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Gene: Mbnl2 MGI:2145597

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
muscleblind like splicing factor 2
Synonyms:
1110002M11Rik

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 Mbnl2 mutations

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

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

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

The table below shows human diseases predicted to be associated to Mbnl2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Rippling Muscle Disease 1
Skeletal muscle hypertrophy, Percussion-induced rapid rolling muscle contractions, Muscle mounding OMIM:600332
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Myotonia, Flexion contracture, Proximal muscle weakness in lower limbs, ... OMIM:310440
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Myotonia Congenita, Autosomal Dominant
Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm... OMIM:160800
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Centrally nucleated ske... OMIM:619733
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal rigidit... OMIM:608423
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we... OMIM:616199
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dystroglycan, Ank... ORPHA:280333
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
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
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Paramyotonia Congenita Of Von Eulenburg
Handgrip myotonia, Myotonia of the upper limb, Myotonia, Facial muscle hypertrophy, Myotonia of t... ORPHA:684
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Scoliosis, Incr... OMIM:620246
Myotonia Congenita, Autosomal Recessive
Myotonia, Skeletal muscle hypertrophy, Percussion myotonia, Myotonia with warm-up phenomenon, Mus... OMIM:255700
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy, Myotonia OMIM:254950
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
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
Zebra Body Myopathy
Handgrip myotonia, Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-gi... ORPHA:97240
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Muscular Dystrophy, Barnes Type
Myopathy, Myotonia, Muscular dystrophy OMIM:158800
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu... OMIM:601846
Rippling Muscle Disease 2
Skeletal muscle hypertrophy, Calf muscle hypertrophy, Percussion-induced rapid rolling muscle con... OMIM:606072
Myotonia With Skeletal Abnormalities And Mental Retardation
Myotonia, Kyphoscoliosis, Vertebral wedging, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
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
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus... ORPHA:488650
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Brody Disease
Skeletal muscle hypertrophy, Percussion myotonia, Myotonia, Flexion contracture OMIM:601003
Pelvic Hypoplasia With Lower-Limb Arthrogryposis
Hip contracture, Scapular winging, Lumbar hyperlordosis, Paraspinal muscle hypertrophy, Congenita... OMIM:602484
Paramyotonia Congenita
Skeletal muscle hypertrophy, Handgrip myotonia, Percussion myotonia, Paradoxical myotonia OMIM:168300
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Muscular Dystrophy, Limb-Girdle, Type 1H
Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ... OMIM:613530
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Achilles tendon contractur... ORPHA:353
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Myotonia ORPHA:371
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Scoliosis, Increased ... OMIM:613204
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Limb-girdle mu... ORPHA:86812
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type
Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat... OMIM:181400
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Spinal rigidity, Flexion contracture, Scoliosis, Increased variability in muscle fiber diameter, ... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Myasthenic Syndrome, Congenital, 13
Muscle fiber tubular inclusions, Scoliosis OMIM:614750
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Handgrip myotonia, Myotonia, Skeletal muscle hypertrophy, Percussion myo... OMIM:608390
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Muscular dy... OMIM:617066
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Oculopharyngeal Muscular Dystrophy
Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Spondylolisthesis, Rimmed v... ORPHA:270
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... OMIM:300696
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Spinal rigidity, ... ORPHA:98855
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Ra... OMIM:160500
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Bicd2-Related Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy
Distal lower limb amyotrophy, Congenital foot contraction deformities, Hand muscle weakness, Hype... ORPHA:363454
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Myopathy, Scoliosis, Increased variability in mu... OMIM:616471
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca... OMIM:608099
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increase... OMIM:613157
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Myotonia, Short neck, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98863
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal amyotrophy, Distal amyotrophy, Scoliosis,... OMIM:611067
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Lower limb muscle weakness, Ankle flexion contracture... ORPHA:267
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
Nemaline Myopathy 7
Lumbar hyperlordosis, Kyphoscoliosis, Fatty replacement of skeletal muscle, Knee flexion contract... OMIM:610687
Epilepsy, Familial Temporal Lobe, 1
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal autonomic ... OMIM:600512
Spondyloepiphyseal Dysplasia With Atlantoaxial Instability
Os odontoideum, Hand muscle atrophy, Lumbar hyperlordosis, Spondylolisthesis at L5-S1, Atlantoaxi... OMIM:600561
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Spinal rigidity, ... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Myotonia, Spinal rigidity, ... ORPHA:98853
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Quadriceps muscle weakness, Elbow flexion contracture, ... ORPHA:206546
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h... ORPHA:178400
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Percuss... OMIM:619040
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
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Fiber type grouping OMIM:614369
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Autosomal Recessive Axonal Neuropathy With Neuromyotonia
Hand muscle atrophy, Distal lower limb amyotrophy, Thoracic scoliosis, Handgrip myotonia, Myotoni... ORPHA:324442
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur... OMIM:620068
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Myotonia Permanens
Skeletal muscle hypertrophy, Myotonia, Generalized muscle hypertrophy, Hyperlordosis ORPHA:99735
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Scapular winging, Thoracic scoliosis, Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tend... ORPHA:62
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy OMIM:159050
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l... ORPHA:603
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Myotonia OMIM:170400
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Type 2 muscle fiber atrophy, Myopathy, Type 1 muscle fiber ... OMIM:603034
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno... OMIM:618654
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc... ORPHA:266
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Hypokalemic Periodic Paralysis
Myotonia, Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology ORPHA:681
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
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
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or... OMIM:500002
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Myotonia, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, Lower limb mu... ORPHA:209335
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter ORPHA:1878
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Limb mu... ORPHA:486815
Acetazolamide-Responsive Myotonia
Skeletal muscle hypertrophy, Myotonia ORPHA:99736
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Tho... OMIM:619542
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Congenital Myopathy 16
Scapular winging, Lumbar hyperlordosis, Spinal rigidity, Flexion contracture, Scoliosis, EMG: myo... OMIM:618524
Nemaline Myopathy 2
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Spinal rigidity, Fatty replacement of ske... OMIM:256030
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Congenital Myopathy 6 With Ophthalmoplegia
Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Scoliosis, Typ... OMIM:605637
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Hyperlordosis, Flexion contrac... OMIM:611588
Richieri Costa-Da Silva Syndrome
Handgrip myotonia, Decreased muscle mass, Myotonia of the upper limb, Diastasis recti, Kyphoscoli... ORPHA:3101
Myotonia Fluctuans
Handgrip myotonia, Myotonia of the upper limb, Myotonia of the face, Cold-sensitive myotonia, Myo... ORPHA:99734
Developmental And Epileptic Encephalopathy 9
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Focal hemi... OMIM:300088
Developmental Delay, Impaired Speech, And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Atonic seizure OMIM:619964
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ... ORPHA:399058
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Spinal rigidity, Proxi... ORPHA:598
Isolated Glycerol Kinase Deficiency
Myopathy, Scoliosis, Hyperlordosis ORPHA:408
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Spinal rigidity, Hyperlordosis, Kyphosis, Proximal amyotrophy, Scoliosis OMIM:617404
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Increased variability in muscle fiber diameter... OMIM:616470
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... OMIM:608340
Amyotrophic Lateral Sclerosis 27, Juvenile
Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated muscle fibers, Intrinsic ha... OMIM:620285
Episodic Ataxia Type 1
Calf muscle hypertrophy, Kyphoscoliosis, Myotonia, Scoliosis ORPHA:37612
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... OMIM:617114
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Kyphosis, E... OMIM:618138
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Scoliosis, Centrally nucleated skele... OMIM:619518
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Spinal muscular atrophy, Hyperlordosis, Kyphosis, Achilles ten... OMIM:615290
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Developmental And Epileptic Encephalopathy 53
Epileptic spasm, Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Tonic seiz... OMIM:617389
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Facial diplegia, ... OMIM:609285
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Congenital Myopathy 2A, Typical, Autosomal Dominant
Facial palsy, Spinal rigidity, Hyperlordosis, Limb muscle weakness, Type 1 muscle fiber predomina... OMIM:161800
X-Linked Centronuclear Myopathy
Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of... ORPHA:596
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Dravet Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Generalized clonic seizure, Focal ... OMIM:607208
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Crisponi/Cold-Induced Sweating Syndrome 2
Weakness of facial musculature, Lumbar hyperlordosis, Thoracolumbar scoliosis OMIM:610313
