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Gene: Trio MGI:1927230

Gene Summary

Name:

triple functional domain (PTPRF interacting)

Synonyms:

6720464I07Rik, Solo

Order Alleles

IMPC Data Collections

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.

Phenotype	Allele	Zyg	Life Stage	P Value
impaired glucose tolerance	Trio^em1(IMPC)H	HET	Early adult	2.29×10^-05
preweaning lethality, complete penetrance	Trio^em1(IMPC)H	HOM	Early adult	0.00
increased neutrophil cell number	Trio^em1(IMPC)H	HET	Early adult	8.45×10^-05

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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.

MicroCT E18.5

Embryo reconstruction

4 Images

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Human diseases caused by Trio 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.

Human diseases associated with Trio (3 diseases)
Human diseases predicted to be associated with Trio (471 diseases)

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

Disease	Matching phenotypes	Source
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging	OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly		OMIM:618825
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome		ORPHA:476126

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

Disease	Matching phenotypes	Source
Maturity-Onset Diabetes Of The Young, Type 7	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:610508
Maturity-Onset Diabetes Of The Young, Type 4	Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:606392
Type 1 Diabetes Mellitus 15	Type I diabetes mellitus, Diabetes mellitus	OMIM:601666
Diabetes Mellitus, Transient Neonatal, 2	Transient neonatal diabetes mellitus, Type II diabetes mellitus	OMIM:610374
Type 1 Diabetes Mellitus 6	Diabetes mellitus	OMIM:601941
Type 1 Diabetes Mellitus 10	Diabetes mellitus	OMIM:601942
Carbimazole Sensitivity	Drug-induced agranulocytosis	OMIM:212060
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Exercise Intolerance, Riboflavin-Responsive	Ragged-red muscle fibers	OMIM:616839
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
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, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Undritz Anomaly	Hypersegmentation of neutrophil nuclei	OMIM:191500
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Lissencephaly, X-Linked, 1	Death in infancy, Gray matter heterotopia, Lissencephaly, Pachygyria, Agenesis of corpus callosum...	OMIM:300067
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Diamond-Blackfan Anemia 18	Erythroid hypoplasia, Steroid-responsive anemia, Neutropenia	OMIM:618310
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Welander Distal Myopathy	Distal amyotrophy, Rimmed vacuoles	OMIM:604454
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
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 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Maturity-Onset Diabetes Of The Young, Type 3	Hyperglycemia, Type II diabetes mellitus, Maturity-onset diabetes of the young	OMIM:600496
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Agenesis of corpus callosum, Abnormality of neuronal mig...	ORPHA:101029
Maturity-Onset Diabetes Of The Young, Type 10	Diabetic ketoacidosis, Hyperglycemia, Diabetes mellitus, Maturity-onset diabetes of the young	OMIM:613370
Myopathy, Vacuolar, With Casq1 Aggregates	Muscle fiber calsequestrin 1-containing inclusion bodies	OMIM:616231
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Myopathy, Myofibrillar, 5	Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting	OMIM:609524
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:619733
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Mitochondrial Myopathy With Diabetes	Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Proximal amyotrophy, Weakness of or...	OMIM:500002
Distal Myopathy, Welander Type	Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Myopathy, Distal upper l...	ORPHA:603
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Death in infancy, Nemaline bodies, Increased variability in muscle fiber diameter, Death in child...	OMIM:620265
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss	Distal amyotrophy, Fiber type grouping	OMIM:614369
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc...	OMIM:619477
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy	OMIM:616209
Specific Granule Deficiency 1	Impaired neutrophil bactericidal activity, Absent neutrophil specific granules, Hyposegmentation ...	OMIM:245480
Myasthenic Syndrome, Congenital, 17	Type 1 muscle fiber predominance	OMIM:616304
Inclusion Body Myositis	Inflammatory myopathy, Rimmed vacuoles	OMIM:147421
Neutrophilia, Hereditary	Splenomegaly, Neutrophilia	OMIM:162830
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo...	ORPHA:457050
Neutropenia, Severe Congenital, 2, Autosomal Dominant	Monocytosis, B lymphocytopenia, Neutropenia	OMIM:613107
Congenital Muscular Dystrophy Without Intellectual Disability	Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Achilles tendon co...	ORPHA:370980
Chudley-Mccullough Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Partial agenesis of the corpus callosum, Pol...	OMIM:604213
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Achilles tendon contractur...	OMIM:620068
Myopathy, Myofibrillar, 3	Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic...	OMIM:609200
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Neutropenia, Severe Congenital, 7, Autosomal Recessive	Neutropenia	OMIM:617014
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Neutropenia, Lethal Congenital, With Eosinophilia	Eosinophilia, Neutropenia	OMIM:257100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Neutropenia, Nonimmune Chronic Idiopathic, Of Adults	Acute myeloid leukemia, Neutropenia	OMIM:607847
