHA:99949
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Acrorenal-Mandibular Syndrome
Congenital diaphragmatic hernia, Hemivertebrae, High palate, Narrow chest, Hypoplasia of the ulna... OMIM:200980
Borjeson-Forssman-Lehmann Syndrome
Shortening of all middle phalanges of the fingers, Tapered finger, Kyphosis, Short toe, Shortenin... OMIM:301900
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Multiple rib fractures, Short femur, Fractured radius, Decreased fibular diameter, Beaded ribs, S... OMIM:616897
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Abnormal metatarsal morphology, Delayed epiphyseal ossification, Abnormal curvature of the verteb... ORPHA:93360
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Syndactyly, Toe syndactyly, Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary hy... OMIM:601163
Mucus Inspissation Of Respiratory Tract
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:253240
Mucolipidosis Iii Gamma
Increased serum beta-hexosaminidase, Short neck, Flat capital femoral epiphysis, Hyperlordosis, K... OMIM:252605
Thanatophoric Dysplasia, Type I
Bowing of the long bones, Small abnormally formed scapulae, Short neck, Hypoplastic ilia, Wide-cu... OMIM:187600
Marden-Walker Syndrome
Decreased muscle mass, Arachnodactyly, Short neck, High, narrow palate, Narrow mouth, Pyloric ste... OMIM:248700
Bruck Syndrome 1
Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow flexion contract... OMIM:259450
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Short distal phalanx of the 5th finger, Cleft palate, Wide mouth, M... OMIM:614608
Imperforate Oropharynx-Costovertebral Anomalies Syndrome
Recurrent respiratory infections, Arachnodactyly, Abnormality of the philtrum, Aplasia/Hypoplasia... ORPHA:2759
Chromosome 1Q41-Q42 Deletion Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Sandal gap, Congenital diaphragmatic hernia... OMIM:612530
Ciliary Dyskinesia, Primary, 47, And Lissencephaly
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:619466
Oculocerebrorenal Syndrome Of Lowe
Dental crowding, Clonus, Hypoammonemia, Deep philtrum, Gingivitis, Periodontitis, Hyponatremia, D... ORPHA:534
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Kyphosis, Chorea, Abnormal pyramidal sign, Pectus carinatum, Gait ataxia, Abnormality of extrapyr... ORPHA:500180
Gillessen-Kaesbach-Nishimura Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Short neck, Wide anterior fontanel,... OMIM:263210
Sandifer Syndrome
Abnormal posturing, Torticollis ORPHA:71272
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Decreased miniature endplate potentials, Prolonged miniature endplate currents OMIM:616321
Pelger-Huet Anomaly
Foot dorsiflexor weakness, Abnormality of the dentition, Kyphosis, Upper limb undergrowth, Gingiv... OMIM:169400
Dysostosis, Stanescu Type
Bowing of the long bones, Abnormal dental enamel morphology, Micromelia, Abnormality of the denti... ORPHA:1798
Achondroplasia
Lumbar hyperlordosis, Rhizomelia, Hip joint hypermobility, Bowing of the legs, Short proximal pha... ORPHA:15
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio... OMIM:187601
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Small hand, Abnormal pyramidal sign, Short foot, Ankle clonus, Bradykinesia, Hy... OMIM:617435
Achondrogenesis Type 1B
Micromelia, Short neck, Short thorax, Abnormal rib morphology, Short foot, Aplasia/Hypoplasia of ... ORPHA:93298
Grant Syndrome
Bowing of the long bones, Open bite, Abnormal rib morphology, Abnormal pelvic girdle bone morphol... ORPHA:2097
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Hypoplasia of ... OMIM:613091
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Hypokalemia, Rhabdomyolysis, Periodic paralysis OMIM:188580
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Congenital diaphragmatic hernia, Crowded maxillary incisors, Abnormal lung lobation, Abnormal fem... ORPHA:2063
Retinitis Pigmentosa, X-Linked, And Sinorespiratory Infections With Or Without Deafness
Atelectasis, Recurrent bronchitis OMIM:300455
Fibrochondrogenesis 2
Hypoplastic ischia, Hypoplastic ilia, Cupped ribs, Metaphyseal widening, Hypoplastic pubic bone, ... OMIM:614524
Spondyloepiphyseal Dysplasia Congenita
Back pain, Short neck, Glossoptosis, Barrel-shaped chest, Abnormally ossified vertebrae, Lumbar h... ORPHA:94068
Hip Dysplasia, Beukes Type
Abnormality of the epiphysis of the femoral head, Abnormal ossification involving the femoral hea... ORPHA:2114
Ruvalcaba Syndrome
Short metacarpal, Dental crowding, Micromelia, Kyphosis, Short metatarsal, Small hand, Short foot... OMIM:180870
Osteogenesis Imperfecta, Type Ix
Short lower limbs, Beaded ribs, Pectus excavatum, Kyphosis, Pectus carinatum, Platyspondyly, Scol... OMIM:259440
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Sandal gap, Morgagni diaphragmatic hernia,... OMIM:613177
Arthrogryposis, Distal, Type 4
2-5 finger cutaneous syndactyly, Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Distal ... OMIM:609128
Congenital Disorder Of Glycosylation, Type Iig
Thoracic scoliosis, Short neck, Glossoptosis, Vertebral segmentation defect, High palate, Rhizome... OMIM:611209
Hall-Riggs Syndrome
Metaphyseal dysplasia, Kyphosis, Thick lower lip vermilion, Microdontia of primary teeth, Irregul... OMIM:234250
Atelosteogenesis, Type I
Short neck, Short metatarsal, Tibial bowing, Narrow chest, Neonatal death, Vertebral hypoplasia, ... OMIM:108720
Short-Rib Thoracic Dysplasia 11 With Or Without Polydactyly
Recurrent respiratory infections, Postaxial polydactyly, Lateral clavicle hook, Bell-shaped thora... OMIM:615633
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor... OMIM:610743
Ossification Anomalies-Psychomotor Developmental Delay Syndrome
Decreased muscle mass, Abnormal thorax morphology, Metaphyseal widening, Abnormal form of the ver... ORPHA:73230
Gm1 Gangliosidosis
Tremor, Abnormal form of the vertebral bodies, Decerebrate rigidity, Aspiration pneumonia, Ataxia... ORPHA:354
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Intellectual Developmental Disorder, Autosomal Dominant 23
Thin upper lip vermilion, Sacral dimple, Sandal gap, Dental crowding, Postaxial polydactyly, Hype... OMIM:615761
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Pectus excavatum, Tremor, Increased variability in muscle fiber diameter, Dysm... ORPHA:502423
Thoracolaryngopelvic Dysplasia
Metaphyseal widening, Irregular chondrocostal junctions, Bell-shaped thorax, Narrow pelvis bone, ... OMIM:187760
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Thin upper lip vermilion, Kyphosis, Wide mouth, Everted lower lip vermilion, Short philtrum, Scol... ORPHA:2429
Spondyloepimetaphyseal Dysplasia, Missouri Type
Radial bowing, Rhizomelia, Irregular sclerotic endplates, Ulnar bowing, Flared metaphysis, Coxa v... OMIM:602111
Infant Acute Respiratory Distress Syndrome
Cyanosis, Pneumonia, Respiratory tract infection, Atelectasis, Abnormal thorax morphology, Hypoxe... ORPHA:70587
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Ataxia, Kyphosis, Dental malocclusion, Horner syndrome... OMIM:141300
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Congenital Diaphragmatic Hernia
Intestinal malrotation, Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm, Hyp... ORPHA:2140
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Metaphyseal widening, Flat glenoid fossa, Coxa vara, Short palm, Genu varum, Lumbar hyperlordosis... OMIM:250420
Ciliary Dyskinesia, Primary, 29
Recurrent respiratory infections, Atelectasis, Bronchiectasis OMIM:615872
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Elevated circulating creatine kinase concentration, Glycogen accumulation in mu... ORPHA:365
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Increased intervertebral space, Opisthotonus, Hypertonia, Narrow greater ... ORPHA:508533
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis, Abnormal b... ORPHA:684
Bent Bone Dysplasia Syndrome 2
Ulnar deviation of the hand, Bowed humerus, Short neck, Ulnar bowing, Femoral bowing, Thin ribs, ... OMIM:620076
Multicentric Carpotarsal Osteolysis Syndrome
Ulnar deviation of the hand, Congenital diaphragmatic hernia, Osteolysis involving tarsal bones, ... OMIM:166300
Anauxetic Dysplasia 3
Beaking of vertebral bodies, Recurrent respiratory infections, Short metacarpal, Thoracolumbar ky... OMIM:618853
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Sandal gap, Congenital diaphragmatic hernia, Long philtrum OMIM:300887
Frank-Ter Haar Syndrome
Delayed eruption of teeth, Beaking of vertebral bodies, Camptodactyly of finger, Kyphosis, Gingiv... ORPHA:137834
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Stuve-Wiedemann Syndrome 1
Short neck, Femoral bowing, Tibial bowing, Knee flexion contracture, Smooth tongue, Short tibia, ... OMIM:601559
Phaver Syndrome
Broad hallux phalanx, Camptodactyly of finger, Short thumb, Abnormal rib morphology, Abnormal for... ORPHA:2876
Spondylometaphyseal Dysplasia, Algerian Type
Metaphyseal dysplasia, Lumbar hyperlordosis, Bowed humerus, Anterior rib cupping, Kyphoscoliosis,... OMIM:184253
Multiple Pterygium Syndrome, X-Linked
Vertebral fusion, Abnormal cervical curvature, Cleft upper lip, Flexion contracture, Cleft palate... OMIM:312150
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Ciliary Dyskinesia, Primary, 33
Atelectasis, Recurrent pneumonia, Bronchiectasis, Recurrent lower respiratory tract infections, R... OMIM:616726
Robinow Syndrome, Autosomal Recessive 1
Tented upper lip vermilion, Dental crowding, Short neck, Hemivertebrae, Short palm, Thoracic hemi... OMIM:268310
13Q12.3 Microdeletion Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Congenital diaphragmatic hernia, Kyph... ORPHA:412035
Holt-Oram Syndrome
Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Pectu... OMIM:142900
Cenani-Lenz Syndrome
Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Abnormal dental enamel morphology, Mic... ORPHA:3258
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... ORPHA:88644
Microcephalic Primordial Dwarfism, Toriello Type
Recurrent respiratory infections, Abnormal rib morphology, Downturned corners of mouth, Abnormal ... ORPHA:2643
Ciliary Dyskinesia, Primary, 21
Atelectasis, Recurrent pneumonia, Bronchiectasis OMIM:615294
Weismann-Netter Syndrome
Anterior tibial bowing, Kyphosis, Squared iliac bones, Lateral femoral bowing, Fibular bowing, De... OMIM:112350
Trisomy 13
Median cleft lip, Abnormality of the dentition, High, narrow palate, Postaxial hand polydactyly, ... ORPHA:3378
Congenital Heart Defects And Skeletal Malformations Syndrome
Arachnodactyly, Sandal gap, Dental crowding, Congenital diaphragmatic hernia, Pectus excavatum, C... OMIM:617602
White Forelock With Malformations
Finger syndactyly, Deep philtrum, Abnormal rib morphology, Clinodactyly of the 5th finger, Spreng... ORPHA:2475
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Hitchhiker thumb, Thoracolumbar scoliosis, Spina bifida, 2-3... ORPHA:2437
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome
Sandal gap, Abnormal dental enamel morphology, Abnormal rib morphology, Hemivertebrae, Abnormal f... ORPHA:2180
Kyphomelic Dysplasia
Short humerus, Short metacarpal, Radial bowing, Short femur, Anterior rib cupping, Micromelia, Bo... OMIM:211350
Weaver Syndrome
Short fourth metatarsal, Calcaneovalgus deformity, Hypertonia, Hypoplastic iliac wing, Prominent ... OMIM:277590
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Deep philtrum, Gingival overgrowth, Macroglossia, Thick vermilion border OMIM:616455
Idiopathic Chronic Eosinophilic Pneumonia
Abnormal pulmonary thoracic imaging finding, Elevated circulating C-reactive protein concentratio... ORPHA:2902
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Lumbar hyperlordosis, Fl... OMIM:602471
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Greenberg Dysplasia
Micromelia, Beaded ribs, Abnormal lung lobation, Tetraphocomelia, Hypoplastic vertebral bodies, H... OMIM:215140