Continuous Spikes And Waves During Sleep
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Typical absence se... ORPHA:725
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Facial palsy, Generalized weakness of limb muscles, Limb-... ORPHA:353327
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Epilepsy, Familial Temporal Lobe, 5
Visually-induced seizure, Bilateral tonic-clonic seizure, Focal aware seizure, Focal impaired awa... OMIM:614417
Developmental And Epileptic Encephalopathy 15
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Focal clonic s... OMIM:615006
Congenital Myopathy 10B, Mild Variant
Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles tendon contractu... OMIM:620249
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Reduced muscle fiber alpha dystroglycan, Calf muscle hypertrophy, Shoulder girdle muscle weakness... ORPHA:34515
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Isolated Focal Cortical Dysplasia
Psychomotor deterioration, Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic sei... ORPHA:65683
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:617258
Benign Familial Infantile Epilepsy
Psychomotor deterioration, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:306
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I... ORPHA:276435
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
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ... OMIM:612937
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Polymicrogyria, Bilateral Temporooccipital
Bilateral tonic-clonic seizure with focal onset, Status epilepticus, Delirium, Focal impaired awa... OMIM:612691
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Bilateral tonic-clonic seizure, Focal-onset seizure, Dementia, Myoclonus, Mental deterioration, S... OMIM:204300
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:245570
Epilepsy, Familial Temporal Lobe, 8
Bilateral tonic-clonic seizure with focal onset, Focal aware autonomic seizure with epigastric se... OMIM:616461
Developmental And Epileptic Encephalopathy 104
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Focal im... OMIM:619970
Proximal Myotonic Myopathy
Myotonia ORPHA:606
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Thomsen And Becker Disease
Myotonia ORPHA:614
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Bilateral tonic-clonic seizure, Myoclonic seizure, Seizure, Dementia, Myoclonus OMIM:162350
Merrf
Myopathy, Ragged-red muscle fibers ORPHA:551
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, Scoliosis, EMG: myopathic abn... OMIM:609284
Dna2-Related Mitochondrial Dna Deletion Syndrome
Limb-girdle muscle weakness, Multiple joint contractures, Myopathy, Hyperlordosis ORPHA:352470
Epilepsy, Progressive Myoclonic 7
Mental deterioration, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure OMIM:616187
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ... OMIM:603689
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Hyperlordosis OMIM:162370
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contractur... OMIM:248800
Sandhoff Disease, Adult Form
Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs ORPHA:309169
Idiopathic Camptocormia
Myositis, Abnormal intervertebral disk morphology, Myotonia, Fatty replacement of skeletal muscle... ORPHA:1320
Proximal Myopathy With Extrapyramidal Signs
Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ... ORPHA:401768
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Intrinsic hand muscle atrophy, Type 1 muscle fiber predominance ORPHA:178145
Succinic Semialdehyde Dehydrogenase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:22
Epilepsy, Idiopathic Generalized, Susceptibility To, 3
Seizure, Bilateral tonic-clonic seizure OMIM:608762
Muscle Filaminopathy
Back pain, Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory mus... ORPHA:171445
Myotonic Dystrophy 2
Handgrip myotonia, Myotonia, Generalized amyotrophy, Weakness of facial musculature, Type 2 muscl... OMIM:602668
Intellectual Developmental Disorder, Autosomal Dominant 69
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:617863
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Kypho... OMIM:607855
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, Scolio... OMIM:619574
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l... ORPHA:59135
Spondyloepiphyseal Dysplasia Tarda, Autosomal Recessive, Leroy-Spranger Type
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Thoracic kyphosis, Scoliosis,... OMIM:609223
Normokalemic Periodic Paralysis
Percussion myotonia OMIM:170600
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Foot joint c... ORPHA:536516
Ceroid Lipofuscinosis, Neuronal, 8, Northern Epilepsy Variant
Mental deterioration, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:610003
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Spinal rigidity, Hyperlordosis, Flexion contracture, Myopathy ORPHA:157973
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Congenital Myopathy 14
Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ... OMIM:618414
Myoclonic Epilepsy, Juvenile, Susceptibility To, 4
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:611364
Epilepsy, Nocturnal Frontal Lobe, 2
Bilateral tonic-clonic seizure, Status epilepticus OMIM:603204
Lennox-Gastaut Syndrome
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Myoclonus, At... ORPHA:2382
Developmental And Epileptic Encephalopathy 98
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Clonic seizure, ... OMIM:619605
Myopathy, Centronuclear, 5
Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers OMIM:615959
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Bilateral tonic-clonic seizure, Confusion, Focal-onset seizure, Seizure, Dementia, Myoclonus, Men... OMIM:615362
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1... ORPHA:171442
Developmental And Epileptic Encephalopathy 11
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus OMIM:613721
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi... OMIM:603511
Landau-Kleffner Syndrome
Short attention span, Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clon... ORPHA:98818
Neurodevelopmental Disorder With Hypotonia And Gross Motor And Speech Delay
Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder OMIM:619639
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
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Developmental And Epileptic Encephalopathy 26
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:616056
Developmental And Epileptic Encephalopathy 43
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Atypical absence seizure, At... OMIM:617113
Finnish Upper Limb-Onset Distal Myopathy
Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat... ORPHA:399086
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness... OMIM:606070
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis... OMIM:255800
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Myopathy, Ragged-red muscle fibers OMIM:545000
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Congenital Myopathy 10A, Severe Variant
Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib... OMIM:614399
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Typical Nemaline Myopathy
Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Limb-girdle muscle weakness, ... ORPHA:171436
Developmental And Epileptic Encephalopathy 24
Bilateral tonic-clonic seizure, Focal-onset seizure, Clonic seizure, Generalized non-motor (absen... OMIM:615871
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle... OMIM:619903
Epilepsy, Early-Onset, 4, Vitamin B6-Dependent
Generalized myoclonic seizure, Clonic seizure, Bilateral tonic-clonic seizure, Status epilepticus OMIM:266100
Myoclonic Epilepsy Of Unverricht And Lundborg
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Dementia, Myoclonus, Men... OMIM:254800
Polymicrogyria, Bilateral Perisylvian, X-Linked
Atypical absence seizure, Bilateral tonic-clonic seizure, Cognitive impairment OMIM:300388
Hereditary Continuous Muscle Fiber Activity
Congenital diaphragmatic hernia, Type 1 muscle fiber predominance ORPHA:972
Seizures, Benign Familial Neonatal, 2
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:121201
Developmental And Epileptic Encephalopathy 74
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Typical absence seizure, Myoclon... OMIM:618396
Seizures, Benign Familial Infantile, 5
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617080
Developmental And Epileptic Encephalopathy 12
Focal-onset seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure OMIM:613722
Distal Myotilinopathy
EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib... ORPHA:98911
Developmental And Epileptic Encephalopathy 31A
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Atypical absence status epileptic... OMIM:616346
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Scoliosis, Type 1 muscle... ORPHA:424107
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Increased variability in muscle fiber diameter ORPHA:238329
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Seizures, Benign Familial Infantile, 2
Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:605751
Intellectual Developmental Disorder, Autosomal Recessive 34, With Variant Lissencephaly
Seizure, Bilateral tonic-clonic seizure OMIM:614499
Familial Focal Epilepsy With Variable Foci
Bilateral tonic-clonic seizure, Infantile spasms, Simple febrile seizure, Focal-onset seizure, Fo... ORPHA:98820
Developmental And Epileptic Encephalopathy 54
Bilateral tonic-clonic seizure, Tonic seizure, Seizure, Myoclonus, Atypical absence seizure, Aton... OMIM:617391
Myoclonic Epilepsy Of Infancy
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Photosensitive tonic-clonic seizur... ORPHA:86909
Central Core Disease
Multiple joint contractures, Kyphoscoliosis, Myopathy, Type 1 muscle fiber predominance, Pelvic g... ORPHA:597
Epilepsy, Familial Adult Myoclonic, 5
Myoclonus, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Focal sensory seizur... OMIM:615400
Developmental And Epileptic Encephalopathy 94
Bilateral tonic-clonic seizure, Tonic seizure, Visually-induced seizure, Generalized non-motor (a... OMIM:615369
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Lower l... ORPHA:171881
Myopathy, Myofibrillar, 4
Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting OMIM:609452
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Spinal rigidity, Centrally nucleated skele... OMIM:620351
Epilepsy, Familial Temporal Lobe, 3
Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset, Deja vu aura OMIM:611630
Childhood-Onset Nemaline Myopathy
Scapular winging, Spinal rigidity, Flexion contracture, Increased muscle lipid content, Generaliz... ORPHA:171439
Generalized Epilepsy With Febrile Seizures Plus, Type 2
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Focal-onset seizure, Generalized non-mo... OMIM:604403
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers ORPHA:480
Epilepsy, Familial Adult Myoclonic, 4
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:615127
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Anauxetic Dysplasia 2
Ovoid vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Eyelid myoclonus, Seizur... OMIM:618357
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Myotonia, Flexion contracture, Skeletal muscle hypertrophy, Myopathy ORPHA:682
Epilepsy, Progressive Myoclonic, 6
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonus, Myoclonic sta... OMIM:614018
Dpm3-Cdg
Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness ORPHA:263494
Bilateral Parasagittal Parieto-Occipital Polymicrogyria
Seizure, Bilateral tonic-clonic seizure, Delirium, Focal impaired awareness seizure ORPHA:208441
Hyperkalemic Periodic Paralysis