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Myopathy, Autophagic Vacuolar, Infantile-Onset	Myopathy, Autophagic vacuoles	OMIM:609500
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Lower Motor Neuron Syndrome With Late-Adult Onset	Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Increased intramuscular fat, I...	ORPHA:276435
Rhabdomyolysis, Susceptibility To, 1	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,...	OMIM:620235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Facial palsy, Pachygyria, Achilles tendon contracture, Elbow flexion contracture, Abnormality of ...	OMIM:608840
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscl...	OMIM:618129
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Miyoshi Muscular Dystrophy 1	Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet...	OMIM:254130
Maturity-Onset Diabetes Of The Young, Type 14	Diabetes mellitus, Elevated hemoglobin A1c, Maturity-onset diabetes of the young	OMIM:616511
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Neutropenia, Severe Congenital, 1, Autosomal Dominant	Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr...	OMIM:202700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:...	OMIM:253601
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619101
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Distal amyotrophy, Type 1 muscle fiber predominance, Increased variability in mu...	OMIM:619042
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Myofibrillar Myopathy 11	Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib...	OMIM:619178
Sandhoff Disease, Adult Form	Muscle fiber atrophy, Upper limb muscle weakness, Proximal muscle weakness in lower limbs	ORPHA:309169
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Myopathy, Distal, 1	Toe extensor amyotrophy, Tibialis anterior muscle atrophy, Facial palsy, Ragged-red muscle fibers...	OMIM:160500
Immunodeficiency 53	Impaired lymphocyte transformation with phytohemagglutinin, Neutrophilia	OMIM:617585
Muscular Dystrophy, Congenital Merosin-Deficient, 1A	Increased endomysial connective tissue, Flexion contracture, Congenital muscular dystrophy, Abnor...	OMIM:607855
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2	EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy	OMIM:609283
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Myopathy, X-Linked, With Postural Muscle Atrophy	Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring contractures, S...	OMIM:300696
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant	Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap...	OMIM:608358
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
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Congenital Myopathy 14	Hip contracture, Death in infancy, Flexion contracture, Elbow flexion contracture, Increased vari...	OMIM:618414
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Abnormal muscle fiber morphology, Proximal muscle weakne...	ORPHA:598
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Charcot-Marie-Tooth Disease, Recessive Intermediate A	Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Type 1 muscle fiber predo...	OMIM:608340
Band Heterotopia	Subcortical band heterotopia, Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyr...	OMIM:600348
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Merrf	Myopathy, Ragged-red muscle fibers	ORPHA:551
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1	Facial palsy, Flexion contracture, Shoulder girdle muscle weakness, Muscular dystrophy, Muscle fi...	OMIM:603511
Congenital Myopathy 9B, Proximal, With Minicore Lesions	Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f...	OMIM:618823
Muscular Dystrophy, Limb-Girdle, Type 1H	Calf muscle hypertrophy, Muscular dystrophy, Shoulder girdle muscle atrophy, Centrally nucleated ...	OMIM:613530
Finnish Upper Limb-Onset Distal Myopathy	Fatty replacement of skeletal muscle, Intrinsic hand muscle atrophy, Amyotrophy of ankle musculat...	ORPHA:399086
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Congenital Myopathy 23	Skeletal muscle atrophy, Scapular winging, Flexion contracture, Facial diplegia, Type 1 muscle fi...	OMIM:609285
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Myopathy, Myofibrillar, 2	Limb-girdle muscle weakness, Quadriceps muscle weakness, Skeletal muscle autophagosome accumulati...	OMIM:608810
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Myopathy, Distal, 3	Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han...	OMIM:610099
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi...	OMIM:160565
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1	Scapular winging, Pelvic girdle muscle atrophy, Pelvic girdle amyotrophy, Facial palsy, Myopathy,...	OMIM:167320
Muscle Filaminopathy	Scapular winging, Fatty replacement of skeletal muscle, Abnormality of masticatory muscle, EMG: m...	ORPHA:171445
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
X-Linked Severe Congenital Neutropenia	Monocytopenia, Neutropenia	ORPHA:86788
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Thenar muscle atrophy, Fatty replacement ...	OMIM:256030
Myoclonic Epilepsy Associated With Ragged-Red Fibers	Myopathy, Ragged-red muscle fibers	OMIM:545000
Nemaline Myopathy 5C, Autosomal Dominant	Skeletal muscle atrophy, Scapular winging, Quadriceps muscle weakness, Achilles tendon contractur...	OMIM:620389
Glycogen Storage Disease Ixd	Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn...	OMIM:300559
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber...	OMIM:605355