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint... ORPHA:93284
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Thin upper lip vermilion, Scapular winging, Sandal gap, Dental crowding, Tapered finger, Pectus e... OMIM:617061
Sandhoff Disease
Kyphosis, Ataxia, Recurrent respiratory infections ORPHA:796
Orofaciodigital Syndrome Iii
Pectus excavatum, Kyphosis, Postaxial hand polydactyly, Supernumerary tooth, Tongue nodules, Post... OMIM:258850
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Brachydactyly, Abnormality of the dentition, Kyphosis, Dental malocclusion, Hip dysplasia, Scolio... ORPHA:1858
Schaaf-Yang Syndrome
Abnormality of the philtrum, Rocker bottom foot, Tapered finger, Kyphosis, Flexion contracture, S... OMIM:615547
Myopathy, Mitochondrial, And Ataxia
Ataxia, Elevated circulating creatine kinase concentration, Pectus excavatum, Tremor, Dysmetria, ... OMIM:617675
Campomelic Dysplasia
Irregular dentition, Thoracic scoliosis, Anterior tibial bowing, Cervical kyphosis, Delayed epiph... OMIM:114290
Osteogenesis Imperfecta, Type Xiii
Angulated humerus, Skeletal muscle atrophy, Arachnodactyly, Kyphoscoliosis, Wide distal femoral m... OMIM:614856
Rett Syndrome
Skeletal muscle atrophy, Abnormality of the dentition, Kyphosis, Gait apraxia, Gait ataxia, Short... OMIM:312750
Multiple Synostoses Syndrome 1
Hypoplastic spinal processes, Symphalangism affecting the phalanges of the hand, Cutaneous finger... OMIM:186500
Wolf-Hirschhorn Syndrome
Hypoplastic pubic ramus, Congenital diaphragmatic hernia, Abnormal form of the vertebral bodies, ... ORPHA:280
Jansen-De Vries Syndrome
Thin upper lip vermilion, Hyperlordosis, Central diaphragmatic hernia, Small hand, Short foot, Wi... OMIM:617450
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Increased serum pyruvate, Ragged-red muscle fibers, Ataxia, Slurred speech ORPHA:1349
Congenital Fiber-Type Disproportion Myopathy
Congenital hip dislocation, Dental crowding, Flexion contracture, Knee flexion contracture, High ... ORPHA:2020
Mucopolysaccharidosis, Type Vi
Metaphyseal widening, Flexion contracture, Pectus carinatum, Hypoplastic iliac wing, Broad ribs, ... OMIM:253200
Rhizomelic Chondrodysplasia Punctata, Type 2
Short humerus, Decreased circulating plasmalogen concentration, Rhizomelia, Optic nerve hypoplasi... OMIM:222765
Optic Atrophy 11
Ataxia, Optic nerve hypoplasia, Gait apraxia, Optic atrophy, Dysmetria, Facial diplegia, Athetosi... OMIM:617302
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Rigidity, Ragged-red muscle ... OMIM:157640
Otopalatodigital Syndrome Type 2
Preaxial polydactyly, Glossoptosis, Oligodontia, Narrow chest, Short palm, Abnormal vertebral seg... ORPHA:90652
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Methylmalonic acidemia, Hypomethioninemia, Hyperhomocystinemia, Bell-shaped thorax, Elevated circ... OMIM:614857
Gm1 Gangliosidosis Type 1
Exaggerated startle response, Spatulate ribs, Gingival overgrowth, Spasticity, Pectus carinatum, ... ORPHA:79255
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Rib fusion, Hemivertebrae, Dysmetria, Ankle clonus, Scolio... OMIM:614688
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Death in infancy, Increased variability in muscle fiber diameter, Limb dystonia OMIM:604377
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Congenital diaphragmatic hernia, Short neck, Pectus carinatum, Shoulder dislocation, Narrow chest... OMIM:245600
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Hyperextensibility of the finger joints, Congenital hip dislocation, K... OMIM:619797
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy, Kyphosis, Scoliosis OMIM:618234
Urban-Rogers-Meyer Syndrome
Toe syndactyly, Abnormality of the philtrum, Camptodactyly of finger, Short neck, Kyphosis, Short... ORPHA:3409
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Death in infancy, Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Meconium Aspiration Syndrome
Abnormal pulmonary thoracic imaging finding, Atelectasis, Pneumothorax, Hypoxemia, Aspiration pne... ORPHA:70588
Vacterl/Vater Association
Finger syndactyly, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Prea... ORPHA:887
4Q21 Microdeletion Syndrome
Toe syndactyly, Micromelia, Abnormality of the dentition, Short neck, Kyphosis, Tremor, Small han... ORPHA:238750
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Tented upper lip vermilion, Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Metaphyseal wid... OMIM:618476
Lethal Kniest-Like Dysplasia
Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh... ORPHA:2347
Mosaic Trisomy 1
Thoracic scoliosis, Congenital diaphragmatic hernia, Orofacial cleft, Finger clinodactyly, Pulmon... ORPHA:1692
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Hypoplasia of the ulna, Tapered finger, Short neck, Hip dislocation, Thin ribs, Irregular vertebr... OMIM:618395
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Intestinal malrotation, Pectus excavatum, Kyphosis, Deep philtrum, Orofacial cleft, Incomplete cl... ORPHA:77300
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Abnormality of the tongue, Spasticity, Opisthotonus, Aspiration pneumonia, Abn... ORPHA:216866
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Tented upper lip vermilion, Rocker bottom foot, Postaxial polydacty... OMIM:617527
Autosomal Recessive Robinow Syndrome
Tented upper lip vermilion, Short neck, Orofacial cleft, Pectus carinatum, Downturned corners of ... ORPHA:1507
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Tapered finger, Kyphosis, Thick lower lip vermilion, Genu valgu... OMIM:300602
Fountain Syndrome
Metaphyseal dysplasia, Coarse metaphyseal trabecularization, Spina bifida, Pectus excavatum, Kyph... ORPHA:3219
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Carious teeth, Kyphosis, Scoliosis ORPHA:2047
Meier-Gorlin Syndrome 1
Lateral clavicle hook, Flat glenoid fossa, Flexion contracture, Hemivertebrae, Pectus carinatum, ... OMIM:224690
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Periodic hyperkalemic paralysis, Dental cr... ORPHA:37553
Holzgreve Syndrome
Abnormally ossified vertebrae, Aplasia/Hypoplasia of the tongue, Abnormal morphology of ulna, Abn... ORPHA:2167
Kagami-Ogata Syndrome
Long clavicles, Diastasis recti, Kyphoscoliosis, Coxa valga, Long fingers, Flexion contracture, T... OMIM:608149
Van Den Ende-Gupta Syndrome
Glenoid fossa hypoplasia, Dental crowding, Lateral clavicle hook, High, narrow palate, 2-3 toe cu... OMIM:600920
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Arachnodactyly, High, narrow palate, Kyphosis, Shoulder dislocation, Scoliosis, Hemiplegia, Adduc... ORPHA:2181
Hypomelanosis Of Ito
Syndactyly, Kyphosis, Thick lower lip vermilion, Irregularly spaced teeth, Hand polydactyly, Radi... OMIM:300337
Ruvalcaba Syndrome
Short metacarpal, Brachydactyly, Dental crowding, Proximal placement of thumb, Micromelia, Kyphos... ORPHA:3121
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Ragged-red muscle fi... OMIM:616239
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Barrel-shaped chest, Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Coxa vara, Hypoplasia... OMIM:313400
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Congenital muscular torticollis, Vertebral fusion, Macrodontia, Abnormal dental enamel morphology... ORPHA:2916
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Death in infancy, Rhizomelia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia, Abnormality o... ORPHA:163966
Osteogenesis Imperfecta, Type X
Multiple rib fractures, Thoracic scoliosis, Short femur, Rhizomelia, Bowing of the long bones, Mi... OMIM:613848
Emanuel Syndrome
Recurrent respiratory infections, Torticollis, Congenital hip dislocation, Dental crowding, Intes... OMIM:609029
Multiple Pterygium Syndrome, Lethal Type
Vertebral fusion, Abnormal cervical curvature, Flexion contracture, Cleft palate, Thin ribs, Amyo... OMIM:253290
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Arthrogryposis mu... OMIM:617143
Ck Syndrome
Dental crowding, Hyperlordosis, Kyphosis, High palate, Scoliosis, Abnormal digit morphology OMIM:300831
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Hallux valgus, Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Con... OMIM:130060
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Atypical Rett Syndrome
Involuntary movements, Tremor, Kyphosis, Small hand, Limb myoclonus, Gait ataxia, Short foot, Pil... ORPHA:3095
Achondrogenesis Type 1A
Multiple rib fractures, Micromelia, Short neck, Short thorax, Short foot, Aplasia/Hypoplasia of t... ORPHA:93299
Emanuel Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Sacral dimple, Multiple joint contra... ORPHA:96170
Spondylocostal Dysostosis 2, Autosomal Recessive
Recurrent respiratory infections, Short neck, Vertebral clefting, Rib fusion, Hemivertebrae, Vert... OMIM:608681
Autosomal Recessive Kenny-Caffey Syndrome
Stenosis of the medullary cavity of the long bones, Carious teeth, Thin clavicles, Small hand, Th... ORPHA:93324
Isolated Anencephaly
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:563609
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Hypotriglyceridemia, Short phalanx o... ORPHA:85167
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Abnormal sens... ORPHA:88628
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Cervical cord compression, Hypoplastic cervical vertebrae, Vertebral hypoplasi... ORPHA:79345
Trisomy 1Q
Toe syndactyly, Arachnodactyly, Camptodactyly of finger, Congenital diaphragmatic hernia, Preaxia... ORPHA:261344
Spondyloepiphyseal Dysplasia Congenita
Barrel-shaped chest, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the ... OMIM:183900
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Increased circulating ferritin concentration, Ragged-red muscle ... OMIM:600462
Camurati-Engelmann Disease
Skeletal muscle atrophy, Abnormal tibia morphology, Abnormal femur morphology, Cortical thickenin... ORPHA:1328
Acromesomelic Dysplasia 4
Thoracic scoliosis, Short metatarsal, Short phalanx of finger, Genu varum, Short metacarpal, Radi... OMIM:619636
Growth Delay-Hydrocephaly-Lung Hypoplasia Syndrome
Bowing of the long bones, Radial bowing, Abnormally ossified vertebrae, Intestinal malrotation, A... ORPHA:3035
Focal Dermal Hypoplasia
Congenital diaphragmatic hernia, Finger syndactyly, Abnormal dental morphology, Abnormal dental e... ORPHA:2092
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Optic nerve hypoplasia, Flexion contracture, Abnormal pyramidal sign, Thin ribs, Narrow mouth, Sp... OMIM:614833
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Missing ribs, Short neck, Hemivertebrae, Pectus carinatum, Poste... OMIM:122600
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Bowed humerus, Congenital diaphragmatic hernia, Absent thumb, Elbow flexion... OMIM:618022
Smith-Lemli-Opitz Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Abnormal lung lobation,... ORPHA:818
Autosomal Recessive Multiple Pterygium Syndrome
Finger syndactyly, Skeletal muscle atrophy, Camptodactyly of finger, Pectus excavatum, Aplasia/Hy... ORPHA:2990
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Hypoplastic pubic ramus, Proximal placement of thumb, Short neck, Short metatarsal, Patellar hypo... OMIM:609945
Plaa-Associated Neurodevelopmental Disorder
Hyperextensibility of the finger joints, Exaggerated startle response, Tented upper lip vermilion... ORPHA:521426
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Death in infancy, Arachnodactyly, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, ... OMIM:619036
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Cleft palate, Short philtrum, Scoliosis ORPHA:85317
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Kyphosis, Babinski sign, Narrow palate, Spasticity, Short upper lip, Thick verm... ORPHA:364028
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Right ventricular hypertrophy, Increased variability in muscle fiber diameter, Type 1 muscle fibe... OMIM:612949