Myotonia OMIM:170500
Myasthenic Syndrome, Congenital, 12
Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Epilepsy, Progressive Myoclonic, 12
Mental deterioration, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity ... OMIM:619191
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen... OMIM:500009
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Epilepsy, Progressive Myoclonic, 8
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Dementia, Myoclonus, Action... OMIM:616230
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc... OMIM:620161
Myopathy, Myofibrillar, 2
Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati... OMIM:608810
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Generalized amyotrophy, Pelvic girdle m... OMIM:615156
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Flexion contracture, Skeletal muscle hypertrophy, Macroglossia, Musc... OMIM:613156
Cortical Malformations, Occipital
Focal impaired awareness automatism seizure, Bilateral tonic-clonic seizure OMIM:614115
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Epilepsy, Familial Focal, With Variable Foci 4
Bilateral tonic-clonic seizure, Simple febrile seizure, Focal-onset seizure, Clonic seizure, Foca... OMIM:617935
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Autosomal Dominant Epilepsy With Auditory Features
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... ORPHA:101046
Episodic Ataxia, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Seizure, Status epilepticus OMIM:618924
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Bilateral tonic-clonic seizure, Myoclonus OMIM:604827
Rolandic Epilepsy-Speech Dyspraxia Syndrome
Focal-onset seizure, Short attention span, Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:163721
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Hyperlordosis, Flexion contracture, ... OMIM:613327
Epilepsy, Myoclonic Juvenile
Morning myoclonic jerks, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:254770
Epilepsy, Progressive Myoclonic, 9
Bilateral tonic-clonic seizure, Status epilepticus, Myoclonus, Generalized myoclonic seizure, Act... OMIM:616540
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Developmental And Epileptic Encephalopathy 59
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal clonic seizure, Focal impa... OMIM:617904
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure, Focal motor seizure, Myoclonus OMIM:608105
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Increased variability in muscle fiber diameter, Increased intramyocellular lipid droplets OMIM:619065
Epilepsy, Idiopathic Generalized, Susceptibility To, 12
Bilateral tonic-clonic seizure OMIM:614847
Seizures, Benign Familial Neonatal, 3
Bilateral tonic-clonic seizure OMIM:608217
Generalized Epilepsy With Febrile Seizures Plus, Type 9
Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) seizure, Focal imp... OMIM:616172
Developmental And Epileptic Encephalopathy 13
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... OMIM:614558
Developmental And Epileptic Encephalopathy 27
Epileptic spasm, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, My... OMIM:616139
Generalized Epilepsy With Febrile Seizures-Plus
Generalized-onset seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-m... ORPHA:36387
Developmental And Epileptic Encephalopathy 33
Epileptic spasm, Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonic seizure, Seizure OMIM:616409
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low... OMIM:613954
Epilepsy, Familial Adult Myoclonic, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:601068
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Bilateral tonic-clonic seizure, Typical absence seizure, Generalized non-motor (absence) seizure,... OMIM:607682
Neurodevelopmental Disorder With Or Without Early-Onset Generalized Epilepsy
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Myo... OMIM:619157
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Myotonia, Scoliosis ORPHA:391307
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Neurodevelopmental Disorder With Hypotonia And Impaired Expressive Language And With Or Without Seizures
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617171
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Perioral Myoclonia With Absences
Bilateral tonic-clonic seizure, Focal seizure with eyelid myoclonia, Generalized non-motor (absen... ORPHA:139426
Familial Anetoderma
Lumbar hyperlordosis ORPHA:228277
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc... OMIM:226670
Epilepsy, Progressive Myoclonic, 3, With Or Without Intracellular Inclusions
Myoclonic status epilepticus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure with ... OMIM:611726
Progressive Myoclonic Epilepsy Type 3
Bilateral tonic-clonic seizure, Progressive psychomotor deterioration, Dementia, Chin myoclonus, ... ORPHA:263516
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:617831
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers, Scoliosis OMIM:618416
Centralopathic Epilepsy
Focal-onset seizure, Bilateral tonic-clonic seizure with focal onset, Nocturnal seizures OMIM:117100
Absence Deformity Of Leg-Cataract Syndrome
Scoliosis, Hyperlordosis ORPHA:2310
Congenital-Onset Steinert Myotonic Dystrophy
Myotonia, Facial hypotonia, Scoliosis ORPHA:589821
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Spastic Paraplegia 87, Autosomal Recessive
Lumbar hyperlordosis OMIM:619966
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Scapular winging, Lumbar hyperlordo... ORPHA:435387
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis, Scoliosis, Hypoplastic ... OMIM:222600
Cerebellar Atrophy, Developmental Delay, And Seizures
Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:617643
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Epilepsy, Familial Adult Myoclonic, 3
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:613608
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis ORPHA:970
Mitochondrial Complex Iv Deficiency, Nuclear Type 23
Percussion myotonia, Nemaline bodies, Elbow contracture OMIM:620275
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Absence seizure with eyelid myoclonia, Bilateral tonic-clonic seizure, Generalized myoclonic-aton... OMIM:618587
Lissencephaly 10
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:618873
Neurodevelopmental Disorder With Microcephaly, Ataxia, And Seizures
Bilateral tonic-clonic seizure OMIM:617709
Epilepsy, Idiopathic Generalized, Susceptibility To, 14
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Generalized myo... OMIM:616685
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Hyperlordosis, Fatty replacement of skeletal muscle, Abnormality of the vertebral column, General... ORPHA:52430
Febrile Seizures, Familial, 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:604352
Epilepsy, Idiopathic Generalized, Susceptibility To, 17
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:602477
Febrile Seizures, Familial, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:121210
Febrile Seizures, Familial, 5
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609255
Febrile Seizures, Familial, 6
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, At... OMIM:609253
Stxbp1-Related Encephalopathy
Epileptic spasm, Bilateral tonic-clonic seizure with focal onset, Infantile spasms, Focal motor s... ORPHA:599373
Ceroid Lipofuscinosis, Neuronal, 3
Psychomotor deterioration, Bilateral tonic-clonic seizure, Seizure, Dementia, Myoclonus OMIM:204200
Mitochondrial Complex I Deficiency, Nuclear Type 12
Bilateral tonic-clonic seizure, Seizure, Dementia, Myoclonus, Generalized myoclonic seizure OMIM:301020
Developmental And Epileptic Encephalopathy 30
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:616341
Developmental And Epileptic Encephalopathy 34
Bilateral tonic-clonic seizure with focal onset, Focal hemiclonic seizure, Focal-onset seizure, S... OMIM:616645
Generalized Epilepsy With Febrile Seizures Plus, Type 7
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Feb... OMIM:613863
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Hyperlordosis, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy, Muscle fiber atrophy ORPHA:369840
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Kyphoscoli... ORPHA:1145
Epilepsy, Idiopathic Generalized
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:600669
Chromosome 15Q11-Q13 Duplication Syndrome
Seizure, Bilateral tonic-clonic seizure OMIM:608636
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ragged-red muscle fibers OMIM:615159
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ... ORPHA:119
Myotonic Dystrophy 1
Facial diplegia, Myotonia OMIM:160900
Unilateral Hemispheric Polymicrogyria
Bilateral tonic-clonic seizure, Infantile spasms, Focal atonic seizure, Focal-onset seizure, Gene... ORPHA:101071
Benign Familial Neonatal-Infantile Seizures
Bilateral tonic-clonic seizure, Tonic seizure, Focal clonic seizure, Mental deterioration, Neonat... ORPHA:140927
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Facial palsy, Ankle flexion contracture, Type 1 muscle fiber atrophy, Distal amyotrophy, Generali... OMIM:617519
Developmental And Epileptic Encephalopathy 99
Epileptic spasm, Multifocal seizures, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemicl... OMIM:619606
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Focal impaired awareness seizure, S... ORPHA:330050
Seizures, Benign Familial Infantile, 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal impaired a... OMIM:607745
Metaphyseal Chondrodysplasia, Spahr Type
Scoliosis, Hyperlordosis ORPHA:2501
Masa Syndrome
Kyphosis, Hyperlordosis OMIM:303350
Juvenile Absence Epilepsy
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizur... ORPHA:1941
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle... OMIM:608930
Developmental And Epileptic Encephalopathy 91
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal motor seizure, Myoclonic se... OMIM:617711
Malignant Migrating Focal Seizures Of Infancy
Epileptic spasm, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset,... ORPHA:293181
Intellectual Developmental Disorder, X-Linked 1
Seizure, Bilateral tonic-clonic seizure, Atonic seizure OMIM:309530
Yoon-Bellen Neurodevelopmental Syndrome
Generalized myoclonic-atonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Status ep... OMIM:619701
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Increased variability in muscle fiber diameter OMIM:617915
Epilepsy, Idiopathic Generalized, Susceptibility To, 10
Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized non-motor (absence) seizure, Gen... OMIM:613060
Epilepsy, Familial Temporal Lobe, 2
Bilateral tonic-clonic seizure, Febrile status epilepticus, Focal impaired awareness seizure, Foc... OMIM:608096
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Muscular dystrophy, Lower limb muscle we... OMIM:615980
Encephalopathy Due To Prosaposin Deficiency
Bilateral tonic-clonic seizure, Myoclonus ORPHA:139406
Generalized Epilepsy With Febrile Seizures Plus, Type 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:604233
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
Developmental And Epileptic Encephalopathy 63
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure, Myoclonic seizure, Se... OMIM:617976
Acute Encephalopathy With Biphasic Seizures And Late Reduced Diffusion
Complex febrile seizure, Seizure precipitated by febrile infection, Bilateral tonic-clonic seizur... ORPHA:363549
Spondyloepimetaphyseal Dysplasia, Handigodu Type
Hip contracture, Lumbar hyperlordosis, Abnormal intervertebral disk morphology, Platyspondyly, Ab... ORPHA:99642
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Myoclonic Epilepsy, Familial Infantile