Myopathy, Centronuclear, 4	Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers	OMIM:614807
Arthrogryposis Multiplex Congenita 6	Death in infancy, Death in childhood, Neonatal death, Increased variability in muscle fiber diame...	OMIM:619334
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Partial agenesis of the corpus callosum, Simplified gyral pattern, M...	OMIM:616212
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Myopathy, X-Linked, With Excessive Autophagy	Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ...	OMIM:310440
Mitochondrial Myopathy, Infantile, Transient	Facial palsy, Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen...	OMIM:500009
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Myopathy, Calf muscle hy...	ORPHA:86812
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:617070
Combined Oxidative Phosphorylation Deficiency 6	Skeletal muscle atrophy, Ragged-red muscle fibers	OMIM:300816
Anemia, Sideroblastic, 5	Thrombocytopenia, Hypochromic microcytic anemia, Reduced hematocrit, Neutropenia, Anemia	OMIM:619523
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive	Fiber type grouping, Distal lower limb muscle weakness, Interosseus muscle atrophy, Thenar muscle...	OMIM:619903
Distal Myotilinopathy	EMG: myopathic abnormalities, Distal amyotrophy, Multiple joint contractures, Abnormal muscle fib...	ORPHA:98911
Dpm3-Cdg	Calf muscle hypertrophy, Rimmed vacuoles, Muscular dystrophy, Pelvic girdle muscle weakness	ORPHA:263494
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Lateral ventricle dilatation, Increased variability in muscle fiber diameter	OMIM:616816
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Congenital Myopathy 5 With Cardiomyopathy	Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa...	OMIM:611705
Myasthenic Syndrome, Congenital, 12	Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy	OMIM:610542
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
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lateral ventricle dilatation, Lissencephaly,...	ORPHA:300573
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased variability i...	OMIM:613157
Myopathy, Myofibrillar, 4	Myofibrillar myopathy, EMG: myopathic abnormalities, Autophagic vacuoles, Muscle fiber splitting	OMIM:609452
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Type 1...	ORPHA:171442
Hypogonadism, Male, With Mental Retardation And Skeletal Anomalies	Glucose intolerance, Hyperglycemia	OMIM:307500
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Combined Oxidative Phosphorylation Deficiency 8	Neonatal death, Increased variability in muscle fiber diameter, Death in infancy, Death in childhood	OMIM:614096
Congenital Myopathy With Myasthenic-Like Onset	Scapular winging, Multiple joint contractures, Rhabdomyolysis, Myopathy, Type 1 muscle fiber pred...	ORPHA:424107
Central Core Disease	Multiple joint contractures, Myopathy, Type 1 muscle fiber predominance, Pelvic girdle muscle wea...	ORPHA:597
Creatine Phosphokinase, Elevated Serum	Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa...	OMIM:123320
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)	Ragged-red muscle fibers, Limb muscle weakness, Facial diplegia, Generalized amyotrophy, Death in...	OMIM:609560
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
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
Hereditary Continuous Muscle Fiber Activity	Congenital diaphragmatic hernia, Type 1 muscle fiber predominance	ORPHA:972
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle...	OMIM:620310
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Congenital Myasthenic Syndromes With Glycosylation Defect	Scapular winging, Facial palsy, Generalized weakness of limb muscles, Limb-girdle muscle weakness...	ORPHA:353327
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Neutropenia, Severe Congenital, X-Linked	Monocytopenia, Decreased CD4:CD8 ratio, Neutropenia	OMIM:300299
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive	Death in early adulthood, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers...	OMIM:255160
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Amish Nemaline Myopathy	Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina...	ORPHA:98902
Congenital Myopathy 3 With Rigid Spine	Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variabil...	OMIM:602771
Autosomal Recessive Primary Microcephaly	Gray matter heterotopia, Pachygyria, Agenesis of corpus callosum	ORPHA:2512
Monosomy 7 Myelodysplasia And Leukemia Syndrome 2	Acute myeloid leukemia, Pancytopenia, Anemia, Increased mean corpuscular volume, Neutropenia, Thr...	OMIM:619041
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Diaph1-Related Sensorineural Hearing Loss-Thrombocytopenia Syndrome	Iron deficiency anemia, Thrombocytopenia, Increased mean platelet volume, Neutropenia	ORPHA:494444
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency	Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr...	ORPHA:254864
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Centrally nucleated skeletal muscle fibers, Flexion contracture, Increased variability in muscle ...	OMIM:618484
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,...	OMIM:616812
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Increased variability in muscle fiber diameter, Muscular dystrophy, Motheaten muscle fibers, Musc...	OMIM:226670
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Type II lissencephaly, Dysgyria	ORPHA:352682
Mitochondrial Complex I Deficiency, Nuclear Type 21	Myopathy, Ragged-red muscle fibers	OMIM:618242
Congenital Muscular Dystrophy With Cerebellar Involvement	Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Reduced muscle fiber alph...	ORPHA:370959