X-Linked Intellectual Disability, Cabezas Type
Toe syndactyly, Sandal gap, Down-sloping shoulders, Camptodactyly of finger, Short neck, Open bit... ORPHA:85293
Craniosynostosis, Herrmann-Opitz Type
Finger syndactyly, Micromelia, Split hand, Abnormal rib morphology, Cleft palate, Aplasia/Hypopla... ORPHA:2145
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Spondyloepimetaphyseal Dysplasia, X-Linked
Anterior wedging of T12, Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broa... OMIM:300106
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Abnormal ci... ORPHA:206572
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Brachyolmia Type 3
Barrel-shaped chest, Short neck, Spinal cord compression, Kyphosis, Proximal femoral metaphyseal ... OMIM:113500
Aspergillosis
Pneumonia, Ground-glass opacification, Hypersensitivity pneumonitis, Abnormal rib morphology, Bro... ORPHA:1163
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Tented upper lip vermilion, Short neck, Deep philtrum, Flexion contracture, Hemivertebrae, Tibial... ORPHA:96334
Opsismodysplasia
Short neck, Hypoplastic vertebral bodies, Narrow chest, Short palm, Short phalanx of finger, Shor... OMIM:258480
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Kyphosis, Postaxial hand polydactyly, Non-midline cleft lip, Cle... ORPHA:2075
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Cornelia De Lange Syndrome 1
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Sh... OMIM:122470
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c... OMIM:300863
Thanatophoric Dysplasia
Micromelia, Abnormal sacroiliac joint morphology, Kyphosis, Short thorax, Hip dysplasia, Platyspo... ORPHA:2655
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Optic atrophy, Bronchiectasis, Dysmetria, Knee flexion contrac... OMIM:619708
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly
Syndactyly, Thoracic hypoplasia, Micromelia, Postaxial polydactyly, Lateral clavicle hook, Hypopl... OMIM:617895
Thin Ribs-Tubular Bones-Dysmorphism Syndrome
Slender long bone, Abnormal pelvic girdle bone morphology, Abnormal rib morphology, Abnormal pala... ORPHA:1506
Tracheobronchopathia Osteochondroplastica
Recurrent respiratory infections, Pneumonia, Bronchitis, Atelectasis, Recurrent pneumonia, Esopha... ORPHA:3348
Thanatophoric Dysplasia Type 1
Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo... ORPHA:1860
Pseudohypoaldosteronism Type 2
Hyperkalemia, Abnormal dental enamel morphology, Periodic paralysis, Abnormality of the dentition ORPHA:757
Baralle-Macken Syndrome
High, narrow palate, Spasticity, Kyphosis, Tapered finger OMIM:619255
Myhre Syndrome
Brachydactyly, Narrow mouth, Submucous cleft hard palate, Abnormal rib morphology, Gingival cleft... ORPHA:2588
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Abnormality of the dentition, Atelec... ORPHA:2314
Primary Ciliary Dyskinesia
Recurrent sinopulmonary infections, Intestinal malrotation, Pulmonary situs ambiguus, Peribroncho... ORPHA:244
Spondylocarpotarsal Synostosis Syndrome
Short neck, Coxa vara, Pectus carinatum, Vertebral segmentation defect, Clinodactyly of the 5th f... OMIM:272460
Osteogenesis Imperfecta, Type Xvii
Decreased muscle mass, Bowed humerus, Kyphoscoliosis, Dentinogenesis imperfecta, Hip dislocation,... OMIM:616507
Autosomal Recessive Spastic Paraplegia Type 75
Distal lower limb amyotrophy, Titubation ORPHA:459056
Achondrogenesis, Type Ii
Barrel-shaped chest, Absent vertebral body mineralization, Broad long bones, Short tubular bones ... OMIM:200610
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Cleidocranial Dysplasia 1
Short middle phalanx of the 2nd finger, High, narrow palate, Coxa vara, High palate, Narrow chest... OMIM:119600
Sclerosteosis 1
Syndactyly, Papilledema, Facial palsy, Sclerotic scapulae, Broad clavicles, 2-3 finger syndactyly... OMIM:269500
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Tapered finger OMIM:618512
Schisis Association
Congenital diaphragmatic hernia, Micromelia, Spina bifida, Tracheoesophageal fistula, Cleft palat... ORPHA:63862
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Short neck, Flexion contracture, Tibial bowing, Irregular vertebral endplates, Shoulder dislocati... OMIM:143095
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Microphthalmia, Lenz Type
Delayed eruption of teeth, Abnormal clavicle morphology, Finger syndactyly, Abnormal dental morph... ORPHA:568
Osteogenesis Imperfecta
Abnormality of dental color, Cervical kyphosis, Micromelia, Abnormal tibia morphology, Flexion co... ORPHA:666
Eiken Syndrome
Delayed epiphyseal ossification, Eruption failure, Pseudoepiphyses, Oligodontia, Delayed tarsal o... OMIM:600002
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
10Q22.3Q23.3 Microduplication Syndrome
Abnormal clavicle morphology, Abnormality of the philtrum, Abnormal rib morphology, Abnormality o... ORPHA:276422
2Q31.1 Microdeletion Syndrome
Short neck, Abnormal tibia morphology, Deep philtrum, Downturned corners of mouth, Vertebral segm... ORPHA:251014
Halperin-Birk Syndrome
Congenital diaphragmatic hernia, Flexion contracture, Hip dislocation, Optic atrophy, Spastic tet... OMIM:618651
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thin upper lip vermilion, Macrodontia, Thoracolumbar scoliosis, Ataxia, Hyperlordosis, Kyphosis, ... OMIM:618443
Native American Myopathy
Skeletal muscle atrophy, Submucous cleft soft palate, Abnormality of skeletal muscle fiber size, ... ORPHA:168572
Mucopolysaccharidosis Type 3
Abnormal clavicle morphology, Flexion contracture, Abnormal pyramidal sign, Abnormal form of the ... ORPHA:581
Myasthenic Syndrome, Congenital, 19
Barrel-shaped chest, Facial palsy, Spinal rigidity, Pectus carinatum, High palate, Increased vari... OMIM:616720
Rhizomelic Dysplasia, Ain-Naz Type
Short humerus, Short femur, Rhizomelia, Hypoplasia of the femoral head, Wide distal femoral metap... OMIM:619598
3C Syndrome
Finger syndactyly, Death in infancy, Recurrent respiratory infections, Intestinal malrotation, Mi... ORPHA:7
Acrofacial Dysostosis 1, Nager Type
Aplasia/Hypoplasia of the thumb, Congenital diaphragmatic hernia, Hypoplasia of first ribs, Foot ... OMIM:154400
Craniorachischisis
Congenital diaphragmatic hernia, Cervical spina bifida, Sirenomelia, Spinal dysraphism, Bifid ste... ORPHA:63260
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad... OMIM:171480
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Hypocalcemia, Tented upper lip vermilion, Facial palsy OMIM:606407
Bruck Syndrome
Bowing of the long bones, Kyphosis, Platyspondyly, Talipes equinovarus, Scoliosis, Arthrogryposis... ORPHA:2771
Schinzel-Giedion Syndrome
Abnormal clavicle morphology, Short neck, Abnormality of the gingiva, Vocal cord paralysis, Tibia... ORPHA:798
Cerebrocostomandibular Syndrome
Congenital hip dislocation, Anteriorly placed anus, Glossoptosis, High palate, Clinodactyly of th... OMIM:117650
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Hypoplastic distal segments of scapulae, Pectus excavatum, Pierre-Robin sequence, Abnormal rib mo... OMIM:602196
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Recurrent respiratory infections, Sandal gap, Camptodactyly of finger, Fac... ORPHA:261349
Cole-Carpenter Syndrome
Delayed eruption of teeth, Crumpled long bones, Bowing of the long bones, Abnormal dental enamel ... ORPHA:2050
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Postaxial polydactyly, Kyphosis, Knee flexion contra... OMIM:603387
Mosaic Trisomy 8
Camptodactyly of finger, Short neck, Patellar aplasia, Abnormal rib morphology, Cleft palate, Nar... ORPHA:96061
Trisomy 20P
Short neck, Abnormal form of the vertebral bodies, Downturned corners of mouth, Vertebral segment... ORPHA:261318
Craniofrontonasal Syndrome
Toe syndactyly, Broad hallux, Down-sloping shoulders, Congenital diaphragmatic hernia, Cleft uppe... OMIM:304110
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Pentalogy Of Cantrell
Congenital diaphragmatic hernia, Abnormal tibia morphology, Split hand, Non-midline cleft lip, Or... ORPHA:1335
Cat-Eye Syndrome
Hip dysplasia, Abnormal rib morphology, Anal atresia ORPHA:195
Pericardial And Diaphragmatic Defect
Intestinal malrotation, Congenital diaphragmatic hernia, Pectus excavatum, Hypoxemia, Abnormal st... ORPHA:2847
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Hypercalcemia, Tapered finger, Pectus excavatum, Unilateral radial aplasia, Part... ORPHA:476126
Marfanoid Habitus-Autosomal Recessive Intellectual Disability Syndrome
Small hypothenar eminence, Arachnodactyly, Hypoplasia of the musculature, Thenar muscle atrophy, ... ORPHA:2463
Orofaciodigital Syndrome Type 3
Irregular dentition, Hamartoma of tongue, Abnormality of the dentition, Pectus excavatum, Postaxi... ORPHA:2752
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Anal stenosis, Neurogenic bladder, Abnormal odontoid process morphology, Block ... OMIM:613686
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Preaxial polydactyly, Lobulated tongue, Narrow greater sciatic notch, Narrow chest, Short tibia, ... OMIM:616300
Craniometadiaphyseal Dysplasia
Natal tooth, Broad long bones, Dental crowding, Coxa valga, Carious teeth, Wide anterior fontanel... OMIM:269300
Osteogenesis Imperfecta, Type Ii
Crumpled long bones, Broad long bones, Beaded ribs, Tibial bowing, Bell-shaped thorax, Thin ribs,... OMIM:166210
Microcephalic Primordial Dwarfism, Montreal Type
Open bite, Carious teeth, Kyphosis, Congenital pyloric atresia, Vertebral segmentation defect, Hy... ORPHA:2617
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Pectus excavatum, High, narro... ORPHA:1900
Anaplastic Thyroid Carcinoma
Neoplasm of the lung, Vocal cord paralysis, Tracheoesophageal fistula, Abnormal skeletal muscle m... ORPHA:142
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Hyperlordosis, Coxa vara, Genu valgum, Deviation of ... ORPHA:2831
Medium Chain 3-Ketoacyl-Coa Thiolase Deficiency
Neonatal death, Rhabdomyolysis OMIM:602199
Osteogenesis Imperfecta, Type Iii
Protrusio acetabuli, Kyphosis, Wide anterior fontanel, Tibial bowing, Thin ribs, Slender long bon... OMIM:259420
Fucosidosis
Decreased muscle mass, Abnormality of the dentition, Kyphosis, Abnormal pyramidal sign, Spastic t... ORPHA:349
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Atrophic muscularis propria, Ra... ORPHA:298
Difference Of Sex Development-Intellectual Disability Syndrome
Short neck, Kyphosis, Short thorax, Genu valgum, Downturned corners of mouth, Thin vermilion bord... ORPHA:2983
Antley-Bixler Syndrome
Arachnodactyly, Camptodactyly of finger, Abnormal rib morphology, Cleft palate, Femoral bowing, N... ORPHA:83
Sjögren-Larsson Syndrome
Abnormal dental enamel morphology, Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis... ORPHA:816
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Optic atrophy, Vocal cord paralysis, Increased cup-to-disc ratio, Myoclonus, ... ORPHA:500144
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Finger syndactyly, Skeletal muscle atrophy, Pectus excavatum, Kyphosis, Asymmetry of the thorax, ... ORPHA:1969
Campomelia, Cumming Type
Death in infancy, Bowing of the long bones, Abnormally ossified vertebrae, Micromelia, Abnormal t... ORPHA:1318
Fryns Syndrome
Tented upper lip vermilion, Median cleft lip, Aganglionic megacolon, Congenital diaphragmatic her... ORPHA:2059
Hurler Syndrome
Recurrent respiratory infections, Hypoplasia of the femoral head, Coxa valga, Short neck, Hypopla... OMIM:607014
Pycnodysostosis
Abnormal clavicle morphology, High palate, Narrow chest, Hypoplastic iliac wing, Rhizomelia, Pers... ORPHA:763
Campomelic Dysplasia
11 pairs of ribs, Poorly ossified cervical vertebrae, Bowing of the long bones, Small abnormally ... ORPHA:140
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hyponatremia, Abnormal autonomic nervous system physiology, Para... ORPHA:83601