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Generalized myoclonic seizure, Febr... OMIM:605021
Developmental And Epileptic Encephalopathy 52
Bilateral tonic-clonic seizure, Focal hemiclonic seizure, Seizure, Atypical absence seizure, Gene... OMIM:617350
Mitochondrial Complex I Deficiency, Nuclear Type 21
Myopathy, Ragged-red muscle fibers OMIM:618242
Pseudodiastrophic Dysplasia
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C... OMIM:264180
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Pontocerebellar Hypoplasia, Type 14
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619301
Kohlschutter-Tonz Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia OMIM:226750
Developmental And Epileptic Encephalopathy 108
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure with focal ... OMIM:620115
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter OMIM:613752
Developmental And Epileptic Encephalopathy 67
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Generalized non-motor (a... OMIM:618141
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:616756
Spastic Paraplegia 79B, Autosomal Recessive
Myotonia, Flexion contracture OMIM:615491
Pachygyria With Impaired Intellectual Development, Seizures, And Arachnoid Cysts
Bilateral tonic-clonic seizure, Atypical absence seizure OMIM:600176
Systemic Primary Carnitine Deficiency
Bilateral tonic-clonic seizure with focal onset, Confusion ORPHA:158
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m... OMIM:616867
Developmental And Epileptic Encephalopathy 109
Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Typical absence seizure,... OMIM:620145
Intellectual Developmental Disorder, X-Linked 100
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:300923
Developmental And Epileptic Encephalopathy 6B
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Focal hemiclonic seizure, Focal-o... OMIM:619317
Lissencephaly 3
Seizure, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:611603
Developmental And Epileptic Encephalopathy 42
Bilateral tonic-clonic seizure, Tonic seizure, Focal tonic seizure, Myoclonic seizure, Focal impa... OMIM:617106
Striatonigral Degeneration, Childhood-Onset
Lumbar hyperlordosis OMIM:617054
Unilateral Focal Polymicrogyria
Bilateral tonic-clonic seizure with focal onset, Simple febrile seizure, Focal motor seizure, Sei... ORPHA:268947
Developmental And Epileptic Encephalopathy 23
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal impaired awareness seizure... OMIM:615859
Combined Oxidative Phosphorylation Deficiency 49
Ragged-red muscle fibers OMIM:619024
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure, Seizure, Myocl... OMIM:618497
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Epilepsy, Juvenile Absence, Susceptibility To, 1
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607631
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Combined Oxidative Phosphorylation Deficiency 31
Increased variability in muscle fiber diameter, Left ventricular noncompaction, Increased intramy... OMIM:617228
Generalized Epilepsy With Febrile Seizures Plus, Type 4
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:609800
Epilepsy, Juvenile Myoclonic, Susceptibility To, 10
Generalized myoclonic seizure, Febrile seizure (within the age range of 3 months to 6 years), Bil... OMIM:617924
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Intellectual Developmental Disorder, Autosomal Dominant 5
Seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:612621
Congenital Myopathy 24
Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance OMIM:617336
Intellectual Developmental Disorder With Seizures And Language Delay
Bilateral tonic-clonic seizure, Myoclonic absence seizure, Myoclonic seizure OMIM:619000
Episodic Ataxia, Type 2
Myotonia OMIM:108500
Pontocerebellar Hypoplasia, Type 15
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure OMIM:619302
Muscular Dystrophy, Duchenne Type
Calf muscle pseudohypertrophy, Hyperlordosis, Achilles tendon contracture, Flexion contracture, K... OMIM:310200
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle fiber size, Increased... OMIM:620278
Epilepsy, Idiopathic Generalized, Susceptibility To, 11
Generalized myoclonic seizure, Bilateral tonic-clonic seizure on awakening, Generalized non-motor... OMIM:607628
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities
Seizure, Bilateral tonic-clonic seizure OMIM:620317
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Facial palsy, Hyperlordosis ORPHA:3068
Mucolipidosis Type Iii
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:577
Hypochondroplasia
Scoliosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:429
Rasmussen Subacute Encephalitis
Epilepsia partialis continua, Epileptic spasm, Repeated focal motor seizures, Bilateral tonic-clo... ORPHA:1929
Epilepsy, Familial Temporal Lobe, 6
Bilateral tonic-clonic seizure with focal onset, Focal impaired awareness seizure, Status epilept... OMIM:615697
Seizures, Benign Familial Neonatal, 1
Febrile seizure (within the age range of 3 months to 6 years), Focal clonic seizure, Bilateral to... OMIM:121200
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Quadriceps muscle weakness, Rhabdomyolysis, Proximal amyo... ORPHA:254854
Spastic Paraplegia Type 7
Ragged-red muscle fibers, Upper limb muscle weakness, Lower limb hypertonia, Scoliosis, Lower lim... ORPHA:99013
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter OMIM:614096
Bilateral Generalized Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure,... ORPHA:208447
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Irregular vertebral endplates, Coronal cleft vert... OMIM:618363
Congenital Disorder Of Glycosylation, Type Iaa
Bilateral tonic-clonic seizure, Status epilepticus OMIM:617082
Alternating Hemiplegia Of Childhood 1
Bilateral tonic-clonic seizure OMIM:104290
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement... ORPHA:329478
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Myopathy, Increased variability in muscle fiber diameter OMIM:125250
Febrile Seizures, Familial, 11
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Fo... OMIM:614418
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Increased variability in muscle fiber diameter, Flexion contracture, Scoliosis, Short neck OMIM:619026
Congenital Disorder Of Glycosylation, Type Iiy
Bilateral tonic-clonic seizure, Status epilepticus OMIM:620200
Developmental And Epileptic Encephalopathy 37
Focal hemiclonic seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Myoclonus OMIM:616981
Salt And Pepper Developmental Regression Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:609056
Rolandic Epilepsy
Short attention span, Focal hemifacial clonic seizure, Bilateral tonic-clonic seizure with focal ... ORPHA:1945
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, EMG: myo... OMIM:609560
Epilepsy, Childhood Absence, Susceptibility To, 1
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:600131
Febrile Seizures, Familial, 8
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:607681
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E... ORPHA:397744
Episodic Ataxia, Type 5
Bilateral tonic-clonic seizure, Typical absence seizure, Myoclonus, Atypical absence seizure, Feb... OMIM:613855
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar... OMIM:620011
Intellectual Developmental Disorder, Autosomal Recessive 44
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:615942
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Myotonia, Shoulder flexi... ORPHA:800
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis OMIM:300831
Guanidinoacetate Methyltransferase Deficiency
Bilateral tonic-clonic seizure, Seizure, Focal impaired awareness seizure, Generalized myoclonic ... ORPHA:382
Stiff Person Spectrum Disorder
Lumbar hyperlordosis, Paraspinal muscle hypertrophy ORPHA:3198
Myasthenic Syndrome, Congenital, 16
Hyperlordosis OMIM:614198
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Upper limb muscle weakness, Type 2 muscle fib... OMIM:601462
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Short neck,... OMIM:114300
Spinocerebellar Ataxia, Autosomal Recessive 12
Bilateral tonic-clonic seizure OMIM:614322
Peho-Like Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:617507
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Brain Atrophy
Bilateral tonic-clonic seizure OMIM:617862
Generalized Epilepsy-Paroxysmal Dyskinesia Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure ORPHA:79137
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Developmental And Epileptic Encephalopathy 66
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, C... OMIM:618067
Neurodevelopmental Disorder With Hearing Loss And Spasticity
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Generalized non-motor (abs... OMIM:619616
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, Irregular v... OMIM:184100
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy, Hyperlordosis OMIM:600462
Autosomal Dominant Spondylocostal Dysostosis
Hyperlordosis, Short neck, Abnormal sacrum morphology, Vertebral segmentation defect, Scoliosis, ... ORPHA:1797
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617290
Myoclonus, Intractable, Neonatal
Increased variability in muscle fiber diameter OMIM:617235
Striatonigral Degeneration, Infantile, Mitochondrial
Ragged-red muscle fibers OMIM:500003
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame... OMIM:619461
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Seizures, Benign Familial Infantile, 1
Focal-onset seizure, Generalized-onset seizure, Focal impaired awareness seizure, Bilateral tonic... OMIM:601764
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Myoclonic seizure OMIM:618856
Atelosteogenesis, Type Ii
Lumbar hyperlordosis, Cervical kyphosis, Short neck, Increased intervertebral space, Coronal clef... OMIM:256050
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Foxg1 Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Status epilepticus, Myoclo... ORPHA:561854
Mitochondrial Complex I Deficiency, Nuclear Type 15
Neonatal death, Bilateral tonic-clonic seizure OMIM:618237
Acrocapitofemoral Dysplasia
Ovoid vertebral bodies, Scoliosis, Hyperlordosis ORPHA:63446
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased variability in muscle ... OMIM:258450
Intellectual Developmental Disorder With Severe Speech And Ambulation Defects
Bilateral tonic-clonic seizure, Infantile spasms OMIM:618470
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Arthrogryposis multiplex congenita,... OMIM:608931
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Kyphosis, Scoliosis OMIM:128100
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Abnormal form of the vertebral bodies, ... ORPHA:750
Developmental And Epileptic Encephalopathy 102
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, F... OMIM:619881
Thyrotoxic Periodic Paralysis
Myotonia, Abnormal muscle fiber morphology, Rhabdomyolysis, Increased intramyocellular lipid drop... ORPHA:79102
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Bilateral tonic-clonic seizure OMIM:618425
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Thoracolumbar kyphoscoliosis, Hyperlordosis, Vertebral wedging,... ORPHA:1159
Succinic Semialdehyde Dehydrogenase Deficiency
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Status epilepti... OMIM:271980
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue ORPHA:663
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Autosomal Recessive Frontotemporal Pachygyria
Seizure, Bilateral tonic-clonic seizure ORPHA:329329
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Glycogen Storage Disease 0, Muscle
Bilateral tonic-clonic seizure OMIM:611556
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Tonic seizure OMIM:618090