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Abnormal cortical gyration, Flexion contracture...	OMIM:616867
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Kearns-Sayre Syndrome	Skeletal muscle atrophy, Ragged-red muscle fibers	ORPHA:480
Felty Syndrome	Splenomegaly, Neutropenia	OMIM:134750
Mitochondrial Complex Iii Deficiency, Nuclear Type 4	Ragged-red muscle fibers	OMIM:615159
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Abnormal muscle fiber protein expression	ORPHA:330054
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in infancy, Subcortical heterotopia, Agyria, Partial agenesis of the corpus callosum, Gray ...	OMIM:614643
Intermediate Nemaline Myopathy	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ...	ORPHA:171433
Combined Oxidative Phosphorylation Deficiency 28	Ragged-red muscle fibers	OMIM:616794
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Partial agenesis of the corpus callosum, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Amyotrophic Lateral Sclerosis 27, Juvenile	Scapular winging, Quadriceps muscle atrophy, Angulated muscle fibers, Intrinsic hand muscle atrop...	OMIM:620285
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6	Skeletal muscle atrophy, Plantar flexion contracture, Arthrogryposis-like hand anomaly, Distal ar...	OMIM:620011
Bethlem Myopathy	Scapular winging, Multiple joint contractures, Reduced muscle collagen VI, Interphalangeal joint ...	ORPHA:610
Congenital Myopathy 24	Scapular winging, Nemaline bodies, Facial palsy, Type 1 muscle fiber predominance	OMIM:617336
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis	Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos...	OMIM:608203
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Walker-Warburg Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Abnormality of neuronal migration, Macrogyri...	ORPHA:899
Subependymal Nodular Heterotopia	Gray matter heterotopia, Partial agenesis of the corpus callosum, Polymicrogyria, Abnormality of ...	ORPHA:101030
Glutathionuria	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:231950
Benign Samaritan Congenital Myopathy	Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers	ORPHA:324581
Emery-Dreifuss Muscular Dystrophy 1, X-Linked	Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ...	OMIM:310300
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Limb muscle weakness, In...	ORPHA:486815
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Adult-Onset Distal Myopathy Due To Vcp Mutation	Scapular winging, Abnormality of the musculature of the lower limbs, Fatty replacement of skeleta...	ORPHA:329478
Autosomal Dominant Centronuclear Myopathy	Proximal muscle weakness in upper limbs, Miscarriage, Centrally nucleated skeletal muscle fibers,...	ORPHA:169189
Thrombocytopenia 5	B Acute Lymphoblastic Leukemia, Anemia, Increased mean corpuscular volume, Neutropenia, Thrombocy...	OMIM:616216
Scapuloperoneal Spinal Muscular Atrophy	Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle...	OMIM:181405
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression	Rhabdomyolysis, Weakness of facial musculature, Ragged-red muscle fibers	OMIM:618416
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Agenesis of corpus callosum, Abnormality of neuronal migration, Microlis...	ORPHA:89844
Adult Idiopathic Neutropenia	Abnormal neutrophil count, Monocytosis, Neutropenia, Monocytopenia, Lymphopenia	ORPHA:2688
Greig Cephalopolysyndactyly Syndrome	Camptodactyly of toe, Joint contracture of the hand, Agenesis of corpus callosum, Abnormal muscle...	OMIM:175700
Striatonigral Degeneration, Infantile, Mitochondrial	Ragged-red muscle fibers	OMIM:500003
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98855
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Glycogen Storage Disease Due To Aldolase A Deficiency	Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S...	ORPHA:57
Postsynaptic Congenital Myasthenic Syndromes	Skeletal muscle atrophy, Facial palsy, Triceps weakness, Weakness of long finger extensor muscles...	ORPHA:98913
Hemimegalencephaly	Gray matter heterotopia, Pachygyria, Polymicrogyria	ORPHA:99802
Classic Multiminicore Myopathy	Absent muscle fiber merosin, Multiple joint contractures, Increased muscle lipid content, General...	ORPHA:324604
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita	Arthrogryposis multiplex congenita, Increased endomysial connective tissue, Flexion contracture, ...	ORPHA:178148
Autosomal Recessive Progressive External Ophthalmoplegia	Scapular winging, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Myopathy, Muscle ...	ORPHA:254886
Myoglobinuria, Recurrent	Ragged-red muscle fibers	OMIM:550500
Immunodeficiency 14B, Autosomal Recessive	Neutrophilia, Leukocytosis, Monocytosis, B lymphocytopenia, Thrombocytosis	OMIM:619281
Myopathy, Centronuclear, 2	Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Flexion contracture, ...	OMIM:255200
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Flexion contracture, Muscle fiber necrosis...	OMIM:254090
Combined Oxidative Phosphorylation Deficiency 49	Ragged-red muscle fibers	OMIM:619024
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Type II lissencephaly	OMIM:615191
Myopathy, Myofibrillar, 8	Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon contracture, Joint ...	OMIM:617258
X-Linked Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98863
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Death in infancy, Abnormality of skeletal muscle fiber size, Increased e...	OMIM:620278