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Microdeletion
Long toe, Overlapping toe, Exaggerated cupid's bow, Diastasis recti, Pectus excavatum, Flexion co... ORPHA:254528
19P13.12 Microdeletion Syndrome
Short palm, Finger syndactyly, Sandal gap, Short neck, Kyphosis, Hyperlipidemia, Cleft palate, Th... ORPHA:254346
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hyperkalemia, Hand tremor, Periodic paralysis OMIM:609153
Gitelman Syndrome
Ataxia, Paralysis, Rhabdomyolysis, Hypokalemia, Increased circulating renin level, Hypomagnesemia OMIM:263800
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, High, narrow palate, Clinodactyly, Pectus carinatum, Short philtrum, ... ORPHA:464738
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Short neck, Deep philtrum, Knee flexion contracture, Hypertonia, Microdontia, Prominent crus of h... OMIM:619194
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Aplastic clavicle, Micromelia, Postaxial polydactyly, Congenital diaphragmatic hernia, Accessory ... OMIM:616546
Cartilage-Hair Hypoplasia
Metaphyseal dysplasia, Anal stenosis, Lumbar hyperlordosis, Aganglionic megacolon, Flaring of low... OMIM:250250
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Arachnodactyly, Camptodactyly of finger, Carious teeth, Kyphosis, Joint contracture of the 5th fi... ORPHA:1883
Osteopathia Striata With Cranial Sclerosis
Dental crowding, Osteopathia striata, High palate, Clinodactyly of the 5th finger, Broad ribs, Sp... OMIM:300373
Duane-Radial Ray Syndrome
Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Spina bifida occulta, Upper limb... OMIM:607323
Monosomy 9P
Congenital diaphragmatic hernia, Proximal placement of thumb, Abnormality of the tarsal bones, Na... ORPHA:261112
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Tethered cord, Dental crowding, Neurogenic bladder, Shor... OMIM:130720
2Q37 Microdeletion Syndrome
Finger syndactyly, Short metacarpal, Toe syndactyly, Congenital diaphragmatic hernia, Short neck,... ORPHA:1001
Intellectual Disability-Strabismus Syndrome
Rocker bottom foot, Congenital diaphragmatic hernia, Abnormality of the dentition, Short neck, Ac... ORPHA:363528
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short neck, Delayed epiphyseal ossification, Long fibula, Narrow chest, Narrow greater sciatic no... OMIM:250220
Thanatophoric Dysplasia Type 2
Micromelia, Kyphosis, Short thorax, Aplasia/Hypoplasia of the lungs, Platyspondyly, Narrow chest,... ORPHA:93274
Rhizomelic Dysplasia, Patterson-Lowry Type
Short humerus, Short metacarpal, Rhizomelia, Short metatarsal, Coxa vara, Deformed humeral heads,... OMIM:601438
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Deposits immunoreactive... ORPHA:1020
Tetraamelia-Multiple Malformations Syndrome
Septo-optic dysplasia, Abnormally ossified vertebrae, Missing ribs, Abnormal rib morphology, Opti... ORPHA:3301
Mucopolysaccharidosis, Type Iiid
Epiphyseal dysplasia, Thoracic scoliosis, Thickened ribs, Pilonidal sinus, Short neck, Achilles t... OMIM:252940
8P23.1 Microdeletion Syndrome
Broad hallux phalanx, Proximal placement of thumb, Tapered finger, Congenital diaphragmatic herni... ORPHA:251071
Camptodactyly Syndrome, Guadalajara Type 3
Sternocleidomastoid amyotrophy, Short neck, Small hand, Abnormal rib morphology, Short foot, Spin... ORPHA:488434
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Hyperkalemia, Viral infection-induced rhabdomy... ORPHA:99845
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal rib morphology, Tracheoesophageal fistula, Abnor... ORPHA:93941
Osteogenesis Imperfecta, Type Xvi
Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomelia, Beaded ribs, Too... OMIM:616229
Shprintzen-Goldberg Craniosynostosis Syndrome
Arachnodactyly, Lateral clavicle hook, Pectus excavatum, Metaphyseal widening, Metatarsus adductu... OMIM:182212
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Lateral clavicle hook, Conjugated hyperbilirubinemia, Early ossification of capital femoral epiph... OMIM:208500
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Pectus excavatum, Kyphosis, Pectus carinatum, High palate, Narrow chest, Scoliosis OMIM:300676
Marshall-Smith Syndrome
Irregular dentition, Thoracic scoliosis, Large sternal ossification centers, Distal widening of m... OMIM:602535
Ichthyosis, Congenital, Autosomal Recessive 2
Short toe, Everted lower lip vermilion, Short finger, Paralysis OMIM:242100
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Shwachman-Diamond Syndrome 1
Myocardial necrosis, Anterior rib cupping, Ovoid vertebral bodies, Metaphyseal sclerosis, Enlarge... OMIM:260400
Tarp Syndrome
Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Hypoplasia of the radius, Optic atro... OMIM:311900
Cantú Syndrome
Finger syndactyly, Broad hallux phalanx, Ovoid vertebral bodies, Short hallux, Coxa valga, Short ... ORPHA:1517
Simpson-Golabi-Behmel Syndrome
Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, High, narrow palate, Ver... ORPHA:373
Septopreoptic Holoprosencephaly
Anteriorly placed anus, Abnormal rib morphology, Abnormal vertebral morphology ORPHA:280195
Pyknoachondrogenesis
Micromelia, Short iliac bones, Hypoplastic ischia, Short thorax, Abnormal iliac wing morphology, ... ORPHA:3003
Basal Cell Nevus Syndrome 1
Hemivertebrae, Abnormal sternum morphology, Vertebral fusion, Odontogenic keratocysts of the jaw,... OMIM:109400
Limb Body Wall Complex
Congenital diaphragmatic hernia, Cutaneous finger syndactyly, Aplasia of the proximal phalanges o... ORPHA:2369
Respiratory Distress Syndrome In Premature Infants
Atelectasis, Pulmonary edema OMIM:267450
Osteogenesis Imperfecta, Type Viii
Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Kyphosis, Wide anteri... OMIM:610915
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
U-Shaped upper lip vermilion, Kyphoscoliosis, Coxa valga, Tapered finger, Diastema, Protruding to... OMIM:301040
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Papilledema, Intestinal pseudo-obstruction, Short neck, Kyphosis, Flex... OMIM:309900
22Q11.2 Deletion Syndrome
Short neck, Abnormal lung lobation, Short philtrum, Hypocalcemia, Arachnodactyly, Abnormal dental... ORPHA:567
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Kyphosis, Optic atrophy, Dysmetria, Pectus carinatum, Choreoathe... OMIM:617988
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly
Lateral clavicle hook, Pectus carinatum, Thoracic dysplasia, Narrow chest, Hamartoma of tongue, P... OMIM:263520
Cohen Syndrome
Finger syndactyly, Arachnodactyly, Sandal gap, Aplasia/Hypoplasia of the tongue, Tapered finger, ... ORPHA:193
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Esophageal atresia, Posta... ORPHA:3380
Stickler Syndrome, Type I
Arachnodactyly, Pectus excavatum, Kyphosis, Irregular femoral epiphysis, Submucous cleft hard pal... OMIM:108300
Fetal Alcohol Syndrome
Thin upper lip vermilion, Congenital diaphragmatic hernia, Non-midline cleft lip, Cleft palate, V... ORPHA:1915
Kenny-Caffey Syndrome, Type 1
Long clavicles, Carious teeth, Thin clavicles, Hypomagnesemia, Small hand, Thin ribs, Short foot,... OMIM:244460
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development
Cleft palate, Thin ribs, Slender long bone, Arthrogryposis multiplex congenita, Brachydactyly OMIM:618265
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Methylmalonic acidemia, Short humerus, Skeletal muscle atrophy, Short femur, Recurrent respirator... ORPHA:17
Fetal Akinesia Deformation Sequence 1
Decreased muscle mass, Elbow contracture, Short neck, High, narrow palate, Congenital contracture... OMIM:208150
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies
Superior rib anomalies, Abnormality of the cervical spine OMIM:307500
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Ataxia, Hypercapnia, Tremor, Elevated circulating creatine kin... OMIM:164310
Multiple Endocrine Neoplasia, Type Iib
Colonic diverticula, Aganglionic megacolon, Hyperlordosis, Pectus excavatum, High, narrow palate,... OMIM:162300
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Delayed eruption of primary teeth, Kyphosis, Flexion contracture, ... ORPHA:90322
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Hallermann-Streiff Syndrome
Selective tooth agenesis, High, narrow palate, Metaphyseal widening, Choreoathetosis, High palate... OMIM:234100
Tarp Syndrome
Finger syndactyly, Cyanosis, Rocker bottom foot, Postaxial polydactyly, Pectus excavatum, Pierre-... ORPHA:2886
Alpha-Mannosidosis, Infantile Form
Optic disc pallor, Thickened ribs, Facial hypotonia, Ataxia, Pneumonia, Short neck, Pectus excava... ORPHA:309282
Thrombocytopenia-Absent Radius Syndrome
Lateral clavicle hook, Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th fing... OMIM:274000
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Short neck, Lateral clavicle hook, Preaxial polydactyly, Long thorax, Narrow greater sciatic notc... OMIM:617925
Mayer-Rokitansky-Küster-Hauser Syndrome Type 2
Vertebral segmentation defect, Abnormal rib morphology, Short neck ORPHA:2578
Congenital Disorder Of Glycosylation, Type Ig
Short humerus, Thin upper lip vermilion, Short femur, Rhizomelia, Sandal gap, Hypoplasia of the r... OMIM:607143
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Missing ribs, Carious teeth, Kyphosis, Abnormal rib morphology, Bifid femur, A... ORPHA:2769
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
High, narrow palate, Flexion contracture, Femoral bowing, Anteriorly placed anus, Narrow chest, A... ORPHA:95699
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia, Submucous cleft hard palate, Cleft palate, Thick vermilion borde... ORPHA:250999
X-Linked Hypophosphatemia
Shortening of the talar neck, Bowing of the long bones, Odontodysplasia, Bowing of the legs, Bead... ORPHA:89936
Robinow Syndrome, Autosomal Dominant 3
Short neck, Anteriorly placed anus, Downturned corners of mouth, Pulmonary artery atresia, Short ... OMIM:616894
Multiple Osteochondromas
Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor... ORPHA:321
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Familial Nasal Acilia
Atelectasis, Recurrent upper respiratory tract infections, Bronchiectasis ORPHA:922
Chand Syndrome
Short fifth metatarsal, Ataxia, Atelectasis, Cleft palate, Agenesis of permanent teeth, Abnormal ... ORPHA:1401
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea
Thin upper lip vermilion, Ground-glass opacification, Atelectasis, Bronchiectasis, Abnormal pulmo... OMIM:620233
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Rhabdomyosarcoma, Short neck, Pect... ORPHA:77301
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Thin upper lip vermilion, Intestinal malrotation, Postaxial polydactyly, Kyphosis, Deep philtrum,... ORPHA:404440
Fryns Syndrome
Tented upper lip vermilion, Proximal placement of thumb, Short neck, Prominent fingertip pads, Br... OMIM:229850
Occipital Horn Syndrome
Short humerus, Orthostatic hypotension, Decreased circulating ceruloplasmin concentration, Decrea... OMIM:304150
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Ataxia, Hyperammonemia, Short foot, Type 2 muscle fiber predominance, Ch... OMIM:615471
Codas Syndrome
Delayed eruption of teeth, Short humerus, Short metacarpal, Congenital hip dislocation, Metaphyse... OMIM:600373
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Short neck, Hemivertebrae, Pectus carinatum, Femoral bowing, Foot oligodactyly, High palate, Apla... OMIM:276820
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Elevated circulating creatine kinase concentration, Tremor, Ragged-red muscle fibers, Myo... OMIM:607426
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, High palate, Short palm, Short phalanx of finger, Wide ... OMIM:249420
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Abnormal morphology of the radius, Bowing of the long bones, Abnorm... ORPHA:249
Lymphangiectasia, Intestinal
Malabsorption, Stillbirth, Intestinal lymphangiectasia, Prominent floating ribs, Neonatal hypopro... OMIM:152800