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal impaired awareness seizure, At... OMIM:620292
Developmental And Epileptic Encephalopathy 93
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Clonic seizure, Focal-onset seiz... OMIM:618012
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Distal amyotrophy, Lumbar hyperlordosis, Limb muscle weakness, Scoliosis OMIM:601152
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:604317
Intellectual Disability And Myopathy Syndrome
Achilles tendon contracture, Lumbar hyperlordosis, Scoliosis OMIM:619719
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Red... ORPHA:370959
Spinocerebellar Ataxia 28
Lower limb hypertonia, Ragged-red muscle fibers OMIM:610246
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Epileptic spasm, Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonus, Febrile seizure ... ORPHA:289266
Myasthenic Syndrome, Congenital, 6, Presynaptic
Arthrogryposis multiplex congenita, Type 2 muscle fiber atrophy OMIM:254210
Muscular Dystrophy, Congenital, Megaconial Type
Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy OMIM:602541
Cataracts, Spastic Paraparesis, And Speech Delay
Complex febrile seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure,... OMIM:619338
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Generalized-onset seizure, Bilateral tonic-clonic seizure, Seizure, Attention deficit hyperactivi... OMIM:619827
Stuve-Wiedemann Syndrome 1
Myotonia, Ovoid vertebral bodies, Short neck, Elbow flexion contracture, Knee flexion contracture... OMIM:601559
Glycosylphosphatidylinositol Biosynthesis Defect 15
Atonic seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myocloni... OMIM:617810
Osteochondrodysplasia, Brachydactyly, And Overlapping Malformed Digits
Lumbar hyperlordosis, Scoliosis OMIM:618167
Dysferlin-Related Limb-Girdle Muscular Dystrophy R2
Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordosis, Proxim... ORPHA:268
Late Infantile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Focal-onset seizure, Typical absen... ORPHA:168491
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Decreased muscle mass, Lumbar hyperlordosis, Thoracolumbar scoliosis, Kyphoscoliosis, Lumbar kyph... ORPHA:3041
Cerebral Creatine Deficiency Syndrome 2
Bilateral tonic-clonic seizure, Seizure, Myoclonus, Febrile seizure (within the age range of 3 mo... OMIM:612736
Cln3 Disease
Bilateral tonic-clonic seizure, Focal-onset seizure, Myoclonic seizure, Seizure, Dementia, Mental... ORPHA:228346
Epiphyseal Dysplasia, Multiple, With Miniepiphyses
Lumbar hyperlordosis OMIM:609325
Developmental Delay And Seizures With Or Without Movement Abnormalities
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonic absence seizure OMIM:617836
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Hyperlordosis, Short neck, Elbow flexion contracture, Scoliosis, Camptodac... OMIM:615065
Clcn4-Related X-Linked Intellectual Disability Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Focal ... ORPHA:485350
Mercaptolactate-Cysteine Disulfiduria
Bilateral tonic-clonic seizure OMIM:249650
Brain Small Vessel Disease 2
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614483
Developmental And Epileptic Encephalopathy 106
Focal clonic seizure, Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure OMIM:620028
Severe Canavan Disease
Seizure, Bilateral tonic-clonic seizure ORPHA:314911
Juvenile Neuronal Ceroid Lipofuscinosis
Bilateral tonic-clonic seizure, Seizure, Dementia, Progressive language deterioration, Cognitive ... ORPHA:79264
Developmental And Epileptic Encephalopathy 103
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Tonic status epilepticus, General... OMIM:619913
Neurodevelopmental Disorder With Language Impairment And Behavioral Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Focal-onset seizure, Clonic seizure, Febrile seizu... OMIM:618917
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ... ORPHA:254886
Developmental And Epileptic Encephalopathy 41
Epileptic spasm, Bilateral tonic-clonic seizure, Focal tonic seizure, Myoclonic seizure, Myocloni... OMIM:617105
Severe Neonatal-Onset Encephalopathy With Microcephaly
Seizure, Bilateral tonic-clonic seizure ORPHA:209370
Intellectual Developmental Disorder, Autosomal Dominant 6, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Status epilepticus OMIM:613970
Intellectual Developmental Disorder, X-Linked 30
Short attention span, Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... OMIM:300558
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers ORPHA:477774
Spinocerebellar Ataxia 48
Mental deterioration, Bilateral tonic-clonic seizure OMIM:618093
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Vertebral segmentation defect, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:1323
Mulchandani-Bhoj-Conlin Syndrome
Scoliosis, Hyperlordosis OMIM:617352
Ck Syndrome
Lumbar hyperlordosis, Kyphoscoliosis ORPHA:251383
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Spondyloepimetaphyseal Dysplasia, Matrilin-3 Type
Lumbar hyperlordosis ORPHA:156728
Aminoacylase 1 Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:609924
Spondyloepimetaphyseal Dysplasia, Strudwick Type
Hyperlordosis, Hypoplasia of the odontoid process, Platyspondyly, Scoliosis, C1-C2 subluxation OMIM:184250
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen... OMIM:616866
Polymicrogyria With Optic Nerve Hypoplasia
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:250972
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Handgrip myotonia, Facial hypotonia ORPHA:438216
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo... OMIM:252011
Behavioral Variant Of Frontotemporal Dementia
Mental deterioration, Memory impairment, Bilateral tonic-clonic seizure, Frontotemporal dementia ORPHA:275864
Early-Onset Epilepsy-Intellectual Disability-Brain Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:488635
Spastic Ataxia 5, Autosomal Recessive
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Cognitive impairment OMIM:614487
New-Onset Refractory Status Epilepticus
Seizure precipitated by febrile infection, Confusion, Bilateral tonic-clonic seizure with focal o... ORPHA:363558
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy OMIM:613561
Stiff-Person Syndrome
Proximal limb muscle stiffness, Lumbar hyperlordosis, Asymmetric limb muscle stiffness, Axial mus... OMIM:184850
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo... ORPHA:206569
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Butterfly vertebrae ORPHA:313892
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Abnormal curvature of the ver... ORPHA:168572
Mucopolysaccharidosis, Type X
Hyperlordosis, Platyspondyly, Posterior scalloping of vertebral bodies, Scoliosis, Left ventricul... OMIM:619698
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... OMIM:610539
Hypoinsulinemic Hypoglycemia With Hemihypertrophy
Bilateral tonic-clonic seizure OMIM:240900
Neurodevelopmental Disorder With Spastic Paraplegia And Microcephaly
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:616281
Epilepsy, Familial Adult Myoclonic, 2
Dementia, Bilateral tonic-clonic seizure, Myoclonus, Cognitive impairment OMIM:607876
Cataract-Intellectual Disability-Hypogonadism Syndrome
Scoliosis, Hyperlordosis ORPHA:1387
Three M Syndrome 1
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Spina bifida occulta OMIM:273750
Intellectual Developmental Disorder, Autosomal Recessive 41
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615637
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperlordosis ORPHA:3085
Thoracomelic Dysplasia
Hyperlordosis, Short neck ORPHA:1803
Alpers-Huttenlocher Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:726
Usmani-Riazuddin Syndrome, Autosomal Dominant
Lumbar hyperlordosis, Thoracic kyphosis OMIM:619467
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:617468
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Focal impaired ... OMIM:619854
Anauxetic Dysplasia 1
Hip contracture, Lumbar hyperlordosis, Short neck, Elbow flexion contracture, Macroglossia, Platy... OMIM:607095
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Fatigable weakness, Febrile seizure (within the age range of 3 months to 6 years), Fatigable weak... ORPHA:42
Atherosclerosis-Deafness-Diabetes-Epilepsy-Nephropathy Syndrome
Hyperlordosis ORPHA:1192
Lafora Disease
Bilateral tonic-clonic seizure, Confusion, Bilateral tonic-clonic seizure with focal onset, Gener... ORPHA:501
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Flexion contracture, Macroglo... ORPHA:258
Autosomal Dominant Spastic Paraplegia Type 6
Bilateral tonic-clonic seizure ORPHA:100988
Neurodevelopmental Disorder With Involuntary Movements
Bilateral tonic-clonic seizure, Infantile spasms, Focal impaired awareness seizure OMIM:617493
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age
Scapular winging, Hyperlordosis, Coronal cleft vertebrae, Scoliosis, Butterfly vertebrae OMIM:618870
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Increased vertebral height, Abnormal vertebral morphology, Kyphoscoliosis, Hyperlordosis OMIM:616817
Infantile Cerebellar-Retinal Degeneration
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:614559
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Mental deterioration, Dementia, Bilateral tonic-clonic seizure, Cognitive impairment ORPHA:199354
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Scoliosis, Hyperlordosis ORPHA:2511
Three M Syndrome 2
Hyperlordosis, Scapular winging, Lumbar hyperlordosis, Short neck OMIM:612921
Familial Infantile Myoclonic Epilepsy
Bilateral tonic-clonic seizure with generalized onset, Bilateral tonic-clonic seizure, Simple feb... ORPHA:352582
Short Stature And Advanced Bone Age, With Or Without Early-Onset Osteoarthritis And/Or Osteochondritis Dissecans
Lumbar hyperlordosis OMIM:165800
Intellectual Developmental Disorder, Autosomal Dominant 45
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Focal... OMIM:617600
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Infantile spasms... OMIM:619428
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Intellectual Developmental Disorder, X-Linked, Syndromic, Hedera Type
Seizure, Bilateral tonic-clonic seizure OMIM:300423
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Ragged-red muscle fibers OMIM:613662
Spondylomegaepiphyseal Dysplasia With Upper Limb Mesomelia, Punctate Calcifications, And Deafness
Lumbar hyperlordosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Beaking of vertebr... OMIM:609616
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Oxoglutarate Dehydrogenase Deficiency
Bilateral tonic-clonic seizure OMIM:203740
Cutis Laxa, Autosomal Recessive, Type Iie
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:619451
Developmental And Epileptic Encephalopathy 90
Focal-onset seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure OMIM:301058
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Congenital Fiber-Type Disproportion Myopathy
Hip contracture, Kyphoscoliosis, Hyperlordosis, Hypoplasia of the musculature, Ankle flexion cont... ORPHA:2020
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Bilateral tonic-clonic seizure OMIM:301076
Myasthenic Syndrome, Congenital, 19
Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Spondyloepimetaphyseal Dysplasia, Shohat Type
Hyperlordosis, Short neck, Platyspondyly, Squared-off platyspondyly, Scoliosis, Vertebral compres... ORPHA:93352
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Thenar muscle atrophy, Distal lower limb muscle weakness, Interosse... OMIM:500013
Rhizomelic Dysplasia, Patterson-Lowry Type
Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:2831
Myoclonic Epilepsy Of Lafora
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neur... OMIM:254780