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Ragged-red muscle fibers, Flexion contracture, Left ventricular noncompaction, Increased intramyo...	OMIM:252011
Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Proximal muscle weakness in upper limbs, Scapular winging, Achilles tendon contracture, Type 1 mu...	ORPHA:98853
Congenital Myopathy 4A, Autosomal Dominant	Type 1 fibers relatively smaller than type 2 fibers, Limb joint contracture, Facial palsy, Centra...	OMIM:255310
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Elbow contracture, Knee flex...	OMIM:617201
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes	Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers	OMIM:540000
Spastic Paraplegia Type 7	Upper limb muscle weakness, Lower limb hypertonia, Ragged-red muscle fibers, Lower limb muscle we...	ORPHA:99013
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Combined Oxidative Phosphorylation Defect Type 27	Ragged-red muscle fibers	ORPHA:477774
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue	ORPHA:663
Spinocerebellar Ataxia 28	Lower limb hypertonia, Ragged-red muscle fibers	OMIM:610246
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10	Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber...	OMIM:620080
Muscular Dystrophy, Congenital, Megaconial Type	Myopathy, Increased endomysial connective tissue, Facial palsy, Muscular dystrophy	OMIM:602541
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ragged-red muscle fibers, Generalized amyotrophy	OMIM:613561
Chiari Malformation Type Ii	Gray matter heterotopia, Limb muscle weakness, Agenesis of corpus callosum	OMIM:207950
Immune-Mediated Necrotizing Myopathy	Skeletal muscle atrophy, Scapular winging, Myositis, Proximal muscle weakness in lower limbs, Myo...	ORPHA:206569
Autosomal Recessive Centronuclear Myopathy	Hip contracture, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Faci...	ORPHA:169186
Myotubular Myopathy With Abnormal Genital Development	Neonatal death, Myopathy, Death in infancy, Centrally nucleated skeletal muscle fibers	OMIM:300219
Immunodeficiency 32B	Neutrophilia, Eosinophilia, Splenomegaly, Anemia, Impaired oxidative burst, Monocytopenia, Thromb...	OMIM:226990
King-Denborough Syndrome	Centrally nucleated skeletal muscle fibers, Type 1 muscle fiber predominance, Muscle fiber atroph...	OMIM:619542
Hypokalemic Periodic Paralysis	Increased intramyocellular lipid droplets, Abnormal muscle fiber morphology	ORPHA:681
Congenital Myopathy 22A, Classic	Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles tendon co...	OMIM:620351
Myopathy, Centronuclear, 5	Hip contracture, Weakness of facial musculature, Centrally nucleated skeletal muscle fibers	OMIM:615959
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ragged-red muscle fibers, Generalized amyotrophy, Proximal amyotrophy	OMIM:615084
Developmental Delay With Variable Neurologic And Brain Abnormalities	Gray matter heterotopia, Camptodactyly, Knee flexion contracture	OMIM:619694
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Rimmed vacuoles, Skeletal muscle autophagosome accumulation, Centrally nucleated skeletal muscle ...	OMIM:619518
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
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
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:164180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Lateral ventricle dilatation, Muscular dystrophy, Increased endomysial conne...	OMIM:613154
Neuromuscular Oculoauditory Syndrome	Periventricular heterotopia, Knee flexion contracture, Calf muscle hypertrophy, Agenesis of corpu...	OMIM:618733
Combined Oxidative Phosphorylation Deficiency 24	Skeletal muscle atrophy, Ragged-red muscle fibers, Myopathy, Weakness of facial musculature, Agen...	OMIM:616239
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Abnormality of neuronal migration	OMIM:300049
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dys...	OMIM:613150
Lethal Congenital Contracture Syndrome 5	Death in infancy, Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscl...	OMIM:615368
Marinesco-Sjogren Syndrome	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myopath...	OMIM:248800
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)	Ragged-red muscle fibers	OMIM:613662
Carnitine Palmitoyltransferase Ii Deficiency	Rhabdomyolysis, Abnormality of neuronal migration, Myopathy, Pachygyria, Agenesis of corpus callo...	ORPHA:157
Mody	Elevated hemoglobin A1c, Transient neonatal diabetes mellitus, Insulin-resistant diabetes mellitu...	ORPHA:552
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ...	OMIM:615418
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Fatty replacement of skeletal muscle, Generalized amyotrophy, Increased variability in muscle fib...	ORPHA:52430
Congenital Disorder Of Deglycosylation 2	Partial agenesis of the corpus callosum, Gray matter heterotopia, Macroglossia, Hypothalamic hama...	OMIM:619775
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy	ORPHA:352447
Anemia, X-Linked, With Or Without Neutropenia And/Or Platelet Abnormalities	Macrocytic anemia, Anisocytosis, Elliptocytosis, Poikilocytosis, Neutropenia, Abnormal reticulocy...	OMIM:300835
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Vocal Cord And Pharyngeal Distal Myopathy	Abnormal morphology of musculature of pharynx, Abnormality of the calf musculature, Inflammatory ...	ORPHA:600
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Muscle fiber atrophy, Flexion contracture	OMIM:620240
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness	OMIM:616479
Leber Congenital Amaurosis	Abnormality of neuronal migration	ORPHA:65
Neu-Laxova Syndrome	Skeletal muscle atrophy, Abnormal cortical gyration, Flexion contracture, Abnormality of neuronal...	ORPHA:2671