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Death in infancy, Elevated circulating creatine kinase concentration, Cleft upper lip, Spinal rig... OMIM:613150
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Coxa valga, Short tubular bones of the hand, Wide anterior fontanel, Vertebral arch anomaly, Abno... ORPHA:85184
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Anal stenosis, Congenital diaphragmatic hernia, Tremor, Cleft palate, Spasticity, Choreoathetosis... OMIM:614080
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Hallux valgus, Papilledema, Paralysis, Pectus excavatum, Oculomotor apraxia, Spastic paraplegia, ... ORPHA:2072
Alagille Syndrome
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Abnormal rib morphology, Abnormal f... ORPHA:52
Gm1-Gangliosidosis, Type I
Death in infancy, Thickened ribs, Short neck, Kyphosis, Gingival overgrowth, Hypoplastic vertebra... OMIM:230500
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis, Bronchiectasis ORPHA:2375
Stickler Syndrome
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Pectus carinatum, Glossoptosis, A... ORPHA:828
Polymyositis
Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, Elevated circulating creatine kin... ORPHA:732
Mucolipidosis Iii Alpha/Beta
Soft tissue swelling of interphalangeal joints, Increased serum beta-hexosaminidase, Irregular ca... OMIM:252600
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Short neck, Short metatarsal, Femoral bowing, Tibi... OMIM:304120
Basel-Vanagaite-Smirin-Yosef Syndrome
Tented upper lip vermilion, Kyphosis, Recurrent pneumonia, 2-3 toe syndactyly, Cleft palate, Pect... OMIM:616449
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Abnormality of the alveolar ridges, Cleft upper lip, Capi... OMIM:225500
Kleefstra Syndrome 2
Kyphosis, Everted lower lip vermilion, Bifid uvula, Scoliosis OMIM:617768
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Arterial Tortuosity Syndrome
Arachnodactyly, Congenital diaphragmatic hernia, Hiatus hernia, Pectus excavatum, Pulmonary arter... OMIM:208050
Cebalid Syndrome
High palate, Congenital diaphragmatic hernia OMIM:618774
Neuromuscular Oculoauditory Syndrome
Elevated circulating creatine kinase concentration, Decreased nerve conduction velocity, Knee fle... OMIM:618733
Foodborne Botulism
Cerebral palsy, Xerostomia, Diaphragmatic paralysis, Paralysis ORPHA:228371
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Cleft upper lip, Pectus excavatum, Pyloric stenosis, Kyphosis, H... OMIM:610443
Coffin-Lowry Syndrome
Hyperextensibility of the finger joints, Rectal prolapse, Pectus carinatum, High palate, Widely s... OMIM:303600
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Hallux valgus, Thumb contracture, Duplication of distal phalanx of toe, Tapered finger, Duplicati... ORPHA:324540
X-Linked Intellectual Disability, Snyder Type
Long toe, Decreased muscle mass, Arachnodactyly, Dental crowding, Kyphoscoliosis, Involuntary mov... ORPHA:3063
Hurler-Scheie Syndrome
Recurrent respiratory infections, Camptodactyly of finger, Thenar muscle atrophy, Contracture of ... OMIM:607015
Myhre Syndrome
Short neck, Short philtrum, Hypoplastic iliac wing, Broad ribs, Vertebral fusion, Ataxia, Cleft l... OMIM:139210
Aicardi Syndrome
Intestinal polyposis, Block vertebrae, Missing ribs, Cleft upper lip, Hiatus hernia, Malabsorptio... ORPHA:50
Donnai-Barrow Syndrome
Wide anterior fontanel, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2143
Autosomal Dominant Progressive External Ophthalmoplegia
Elevated circulating creatine kinase concentration, Tremor, Quadriceps muscle weakness, Ragged-re... ORPHA:254892
Autosomal Dominant Popliteal Pterygium Syndrome
Finger syndactyly, Thin upper lip vermilion, Toe syndactyly, Lip pit, Non-midline cleft lip, Spli... ORPHA:1300
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Abnormal auditory evoked potentials, Asymmetry of t... ORPHA:401973
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Short neck, Cleft pala... OMIM:616364
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Distal Triplication 15Q
Arachnodactyly, Kyphosis, Flexion contracture, Abnormal sternum morphology, Syringomyelia, High p... ORPHA:314588
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Recurrent pneumonia, Elbow flexion contracture, Optic atrophy, Genu va... OMIM:618493
Omodysplasia 2
Short humerus, Tented upper lip vermilion, Bilateral cleft lip, Anterior wedging of T11, Fibular ... OMIM:164745
Radio-Renal Syndrome
Micromelia, Short neck, High, narrow palate, Hypoplasia of the radius, Abnormal rib morphology, A... ORPHA:3015
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Male Hypergonadotropic Hypogonadism-Intellectual Disability-Skeletal Anomalies Syndrome
Abnormal rib morphology, Hemivertebrae, Abnormal form of the vertebral bodies, Short neck ORPHA:2234
Aymé-Gripp Syndrome
Thin upper lip vermilion, Rocker bottom foot, Congenital diaphragmatic hernia, Tapered finger, Na... ORPHA:1272
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Dental crowding, Congenital diaphragmatic hernia, Downturned corners of mouth, Hypertonia, Short ... OMIM:301044
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Foxg1 Syndrome Due To 14Q12 Microdeletion
Tented upper lip vermilion, Kyphosis, Macroglossia, Everted lower lip vermilion, Scoliosis, Smoot... ORPHA:261144
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, High palate, Short philtrum, Proximal placement of thumb OMIM:615433
Prader-Willi Syndrome
Syndactyly, Decreased muscle mass, Thin upper lip vermilion, Recurrent respiratory infections, Ca... OMIM:176270
Shashi-Pena Syndrome
Thin upper lip vermilion, Short metacarpal, Kyphosis, Scoliosis, Cervical C2/C3 vertebral fusion,... OMIM:617190
Megalocornea-Intellectual Disability Syndrome
Ataxia, Tapered finger, Kyphosis, High palate, Short philtrum, Everted lower lip vermilion, Scoli... ORPHA:2479
Combined Oxidative Phosphorylation Deficiency 55
Skeletal muscle atrophy, Elevated circulating creatine kinase concentration, Hypophosphatemia, Ty... OMIM:619743
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hallux valgus, Everted upper lip vermilion, Sandal gap, Rocker bottom foot, Camptodactyly of fing... OMIM:619951
Donnai-Barrow Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Wide anterior fontanel, Short sternum, D... OMIM:222448
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Tibial bowing, Narrow chest, Cone-shaped epiphyses of t... OMIM:309350
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Tremor, Kyphosis, Death in adolesce... OMIM:615512
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia ORPHA:94080
Femur-Fibula-Ulna Complex
Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi... ORPHA:2019
Vici Syndrome
Recurrent respiratory infections, Everted upper lip vermilion, Median cleft lip, Elevated circula... OMIM:242840
Noonan Syndrome 14
Scapular winging, Short neck, Pectus excavatum, High, narrow palate, Kyphosis, Pectus carinatum, ... OMIM:619745
Kagami-Ogata Syndrome
Pursed lips, Diastasis recti, Kyphoscoliosis, Coxa valga, Short neck, Bell-shaped thorax, Broad p... ORPHA:254519
Mullerian Duct Aplasia, Unilateral Renal Agenesis, And Cervicothoracic Somite Anomalies
Cleft upper lip, Abnormal rib morphology, Cleft palate, Abnormality of the vertebral column, Spre... OMIM:601076
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormal rib morphology, Micromelia ORPHA:2772
Marden-Walker Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Arachnodactyly, C... ORPHA:2461
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Brachydactyly, Narrow philtrum, Tibial bowing, Thin ribs, Slender long... OMIM:601812
Subaortic Stenosis-Short Stature Syndrome
Short neck, Kyphosis, Scoliosis, Microdontia, Abnormal circulating lipid concentration, Synostosi... ORPHA:3191
Gracile Bone Dysplasia
Death in infancy, Flared metaphysis, Thin ribs, Slender long bone, Hypocalcemia, Ankyloglossia, B... OMIM:602361
Cutis Laxa, Autosomal Recessive, Type Ia
Recurrent respiratory infections, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavat... OMIM:219100
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Sacral dimple, Pulmonary cyst, Pectus excavatum, Kyphosis, Wide anterior fontanel OMIM:618272
Holoprosencephaly
Congenital diaphragmatic hernia, Short neck, Deep philtrum, Chorea, Abnormal form of the vertebra... ORPHA:2162
Marfanoid-Progeroid-Lipodystrophy Syndrome
Hyperextensibility of the finger joints, Scapular winging, Arachnodactyly, Pectus excavatum, Long... OMIM:616914
Pagod Syndrome
Abnormal clavicle morphology, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Op... ORPHA:991
Trisomy 9P
Sacral dimple, Dental crowding, Short neck, Kyphosis, Non-midline cleft lip, Impacted tooth, Down... ORPHA:236
Turnpenny-Fry Syndrome
Dental crowding, Pectus carinatum, Prominent interphalangeal joints, Downturned corners of mouth,... OMIM:618371
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Hypertriglyceridemia, Dental crowding, Kyphosis, Scoliosis, Narrow mouth, Joint contracture OMIM:615381
Xylt1-Cdg
Coxa valga, Flared metaphysis, Cleft palate, Short long bone, Thick vermilion border, Short femor... ORPHA:370930
Lenz-Majewski Hyperostotic Dwarfism
Syndactyly, Hyperextensibility of the finger joints, Broad clavicles, Aplasia/Hypoplasia of the m... OMIM:151050
Catel-Manzke Syndrome
Short neck, Pectus carinatum, Glossoptosis, High palate, Clinodactyly of the 5th finger, Bifid uv... OMIM:616145
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Micromelia, Short neck, Delayed epiphyseal ossification, Flexion contracture, Preaxial polydactyl... OMIM:210710
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperlordosis, Short toe, Kyphosis, Brachydactyly ORPHA:3085
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Scoliosis OMIM:300861
Kabuki Syndrome
Abnormal dental morphology, Congenital diaphragmatic hernia, Lip pit, Abnormality of the dentitio... ORPHA:2322
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Elevated circulating alpha-fetoprotein concentration, Babinski sign, Ragged... OMIM:614924
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Optic atrophy, Spastic para... ORPHA:171629
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Sacral dimple, Proximal placement of thumb, Absent radius, Esophageal atresia, Tra... OMIM:314390
Osteogenesis Imperfecta, Type Xviii
Bowing of the long bones, Abnormality of the dentition, Femoral bowing, Thin ribs, Biconcave vert... OMIM:617952
Focal Dermal Hypoplasia
Congenital hip dislocation, Congenital diaphragmatic hernia, Osteopathia striata, Short metatarsa... OMIM:305600
Paget Disease Of Bone 5, Juvenile-Onset
Barrel-shaped chest, Short humerus, Bowing of the long bones, Kyphosis, Hydroxyprolinemia, Latera... OMIM:239000
Cono-Spondylar Dysplasia
Epiphyseal dysplasia, Short humerus, Short neck, Kyphosis, Poor coordination, Cone-shaped epiphys... ORPHA:420794
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Brachydactyly, Overlapping toe, Postaxial polydactyly, Pectu... ORPHA:221120
Surfactant Metabolism Dysfunction, Pulmonary, 3
Death in infancy, Nonspecific interstitial pneumonia, Crazy paving pattern, Cyanosis, Nodular pat... OMIM:610921
Cerebrofaciothoracic Dysplasia
Cleft upper lip, Short neck, Rib fusion, Hemivertebrae, Cleft palate, Wide mouth, Vertebral segme... ORPHA:1394
Simpson-Golabi-Behmel Syndrome, Type 1
Congenital diaphragmatic hernia, Abnormal lung lobation, Pectus carinatum, Vertebral segmentation... OMIM:312870
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Arachnodactyly, Kyphosis, Hyperuricemia, Narrow mouth ORPHA:261222
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Glioblastoma
Paralysis ORPHA:360
Cole-Carpenter Syndrome 2
Pectus excavatum, Kyphosis, Thin ribs, Platyspondyly, High palate, Narrow iliac wing, Dentinogene... OMIM:616294
Serkal Syndrome
Malrotation of small bowel, Orofacial cleft, Pulmonary hypoplasia, Congenital diaphragmatic hernia ORPHA:139466