Developmental And Epileptic Encephalopathy 47
Focal-onset seizure, Status epilepticus, Bilateral tonic-clonic seizure, Tonic seizure OMIM:617166
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Flexion contracture OMIM:620240
Developmental And Epileptic Encephalopathy 61
Seizure, Focal clonic seizure, Bilateral tonic-clonic seizure with focal onset OMIM:617933
Mitochondrial Complex I Deficiency, Nuclear Type 13
Bilateral tonic-clonic seizure, Focal motor seizure OMIM:618235
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay
Bilateral tonic-clonic seizure OMIM:615031
Hypochondroplasia
Widened interpedicular distance, Lumbar hyperlordosis OMIM:146000
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Inc... OMIM:255125
Vocal Cord And Pharyngeal Distal Myopathy
Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ... ORPHA:600
Sarcosinemia
Bilateral tonic-clonic seizure ORPHA:3129
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Developmental And Epileptic Encephalopathy 4
Epileptic spasm, Bilateral tonic-clonic seizure, Status epilepticus, Generalized myoclonic seizur... OMIM:612164
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:464282
Spondyloepimetaphyseal Dysplasia, Irapa Type
Platyspondyly, Lumbar hyperlordosis, Hypoplastic sacrum OMIM:271650
Braddock-Carey Syndrome 1
Camptodactyly, Hyperlordosis OMIM:619980
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Steel Syndrome
Lumbar hyperlordosis, Scoliosis OMIM:615155
Autosomal Dominant Nocturnal Frontal Lobe Epilepsy
Focal hyperkinetic seizure, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disor... ORPHA:98784
D-2-Hydroxyglutaric Aciduria 1
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Myoclonic seizure, Seizure OMIM:600721
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul... OMIM:612949
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) sei... OMIM:618170
3Mc Syndrome
Diastasis recti, Hyperlordosis, Prominent coccyx, Scoliosis, Spina bifida occulta, Caudal appendage ORPHA:293843
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Houge-Janssens Syndrome 3
Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset, Focal-onset seiz... OMIM:618354
Spondyloepimetaphyseal Dysplasia, Shohat Type
Lumbar hyperlordosis, Short neck, Platyspondyly, Scoliosis, Vertebral compression fracture, Narro... OMIM:602557
Paroxysmal Dystonic Choreathetosis With Episodic Ataxia And Spasticity
Bilateral tonic-clonic seizure ORPHA:53583
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased variability in muscle fiber diameter, Increased muscle glycogen content, Increased intr... ORPHA:502423
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyolysis, Limb muscle weak... OMIM:157640
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:354
Deafness-Epiphyseal Dysplasia-Short Stature Syndrome
Hyperlordosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3218
Spondyloepiphyseal Dysplasia Tarda
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Hypop... ORPHA:93284
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Typical absence seizure, Attention deficit hyperactivity disorder... ORPHA:64280
Oculoskeletodental Syndrome
Thoracic kyphosis, Scoliosis, Hyperlordosis ORPHA:557003
Chromosome 22Q13 Duplication Syndrome
Short attention span, Bilateral tonic-clonic seizure, Attention deficit hyperactivity disorder, S... OMIM:615538
Dentici-Novelli Neurodevelopmental Syndrome
Epileptic spasm, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:619877
Developmental And Epileptic Encephalopathy 18
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Tonic seizure, Focal-... OMIM:615476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... OMIM:613150
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615716
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Increased intramyocellu... ORPHA:26791
Three M Syndrome 3
Increased vertebral height, Hyperlordosis, Short neck OMIM:614205
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive
Lumbar hyperlordosis, Flexion contracture, Coronal cleft vertebrae, Platyspondyly, Beaking of ver... OMIM:215150
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Intellectual Developmental Disorder, Autosomal Dominant 52
Cervical C2/C3 vertebral fusion, Scapular winging, Lumbar hyperlordosis, Lumbar scoliosis OMIM:617796
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Bilateral tonic-clonic seizure ORPHA:457205
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content ORPHA:228302
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Scoliosis OMIM:156500
Dk1-Cdg
Focal-onset seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:91131
Optic Atrophy 11
Facial diplegia, Increased variability in muscle fiber diameter, Fiber type grouping OMIM:617302
Narcolepsy 3
Narcolepsy OMIM:609039
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Handgrip myotonia, Myotonia of the upper limb, Abnormality of the tongue... ORPHA:273
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Platyspondyly, Scoliosis OMIM:251450
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Nocturnal seizures, Bilateral tonic-clonic seizure, Myoclonus, Attention deficit hyperactivity di... OMIM:619725
Sulfite Oxidase Deficiency, Isolated
Bilateral tonic-clonic seizure OMIM:272300
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171430
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Seizure, Bilateral tonic-clonic seizure, Status epilepticus ORPHA:529665
Spinocerebellar Ataxia With Epilepsy
Bilateral tonic-clonic seizure with focal onset, Myoclonus, Progressive neurologic deterioration ORPHA:254881
Cerebellar Ataxia, Deafness, And Narcolepsy, Autosomal Dominant
Memory impairment, Dementia, Narcolepsy OMIM:604121
Cohen Syndrome
Thoracic scoliosis, Lumbar hyperlordosis, Facial hypotonia OMIM:216550
Coenzyme Q10 Deficiency, Primary, 3
Bilateral tonic-clonic seizure with focal onset, Focal motor status epilepticus OMIM:614652
Trichorhinophalangeal Syndrome Type 1
Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:77258
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:313772
Narcolepsy 1
Narcolepsy OMIM:161400
Lethal Congenital Contracture Syndrome 10
Thoracic scoliosis, Torticollis, Short neck, Macroglossia, Increased variability in muscle fiber ... OMIM:617022
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Ragged-red muscle fibers ORPHA:1349
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Myopathy, Mitochondrial, And Ataxia
Increased variability in muscle fiber diameter, Distal amyotrophy, Scoliosis OMIM:617675
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Hyperlordosis, Hypoplasia of the odontoid process, Flexion contracture, Spinal canal stenosis, Co... OMIM:616007
Lissencephaly 9 With Complex Brainstem Malformation
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic seizure, Seizure, Focal impaired awar... OMIM:618325
Fucosidosis
Cervical platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Anterior beaking of thoraci... OMIM:230000
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyl... OMIM:253010
Developmental And Epileptic Encephalopathy 8
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Tonic seizure OMIM:300607
Pitt-Hopkins-Like Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Status epilepticus, P... OMIM:610042
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Short attention span, Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Clonic seiz... OMIM:619580
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Myopathy, Increased variability in muscle fiber diameter OMIM:604377
Osteopathia Striata-Cranial Sclerosis Syndrome
Spina bifida occulta, Facial palsy, Scoliosis, Hyperlordosis ORPHA:2780
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter OMIM:615595
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal rigidity, Kyph... ORPHA:94068
Camptodactyly-Arthropathy-Coxa-Vara-Pericarditis Syndrome
Camptodactyly of toe, Lumbar hyperlordosis, Camptodactyly of finger ORPHA:2848
Intellectual Developmental Disorder With Language Impairment And Early-Onset Dopa-Responsive Dystonia-Parkinsonism
Seizure, Bilateral tonic-clonic seizure, Focal motor seizure OMIM:619911
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Kyphosis, Thoracolumbar scoliosis, Scoliosis, Hyperlordosis OMIM:618443
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra... ORPHA:300605
Multiple Endocrine Neoplasia, Type Iib
Kyphosis, Myopathy, Scoliosis, Hyperlordosis OMIM:162300
Pyruvate Dehydrogenase E1-Alpha Deficiency
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:79243
Bilateral Polymicrogyria
Generalized-onset seizure, Bilateral tonic-clonic seizure, Generalized myoclonic seizure, Infanti... ORPHA:268940
Combined Oxidative Phosphorylation Deficiency 27
Mental deterioration, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus OMIM:616672
Spondyloepimetaphyseal Dysplasia, Borochowitz-Cormier-Daire Type
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies OMIM:608728
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting, Short neck OMIM:611881
Narcolepsy 7
Narcolepsy OMIM:614250
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Increased variability in muscle fiber diameter, Ragged-red muscle fibers ORPHA:70595
Metaphyseal Chondrodysplasia, Schmid Type
Irregular vertebral endplates, Platyspondyly, Lumbar hyperlordosis, Abnormal vertebral morphology ORPHA:174
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness OMIM:609286
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature OMIM:616239
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15
Seizure, Bilateral tonic-clonic seizure with generalized onset, Atypical absence seizure, Bilater... ORPHA:98795
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Trichorhinophalangeal Syndrome, Type I
Scapular winging, Scoliosis, Hyperlordosis OMIM:190350
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Intellectual Developmental Disorder, X-Linked, Syndromic, Bain Type
Scoliosis, Hyperlordosis OMIM:300986
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Otospondylomegaepiphyseal Dysplasia
Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Coronal cleft vertebrae, Platysp... ORPHA:1427
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5
Bilateral tonic-clonic seizure OMIM:618120
Pelvis-Shoulder Dysplasia
Back pain, Lumbar hyperlordosis, Spina bifida occulta OMIM:169550
Lissencephaly Due To Tuba1A Mutation
Focal-onset seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:171680
Molybdenum Cofactor Deficiency, Complementation Group C
Generalized myoclonic seizure, Generalized-onset seizure, Bilateral tonic-clonic seizure, Neonata... OMIM:615501
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy
Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:544503
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Bea... OMIM:177170
Smith-Mccort Dysplasia 2
Hyperlordosis, Platyspondyly, Hypoplasia of the odontoid process, Short neck OMIM:615222
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
X-Linked Intellectual Disability, Hedera Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:93952
Spondylocarpotarsal Synostosis Syndrome
Vertebral fusion, Scapular winging, Block vertebrae, Hyperlordosis, Short neck, Hypoplasia of the... OMIM:272460
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral fusion, Biconvex vertebral bodies, Lumbar hyperlordosis, Ovoid vertebral bodies, Short ... ORPHA:93315
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Seizure, Bilateral tonic-clonic seizure ORPHA:457240
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Facial palsy OMIM:606407
3-Methylglutaconic Aciduria, Type Viia
Generalized-onset seizure, Bilateral tonic-clonic seizure, Atypical absence seizure, Myoclonic se... OMIM:619835
Epilepsy, Early-Onset, 2, With Or Without Developmental Delay