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Trappc11-Related Limb-Girdle Muscular Dystrophy R18	Muscle fiber atrophy, Myopathy, Limb-girdle muscular dystrophy, Muscular dystrophy	ORPHA:369840
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2063
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology	ORPHA:3068
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Desmosterolosis	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:35107
Hypomelanosis Of Ito	Gray matter heterotopia	OMIM:300337
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Death in infancy, Elbow flexion contracture, Increased muscle lipid content, Abnormality of neuro...	OMIM:608836
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh	Triceps weakness, Intrinsic hand muscle atrophy, Foot dorsiflexor weakness, Centrally nucleated s...	OMIM:619574
Deafness-Lymphedema-Leukemia Syndrome	Abnormal neutrophil count, Splenomegaly, Leukocytosis, Acute leukemia, Myeloproliferative disorde...	ORPHA:3226
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss	Ragged-red muscle fibers	ORPHA:1349
Tetrasomy 18P	Abnormality of neuronal migration	ORPHA:3307
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Simplified gyral pattern, Gray matter heterotopia, Colpocephaly, Lissencephaly, Agenesis of corpu...	OMIM:615219
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Agenesis of corpus callosum, Periventricular heterotopia	ORPHA:255138
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Glycogen Storage Disease Xv	Scapular winging, Type 1 muscle fiber predominance	OMIM:613507
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
Vici Syndrome	Gray matter heterotopia, Death in infancy, Agenesis of corpus callosum	ORPHA:1493
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form	Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content	ORPHA:228302
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Lateral ventricle dilatation, Polymicrogyria	OMIM:617397
Myopathy, Epilepsy, And Progressive Cerebral Atrophy	Death in infancy, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenital contr...	OMIM:619036
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	EMG: myopathic abnormalities, Ragged-red muscle fibers, Limb muscle weakness	OMIM:609286
Neonatal Adrenoleukodystrophy	Abnormality of neuronal migration	ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Polymicrogyria, Muscular dystrophy, Agyria	OMIM:616538
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased muscle mass, Ragged-red muscle fibers, Foot dorsiflexor weakness, Abnormality of the ex...	ORPHA:298
Edinburgh Malformation Syndrome	Abnormality of neuronal migration	ORPHA:1895
Peroxisome Biogenesis Disorder 13A (Zellweger)	Neonatal death, Gray matter heterotopia, Polymicrogyria	OMIM:614887
Hypotonia-Cystinuria Syndrome	Ragged-red muscle fibers, Facial palsy	OMIM:606407
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Myositis, Absent muscle fiber merosin, Facial palsy, Flexion contracture, Macroglossia, Lissencep...	ORPHA:258
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Colpocephaly, Distal arthrogryposis, Periventricular heterotopia	OMIM:619833
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Joubert Syndrome 30	Gray matter heterotopia	OMIM:617622
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Lateral ventricle dilatation, Periventricular heterotopia	OMIM:614105
Systemic Mastocytosis With Associated Hematologic Neoplasm	Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis...	ORPHA:98849
Neurocutaneous Melanocytosis	Death in infancy, Abnormality of neuronal migration	ORPHA:2481
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Thanatophoric Dysplasia Type 2	Abnormality of neuronal migration	ORPHA:93274
Snakebite Envenomation	Rhabdomyolysis, Muscle fiber necrosis	ORPHA:449285
Li-Ghorbani-Weisz-Hubshman Syndrome	Periventricular heterotopia	OMIM:618974
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Scapular winging, Ragged-red muscle fibers, Generalized limb muscle atrophy	OMIM:600462
Juvenile Amyotrophic Lateral Sclerosis	Skeletal muscle atrophy, Upper-limb joint contracture, Distal amyotrophy, Lower-limb joint contra...	ORPHA:300605
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red...	OMIM:607459
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Lissenceph...	ORPHA:2211
Multiple Acyl-Coa Dehydrogenase Deficiency	Skeletal muscle atrophy, Scapular winging, Rhabdomyolysis, Gray matter heterotopia, Increased int...	ORPHA:26791
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size	ORPHA:2348
Pparg-Related Familial Partial Lipodystrophy	Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus...	ORPHA:79083
Galloway-Mowat Syndrome	Pachygyria, Camptodactyly of finger, Abnormality of neuronal migration	ORPHA:2065
Coffin-Lowry Syndrome	Skeletal muscle atrophy, Death in early adulthood, Abnormality of neuronal migration	ORPHA:192
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Ragged-red muscle fibers, Agenesis of corpus callosum	OMIM:614924
Thanatophoric Dysplasia, Type I	Neonatal death, Gray matter heterotopia	OMIM:187600
Staphylococcal Necrotizing Pneumonia	Diabetes mellitus, Leukopenia, Leukocytosis, Neutrophilia	ORPHA:36238
16P13.11 Microdeletion Syndrome	Agenesis of corpus callosum, Camptodactyly of finger, Abnormality of neuronal migration	ORPHA:261236
Van Maldergem Syndrome 1	Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Camptodactyly, P...	OMIM:601390
Bilateral Perisylvian Polymicrogyria	Flexion contracture, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal mig...	ORPHA:98889
Alkuraya-Kucinskas Syndrome	Gray matter heterotopia, Arthrogryposis multiplex congenita, Lissencephaly, Camptodactyly	OMIM:617822