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... ORPHA:97349
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Recurrent respiratory infections, Pectus excavatum, Atelectasis, Tetraplegia, Myoclonus, Pulmonar... OMIM:618278
Whim Syndrome
Abnormal small intestine morphology, Severe periodontitis, Pneumonia, Respiratory tract infection... ORPHA:51636
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Hypokalemia, Periodic paralysis OMIM:613239
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Hyperextensibility of the finger joints, Short neck, Hemivertebrae, High palate, Narrow chest, In... OMIM:213980
Harrod Syndrome
Arachnodactyly, Kyphosis, Dental malocclusion, Abnormal shoulder morphology, Abnormal pelvic gird... ORPHA:2115
Zttk Syndrome
Unilateral lung agenesis, Abnormality of the dentition, Kyphosis, Flexion contracture, Rib fusion... OMIM:617140
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Congenital diaphragmatic hernia, High, narrow palate, Pyloric ... ORPHA:2409
Osteogenesis Imperfecta, Type Vii
Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M... OMIM:610682
Koolen-De Vries Syndrome
Vertebral fusion, Arachnodactyly, Abnormal dental enamel morphology, Abnormality of the dentition... ORPHA:96169
Laryngeal Abductor Paralysis
Cyanosis, Vocal cord paralysis, Talipes equinovarus OMIM:150260
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Death in infancy, Ataxia, Cyanosis, Optic neuropathy,... OMIM:252010
Mullegama-Klein-Martinez Syndrome
Thin upper lip vermilion, Facial palsy, Congenital diaphragmatic hernia, Cleft lip, Cleft palate,... OMIM:301022
Pallister-Hall Syndrome
Hemivertebrae, Abnormal lung lobation, Anteriorly placed anus, Neonatal death, Distal shortening ... OMIM:146510
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Rhizomelia, Kyphosis, Wide anterior fontanel, Tibial bowing, Femoral bowing... OMIM:616482
Iniencephaly
Rhizomelia, Rocker bottom foot, Congenital diaphragmatic hernia, Spina bifida, Hyperlordosis, Abs... ORPHA:63259
Wolf-Hirschhorn Syndrome
Decreased muscle mass, Orofacial cleft, Abnormal form of the vertebral bodies, Downturned corners... OMIM:194190
Srd5A3-Cdg
Ataxia, Kyphosis, Abnormal sacrum morphology, Optic atrophy, Oligodontia ORPHA:324737
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Conical tooth, Prominent interphalangeal joints, Gait ataxia, Sh... OMIM:135900
Ferguson-Bonni Neurodevelopmental Syndrome
Pectus excavatum, High palate, Congenital diaphragmatic hernia OMIM:619699
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Equinus calcaneus, Shoulder dislocation, High palate, Periodontitis, Prematur... ORPHA:536532
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Calcification of the auricular cartilage, Pectus excavatum, Kyphosis, Flexion co... ORPHA:3042
Spondyloenchondrodysplasia
Delayed eruption of teeth, Metaphyseal dysplasia, Pneumonia, Bowing of the legs, Hypoplastic ilia... ORPHA:1855
Hereditary Acrokeratotic Poikiloderma
Finger syndactyly, Camptodactyly of finger, Premature loss of primary teeth, Abnormality of the d... ORPHA:2907
Pelizaeus-Merzbacher Disease
Recurrent respiratory infections, Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Sp... ORPHA:702
Spondylometaphyseal Dysplasia, Sedaghatian Type
Short metacarpal, Abnormal scapula morphology, Iliac crest serration, Metaphyseal chondrodysplasi... ORPHA:93317
Kbg Syndrome
Syndactyly, Vertebral fusion, Tented upper lip vermilion, Macrodontia, Short neck, Rib fusion, Ve... OMIM:148050
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:170500
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Ulbright-Hodes Syndrome
Short neck, Ovoid thoracolumbar vertebrae, High palate, Phocomelia, Short metacarpal, Humeroradia... ORPHA:3404
Myotonic Dystrophy 2
Weakness of facial musculature, Type 2 muscle fiber atrophy, Generalized amyotrophy, Sternocleido... OMIM:602668
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Short humerus, Trident pelvis, Bowed humerus, Short lingual frenulum, Flexion contracture, Short ... OMIM:619479
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Thin upper lip vermilion, Short fourth metatarsal, Overlapping toe, Kyphosis, Bilateral camptodac... OMIM:619557
Schinzel-Giedion Midface Retraction Syndrome
Sacrococcygeal teratoma, Long clavicles, Increased density of long bones, Short neck, Wide distal... OMIM:269150
Rift Valley Fever
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Gingival bleeding, Decerebrate rigidity ORPHA:319251
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis, Hyperkalemia OMIM:145260
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Sacral dimple, Short lingual frenulum, Congenital diaphragmatic hernia,... ORPHA:96121
Kagami-Ogata Syndrome Due To Maternal 14Q32.2 Hypermethylation
Coat hanger sign of ribs, Diastasis recti, Thoracic hypoplasia ORPHA:254534
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Glossopharyngeal Neuralgia
Cranial nerve compression, Vocal cord paralysis, Abnormal glossopharyngeal nerve morphology, Tong... ORPHA:221098
Chromosome 15Q25 Deletion Syndrome
Tented upper lip vermilion, Congenital diaphragmatic hernia, Cleft upper lip, Pectus excavatum, L... OMIM:614294
Lujo Hemorrhagic Fever
Resting tremor, Atelectasis, Elevated circulating C-reactive protein concentration ORPHA:319213
Weill-Marchesani Syndrome 2
Short metacarpal, Lumbar hyperlordosis, Short metatarsal, Elbow flexion contracture, Narrow palat... OMIM:608328
Mucopolysaccharidosis, Type Iiic
Thickened ribs, Kyphoscoliosis, Recurrent upper respiratory tract infections, Ovoid thoracolumbar... OMIM:252930
Inhalational Botulism
Xerostomia, Paralysis ORPHA:254504
Unilateral Polymicrogyria
Cyanosis, Involuntary movements, Pulmonary arteriovenous malformation, Spastic tetraplegia, Hemip... ORPHA:268943
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Bowing of the long bones, Premature ... ORPHA:667
Robinow Syndrome
Dental crowding, Hemivertebrae, Orofacial cleft, Fused thoracic vertebrae, Syndactyly, Persistenc... ORPHA:97360
White-Sutton Syndrome
Thin upper lip vermilion, Incoordination, Facial hypotonia, Congenital diaphragmatic hernia, Shor... ORPHA:468678
Osteogenesis Imperfecta, Type Xv
Platyspondyly, Scoliosis, Thin ribs OMIM:615220
Lenz-Majewski Hyperostotic Dwarfism
Finger syndactyly, Abnormal dental enamel morphology, Aplastic clavicle, Facial palsy, Abnormal m... ORPHA:2658
Femoral-Facial Syndrome
Short fourth metatarsal, Hemivertebrae, Dysplastic sacrum, Humeroradial synostosis, Rib fusion, A... OMIM:134780
Developmental Delay With Or Without Dysmorphic Facies And Autism
Thin upper lip vermilion, Congenital diaphragmatic hernia, Cleft lip, 2-3 toe cutaneous syndactyl... OMIM:618454
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers, Allodynia OMIM:603041
Congenital Disorder Of Glycosylation, Type Il
Short neck, Kyphosis, Hip dislocation, Wide mouth, Long philtrum OMIM:608776
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Zygomycosis
Gastritis, Atelectasis, Pneumothorax, Enterocolitis, Pulmonary infiltrates, Acute infectious pneu... ORPHA:73263
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Diamond-Blackfan Anemia 10
Cleft palate, Supernumerary ribs, Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
C Syndrome
Death in infancy, Sacral dimple, Toe syndactyly, Micromelia, Congenital diaphragmatic hernia, Pec... ORPHA:1308
Ciliary Dyskinesia, Primary, 1
Pneumonia, Atelectasis, Bronchiectasis, Recurrent bronchitis OMIM:244400
Neutral Lipid Storage Myopathy
Hypertriglyceridemia, Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized lim... ORPHA:98908
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Thin upper lip vermilion, Sacral dimple, Ataxia, Short neck, Pectus excavatum, High, narrow palat... OMIM:300966
Mandibuloacral Dysplasia Progeroid Syndrome
Hypertriglyceridemia, Sandal gap, Elevated hemoglobin A1c, Decreased fibular diameter, Pectus exc... OMIM:619127
Cranioectodermal Dysplasia 1
High, narrow palate, High palate, Narrow chest, Widely spaced teeth, Hypocalcemia, Microdontia, A... OMIM:218330
Lateral Meningocele Syndrome
Dental crowding, Short neck, Pectus excavatum, High, narrow palate, Hyperlordosis, Kyphosis, Abno... ORPHA:2789
Thakker-Donnai Syndrome
Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Tracheoesophageal fistula, Downturned... ORPHA:1780
Marfan Syndrome
Pulmonary artery dilatation, Skeletal muscle atrophy, Arachnodactyly, Protrusio acetabuli, Dental... ORPHA:558
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Flexi... OMIM:255995
Cerebrocostomandibular Syndrome
Death in infancy, Spina bifida, Kyphosis, Posterior rib gap, Cleft palate, Bell-shaped thorax, Gl... ORPHA:1393
Alg1-Cdg
Kyphosis, Protein-losing enteropathy, Hypoalbuminemia, Scoliosis ORPHA:79327
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Finger syndactyly, Abnormal dental enamel morphology, Kyphosis, Hip dislocation, Vertebral segmen... ORPHA:1005
Congenital Disorder Of Glycosylation, Type Ia
Thin upper lip vermilion, Villous atrophy, Death in infancy, Ataxia, Tremor, Kyphosis, Flexion co... OMIM:212065
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Hypokalemia, Biconcave vertebral bodies, Vertebral compression... OMIM:219090
Renal Tubular Acidosis Iii
Hypokalemia, Periodic paralysis OMIM:267200
Porphyria, Acute Intermittent
Paralytic ileus, Respiratory paralysis, Paralysis OMIM:176000
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Cleft palate, Bifid uvula, Congenital diaphragmatic hernia OMIM:606164
Singleton-Merten Syndrome 1
Hypoplastic distal radial epiphyses, Eruption failure, Muscle fiber atrophy, Expanded metacarpals... OMIM:182250
Wiedemann-Rautenstrauch Syndrome
Short neck, Flexion contracture, Downturned corners of mouth, Hypertonia, Narrow chest, Generaliz... OMIM:264090
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia ORPHA:95706
16Q24.3 Microdeletion Syndrome
Optic nerve hypoplasia, Proximal placement of thumb, Kyphosis, Wide mouth, Hip dysplasia, High pa... ORPHA:261250
Occipital Horn Syndrome
High, narrow palate, Coxa vara, Pectus carinatum, Humerus varus, Narrow chest, Short palm, Large ... ORPHA:198
Marfanoid Habitus With Situs Inversus
Hyperextensibility of the finger joints, Arachnodactyly, Kyphosis, Pectus carinatum, Scoliosis OMIM:609008
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Abnormal dental morpholog... ORPHA:2878
Cowden Syndrome 5
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... OMIM:615108
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Abnormal cartilage morphology, Tetraplegia, Hemiparesis, Hypertonia, Hemiple... ORPHA:2396
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Hypermagnesemia, Hypokalemia, Hypocalcemia, Hypomagnesemia ORPHA:358
Progressive Non-Infectious Anterior Vertebral Fusion
Proximal radio-ulnar synostosis, Abnormal intervertebral disk morphology, Spinal rigidity, Kyphos... ORPHA:2062
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Hallux valgus, Speech apraxia, Dental crowding, Ataxia, Kyphoscoliosis, Tremor, High, narrow pala... OMIM:300967
Digeorge Syndrome
Pilonidal sinus, High, narrow palate, Atelectasis, Recurrent pneumonia, Cleft palate, Hemiparesis... OMIM:188400
Atelosteogenesis Type Iii
Absent humerus, Abnormal cervical curvature, Epiphyseal stippling of the humerus, Short tubular b... ORPHA:56305
Aicardi Syndrome
Block vertebrae, Proximal placement of thumb, Missing ribs, Cleft upper lip, Hiatus hernia, Spina... OMIM:304050
Cranioectodermal Dysplasia 2
Short neck, Fused teeth, High palate, Narrow chest, Widely spaced teeth, Microdontia, Syndactyly,... OMIM:613610
Craniotubular Dysplasia, Ikegawa Type
Metaphyseal dysplasia, Thick upper lip vermilion, Optic neuropathy, Increased intervertebral spac... OMIM:619727
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal clavicle morphology, Abnormal dental morphology, Abnormal dental enamel morphology, Tars... ORPHA:85199