Bilateral tonic-clonic seizure OMIM:618832
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Thoracolumbar kyphosis, Cervical spinal ca... ORPHA:15
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Joint contracture, Lumbar hyperlordosis OMIM:602471
Migraine, Familial Hemiplegic, 2
Bilateral tonic-clonic seizure, Confusion, Focal motor seizure OMIM:602481
Sandhoff Disease, Infantile Form
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Myoclonic seizure ORPHA:309155
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay
Back pain, Bilateral camptodactyly, Lumbar hyperlordosis, Lumbar kyphosis OMIM:619234
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Bilateral tonic-clonic seizure OMIM:619356
Nail-Patella Syndrome
Back pain, Biceps aplasia, Lumbar hyperlordosis, Absence of pectoralis minor muscle, Triceps apla... OMIM:161200
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Type 1 fibers relatively smaller than type 2 fibers, Facial palsy OMIM:619424
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Muscular dystrophy OMIM:616538
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Focal-onset seizure, Generalized n... ORPHA:395
Developmental And Epileptic Encephalopathy 105 With Hypopituitarism
Focal impaired awareness seizure, Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619983
Pfeiffer Syndrome
Hyperlordosis, Short neck ORPHA:710
D-Glyceric Aciduria
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Focal clonic seizure, Myoclonus OMIM:220120
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Increased intervertebral space, Hypoplasia of the odontoid p... ORPHA:508533
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Bilateral tonic-clonic seizure OMIM:616083
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Nail-Patella Syndrome
Back pain, Decreased muscle mass, Lumbar hyperlordosis, Contracture of the distal interphalangeal... ORPHA:2614
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle weakness, Dis... ORPHA:98914
Oculopharyngodistal Myopathy 1
Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame... OMIM:164310
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Focal clonic seizure, Bilateral tonic-clonic seizure OMIM:618381
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex... ORPHA:298
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Lumbar hyperlordosis, Thoracic kyphoscoliosis, Camptodactyly OMIM:613385
X-Linked Intellectual Disability Due To Gria3 Mutations
Seizure, Bilateral tonic-clonic seizure, Myoclonus, Status epilepticus ORPHA:364028
Langer Mesomelic Dysplasia
Lumbar hyperlordosis OMIM:249700
Snakebite Envenomation
Rhabdomyolysis, Muscle fiber necrosis ORPHA:449285
Canavan Disease
Epileptic spasm, Bilateral tonic-clonic seizure OMIM:271900
Intellectual Developmental Disorder, Autosomal Dominant 42
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal hemiclonic seizure, Focal-... OMIM:616973
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis ORPHA:763
Cartilage-Hair Hypoplasia
Abnormally ossified vertebrae, Biconvex vertebral bodies, Sacral dimple, Hyperlordosis, Short nec... ORPHA:175
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Limb-girdle muscular dystrophy, Scoliosis, Hyperlordosis OMIM:615356
Joubert Syndrome 37
Lumbar hyperlordosis OMIM:619185
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:618316
Hyperekplexia 3
Bilateral tonic-clonic seizure, Myoclonus OMIM:614618
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Type 2 muscle fiber predominance, Congenital contracture, Type 1 muscle fiber atrophy, Type 2 mus... OMIM:619036
Pelger-Huet Anomaly
Seizure, Bilateral tonic-clonic seizure OMIM:169400
Acromesomelic Dysplasia 1
Lumbar hyperlordosis, Ovoid vertebral bodies, Thoracolumbar interpediculate narrowness, Thoracolu... OMIM:602875
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:612813
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Hypoglycemic seizures, Sei... ORPHA:480864
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Thoracic platyspondyly, Short neck, Platy... ORPHA:457395
3P25.3 Microdeletion Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:435638
Epiphyseal Dysplasia, Multiple, With Early-Onset Diabetes Mellitus
Irregular vertebral endplates, Platyspondyly, Hypoplasia of the odontoid process, Hyperlordosis OMIM:226980
Pelvis-Shoulder Dysplasia
Lumbar hyperlordosis, Prominent protruding coccyx, Camptodactyly of finger, Abnormal form of the ... ORPHA:2839
Chromosome 10Q26 Deletion Syndrome
Scapular winging, Lumbar hyperlordosis, Short neck OMIM:609625
Mitochondrial Trifunctional Protein Deficiency 2
Neonatal death, Seizure, Bilateral tonic-clonic seizure OMIM:620300
Global Developmental Delay-Neuro-Ophthalmological Abnormalities-Seizures-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal impaired awareness seizure ORPHA:488613
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Scoliosis ORPHA:58
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure ORPHA:481152
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:620070
Spondyloepimetaphyseal Dysplasia, Aggrecan Type
Lumbar hyperlordosis, Short neck ORPHA:171866
Distal Deletion 10Q
Lumbar hyperlordosis, Scapular winging, Spina bifida occulta, Facial diplegia ORPHA:96148
Schimke Immunoosseous Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Platyspondyly, Thoracic kyphosis OMIM:242900
Satoyoshi Syndrome
Hyperlordosis ORPHA:3130
Frontorhiny
Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis ORPHA:391474
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Flexion contrac... ORPHA:365
Autosomal Dominant Cerebellar Ataxia-Deafness-Narcolepsy Syndrome
Mental deterioration, Memory impairment, Narcolepsy ORPHA:314404
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure OMIM:615398
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Hemi... ORPHA:573278
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Seizure, Bilateral tonic-clonic seizure, Focal myoclonic seizure, Focal impaired awareness seizure ORPHA:369929
Early-Onset Autosomal Dominant Alzheimer Disease
Deposits immunoreactive to beta-amyloid protein ORPHA:1020
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, Hypoplasia ... OMIM:253200
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Seizu... OMIM:614207
Congenital Insensitivity To Pain With Severe Intellectual Disability
Bilateral tonic-clonic seizure ORPHA:453510
Developmental And Epileptic Encephalopathy 49
Bilateral tonic-clonic seizure, Tonic seizure, Clonic seizure, Myoclonic seizure, Myoclonus OMIM:617281
Fatty Acid Hydroxylase-Associated Neurodegeneration
Mental deterioration, Focal-onset seizure, Bilateral tonic-clonic seizure ORPHA:329308
Iniencephaly
Arthrogryposis multiplex congenita, Absent vertebra, Congenital diaphragmatic hernia, Hyperlordosis ORPHA:63259
Polymyositis
Abnormal muscle fiber morphology ORPHA:732
Neuromuscular Oculoauditory Syndrome
Knee flexion contracture, Calf muscle hypertrophy, Muscle fiber necrosis, EMG: myopathic abnormal... OMIM:618733
Ritscher-Schinzel Syndrome 4
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:619435
Microcephaly-Intellectual Disability-Sensorineural Hearing Loss-Epilepsy-Abnormal Muscle Tone Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) seizure, Seizur... ORPHA:457351
Intellectual Developmental Disorder, X-Linked 98
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Generalized non-motor (absence) ... OMIM:300912
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral tonic-clonic seizure OMIM:616351
Schimke Immuno-Osseous Dysplasia
Platyspondyly, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck ORPHA:1830
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Abnormality of the vertebral colu... ORPHA:1328
Sandhoff Disease
Progressive psychomotor deterioration, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:268800
Developmental And Epileptic Encephalopathy 100
Bilateral tonic-clonic seizure, Infantile spasms, Tonic seizure, Focal-onset seizure, Typical abs... OMIM:619777
3-Phosphoglycerate Dehydrogenase Deficiency, Infantile/Juvenile Form
Epileptic spasm, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, General... ORPHA:79351
Epilepsy, X-Linked 2, With Or Without Impaired Intellectual Development And Dysmorphic Features
Epileptic spasm, Bilateral tonic-clonic seizure, Tonic seizure, Generalized non-motor (absence) s... OMIM:301091
Niemann-Pick Disease Type C
Generalized-onset seizure, Progressive neurologic deterioration, Narcolepsy, Focal-onset seizure,... ORPHA:646
Saethre-Chotzen Syndrome
Scoliosis, Abnormal form of the vertebral bodies, Hyperlordosis ORPHA:794
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Kyphoscoliosis, Increased intervertebral space, Irregular vertebral endplat... OMIM:607944
Acromesomelic Dysplasia 4
Thoracic scoliosis, Lumbar hyperlordosis, Thoracic platyspondyly, Platyspondyly, Beaking of verte... OMIM:619636
Achondroplasia
Lumbar hyperlordosis, Lumbar kyphosis in infancy, Spinal stenosis with reduced interpedicular dis... OMIM:100800
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Microcephaly, Epilepsy, And Diabetes Syndrome 2
Bilateral tonic-clonic seizure OMIM:619278
Kearns-Sayre Syndrome
Ragged-red muscle fibers OMIM:530000
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Seizure, Epileptic spasm, Bilateral tonic-clonic seizure, Generalized tonic seizure OMIM:617193
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Lumbar hyperlordosis, Kyphoscoliosis, Platyspondyly, Thoracic kyphosis, Biconcave vertebral bodie... OMIM:271510
Warburg Micro Syndrome 3
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:614222
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Flexion contracture, Lumbar kyphosis, Macroglossia, Thoracic ky... ORPHA:505248
3-Phosphoserine Phosphatase Deficiency, Infantile/Juvenile Form
Bilateral tonic-clonic seizure ORPHA:79350
Neutral Lipid Storage Myopathy
Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop... ORPHA:98908
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis ORPHA:3253
Spondylometaphyseal Dysplasia, Algerian Type
Platyspondyly, Lumbar hyperlordosis, Kyphoscoliosis OMIM:184253
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Contracture of ... ORPHA:2232
Coenzyme Q10 Deficiency, Primary, 1
Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle OMIM:607426
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Thoracic kyphoscoliosis, Thoracic scoliosis, Decreased muscle mass, Elbow flexion contracture, Li... ORPHA:1900
Opitz-Kaveggia Syndrome
Sacral dimple, Multiple joint contractures, Lumbar hyperlordosis, Short neck, Camptodactyly, Join... OMIM:305450
Developmental And Epileptic Encephalopathy 95
Multifocal seizures, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Status epilept... OMIM:618143
Cartilage-Hair Hypoplasia
Hypoplasia of the odontoid process, Lumbar hyperlordosis, Narrow vertebral interpedicular distanc... OMIM:250250
Overlap Myositis
Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m... ORPHA:206572
Melas
Short attention span, Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Dementia, Myo... ORPHA:550
Cntnap2-Related Developmental And Epileptic Encephalopathy
Bilateral tonic-clonic seizure with focal onset, Focal-onset seizure, Seizure, Progressive langua... ORPHA:163681
Desbuquois Dysplasia 2
Platyspondyly, Lumbar hyperlordosis, Short neck OMIM:615777
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased... ORPHA:17
Hyperphosphatasia-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonus ORPHA:247262
Martsolf Syndrome 1
Thoracic scoliosis, Lumbar hyperlordosis OMIM:212720
Nivelon-Nivelon-Mabille Syndrome
Focal-onset seizure, Bilateral tonic-clonic seizure OMIM:600092
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Infantile spasms OMIM:620224
Jaberi-Elahi Syndrome
Bilateral tonic-clonic seizure OMIM:617988