Danon Disease	Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,...	OMIM:300257
Thanatophoric Dysplasia	Gray matter heterotopia	ORPHA:2655
Ehlers-Danlos Syndrome, Classic-Like	Proximal amyotrophy, Muscle fiber splitting	OMIM:606408
Radio-Tartaglia Syndrome	Gray matter heterotopia, Agenesis of corpus callosum	OMIM:619312
3C Syndrome	Death in infancy, Abnormality of neuronal migration	ORPHA:7
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Interhypothalamic adhesion, Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618929
Alg11-Cdg	Gray matter heterotopia, Limb hypertonia	ORPHA:280071
Cerebrofacioarticular Syndrome	Gray matter heterotopia, Dysplastic corpus callosum, Agenesis of corpus callosum, Camptodactyly	ORPHA:314679
Polymyositis	Abnormal muscle fiber morphology	ORPHA:732
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Brain abscess, Neutrophilia, Liver abscess, Anemia	ORPHA:54251
Bohring-Opitz Syndrome	Gray matter heterotopia, Flexion contracture, Agenesis of corpus callosum, Camptodactyly	OMIM:605039
Congenital Myasthenic Syndrome	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Limb-girdle muscle weakness, Distal amyotrophy, Muscle fiber atrophy, Arthrogryposis multiplex co...	ORPHA:98914
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Agenesis of corpus callosum, Abnormality of neuronal migration	ORPHA:228308
Lipodystrophy, Congenital Generalized, Type 4	Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal muscle hypertrophy, Mus...	OMIM:613327
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormality of neuronal migration	ORPHA:2518
Periventricular Nodular Heterotopia	Periventricular heterotopia	ORPHA:98892
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Neonatal death, Frontal polymicrogyria, Pachygyria, Gray matter heterotopia	OMIM:620024
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Miller-Dieker Lissencephaly Syndrome	Joint contracture of the hand, Gray matter heterotopia, Lissencephaly, Camptodactyly, Pachygyria,...	OMIM:247200
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia, Agenesis of corpus callosum, Rhabdomyosarcoma	OMIM:276300
Myasthenia, Limb-Girdle, Autoimmune	Type 2 muscle fiber atrophy, Proximal amyotrophy	OMIM:159400
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Scapular winging, Periventricular heterotopia	OMIM:618870
Joubert Syndrome	Polymicrogyria, Abnormality of neuronal migration	ORPHA:475
Neutral Lipid Storage Myopathy	Hand muscle weakness, Fatty replacement of skeletal muscle, Generalized limb muscle atrophy, Myop...	ORPHA:98908
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hip contracture, Death in infancy, Shoulder flexion contracture, Abnormal cortical gyration, Part...	OMIM:210710
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Distal amyotrophy, Increased variability in muscle fiber diame...	OMIM:164310
Psoriasis 14, Pustular	Leukocytosis, Neutrophilia	OMIM:614204
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Multiple joint contractures, Camptodactyly of finger, Ankle flexion contracture, Periventricular ...	ORPHA:468631
Coenzyme Q10 Deficiency, Primary, 1	Ragged-red muscle fibers, Decreased level of coenzyme Q10 in skeletal muscle	OMIM:607426
Acute Generalized Exanthematous Pustulosis	Leukocytosis, Neutrophilia, Eosinophilia, Neutropenia	ORPHA:293173
Man1B1-Cdg	Periventricular heterotopia	ORPHA:397941
Peroxisome Biogenesis Disorder 1A (Zellweger)	Gray matter heterotopia, Macroglossia, Polymicrogyria, Death in childhood	OMIM:214100
Native American Myopathy	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Congenital contracture, Campt...	ORPHA:168572
6Q Terminal Deletion Syndrome	Periventricular heterotopia, Abnormality of neuronal migration, Gray matter heterotopia, Colpocep...	ORPHA:75857
Overlap Myositis	Perifascicular muscle fiber atrophy, Proximal muscle weakness in upper limbs, Distal lower limb m...	ORPHA:206572
Kearns-Sayre Syndrome	Ragged-red muscle fibers	OMIM:530000
Early-Onset Autosomal Dominant Alzheimer Disease	Deposits immunoreactive to beta-amyloid protein	ORPHA:1020
Hydrolethalus Syndrome 1	Abnormal cortical gyration, Gray matter heterotopia, Stillbirth, Agenesis of the diaphragm, Agene...	OMIM:236680
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency	Decreased muscle mass, Elbow flexion contracture, EMG: myopathic abnormalities, Wrist drop, Muscl...	ORPHA:1900
Opitz-Kaveggia Syndrome	Multiple joint contractures, Partial agenesis of the corpus callosum, Gray matter heterotopia, Ca...	OMIM:305450
Joubert Syndrome With Oculorenal Defect	Abnormality of neuronal migration	ORPHA:2318
Pagod Syndrome	Death in infancy, Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:991
9Q21.13 Microdeletion Syndrome	Gray matter heterotopia	ORPHA:531151
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Neutrophilia, Leukocytosis, Increased proportion of CD4-positive T cells	OMIM:617099
Autosomal Dominant Progressive External Ophthalmoplegia	Facial palsy, Quadriceps muscle weakness, Ragged-red muscle fibers, Limb muscle weakness, Facial ...	ORPHA:254892
Glycogen Storage Disease Xii	Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting	OMIM:611881
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Agenesis of corpus callosum, Periventricular heterotopia	OMIM:618476
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Agenesis of corpus callosum, Muscular dystrophy, Type II lissencephaly	OMIM:615287
Cntnap2-Related Developmental And Epileptic Encephalopathy	Abnormality of neuronal migration	ORPHA:163681
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia	OMIM:618797