Cog1-Cdg
Thin upper lip vermilion, Irregularity of vertebral bodies, Rhizomelia, Kyphoscoliosis, Coxa valg... ORPHA:263508
Lymphangioleiomyomatosis
Recurrent respiratory infections, Atelectasis, Pneumothorax, Optic atrophy, Pulmonary infiltrates... ORPHA:538
Mucopolysaccharidosis, Type Iiia
Recurrent upper respiratory tract infections, Thickened ribs, Ovoid thoracolumbar vertebrae, Scol... OMIM:252900
Baller-Gerold Syndrome
Patellar hypoplasia, Anteriorly placed anus, High palate, Spina bifida occulta, Abnormal vertebra... OMIM:218600
Distal Deletion 15Q
Thin upper lip vermilion, Congenital diaphragmatic hernia, Abnormality of the dentition, 2-3 toe ... ORPHA:1596
Kindler Epidermolysis Bullosa
Finger syndactyly, Camptodactyly of finger, Abnormal dental enamel morphology, Premature loss of ... ORPHA:2908
Cowden Syndrome 6
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... OMIM:615109
Van Esch-O'Driscoll Syndrome
Sacral dimple, Esophageal atresia, Pulmonary artery stenosis, Unilateral vocal cord paralysis, Tr... OMIM:301030
Esophageal Atresia
Vocal cord paresis, Recurrent respiratory infections, Barrett esophagus, Cyanosis, Intestinal mal... ORPHA:1199
Hajdu-Cheney Syndrome
Short neck, Pectus carinatum, Downturned corners of mouth, Periodontitis, Partial absence of toe,... ORPHA:955
Classic Homocystinuria
Arachnodactyly, Dental crowding, Pectus excavatum, Kyphosis, Hemiplegia/hemiparesis, Esophageal v... ORPHA:394
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis OMIM:219080
Nestor-Guillermo Progeria Syndrome
Dental crowding, Flexion contracture, Dental malocclusion, Thin ribs, Rib osteolysis, Progressive... OMIM:614008
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Chorea, Ragged-red muscle fibers, Optic atrophy, Low plasma citrulline, Gait ataxia, Hype... ORPHA:255210
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Narrow palate, Scoliosis, Broad phalanges of the han... OMIM:277600
Seckel Syndrome 9
Recurrent respiratory infections, Pulmonary artery hypoplasia, Talipes equinovarus, Congenital di... OMIM:616777
Cardiospondylocarpofacial Syndrome
Tarsal synostosis, Congenital diaphragmatic hernia, Rib fusion, Cone-shaped epiphysis, Short foot... OMIM:157800
Mycophenolate Mofetil Embryopathy
Congenital diaphragmatic hernia, Tracheoesophageal fistula, Orofacial cleft, Bifid thoracic verte... ORPHA:268249
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies
Vertebral fusion, Block vertebrae, Missing ribs, Short neck, Rib fusion, Hemivertebrae, Thin ribs... OMIM:271520
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Spinal cord com... ORPHA:217085
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia, Cleft lip, Pulmonary artery stenosis, Cleft palate, Bilateral lu... OMIM:611812
Microcephaly-Seizures-Intellectual Disability-Heart Disease Syndrome
Postaxial hand polydactyly, Abnormal rib morphology, Abnormal sternum morphology, Short ribs, Bro... ORPHA:2519
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Small hand, Short foot, Hip dysplasia, Scoliosis ORPHA:500055
Cardiofacioneurodevelopmental Syndrome
Cleft lip, Kyphosis, Cleft palate, Camptodactyly, Clinodactyly of the 5th finger, Brachydactyly OMIM:619123
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Thickened ribs, Abnormal dental morphology, Camptodactyly of finger, Spinal cord com... ORPHA:217093
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachn... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Calcaneovalgus deformity, Pectus carinatum, Prominent fingertip pads, Arachn... ORPHA:363958
Choreoacanthocytosis
Resting tremor, Self-mutilation of tongue and lips due to involuntary movements, Poor motor coord... ORPHA:2388
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Ear-Patella-Short Stature Syndrome
Camptodactyly of finger, Aplastic clavicle, High, narrow palate, Patellar aplasia, Abnormal rib m... ORPHA:2554
Cockayne Syndrome
Skeletal muscle atrophy, Congenital contracture, Progressive gait ataxia, Hypertonia, Intention t... ORPHA:191
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Ataxia, Congenital diaphragmatic hernia OMIM:615919
Mucolipidosis Type Ii
Hip contracture, Recurrent respiratory infections, Diastasis recti, Kyphosis, Hip dislocation, Gi... ORPHA:576
Matthew-Wood Syndrome
Intrauterine growth retardation, Congenital diaphragmatic hernia ORPHA:2470
1P36 Deletion Syndrome
11 pairs of ribs, Camptodactyly of finger, Pyloric stenosis, Kyphosis, Hemiplegia/hemiparesis, Ri... ORPHA:1606
Microphthalmia, Syndromic 9
Congenital diaphragmatic hernia, Agenesis of pulmonary vessels, Alveolar capillary dysplasia, Bil... OMIM:601186
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypertonia, Myoclonus, Scoliosis, Tetraparesis OMIM:203700
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Tapered finger, Hyperlordosis, Cleft lip, Hip dislocation, Cleft palate, Genu valgum, Hip dysplas... OMIM:301066
15Q14 Microdeletion Syndrome
Abnormality of the dentition, Kyphosis, Cleft palate, Short philtrum, Scoliosis, Long philtrum, S... ORPHA:261190
Chronic Recurrent Multifocal Osteomyelitis 2, With Periostitis And Pustulosis
Elevated circulating C-reactive protein concentration, Fused cervical vertebrae, Pulmonary fibros... OMIM:612852
Acro-Renal-Ocular Syndrome
Hypoplasia of the ulna, Finger syndactyly, Broad hallux phalanx, Toe syndactyly, Abnormal morphol... ORPHA:959
Al-Gazali Syndrome
Proximal radio-ulnar synostosis, Bowed humerus, Recurrent pneumonia, Bilateral talipes equinovaru... OMIM:609465
Mosaic Trisomy 20
Vertebral fusion, Down-sloping shoulders, Cleft lip, Abnormal spinal cord morphology, Kyphosis, S... ORPHA:1724
Hyperparathyroidism, Transient Neonatal
Short femur, Metaphyseal spurs, Undulate ribs, Thin ribs, Femoral bowing, Short long bone, Short ... OMIM:618188
Cornelia De Lange Syndrome
Micromelia, Proximal placement of thumb, Congenital diaphragmatic hernia, Short neck, Downturned ... ORPHA:199
Magel2-Related Prader-Willi-Like Syndrome
Thin upper lip vermilion, Recurrent respiratory infections, Kyphosis, Flexion contracture, Xerost... ORPHA:398069
Dyrk1A-Related Intellectual Disability Syndrome
Hallux valgus, Optic disc pallor, Toe syndactyly, Arachnodactyly, Multiple joint contractures, Pe... ORPHA:464306
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression, Dental malocclusion, Diaphyseal sclerosis OMIM:259730
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe
Bifid sternum, Supraumbilical raphe OMIM:140850
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Cleft lip, Kyphosis, Hemivertebrae, Narrow palate, Cleft palate, Contracture of the p... OMIM:618223
Microphthalmia, Syndromic 3
Optic nerve aplasia, Vertebral fusion, Optic nerve hypoplasia, Missing ribs, Esophageal atresia, ... OMIM:206900
Cdags Syndrome
Rectourethral fistula, Kyphosis, Cleft palate, Rectovaginal fistula, Short ribs, Short clavicles,... OMIM:603116
Oligomeganephronia
Pulmonary venous occlusion, Congenital diaphragmatic hernia, Optic disc coloboma, Elevated circul... ORPHA:2260
Mucopolysaccharidosis, Type Iiib
Thickened ribs, Ovoid thoracolumbar vertebrae, Recurrent upper respiratory tract infections OMIM:252920
Cowden Syndrome 1
Colonic diverticula, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, High p... OMIM:158350
Melas
Abnormal central motor function, Intestinal pseudo-obstruction, Ataxia, Ragged-red muscle fibers,... ORPHA:550
Primrose Syndrome
Skeletal muscle atrophy, Flexion contracture, Knee flexion contracture, Downturned corners of mou... OMIM:259050
Degcags Syndrome
Vocal cord paralysis, High palate, Diaphragmatic eventration, Syndactyly, Hiatus hernia, Short th... OMIM:619488
Cowden Syndrome
Ataxia, Pectus excavatum, Kyphosis, Furrowed tongue, Hamartomatous polyposis, Macroglossia, High ... ORPHA:201
Opitz Gbbb Syndrome
Natal tooth, Congenital diaphragmatic hernia, Cleft lip, Tracheoesophageal fistula, Cleft palate,... ORPHA:2745
Intellectual Developmental Disorder, Autosomal Dominant 57
Thin upper lip vermilion, Kyphosis, Contracture of the proximal interphalangeal joint of the 4th ... OMIM:618050
Williams Syndrome
Elevated circulating creatine kinase concentration, Tremor, Rectal prolapse, Abnormal form of the... ORPHA:904
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Arachnodactyly, Kyphoscoliosis, Kyphosis, Gait ataxia, As... ORPHA:457359
Micro Syndrome
Kyphosis, Optic atrophy, High palate, Short philtrum, Scoliosis, Spasticity ORPHA:2510
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia ORPHA:276621
Hydrolethalus Syndrome 1
Median cleft lip, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of phalanx o... OMIM:236680
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Clonus, High, narrow palate, Abnormal curvature of the vertebral column, Hypertonia, S... OMIM:619475
Osteopetrosis, Autosomal Recessive 7
Multiple rib fractures, Death in infancy, Femur fracture, Recurrent pneumonia, Optic atrophy, Dea... OMIM:612301
Vater/Vacterl Association
Syndactyly, Tethered cord, Spina bifida, Absent radius, Short thumb, Esophageal atresia, Hypoplas... OMIM:192350
Dextrocardia
Congenital hip dislocation, Intestinal malrotation, Abnormal lung lobation, Abnormal rib morpholo... ORPHA:1666
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ankle flexion contracture, Tapered finger, Pectus excavatum, Kyphosis, Short t... ORPHA:464311
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Absence of the sacrum, Tethered cord, Submucous cleft hard palate, Spinal dysraphism, Unilateral ... OMIM:617660
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Sacral dimple, Tapered toe, Tapered finger, Celiac disease, Rib fusion, Clinodactyly of the 5th f... ORPHA:544488
Wrinkly Skin Syndrome
Delayed eruption of teeth, Scapular winging, Congenital hip dislocation, Hypoplasia of the muscul... OMIM:278250
Charge Syndrome
Delayed eruption of teeth, Facial palsy, Cleft upper lip, Abnormal soft palate morphology, Abnorm... ORPHA:138
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hallux valgus, Hyperextensibility of the finger joints, Hyperlordosis, Kyphosis, Hip dislocation,... OMIM:617821
Rett Syndrome, Congenital Variant
Thin upper lip vermilion, Kyphosis, Chorea, Athetosis, Talipes equinovarus, Scoliosis, Apraxia, S... OMIM:613454
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia OMIM:194080
Pallister-Killian Syndrome
Congenital hip dislocation, Tented upper lip vermilion, Congenital diaphragmatic hernia, Short ne... OMIM:601803
Cockayne Syndrome A
Hip contracture, Ataxia, Delayed eruption of primary teeth, Abnormal auditory evoked potentials, ... OMIM:216400
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Pectus excavatum, Kyphosis, High palate, Short philtrum, Radial deviation of finger, Clinodactyly OMIM:609944
Cutis Laxa, Autosomal Recessive, Type Ib
Pulmonary artery dilatation, Arachnodactyly, Congenital diaphragmatic hernia, Pectus excavatum, H... OMIM:614437
Relapsing Polychondritis
Chondritis of pinna, Atelectasis, Anteriorly placed anus, Recurrent aphthous stomatitis, Chondritis ORPHA:728
Wiedemann-Rautenstrauch Syndrome
Tremor, Downturned corners of mouth, Hypoplastic vertebral bodies, Hypertonia, Short philtrum, Pr... ORPHA:3455
Ulnar-Mammary Syndrome
Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th... OMIM:181450
Thoracic Outlet Syndrome
Abnormal rib morphology ORPHA:97330
Acheiropodia
Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e... ORPHA:931
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Thin upper lip vermilion, Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy,... ORPHA:2232
Alkaptonuria
Low back pain, Vertebral fusion, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Acheiropody
Carpal bone aplasia, Short humerus, Aplasia of the phalanges of the hand, Aplasia of the ulna, Ab... OMIM:200500
Acromegaly
Cerebral palsy, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyphosis, Thick lower... ORPHA:963
Williams-Beuren Syndrome