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Bilateral tonic-clonic seizure OMIM:201475
Trichodermodysplasia-Dental Alterations Syndrome
Scoliosis, Hyperlordosis ORPHA:3353
Molybdenum Cofactor Deficiency, Complementation Group B
Neonatal death, Seizure, Bilateral tonic-clonic seizure, Myoclonic spasms OMIM:252160
Early Infantile Epileptic Encephalopathy
Bilateral tonic-clonic seizure, Infantile spasms, Generalized clonic seizure, Focal-onset seizure... ORPHA:1934
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:615802
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Hyperlordosis, Kyphosis, Scoliosis, Spondylolisthesis, Cervic... ORPHA:363958
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Bilateral tonic-clonic seizure ORPHA:423479
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis OMIM:616078
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Lumbar hyperlordosis, Progressive flexion contractures, Scoliosis ORPHA:522077
W Syndrome
Bilateral tonic-clonic seizure ORPHA:2804
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Lumbar hyperlordosis, Short neck ORPHA:251028
Japanese Encephalitis
Bilateral tonic-clonic seizure, Focal motor seizure, Status epilepticus, Myoclonus, Cognitive imp... ORPHA:79139
Biotinidase Deficiency
Bilateral tonic-clonic seizure, Infantile spasms, Focal motor seizure, Seizure, Generalized myocl... ORPHA:79241
Glass Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... OMIM:612313
Multiple Endocrine Neoplasia Type 2
Proximal amyotrophy, Kyphoscoliosis, Hyperlordosis ORPHA:653
Distal 22Q11.2 Microdeletion Syndrome
Camptodactyly of finger, Hyperlordosis ORPHA:261330
Bone Marrow Failure Syndrome 5
Bilateral tonic-clonic seizure OMIM:618165
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities
Epileptic spasm, Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Toni... OMIM:620024
Intellectual Developmental Disorder, Autosomal Dominant 53
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... OMIM:617798
1Q44 Microdeletion Syndrome
Bilateral tonic-clonic seizure ORPHA:238769
Lujo Hemorrhagic Fever
Mental deterioration, Seizure, Bilateral tonic-clonic seizure, Confusion ORPHA:319213
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Hyperlordosis ORPHA:221139
Chromosome Xp11.3 Deletion Syndrome
Bilateral tonic-clonic seizure OMIM:300578
Hallermann-Streiff Syndrome
Scoliosis, Hyperlordosis OMIM:234100
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure, Ge... ORPHA:496641
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Sacral dimple, Short neck, Hyperlordosis, Scoliosis, Limb hypertonia OMIM:619950
Weill-Marchesani Syndrome 2
Lumbar hyperlordosis, Elbow flexion contracture, Spinal canal stenosis, Scoliosis, Flexion contra... OMIM:608328
Combined Oxidative Phosphorylation Defect Type 29
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:478029
Amish Lethal Microcephaly
Bilateral tonic-clonic seizure ORPHA:99742
Alternating Hemiplegia Of Childhood
Bilateral tonic-clonic seizure, Progressive neurologic deterioration, Focal motor seizure, Seizur... ORPHA:2131
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Scoliosis, Hyperlordosis OMIM:617011
Hermansky-Pudlak Syndrome 10
Bilateral tonic-clonic seizure, Focal myoclonic seizure OMIM:617050
Weill-Marchesani Syndrome 1
Lumbar hyperlordosis, Spinal canal stenosis, Scoliosis OMIM:277600
Primary Aldosteronism, Seizures, And Neurologic Abnormalities
Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:615474
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic seizure ORPHA:3044
Combined Oxidative Phosphorylation Deficiency 12
Ragged-red muscle fibers OMIM:614924
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Kyphosis, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis ORPHA:457359
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... OMIM:614231
Helsmoortel-Van Der Aa Syndrome
Facial palsy, Scoliosis, Hyperlordosis OMIM:615873
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Bilateral tonic-clonic seizure ORPHA:436159
Weaver Syndrome
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:277590
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Attention defic... ORPHA:466943
Combined Oxidative Phosphorylation Deficiency 3
Seizure, Bilateral tonic-clonic seizure, Cognitive impairment OMIM:610505
Ring Chromosome 12 Syndrome
Lumbar hyperlordosis ORPHA:1439
Cocaine Intoxication
Bilateral tonic-clonic seizure, Focal-onset seizure, Atypical absence status epilepticus, Seizure... ORPHA:90068
Mosaic Variegated Aneuploidy Syndrome 1
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure OMIM:257300
Autosomal Dominant Progressive External Ophthalmoplegia
Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ... ORPHA:254892
Intellectual Developmental Disorder, Autosomal Dominant 54
Seizure, Atonic seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617799
Metaphyseal Dysostosis, Impaired Intellectual Development, And Conductive Deafness
Lumbar hyperlordosis, Scoliosis OMIM:250420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Typical absence seizure, Bilateral tonic-clonic seizure, Simple febrile seizure, Attention defici... ORPHA:466950
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) se... ORPHA:369837
De Sanctis-Cacchione Syndrome
Mental deterioration, Bilateral tonic-clonic seizure OMIM:278800
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Seizure, Bilateral tonic-clonic seizure OMIM:301040
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis OMIM:301066
Kinsship Syndrome
Focal-onset seizure, Generalized non-motor (absence) seizure, Bilateral tonic-clonic seizure, Myo... OMIM:619297
Pseudoleprechaunism Syndrome, Patterson Type
Atonic seizure, Bilateral tonic-clonic seizure ORPHA:2976
X Small Rings
Seizure, Bilateral tonic-clonic seizure ORPHA:96201
Webb-Dattani Syndrome
Bilateral tonic-clonic seizure OMIM:615926
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis OMIM:182210
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Bilateral tonic-clonic seizure ORPHA:79124
Acrocapitofemoral Dysplasia
Lumbar hyperlordosis, Ovoid vertebral bodies, Scoliosis OMIM:607778
Combined Oxidative Phosphorylation Deficiency 15
Cognitive impairment, Seizure, Bilateral tonic-clonic seizure with focal onset, Progressive neuro... OMIM:614947
D-Bifunctional Protein Deficiency
Seizure, Bilateral tonic-clonic seizure OMIM:261515
Neurodevelopmental Disorder With Microcephaly, Cerebral Atrophy, And Visual Impairment
Generalized-onset seizure, Atonic seizure, Bilateral tonic-clonic seizure OMIM:620066
Mitochondrial Dna-Associated Leigh Syndrome
Generalized myoclonic seizure, Seizure, Bilateral tonic-clonic seizure, Infantile spasms ORPHA:255210
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Hip contracture, Sacral dimple, Thoracolumbar scoliosis, Hyperlordosis, Flexion contracture, Elbo... OMIM:619503
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities
Bilateral tonic-clonic seizure, Tonic seizure, Myoclonic seizure OMIM:619512
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal amyotrophy, Ragged-red muscle fibers OMIM:603041
Williams Syndrome
Sacral dimple, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Macroglossia, Vert... ORPHA:904
Turnpenny-Fry Syndrome
Thoracic kyphoscoliosis, Torticollis, Lumbar hyperlordosis, Facial hypotonia OMIM:618371
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Scapular winging, Hyperlordosis ORPHA:73223
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Seizure, Bilateral tonic-clonic seizure with focal onset ORPHA:488627
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Lumbar hyperlordosis, Scoliosis OMIM:616975
Oliver Syndrome
Bilateral tonic-clonic seizure ORPHA:2920
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Bilateral tonic-clonic seizure, Typical absence seizure, Seizure, Generalized myoclonic seizure, ... ORPHA:268261
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Seizure, Bilateral tonic-clonic seizure, Myoclonic seizure OMIM:280000
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Seizure, Bilateral tonic-clonic seizure, Myoclonus OMIM:618426
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Narcolepsy, Seizure ORPHA:293987
Spastic Tetraplegia-Thin Corpus Callosum-Progressive Postnatal Microcephaly Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Myoclonic spasms ORPHA:447997
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Multifocal seizures, Bilateral tonic-clonic seizure, Infantile spasms, Focal-onset seizure, Seizure OMIM:301044
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets OMIM:252010
Sponastrime Dysplasia
Lumbar hyperlordosis, Kyphoscoliosis, Hyperconvex vertebral body endplates, Platyspondyly, Abnorm... ORPHA:93357
X-Linked Intellectual Disability-Cerebellar Hypoplasia-Spondylo-Epiphyseal Dysplasia Syndrome
Bilateral tonic-clonic seizure, Focal-onset seizure, Seizure, Febrile seizure (within the age ran... ORPHA:459070
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Kyphoscoliosis, Scoliosis, Hyperlordosis ORPHA:363700
Isolated Permanent Neonatal Diabetes Mellitus
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:99885
Ogden Syndrome
Generalized-onset seizure, Bilateral tonic-clonic seizure OMIM:300855
African Trypanosomiasis
Narcolepsy, Seizure, Delirium ORPHA:3385
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Bilateral tonic-clonic seizure, Myoclonic spasms ORPHA:73224
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture OMIM:113620
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Bilateral tonic-clonic se... ORPHA:513456
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Myoclonic seizure, Atten... OMIM:620330
Choreoacanthocytosis
Bradyphrenia, Short attention span, Bilateral tonic-clonic seizure, Seizure, Mental deterioration ORPHA:2388
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities
Generalized myoclonic-atonic seizure, Seizure, Bilateral tonic-clonic seizure, Attention deficit ... OMIM:614756
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Holoprosencephaly 14
Bilateral tonic-clonic seizure OMIM:619895
Gaucher Disease
Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:355
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Seizure, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure OMIM:612474
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Rhabdomyolysis, Ragged-red muscle fibers OMIM:124000
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Hemivertebrae, Kyphoscoliosis ORPHA:500150
Orofaciodigital Syndrome Type 2
Bilateral tonic-clonic seizure ORPHA:2751
Doors Syndrome
Bilateral tonic-clonic seizure, Myoclonus, Focal impaired awareness seizure ORPHA:79500
Hartsfield Syndrome
Bilateral tonic-clonic seizure OMIM:615465
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Epileptic spasm, Seizure, Myoclonus, Bilateral tonic-clonic seizure on awakening, Generalized ton... ORPHA:438213
Sotos Syndrome
Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Seizure, Focal impaired ... ORPHA:821
Singleton-Merten Syndrome 1
Muscle fiber atrophy, Tendon rupture, Scoliosis OMIM:182250
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand OMIM:309800
Kabuki Syndrome 1
Seizure, Focal impaired awareness seizure, Bilateral tonic-clonic seizure with focal onset OMIM:147920

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 Mbnl2

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 Mbnl2.

No publications found that use IMPC mice or data for Mbnl2.

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
Mbnl2tm1(KOMP)Mbp Reporter-tagged deletion allele (with selection cassette) Targeting vectors, ES Cells
Mbnl2tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells
Mbnl2tm1a(EUCOMM)Hmgu KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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