Thanatophoric Dysplasia Type 1	Gray matter heterotopia	ORPHA:1860
Thyrotoxic Periodic Paralysis	Rhabdomyolysis, Lower limb muscle weakness, Increased intramyocellular lipid droplets, Abnormal m...	ORPHA:79102
Vici Syndrome	Left ventricular hypertrophy, Myopathy, Agenesis of corpus callosum, Gray matter heterotopia	OMIM:242840
16Q24.3 Microdeletion Syndrome	Colpocephaly, Periventricular heterotopia	ORPHA:261250
Orofaciodigital Syndrome Type 6	Abnormality of neuronal migration, Hypothalamic hamartoma	ORPHA:2754
Koolen-De Vries Syndrome	Gray matter heterotopia, Hypotrophy of the small hand muscles	OMIM:610443
Melas	Myopathy, Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Agenesis of corpus ca...	ORPHA:550
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Gray matter heterotopia	OMIM:608624
Orofaciodigital Syndrome Xvi	Gray matter heterotopia	OMIM:617563
Primary Triglyceride Deposit Cardiomyovasculopathy	Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali...	ORPHA:565612
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Increased...	ORPHA:17
Van Maldergem Syndrome 2	Gray matter heterotopia, Periventricular nodular heterotopia, Subcortical band heterotopia	OMIM:615546
Acromelic Frontonasal Dysostosis	Gray matter heterotopia, Periventricular nodular heterotopia, Agenesis of corpus callosum	OMIM:603671
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Death in early adulthood, Distal amyotrophy, Ragged-red muscle fibers	OMIM:603041
Aicardi Syndrome	Partial agenesis of the corpus callosum, Gray matter heterotopia, Lateral ventricle dilatation, P...	OMIM:304050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Gray matter heterotopia, Macroglossia, Type 1 muscle fiber atrophy, Agenesis of corpus callosum	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Gray matter heterotopia, Macroglossia, Type 1 muscle fiber atrophy, Agenesis of corpus callosum	ORPHA:352665
Nijmegen Breakage Syndrome	Skeletal muscle atrophy, Abnormality of neuronal migration, Rhabdomyosarcoma	ORPHA:647
Pneumocystosis	Abnormal neutrophil count	ORPHA:723
Holoprosencephaly	Abnormality of neuronal migration, Congenital diaphragmatic hernia	ORPHA:2162
Joubert Syndrome With Hepatic Defect	Abnormality of neuronal migration	ORPHA:1454
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Macroglossia	ORPHA:453499
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Flexion contracture of finger, Abnormality of neuronal migration, Ankle flexion contracture	ORPHA:464311
Genitourinary And/Or Brain Malformation Syndrome	Dysplastic corpus callosum, Gray matter heterotopia, Colpocephaly, Polymicrogyria, Agenesis of co...	OMIM:618820
Holoprosencephaly 14	Gray matter heterotopia, Partial agenesis of the corpus callosum, Periventricular heterotopia	OMIM:619895
Orofaciodigital Syndrome I	Gray matter heterotopia, Agenesis of corpus callosum, Abnormal cortical gyration, Hypothalamic ha...	OMIM:311200
Mitochondrial Complex I Deficiency, Nuclear Type 1	Skeletal muscle atrophy, Ragged-red muscle fibers, Increased intramyocellular lipid droplets, Dea...	OMIM:252010
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Fontaine Progeroid Syndrome	Death in infancy, Periventricular heterotopia, Hypoplasia of the abdominal wall musculature, Gray...	OMIM:612289
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Neonatal death, Ragged-red muscle fibers, Rhabdomyolysis	OMIM:124000
Periventricular Nodular Heterotopia 9	Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Mitochondrial Dna-Associated Leigh Syndrome	Ragged-red muscle fibers	ORPHA:255210
Choreoacanthocytosis	Peroneal muscle atrophy, Myopathy, Distal amyotrophy, Lateral ventricle dilatation, Muscle fiber ...	ORPHA:2388
Genitopatellar Syndrome	Hip contracture, Periventricular heterotopia, Knee flexion contracture, Colpocephaly, Pachygyria,...	OMIM:606170
Smith-Lemli-Opitz Syndrome	Death in infancy, Partial agenesis of the corpus callosum, Colpocephaly, Periventricular heterotopia	OMIM:270400
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Orofaciodigital Syndrome Xiv	Partial agenesis of the corpus callosum, Polymicrogyria, Simplified gyral pattern, Periventricula...	OMIM:615948
Arima Syndrome	Gray matter heterotopia	OMIM:243910
Proteus Syndrome	Gray matter heterotopia, Myofibrillar myopathy, Decreased muscle mass	ORPHA:744
Orofaciodigital Syndrome Type 14	Partial agenesis of the corpus callosum, Periventricular heterotopia	ORPHA:434179
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Periventricular heterotopia, Flexion contracture, Lateral ventricle dilatation, Camptodactyly, Po...	ORPHA:261537
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Periventricular heterotopia, Flexion contracture, Lateral ventricle dilatation, Camptodactyly, Po...	ORPHA:261552
Mowat-Wilson Syndrome	Periventricular heterotopia, Flexion contracture, Camptodactyly, Polymicrogyria, Agenesis of corp...	ORPHA:2152
Singleton-Merten Syndrome 1	Muscle fiber atrophy, Tendon rupture	OMIM:182250
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Scapular winging	OMIM:617061
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly		OMIM:618825
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome		ORPHA:476126

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 Trio

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 Trio.

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

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
Trio^em1(IMPC)H	Exon Deletion	Mice
Trio^{tm1e(KOMP)Mbp}	Targeted, non-conditional allele	ES Cells
Trio^{tm1a(KOMP)Mbp}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Trio^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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