Rectal prolapse, Flexion contracture, Vocal cord paralysis, Clinodactyly of the 5th finger, Micro... OMIM:194050
Alstrom Syndrome
Decreased HDL cholesterol concentration, Hypertriglyceridemia, Abnormality of the dentition, Kyph... OMIM:203800
Granulomatous Disease, Chronic, X-Linked
Atelectasis, Recurrent pneumonia, Air bronchogram, Rectal abscess, Pleural effusion OMIM:306400
Somatomammotropinoma
Cerebral palsy, Macrodactyly, Tapered finger, Abnormality of the dentition, Kyphosis, Thick lower... ORPHA:314769
Atelis Syndrome 2
Sacral dimple, Diastema, Kyphosis, Thick lower lip vermilion, Dysmetria, Downturned corners of mo... OMIM:620185
X-Linked Myotubular Myopathy-Abnormal Genitalia Syndrome
High palate, Thin ribs ORPHA:456328
Witteveen-Kolk Syndrome
Proximal placement of thumb, Congenital diaphragmatic hernia, High, narrow palate, Clinodactyly, ... OMIM:613406
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Median cleft lip, Postaxial polydactyly, Accessory oral frenulum, Postaxial hand polydactyly, Sup... OMIM:617088
Chromosome 1P36 Deletion Syndrome, Distal
Abnormal lung lobation, Orofacial cleft, High palate, Clinodactyly of the 5th finger, Bifid uvula... OMIM:607872
Mgat2-Cdg
Dental crowding, Pectus excavatum, Kyphosis, Recurrent upper and lower respiratory tract infectio... ORPHA:79329
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Optic disc pallor, Neurogenic bladder, Carious teeth, Kyphosis, Flexion ... ORPHA:90324
Charge Syndrome
Hemivertebrae, Hand monodactyly, Hypocalcemia, Pulmonary artery atresia, Hypoplasia of the ulna, ... OMIM:214800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Dental crowding, Kyphoscoliosis,... OMIM:225400
Osteogenesis Imperfecta, Type Iv
Biconcave flattened vertebrae, Kyphosis, Scoliosis, Femoral bowing present at birth, straightenin... OMIM:166220
Pallister-Hall Syndrome
Hemivertebrae, Abnormal lung lobation, Bifid uvula, Mesoaxial polydactyly, Radial bowing, Accesso... ORPHA:672
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Thin upper lip vermilion, Tented upper lip vermilion, Kyphosis, High palate, Short philtrum, Long... OMIM:619244
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis, Hypercalcemia ORPHA:29072
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Distal ileal atresia, Congenital diaphra... OMIM:267000
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
Distal Renal Tubular Acidosis
Hypokalemia, Paralysis ORPHA:18
Aspartylglucosaminuria
Recurrent respiratory infections, Kyphosis, Thick lower lip vermilion, Spasticity, Wide mouth, Ma... OMIM:208400
Mend Syndrome
Sacral dimple, Overlapping toe, Broad hallux, Long fingers, Kyphosis, 2-3 toe syndactyly, Hyperto... OMIM:300960
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Hypertyrosinemia, Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Spasticity OMIM:124000
Cockayne Syndrome B
Ataxia, Delayed eruption of primary teeth, Abnormal auditory evoked potentials, Carious teeth, De... OMIM:133540
Proteus Syndrome
Decreased muscle mass, Abnormal finger morphology, Abnormal lung lobation, Abnormal form of the v... ORPHA:744
Feingold Syndrome 1
Jejunal atresia, Short thumb, Short toe, 4-5 toe syndactyly, Esophageal atresia, 2-3 toe syndacty... OMIM:164280
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Bilateral vocal cord paresis, Flexion contracture, High palate, Talipes equinovarus, Hand clenchi... OMIM:614653
Osteopetrosis With Renal Tubular Acidosis
Elevated circulating creatine kinase concentration, Persistence of primary teeth, Pectus excavatu... ORPHA:2785
Pseudoxanthoma Elasticum, Forme Fruste
High, narrow palate, Kyphosis, Abnormal sternum morphology, High palate, Scoliosis OMIM:177850
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Dental crowding, Delayed eruption of primary teeth, Vocal cord par... OMIM:617799
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Tented upper lip vermilion, Intestinal pseudo-obstruction, Hypercholeste... ORPHA:273
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Dental crowding, Kyphosis, Increased femoral anteversion, High palate, Thick vermilion border, Sc... OMIM:619005
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia, Cleft upper lip, Peripheral pulmonary vessel aplasia, Cleft pala... OMIM:273395
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Arachnodactyly, Optic nerve hypoplasia, Kyphoscoliosis, Absent thumb, Unila... ORPHA:500150
Thoracoabdominal Syndrome
Cleft palate, Pulmonary hypoplasia, Congenital diaphragmatic hernia, Cleft upper lip OMIM:313850
Tyrosinemia, Type I
Hypertyrosinemia, Elevated circulating alpha-fetoprotein concentration, Periodic paralysis, Paral... OMIM:276700
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Elevated circulating creatine kinase concentration, Elevated maternal se... OMIM:309000
Osteoporosis-Pseudoglioma Syndrome
Barrel-shaped chest, Kyphoscoliosis, Kyphosis, Metaphyseal widening, Tibial bowing, Platyspondyly... OMIM:259770
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Long clavicles, Overlapping toe, Arachnodactyly, Contracture of the distal interphalangeal joint ... ORPHA:83617
Diets-Jongmans Syndrome
Thin upper lip vermilion, Congenital diaphragmatic hernia, Wide mouth, Hip dysplasia, Duodenal at... OMIM:618846
Restrictive Dermopathy
Thoracic kyphoscoliosis, Aplasia/Hypoplasia of the clavicles, Multiple joint contractures, Natal ... ORPHA:1662
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Arachnodactyly, Hyperlordosis, Kyphosis, Gait ataxia, Large hands, High palate, Scoliosis OMIM:617011
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Pseudo-Torch Syndrome 2
Pleural effusion, Thin ribs OMIM:617397
Viss Syndrome
Chronic gastritis, High, narrow palate, Pectus carinatum, High palate, Broad uvula, Emphysema, Bi... OMIM:619472
Yunis-Varon Syndrome
Congenital hip dislocation, Anterior concavity of thoracic vertebrae, Short metatarsal, Short phi... OMIM:216340
Ciliary Dyskinesia, Primary, 20
Recurrent respiratory infections, Atelectasis, Pulmonary artery stenosis, Recurrent pneumonia, Br... OMIM:615067
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Hallux valgus, Sacral dimple, Ataxia, Cleft soft palate, Tapered finger, Pectus excavatum, Abnorm... ORPHA:268261
Turner Syndrome Due To Structural X Chromosome Anomalies
Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... ORPHA:99413
Mosaic Monosomy X
Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... ORPHA:99228
Monosomy X
Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... ORPHA:99226
Turner Syndrome
Short neck, High, narrow palate, Enlarged thorax, Inflammation of the large intestine, High palat... ORPHA:881
Meacham Syndrome
Congenital diaphragmatic hernia, Abnormal lung lobation, Anomalous pulmonary venous return, Aplas... ORPHA:3097
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Alagille Syndrome 1
Hypoplasia of the ulna, Peripheral pulmonary artery stenosis, Hypertriglyceridemia, Abnormal rib ... OMIM:118450
Heart Defects, Congenital, And Other Congenital Anomalies
Intestinal malrotation, Congenital diaphragmatic hernia, Pulmonary artery stenosis, Aplasia of th... OMIM:600001
Sotos Syndrome
Tremor, No permanent dentition, Flexion contracture, Abnormal vertebral morphology, 2-3 toe synda... ORPHA:821
Coccidioidomycosis
Pneumonia, Pulmonary infiltrates, Abnormal long bone morphology, Abnormality of the vertebral col... ORPHA:228123
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Igg4-Related Thyroid Disease
Sialadenitis, Vocal cord paralysis, Hypocalcemia ORPHA:64744
17Q11 Microdeletion Syndrome
Abnormal central motor function, Rhabdomyosarcoma, Bowing of the legs, Gastrointestinal stroma tu... ORPHA:97685
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Abnormal pulmonary interstitial morphology, Gingival bl... ORPHA:77259
Townes-Brocks Syndrome
Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Preaxial hand polydactyly, Partial d... ORPHA:857
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia, Cleft palate, Anteriorly placed anus, Colonic atresia, Anal atresia OMIM:309801
Chromosome Xq26.3 Duplication Syndrome
Kyphosis, Widely spaced teeth OMIM:300942
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Recurrent respiratory infections, Abnormal pelvis bone morphology, Aganglionic megacolon, Abnorma... ORPHA:2273
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Pulmonary artery stenosis, Cervical ribs, Intestinal malrotation, Congenital diaphragmatic hernia ORPHA:2255
Roberts-Sc Phocomelia Syndrome
Short neck, Tetraphocomelia, Knee flexion contracture, High palate, Phocomelia, Wrist flexion con... OMIM:268300
Beckwith-Wiedemann Syndrome
Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia, Elevated circulating alpha-fe... ORPHA:116
Tsh-Secreting Pituitary Adenoma
Tremor, Hypokalemia, Periodic hypokalemic paresis ORPHA:91347
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Thin upper lip vermilion, Deep philtrum, Congenital diaphragmatic hernia OMIM:617641
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Diastema, Agenesis of molar, Supernumerary tooth, Kyphosis, Scoliosis, Microdontia OMIM:619718
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis OMIM:610475
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Inflammation of the large intestine OMIM:106300
Cardiac-Urogenital Syndrome
Intestinal malrotation, Congenital diaphragmatic hernia, Partial anomalous pulmonary venous retur... OMIM:618280
Branchiooculofacial Syndrome
Facial palsy, Proximal placement of thumb, Cleft upper lip, Malrotation of colon, Short thumb, Pr... OMIM:113620
Neurofibromatosis Type 1
Ataxia, Kyphosis, Genu valgum, Slender long bone, Scoliosis, Abnormal hip bone morphology, Genu v... ORPHA:636
Lymphedema-Distichiasis Syndrome
Kyphosis, Chylothorax, Cleft palate, Cleft upper lip OMIM:153400
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Thin vermilion border, Narrow chest, Scoliosis, Anal atresia OMIM:182210
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Abnormal rectu... ORPHA:2556
Ramon Syndrome
Delayed eruption of teeth, Optic disc pallor, Kyphosis, Gingival fibromatosis, Narrow palate, Sco... OMIM:266270
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Aspiration pneumonia, Achalasia, Ineffective esophageal peristalsis OMIM:619482
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis OMIM:610489
Alström Syndrome
Optic disc pallor, Thoracic scoliosis, Abnormality of dental color, Ataxia, Incoordination, Hyper... ORPHA:64

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 Stac3

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 Stac3.

There are 5 publications which use IMPC produced mice or data.

Title Journal IMPC Allele PubMed ID
Stac proteins associate with the critical domain for excitation-contraction coupling in the II-III loop of CaV1.1. The Journal of general physiology (February 2018) Stac3tm1a(KOMP)Wtsi 29467163
Stac3 has a direct role in skeletal muscle-type excitation-contraction coupling that is disrupted by a myopathy-causing mutation. Proceedings of the National Academy of Sciences of the United States of America (September 2016) Stac3tm1a(KOMP)Wtsi PMC5047181
Defective excitation-contraction coupling is partially responsible for impaired contractility in hindlimb muscles of Stac3 knockout mice. Scientific reports (May 2016) Stac3tm1a(KOMP)Wtsi PMC4868984
Skeletal muscle-specific T-tubule protein STAC3 mediates voltage-induced Ca2+ release and contractility. Proceedings of the National Academy of Sciences of the United States of America (July 2013) Stac3tm1a(KOMP)Wtsi PMC3718085
Stac3 is a novel regulator of skeletal muscle development in mice. PloS one (April 2013) Stac3tm1a(KOMP)Wtsi PMC3633831

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
Stac3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Mice, Targeting vectors, ES Cells
Stac3tm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Stac3tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter