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Gene: Lama2 MGI:99912

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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:
laminin, alpha 2
Synonyms:
merosin,  mer

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 Lama2 mutations

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

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

The table below shows human diseases associated to Lama2 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... OMIM:607855
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to... ORPHA:258

The table below shows human diseases predicted to be associated to Lama2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Alpha-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R3
Waddling gait, Thoracic scoliosis, Scapular winging, Calf muscle pseudohypertrophy, Proximal musc... ORPHA:62
Exercise Intolerance, Riboflavin-Responsive
Ragged-red muscle fibers OMIM:616839
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 9
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Ankle flexion contracture, Limb-gi... OMIM:613818
Distal Anoctaminopathy
Waddling gait, Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal m... ORPHA:399096
Muscular Dystrophy, Adult-Onset, With Leukoencephalopathy
Muscular dystrophy, Muscle weakness, Gait ataxia OMIM:253590
Testicular Microlithiasis
Testicular microlithiasis OMIM:610441
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Gowers sign, Generalized... OMIM:613723
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Waddling gait, Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Neck flexor weakness,... OMIM:254110
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Gowers sign, Scoliosi... OMIM:613204
Calpain-3-Related Limb-Girdle Muscular Dystrophy R1
Scapular winging, Pelvic girdle amyotrophy, Ankle flexion contracture, Proximal muscle weakness, ... ORPHA:267
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ... ORPHA:2593
Posterior Column Ataxia
Impaired vibratory sensation, Ataxia, Impaired proprioception, Scoliosis OMIM:176250
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Neck flexor weakness, Facial pals... OMIM:616852
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Distal Myopathy With Anterior Tibial Onset
Absent muscle fiber dysferlin, Somatic sensory dysfunction, Tibialis muscle weakness, Limb-girdle... ORPHA:178400
Fkrp-Related Limb-Girdle Muscular Dystrophy R9
Waddling gait, Reduced muscle fiber alpha dystroglycan, Proximal muscle weakness, Calf muscle hyp... ORPHA:34515
Facioscapulohumeral Muscular Dystrophy 2, Digenic
Scapular winging, Facial palsy, Beevor's sign, Pelvic girdle muscle weakness, Foot dorsiflexor we... OMIM:158901
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Abdominal wall muscle weakness, Centrally nucleated skeletal muscle ... OMIM:618129
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Waddling gait, Skeletal muscle atrophy, Distal muscle weakness, Ankle flexion contracture, Centra... OMIM:617760
Muscular Dystrophy, Mabry Type
Late-onset muscular dystrophy OMIM:310000
Inclusion Body Myopathy And Brain White Matter Abnormalities
Low back pain, Scapular winging, Proximal muscle weakness in upper limbs, Abdominal wall muscle w... OMIM:619733
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3
Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d... OMIM:609115
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
Polyglucosan Body Myopathy 2
Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Distal muscle ... OMIM:616199
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 4
Hypoglycosylation of alpha-dystroglycan, Peroneal muscle weakness, Proximal muscle weakness, Hype... OMIM:611588
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Scapular winging, Distal muscle weakness, Autophagic vacuoles, Centrally nucleated skeletal muscl... OMIM:608423
Muscular Dystrophy, Congenital, With Rapid Progression
Congenital muscular dystrophy, Muscle weakness OMIM:254100
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P... OMIM:601954
Miyoshi Muscular Dystrophy 1
Distal muscle weakness, Distal amyotrophy, Tip-toe gait, Muscular dystrophy, Lower limb muscle we... OMIM:254130
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries
Central core regions in muscle fibers, Muscular dystrophy, Muscle weakness OMIM:159050
Tibial Muscular Dystrophy, Tardive
EMG: myopathic abnormalities, Steppage gait, Muscular dystrophy, Rimmed vacuoles OMIM:600334
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Late-Onset Distal Myopathy, Markesbery-Griggs Type
Proximal muscle weakness in upper limbs, Fatigable weakness of distal limb muscles, Ankle weaknes... ORPHA:98912
Distal Myopathy, Welander Type
Weakness of long finger extensor muscles, Intrinsic hand muscle atrophy, Clumsiness, Myopathy, Di... ORPHA:603
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Scapular winging, Proximal muscle weakness, Gowers sign, Proximal amyotrophy, Calf muscle hypertr... OMIM:601287
Laing Early-Onset Distal Myopathy
Toe extensor amyotrophy, Distal muscle weakness, Progressive muscle weakness, Abnormality of the ... ORPHA:59135
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
Tibial Muscular Dystrophy
Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ... ORPHA:609
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Distal muscle weakness, Proxima... OMIM:618655
Distal Nebulin Myopathy
Neck flexor weakness, Progressive distal muscle weakness, Ankle flexion contracture, Fatty replac... ORPHA:399103
Myopathy, Distal, Tateyama Type
Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ... OMIM:614321
Rhabdomyolysis, Susceptibility To, 1
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter, Rhabdomyolysis,... OMIM:620235
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Scapular winging, Pelvic girdle muscle atrophy, Calf muscle pseudohypertrophy, Limb-girdle muscle... OMIM:604286
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Waddling gait, Calf muscle pseudohypertrophy, Scapular winging, Neck flexor weakness, Centrally n... OMIM:608358
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
Miyoshi Muscular Dystrophy 3
Quadriceps muscle atrophy, Quadriceps muscle weakness, Calf muscle hypertrophy, Distal upper limb... OMIM:613319
Alpha-B Crystallin-Related Late-Onset Myopathy
Muscle fiber inclusion bodies, Autophagic vacuoles, Progressive distal muscle weakness, Respirato... ORPHA:399058
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-... OMIM:616228
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant
Scapular winging, Distal muscle weakness, Neck flexor weakness, Centrally nucleated skeletal musc... OMIM:601846
Myopathy, Distal, 7, Adult-Onset, X-Linked
Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi... OMIM:301075
Myopathy, Distal, 3
Distal muscle weakness, Clumsiness, Distal amyotrophy, Steppage gait, Muscular dystrophy, Late-on... OMIM:610099
Desminopathy
Thoracic kyphoscoliosis, Neck flexor weakness, Spinal rigidity, Respiratory insufficiency due to ... ORPHA:98909
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, G... OMIM:117000
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 1
Hypoglycosylation of alpha-dystroglycan, Lumbar hyperlordosis, Spinal rigidity, Limb-girdle muscl... OMIM:609308
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Proximal muscle weakness in upper limbs, Skeletal muscle atrophy, Shoulder flexion contracture, S... OMIM:619566
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Clumsiness, M... OMIM:253600
Myopathy, Autophagic Vacuolar, Infantile-Onset
Myopathy, Autophagic vacuoles OMIM:609500
Episodic Ataxia, Type 7
Episodic ataxia, Muscle weakness OMIM:611907
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Gait disturbance, Muscular dystrophy, Scoliosis, Generalized amyotroph... OMIM:616516
Congenital Myopathy 3 With Rigid Spine
Failure to thrive, Decreased body weight, Neck flexor weakness, Facial palsy, Poor head control, ... OMIM:602771
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Gowers sign, Achilles tendon contracture, Generalized muscle hyper... OMIM:604801
Carnitine Deficiency, Myopathic
Myopathy, Reduced muscle carnitine level OMIM:212160
Spermatogenic Failure 32
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:618115
Spermatogenic Failure 71
Male infertility, Non-obstructive azoospermia, Sertoli cell-only phenotype OMIM:619831
Muscular Dystrophy, Congenital, Davignon-Chauveau Type
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Angulated muscle fibers, Inability t... OMIM:617066
Nemaline Myopathy 7
Waddling gait, Lumbar hyperlordosis, Genu recurvatum, Kyphoscoliosis, Respiratory insufficiency d... OMIM:610687
Spastic Paraplegia 18B, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Inability to walk, Kyphosis, Babinski sign, Spast... OMIM:611225
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 12
Facial palsy, Quadriceps muscle atrophy, Proximal muscle weakness, Calf muscle hypertrophy, Shoul... OMIM:611307
Hereditary Myopathy With Early Respiratory Failure
Orthopnea, Reduced vital capacity, Skeletal muscle atrophy, Internally nucleated skeletal muscle ... ORPHA:178464
Multiminicore Myopathy
Proximal muscle weakness in upper limbs, Distal muscle weakness, Abnormal muscle fiber morphology... ORPHA:598
Finnish Upper Limb-Onset Distal Myopathy
Progressive distal muscle weakness, Fatty replacement of skeletal muscle, Progressive proximal mu... ORPHA:399086
Inclusion Body Myositis
Inflammatory myopathy, Rimmed vacuoles OMIM:147421
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26
Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ... OMIM:618848
Distal Myotilinopathy
Multiple joint contractures, Progressive distal muscle weakness, Progressive proximal muscle weak... ORPHA:98911
Myopathy, Myofibrillar, 5
Myofibrillar myopathy, Muscle fiber cytoplasmatic inclusion bodies, Muscle fiber splitting OMIM:609524
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Loss of ambulation, Increased variability in muscle ... OMIM:253601
Duchenne Muscular Dystrophy
Waddling gait, Skeletal muscle atrophy, Proximal muscle weakness, Progressive muscle weakness, Fl... ORPHA:98896
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Waddling gait, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fibers,... ORPHA:86812
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 1
Waddling gait, Bulbar palsy, Facial palsy, Gowers sign, Flexion contracture, Shoulder girdle musc... OMIM:603511
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 12
Limb-girdle muscle weakness, Gowers sign, Muscular dystrophy OMIM:616094
Muscular Dystrophy, Limb-Girdle, Type 1H
Proximal muscle weakness, Centrally nucleated skeletal muscle fibers, Calf muscle hypertrophy, Mu... OMIM:613530
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset
Poor head control, Spinal rigidity, Respiratory insufficiency due to muscle weakness, Proximal mu... OMIM:300717
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Distal muscle weakness, Proximal muscle weakness, Fatty replacement of s... OMIM:608807
Myopathy, Myofibrillar, 3
Myofibrillar myopathy, Achilles tendon contracture, Distal amyotrophy, Muscle fiber cytoplasmatic... OMIM:609200
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Emery-Dreifuss Muscular Dystrophy 4, Autosomal Dominant
Proximal amyotrophy, Neck muscle weakness, Muscular dystrophy, Proximal muscle weakness OMIM:612998
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Respiratory insufficie... OMIM:300718
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Overweight, Gowers sign, Proximal muscle weakness, Z-... OMIM:619178
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Respiratory insufficiency due to muscle weakness, ... ORPHA:98902
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Congenital Myopathy 23
Waddling gait, Skeletal muscle atrophy, Scapular winging, Reduced vital capacity, Kyphoscoliosis,... OMIM:609285
Myopathy, Myofibrillar, 4
Autophagic vacuoles, Progressive distal muscle weakness, Progressive muscle weakness, Progressive... OMIM:609452
Congenital Myopathy 18
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Ophthalmoplegia... OMIM:620246
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Ankle contracture, Kyphoscoliosis, Reduced forced vital capac... OMIM:620386
Congenital Myopathy 10B, Mild Variant
Neck flexor weakness, Elbow contracture, Fatty replacement of skeletal muscle, Progressive muscle... OMIM:620249
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A
Reduced vital capacity, Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal musc... ORPHA:266
Congenital Myopathy 9B, Proximal, With Minicore Lesions
Centrally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Type 1 muscle f... OMIM:618823
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Myopathy, Centronuclear, 4
Type 1 muscle fiber predominance, Centrally nucleated skeletal muscle fibers OMIM:614807
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal muscle weakness, Paresis of extensor muscles of the big toe, Distal lower limb muscle weak... OMIM:158590
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans
Myopathy, Scapulohumeral muscular dystrophy OMIM:160570
Mitochondrial Myopathy With Diabetes
Ataxia, Facial palsy, Proximal muscle weakness, Ragged-red muscle fibers, Babinski sign, Limb mus... OMIM:500002
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Myopathy, Myofibrillar, 2
Distal muscle weakness, Respiratory insufficiency due to muscle weakness, Limb-girdle muscle weak... OMIM:608810
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Inc... ORPHA:276435
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Progressive muscle weakness, Proximal amyo... OMIM:605355
Multifocal Motor Neuropathy
Progressive distal muscle weakness, Progressive muscle weakness, Weakness of long finger extensor... ORPHA:641
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:607734
Myopathy, Vacuolar, With Casq1 Aggregates
Muscle fiber calsequestrin 1-containing inclusion bodies OMIM:616231
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Small for gestational age, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Proximal m... OMIM:618484
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal muscle weakness, Distal amyotrophy, Scoliosis, Type... OMIM:619042
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Gowers sign... ORPHA:610
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Distal muscle weakness, Scapular winging, Facial palsy, Proximal muscle weakn... OMIM:612954
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Lower limb muscle weakness, Angulated muscle fibers, Decreased number of large peripheral myelina... OMIM:608340
Myopathy And Diabetes Mellitus
Impaired vibratory sensation, Distal lower limb amyotrophy, Inability to walk, Progressive proxim... ORPHA:2596
X-Linked Complicated Spastic Paraplegia Type 1
Upper motor neuron dysfunction, Spastic paraplegia, Lower limb muscle weakness, Ataxia ORPHA:306617
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Progressiv... OMIM:248800
Muscular Dystrophy, Progressive Pectorodorsal
Scapular winging, Shoulder girdle muscle weakness, Muscular dystrophy OMIM:310095
Spermatogenic Failure 57
Male infertility, Non-obstructive azoospermia, Spermatogenesis maturation arrest, Decreased testi... OMIM:619528
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Distal muscle weakness, Facial palsy, Hyperlordosis, Centrally n... OMIM:255200
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
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 Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Gowers sign, Flexion contr... OMIM:253700
Oculopharyngodistal Myopathy 2
Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of... OMIM:618940
Spermatogenic Failure 50
Male infertility, Azoospermia, Spermatogenesis maturation arrest, Decreased testicular size OMIM:619145
Autosomal Recessive Spastic Paraplegia Type 76
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, ... ORPHA:488594
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Peripheral axonal neuropathy, Limb muscle weakness, Onion bulb formation... OMIM:620378
Congenital Myopathy 4A, Autosomal Dominant
Bulbar palsy, Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated ske... OMIM:255310
Myoclonic Epilepsy Associated With Ragged-Red Fibers
Ataxia, Ragged-red muscle fibers, Myopathy, Myoclonus, Spasticity OMIM:545000
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Distal muscle weakness, Postural tremor, Proximal muscle weakness, Progr... OMIM:608627
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea... OMIM:620310
Merrf
Myopathy, Ragged-red muscle fibers, Short stature, Ataxia ORPHA:551
Oculopharyngeal Muscular Dystrophy
Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology ORPHA:270
Roussy-Levy Hereditary Areflexic Dystasia
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Upper limb postural... OMIM:180800
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome
Centrally nucleated skeletal muscle fibers, Progressive muscle weakness, Scoliosis, Loss of ambul... OMIM:619518
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Trim32-Related Limb-Girdle Muscular Dystrophy R8
Waddling gait, Proximal muscle weakness in lower limbs, Myopathy, Gait disturbance, Increased var... ORPHA:1878
Oculopharyngodistal Myopathy
Loss of ambulation, Foot dorsiflexor weakness, Distal lower limb amyotrophy, Proximal muscle weak... ORPHA:98897
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3
Scapular winging, Ankle flexion contracture, Proximal muscle weakness, Limb-girdle muscle weaknes... OMIM:608099
Myasthenic Syndrome, Congenital, 17
Type 1 muscle fiber predominance OMIM:616304
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Distal muscle weakness, Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated s... OMIM:617072
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal muscle weakness, Tremor, Distal sensory impairment, Distal amyotrophy, Fiber type grouping OMIM:614369
Neurodevelopmental Disorder, Nonprogressive, With Spasticity And Transient Opisthotonus
Generalized dystonia, Axial hypotonia, Parkinsonism, Spastic tetraparesis, Opisthotonus, Choreoat... OMIM:619653
Muscular Dystrophy, Congenital Merosin-Deficient, 1A
Kyphoscoliosis, Respiratory insufficiency due to muscle weakness, Ophthalmoplegia, Flexion contra... OMIM:607855
Partial Chromosome Y Deletion
Male infertility, Non-obstructive azoospermia, Cryptorchidism, Oligozoospermia, Abnormal spermato... ORPHA:1646
Myositis
Myositis, Proximal muscle weakness OMIM:160750
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Spermatogenic Failure 30
Male infertility, Cryptozoospermia, Cryptorchidism, Azoospermia, Spermatogenesis maturation arrest OMIM:618110
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Cachexia, Hyperlordosis, Spinal rigidity, Flexion contracture, Limitatio... ORPHA:157973
Dpm3-Cdg
Babinski sign, Calf muscle hypertrophy, Muscular dystrophy, Pelvic girdle muscle weakness, Muscle... ORPHA:263494
Charcot-Marie-Tooth Disease, Axonal, Type 2X
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Postural tremor, Ankle fle... OMIM:616668
Charcot-Marie-Tooth Disease, Demyelinating, Type 1C
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Ataxi... OMIM:601098
Muscular Dystrophy-Dystroglycanopathy (Congenital Without Impaired Intellectual Development), Type B, 4
Generalized muscle weakness, Muscular dystrophy OMIM:613152
Spastic Paraplegia With Neuropathy And Poikiloderma
Demyelinating sensory neuropathy, Demyelinating motor neuropathy, Spastic paraplegia, Distal amyo... OMIM:182815
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Frequent falls, Achilles t... OMIM:620068
Charcot-Marie-Tooth Disease, Demyelinating, Type 1G
Fatty replacement of skeletal muscle, Babinski sign, Hand tremor, Distal amyotrophy, Frequent fal... OMIM:618279
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3
Hyperlordosis, Proximal muscle weakness, Gowers sign, Skeletal muscle hypertrophy, Calf muscle hy... OMIM:613157
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1
Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ... ORPHA:34516
Opticocochleodentate Degeneration
Optic atrophy, Cochlear degeneration, Hearing impairment OMIM:258700
Klhl9-Related Early-Onset Distal Myopathy
Ankle flexion contracture, Intrinsic hand muscle atrophy, Abnormality of the calf musculature, St... ORPHA:399081
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Respiratory distress, Ataxia, Kyphoscoliosis, Tremor, Distal amyotrophy OMIM:619099
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal muscle weakness, Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Fir... OMIM:601472
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Distal muscle weakness, Proximal ... OMIM:605637
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Respiratory insu... OMIM:613205
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Hand muscle atrophy, Distal muscle weakness, Hand muscle weakness, Vocal cord paralysis, Distal a... OMIM:607641
Alpha-Dystroglycan-Related Limb-Girdle Muscular Dystrophy R16
Waddling gait, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Reduced muscle fiber alpha dy... ORPHA:280333
Episodic Ataxia, Type 8
Ataxia, Slurred speech, Episodic ataxia, Muscle weakness, Intention tremor OMIM:616055
Charcot-Marie-Tooth Disease, Axonal, Type 2Gg
Axonal degeneration/regeneration, Segmental peripheral demyelination/remyelination, Thenar muscle... OMIM:606483
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:613287
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Distal muscle weakness, Ataxia, Impaired pain sensation, Tremor, Kyphosi... ORPHA:101078
Bethlem Myopathy 2
Scapular winging, Proximal muscle weakness, Kyphosis, Flexion contracture, Myopathy, Scoliosis, I... OMIM:616471
Acetyl-Coa Carboxylase Deficiency
Myopathy OMIM:613933
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Distal muscle weakness, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Impaired temp... OMIM:619574
Nemaline Myopathy 2
Skeletal muscle atrophy, Neck flexor weakness, Fatty replacement of skeletal muscle, Flexion cont... OMIM:256030
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
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes
T lymphocytopenia, Decreased circulating IgG level OMIM:242870
Cochleosaccular Degeneration-Cataract Syndrome
Progressive sensorineural hearing impairment, Ataxia, Cochlear degeneration ORPHA:3233
Combined Oxidative Phosphorylation Deficiency 49
Progressive muscle weakness, Ragged-red muscle fibers, Difficulty walking OMIM:619024
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, External ophth... OMIM:255320
Sandhoff Disease, Adult Form
Tremor, Focal dystonia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Gait... ORPHA:309169
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Paresis of extensor muscles of the big toe, Distal lower limb muscle weakness, Paralysis OMIM:608634
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Myopathy, Distal, 1
Toe extensor amyotrophy, Lumbar hyperlordosis, Tibialis anterior muscle atrophy, Facial palsy, Di... OMIM:160500
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Deafness, Autosomal Dominant 9
Vertigo, Abnormality of the vestibulocochlear nerve, Postlingual sensorineural hearing impairment... OMIM:601369
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 2
Skeletal muscle hypertrophy, Muscular dystrophy, Proximal muscle weakness OMIM:613158
Cryptorchidism, Unilateral Or Bilateral
Cryptorchidism, Unilateral cryptorchidism OMIM:219050
Mitochondrial Dna Depletion Syndrome 4B (Mngie Type)
Progressive external ophthalmoplegia, Ataxia, Cachexia, Ragged-red muscle fibers, Generalized mus... OMIM:613662
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Vocal cord pares... OMIM:614895
Charcot-Marie-Tooth Disease, Dominant Intermediate B
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Segmental... OMIM:606482
Nemaline Myopathy 5C, Autosomal Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Slender build, Hyper... OMIM:620389
Dystonia 6, Torsion
Torticollis, Writer's cramp, Torsion dystonia, Myoclonus, Limb dystonia, Oromandibular dystonia, ... OMIM:602629
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome
Poor head control, Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Spina... ORPHA:486815
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Proxim... ORPHA:401768
Severe Combined Immunodeficiency Due To Foxn1 Deficiency
T lymphocytopenia ORPHA:169095
Spinocerebellar Ataxia, Autosomal Recessive 3
Ataxia, Cochlear degeneration, Hearing impairment OMIM:271250
Facioscapulohumeral Muscular Dystrophy 3, Digenic
Weakness of facial musculature, Scapular winging, Shoulder girdle muscle weakness, Angulated musc... OMIM:619477
Congenital Myopathy 8
Internally nucleated skeletal muscle fibers, Distal muscle weakness, Proximal muscle weakness, In... OMIM:618654
Charcot-Marie-Tooth Disease, Recessive Intermediate B
Decreased compound muscle action potential amplitude, Vestibular schwannoma, Foot dorsiflexor wea... OMIM:613641
Ataxia-Oculomotor Apraxia Type 4
Somatic sensory dysfunction, Progressive distal muscular atrophy, Ataxia, Kyphoscoliosis, Muscula... ORPHA:459033
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Scapuloperonea... OMIM:300696
Ullrich Congenital Muscular Dystrophy 1
Reduced muscle collagen VI, Distal joint laxity, Flexion contracture, Hyperextensibility at wrist... OMIM:254090
Charcot-Marie-Tooth Disease, Dominant Intermediate D
Upper limb muscle weakness, Distal amyotrophy, Axonal degeneration/regeneration, Segmental periph... OMIM:607791
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Distal muscle weakness, Facial palsy, Abnormal auditor... OMIM:601382
Mitochondrial Complex I Deficiency, Nuclear Type 21
Ataxia, Babinski sign, Ragged-red muscle fibers, Growth delay, Myopathy, Difficulty walking, Spas... OMIM:618242
Deafness, Autosomal Dominant 87
Enlarged vestibular aqueduct, Hearing impairment, Incomplete partition of the cochlea type II OMIM:620281
Myopathy, Myofibrillar, Fatal Infantile Hypertonic, Alpha-B Crystallin-Related
Rigidity, Hypertonia, Muscular dystrophy OMIM:613869
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15
Waddling gait, Proximal muscle weakness, Gowers sign, Unsteady gait, Myopathy, Limb-girdle muscul... OMIM:612937
Immunodeficiency 18
Decreased proportion of CD3-positive T cells, Defective T cell proliferation, Lymphopenia OMIM:615615
Myopathy, Isolated Mitochondrial, Autosomal Dominant
Proximal muscle weakness in lower limbs, Ragged-red muscle fibers, Facial palsy OMIM:616209
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Proximal muscle weakness, Proximal amyotrophy, Neck muscle weakness, Mus... OMIM:614302
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis, Proximal muscle weakness OMIM:614750
Muscular Dystrophy, Congenital, With Infantile Cataract And Hypogonadism
Congenital muscular dystrophy OMIM:254000
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased number of peripheral myelinated nerve fibers, Foot dorsiflexor weakness, Tremor, Flexio... OMIM:609260
Myopathy, Distal, With Anterior Tibial Onset
Loss of ambulation, Myopathy OMIM:606768
Charcot-Marie-Tooth Disease, Axonal, Type 2A1
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Foot dorsif... OMIM:118210
Charcot-Marie-Tooth Disease, Recessive Intermediate D
Onion bulb formation, Foot dorsiflexor weakness OMIM:616039
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Distal muscle weakness, Proximal muscle ... OMIM:616040
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates
Myopathy ORPHA:88635
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Ataxia, Oculogyric crisis, Clonus, Rigidity, Chorea, Hypotonia, Opisthotonus, Choreoathetosis, Br... ORPHA:13
Fingerprint Body Myopathy
Myopathy OMIM:305550
Batten-Turner Congenital Myopathy
Myopathy OMIM:255300
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Kyphosis, Upper limb ... OMIM:617087
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Calf muscle hypertrophy, Fasciculations... OMIM:615048
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Impaired vibratory sensation, Waddling gait, Somatic sensory dysfunction, Proximal muscle weaknes... OMIM:616924
Roussy-Lévy Syndrome
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Unsteady gait, Intrinsic hand muscle at... ORPHA:3115
Charcot-Marie-Tooth Disease, Axonal, Type 2I
Decreased number of peripheral myelinated nerve fibers, Upper limb muscle weakness, Distal amyotr... OMIM:607677
Emery-Dreifuss Muscular Dystrophy 2, Autosomal Dominant
Distal lower limb amyotrophy, Scapular winging, Peroneal muscle weakness, Spinal rigidity, Perone... OMIM:181350
Cardiomyopathy, Dilated, 3B
Increased variability in muscle fiber diameter OMIM:302045
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells
Pancytopenia, Decreased helper T cell proportion, Hypersplenism, Splenomegaly, Cutaneous anergy OMIM:183350
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Pr... OMIM:620138
Autosomal Recessive Spastic Paraplegia Type 71
Lower limb spasticity, Babinski sign, Hand tremor, Abnormal myelination, Spastic gait, Progressiv... ORPHA:401840
Cardiomyopathy Associated With Myopathy And Sudden Death
Myopathy OMIM:212130
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Lower limb muscle weakness, Spinal muscular atrophy, Fasciculations, Difficulty walking, Weakness... OMIM:615575
Zebra Body Myopathy
Waddling gait, Torticollis, Distal muscle weakness, Autophagic vacuoles, Facial palsy, Proximal m... ORPHA:97240
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 8
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired pain sensation,... OMIM:618912
Charcot-Marie-Tooth Disease, Axonal, Type 2H
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Foot dorsiflexor weakn... OMIM:607731
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Joint hyperflexibility, Gait disturbance, Cubitus valgus, Congenital muscular dystrophy ORPHA:1875
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Skeletal muscle atrophy, Elbow contracture, Vertebral fusion, Facial palsy, Hyperlordosis, Should... OMIM:606612
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Skeletal muscle atrophy, Axial hypotonia, Opisthotonus OMIM:616896
Autosomal Recessive Centronuclear Myopathy
Waddling gait, Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleate... ORPHA:169186
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Li... OMIM:616812
Charcot-Marie-Tooth Disease, Axonal, Type 2Y
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Impaired dist... OMIM:616687
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated skeletal muscle fibers, Scap... OMIM:255160
Muscular Dystrophy, Barnes Type
Myopathy, Muscular dystrophy OMIM:158800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy OMIM:609283
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Peripheral ax... OMIM:607706
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Tetraparesis, Muscular dystrophy,... OMIM:616827
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Ataxia, Inability to walk, Muscular d... OMIM:615350
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T... OMIM:616313
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Foot dorsiflexor weakness, Failure to thrive in infancy, Decreased nerve conduction velocity, Dec... ORPHA:90103
Spinocerebellar Ataxia Type 43
Peripheral axonal neuropathy, Decreased number of large peripheral myelinated nerve fibers, Limb ... ORPHA:497764
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Somatic sensory dysfunction, Ataxia, Babinski sign, Unsteady gait, Scissor... ORPHA:101010
Muscular Dystrophy, Becker Type
Calf muscle pseudohypertrophy, Muscular dystrophy, Muscle weakness OMIM:300376
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance
Proximal muscle weakness in upper limbs, Ragged-red muscle fibers, Proximal muscle weakness in lo... ORPHA:457050
Charcot-Marie-Tooth Disease, Dominant Intermediate F
Distal lower limb amyotrophy, Distal upper limb amyotrophy, Axonal regeneration, Distal lower lim... OMIM:615185
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Peripheral axonal degeneration, Skeletal muscle atrophy, Proximal muscle weakness in upper limbs,... ORPHA:101097
Combined Cellular And Humoral Immune Defects With Granulomas
T lymphocytopenia, Decreased circulating IgG level, B lymphocytopenia OMIM:233650
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased number of peripheral myelinated nerve fibers, Distal amyotrophy, Myelin outfoldings, Li... OMIM:118200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Foot dorsiflexor weakness, Frequent fa... OMIM:619216
Isolated Asymptomatic Elevation Of Creatine Phosphokinase
Myopathy ORPHA:206599
Hypermanganesemia With Dystonia 2
Limb dystonia, Generalized dystonia, Limb joint contracture, Parkinsonism, Axial hypotonia, Tremo... OMIM:617013
Amyotrophic Lateral Sclerosis 20
Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles OMIM:615426
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity, Muscle w... OMIM:611105
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Nocturnal hypoventilation, Increased variabili... OMIM:616470
Muscular Atrophy-Ataxia-Retinitis Pigmentosa-Diabetes Mellitus Syndrome
Myopathy, Ataxia ORPHA:2579
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:608323
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Cachexia ORPHA:1216
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Gowers sign, Axial muscle weakness, Knee flexion contracture, Steppage gait, Lower limb muscle we... OMIM:615290
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Proximal lower limb amyotrophy, Hip contracture, Distal muscle weak... OMIM:600175
Myoclonus-Dystonia Syndrome
Torticollis, Writer's cramp, Myoclonus, Dystonia, Spinal myoclonus, Limb myoclonus ORPHA:36899
Spermatogenic Failure 25
Male infertility, Non-obstructive azoospermia, Decreased testicular size, Cryptozoospermia OMIM:617960
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Proximal muscle weakness, Respiratory insufficienc... ORPHA:424107
Distal Myopathy, Tateyama Type
Calf muscle pseudohypertrophy, Progressive distal muscle weakness, Increased variability in muscl... ORPHA:488650
Myoclonus-Cerebellar Ataxia-Deafness Syndrome
Progressive cerebellar ataxia, Progressive gait ataxia, Generalized amyotrophy, Myoclonus, Intent... ORPHA:2589
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Ataxia, Axonal loss, Dystonia, Peripheral demyelination OMIM:616684
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Bulbar palsy, Progressive external ophthalmoplegia, Failure to thrive in... ORPHA:254875
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Neck flexor weakness, Clonus, Chorea, Upper-limb joint contracture, Opis... ORPHA:300605
Deafness, X-Linked 6
Bilateral sensorineural hearing impairment, Incomplete partition of the cochlea OMIM:300914
X-Linked Charcot-Marie-Tooth Disease Type 6
Decreased nerve conduction velocity, Sensorineural hearing impairment, Impaired vibration sensati... ORPHA:352675
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Centrally nucleated skeletal muscle fibers, Pro... OMIM:619542
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5
Waddling gait, Scapular winging, Lumbar hyperlordosis, Calf muscle pseudohypertrophy, Frequent fa... ORPHA:353
Autosomal Recessive Spastic Paraplegia Type 67
Lower limb spasticity, Babinski sign, Limb tremor, Generalized amyotrophy, Abnormal myelination, ... ORPHA:401820
Central Core Disease
Joint laxity, Neonatal respiratory distress, Multiple joint contractures, Congenital hip dislocat... ORPHA:597
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Waddling gait, Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibe... OMIM:618138
Charcot-Marie-Tooth Disease, Type 4H
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Small hypot... OMIM:609311
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 14
Hypoglycosylation of alpha-dystroglycan, Limb-girdle muscle weakness, Muscular dystrophy, Proxima... OMIM:615352
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Waddling gait, Vertebral fusion, Proximal muscle weakness, Hyperlordosis, Kyphosis, Achilles tend... OMIM:607155
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Myopathy, Myofibrillar, 9, With Early Respiratory Failure
Scapular winging, Neck flexor weakness, Proximal muscle weakness, Quadriceps muscle weakness, Ach... OMIM:603689
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Proximal muscle weakness, Gowers sign, Ragged-red muscle fibers, Pro... OMIM:610542
Charcot-Marie-Tooth Disease, Type 4J
Decreased motor nerve conduction velocity, Distal muscle weakness, Decreased nerve conduction vel... OMIM:611228
Acute Inflammatory Demyelinating Polyradiculoneuropathy
Acute demyelinating polyneuropathy, Distal lower limb muscle weakness, Onion bulb formation, Gait... ORPHA:98916
Adult-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Bradyk... ORPHA:171442
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:118220
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Axial hypotonia, Facial palsy, Truncal titubation, Rigidity, Chorea, Babinski sign, Abnormal pyra... OMIM:607483
Deafness, Autosomal Recessive 104
Abnormal vestibular function, Positive Romberg sign, Prelingual sensorineural hearing impairment,... OMIM:616515
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Short stature, Facial palsy, Achilles tendon contracture, Babinski sign, Elbow flexion contractur... OMIM:608840
Mitochondrial Complex I Deficiency, Nuclear Type 25
Myopathy, Nemaline bodies OMIM:618246
Mitochondrial Complex Iv Deficiency, Nuclear Type 21
Ataxia, Short stature, Babinski sign, Spastic diplegia, Myoclonus, Increased intramyocellular lip... OMIM:619065
Congenital Myopathy 2A, Typical, Autosomal Dominant
Waddling gait, Bulbar palsy, Neck flexor weakness, Facial palsy, Frequent falls, Spinal rigidity,... OMIM:161800
Parkinsonism With Spasticity, X-Linked
Resting tremor, Parkinsonism, Babinski sign, Cogwheel rigidity, Bradykinesia, Spasticity, Hypomim... OMIM:300911
Myopathy, Myofibrillar, 8
Scapular winging, Frequent falls, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Go... OMIM:617258
X-Linked Centronuclear Myopathy
Respiratory distress, Respiratory failure requiring assisted ventilation, Pneumonia, Centrally nu... ORPHA:596
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g... ORPHA:171439
Focal Myositis
Myositis, Muscle weakness ORPHA:48918
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Y
Proximal muscle weakness in upper limbs, Peripheral axonal neuropathy, Distal muscle weakness, Im... ORPHA:435387
Spastic Paraplegia 55, Autosomal Recessive
Lower limb spasticity, Peripheral axonal neuropathy, Tibialis anterior muscle atrophy, Lower limb... OMIM:615035
Myoclonus, Familial, 1
Ataxia, Myoclonus, Action myoclonus, Frequent falls, Action tremor OMIM:614937
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment, Upp... OMIM:302801
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Upper limb muscle weakness, Distal amyotrophy, Peripheral hypomyelination, Onion bulb formation, ... OMIM:605253
Axonal Polyneuropathy Associated With Igg/Igm/Iga Monoclonal Gammopathy
Cryoglobulinemia, Lower limb muscle weakness, Monoclonal immunoglobulin M proteinemia ORPHA:209004
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased number of peripheral myelinated nerve fibers, Onion bulb formation, Segmental periphera... OMIM:145900
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Flexion contracture, Axial ... ORPHA:98905
Glut1 Deficiency Syndrome 1
Paroxysmal dystonia, Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, S... OMIM:606777
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Poor head control, Spinal rigidity, Int... ORPHA:324604
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Axial hypotonia, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Snijders Blok-Fisher Syndrome
Facial hypotonia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Spasticity OMIM:618604
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Progr... ORPHA:254361
Dystonia 11, Myoclonic
Torticollis, Writer's cramp, Tremor, Hypotonia, Myoclonus OMIM:159900
Scapuloperoneal Myopathy, X-Linked Dominant
Waddling gait, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloper... OMIM:300695
Neuropathy, Hereditary, With Liability To Pressure Palsies
Hand muscle weakness, Vocal cord paralysis, Segmental peripheral demyelination/remyelination OMIM:162500
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Skeletal muscle hypertrophy, Gait... ORPHA:99014
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Frequent falls, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphol... ORPHA:75840
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
Immunodeficiency With Hyper-Igm, Type 3
Impaired Ig class switch recombination, Impaired memory B cell generation, Increased circulating ... OMIM:606843
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Stiff-Person Syndrome
Exaggerated startle response, Rigidity, Opisthotonus, Proximal limb muscle stiffness, Myoclonic s... OMIM:184850
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 2
Facial palsy, Hyperlordosis, Inability to walk, Flexion contracture, Hip dislocation, Respiratory... OMIM:613156
Creatine Phosphokinase, Elevated Serum
Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Muscular dystrophy, EMG: myopa... OMIM:123320
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Chronic Inflammatory Demyelinating Polyneuropathy
Somatic sensory dysfunction, Segmental peripheral demyelination/remyelination, Decreased nerve co... ORPHA:2932
Cardiomyopathy, Dilated, 1X
Calf muscle hypertrophy, Increased variability in muscle fiber diameter OMIM:611615
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal muscle weakness, Paraparesis, Distal sensory impairment, Upper limb muscle weakness, Dista... OMIM:302802
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Neck flexor weakness, Impaired distal proprioception, Progressive muscle... OMIM:157640
Dystonia 15, Myoclonic
Myoclonus, Writer's cramp, Dystonia OMIM:607488
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Decreased number of large peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Dista... OMIM:608673
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Lumbar hyperlordosis, Poor head control, Facial palsy, Distal mu... ORPHA:353327
Myopathy, Mitochondrial Progressive, With Congenital Cataract And Developmental Delay
Myopathy OMIM:613076
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:605588
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Kyphoscoliosis, Upper limb amyotrophy, Knee flexion cont... ORPHA:496689
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Distal muscle weakness, Facial palsy, Impaired pain sensation, Flexion contr... OMIM:607684
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Benign Samaritan Congenital Myopathy
Internally nucleated skeletal muscle fibers, Centrally nucleated skeletal muscle fibers ORPHA:324581
Congenital Myopathy 10A, Severe Variant
Poor head control, Facial palsy, Camptodactyly of finger, Diaphragmatic paralysis, Increased vari... OMIM:614399
Immunodeficiency 86
Impaired oxidative burst, Decreased circulating IgG level, Increased circulating IgM level OMIM:619549
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Dysm... ORPHA:397946
Intellectual Developmental Disorder, Autosomal Recessive 6
Torticollis, Kinetic tremor, Postural tremor, Involuntary movements, Myoclonus OMIM:611092
Charcot-Marie-Tooth Disease, Type 4A
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Hypertrop... OMIM:214400
Peroxisome Biogenesis Disorder 8B
Lower limb spasticity, Ataxia, Clonus, Rigidity, Babinski sign, Optic atrophy, Limb tremor, Dysme... OMIM:614877
Deafness, Autosomal Recessive 9
Absent brainstem auditory responses, Sensorineural hearing impairment OMIM:601071
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Proximal muscle weakness, Hyperlordosis, Gowers sign, Kyphosis, Spinal rig... OMIM:617404
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Auditory Neuropathy, Autosomal Dominant 1
Abnormal speech discrimination, Sensorineural hearing impairment, Absence of acoustic reflex, Abn... OMIM:609129
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Lower limb spasticity, Babinski... OMIM:613954
Paraparetic Variant Of Guillain-Barré Syndrome
Paraparesis, Peripheral axonal neuropathy, Peripheral demyelination ORPHA:231445
Muscular Dystrophy, Duchenne Type
Waddling gait, Hypoventilation, Calf muscle pseudohypertrophy, Hyperlordosis, Respiratory insuffi... OMIM:310200
Charcot-Marie-Tooth Disease Type 1A
Skeletal muscle atrophy, Distal muscle weakness, Kyphoscoliosis, Sensory ataxia, Distal sensory i... ORPHA:101081
Spinocerebellar Ataxia 35
Torticollis, Incoordination, Ataxia, Babinski sign, Impaired proprioception, Dysmetria, Pseudobul... OMIM:613908
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Abdominal wall muscle weakness, Scapular winging, Facial palsy, Beevor's... OMIM:158900
Moderate Multiminicore Disease With Hand Involvement
Facial palsy, Generalized muscle weakness, Intrinsic hand muscle atrophy, Axial muscle weakness, ... ORPHA:178145
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2F
Distal lower limb amyotrophy, Upper limb amyotrophy, Limb fasciculations, Steppage gait, Lower li... ORPHA:99940
Deafness, Autosomal Dominant 85
Sensorineural hearing impairment, Cochlear nerve hypoplasia OMIM:620227
Congenital Myopathy 14
Hip contracture, Proximal muscle weakness, Respiratory insufficiency due to muscle weakness, Flex... OMIM:618414
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Charcot-Marie-Tooth Disease Type 1B
Peripheral axonal neuropathy, Somatic sensory dysfunction, Decreased nerve conduction velocity, P... ORPHA:101082
Polyneuropathy Associated With Igm Monoclonal Gammopathy With Anti-Mag
Distal amyotrophy, Monoclonal immunoglobulin M proteinemia ORPHA:639
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Ophthalmoplegia, Increased variabili... OMIM:619473
Myasthenic Syndrome, Congenital, 2C, Associated With Acetylcholine Receptor Deficiency
Myopathy OMIM:616314
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Scapular winging, Myositis, Skin rash, Fatiguable weakness of proximal l... ORPHA:206569
Congenital Myopathy 4B, Autosomal Recessive
Distal lower limb amyotrophy, Flexion contracture, Facial diplegia, EMG: myopathic abnormalities,... OMIM:609284
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Distal amyotrophy, Shoulder girdl... OMIM:253400
Neurodegeneration, Childhood-Onset, With Brain Atrophy
Dystonia, Ataxia, Parkinsonism, Rigidity, Chorea, Abnormal pyramidal sign, Axonal loss, Abnormali... OMIM:617672
Mitochondrial Myopathy, Infantile, Transient
Facial palsy, Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Increas... OMIM:500009
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Ataxia, Respiratory insufficiency due to muscle weakness, Inability to w... OMIM:618276
Congenital Disorder Of Glycosylation, Type Iid
Myopathy, Decreased muscle mass OMIM:607091
Muscular Dystrophy, Congenital, Megaconial Type
Waddling gait, Facial palsy, Gowers sign, Myopathy, Muscular dystrophy, Increased endomysial conn... OMIM:602541
Autosomal Recessive Spastic Paraplegia Type 57
Distal lower limb amyotrophy, Spastic paraplegia, Optic atrophy, Babinski sign, Abnormal myelinat... ORPHA:431329
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Distal amyotrophy, Dysdi... OMIM:614487
Schwannomatosis 1
Vestibular schwannoma, Peripheral schwannoma OMIM:162091
Trappc11-Related Limb-Girdle Muscular Dystrophy R18
Waddling gait, Hyperlordosis, Proximal muscle weakness, Chorea, Myopathy, Limb-girdle muscular dy... ORPHA:369840
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Distal muscle weakness, Paralysis, Lower-limb joint contracture, Muscle ... OMIM:613710
Giant Axonal Neuropathy 2, Autosomal Dominant
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:610100
Striatonigral Degeneration, Infantile, Mitochondrial
Incoordination, Poor motor coordination, Clonus, Chorea, Ragged-red muscle fibers, Babinski sign,... OMIM:500003
Immunodeficiency With Hyper-Igm, Type 2
Impaired Ig class switch recombination, Increased circulating IgM level, Decreased circulating Ig... OMIM:605258
Charcot-Marie-Tooth Disease, Demyelinating, Type 1J
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment OMIM:620111
Maternal Uniparental Disomy Of Chromosome 9
Kyphoscoliosis, Short neck, Hamstring contractures, Patellar dislocation, Osteochondrosis, Failur... ORPHA:96183
Paroxysmal Non-Kinesigenic Dyskinesia
Torticollis, Involuntary movements, Rigidity, Chorea, Choreoathetosis, Hyperkinetic movements, Dy... ORPHA:98810
Immunodeficiency 24
Lymphopenia, Decreased CD4:CD8 ratio, Decreased circulating IgG2 level, Reduced proportion of muc... OMIM:615897
Developmental And Epileptic Encephalopathy 101
Axial hypotonia, Limb joint contracture, Hypotonia, Opisthotonus, Myoclonus OMIM:619814
Ataxia With Fasciculations
Ataxia, Fasciculations OMIM:108700
Atypical Rett Syndrome
Sudden episodic apnea, Episodic tachypnea, Tremor, Inability to walk, Kyphosis, Gait ataxia, Pill... ORPHA:3095
Spastic Paraplegia 76, Autosomal Recessive
Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Babinski sign, Spastic paraplegia, Dysmet... OMIM:616907
Deafness, Autosomal Recessive 4, With Enlarged Vestibular Aqueduct
Goiter, Sensorineural hearing impairment, Enlarged vestibular aqueduct, Incomplete partition of t... OMIM:600791
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:600361
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign, Ophthalmoparesis OMIM:260540
Spinocerebellar Ataxia, Autosomal Recessive 4
Peripheral axonal neuropathy, Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign... OMIM:607317
Parkinsonism-Dystonia 1, Infantile-Onset
Limb dystonia, Axial hypotonia, Oculogyric crisis, Parkinsonism, Tremor, Rigidity, Chorea, Abnorm... OMIM:613135
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:618184
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb amyotrophy, Claw hand deformity, Paralysis, Decreased number of large periphera... OMIM:605285
Nemaline Myopathy 8
Myofibrillar myopathy, Flexion contracture, Facial palsy, Nemaline bodies OMIM:615348
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Charcot-Marie-Tooth Disease, X-Linked Recessive, 5
Distal amyotrophy, Optic atrophy, Onion bulb formation, Segmental peripheral demyelination/remyel... OMIM:311070
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Proximal muscle weakness, Myopathy, Abdominal obes... OMIM:615980
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy, Fasciculations ORPHA:85162
Microcephaly-Brachydactyly-Kyphoscoliosis Syndrome
Decreased muscle mass, Kyphoscoliosis, Shuffling gait, Hypermobility of interphalangeal joints, A... ORPHA:3433
Charcot-Marie-Tooth Disease, Type 4C
Decreased motor nerve conduction velocity, Prolonged brainstem auditory evoked potentials, Periph... OMIM:601596
Intellectual Disability-Hyperkinetic Movement-Truncal Ataxia Syndrome
Progressive proximal muscle weakness, Chorea, Myopathy, Hyperkinetic movements, Limb-girdle muscu... ORPHA:369847
Mitochondrial Complex I Deficiency, Nuclear Type 15
Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Dystonia, CNS demyelination, F... OMIM:618237
Charcot-Marie-Tooth Disease, Axonal, Type 2F
Distal lower limb amyotrophy, Claw hand deformity, Upper limb amyotrophy, Steppage gait, Fascicul... OMIM:606595
Charcot-Marie-Tooth Disease Type 2B1
Decreased number of peripheral myelinated nerve fibers, Hand muscle atrophy, Toe extensor amyotro... ORPHA:98856
Myopathy, Centronuclear, 5
Hip contracture, Centrally nucleated skeletal muscle fibers, Proximal muscle weakness, Ophthalmop... OMIM:615959
Charcot-Marie-Tooth Disease, Axonal, Type 2J
Distal amyotrophy, Foot dorsiflexor weakness, Peripheral demyelination, Axonal degeneration/regen... OMIM:607736
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal muscle weakness, Distal sensory impairment OMIM:605589
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Growth delay, Ankle clonus, Fasciculations,... OMIM:620323
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Glycogen Storage Disease Due To Glycogen Debranching Enzyme Deficiency
Myopathy ORPHA:366
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2E
Somatic sensory dysfunction, Distal muscle weakness, Peripheral axonal neuropathy, Proximal muscl... ORPHA:99939
Immunodeficiency 105
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Panc... OMIM:619924
Charcot-Marie-Tooth Disease, Type 4D
Distal muscle weakness, Abnormal auditory evoked potentials, Impaired distal proprioception, Decr... OMIM:601455
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Peripheral axonal degeneration, Decreased number of peripheral myelinated nerve fibers, Distal lo... OMIM:302800
Spinocerebellar Ataxia Type 23
Impaired distal vibration sensation, Babinski sign, Impaired proprioception, Dysmetria, Gait atax... ORPHA:101108
Symptomatic Form Of Muscular Dystrophy Of Duchenne And Becker In Female Carriers
Thoracic scoliosis, Lumbar hyperlordosis, Proximal muscle weakness, Inability to walk, Quadriceps... ORPHA:206546
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Poor head control, Generalized limb muscle atrophy, Hype... OMIM:615351
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Distal muscle weakness, Ataxia, Impaired distal propri... OMIM:616688
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Progressive external ophthalmoplegia, Respiratory insufficiency due to muscle weakness, Progressi... ORPHA:663
Amino Aciduria With Mental Deficiency, Dwarfism, Muscular Dystrophy, Osteoporosis, And Acidosis
Severe short stature, Muscular dystrophy OMIM:204730
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
Charcot-Marie-Tooth Disease, Axonal, Type 2B
Decreased number of peripheral myelinated nerve fibers, Distal lower limb amyotrophy, Axonal dege... OMIM:600882
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Progressive external ophthalmoplegia, Parkinsonism, Proximal muscle weakness, Progressive muscle ... OMIM:609286
Gamma-Glutamylcysteine Synthetase Deficiency, Hemolytic Anemia Due To
Myopathy OMIM:230450
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber... OMIM:226670
Muscular Dystrophy, Congenital, With Or Without Seizures
Hypoglycosylation of alpha-dystroglycan, Ataxia, Proximal muscle weakness, Progressive muscle wea... OMIM:620166
Neurodevelopmental Disorder With Spastic Quadriplegia And Brain Abnormalities With Or Without Seizures
Respiratory distress, Inability to walk, Joint contracture, Kyphoscoliosis OMIM:617977
Congenital Muscular Dystrophy, Fukuyama Type
Hypoglycosylation of alpha-dystroglycan, Camptodactyly of finger, Flexion contracture, Myopathy, ... ORPHA:272
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Fasciculations, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Spermatogenic Failure 63
Male infertility, Reduced progressive sperm motility, Decreased testicular size, Oligozoospermia OMIM:619689
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Peripheral demyelination ORPHA:99944
Spinocerebellar Ataxia 20
Postural tremor, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Palatal tremor, Action tremor OMIM:608687
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, D... OMIM:615376
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Involuntary movements, Respiratory insufficiency due to muscle weakness,... OMIM:300816
Immunodeficiency With Hyper-Igm, Type 5
Increased circulating IgM level, Decreased circulating IgG level, Impaired Ig class switch recomb... OMIM:608106
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Adult onset sensorineural ... ORPHA:1368
Spastic Paraplegia 10, Autosomal Dominant
Lower limb spasticity, Ataxia, Parkinsonism, Babinski sign, Impaired vibration sensation in the l... OMIM:604187
Mitochondrial Myopathy, Lethal, Infantile
Myopathy OMIM:551000
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1
Scapular winging, Hyperlordosis, Progressive muscle weakness, Gowers sign, Ragged-red muscle fibe... OMIM:600462
Hypotonia, Infantile, With Psychomotor Retardation
Myopathy, Increased variability in muscle fiber diameter OMIM:616816
Charcot-Marie-Tooth Disease, Type 4B3
Onion bulb formation, Microcephaly, Decreased nerve conduction velocity, Ophthalmoplegia, Distal ... OMIM:615284
Methionine Adenosyltransferase I/Iii Deficiency
CNS demyelination, Peripheral demyelination, Dystonia OMIM:250850
Reticular Dysgenesis
Congenital agranulocytosis, Impaired T cell function, Lack of T cell function, Leukopenia, Hypopl... OMIM:267500
Oculopharyngodistal Myopathy 4
Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ... OMIM:619790
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Distal muscle weakness, Ankle weakness, Sensorineural ... OMIM:118300
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Limb muscle weakness, Myopathy, Type 1 muscle fiber predominance, Type 2 m... OMIM:603034
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Cachexia, Tremor, Myoclonus, Limb mu... ORPHA:97229
Amyotrophic Lateral Sclerosis 21
Bulbar palsy, Distal muscle weakness, Centrally nucleated skeletal muscle fibers, Hand muscle wea... OMIM:606070
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4
Waddling gait, Broad-based gait, Calf muscle hypertrophy, Myopathy, Difficulty walking, Pelvic gi... ORPHA:119
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Large for ge... ORPHA:169189
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant
Splenomegaly, Decreased proportion of class-switched memory B cells, Lymphadenopathy, T lymphocyt... OMIM:615513
Male Infertility With Azoospermia Or Oligozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Increased circulating gonadotropin level, Abnormal spermatogenesis, ... ORPHA:399805
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal muscle weakness, Fo... OMIM:607678
Short-Limb Skeletal Dysplasia With Severe Combined Immunodeficiency
Agammaglobulinemia, Lymphopenia, Hypoplasia of the thymus OMIM:200900
Charcot-Marie-Tooth Disease Type 4A
Distal muscle weakness, Impaired distal proprioception, Decreased nerve conduction velocity, Impa... ORPHA:99948
Lethal Congenital Contracture Syndrome 8
Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, Distal arthrogrypo... OMIM:616287
Segawa Syndrome, Autosomal Recessive
Axial hypotonia, Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:605407
Neutral Lipid Storage Disease With Myopathy
Short stature, Increased muscle lipid content, Myopathy, Fasciculations, Difficulty walking OMIM:610717
Spondyloepiphyseal Dysplasia, Stanescu Type
Waddling gait, Stiff neck, Kyphoscoliosis, Joint stiffness, Vertebral wedging, Platyspondyly, Bea... OMIM:616583
Progressive Myoclonic Epilepsy Type 1
Ataxia, Limb ataxia, Myoclonus, Morning myoclonic jerks, Intention tremor ORPHA:308
Muscle Filaminopathy
Back pain, Scapular winging, Neck flexor weakness, Fatty replacement of skeletal muscle, Abnormal... ORPHA:171445
Duane Anomaly-Myopathy-Scoliosis Syndrome
Myopathy ORPHA:50817
X-Linked Progressive Cerebellar Ataxia
Distal lower limb amyotrophy, Unsteady gait, Babinski sign, Dysmetria, Clumsiness, Spastic dysart... ORPHA:1175
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:605726
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Gowers sign, Ragged-red muscle fibers, Axial muscle weakness, Generalized amy... OMIM:620351
Myasthenic Syndrome, Congenital, 25, Presynaptic
Poor head control, Spinal rigidity, Kyphosis, Flexion contracture, Myopathy, Generalized amyotrop... OMIM:618323
Muscular Dystrophy, Cardiac Type
Muscular dystrophy OMIM:309930
Distal Hereditary Motor Neuropathy Type 5
Impaired vibratory sensation, Abnormal motor nerve conduction velocity, First dorsal interossei m... ORPHA:139536
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Involuntary movements, Generalized muscle weakness, Tongue fasciculation... ORPHA:238329
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal pyramidal sign, Peripheral demyelination, Leukodystrophy DECIPHER:59
Cednik Syndrome
Poor head control, Ataxia, Microcephaly, Sensorineural hearing impairment, Optic atrophy, Hypogon... ORPHA:66631
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... OMIM:617114
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... ORPHA:972
Pendred Syndrome
Hyperparathyroidism, Ataxia, Vertigo, Sensorineural hearing impairment, Abnormality of the inner ... ORPHA:705
Leber Hereditary Optic Neuropathy
Postural tremor, Myopathy, Ataxia ORPHA:104
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Facial palsy, Inability to walk, Flexion contracture, Macroglossia, Calf muscle hypertrophy, Musc... OMIM:613155
Isaacs Syndrome
Weight loss, Distal sensory impairment, Calf muscle hypertrophy, Fasciculations, Muscle weakness ORPHA:84142
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Distal muscle weakness, P... ORPHA:99950
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Small for gestational age, Spinal muscular atrophy, Camptodactyly of finger, Denervation of the d... OMIM:604320
Dyskinesia, Limb And Orofacial, Infantile-Onset
Axial hypotonia, Tremor, Chorea, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy
T lymphocytopenia, Decreased helper T cell proportion OMIM:601705
Lymphoma, Hodgkin, Classic
Polyclonal elevation of IgM OMIM:236000
Usher Syndrome Type 3
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231183
Richieri Costa-Da Silva Syndrome
Joint dislocation, Decreased muscle mass, Diastasis recti, Kyphoscoliosis, Short neck, Inability ... ORPHA:3101
Pontocerebellar Hypoplasia, Type 2B
Axial hypotonia, Clonus, Chorea, Babinski sign, Hypotonia, Opisthotonus, Extrapyramidal dyskinesi... OMIM:612389
Macroglobulinemia, Waldenstrom, Susceptibility To, 1
Monoclonal immunoglobulin M proteinemia, Polyclonal elevation of IgM OMIM:153600
Spinocerebellar Ataxia Type 35
Torticollis, Ophthalmoplegia, Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Progressive cer... ORPHA:276193
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant
T lymphocytopenia, Abnormally low T cell receptor excision circle level OMIM:618806
Developmental And Epileptic Encephalopathy 69
Inability to walk, Spastic tetraplegia, Congenital contracture, Hyperkinetic movements, Myoclonus... OMIM:618285
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Spastic Paraplegia 46, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Kyphosis, Babinski sign, Impaired vibration ... OMIM:614409
Congenital Myopathy 15
Waddling gait, Osteopenia, Reduced forced vital capacity, Fatty replacement of skeletal muscle, I... OMIM:620161
Infantile-Onset X-Linked Spinal Muscular Atrophy
Respiratory distress, Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture... ORPHA:1145
Mitochondrial Complex Iii Deficiency, Nuclear Type 4
Ataxia, Inability to walk, Ragged-red muscle fibers, Athetosis, Abnormality of extrapyramidal mot... OMIM:615159
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 7
Hypoglycosylation of alpha-dystroglycan, Scapular winging, Macroglossia, Calf muscle hypertrophy,... OMIM:616052
Charcot-Marie-Tooth Disease, Dominant Intermediate G
Waddling gait, Distal muscle weakness, Ataxia, Proximal muscle weakness, Gowers sign, Babinski si... OMIM:617882
Peripheral Motor Neuropathy, Childhood-Onset, Biotin-Responsive
Thenar muscle atrophy, Dysmetria, Dysdiadochokinesis, Distal lower limb muscle weakness, Inteross... OMIM:619903
Christianson Syndrome
Decreased muscle mass, Cachexia, Truncal ataxia, Gait ataxia, Joint hyperflexibility, Inappropria... ORPHA:85278
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Apnea, Facial hypotonia, Ataxia, Short neck, Tremor, Kyphoscoliosis, Flexion cont... OMIM:300055
Rigid Spine Syndrome
Waddling gait, Hip contracture, Skeletal muscle atrophy, Elbow flexion contracture, Hamstring con... ORPHA:97244
Macular Degeneration, Age-Related, 3
Decreased nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, Distal... OMIM:608895
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome)
T lymphocytopenia DECIPHER:16
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Opisthotonus OMIM:250800
Null Syndrome
Ataxia, Optic atrophy, CNS hypomyelination, Progressive spastic quadriplegia, Peripheral demyelin... ORPHA:280234
Metabolic Crises, Recurrent, With Variable Encephalomyopathic Features And Neurologic Regression
Ataxia, Proximal muscle weakness, Rhabdomyolysis, Ragged-red muscle fibers, Choreoathetosis, Scol... OMIM:618416
Combined Oxidative Phosphorylation Deficiency 13
Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoathetosis, Poor head... OMIM:614932
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 12
Decreased motor nerve conduction velocity, Peroneal muscle weakness OMIM:614751
Mitochondrial Myopathy With Reversible Cytochrome C Oxidase Deficiency
Ragged-red muscle fibers, Increased muscle lipid content, Increased muscle glycogen content, Macr... ORPHA:254864
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome
Impaired vibration sensation in the lower limbs, Optic atrophy, Gait ataxia, Progressive cerebell... ORPHA:95433
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ... OMIM:620265
Progressive Pseudorheumatoid Dysplasia
Waddling gait, Arthropathy, Enlarged interphalangeal joints, Camptodactyly of finger, Kyphoscolio... OMIM:208230
Usher Syndrome Type 1
Abnormal cochlea morphology, Sensorineural hearing impairment, Vestibular hypofunction, Ataxia ORPHA:231169
Pendred Syndrome
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear malformation,... OMIM:274600
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Impaired pain sensation, Muscular dystrophy, Ap... ORPHA:2926
Charcot-Marie-Tooth Disease, Type 4B2
Decreased number of peripheral myelinated nerve fibers, Segmental peripheral demyelination/remyel... OMIM:604563
Congenital Fiber-Type Disproportion Myopathy
Progressive muscle weakness, Flexion contracture, Knee flexion contracture, Foot dorsiflexor weak... ORPHA:2020
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Sensorineural hearing impairment, Ataxia ORPHA:1188
Charcot-Marie-Tooth Disease Type 4G
Peripheral axonal neuropathy, Upper limb amyotrophy, Distal amyotrophy, Distal lower limb muscle ... ORPHA:99953
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Skeletal muscle atrophy, Ataxia, Rigidity, Bradykinesia, Fasciculations, Spasticity OMIM:183050
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Leukoencephalopathy With Dystonia And Motor Neuropathy
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Hypergonadotropic hypogo... OMIM:613724
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Peroxisome Biogenesis Disorder 11B
Progressive muscle weakness, Muscle weakness OMIM:614885
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Myopathy, Limb muscle weakness, Type 2 muscle fiber atrophy OMIM:605809
Hereditary Geniospasm
Abnormality of mentalis muscle, Abnormal social behavior, Chin myoclonus, Intention tremor ORPHA:53372
Dystonia 23
Axial dystonia, Torticollis, Writer's cramp, Myoclonus, Head tremor, Limb dystonia OMIM:614860
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Cachexia, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia OMIM:618093
Spastic Paraplegia 30, Autosomal Dominant
Lower limb spasticity, Ataxia, Babinski sign, Spastic paraplegia, Lower limb amyotrophy, Dysmetri... OMIM:610357
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Waddling gait, Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy,... OMIM:310300
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
Back pain, Delayed vertebral ossification, Thoracic kyphoscoliosis, Small for gestational age, Ky... OMIM:613330
Hypogonadotropic Hypogonadism 11 With Or Without Anosmia
Hypogonadotropic hypogonadism, Cryptorchidism, Primary amenorrhea, Microphallus, Micropenis, Decr... OMIM:614840
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Tremor, Fatty replacement of skeletal muscle, Decreased nerve conduction velocity, Vocal cord par... ORPHA:397744
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Limb-girdle muscle weakness, Myopathy, Gait disturbance, Difficulty ... ORPHA:352470
Typical Nemaline Myopathy
Neck flexor weakness, Short neck, Fatigable weakness of distal limb muscles, Limb-girdle muscle w... ORPHA:171436
Diastrophic Dysplasia
Hip contracture, Lumbar hyperlordosis, Small for gestational age, Cervical kyphosis, Kyphoscolios... OMIM:222600
Arts Syndrome
Progressive muscle weakness, Ataxia, Tetraplegia OMIM:301835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 3
Congenital muscular dystrophy, Muscular dystrophy OMIM:613151
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis ORPHA:640
Dyskinesia With Orofacial Involvement, Autosomal Recessive
Axial hypotonia, Tremor, Myoclonus, Dystonia, Frequent falls OMIM:619647
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Tremor, Head titubation, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Bulbar palsy, Facial palsy, Respiratory insufficiency due to muscle weakness, Gowers sign, Genera... OMIM:608930
Retinal Telangiectasia And Hypogammaglobulinemia
Reduced delayed hypersensitivity, Decreased circulating IgG level OMIM:267900
Primary Dystonia, Dyt4 Type
Respiratory distress, Eunuchoid habitus, Torticollis, Generalized dystonia, Upper limb postural t... ORPHA:98805
Neurodegeneration, Childhood-Onset, With Progressive Microcephaly
Cerebral palsy, Clonus, Babinski sign, Spastic tetraplegia, Hypotonia, Opisthotonus, Hypertonia, ... OMIM:619847
Congenital Cataracts, Facial Dysmorphism, And Neuropathy
Peripheral axonal degeneration, Ataxia, Acute rhabdomyolysis, Chorea, Axonal degeneration, Babins... OMIM:604168
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Decreased number of peripheral myelinated nerve fibers, Axonal degeneration, Hand tremor, Proxima... OMIM:604484
Citrullinemia Type I
Torticollis, Ataxia, Tachypnea, Ankle clonus, Lethargy, Failure to thrive ORPHA:247525
Autosomal Recessive Progressive External Ophthalmoplegia
Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, Cogwheel ... ORPHA:254886
Chromosome Xq21 Deletion Syndrome
Obesity, Conductive hearing impairment, Progressive sensorineural hearing impairment, Incomplete ... OMIM:303110
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Distal muscle weakness, Ataxia, Impaired pain sensation, Kyphosis, Ophthalmoplegia, Unsteady gait... OMIM:618124
Neuropathy, Ataxia, And Retinitis Pigmentosa
Myopathy, Ataxia OMIM:551500
Rett Syndrome
Skeletal muscle atrophy, Apnea, Intermittent hyperventilation, Cachexia, Kyphosis, Gait apraxia, ... OMIM:312750
Adult-Onset Distal Myopathy Due To Vcp Mutation
Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Fatty replacem... ORPHA:329478
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Myopathy, Gait disturbance, Increased variability in muscle fiber diameter, Spasticity OMIM:125250
Combined Saposin Deficiency
Babinski sign, Optic atrophy, Hyperkinetic movements, Myoclonus, Fasciculations, CNS demyelination OMIM:611721
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Lipid Storage Myopathy Due To Flavin Adenine Dinucleotide Synthetase Deficiency
Fatty replacement of skeletal muscle, Myopathy OMIM:255100
Early-Onset X-Linked Optic Atrophy
Optic disc pallor, Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Choreoathetos... ORPHA:98890
Infantile Refsum Disease
Ataxia, Facial palsy, Progressive muscle weakness, Spasticity, Failure to thrive ORPHA:772
Kearns-Sayre Syndrome
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Ataxia, Progressive intervertebral... ORPHA:480
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Distal muscle weakness, Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal... OMIM:618387
Leukodystrophy, Hypomyelinating, 18
Abnormal motor nerve conduction velocity, Decreased nerve conduction velocity, Dysmetria, Seconda... OMIM:618404
Muscular Pseudohypertrophy-Hypothyroidism Syndrome
Short stature, Skeletal muscle hypertrophy, Macroglossia, Myopathy, Gait disturbance ORPHA:2349
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Poor head control, Facial palsy, Abnormal muscle fiber ... ORPHA:171881
Flynn-Aird Syndrome
Skeletal muscle atrophy, Ataxia, Cachexia, Impaired pain sensation, Kyphosis, Scoliosis ORPHA:2047
Immunoneurologic Disorder, X-Linked
Progressive proximal muscle weakness, Spastic paraplegia OMIM:300076
Papa Syndrome
Increased inflammatory response, Myositis, Acne, Pustule, Arthritis, Crohn's disease ORPHA:69126
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... OMIM:619028
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Decreased nerve conduction velocity, Cryptorchidism, Optic atrophy, EEG abnormality, Abnormal per... ORPHA:457205
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Distal muscle weakness, Glycogen accumulation in muscle fiber lysosomes,... OMIM:300559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Progressive external ophthalmoplegia, Distal muscle weakness, Proximal m... OMIM:617070
Heart-Hand Syndrome, Slovenian Type
Myopathy OMIM:610140
X-Linked Intellectual Disability, Van Esch Type
Decreased serum testosterone concentration, Hypergonadotropic hypogonadism, Microcephaly, Cryptor... ORPHA:163976
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Periphera... OMIM:218000
Foxg1 Syndrome
Kyphoscoliosis, Inability to walk, Abnormal respiratory system physiology, Choreoathetosis, Impai... ORPHA:561854
Deafness-Hypogonadism Syndrome
Stapes ankylosis, Hypergonadotropic hypogonadism, Abnormality of the middle ear ossicles, Severe ... ORPHA:90646
Immunodeficiency 19
T lymphocytopenia, Abnormal B cell morphology, Abnormal natural killer cell morphology OMIM:615617
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Broad-based gait, Progressive external ophthalmoplegia, Ataxia, Clonus, ... OMIM:616479
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Hypotonia, Muscular dystrophy OMIM:614830
Adducted Thumbs Syndrome
Myopathy, Arthrogryposis multiplex congenita, Cerebral dysmyelination OMIM:201550
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Peripheral axonal neuropa... ORPHA:101077
Alexander Disease Type I
Ataxia, Cachexia, Abnormal pyramidal sign, Spasticity, Scoliosis, Palatal tremor, Failure to thrive ORPHA:363717
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Brown-Vialetto-Van Laere Syndrome 2
Ataxia, Facial palsy, Kyphoscoliosis, Respiratory insufficiency, Generalized amyotrophy, Scoliosi... OMIM:614707
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:254881
Congenital Disorder Of Glycosylation, Type Ie
Respiratory distress, Ataxia, Ankle flexion contracture, Tremor, Patent ductus arteriosus, Knee f... OMIM:608799
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Gait disturbance, Fasciculations, Proximal amyotrophy OMIM:608030
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Unsteady gait, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, ... ORPHA:95434
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Distal muscle weakness, Impaired distal proprioception... OMIM:162400
Combined Oxidative Phosphorylation Defect Type 13
Poor head control, Decreased nerve conduction velocity, Sensorineural hearing impairment, Choreoa... ORPHA:319514
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Hypotonia, Knee flexion contracture, Facial diplegia, Distal ... OMIM:616286
Charcot-Marie-Tooth Disease, Axonal, Type 2P
Decreased motor nerve conduction velocity, Peripheral axonal degeneration, Distal muscle weakness... OMIM:614436
Congenital Disorder Of Glycosylation, Type Ip
Neonatal hypotonia, Hypotonia, Opisthotonus OMIM:613661
Dentatorubral-Pallidoluysian Atrophy
Ataxia, Parkinsonism, Chorea, Choreoathetosis, Myoclonus, Dystonia OMIM:125370
Myoclonus, Intractable, Neonatal
Optic disc pallor, Delayed CNS myelination, Chorea, Athetosis, Myoclonus, Increased variability i... OMIM:617235
Developmental And Epileptic Encephalopathy 84
Axial hypotonia, Chorea, Babinski sign, Opisthotonus, Generalized hypotonia, Dystonia, Spasticity OMIM:618792
Genetic Recurrent Myoglobinuria
Proximal muscle weakness in upper limbs, Myositis, Viral infection-induced rhabdomyolysis, Fatiga... ORPHA:99845
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Inability to walk, Increased variability in muscle fiber diameter, Ataxia, Gait ataxia OMIM:617915
Arnold-Chiari Malformation Type I
Functional abnormality of the inner ear, Somatic sensory dysfunction, Dysesthesia, Vertigo, Crani... ORPHA:268882
Spinocerebellar Ataxia Type 25
Decreased number of large peripheral myelinated nerve fibers, Babinski sign, Gait ataxia, Spastic... ORPHA:101111
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Ataxia, Rigidity, Myopathy, Hypertonia, Muscular dystrophy, Scoliosis, M... ORPHA:559
Brachyolmia Type 1, Toledo Type
Back pain, Kyphoscoliosis, Short neck, Precocious costochondral ossification, Irregular vertebral... OMIM:271630
Leukodystrophy, Hypomyelinating, 17
Inability to walk, Flexion contracture, Kyphoscoliosis OMIM:618006
Mcdonough Syndrome
Kyphosis, Cachexia, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Peripheral axonal neuropathy, Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dy... ORPHA:313772
Dysspondyloenchondromatosis
Joint dislocation, Enlarged joints, Kyphoscoliosis, Osteoarthritis, Generalized joint laxity, Del... ORPHA:85198
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Myopathy, Joint hypermobility ORPHA:300179
Chiari Malformation Type Ii
Ataxia, Hypotonia, Opisthotonus, Generalized hypotonia, Limb muscle weakness OMIM:207950
Short Chain Acyl-Coa Dehydrogenase Deficiency
Optic atrophy, Myopathy, Hypertonia, Dystonia, Failure to thrive ORPHA:26792
Joubert Syndrome 7
Central apnea, Ataxia, Episodic tachypnea, Tachypnea, Genu valgum, Scoliosis, Neonatal breathing ... OMIM:611560
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... OMIM:610246
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Pontocerebellar Hypoplasia, Type 2E
Flexion contracture, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonus, Neonatal hypotonia... OMIM:615851
Epilepsy, Progressive Myoclonic, 9
Gait ataxia, Myoclonus, Generalized amyotrophy, Action myoclonus, Frequent falls OMIM:616540
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Hypotonia, Gait ataxia, Opisthotonus, Myoclonus, Generalized hypotonia, ... OMIM:103050
Immunodeficiency 76
Splenomegaly, Lymphadenopathy, T lymphocytopenia, B lymphocytopenia, Lymphopenia OMIM:619164
Xq21 Microdeletion Syndrome
Stapes ankylosis, Ataxia, Decreased response to growth hormone stimulation test, Dilatated intern... ORPHA:1435
Leukodystrophy, Hypomyelinating, 5
Onion bulb formation, Lower limb muscle weakness, Truncal titubation, Babinski sign, Abnormal pyr... OMIM:610532
Hyperekplexia 4
Kyphoscoliosis, Flexion contracture, Respiratory failure, Distal arthrogryposis, Camptodactyly OMIM:618011
Pontocerebellar Hypoplasia, Type 2A
Chorea, Opisthotonus, Congenital contracture, Extrapyramidal dyskinesia, Dystonia OMIM:277470
Multicentric Reticulohistiocytosis
Muscle weakness, Cachexia ORPHA:139436
Adult Krabbe Disease
Ataxia, Progressive spastic paraparesis, Hoffmann sign, Babinski sign, Clumsiness, Upper limb mus... ORPHA:206448
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:613752
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Episodic flaccid weakness, Respiratory paralysis, In... ORPHA:681
Ravine Syndrome
Failure to thrive, Ataxia, Abnormal auditory evoked potentials, Decreased body weight ORPHA:99852
Metachromatic Leukodystrophy Due To Saposin B Deficiency
Spastic tetraparesis, Babinski sign, Gait ataxia, CNS demyelination, Peripheral demyelination OMIM:249900
Porphyria, Acute Hepatic
Respiratory paralysis, Hypotonia, Paralysis OMIM:612740
Pelizaeus-Merzbacher Disease
Ataxia, Failure to thrive in infancy, Cachexia, Joint stiffness, Kyphosis, Respiratory insufficie... ORPHA:702
Leukoencephalopathy-Palmoplantar Keratoderma Syndrome
Decreased number of peripheral myelinated nerve fibers, Slurred speech, Clumsiness, Hypertonia, T... ORPHA:2386
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Charcot-Marie-Tooth Disease Type 1F
Impaired vibratory sensation, Absent brainstem auditory responses, Somatic sensory dysfunction, P... ORPHA:101085
Spastic Paraplegia 11, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Lower limb spast... OMIM:604360
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Decreased cervical spine flexion due to contractures of posterior cervical muscles, Wa... ORPHA:98855
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Ataxia, Spastic paraplegia, Hypotonia, Opisthotonus, Choreoathetosis, Hy... OMIM:614969
Combined Oxidative Phosphorylation Deficiency 4
Neonatal hypotonia, Spasticity, Opisthotonus OMIM:610678
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Decreased number of peripheral myelinated nerve fibers, Optic disc pallor, Peripheral axonal neur... ORPHA:320406
Krabbe Disease
Optic atrophy, Hypertonia, Decerebrate rigidity, Progressive spasticity, CNS demyelination, Failu... OMIM:245200
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
X-Linked Immunoneurologic Disorder
Myopathy, Hypertonia, Hemiplegia/hemiparesis ORPHA:2571
Slowed Nerve Conduction Velocity, Autosomal Dominant
Onion bulb formation, Peripheral demyelination OMIM:608236
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Decreased compound muscle action potential amplitude, Impaired distal vibration sensation, Distal... OMIM:619519
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Distal muscle weakness, Impaired distal proprioception... OMIM:270685
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Autosomal Recessive Spastic Paraplegia Type 69
Lower limb spasticity, Hand tremor, Spastic dysarthria, Abnormal myelination, Progressive spastic... ORPHA:401830
X-Linked Intellectual Disability, Cilliers Type
Decreased serum testosterone concentration, Failure to thrive, Hypergonadotropic hypogonadism, Hy... ORPHA:163971
Familial Isolated Dilated Cardiomyopathy
Myopathy ORPHA:154
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... OMIM:607831
Pyruvate Dehydrogenase Deficiency
Ataxia, Tremor, Dyspnea, Tachypnea, Osteolytic defects of the middle phalanx of the 4th toe, Chor... ORPHA:765
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased muscle mass, Distal muscle weakness, Cachexia, External ophthalmoplegia, Ragged-red mus... ORPHA:298
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... ORPHA:209335
Cernunnos-Xlf Deficiency
Decreased circulating antibody level, Anemia, T lymphocytopenia, B lymphocytopenia, Lymphopenia, ... ORPHA:169079
Autoimmune Interstitial Lung, Joint, And Kidney Disease
Dyspnea, Tachypnea, Restrictive ventilatory defect, Arthritis, Cough, Decreased DLCO OMIM:616414
Coenzyme Q10 Deficiency, Primary, 8
Left ventricular hypertrophy, Flexion contracture, Small for gestational age, Peripheral demyelin... OMIM:616733
Eosinophilic Fasciitis
Arthritis, Fasciitis, Muscular edema, Myositis ORPHA:3165
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Delayed epiphyseal ossification, Generalized joint laxity, Multiple joint dislocation, Abnormal c... ORPHA:93360
Lipodystrophy, Congenital Generalized, Type 4
Centrally nucleated skeletal muscle fibers, Spinal rigidity, Hyperlordosis, Proximal muscle weakn... OMIM:613327
Hypophosphatasia, Childhood
Waddling gait, Myopathy, Short stature OMIM:241510
Developmental And Epileptic Encephalopathy 103
Ataxia, Hypotonia, Spastic tetraplegia, Eyelid myoclonus, Opisthotonus OMIM:619913
Glutaric Acidemia I
Rigidity, Hypotonia, Spastic diplegia, Opisthotonus, Choreoathetosis, Generalized hypotonia, Dyst... OMIM:231670
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Ataxia, Kyphosis, Tongue fasciculations, Facial myokymia, Failure to thrive OMIM:620007
Male Infertility With Teratozoospermia Due To Single Gene Mutation
Non-obstructive azoospermia, Abnormal sperm tail morphology, Increased circulating gonadotropin l... ORPHA:399808
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy OMIM:615511
Spastic Paraplegia Type 7
Somatic sensory dysfunction, Ragged-red muscle fibers, Impaired vibration sensation in the lower ... ORPHA:99013
Immunodeficiency 95
Decreased circulating IgG3 level, Increased circulating IgG3 level OMIM:619773
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Tremor, Paraparesis, Babinski si... OMIM:615157
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intermittent episodes of respiratory insufficiency due to muscle weakness, O... OMIM:601462
Coenzyme Q10 Deficiency, Primary, 1
Ataxia, Tremor, Progressive muscle weakness, Ragged-red muscle fibers, Myoclonus, Loss of ambulat... OMIM:607426
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy
Camptodactyly of finger, Cachexia, Wrist swelling, Limitation of joint mobility, Osteolysis, Meta... ORPHA:2774
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 13
Decreased compound muscle action potential amplitude, Distal lower limb muscle weakness OMIM:619112
Monomelic Amyotrophy
Degeneration of anterior horn cells, Distal upper limb amyotrophy, Tremor, Fasciculations ORPHA:65684
Hypokalemic Periodic Paralysis, Type 1
Episodic flaccid weakness, Myopathy, Muscle weakness, Periodic paralysis OMIM:170400
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Spasticity of pharyngeal muscles ORPHA:3299
Neurodegeneration With Brain Iron Accumulation 2A
Frontal bossing, Ataxia, Decreased nerve conduction velocity, Generalized muscle weakness, Optic ... OMIM:256600
Atypical Juvenile Parkinsonism
Resting tremor, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal pyramidal ... ORPHA:391411
Spastic Paraplegia 26, Autosomal Recessive
Impaired vibratory sensation, Lower limb spasticity, Distal lower limb amyotrophy, Ataxia, Babins... OMIM:609195
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Multiple Mitochondrial Dysfunctions Syndrome 1
Axial hypotonia, Spastic tetraparesis, Opisthotonus, Abnormality of extrapyramidal motor function... OMIM:605711
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Idiopathic Camptocormia
Myositis, Parkinsonism, Fatigable weakness of skeletal muscles, Fatty replacement of skeletal mus... ORPHA:1320
Isolated Glycerol Kinase Deficiency
Myopathy ORPHA:408
Otosclerosis 7
Otosclerosis, Progressive hearing impairment, Conductive hearing impairment, Abnormality of the a... OMIM:611572
Spinocerebellar Ataxia Type 14
Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Abnormality... ORPHA:98763
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Paralysis, Dystonia OMIM:300857
Autosomal Recessive Spastic Paraplegia Type 70
Lower limb spasticity, Progressive spastic paraplegia, Hand tremor, Abnormal myelination ORPHA:401835
Mitochondrial Dna Depletion Syndrome 8A (Encephalomyopathic Type With Renal Tubulopathy)
Cachexia, External ophthalmoplegia, Weight loss, Gait ataxia, Failure to thrive OMIM:612075
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Hyperextensibility of the finger joints, Decreased muscle mass, Lumbar hyperlordosis, Thoracolumb... ORPHA:3041
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles, Restrictive partial external ophthalmoplegia OMIM:609384
Hepatic Venoocclusive Disease With Immunodeficiency
Decreased circulating IgG level OMIM:235550
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Diaphragmatic paralysis ORPHA:868
Woolly Hair Nevus
Precocious puberty, Enlarged vestibular aqueduct ORPHA:79414
Primary Pulmonary Hypoplasia
Neonatal respiratory distress, Apnea, Abnormal hemidiaphragm morphology, Asthma, Tachypnea, Pneum... ORPHA:2257
Spastic Paraplegia 86, Autosomal Recessive
Distal muscle weakness, Ataxia, Inability to walk, Babinski sign, Spastic paraplegia, Choreoathet... OMIM:619735
Presynaptic Congenital Myasthenic Syndromes
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:98914
Congenital Myasthenic Syndrome
Congenital hip dislocation, Limb-girdle muscle weakness, Muscle fiber atrophy, Frontalis muscle w... ORPHA:590
Immunodeficiency 50
Decreased circulating antibody level, Lymphopenia, Neutropenia OMIM:300988
Autosomal Recessive Spastic Paraplegia Type 48
Lower limb spasticity, Broad-based gait, Ataxia, Parkinsonism, Myoclonus, Lower limb muscle weakn... ORPHA:306511
Classic Pantothenate Kinase-Associated Neurodegeneration
Frequent falls, Generalized dystonia, Spasticity, Opisthotonus ORPHA:216866
Metatropic Dysplasia
Relatively short spine, Enlarged joints, Kyphoscoliosis, Abnormal enchondral ossification, Hypopl... OMIM:156530
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Tremor, Kyphosis, Progressive muscle weakness, Unsteady gait, Respirator... OMIM:615512
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Amyotrophic lateral sclerosis, Somatic sensory dysfunction OMIM:612577
Spastic Paraplegia 53, Autosomal Recessive
Impaired vibratory sensation, Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Gait d... OMIM:614898
Combined Oxidative Phosphorylation Deficiency 27
Severe muscular hypotonia, Chorea, Hypotonia, Opisthotonus, Myoclonus, Tetraparesis, Dystonia OMIM:616672
Episodic Ataxia Type 1
Respiratory distress, Kyphoscoliosis, Choreoathetosis, Calf muscle hypertrophy, Tip-toe gait, Sco... ORPHA:37612
Nemaline Myopathy 10
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Fatty replacement of skeletal muscle, Respir... OMIM:616165
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Flexion contracture, Degenera... OMIM:301830
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Neck flexor weakness, Facial palsy, Triceps wea... ORPHA:98913
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Ataxia, Small for gestational age, Kyphoscoliosis, Failure to thrive in ... ORPHA:59
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ataxia, Cachexia, Microcephaly, Decreased nerve conduction velocity, Sensorineural hearing impair... ORPHA:1933
Autosomal Recessive Spastic Paraplegia Type 53
Impaired vibratory sensation, Clonus, Kyphosis, Impaired proprioception, Upper limb hypertonia, F... ORPHA:319199
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Ataxia, Cachexia, Proximal muscle weakness, Fatigable weakness, Myopathy... ORPHA:42
Charcot-Marie-Tooth Disease, Dominant Intermediate E
Distal lower limb amyotrophy, Claw hand deformity, Axonal loss, Distal upper limb amyotrophy, Oni... OMIM:614455
Recurrent Respiratory Papillomatosis
Respiratory distress, Nonproductive cough, Wheezing, Tachypnea, Dyspnea, Upper airway obstruction... ORPHA:60032
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Spermatogenic Failure, X-Linked, 2
Male infertility, Azoospermia, Testicular atrophy, Spermatogenesis maturation arrest OMIM:309120
Immunodeficiency 25
Increased circulating IgA level, Increased circulating IgE level, Increased circulating IgG level... OMIM:610163
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Microcephaly, Cryptorchidism, Optic atrophy, Brachycep... OMIM:615419
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Hip contracture, Kyphoscoliosis, Hyperlordosis, Accelerated skeletal maturation, Obesity, Advance... OMIM:618363
Uruguay Faciocardiomusculoskeletal Syndrome
Waddling gait, Congenital hip dislocation, Left ventricular hypertrophy, Kyphoscoliosis, Limited ... OMIM:300280
Lethal Congenital Contracture Syndrome 5
Congenital contracture, Flexion contracture, Centrally nucleated skeletal muscle fibers OMIM:615368
Immunoerythromyeloid Hypoplasia
Decreased circulating IgG level OMIM:242880
3-Methylglutaconic Aciduria Type 7
Abnormal pyramidal sign, Hypotonia, Spasticity, Opisthotonus, Choreoathetosis, Hypertonia, Abnorm... ORPHA:445038
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1
Distal lower limb amyotrophy, Impaired vibratory sensation, Thenar muscle atrophy, Babinski sign,... OMIM:500013
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Mild neurosensory hearing impairmen... OMIM:601152
Autosomal Recessive Spastic Ataxia-Optic Atrophy-Dysarthria Syndrome
Babinski sign, Optic atrophy, Progressive cerebellar ataxia, Lower limb hypertonia, Progressive g... ORPHA:254343
Immunodeficiency 15A
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:618204
Glycogen Storage Disease Due To Aldolase A Deficiency
Exercise-induced rhabdomyolysis, Decreased muscle mass, Viral infection-induced rhabdomyolysis, S... ORPHA:57
Glycogen Storage Disease X
Myopathy, Rhabdomyolysis OMIM:261670
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Hypotonia, Tetraplegia, Opisthotonus, Hypertonia OMIM:619272
3-Methylglutaconic Aciduria, Type Viib
Ataxia, Tremor, Flexion contracture, Hypotonia, Opisthotonus, Choreoathetosis, Hyperkinetic movem... OMIM:616271
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Sensory axonal neuropathy, Fasciculations, Foot dorsiflexor weakness OMIM:137200
Congenital Myopathy 24
Waddling gait, Scapular winging, Facial palsy, Gowers sign, Type 1 muscle fiber predominance, Nem... OMIM:617336
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency
Abnormal immunoglobulin level, Increased circulating IgE level, Decreased circulating antibody le... ORPHA:98813
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Osteopenia, Hip contracture, Facial hypotonia, Failure to thrive in infancy, Cachexia, Short neck... OMIM:616801
Combined Immunodeficiency, X-Linked
Decreased proportion of CD4-positive helper T cells, Decreased proportion of CD8-positive T cells... OMIM:312863
Choreoathetosis And Congenital Hypothyroidism With Or Without Pulmonary Dysfunction
Respiratory distress, Neonatal respiratory distress, Dystonia, Ataxia, Broad-based gait, Crackles... OMIM:610978
Intellectual Developmental Disorder, X-Linked 111
Unsteady gait, Kyphoscoliosis, Dystonia OMIM:301107
Spondylometaphyseal Dysplasia, Kozlowski Type
Waddling gait, Enlarged joints, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, D... OMIM:184252
Severe Combined Immunodeficiency, X-Linked
Impaired lymphocyte transformation with phytohemagglutinin, Reduced natural killer cell activity,... OMIM:300400
Immunodeficiency 104
Splenomegaly, T lymphocytopenia, Lymphadenopathy OMIM:608971
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome
Decreased nerve conduction velocity, Truncal obesity, Premature ovarian insufficiency, Muscle wea... ORPHA:2928
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Poor head control, Peripheral axonal neuropathy, Facial pals... OMIM:617519
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Abnormal vestibular function, Sensorineural hearing impairme... ORPHA:52368
Ataxia-Telangiectasia-Like Disorder 2
Ataxia, Congenital diaphragmatic hernia, Progressive muscle weakness, Unsteady gait, Joint contra... OMIM:615919
Combined Oxidative Phosphorylation Deficiency 8
Increased variability in muscle fiber diameter, Generalized muscle weakness, Failure to thrive OMIM:614096
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Developmental And Epileptic Encephalopathy 37
Rigidity, Chorea, Cogwheel rigidity, Choreoathetosis, Hyperkinetic movements, Gait disturbance, M... OMIM:616981
Achard Syndrome
Broad skull, Brachycephaly OMIM:100700
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Loss of ability to walk in early childhood, Respiratory insufficiency due to muscle weakness, Ina... OMIM:609560
Spastic Paraplegia 20, Autosomal Recessive
Kyphoscoliosis, Flexion contracture, Hyperextensible hand joints, Dysmetria, Ankle clonus, Distal... OMIM:275900
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Abnormal muscle fiber protein expression ORPHA:330054
Cranio-Cervical Dystonia With Laryngeal And Upper-Limb Involvement
Torticollis, Upper limb postural tremor, Hand tremor, Blepharospasm, Myoclonus, Limb dystonia, Or... ORPHA:420485
Canavan Disease
Abnormal pyramidal sign, Hypotonia, Opisthotonus OMIM:271900
Flynn-Aird Syndrome
Increased bone mineral density, Ataxia, Kyphoscoliosis, Joint stiffness, Osteoporosis, Increased ... OMIM:136300
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Axial muscle weakness, Scoliosis, Arthrogryposis multi... ORPHA:178148
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Chorea, Impaired proprioception, Dysmetria, Decreased ... OMIM:164400
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotrophy, Falls, Pelvi... OMIM:615156
Branchiootic Syndrome 1
Mixed hearing impairment, Dilatated internal auditory canal, Hypoplasia of the cochlea, Cupped ea... OMIM:602588
Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, And Stroke-Like Episodes
Left ventricular hypertrophy, Myopathy, Ragged-red muscle fibers OMIM:540000
Leukodystrophy, Hypomyelinating, 11
Ataxia, Tremor, CNS hypomyelination, Myoclonus, Leukodystrophy, Spasticity, Failure to thrive OMIM:616494
Myotonia With Skeletal Abnormalities And Mental Retardation
Kyphoscoliosis, Vertebral wedging, Genu valgum, Skeletal muscle hypertrophy, Firm muscles OMIM:255710
D-Glyceric Aciduria
Axial hypotonia, Spastic tetraplegia, Hypotonia, Opisthotonus, Myoclonus, Neonatal hypotonia, Spa... OMIM:220120
Congenital Cataract-Hypertrophic Cardiomyopathy-Mitochondrial Myopathy Syndrome
Myopathy ORPHA:1369
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Hypoventilation, Myositis, Absent muscle fiber merosin, Facial palsy, Hyperlordosis, Inability to... ORPHA:258
Neuropathy, Hereditary Sensory, X-Linked
Decreased number of peripheral myelinated nerve fibers OMIM:310470
Chst3-Related Skeletal Dysplasia
Waddling gait, Enlarged joints, Kyphoscoliosis, Flexion contracture, Abnormality of the elbow, Ab... ORPHA:263463
Alg11-Cdg
Axial hypotonia, Ataxia, Opisthotonus, Hypertonia, Infantile muscular hypotonia, Limb hypertonia ORPHA:280071
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Axonal loss, Myoclonus, Apraxia, Spasticity, Peripheral demyelination OMIM:221770
Rhizomelic Chondrodysplasia Punctata, Type 1
Calcific stippling of infantile cartilaginous skeleton, Kyphoscoliosis, Flexion contracture, Resp... OMIM:215100
Developmental And Epileptic Encephalopathy 31B
Appendicular spasticity, Clonus, Involuntary movements, Hypotonia, Opisthotonus, Myoclonus, Gener... OMIM:620352
Neuropathy, Hereditary Sensory And Autonomic, Type Ic
Decreased motor nerve conduction velocity, Anhidrosis, Distal muscle weakness, Impaired pain sens... OMIM:613640
Immunodeficiency 78 With Autoimmunity And Developmental Delay
Increased circulating IgG level, Increased circulating IgM level OMIM:619220
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 1
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Decreased number of peri... OMIM:607250
Intellectual Developmental Disorder, X-Linked 19
Small for gestational age, Scoliosis, Kyphoscoliosis OMIM:300844
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Poor head control, Ataxia, Spastic tetraparesis, Proximal muscle weaknes... ORPHA:3208
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis
Lymphopenia, Autoimmune hemolytic anemia, Plasmacytosis, Increased circulating antibody level OMIM:247800
Familial Dyskinesia And Facial Myokymia
Resting tremor, Axial hypotonia, Dystonia, Chorea, Myoclonus, Facial myokymia, Limb hypertonia ORPHA:324588
Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa, And Cataract
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Dys... OMIM:612674
Propionic Acidemia
Apnea, Tachypnea, Osteoporosis, Dystonia, Lethargy, Failure to thrive, Limb hypertonia OMIM:606054
Congenital Myopathy 16
Scapular winging, Postural tremor, Flexion contracture, Tongue tremor, EMG: myopathic abnormalities OMIM:618524
Combined Oxidative Phosphorylation Deficiency 31
Hypertonia, Left ventricular noncompaction, Increased intramyocellular lipid droplets, Increased ... OMIM:617228
Dystonia 26, Myoclonic
Torticollis, Blepharospasm, Myoclonus, Dystonia, Laryngeal dystonia OMIM:616398
Familial Infantile Bilateral Striatal Necrosis
Ataxia, Spastic tetraparesis, Rigidity, Babinski sign, Gait ataxia, Upper limb muscle weakness, C... ORPHA:225154
Hereditary Pulmonary Alveolar Proteinosis
Respiratory distress, Respiratory failure requiring assisted ventilation, Failure to thrive in in... ORPHA:264675
Glutamate-Cysteine Ligase Deficiency
Myopathy, Ataxia ORPHA:33574
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Waddling gait, Tremor, Inability to walk, Flexion contracture, Clumsiness, Eyelid myoclonus, Myoc... ORPHA:2590
Myotubular Myopathy With Abnormal Genital Development
Myopathy, Centrally nucleated skeletal muscle fibers OMIM:300219
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Waddling gait, Lower limb spasticity, Broad-based gait, Lumbar hyperlordosis, Ataxia, Inability t... OMIM:616756
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Facial diplegia, Type 1 muscle fiber ... ORPHA:171433
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Sensorineural hearing i... ORPHA:1215
Mitochondrial Myopathy And Sideroblastic Anemia
Myopathy, Generalized limb muscle atrophy ORPHA:2598
Idiopathic Bronchiectasis
Crackles, Productive cough, Cachexia, Dyspnea, Wheezing, Abnormal respiratory system physiology, ... ORPHA:60033
Malignant Hyperthermia, Susceptibility To, 2
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Anesthetic-ind... OMIM:154275
Brachytelephalangic Chondrodysplasia Punctata
Cervical kyphosis, Tachypnea, Hypoplastic cervical vertebrae, Vertebral hypoplasia, Neonatal resp... ORPHA:79345
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Sodium-Dependent Multivitamin Transporter Deficiency
Poor head control, Decreased circulating IgG level OMIM:618973
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Streak ovary, Distal muscle weakness, Abnormality of female external genitalia, Abnormal peripher... ORPHA:168563
Immunodeficiency 73C With Defective Neutrophil Chemotaxis And Hypogammaglobulinemia
Cervical lymphadenopathy, Decreased circulating total IgM, B lymphocytopenia, Abnormally low T ce... OMIM:618987
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Lethal Congenital Contracture Syndrome 9
Thoracic kyphoscoliosis, Elbow extension contracture, Centrally nucleated skeletal muscle fibers,... OMIM:616503
Histiocytosis, Familial Lipochrome
Increased circulating antibody level OMIM:235900
Dystonia 28, Childhood-Onset
Torticollis, Short stature, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Spast... OMIM:617284
Mitochondrial Dna Depletion Syndrome 7 (Hepatocerebral Type)
Ataxia, Involuntary movements, Decreased number of large peripheral myelinated nerve fibers, Babi... OMIM:271245
Myoglobinuria, Recurrent
Ragged-red muscle fibers OMIM:550500
Infantile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Poor head control, Cachexia, Decreased nerve cond... ORPHA:206436
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Hydrocephalus, Tall Stature, Joint Laxity, And Kyphoscoliosis
Thoracolumbar kyphosis, Joint laxity, Kyphoscoliosis OMIM:236660
Developmental And Epileptic Encephalopathy 16
Delayed myelination, Optic atrophy, Hemiparesis, Abnormality of extrapyramidal motor function, My... OMIM:615338
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Bulbar palsy, Parkinsonism, Muscle weakness, Paralysis OMIM:105500
Branchiootorenal Syndrome 1
Mixed hearing impairment, Facial palsy, Dilatated internal auditory canal, Hypoplasia of the coch... OMIM:113650
Cardiocranial Syndrome, Pfeiffer Type
Torticollis, Contracture of the proximal interphalangeal joint of the 2nd finger, Small hypothena... ORPHA:2872
Immunodeficiency 68
Abscess, Lymphadenitis, T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell count OMIM:612260
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Distal muscle weakness, Hyperlordosis, Fatty replacement of skeletal muscle, Weakn... ORPHA:52430
Sandhoff Disease
Kyphosis, Ataxia, Muscle weakness ORPHA:796
Periodic Fever, Familial, Autosomal Dominant
Myositis, Skin rash, Maculopapular exanthema, Oligoarthritis, Conjunctivitis, Erysipelas OMIM:142680
Immunodeficiency 13
Lymphopenia, T lymphocytopenia, B lymphocytopenia, Decreased proportion of CD4-positive helper T ... OMIM:615518
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Optic neuropathy, Tib... ORPHA:320375
Autosomal Recessive Spastic Paraplegia Type 44
Lower limb spasticity, Ataxia, Abnormal auditory evoked potentials, Sensorineural hearing impairm... ORPHA:320401
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Ataxia, Tachypnea, Respiratory failure, Gait disturbance, Loss of ambulation, Lethargy, Failure t... OMIM:615838
Ataxia-Pancytopenia Syndrome
Ataxia, Decreased nerve conduction velocity, Impaired vibration sensation in the lower limbs, Dys... OMIM:159550
Autosomal Dominant Spastic Paraplegia Type 17
Ankle weakness, Foot dorsiflexor weakness, Abnormal motor nerve conduction velocity, Distal senso... ORPHA:100998
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Ataxia, Ophthalmoplegia, Ragged-red muscle fibers, Flexion contracture, Babinski sign, Left ventr... OMIM:252011
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities
Failure to thrive in infancy, Short neck, External ophthalmoplegia, Spastic paraplegia, Flexion c... OMIM:619026
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Chronic Hiccup
Abnormality of the diaphragm, Weight loss ORPHA:396
Distal Deletion 10Q
Frontal bossing, Failure to thrive, Ataxia, Craniosynostosis, Microcephaly, Congenital sensorineu... ORPHA:96148
Spondyloepiphyseal Dysplasia Tarda
Back pain, Osteoarthritis of the distal interphalangeal joint, Limited elbow movement, Short neck... ORPHA:93284
Whipple Disease
Myositis, Pericarditis, Ataxia, Myocarditis, Abnormal pyramidal sign, Uveitis, Arthritis, Myoclon... ORPHA:3452
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Malignant Hyperthermia, Susceptibility To, 3
Exercise-induced rhabdomyolysis, Viral infection-induced rhabdomyolysis, Myopathy, Hypertonia, An... OMIM:154276
Spinocerebellar Ataxia, Autosomal Recessive 26
Distal muscle weakness, Impaired distal proprioception, Impaired distal vibration sensation, Unst... OMIM:617633
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Small for gestational age, Short neck, Delayed epiphyseal ossification, Tachypnea, Delayed skelet... OMIM:613320
Posterior Column Ataxia With Retinitis Pigmentosa
Skeletal muscle atrophy, Flexion contracture of finger, Ataxia, Optic atrophy, Camptodactyly, Joi... OMIM:609033
Pulmonary Blastoma
Weight loss, Dyspnea, Recurrent pneumonia, Cough ORPHA:64741
Interstitial Pneumonitis, Desquamative, Familial
Respiratory distress, Tachypnea, Respiratory failure, Cough, Failure to thrive OMIM:263000
Spinocerebellar Ataxia Type 37
Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myoclonus, Falls, Truncal ataxia... ORPHA:363710
Vocal Cord And Pharyngeal Distal Myopathy
Bulbar palsy, Distal muscle weakness, Abnormal morphology of musculature of pharynx, Ankle weakne... ORPHA:600
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Decreased sensory... OMIM:603472
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Ataxia, Kyphosis, Slurred speech, Platyspondyly, Scoliosis, Anterior bea... OMIM:230650
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive
Ankle flexion contracture, Respiratory insufficiency due to muscle weakness, Elbow flexion contra... OMIM:619461
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction
Ataxia, Microcephaly, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis, Failure... OMIM:618356
Progressive Nodular Histiocytosis
Cachexia ORPHA:158022
49,Xyyyy Syndrome
Low-set, posteriorly rotated ears, Decreased testicular size, Turricephaly, Eunuchoid habitus, Ex... ORPHA:99330
Spinocerebellar Ataxia 38
Peripheral axonal neuropathy, Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Congenital hip dis... OMIM:255800
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor function, Scol... OMIM:610743
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias
Absent specific antibody response, Decreased proportion of CD4+CD25+ regulatory T cells, Follicul... OMIM:619846
Neurodevelopmental Disorder With Spasticity And Poor Growth
Generalized dystonia, Ataxia, Clonus, Axial hypotonia, Achilles tendon contracture, Babinski sign... OMIM:618076
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy ORPHA:91130
Immunodeficiency 64 With Lymphoproliferation
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:618534
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, ... OMIM:616867
Myasthenia Gravis
Myositis, Bulbar palsy, Hepatitis, Ophthalmoparesis, Rheumatoid arthritis, Hashimoto thyroiditis,... ORPHA:589
Progressive Myoclonic Epilepsy With Dystonia
Delayed CNS myelination, Optic atrophy, Abnormal pyramidal sign, Hemiparesis, Abnormality of extr... ORPHA:352596
Combined Oxidative Phosphorylation Deficiency 28
Ragged-red muscle fibers OMIM:616794
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Bulbar palsy, Ataxia, Facial palsy, Proximal muscle... OMIM:211530
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Whistling Face Syndrome, Recessive Form
Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion contracture, Knee flexion... OMIM:277720
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Dystonia, Axial hypotonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, ... OMIM:606703
Immunodeficiency Due To Selective Anti-Polysaccharide Antibody Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... ORPHA:70593
Pyoderma Gangrenosum
Pustule, Myositis, Rheumatoid arthritis, Inflammation of the large intestine ORPHA:48104
Holocarboxylase Synthetase Deficiency
Respiratory distress, Ataxia, Tachypnea, Weight loss, Lethargy ORPHA:79242
Mitochondrial Complex I Deficiency, Nuclear Type 8
Axial dystonia, Stiff neck, Kyphoscoliosis, Respiratory insufficiency, Dystonia OMIM:618230
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Progressive external ophthalmoplegia, Facial palsy, Progressive muscle weakness, Limb muscle weak... OMIM:610131
Lesch-Nyhan Syndrome
Hypotonia, Opisthotonus, Choreoathetosis, Abnormality of extrapyramidal motor function, Dystonia,... OMIM:300322
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Distal muscle weakness, Diaphragmatic paralysis, Plantar flexion contrac... OMIM:620011
Testicular Regression Syndrome
Decreased testicular size, Abnormal male internal genitalia morphology, Hypoplasia of penis, Male... ORPHA:983
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Distal muscle weakness, Aganglionic megacolon, Ataxia, Short... OMIM:609136
Superficial Siderosis
Ataxia, Impaired temperature sensation, Impaired pain sensation, Vertigo, Abnormality of the vest... ORPHA:247245
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Paralysis, Hypotonia, Generalized hypotonia, Limb muscle weakness OMIM:612300
Epilepsy, Progressive Myoclonic, 8
Limb ataxia, Choreoathetosis, Gait disturbance, Myoclonus, Falls, Truncal ataxia, Action myoclonus OMIM:616230
Deafness, X-Linked 5, With Peripheral Neuropathy
Abnormal middle ear reflexes, Vertigo, Cochlear nerve hypoplasia, Abnormal speech discrimination,... OMIM:300614
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Abnormality of the sev... ORPHA:90117
Otosclerosis 8
Otosclerosis, Hearing impairment OMIM:612096
Otosclerosis 3
Otosclerosis, Hearing impairment OMIM:608244
Optic Atrophy 11
Decreased sensory nerve conduction velocity, Ataxia, Optic nerve hypoplasia, Microcephaly, Optic ... OMIM:617302
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo... OMIM:617675
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Left ventricular hypertrophy, Poor head control, Muscular dystrophy, Death in childhood OMIM:613153
Antisynthetase Syndrome
Myositis, Skin rash, Myocarditis, Keratoconjunctivitis sicca, Muscle weakness ORPHA:81
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome
Reduced delayed hypersensitivity, Increased circulating IgE level, Increased circulating IgM leve... OMIM:617241
Neutral Lipid Storage Myopathy
Progressive distal muscle weakness, Hand muscle weakness, Fatty replacement of skeletal muscle, G... ORPHA:98908
Wild Type Abeta2M Amyloidosis
Decreased nerve conduction velocity, Dysesthesia, Axonal loss, Paresthesia, Decreased amplitude o... ORPHA:85446
Japanese Encephalitis
Skeletal muscle atrophy, Weakness due to upper motor neuron dysfunction, Facial palsy, Paralysis,... ORPHA:79139
Charcot-Marie-Tooth Disease, Axonal, Type 2Ee
Peripheral axonal neuropathy, Distal muscle weakness, Decreased distal sensory nerve action poten... OMIM:618400
Neuromyelitis Optica Spectrum Disorder
Peripheral demyelination, Myelitis ORPHA:71211
Combined Immunodeficiency Due To Partial Rag1 Deficiency
Autoimmune hemolytic anemia, Splenomegaly, Neutropenia in presence of anti-neutropil antibodies, ... ORPHA:231154
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Tremor, Unsteady gait, Focal dystonia, Blepharospasm, Bradykinesia, Inappropriate... ORPHA:99750
Immunodeficiency, Common Variable, 4
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:613494
Sialidosis Type 1
Frontal bossing, Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, E... ORPHA:812
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Ataxia, Kyphosis, Gait disturbance, Scoliosis, Muscle weakness ORPHA:85317
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Inability to walk, Choreoathetosis, Dystonia, Joint contracture OMIM:617664
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Bulbar palsy, Facial palsy, Proximal muscle weakness, Kyphosis, Ophthalm... OMIM:617143
Pontocerebellar Hypoplasia, Type 1A
Ataxia, Spinal muscular atrophy, Hand tremor, Limb ataxia, Degeneration of anterior horn cells, C... OMIM:607596
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased number of peripheral myelinated nerve fibers, Peripheral axonal neuropathy, Decreased m... OMIM:615490
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Waddling gait, Osteopenia, Joint laxity, Camptodactyly of finger, Kyphoscoliosis, Thenar muscle a... OMIM:612350
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency
Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210200
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, Limb atax... ORPHA:276198
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Axial hypotonia, Ataxia, Hypotonia, Gait ataxia, Choreoathetosis, Opisthotonus, Generalized hypot... OMIM:619580
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Decreased hip abduction, Camptodactyly of finger, Th... OMIM:114300
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Myoclonu... ORPHA:363400
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia, Shuffling gait OMIM:303350
Neuropathy, Congenital Hypomyelinating, 3
Limb joint contracture, Cachexia, Flexion contracture, Respiratory insufficiency, Facial diplegia... OMIM:618186
Caspase 8 Deficiency
Complete or near-complete absence of specific antibody response to unconjugated pneumococcus vacc... OMIM:607271
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Respiratory insufficiency due to mu... OMIM:608931
Graft Versus Host Disease
Skeletal muscle atrophy, Fasciitis, Myositis, Dupuytren contracture, Maculopapular exanthema, Pne... ORPHA:39812
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Reduced vital capacity, Kyphoscoliosis, Hand muscle weak... ORPHA:99956
Mitochondrial Complex I Deficiency, Nuclear Type 14
Myopathy OMIM:618236
Wiskott-Aldrich Syndrome 2
Decreased proportion of CD8-positive T cells, Defective T cell proliferation, Thrombocytopenia, R... OMIM:614493
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Respiratory distress, Skeletal muscle atrophy, Thoracic scoliosis, Abnormality of skeletal muscle... OMIM:620278
Mitochondrial Complex Iv Deficiency, Nuclear Type 13
Patent ductus arteriosus, Tachypnea, Left ventricular noncompaction OMIM:616501
Codas Syndrome
Broad skull, Sensorineural hearing impairment, Cryptorchidism, Rectovaginal fistula, Conductive h... OMIM:600373
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Failure to thrive, Tachypnea, Decreased body weight OMIM:620085
Autosomal Recessive Spastic Paraplegia Type 21
Lower limb muscle weakness, Abnormality of peripheral nerve conduction ORPHA:101001
Pediatric Systemic Lupus Erythematosus
Myositis, Skin rash, Discoid lupus rash, Arthritis, Hemiplegia, Malar rash, Nephritis, Muscle wea... ORPHA:93552
Arthrogryposis-Like Hand Anomaly-Sensorineural Deafness Syndrome
Cachexia, Joint stiffness ORPHA:1144
Chronic Pneumonitis Of Infancy
Respiratory distress, Intercostal retractions, Reduced forced vital capacity, Tachypnea, Hypoxemi... ORPHA:91359
Arthrogryposis Multiplex Congenita 6
Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita OMIM:619334
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of
Exercise-induced rhabdomyolysis, Tachypnea, Hepatocellular necrosis, Respiratory arrest, Lethargy OMIM:201475
Frontotemporal Dementia With Motor Neuron Disease
Bulbar palsy, Distal muscle weakness, Weakness due to upper motor neuron dysfunction, Parkinsonis... ORPHA:275872
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Delayed CNS myelination, Ataxia, Paraparesis, Delayed myelination, Oromoto... OMIM:617854
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Sudden episodic apnea, Kyphoscoliosis, Scissor gait, Bradykinesia, Dystonia,... ORPHA:466722
Optic Atrophy 8
Sensorineural hearing impairment, Optic atrophy, Prolonged somatosensory evoked potentials, Abnor... OMIM:616648
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic disc pallor, Abnormal mitochondrial shape, Decreased nerve conduction velocity, External op... ORPHA:485421
49,Xxxyy Syndrome
Low-set, posteriorly rotated ears, Eunuchoid habitus, External genital hypoplasia, Abnormality of... ORPHA:261534
Mulibrey Nanism
Cachexia ORPHA:2576
Cerebrooculofacioskeletal Syndrome 4
Failure to thrive in infancy, Camptodactyly of finger, Kyphoscoliosis, Elbow flexion contracture,... OMIM:610758
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Ataxia, Decreased nerve conduction velocity, EEG ... ORPHA:206443
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Decreased circulating total IgM, Scoliosis, Decreased circulating IgG level, Decreased ... OMIM:300861
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Abnormal peripheral myelination, Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongu... ORPHA:466768
Avian Influenza
Respiratory distress, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, Tachypnea, Pneum... ORPHA:454836
Perrault Syndrome 3
Streak ovary, Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Mic... OMIM:614129
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome
Hip contracture, Cachexia, Short neck, Elbow flexion contracture, Spastic tetraplegia, Knee flexi... ORPHA:371364
Staphylococcal Necrotizing Pneumonia
Respiratory distress, Pneumonia, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, Acute inf... ORPHA:36238
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Patent ductus arteriosus, Tachypnea, Delayed skeletal maturation, Pulmonary arterial hypertension... OMIM:614857
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Peripheral axonal degeneration, Ataxia, Decreased number of large peripheral myelinated nerve fib... OMIM:208920
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Distal amyotrophy, Left ventricular hypertrophy, P... OMIM:205400
Oculogastrointestinal Muscular Dystrophy
External ophthalmoplegia, Skeletal muscle atrophy, Myopathy, Cachexia ORPHA:1876
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Nemaline bodies, Flexion contracture, Myopathy OMIM:616549
Congenital Fibrinogen Deficiency
Left ventricular hypertrophy, Right ventricular hypertrophy, Opisthotonus ORPHA:335
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia
Respiratory distress, Ataxia, Tachypnea, Respiratory insufficiency, Respiratory failure, Lethargy OMIM:614299
Cdkl5-Deficiency Disorder
Poor head control, Impaired pain sensation, Kyphosis, Gait disturbance, Scoliosis, Difficulty wal... ORPHA:505652
Congenital Myopathy 9A
EMG: myopathic abnormalities, Short stature, Tongue fasciculations, Akinesia OMIM:618822
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Flexion contracture, Panniculitis OMIM:619183
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Periodic hyperkalemic paralysis, Cerebral palsy, Flexion contracture, Sk... ORPHA:682
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Parkinsonism, Paraparesis, Tetra... OMIM:105550
Leukodystrophy, Hypomyelinating, 3
Joint contracture, Failure to thrive, Lower limb amyotrophy, Kyphoscoliosis OMIM:260600
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Axial hypotonia, Spastic tetraparesis, Paralysis, Chorea, Abnormal ... OMIM:272750
Congenital Muscular Dystrophy With Cerebellar Involvement
Hypoglycosylation of alpha-dystroglycan, Calf muscle pseudohypertrophy, Lumbar hyperlordosis, Clo... ORPHA:370959
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency
Absence of lymph node germinal center, Increased circulating IgE level, Lack of T cell function, ... ORPHA:277
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Spasticity, Fasciculations OMIM:614808
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Valinemia
Failure to thrive, Hyperkinetic movements OMIM:277100
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Cerebral palsy, Hypotonia, Opisthotonus, Generalized hypotonia OMIM:210210
Corticobasal Syndrome
Limb dystonia, Speech apraxia, Parkinsonism, Limb apraxia, Involuntary movements, Tremor, Oromoto... ORPHA:454887
Spastic Ataxia, Charlevoix-Saguenay Type
Progressive truncal ataxia, Spastic ataxia, Ataxia, Peroneal muscle atrophy, Decreased number of ... OMIM:270550
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Babinski sign, Optic atrophy, ... ORPHA:171629
Neurodevelopmental Disorder With Hyperkinetic Movements And Dyskinesia
Tremor, Failure to thrive, Myoclonus, Dystonia OMIM:619651
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency
Eosinophilia, Autoimmune thrombocytopenia, Increased circulating IgA level, Decreased proportion ... ORPHA:169154
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Acquired Partial Lipodystrophy
Myopathy ORPHA:79087
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Resting tremor, Broad-based gait, Kyphoscoliosis, Tremor, Obesity, Shuffling gait ORPHA:3077
Oculopharyngodistal Myopathy 1
Distal muscle weakness, Autophagic vacuoles, Facial palsy, Ataxia, Proximal muscle weakness, Trem... OMIM:164310
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease
Decreased motor nerve conduction velocity, Failure to thrive, Distal muscle weakness, Ataxia, Fac... ORPHA:456312
Alpers-Huttenlocher Syndrome
Ataxia, Paraparesis, Choreoathetosis, Myoclonus, Progressive spasticity, Spastic paraparesis, Spa... ORPHA:726
Deafness, Autosomal Dominant 80
Congenital sensorineural hearing impairment, Dilated vestibule of the inner ear, Cochlear aplasia OMIM:619274
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Impaired vibratory sensation, Decreased nerve conduction velocity, Dysmetria, Dysdiadochokinesis,... OMIM:238970
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Increased bone mineral density, Recurrent fractures, Kyphoscoliosis, Ost... OMIM:614856
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Delayed periphe... ORPHA:464282
Adenohypophysitis
Orthostatic hypotension, Decreased circulating cortisol level, Decreased female libido, Reduced c... ORPHA:95512
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome
Absent gallbladder, Posteriorly rotated ears, Hypospadias, Microcephaly, Broad skull, Cryptorchid... ORPHA:163979
Panhypophysitis
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:95513
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Lower limb spasticity, Skeletal muscle atrophy, Ataxia, Kyphosis, B... ORPHA:88644
Parkinsonism With Polyneuropathy
Decreased motor nerve conduction velocity, Decreased compound muscle action potential amplitude, ... OMIM:619279
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Basal lamina onion bulb formation, Spastic gait, Demyelinating peripheral neur... ORPHA:2821
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Respiratory insufficiency due to muscle weakness, Ragged-red muscle fibers, Generalized amyotroph... OMIM:613561
Multiple Synostoses Syndrome 4
Otosclerosis OMIM:617898
Crisponi/Cold-Induced Sweating Syndrome 1
Elbow flexion contracture, Facial palsy, Camptodactyly, Opisthotonus OMIM:272430
Diencephalic Syndrome
Cachexia, Decreased body weight ORPHA:1672
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Short stature, Myopathy, Gait disturbance ORPHA:85329
Functioning Gonadotropic Adenoma
Decreased response to growth hormone stimulation test, Pituitary gonadotropic cell adenoma, Isose... ORPHA:91348
Bor Syndrome
Facial palsy, Abnormality of the middle ear ossicles, External ear malformation, Hypoplasia of th... ORPHA:107
Myasthenic Syndrome, Congenital, 6, Presynaptic
Bulbar palsy, Respiratory insufficiency due to muscle weakness, Ophthalmoparesis, Fatigable weakn... OMIM:254210
Progressive Pseudorheumatoid Arthropathy Of Childhood
Irregularity of vertebral bodies, Wrist swelling, Irregular vertebral endplates, Abnormal hip joi... ORPHA:1159
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Poor head control, Respiratory insufficiency due to muscle weakness, Flexion contracture, Muscula... OMIM:615249
Lethal Ataxia With Deafness And Optic Atrophy
Decreased motor nerve conduction velocity, Ataxia, Congenital sensorineural hearing impairment, O... ORPHA:1187
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Incoordination, Limb joint contracture, Ataxia, Abnormal pyramidal sign,... ORPHA:309162
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Somatic sensory dysfunction, Proximal muscle weakness, Tremor, Gowers sign, Increased variability... ORPHA:502423
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Camptodactyly of finger, Cachexia, Short neck, Tremor, Kyphosis, Obesity, Joint... ORPHA:85293
Thyrocerebrorenal Syndrome
Slurred speech, Myoclonus, Nonprogressive cerebellar ataxia, Abnormality of the musculature of th... ORPHA:3327
Multiple Epiphyseal Dysplasia Due To Collagen 9 Anomaly
Waddling gait, Myopathy, Short stature ORPHA:166002
Developmental And Epileptic Encephalopathy 41
Inability to walk, Lethargy, Flexion contracture, Kyphoscoliosis OMIM:617105
Hypogonadotropic Hypogonadism 14 With Or Without Anosmia
Cryptorchidism, Hypogonadotropic hypogonadism, Decreased testicular size, Primary amenorrhea OMIM:614858
Perrault Syndrome 1
Ataxia, Increased circulating gonadotropin level, Sensorineural hearing impairment, Primary ameno... OMIM:233400
Leber Optic Atrophy
Postural tremor, Ataxia, Optic neuropathy, Optic atrophy, Myopathy, Dystonia OMIM:535000
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia
Decreased proportion of CD4-positive T cells, Autoimmune thrombocytopenia, Mediastinal lymphadeno... OMIM:300853
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Weakness of facial musculature, Ragged-red muscle fibers, Myopathy, Generalized amyotrophy ORPHA:352447
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation
Increased circulating IgG level, Increased circulating IgE level OMIM:618982
Huntington Disease-Like 2
Involuntary movements, Parkinsonism, Chorea, Weight loss, Gait disturbance ORPHA:98934
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Myoclonus, Dysmetria OMIM:618251
Spinocerebellar Ataxia Type 2
Kinetic tremor, Postural tremor, Parkinsonism, Chorea, Spinal cord posterior columns myelin loss,... ORPHA:98756
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, CNS hypomyelination, Myopathy, Weakness of fac... OMIM:616239
Immunodeficiency, Common Variable, 7
Chronic (near) absent circulating IgG4, Reduced isohemagglutinin level, Chronic partially decreas... OMIM:614699
Cerebrooculofacioskeletal Syndrome 1
Failure to thrive, Small for gestational age, Kyphoscoliosis, Recurrent pneumonia, Flexion contra... OMIM:214150
Neurodevelopmental Disorder With Involuntary Movements
Delayed CNS myelination, Involuntary movements, Chorea, Athetosis, Hyperkinetic movements, Dyston... OMIM:617493
Dpm1-Cdg
Ataxia, Delayed myelination, Optic atrophy, Knee flexion contracture, Muscular dystrophy, Camptod... ORPHA:79322
Kufor-Rakeb Syndrome
Torticollis, Ataxia, Parkinsonism, Tremor, Paraparesis, Rigidity, Babinski sign, Spastic parapleg... OMIM:606693
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Limb muscle weakness, Fasciculations OMIM:619141
Epidermodysplasia Verruciformis, Susceptibility To, 5
T lymphocytopenia, Lymphopenia OMIM:618309
Autosomal Dominant Brachyolmia
Increased vertebral height, Platyspondyly, Kyphoscoliosis ORPHA:93304
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Respiratory Distress Syndrome In Premature Infants
Respiratory distress, Dyspnea, Neonatal respiratory distress, Tachypnea OMIM:267450
Combined Oxidative Phosphorylation Defect Type 7
Decreased number of peripheral myelinated nerve fibers, Skeletal muscle atrophy, Peripheral axona... ORPHA:254930
Asthma, Short Stature, And Elevated Iga
Short stature, Increased circulating IgA level OMIM:208600
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Peroneal muscle weakness, Optic neu... ORPHA:101076
Congenital Disorder Of Glycosylation, Type Iik
Joint laxity, Failure to thrive, Osteoporosis, Kyphoscoliosis OMIM:614727
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia
Decreased circulating IgG level, Abnormally low T cell receptor excision circle level, Pancytopen... OMIM:618986
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Paresis of extensor muscles of the big toe, Postural tremor, Hand m... ORPHA:99947
Very Long Chain Acyl-Coa Dehydrogenase Deficiency
Respiratory distress, Exercise-induced rhabdomyolysis, Small for gestational age, Pneumonia, Epis... ORPHA:26793
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Hypoesthesia, Schwannoma, Pe... ORPHA:93921
Idiopathic Neonatal Atrial Flutter
Respiratory distress, Tachypnea, Large for gestational age ORPHA:45452
Surfactant Metabolism Dysfunction, Pulmonary, 4
Reduced forced expiratory volume in one second, Reduced forced vital capacity, Tachypnea, Restric... OMIM:300770
Ck Syndrome
Lumbar hyperlordosis, Slender build, Joint hypermobility, Kyphoscoliosis ORPHA:251383
Glycogen Storage Disease Iii
Myopathy, Distal amyotrophy OMIM:232400
Immunodeficiency 57 With Autoinflammation
Perianal abscess, Decreased circulating antibody level, T lymphocytopenia, B lymphocytopenia, Par... OMIM:618108
Otosclerosis 1
Conductive hearing impairment, Otosclerosis OMIM:166800
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Majeed Syndrome
Increased bone mineral density, Osteomyelitis, Cachexia, Flexion contracture, Bone pain, Synoviti... ORPHA:77297
Charcot-Marie-Tooth Disease Type 1E
Foot dorsiflexor weakness, Peroneal muscle weakness, Impaired temperature sensation, Decreased ne... ORPHA:90658
Spastic Paraplegia 39, Autosomal Recessive
Ataxia, Babinski sign, Distal amyotrophy, Gait disturbance, Distal lower limb muscle weakness, Pr... OMIM:612020
T-Cell Immunodeficiency With Thymic Aplasia
Aplasia of the thymus, Hepatosplenomegaly, T lymphocytopenia, Abnormally low T cell receptor exci... OMIM:242700
Developmental And Epileptic Encephalopathy 11
Hyperkinetic movements, Spastic tetraplegia OMIM:613721
Spinocerebellar Ataxia, Autosomal Recessive 10
Babinski sign, Dysmetria, Gait ataxia, Limb ataxia, Fasciculations, Truncal ataxia, Intention tremor OMIM:613728
Spinocerebellar Ataxia, Autosomal Recessive 20
Ataxia, Kyphoscoliosis, Inability to walk, Macroglossia, Scoliosis, Camptodactyly OMIM:616354
Myasthenic Syndrome, Congenital, 19
Bulbar palsy, Poor head control, Distal muscle weakness, Facial palsy, Spinal rigidity, Proximal ... OMIM:616720
Cerebellar Ataxia With Neuropathy And Bilateral Vestibular Areflexia Syndrome
Distal muscle weakness, Multiple joint contractures, Babinski sign, Dysmetria, Gait ataxia, Progr... ORPHA:504476
Microcephaly, Short Stature, And Impaired Glucose Metabolism 2
Kinetic tremor, Small for gestational age, Kyphoscoliosis, Hyperlordosis, Increased vertebral hei... OMIM:616817
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Progressive proximal mu... ORPHA:368
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:601859
Moynahan Syndrome
Cachexia ORPHA:2574
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Somatic sensory dysfunction, Limb ataxia, Gait ataxia OMIM:619862
Dk1-Cdg
Progressive muscle weakness, Failure to thrive ORPHA:91131
Lissencephaly Due To Lis1 Mutation
Axial hypotonia, Tetraplegia, Opisthotonus, Progressive spastic quadriplegia, Neonatal hypotonia ORPHA:95232
Immunodeficiency, Common Variable, 5
Chronic decreased circulating total IgG OMIM:613495
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Progressive external ophthalmoplegia, Distal muscle weakness, Cachexia, Hypoesthesia, Ragged-red ... OMIM:603041
Myoclonus, Cerebellar Ataxia, And Deafness
Ataxia, Myoclonus OMIM:159800
Ceroid Lipofuscinosis, Neuronal, 8
Loss of ambulation, Ataxia, Myoclonus OMIM:600143
Spinocerebellar Ataxia Type 1
Chorea, Optic atrophy, Impaired proprioception, Dysmetria, Ophthalmoparesis, Progressive cerebell... ORPHA:98755
Spermatogenic Failure 77
Male infertility, Multiflagellar spermatozoa, Cryptorchidism, Oligozoospermia, Azoospermia, Eleva... OMIM:620103
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Progressive external ophthalmoplegia, Facial palsy, Spinal rigidi... OMIM:615084
Phosphoglycerate Kinase 1 Deficiency
Myopathy, Rhabdomyolysis, Ataxia OMIM:300653
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Paraparesis, Rigidity, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Spondylocostal Dysostosis 1, Autosomal Recessive
Back pain, Vertebral fusion, Block vertebrae, Abnormal odontoid process morphology, Kyphoscoliosi... OMIM:277300
Contractural Arachnodactyly, Congenital
Osteopenia, Hip contracture, Congenital kyphoscoliosis, Kyphoscoliosis, Short neck, Patent ductus... OMIM:121050
Friedreich Ataxia
Decreased motor nerve conduction velocity, Diabetes mellitus, Chorea, Optic atrophy, Impaired pro... ORPHA:95
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Babinski sign, Abnormal pyramidal sign, Distal amyotrophy... OMIM:602099
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Opisthotonus ORPHA:3304
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Slurred speech, Truncal ataxia, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebellar atax... ORPHA:284289
Metachromatic Leukodystrophy
Ataxia, Chorea, Babinski sign, Optic atrophy, Spastic tetraplegia, Tetraplegia, Dystonia, Periphe... OMIM:250100
Epilepsy, Progressive Myoclonic, 11
Rigidity, Ataxia, Myoclonus, Intention tremor OMIM:618876
Bacterial Toxic-Shock Syndrome
Fasciitis, Sinusitis, Myositis, Pneumonia, Osteomyelitis, Skin rash, Glomerulonephritis, Recurren... ORPHA:36234
Eosinophilic Granulomatosis With Polyangiitis
Increased inflammatory response, Myositis, Sinusitis, Skin rash, Myocarditis, Hemiplegia/hemipare... ORPHA:183
Hereditary Sensory And Autonomic Neuropathy Type 1
Pain insensitivity, Distal muscle weakness, Impaired temperature sensation, Decreased amplitude o... ORPHA:36386
Developmental And Epileptic Encephalopathy 109
Delayed CNS myelination, Gait ataxia, Myoclonus, Left ventricular hypertrophy, Spasticity, Failur... OMIM:620145
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Skin rash, Pustule, Pustular rash, Malar rash OMIM:615934
Immunodeficiency With Hyper-Igm, Type 1
Dysgammaglobulinemia, Impaired Ig class switch recombination, Increased circulating IgA level, Im... OMIM:308230
Joubert Syndrome
Apnea, Episodic tachypnea, Ataxia, Tremor, Abnormal form of the vertebral bodies, Gait disturbanc... ORPHA:475
Pmp22-Rai1 Contiguous Gene Duplication Syndrome
Decreased number of peripheral myelinated nerve fibers, Distal muscle weakness, Abnormal pinna mo... ORPHA:477817
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Short neck, Respiratory insufficiency due to muscle weakness, Kyphosis, ... OMIM:611890
Immunodeficiency 85 And Autoimmunity
Decreased circulating IgG level, T lymphocytopenia, Decreased circulating total IgM, Decreased ci... OMIM:619510
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Congenital muscular dystrophy ORPHA:324416
Immunodeficiency Due To Defect In Mapbp-Interacting Protein
Decreased circulating total IgM, Short stature OMIM:610798
Ataxia, Combined Cerebellar And Peripheral, With Hearing Loss And Diabetes Mellitus
Decreased motor nerve conduction velocity, Sensorineural hearing impairment, Sensory ataxia, Gait... OMIM:616192
Thymoma
Myositis, Glomerulonephritis, Ulcerative colitis, Rheumatoid arthritis, Muscle weakness ORPHA:99867
Renpenning Syndrome
Skeletal muscle atrophy, Cachexia, Joint stiffness ORPHA:3242
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Exaggerated startle response, Inability to walk, Kyphosis, Babinski sign, Spastic paraplegia, Fle... OMIM:609541
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Weight loss, Myoclonus, T... OMIM:137440
Isolated Congenital Hypoglossia/Aglossia
Respiratory distress, Dyspnea, Upper airway obstruction, Weight loss, Aspiration pneumonia ORPHA:141152
Joubert Syndrome 23
Tachypnea, Apnea OMIM:616490
Immunodeficiency 102
Decreased circulating IgG level, Partial absence of specific antibody response to Haemophilus inf... OMIM:301082
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... OMIM:614153
Giant Axonal Neuropathy 1, Autosomal Recessive
Decreased number of peripheral myelinated nerve fibers, Facial palsy, Spastic paraplegia, Abnorma... OMIM:256850
Dystonia-Deafness Syndrome 1
Generalized dystonia, Small for gestational age, Oculogyric crisis, Kyphoscoliosis, Leg dystonia,... OMIM:607371
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
T lymphocytopenia, Panhypogammaglobulinemia, B lymphocytopenia OMIM:601457
High Altitude Pulmonary Edema
Orthopnea, Crackles, Dyspnea, Tachypnea, Hypoxemia, Cough ORPHA:330012
Spinocerebellar Ataxia 2
Ataxia, Parkinsonism, Postural tremor, Rigidity, Babinski sign, Unsteady gait, Dysmetria, Limb at... OMIM:183090
Polymyoclonus, Infantile
Ataxia, Myoclonus OMIM:263550
Pontocerebellar Hypoplasia, Type 1E
Elbow flexion contracture, Optic atrophy, Myoclonus, Knee flexion contracture OMIM:619303
Hyperlysinemia
Neck hypertonia, Poor motor coordination, Spastic tetraparesis, Tremor, Spastic diplegia, Dysmetr... ORPHA:2203
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Apnea, Short neck, Wrist flexion contracture, Abnormally ossified verteb... ORPHA:800
Atrial Standstill
Skeletal muscle atrophy, Dyspnea, Flexion contracture, Left ventricular noncompaction, Muscular d... ORPHA:1344
Mitochondrial Dna-Related Cardiomyopathy And Hearing Loss
Progressive external ophthalmoplegia, Ataxia, Ragged-red muscle fibers, Slurred speech, Ophthalmo... ORPHA:1349
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Optic nerve hypoplasia, Muscular dystrophy OMIM:615181
17Q24.2 Microdeletion Syndrome
Otosclerosis, Failure to thrive in infancy, Decreased response to growth hormone stimulation test... ORPHA:529962
Immune Deficiency, Familial Variable
Decreased circulating IgG level, Decreased circulating IgA level OMIM:146830
46,Xy Gonadal Dysgenesis With Minifascicular Neuropathy
Decreased number of peripheral myelinated nerve fibers OMIM:607080
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Progressive muscle weakness, Rhabdomyolysis... ORPHA:79240
Combined Oxidative Phosphorylation Defect Type 39
Optic disc pallor, Poor head control, Microcephaly, Decreased nerve conduction velocity, Cryptorc... ORPHA:565624
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Increased circulating IgE level, Short stature, Scoliosis ORPHA:1858
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities
Muscle fiber atrophy, Delayed CNS myelination, Flexion contracture OMIM:620240
Spinocerebellar Ataxia 25
Decreased number of peripheral myelinated nerve fibers, Ataxia, Babinski sign, Facial myokymia, O... OMIM:608703
Mitochondrial Complex I Deficiency, Nuclear Type 11
Myopathy OMIM:618234
Immunodeficiency, Common Variable, 3
Decreased circulating total IgM, Reduced isohemagglutinin level, Chronic decreased circulating to... OMIM:613493
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis
Opisthotonus OMIM:619685
Baker-Gordon Syndrome
Ataxia, Involuntary movements, Inability to walk, Choreoathetosis, Hyperkinetic movements, Atheto... OMIM:618218
Developmental And Epileptic Encephalopathy 92
Ataxia, Inability to walk, Myoclonus, Difficulty walking, Spasticity OMIM:617829
Perry Syndrome
Hypoventilation, Central hypoventilation, Akinesia, Tremor, Respiratory insufficiency, Weight los... OMIM:168605
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Increased intramyocellular lipid droplets, Dif... OMIM:255125
Immunodeficiency 44
Decreased circulating total IgM, Decreased circulating IgA level, Abnormal circulating IgG level OMIM:616636
Spondyloepiphyseal Dysplasia Tarda, Autosomal Dominant
Lumbar hyperlordosis, Kyphoscoliosis, Short neck, Avascular necrosis of the capital femoral epiph... OMIM:184100
Lymphoproliferative Syndrome, X-Linked, 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Decreased circulating antibody level,... OMIM:308240
46,Xy Complete Gonadal Dysgenesis
Male pseudohermaphroditism, Hypogonadotropic hypogonadism, Testicular dysgenesis, Polycystic ovaries ORPHA:242
Sheehan Syndrome
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Gonadotropin d... ORPHA:91355
Spastic Tetraplegia And Axial Hypotonia, Progressive
Lower limb spasticity, Exaggerated startle response, Axial hypotonia, Ataxia, Spastic tetraparesi... OMIM:618598
Abetalipoproteinemia
CNS demyelination, Ataxia, Peripheral demyelination OMIM:200100
Arthrogryposis, Distal, Type 2A
Joint dislocation, Hip contracture, Flexion contracture of finger, Failure to thrive, Small for g... OMIM:193700
Childhood-Onset Spasticity With Hyperglycinemia
Ataxia, Loss of ability to walk in early childhood, Babinski sign, Unsteady gait, Spastic diplegi... ORPHA:401866
Trigeminal Neuralgia
CNS demyelination, Cranial nerve compression, Allodynia, Peripheral demyelination ORPHA:221091
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy, Slurred speech, Ataxia, Myoclonus OMIM:274240
Muscle-Eye-Brain Disease
Myopathy, Hypertonia, Gait disturbance, Hemiplegia/hemiparesis ORPHA:588
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Weight loss, Rhabdomyolysis, Muscle weakness, Periodic paralysis OMIM:188580
Ataxia With Myoclonic Epilepsy And Presenile Dementia
Ataxia, Myoclonus OMIM:208700
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Flexion contracture, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Surfactant Metabolism Dysfunction, Pulmonary, 2
Respiratory distress, Nonspecific interstitial pneumonia, Spontaneous pneumothorax, Reduced force... OMIM:610913
Joubert Syndrome 9
Apnea, Episodic tachypnea, Scoliosis OMIM:612285
Developmental And Epileptic Encephalopathy 68
Exaggerated startle response, Clonus, Flexion contracture, Myoclonus, Spasticity, Failure to thrive OMIM:618201
Dystonia, Childhood-Onset, With Optic Atrophy And Basal Ganglia Abnormalities
Optic disc pallor, Limb joint contracture, Ataxia, Involuntary movements, Rigidity, Chorea, Babin... OMIM:617282
Xeroderma Pigmentosum, Complementation Group B
Ataxia, Microcephaly, Decreased nerve conduction velocity, Sensorineural hearing impairment, Opti... OMIM:610651
Acromicric Dysplasia
Decreased nerve conduction velocity ORPHA:969
46,Xx Gonadal Dysgenesis
Streak ovary, Ataxia, Premature ovarian insufficiency, Microcephaly, Increased circulating gonado... ORPHA:243
Amyotrophy, Monomelic
Upper limb muscle weakness, Interosseus muscle atrophy, Fasciculations OMIM:602440
Hyperphenylalaninemia, Bh4-Deficient, B
Severe muscular hypotonia, Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Generalized... OMIM:233910
Ichthyosis--Cheek--Eyebrow Syndrome
Kyphoscoliosis OMIM:146720
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Waddling gait, Kyphosis, Small for gestational age, Decreased body weight OMIM:618392
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis OMIM:612079
Leukodystrophy, Hypomyelinating, 2
Decreased motor nerve conduction velocity, Poor head control, Ataxia, Facial palsy, Optic atrophy... OMIM:608804
Otosclerosis 4
Otosclerosis, Mixed hearing impairment OMIM:611571
Neuromuscular Oculoauditory Syndrome
Poor head control, Posteriorly rotated ears, Decreased nerve conduction velocity, Sensorineural h... OMIM:618733
Variegate Porphyria
Paralysis OMIM:176200
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Cerebral Autosomal Recessive Arteriopathy-Subcortical Infarcts-Leukoencephalopathy
Spastic ataxia, Back pain, Kyphoscoliosis, Cervical spondylosis, Gait disturbance, Localized oste... ORPHA:199354
Agammaglobulinemia 10, Autosomal Dominant
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:619707
Leukodystrophy, Hypomyelinating, 24
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Hypothyroidism, Microcep... OMIM:619851
Multifocal Atrial Tachycardia
Dyspnea, Tachypnea, Lethargy ORPHA:3282
O'Sullivan-Mcleod Syndrome
Hand muscle weakness, Cold paresis, Intrinsic hand muscle atrophy, Upper limb muscle weakness, In... ORPHA:99965
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Clumsiness, Facial diplegia, Steppage gait, Fasciculations, Freq... ORPHA:521411
Immunodeficiency 89 And Autoimmunity
Reduced circulating interleukin 17A concentration, Reduced circulating interleukin 23 concentrati... OMIM:619632
Indifference To Pain, Congenital, Autosomal Recessive
Anhidrosis, Pain insensitivity, Impaired temperature sensation, Impaired proprioception, Hypohidr... OMIM:243000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Myopathy, Ataxia, Gait ataxia OMIM:613077
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 10
Scapular winging, Small thenar eminence, Distal lower limb muscle weakness, Tendon rupture, Fiber... OMIM:620080
Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Degeneration of anterior horn cells, Pseudobulbar paralysis, Fasciculati... OMIM:105400
Warburg Micro Syndrome 1
Failure to thrive, Osteoporosis, Joint hypermobility, Kyphoscoliosis OMIM:600118
B-Cell Expansion With Nfkb And T-Cell Anergy
Decreased circulating total IgM, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:616452
Peroxisome Biogenesis Disorder 4B
Ataxia, Decreased nerve conduction velocity, Sensorineural hearing impairment, Optic atrophy, Adr... OMIM:614863
Spinocerebellar Ataxia 10
Decreased nerve conduction velocity, Limb ataxia, Distal sensory impairment, Dysmetria, Gait atax... OMIM:603516
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Sensory axonal neuropathy, Abnormal autonomic nervous ... ORPHA:139578
Mixed Connective Tissue Disease
Myositis, Pericarditis, Skin rash, Gastritis, Myocarditis, Arthritis, Keratoconjunctivitis sicca ORPHA:809
Juvenile Neuronal Ceroid Lipofuscinosis
Loss of ambulation, Apnea, Episodic tachypnea, Aspiration pneumonia ORPHA:79264
Juvenile Huntington Disease
Broad-based gait, Ataxia, Rigidity, Chorea, Gait ataxia, Bradykinesia, Progressive cerebellar ata... ORPHA:248111
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Myositis, Psoriasiform dermatitis, Osteomyelitis, Eczema, Pneumonia, Recurrent skin infections, G... ORPHA:37042
Metachromatic Leukodystrophy, Late Infantile Form
Decreased nerve conduction velocity, Optic atrophy, Gait ataxia, Progressive gait ataxia, Bilater... ORPHA:309256
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myopathy, Rhabdomyolysis, Ataxia ORPHA:713
Post-Traumatic Pituitary Deficiency
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Decreased c... ORPHA:95619
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Impaired pain sensation, Inability to walk, Chorea, Kyphosis, Abnormal pyramidal sign, Gait ataxi... ORPHA:500180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Increased variability in muscle fiber diameter, Poor head control, Muscular dystrophy OMIM:616538
Agammaglobulinemia 4, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:613502
Weill-Marchesani Syndrome 2
Thickened helices, Broad skull, Brachycephaly OMIM:608328
Joubert Syndrome 18
Joint laxity, Trident pelvis, Kyphoscoliosis, Camptodactyly OMIM:614815
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Park... ORPHA:314632
Angiostrongyliasis
Distal muscle weakness, Increased circulating IgA level, Increased circulating specific IgE antib... ORPHA:74
Spinocerebellar Ataxia Type 19/22
Broad-based gait, Ataxia, Ophthalmoplegia, Poor coordination, Slurred speech, Limb ataxia, Cogwhe... ORPHA:98772
Combined Oxidative Phosphorylation Defect Type 27
Ragged-red muscle fibers, Tetraparesis, Involuntary movements, Upper limb postural tremor ORPHA:477774
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Ataxia, Kyphoscoliosis, Short neck, Hypoplasia of the odontoid process, ... OMIM:300232
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Pain insensitivity, Broad-based gait, Ataxia, Distal muscle weakness, Pr... OMIM:256810
Hsd10 Disease
Ataxia, Postnatal growth retardation, Tremor, Rigidity, Choreoathetosis, Gait disturbance, Myoclo... ORPHA:391417
Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant
Ataxia, Symmetric peripheral demyelination, Babinski sign, Pseudobulbar paralysis, Leukodystrophy... OMIM:169500
Fusariosis
Fasciitis, Sinusitis, Maculopapular exanthema, Myositis, Pneumonia, Osteomyelitis, Keratitis, Per... ORPHA:228119
Lipodystrophy Due To Peptidic Growth Factors Deficiency
Cachexia, Joint stiffness, Flexion contracture, Reduced bone mineral density, Weight loss ORPHA:1979
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
Osteopenia, Joint laxity, Kyphoscoliosis, Hip dislocation, Advanced ossification of carpal bones,... OMIM:615349
Developmental And Epileptic Encephalopathy 40
Small for gestational age, Spastic tetraparesis, Choreoathetosis, Myoclonus, Spasticity OMIM:617065
Joubert Syndrome 30
Tachypnea, Apnea OMIM:617622
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Proximal muscle weakness, Ragged-re... ORPHA:70595
Native American Myopathy
Joint laxity, Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber si... ORPHA:168572
Immunodeficiency 61
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG2 level, Decreased ... OMIM:300310
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Babinski sign, CNS hypomyelination, Hyperkinetic movements, Leukodystrop... OMIM:616420
Spinal And Bulbar Muscular Atrophy, X-Linked 1
Tremor, Calf muscle hypertrophy, Limb muscle weakness, Fasciculations OMIM:313200
Brachyolmia Type 4 With Mild Epiphyseal And Metaphyseal Changes
Irregular vertebral endplates, Platyspondyly, Lumbar scoliosis, Kyphoscoliosis OMIM:612847
Leukodystrophy, Hypomyelinating, 13
Lower limb spasticity, Exaggerated startle response, Prolonged brainstem auditory evoked potentia... OMIM:616881
Congenital Contractural Arachnodactyly
Congenital kyphoscoliosis, Camptodactyly of finger, Joint stiffness, Flexion contracture, Congeni... ORPHA:115
Neutropenia, Chronic Familial
Increased circulating antibody level OMIM:162700
Myoclonic-Atonic Epilepsy
Tremor, Delayed CNS myelination, Ataxia, Eyelid myoclonus OMIM:616421
Epilepsy, Rolandic, With Paroxysmal Exercise-Induced Dystonia And Writer'S Cramp
Paroxysmal dystonia, Writer's cramp, Hand tremor, Myoclonus OMIM:608105
Oromandibular Dystonia
Torticollis, Generalized dystonia, Weight loss, Blepharospasm, Hyperkinetic movements, Limb dysto... ORPHA:93958
Neutropenia, Severe Congenital, 2, Autosomal Dominant
Monocytosis, B lymphocytopenia, Neutropenia OMIM:613107
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Hemiparesis, Myopathy, Gai... ORPHA:98673
Meningioma
Decreased circulating cortisol level, Reduced circulating prolactin concentration, Neoplasm of th... ORPHA:2495
Joint Laxity, Short Stature, And Myopia
Joint hypermobility, Multiple joint dislocation, Cervical kyphosis, Kyphoscoliosis OMIM:617662
Hyper-Ige Syndrome 5, Autosomal Recessive, With Recurrent Infections
Decreased circulating IgG level, Decreased circulating total IgM, Increased circulating interleuk... OMIM:618944
Yuan-Harel-Lupski Syndrome
Decreased nerve conduction velocity, Gait ataxia, Distal sensory impairment, Failure to thrive, H... OMIM:616652
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1
Macroglossia, Increased circulating IgM level, Short stature, Decreased circulating IgA level OMIM:242860
Neonatal Acute Respiratory Distress Due To Sp-B Deficiency
Neonatal respiratory distress, Spontaneous neonatal pneumothorax, Tachypnea, Interstitial pneumon... ORPHA:217563
Ceroid Lipofuscinosis, Neuronal, 4 (Kufs Type)
Ataxia, Parkinsonism, Abnormality of extrapyramidal motor function, Myoclonus OMIM:162350
Neutral Lipid Storage Disease With Ichthyosis
Ataxia, Progressive proximal muscle weakness, Obesity, Myopathy, Shoulder girdle muscle weakness,... ORPHA:98907
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Parkinsonism, Hypertonia, Myoclonus, Apraxia, Oculomotor apraxia, Abnormal social behavio... ORPHA:1020
S-Adenosylhomocysteine Hydrolase Deficiency
Delayed myelination, Failure to thrive, Muscular dystrophy, CNS hypomyelination ORPHA:88618
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Small for gestational age ORPHA:85288
Creutzfeldt-Jakob Disease
Hemiparesis, Extrapyramidal muscular rigidity, Myoclonus, Gait ataxia OMIM:123400
Neuropathy, Hereditary Sensory And Autonomic, Type Iia
Decreased number of peripheral myelinated nerve fibers, Anhidrosis, Decreased nerve conduction ve... OMIM:201300
Osteogenesis Imperfecta, Type Xi
Osteopenia, Joint laxity, Recurrent fractures, Kyphoscoliosis, Protrusio acetabuli, Vertebral wed... OMIM:610968
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking OMIM:613608
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Hypertonia, Cachexia ORPHA:1389
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Facial palsy, Hyperlordosis, Tremor, Inability to walk,... OMIM:128100
Joubert Syndrome 3
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:608629
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Tetraparesis, Dystonia, Spasticity OMIM:615924
Otosclerosis 10
Otosclerosis OMIM:615589
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Postural tremor, Kyphoscoliosis, Tip-toe gait, Spastic gait ORPHA:447760
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Increased sarcoplasmic glycogen, Progressive muscle weakness, Increased ... ORPHA:264580
Pontocerebellar Hypoplasia Type 4
Arthrogryposis multiplex congenita, Hypertonia, Myoclonus ORPHA:166063
Ataxia-Oculomotor Apraxia 3
Ataxia, Dysmetria, Distal sensory impairment, Distal amyotrophy, Oculomotor apraxia, Frequent fal... OMIM:615217
Molybdenum Cofactor Deficiency, Complementation Group B
Hypotonia, Spastic tetraplegia, Opisthotonus, Hypertonia, Myoclonic spasms OMIM:252160
Sialidosis Type 2
Skeletal muscle atrophy, Ataxia, Tremor, Kyphosis, Flexion contracture, Muscle weakness ORPHA:87876
Hyperparathyroidism, Neonatal Severe
Calcinosis, Recurrent fractures, Dyspnea, Tachypnea, Failure to thrive OMIM:239200
Coccidioidomycosis
Abnormal sperm morphology, Abnormality of the endocrine system, Broad skull, Abnormality of the m... ORPHA:228123
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Respiratory ins... ORPHA:365
Acute Lung Injury
Respiratory distress, Pneumonia, Dyspnea, Tachypnea, Hypoxemia, Respiratory failure ORPHA:178320
Immunodeficiency 27A
Increased circulating IgG level, Increased circulating IgM level OMIM:209950
Methionine Malabsorption Syndrome
Tachypnea OMIM:250900
Axial Osteomalacia
Myopathy OMIM:109130
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Ceroid Lipofuscinosis, Neuronal, 5
Ataxia, Limb tremor, Dysmetria, Clumsiness, Dysdiadochokinesis, Myoclonus, Loss of ambulation OMIM:256731
Congenitally Uncorrected Transposition Of The Great Arteries
Small for gestational age, Patent ductus arteriosus, Tachypnea, Hypoxemia, Failure to thrive, Rig... ORPHA:860
47,Xyy Syndrome
Male infertility, Hypospadias, Cryptorchidism, Increased circulating gonadotropin level, Macrocep... ORPHA:8
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Spinal rigidity, Skeletal muscle hypertrophy, Macroglossia, Congenital contracture, Muscular dyst... OMIM:613150
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Idiopathic Achalasia
Wheezing, Weight loss, Recurrent aspiration pneumonia, Cough ORPHA:930
Immunodeficiency 81
Decreased proportion of CD4-positive T cells, Recurrent cutaneous abscess formation, Autoimmune h... OMIM:619374
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,... OMIM:617435
Activated Pi3K-Delta Syndrome
Increased circulating IgM level, Decreased circulating antibody level ORPHA:397596
Orofaciodigital Syndrome Xi
Hypoplasia of the odontoid process, Kyphoscoliosis OMIM:612913
Epilepsy, Progressive Myoclonic, 12
Difficulty walking, Ataxia, Myoclonus, Dysmetria OMIM:619191
Gangliocytoma
Distal muscle weakness, Decreased female libido, Pituitary null cell adenoma, Elevated circulatin... ORPHA:251937
Ceroid Lipofuscinosis, Neuronal, 1
Spasticity, Flexion contracture, Ataxia, Myoclonus OMIM:256730
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Camptodactyly, Arthrogryposis multiplex congenita OMIM:618393
13Q12.3 Microdeletion Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Obesity, Camptodactyly, Failure to thrive ORPHA:412035
Brody Disease
Skeletal muscle hypertrophy, Flexion contracture, Fasciculations OMIM:601003
Sweet Syndrome
Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Pustule, Oligoarthritis, Inflammati... ORPHA:3243
7Q31 Microdeletion Syndrome
Hypoplasia of the cochlea, Plagiocephaly, Hypoplasia of the semicircular canal, Low-set ears, Mac... ORPHA:251061
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Ataxia, Involuntary movements, Delayed myelination, Choreoathetosis, Dystonia, Spasticity, Limb h... OMIM:615905
Perrault Syndrome 4
Premature ovarian insufficiency, Increased circulating gonadotropin level, Obesity, Secondary ame... OMIM:615300
Spinocerebellar Ataxia 19
Postural tremor, Limb ataxia, Cogwheel rigidity, Gait ataxia, Progressive cerebellar ataxia, Myoc... OMIM:607346
Neu-Laxova Syndrome
Skeletal muscle atrophy, Flexion contracture, Opisthotonus, Muscular dystrophy, Arthrogryposis mu... ORPHA:2671
Cervical Hypertrichosis With Underlying Kyphoscoliosis
Kyphoscoliosis OMIM:117850
Aphalangia, Partial, With Syndactyly And Duplication Of Metatarsal Iv
Kyphoscoliosis OMIM:600384
Complete Atrioventricular Septal Defect
Intercostal retractions, Crackles, Wheezing, Tachypnea, Recurrent pneumonia, Elevated pulmonary a... ORPHA:1329
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Elevated c... OMIM:300845
Ectodermal Dysplasia And Immunodeficiency 1
Dysgammaglobulinemia, Reduced natural killer cell activity, Increased circulating IgA level, Incr... OMIM:300291
Non-Specific Early-Onset Epileptic Encephalopathy
Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Optic atrophy, Myoc... ORPHA:442835
Mitochondrial Complex Iii Deficiency, Nuclear Type 5
Small for gestational age, Episodic tachypnea OMIM:615160
Mitochondrial Complex I Deficiency, Nuclear Type 12
Ataxia, Unsteady gait, Choreoathetosis, Myoclonus, Gait imbalance, Frequent falls OMIM:301020
Neurodevelopmental Disorder With Seizures And Nonepileptic Hyperkinetic Movements
Choreoathetosis, Inability to walk, Hyperkinetic movements, Myoclonus OMIM:618497
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture, Gait disturbance ORPHA:85193
Metachromatic Leukodystrophy, Juvenile Form
Decreased nerve conduction velocity, Optic atrophy, Progressive gait ataxia, Bilateral sensorineu... ORPHA:309263
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy
Impaired lymphocyte transformation with phytohemagglutinin, T lymphocytopenia, B lymphocytopenia,... OMIM:619313
Microsporidiosis
Myositis, Sinusitis, Osteomyelitis, Cholangitis, Pneumonia, Keratitis, Lymphadenitis, Prostatitis... ORPHA:2552
Spastic Paraplegia 79B, Autosomal Recessive
Lower limb spasticity, Ataxia, Postural tremor, Head titubation, Hoffmann sign, Flexion contractu... OMIM:615491
Acute Interstitial Pneumonia
Crackles, Nonproductive cough, Dyspnea, Tachypnea, Bronchiectasis, Hypoxemia, Respiratory failure... ORPHA:79126
Molybdenum Cofactor Deficiency, Complementation Group A
Spastic tetraparesis, Spastic tetraplegia, Opisthotonus, Abnormal muscle tone, Myoclonic spasms OMIM:252150
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Loss of ambulation OMIM:614018
Immunodeficiency 36 With Lymphoproliferation
Short stature, Growth delay, Increased circulating IgM level, Decreased circulating IgG level, De... OMIM:616005
Crouzon Syndrome
Frontal bossing, Turricephaly, Optic atrophy, Brachycephaly, Multiple suture craniosynostosis, Co... ORPHA:207
Juvenile Dermatomyositis
Calcinosis, Myositis, Pericarditis, Skin rash, Arthritis, Muscle weakness ORPHA:93672
Coffin-Siris Syndrome 6
Wormian bones, Diaphragmatic eventration, Kyphoscoliosis OMIM:617808
Spinocerebellar Ataxia 13
Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progressive cerebellar ataxia, Myoclonus, Spas... OMIM:605259
Surfactant Metabolism Dysfunction, Pulmonary, 3
Respiratory distress, Neonatal respiratory distress, Nonspecific interstitial pneumonia, Apnea, F... OMIM:610921
Myasthenic Syndrome, Congenital, 16
External ophthalmoplegia, Fatigable weakness, Periodic paralysis OMIM:614198
Toxin-Mediated Infectious Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:230800
Tuberculosis
Weight loss, Cough ORPHA:3389
Schnitzler Syndrome
Increased circulating IgM level ORPHA:37748
Hyper-Ige Syndrome 4B, Autosomal Recessive, With Recurrent Infections
Thoracolumbar scoliosis, Increased circulating IgE level, Macroglossia, Scoliosis, Joint contract... OMIM:618523
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Kyphoscoliosis, Flexion contracture, Joint hyperflexibility ORPHA:75496
Joubert Syndrome With Oculorenal Defect
Scoliosis, Tachypnea, Apnea, Ataxia ORPHA:2318
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Oculogyric crisis, Chorea, Hyperkinetic movements, Myoclonus, Dystonia, Spasticity OMIM:614254
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Spinal muscular atrophy, Patent ductus arteriosus, Flexion contracture, Increased variability in ... OMIM:616866
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers... ORPHA:99949
Spermatogenic Failure, X-Linked, 4
Male infertility, Elevated circulating luteinizing hormone level, Abnormal prolactin level, Azoos... OMIM:301077
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Hypertonia, Slender build, Limb tremor, Myoclonus OMIM:300699
Hurler-Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment ORPHA:93476
Cardiomyopathy, Dilated, 2H
Tachypnea, Cardiorespiratory arrest OMIM:620203
Transcobalamin Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... ORPHA:859
Apert Syndrome
Frontal bossing, Cloverleaf skull, Sensorineural hearing impairment, Optic atrophy, Abnormal semi... ORPHA:87
Abcd Syndrome
Aganglionic megacolon, Abnormal auditory evoked potentials, Total intestinal aganglionosis, Neona... OMIM:600501
Multicentric Osteolysis, Nodulosis, And Arthropathy
Osteopenia, Hip contracture, Wide cranial sutures, Interphalangeal joint contracture of finger, A... OMIM:259600
X-Linked Creatine Transporter Deficiency
Ataxia, Cachexia, Athetosis, Joint hyperflexibility, Dystonia ORPHA:52503
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Proximal muscle weakness in upper limbs, Distal lower limb amyotrophy, Diaph... OMIM:606071
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Diastasis recti, Short neck, Inability to walk, Progressive muscle weakn... ORPHA:488632
Immunodeficiency, Common Variable, 14
Decreased circulating total IgM, Decreased specific antibody response to vaccination, Decreased c... OMIM:617765
Metachromatic Leukodystrophy, Adult Form
Decreased nerve conduction velocity, Chorea, Optic atrophy, Progressive gait ataxia, Bilateral se... ORPHA:309271
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Joint laxity, Torticollis, Thoracic scoliosis, Kyphoscoliosis, Inability to walk,... ORPHA:300570
46,Xy Sex Reversal 8
Sex reversal, Cryptorchidism, Male pseudohermaphroditism, Ambiguous genitalia OMIM:614279
Salt And Pepper Developmental Regression Syndrome
Choreoathetosis, Failure to thrive, Optic atrophy, Myoclonus OMIM:609056
X-Linked Dystonia-Parkinsonism
Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospasm, Bradykinesi... ORPHA:53351
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Myoclonus OMIM:615127
Adrenal Hypoplasia, Congenital
Failure to thrive, Muscular dystrophy OMIM:300200
Infant Acute Respiratory Distress Syndrome
Pneumonia, Nasal flaring, Tachypnea, Hypoxemia, Respiratory failure ORPHA:70587
Cardiac-Valvular Ehlers-Danlos Syndrome
Joint dislocation, Genu recurvatum, Thoracolumbar scoliosis, Kyphoscoliosis, Recurrent shoulder d... ORPHA:230851
Deafness, Autosomal Recessive 118, With Cochlear Aplasia
Abnormal vestibular function, Congenital sensorineural hearing impairment, Cochlear aplasia OMIM:619553
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Silver-Russell Syndrome
Decreased muscle mass, Failure to thrive in infancy, Cachexia, Delayed skeletal maturation, Obesi... ORPHA:813
Lassa Fever
Back pain, Increased circulating IgM level, Muscle weakness ORPHA:99824
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities
Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter OMIM:619173
Pelizaeus-Merzbacher Disease, Connatal Form
Lower limb spasticity, Ataxia, Abnormal morphology of musculature of pharynx, Titubation, Abnorma... ORPHA:280210
Mitochondrial Dna-Associated Leigh Syndrome
Ataxia, Segmental peripheral demyelination/remyelination, Chorea, Ragged-red muscle fibers, Optic... ORPHA:255210
Immunodeficiency 62
Decreased circulating IgG level, Decreased circulating total IgM, Reduced isohemagglutinin level,... OMIM:618459
Osteogenesis Imperfecta, Type Xvii
Joint laxity, Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Osteoporosis, Hip dislo... OMIM:616507
Immunodeficiency, Common Variable, 11
Growth delay, Decreased circulating IgG level, Increased circulating IgE level OMIM:615767
Rahman Syndrome
Accelerated skeletal maturation, Kyphoscoliosis, Camptodactyly OMIM:617537
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Fasciculations OMIM:616437
Pontocerebellar Hypoplasia, Type 4
Congenital contracture, Hypertonia, Myoclonus, Spasticity OMIM:225753
Spinocerebellar Ataxia 17
Broad-based gait, Ataxia, Parkinsonism, Rigidity, Chorea, Dysmetria, Gait ataxia, Limb ataxia, Br... OMIM:607136
Growth Hormone Insensitivity Syndrome With Immune Dysregulation 2, Autosomal Dominant
Postnatal growth retardation, Increased circulating IgE level, Short stature, Delayed puberty OMIM:618985
Osteogenesis Imperfecta, Type Iv
Otosclerosis, Hearing impairment OMIM:166220
Geroderma Osteodysplasticum
Osteopenia, Hyperextensibility of the finger joints, Recurrent fractures, Kyphoscoliosis, Vertebr... OMIM:231070
Anauxetic Dysplasia 2
Thoracolumbar kyphoscoliosis, Ovoid vertebral bodies, Hyperlordosis, Short neck, Posterior wedgin... OMIM:617396
Deafness, X-Linked 2
Stapes ankylosis, Mixed hearing impairment, Dilatated internal auditory canal, Congenital sensori... OMIM:304400
Autosomal Recessive Spastic Paraplegia Type 23
Waddling gait, Hip dislocation, Spastic gait, Kyphoscoliosis ORPHA:101003
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Paralysis, Fatigable weakness of bulbar muscles, Generalized muscle weak... ORPHA:803
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Cachexia, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis
Decreased proportion of CD8-positive T cells, Decreased circulating total IgM, Decreased proporti... OMIM:611926
Arthrogryposis Multiplex Congenita 5
Neonatal respiratory distress, Akinesia, Short neck, Kyphoscoliosis, Flexion contracture, Elbow f... OMIM:618947
Congenital Adrenal Hyperplasia Due To 17-Alpha-Hydroxylase Deficiency
Bifid scrotum, Decreased circulating cortisol level, Bilateral cryptorchidism, Blind vagina, Ambi... ORPHA:90793
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Flexion contracture, Babinski sign, Dysmetria, Gait ataxia, Distal amyotrophy, Hy... OMIM:616505
Bruck Syndrome 1
Joint laxity, Hip contracture, Protrusio acetabuli, Ankle flexion contracture, Kyphosis, Elbow fl... OMIM:259450
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276241
Weill-Marchesani Syndrome 1
Broad skull, Brachycephaly OMIM:277600
Serotonin Syndrome
Tremor, Tachypnea, Rhabdomyolysis ORPHA:43116
Pituitary Carcinoma
Enlarged pituitary gland, Ataxia, Elevated circulating growth hormone concentration, Pituitary co... ORPHA:300385
Narp Syndrome
Short stature, Ataxia, Babinski sign, Progressive gait ataxia, Myoclonic spasms, Abnormal mitocho... ORPHA:644
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome
Joint laxity, Broad-based gait, Small for gestational age, Kyphoscoliosis, Short neck, Scoliosis,... ORPHA:391408
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Frontal bossing, Decreased thyroid-stimulating hormone level, Anterior pituitary hypoplasia, Redu... OMIM:613038
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Respiratory distress, Osteopenia, Multiple joint contractures, Multiple joint dislocation, Repeat... ORPHA:536467
Warburg Micro Syndrome 3
Decreased muscle mass, Kyphoscoliosis, Inability to walk, Flexion contracture, Ankle clonus OMIM:614222
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy
Cerebral hypomyelination, Increased variability in muscle fiber diameter, Type 1 muscle fiber pre... OMIM:612949
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Growth delay, Increased circulating IgG level, Increased circulating IgE level, Decreased circula... OMIM:243700
Friedreich Ataxia
Impaired vibratory sensation, Diabetes mellitus, Ataxia, Optic atrophy, Impaired proprioception, ... OMIM:229300
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal respiratory distress, Apnea, Dyspnea, Tachypnea, Respiratory failure, Pulmonary arterial... OMIM:265120
Cockayne Syndrome B
Anhidrosis, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Microcephaly,... OMIM:133540
Combined Oxidative Phosphorylation Deficiency 11
Delayed myelination, CNS hypomyelination, Myopathy, Myoclonus, Tongue fasciculations OMIM:614922
Tetrasomy 12P
Joint hyperflexibility, Delayed skeletal maturation, Cachexia, Short neck ORPHA:884
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Orchitis, Peritonitis, Uveitis, Arthritis, Conjunct... ORPHA:32960
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative
Impaired lymphocyte transformation with phytohemagglutinin, Absent natural killer cells, Absent p... OMIM:600802
Spermatogenic Failure 14
Male infertility, Abnormal circulating testosterone concentration, Abnormal prolactin level, Azoo... OMIM:615842
Neurodevelopmental Disorder With Eye Movement Abnormalities And Ataxia
Delayed CNS myelination, Ataxia, Myoclonus, Dystonia, Spasticity OMIM:620094
Huntington Disease
Clonus, Involuntary movements, Rigidity, Inability to walk, Chorea, Babinski sign, Generalized mu... ORPHA:399
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Gait disturbance, Scoliosis ORPHA:2429
Autosomal Recessive Spastic Paraplegia Type 25
Paraparesis, Spastic paraplegia, Cervical spondylosis, Abnormal lumbar spine morphology, Herniati... ORPHA:101005
Mitochondrial Complex Iv Deficiency, Nuclear Type 2
Respiratory distress, Myopathy, Lethargy, Limb dystonia, Increased variability in muscle fiber di... OMIM:604377
Benign Adult Familial Myoclonic Epilepsy
Myoclonus, Hand tremor ORPHA:86814
Developmental And Epileptic Encephalopathy 72
Delayed CNS myelination, Hyperkinetic movements OMIM:618374
Behçet Disease
Increased inflammatory response, Myositis, Pericarditis, Acne, Ataxia, Orchitis, Retrobulbar opti... ORPHA:117
Hyperphenylalaninemia, Bh4-Deficient, C
Tremor, Choreoathetosis, Hypertonia, Myoclonus, Dystonia OMIM:261630
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Joint dislocation, Arthropathy, Limited hip extension, Genu recurvatum, Short neck, Flexion contr... OMIM:143095
Spermatogenic Failure 28
Male infertility, Elevated circulating luteinizing hormone level, Non-obstructive azoospermia, El... OMIM:618086
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Decreased thyroid-stimulating hormone level, Ectopic posterior pituitary, Thyroid hypoplasia, Hyp... ORPHA:226307
Chanarin-Dorfman Syndrome
Myopathy, Ataxia OMIM:275630
Myopathy, Myofibrillar, 1
EMG: myopathic abnormalities, Facial palsy OMIM:601419
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Ataxia, Parkinsonism, Rigidity, Babinsk... ORPHA:101150
Familial Partial Lipodystrophy, Dunnigan Type
Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size ORPHA:2348
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Ataxia, Babinski sign, Gait ataxia, Hyperkinetic movements, Loss of ambu... OMIM:620089
Chromosome Xq27.3-Q28 Duplication Syndrome
Small for gestational age, Cryptorchidism, Increased circulating gonadotropin level, Abdominal ob... OMIM:300869
Camurati-Engelmann Disease
Waddling gait, Skeletal muscle atrophy, Ataxia, Facial palsy, Cachexia, Hyperlordosis, Kyphosis, ... ORPHA:1328
Ane Syndrome
Decreased serum insulin-like growth factor 1, Hypogonadotropic hypogonadism, Anterior pituitary h... ORPHA:157954
Cerebrooculofacioskeletal Syndrome 2
Small for gestational age, Camptodactyly of finger, Kyphoscoliosis OMIM:610756
Epilepsy, Familial Adult Myoclonic, 5
Tremor, Myoclonus OMIM:615400
Congenital Disorder Of Glycosylation, Type In
Spasticity, Short stature, Myoclonus, Ataxia OMIM:612015
Microcephalic Primordial Dwarfism, Toriello Type
Decreased circulating IgG level, Intrauterine growth retardation, Severe short stature, Decreased... ORPHA:2643
Cockayne Syndrome A
Anhidrosis, Abnormal pinna morphology, Ataxia, Abnormal auditory evoked potentials, Microcephaly,... OMIM:216400
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Poor head control, Distal muscle weakne... ORPHA:98915
Developmental And Epileptic Encephalopathy 6B
Ataxia, Inability to walk, Chorea, Choreoathetosis, Hyperkinetic movements, Myoclonus OMIM:619317
Autism Spectrum Disorder Due To Auts2 Deficiency
Cerebral palsy, Small for gestational age, Kyphosis, Congenital contracture, Hypertonia, Joint co... ORPHA:352490
Proteus Syndrome
Spinal canal stenosis, Kyphoscoliosis OMIM:176920
Progressive Supranuclear Palsy-Corticobasal Syndrome
Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyramidal sign, Focal dystonia, B... ORPHA:240103
Fryns-Smeets-Thiry Syndrome
Cachexia, Patellar aplasia, Hip dislocation, Joint hyperflexibility, Scoliosis ORPHA:2058
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Cryptorchidism, Optic atrophy, Brachyce... OMIM:615663
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Axial hypotonia, Elbow flexion contracture, Hypotonia, Opisthotonus, Hypertonia, Generalized hypo... ORPHA:508533
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Apneic episodes in infancy, Episodic tachypnea ORPHA:163961
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Chilblains, Tremor, Hemi... ORPHA:51
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Bilateral cryptorchidism, Cryptorchidism, Large e... OMIM:305400
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Autoimmune Lymphoproliferative Syndrome, Type Iia
Increased circulating IgA level, Increased circulating IgG level, Increased circulating IgM level... OMIM:603909
Adult-Onset Cervical Dystonia, Dyt23 Type
Torticollis, Neck muscle hypertrophy, Unsteady gait, Limb tremor, Myoclonus, Head tremor, Difficu... ORPHA:420492
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Short stature, Loss of ability to walk in early childhood, Inability to ... OMIM:612073
Riddle Syndrome
Decreased circulating IgG level, Short stature OMIM:611943
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Abnormal social behavior ORPHA:436151
D-Bifunctional Protein Deficiency
Frontal bossing, Decreased nerve conduction velocity, Scaphocephaly, Primary adrenal insufficienc... OMIM:261515
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome
Inability to walk, Contractures of the large joints, Steppage gait, Kyphoscoliosis ORPHA:324410
Immunodeficiency 70
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:618969
Glycogen Storage Disease Xv
Scapular winging, Type 1 muscle fiber predominance OMIM:613507
Proteasome-Associated Autoinflammatory Syndrome 2
Increased circulating IgG level, Abnormal circulating IgM level, Increased circulating IgA level OMIM:618048
Facial Dysmorphism, Immunodeficiency, Livedo, And Short Stature
Decreased circulating total IgM, Short stature OMIM:615139
Neurodevelopmental Disorder With Or Without Variable Movement Or Behavioral Abnormalities
Resting tremor, Delayed CNS myelination, Ataxia, Parkinsonism, Chorea, Cogwheel rigidity, Bradyki... OMIM:619725
Sengers Syndrome
Growth delay, Myopathy OMIM:212350
Agammaglobulinemia 2, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgA level OMIM:613500
Combined Oxidative Phosphorylation Deficiency 19
Increased variability in muscle fiber diameter, Poor head control, Failure to thrive OMIM:615595
Gaucher Disease, Perinatal Lethal
Arthrogryposis multiplex congenita, Opisthotonus OMIM:608013
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Primary microcephaly OMIM:617523
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Dyssynergia, Impaired proprioception, Dysmetria, Gait ataxia, Chor... ORPHA:101
Agammaglobulinemia 6, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level, Decreased c... OMIM:612692
Carnitine Palmitoyl Transferase Ii Deficiency, Myopathic Form
Muscle fiber atrophy, Rhabdomyolysis, Increased muscle lipid content, Renal tubular epithelial ne... ORPHA:228302
Waardenburg Syndrome, Type 2E
Aplasia of the semicircular canal, Sensorineural hearing impairment, Hypoplasia of the semicircul... OMIM:611584
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
De Barsy Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of... ORPHA:2962
Ceroid Lipofuscinosis, Neuronal, 2
Ataxia, Myoclonus OMIM:204500
Infantile Spasms Syndrome
Myoclonus ORPHA:3451
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Congenital hip dislocation, Congenital diaphragmatic ... ORPHA:96170
Ceroid Lipofuscinosis, Neuronal, 6B (Kufs Type)
Ataxia, Myoclonus, Abnormality of extrapyramidal motor function OMIM:204300
Pparg-Related Familial Partial Lipodystrophy
Skeletal muscle hypertrophy, Myopathy, Calf muscle pseudohypertrophy, Abnormality of skeletal mus... ORPHA:79083
Hypothyroidism, Central, With Testicular Enlargement
Inappropriately normal thyroid-stimulating hormone level, Reduced circulating prolactin concentra... OMIM:300888
Osteogenesis Imperfecta, Type I
Otosclerosis, Hearing impairment OMIM:166200
Combined Immunodeficiency Due To Dock8 Deficiency
T lymphocytopenia, Increased circulating IgE level, B lymphocytopenia ORPHA:217390
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Clumsiness, Gait ataxia... ORPHA:157941
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Sensorineural hearing impairment, Brachycephaly, Abnormal auditory evoked potentials, Macrocephaly OMIM:109120
46,Xx Sex Reversal 4
Fused labia majora, Penoscrotal hypospadias, Ovotestis, Gonadal dysgenesis, Retractile testis, Am... OMIM:617480
Prolactin Deficiency With Obesity And Enlarged Testes
Macroorchidism, Obesity, Reduced circulating prolactin concentration OMIM:264120
Ring Chromosome 10 Syndrome
Cachexia, Short neck ORPHA:1438
Machado-Joseph Disease
Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigidity, Babinski sign, Limb ataxia, Bradyk... OMIM:109150
Convulsive Disorder, Familial, With Prenatal Or Early Onset
Myoclonus OMIM:217200
Schindler Disease, Type I
Spasticity, Optic atrophy, Generalized amyotrophy, Myoclonus OMIM:609241
Igg4-Related Aortitis
Low back pain, Increased circulating IgG4 level, Increased circulating IgE level, Increased circu... ORPHA:449400
Warsaw Breakage Syndrome
Microcephaly, Hypoplasia of the cochlea, Optic disc coloboma, Cupped ear, Hearing impairment OMIM:613398
Immunodeficiency 10
Myopathy OMIM:612783
Bruck Syndrome
Recurrent fractures, Joint stiffness, Kyphosis, Osteoporosis, Respiratory insufficiency, Platyspo... ORPHA:2771
Developmental And Epileptic Encephalopathy 54
Delayed myelination, Myoclonus OMIM:617391
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Failure to thrive in infancy, Ankle flexion contracture, Spastic tetrapar... ORPHA:284417
Adrenoleukodystrophy
Bulbar palsy, Incoordination, Paraparesis, Spastic paraplegia, Slurred speech, Limb ataxia, Trunc... OMIM:300100
Kniest Dysplasia
Respiratory distress, Hip contracture, Enlarged joints, Short neck, Delayed epiphyseal ossificati... OMIM:156550
Pyridoxamine 5-Prime-Phosphate Oxidase Deficiency
Unsteady gait, Hypertonia, Myoclonus OMIM:610090
Xanthinuria, Type I
Myopathy OMIM:278300
Poliomyelitis
Skeletal muscle atrophy, Bulbar palsy, Lower limb muscle weakness, Hypoplasia of the musculature,... ORPHA:2912
Persistent Polyclonal B-Cell Lymphocytosis
Decreased circulating total IgM OMIM:606445
Persistent Müllerian Duct Syndrome
Cryptorchidism, Male pseudohermaphroditism ORPHA:2856
Pontocerebellar Hypoplasia, Type 1D
Multiple joint contractures, Flexion contracture, Generalized amyotrophy, Tongue fasciculations, ... OMIM:618065
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Hypertonia,... ORPHA:99027
Gerstmann-Straussler-Scheinker Syndrome
Limb myoclonus, Lower limb muscle weakness, Abnormality of extrapyramidal motor function, Gait at... ORPHA:356
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Exaggerated startle response, Spinal rigidity, Flexion contracture, Resp... OMIM:253800
Boutonneuse Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:83313
Beta-Ketothiolase Deficiency
Weight loss, Tachypnea, Ataxia, Cough ORPHA:134
Huntington Disease-Like 2
Rigidity, Chorea, Weight loss, Bradykinesia, Action tremor OMIM:606438
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Restless Legs Syndrome, Susceptibility To, 1
Myoclonus OMIM:102300
Malignant Hyperthermia Of Anesthesia
Exercise-induced rhabdomyolysis, Acute rhabdomyolysis, Hypercapnia, Tachypnea, Abnormality of mas... ORPHA:423
Dystonia 34, Myoclonic
Torticollis, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor OMIM:619724
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Small for gestational age, Kyphosis, Hypertonia, Scoliosis, Arthrogryposis multip... OMIM:615834
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Tremor, EMG: myopathic abnormalities, Short stature ORPHA:457365
Zika Virus Disease
Intrauterine growth retardation, Increased circulating IgM level ORPHA:448237
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Eryth... ORPHA:289390
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... ORPHA:254892
Familial Isolated Hypoparathyroidism
Myopathy ORPHA:2238
Hypergonadotropic Hypogonadism-Cataract Syndrome
Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Absence of secondary se... ORPHA:2410
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Intellectual Disability-Coarse Face-Macrocephaly-Cerebellar Hypotrophy Syndrome
Neuropathic spinal arthropathy, Broad-based gait, Ataxia, Kyphoscoliosis, Patent ductus arteriosu... ORPHA:397709
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Impaired vibration sensation in the lower limbs, Impaired p... ORPHA:88628
Encephalopathy Due To Prosaposin Deficiency
Myoclonus, Dystonia ORPHA:139406
Scholte Syndrome
Kyphoscoliosis, Patellar hypoplasia OMIM:300977
Cystinosis
Short stature, Abnormal pyramidal sign, Myopathy, Gait disturbance, Delayed puberty ORPHA:213
Nystagmus, Myoclonic
Myoclonus OMIM:310800
Greig Cephalopolysyndactyly Syndrome
Camptodactyly of toe, Joint contracture of the hand, Abnormal muscle fiber morphology OMIM:175700
Laryngotracheoesophageal Cleft Type 4
Cachexia, Abnormal form of the vertebral bodies ORPHA:93941
Succinic Semialdehyde Dehydrogenase Deficiency
Delayed CNS myelination, Hyperkinetic movements, Ataxia OMIM:271980
Caribbean Parkinsonism
Orthostatic hypotension, Weakness due to upper motor neuron dysfunction, Parkinsonism, Rigidity, ... ORPHA:97355
X-Linked Dominant Chondrodysplasia Punctata
Neuropathic spinal arthropathy, Abnormally ossified vertebrae, Kyphoscoliosis, Flexion contractur... ORPHA:35173
Neurodevelopmental Disorder With Dysmorphic Facies And Ischiopubic Hypoplasia
Postnatal growth retardation, Decreased circulating total IgM, Decreased circulating IgG level, S... OMIM:620210
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Delayed CNS myelination, Parkinsonism, Tremor, Head titubation, Rigidity, Truncal ataxia, Gait at... OMIM:618877
Pyomyositis
Recurrent cutaneous abscess formation, Myositis ORPHA:764
Winchester Syndrome
Kyphosis OMIM:277950
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Small cervical vertebral bodies, Abnormal acetabulum morphology, Apnea, Tachypnea, Early ossifica... ORPHA:397715
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Rigidity, Kyphosis, Babinski sign,... ORPHA:97349
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Paraparesis, Neurofibroma, Plexiform neurofibroma, Low... OMIM:162210
Continuous Spikes And Waves During Sleep
Speech apraxia, Clumsiness, Hyperkinetic movements, Dystonia ORPHA:725
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of
Ataxia, Flexion contracture, Abnormal pyramidal sign, Myopathy, Weakness of facial musculature OMIM:201470
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity
Hemolytic anemia, Autoimmune hemolytic anemia, Decreased proportion of CD4+CD25+ regulatory T cel... OMIM:606367
Keppen-Lubinsky Syndrome
Hypertonia, Flexion contracture, Spastic tetraparesis, Opisthotonus OMIM:614098
Musculocontractural Ehlers-Danlos Syndrome
Decreased muscle mass, Recurrent joint dislocation, Cervical kyphosis, Kyphoscoliosis, Craniosyno... ORPHA:2953
Alexander Disease Type Ii
Ataxia, Rigidity, Palatal tremor, Babinski sign, Spasticity, Spastic paraparesis, Limb muscle wea... ORPHA:363722
Polymyositis
Abnormal muscle fiber morphology, Respiratory insufficiency, Weight loss, Arthritis, Gait disturb... ORPHA:732
Congenital Tricuspid Valve Dysplasia
Respiratory failure requiring assisted ventilation, Small for gestational age, Tachypnea, Hypoxem... ORPHA:555874
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome
Osteopenia, Abnormality of the knee, Thoracolumbar scoliosis, Kyphoscoliosis, Hyperlordosis, Shor... ORPHA:457395
Developmental And Epileptic Encephalopathy 27
Chorea, Myoclonus, Spasticity, Dystonia OMIM:616139
Mcleod Syndrome
Chorea, Rhabdomyolysis, Myopathy, Dystonia, Motor axonal neuropathy OMIM:300842
Adrenomyodystrophy
Myopathy ORPHA:977
Mitochondrial Complex I Deficiency, Nuclear Type 19
Rigidity, Delayed myelination, Optic atrophy, Athetosis, Myoclonus OMIM:618241
Pulmonary Alveolar Microlithiasis
Increased pulmonary vascular resistance, Nonproductive cough, Dyspnea, Tachypnea, Pneumothorax, B... ORPHA:60025
Pituitary Hormone Deficiency, Combined, 2
Decreased thyroid-stimulating hormone level, Reduced circulating prolactin concentration, Abnorma... OMIM:262600
Ataxia-Telangiectasia-Like Disorder
Short stature, Ataxia, Chorea, Dysmetria, Gait ataxia, Dysdiadochokinesis, Myoclonus, Oculomotor ... ORPHA:251347
Ovarian Dysgenesis 4
Decreased serum estradiol, Elevated circulating follicle stimulating hormone level, Primary ameno... OMIM:616185
Immunodeficiency 109 With Lymphoproliferation
Decreased specific pneumococcal antibody level, Decreased circulating IgG level, Complete or near... OMIM:620282
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Carpenter Syndrome
Craniosynostosis, Kyphoscoliosis, Patent ductus arteriosus, Obesity, Genu valgum ORPHA:65759
Walker-Warburg Syndrome
Skeletal muscle atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystroph... ORPHA:899
Acrootoocular Syndrome
Small hypothenar eminence, Small for gestational age, Kyphoscoliosis, Delayed skeletal maturation... ORPHA:2980
Carcinoid Syndrome
Pulmonary carcinoid tumor, Myopathy, Small intestine carcinoid, Paraganglioma, Intestinal carcino... ORPHA:100093
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Speech apraxia, Waddling gait, Short stature, Ataxia, Tremor, Inability to walk, Chorea, Athetosi... OMIM:615356
Microcephaly, Amish Type
Flexion contracture, Optic atrophy, Myoclonus, Failure to thrive, Limb hypertonia OMIM:607196
Agammaglobulinemia 8B, Autosomal Recessive
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgE, Partial absence o... OMIM:619824
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Increased endomysial connective tissue, Flexion contracture, Muscular dystrophy OMIM:613154
Ethylene Glycol Poisoning
Ataxia, Facial palsy, Tachypnea, Episodic respiratory distress, Renal tubular epithelial necrosis... ORPHA:31826
Premature Ovarian Failure 10
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:612885
3-Hydroxy-3-Methylglutaric Aciduria
Apnea, Ataxia, Tachypnea, Weight loss, Lethargy ORPHA:20
Myotonic Dystrophy 2
Neck flexor weakness, Proximal muscle weakness, Decreased circulating total IgM, Generalized amyo... OMIM:602668
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Abdominal wall muscle weakness, Cachexia, Myopathy, Scoliosis, Muscle we... ORPHA:109
Glycogen Storage Disease Vii
Increased muscle glycogen content, Increased variability in muscle fiber diameter OMIM:232800
Hypogonadotropic Hypogonadism 23 With Or Without Anosmia
Hypogonadotropic hypogonadism, Decreased circulating dihydrotestosterone concentration, Secondary... OMIM:228300
Multiple Sulfatase Deficiency
CNS demyelination, Spasticity, Ataxia, Peripheral demyelination OMIM:272200
Premature Ovarian Failure 17
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Decreased inhibi... OMIM:619146
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Joint laxity, Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Large for gestational age, ... ORPHA:457359
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... OMIM:614069
Intellectual Developmental Disorder, Autosomal Recessive 39
Kyphoscoliosis OMIM:615541
Immunodeficiency 33
Decreased circulating total IgM, Increased circulating IgA level OMIM:300636
Mepan Syndrome
Axial dystonia, Dystonia, Ataxia, Hemidystonia, Chorea, Optic atrophy, Myoclonus, Limb dystonia, ... ORPHA:508093
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia OMIM:141300
Immunodeficiency 23
Increased circulating IgG level, Increased circulating IgE level, Increased circulating IgM level... OMIM:615816
Spinocerebellar Ataxia 50
Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Action tremor OMIM:620158
Wilson Disease
Back pain, Bone pain, Increased body weight, Weight loss, Proximal muscle weakness in lower limbs... ORPHA:905
Biotinidase Deficiency
Lethargy, Tachypnea, Apnea, Ataxia OMIM:253260
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Joint stiffness, Kyphosis, Abnormal form of the... ORPHA:2461
Deafness, Neural, With Atypical Atopic Dermatitis
Increased circulating IgE level OMIM:221700
Severe Intellectual Disability-Progressive Postnatal Microcephaly-Midline Stereotypic Hand Movements Syndrome
Hyperkinetic movements ORPHA:397933
Microphthalmia, Syndromic 13
Kyphoscoliosis OMIM:300915
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Abnormal muscle fiber morphology, Hyperlordosis, Ophthalmo... ORPHA:3068
46,Xy Sex Reversal 10
Bifid scrotum, Small scrotum, Hypospadias, Ovotestis, Testicular dysgenesis, Perineal hypospadias... OMIM:616425
Hypogonadotropic Hypogonadism-Retinitis Pigmentosa Syndrome
Hypothalamic gonadotropin-releasing hormone deficiency, Hypogonadotropic hypogonadism, Reduced ci... ORPHA:2235
Hypogonadotropic Hypogonadism 24 With Or Without Anosmia
Elevated circulating luteinizing hormone level, Primary amenorrhea, Decreased circulating follicl... OMIM:229070
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Obesity, Scoliosis ORPHA:276630
Adult Idiopathic Neutropenia
Increased circulating IgM level ORPHA:2688
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hyperextensibility of the finger joints, Decreased muscle mass, Broad-based gait, Recurrent fract... OMIM:309583
Neurodevelopmental Disorder With Epilepsy And Brain Atrophy
Spastic tetraplegia, Ataxia, Myoclonus, Erratic myoclonus OMIM:619971
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal muscle weakness, ... OMIM:606002
Wieacker-Wolff Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Congenital foot contractures, Distal amyotroph... OMIM:314580
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... OMIM:234200
Atrial Septal Defect, Ostium Primum Type
Dyspnea, Tachypnea, Abnormal respiratory system physiology, Exertional dyspnea, Left ventricular ... ORPHA:99106
Aredyld Syndrome
Cachexia, Scoliosis ORPHA:1133
46,Xy Sex Reversal 11
Abnormal internal genitalia, Elevated circulating luteinizing hormone level, Absence of pubertal ... OMIM:273250
Nmda Receptor Encephalitis
Oculogyric crisis, Involuntary movements, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Myoclo... ORPHA:217253
Parasomnia, Sleep Bruxism Type
Myoclonus OMIM:606840
Machado-Joseph Disease Type 3
Distal lower limb amyotrophy, Skeletal muscle atrophy, Facial-lingual fasciculations, Babinski si... ORPHA:276244
Hypotonia-Cystinuria Syndrome
Failure to thrive, Ragged-red muscle fibers, Facial palsy, Muscle weakness OMIM:606407
Anaplastic Thyroid Carcinoma
Respiratory distress, Dyspnea, Upper airway obstruction, Abnormal skeletal muscle morphology, Str... ORPHA:142
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2
CNS demyelination, Babinski sign, Myoclonus, Apraxia OMIM:618193
Lymphatic Malformation 10
Hydrocele testis OMIM:619369
Spondylodysplastic Ehlers-Danlos Syndrome
Osteopenia, Joint dislocation, Multiple joint contractures, Generalized joint laxity, Flexion con... ORPHA:536471
East Syndrome
Peripheral axonal neuropathy, Ataxia, Peripheral hypomyelination, Lower limb muscle weakness, Act... ORPHA:199343
Mucopolysaccharidosis Type 2
Papilledema, Otosclerosis, Decreased nerve conduction velocity, Sensorineural hearing impairment,... ORPHA:580
Autosomal Recessive Spastic Paraplegia Type 11
Ataxia, Parkinsonism, Overweight, Inability to walk, Paraparesis, Generalized limb muscle atrophy... ORPHA:2822
Immunodeficiency 9
Myopathy, Difficulty walking OMIM:612782
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Opti... ORPHA:506
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis, Pulsatile tinnitus OMIM:601650
Congenital Disorder Of Glycosylation, Type Iig
Osteopenia, Thoracic scoliosis, Failure to thrive in infancy, Kyphoscoliosis, Short neck, Vertebr... OMIM:611209
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia
Loss of ambulation, Tongue fasciculations, Fasciculations OMIM:613435
Spinocerebellar Ataxia 34
Peripheral axonal neuropathy, Ataxia, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Dysdiado... OMIM:133190
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Kyphoscoliosis, Limitation of joint mobility, Osteoporosis, Scoliosis, Biconcave vertebral bodies... OMIM:236200
Palmoplantar Keratoderma, Epidermolytic, 1
Increased circulating IgE level OMIM:144200
Whim Syndrome 1
Decreased circulating IgG level, Decreased circulating antibody level OMIM:193670
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Flat occiput, Decreased serum estradiol, Aplasia of the ovary, Aplasia/hypoplasia of the uterus, ... ORPHA:2232
Combined Oxidative Phosphorylation Deficiency 51
Small for gestational age, Optic atrophy, Myoclonus, Rigidity OMIM:619057
Keppen-Lubinsky Syndrome
Hypertonia, Flexion contracture, Spastic tetraparesis, Opisthotonus ORPHA:435628
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Hip dislocation, Joint contracture, Failure... OMIM:618005
Larsen-Like Syndrome
Joint laxity, Delayed skeletal maturation, Joint dislocation, Kyphoscoliosis OMIM:608545
Spondylometaphyseal Dysplasia, Kozlowski Type
Increased intervertebral space, Delayed epiphyseal ossification, Thoracic kyphosis, Genu varum, W... ORPHA:93314
Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal
Delayed CNS myelination, Clonus, Rigidity, Babinski sign, Optic atrophy, Hypertonia, Myoclonic sp... OMIM:614498
Immunodeficiency 49
Impaired lymphocyte transformation with phytohemagglutinin, Eosinophilia, T lymphocytopenia, Abno... OMIM:617237
Pyruvate Carboxylase Deficiency
Ataxia, Tremor, Tachypnea, Tip-toe gait, Dystonia, Failure to thrive, Abnormal pattern of respira... ORPHA:3008
Congenital Myopathy 13
Skeletal muscle atrophy, Hypercapnia, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexi... OMIM:255995
Epilepsy, Idiopathic Generalized, Susceptibility To, 7
Myoclonus OMIM:604827
Ceroid Lipofuscinosis, Neuronal, 3
Loss of ambulation, Abnormality of extrapyramidal motor function, Parkinsonism, Myoclonus OMIM:204200
Norrie Disease
Failure to thrive, Diabetes mellitus, Cachexia, Microcephaly, Cryptorchidism, Sensorineural heari... ORPHA:649
Caffey Disease
Increased circulating antibody level, Scoliosis ORPHA:1310
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Obesity, Scoliosis, Scheuermann-like vertebral changes, Cervical spinal canal stenosis OMIM:301900
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Paresthesia, Muscle weakness, Cachexia OMIM:175500
Coronary Arterial Fistula
Orthopnea, Patent ductus arteriosus, Tachypnea, Pulmonary arterial hypertension, Exertional dyspnea ORPHA:2041
Metachromatic Leukodystrophy
Ataxia, Decreased nerve conduction velocity, Abnormal gallbladder morphology, Neoplasm of the gal... ORPHA:512
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Patent du... ORPHA:354
Mucopolysaccharidosis Type 2, Severe Form
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Conduct... ORPHA:217085
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Fused labia majora, Decreased circulating cortisol level, Adrenal hyperplasia, Decreased circulat... ORPHA:95699
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Lysyl Hydroxylase 1 Deficiency
Osteopenia, Joint dislocation, Decreased muscle mass, Thoracic scoliosis, Distal joint laxity, Ge... ORPHA:1900
Car T Cell Therapy-Associated Cytokine Release Syndrome
Hypoxemia, Pleural effusion, Tachypnea, Respiratory failure ORPHA:542323
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Myopathy, Limb muscle weakness OMIM:112250
Ige Responsiveness, Atopic
Increased circulating IgE level OMIM:147050
Spondyloepiphyseal Dysplasia, Sensorineural Hearing Loss, Impaired Intellectual Development, And Leber Congenital Amaurosis
Optic disc pallor, Sensorineural hearing impairment, Ataxia, Abnormal auditory evoked potentials OMIM:619260
Orofaciodigital Syndrome Type 6
Apnea, Episodic tachypnea, Ataxia, Tremor, Gait disturbance, Failure to thrive ORPHA:2754
Immunodeficiency 35
Increased circulating IgE level OMIM:611521
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Ophthalmoplegia, Distal arthrogryposis, Firm muscles, Hypertonia... OMIM:108145
Joubert Syndrome 2
Central apnea, Ataxia, Episodic tachypnea, Metopic synostosis, Failure to thrive, Neonatal breath... OMIM:608091
Rajab Interstitial Lung Disease With Brain Calcifications 1
Osteopenia, Joint laxity, Small for gestational age, Delayed skeletal maturation, Tachypnea, Rick... OMIM:613658
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity
Increased circulating IgG level OMIM:618495
11Q22.2Q22.3 Microdeletion Syndrome
Poor head control, Abnormal social behavior, Obesity ORPHA:444002
Intellectual Developmental Disorder, X-Linked 12
Increased body mass index, Small for gestational age, Tremor, Truncal obesity, Hyperkinetic movem... OMIM:300957
Holocarboxylase Synthetase Deficiency
Lethargy, Tachypnea, Hyperventilation OMIM:253270
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation
Hypertonia, Small for gestational age, Myoclonus, Abnormal myelination ORPHA:289266
Spinocerebellar Ataxia Type 13
Torticollis, Short stature, Limb ataxia, Titubation, Clumsiness, Gait ataxia, Bradykinesia, Myocl... ORPHA:98768
Carnitine Deficiency, Systemic Primary
Myopathy, Reduced muscle carnitine level OMIM:212140
Cocaine Intoxication
Respiratory distress, Tremor, Wheezing, Tachypnea, Pneumothorax, Rhabdomyolysis, Cough, Hypervent... ORPHA:90068
19P13.3 Microduplication Syndrome
Kyphoscoliosis, Osteoporosis, Hip dislocation, Pulmonary arterial hypertension, Hip subluxation ORPHA:447980
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Myopathy, Epilepsy, And Progressive Cerebral Atrophy
Delayed CNS myelination, Type 1 muscle fiber atrophy, Type 2 muscle fiber predominance, Congenita... OMIM:619036
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Tremor, Generalized muscle weakness, Type 1 fibers relatively smaller than ... OMIM:619424
Succinyl-Coa:3-Oxoacid-Coa Transferase Deficiency
Tachypnea OMIM:245050
Familial Cervical Artery Dissection
Facial palsy, Paralysis ORPHA:36382
Ovarian Dysgenesis 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Primary amenorrh... OMIM:619665
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Immunodeficiency By Defective Expression Of Mhc Class Ii
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Abnormal CD4:CD8 ratio, N... ORPHA:572
Rheumatoid Arthritis
Joint stiffness, Weight loss, Joint swelling, Digital flexor tenosynovitis, Polyarticular arthrit... OMIM:180300
Beckwith-Wiedemann Syndrome
Otosclerosis, Adrenocortical cytomegaly, Large for gestational age, Cryptorchidism, Adrenocortica... ORPHA:116
46,Xy Partial Gonadal Dysgenesis
Hypoplasia of the vagina, Hypoplasia of penis, Vanishing testis, Decreased serum estradiol, Micro... ORPHA:251510
46,Xy Sex Reversal 1
Abnormality of male external genitalia, Hypergonadotropic hypogonadism, Elevated circulating lute... OMIM:400044
Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome
Decreased distal sensory nerve action potential, Ataxia, Vestibular areflexia, Limb ataxia, Gait ... OMIM:614575
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Gait disturbance, Scoliosis ORPHA:2181
Distal Renal Tubular Acidosis
Respiratory insufficiency due to muscle weakness, Sensorineural hearing impairment, Failure to th... ORPHA:18
Kagami-Ogata Syndrome
Diastasis recti, Kyphoscoliosis, Patent ductus arteriosus, Flexion contracture, Pulmonary arteria... OMIM:608149
Glycogen Storage Disease Xii
Myopathy, Increased variability in muscle fiber diameter, Muscle fiber splitting OMIM:611881
Leydig Cell Hypoplasia
Hypoplasia of the Leydig cells, Male hypogonadism, Micropenis, Abnormal internal genitalia, Hypos... ORPHA:755
Glycerol Kinase Deficiency
Small for gestational age, Osteoporosis, Myopathy, Muscular dystrophy, Lethargy, Pathologic fracture OMIM:307030
Autoinflammation With Arthritis And Dyskeratosis
Growth delay, Increased circulating IgG level, Increased circulating IgA level OMIM:617388
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Distal muscle weakness, Tremor, Inability to walk, Kyp... OMIM:617988
Lymphoproliferative Syndrome 1
Pancytopenia, Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Thrombocytopenia, Splenom... OMIM:613011
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Distal muscle weakness, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus,... ORPHA:364028
Kyphoscoliotic Ehlers-Danlos Syndrome
Osteopenia, Skeletal muscle atrophy, Congenital kyphoscoliosis, Congenital hip dislocation, Kypho... ORPHA:536545
Autosomal Recessive Ataxia Due To Ubiquinone Deficiency
Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Myoclonus, Dystonia ORPHA:139485
Joubert Syndrome 1
Central apnea, Ataxia, Episodic tachypnea, Macroglossia, Neonatal breathing dysregulation OMIM:213300
Leydig Cell Hypoplasia, Type I
Increased circulating gonadotropin level, Hypergonadotropic hypogonadism OMIM:238320
Simple Cryoglobulinemia
Monoclonal elevation of circulating IgA, Monoclonal immunoglobulin M proteinemia, Paraproteinemia... ORPHA:91139
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Obesity, Tetraplegia, Weight... ORPHA:79102
X-Linked Adrenoleukodystrophy
Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clumsiness, Hemiparesis,... ORPHA:43
Mucopolysaccharidosis-Plus Syndrome
Short neck, Flexion contracture, Macroglossia, Increased circulating IgM level, Bone marrow hypoc... OMIM:617303
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Myopathy ORPHA:257
Ovarian Dysgenesis 7
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:618117
Ovarian Dysgenesis 8
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasti... OMIM:618187
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia OMIM:619422
Mucopolysaccharidosis, Type Vi
Lumbar hyperlordosis, Pneumonia, Ovoid vertebral bodies, Kyphoscoliosis, Anterior wedging of L2, ... OMIM:253200
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Flexion contracture, Axial muscle weaknes... ORPHA:171430
Burkitt Lymphoma
Decreased proportion of CD4-positive helper T cells, Abnormality of the spleen, Abnormality of th... ORPHA:543
Respiratory Bronchiolitis-Interstitial Lung Disease Syndrome
Nonproductive cough, Dyspnea, Chronic pulmonary obstruction, Wheezing, Bronchiectasis, Inspirator... ORPHA:79127
Alpha-N-Acetylgalactosaminidase Deficiency Type 1
Hemiplegia/hemiparesis, Abnormal pyramidal sign, Optic atrophy, Abnormality of extrapyramidal mot... ORPHA:79279
Immunodeficiency 14B, Autosomal Recessive
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619281
Peho Syndrome
Optic atrophy, Myoclonus, Peripheral dysmyelination OMIM:260565
Ovarian Dysgenesis 10
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:619834
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Distal muscle weakness, Facial palsy, Short neck, Kyphosis, Achilles tendon cont... OMIM:301041
Pseudohypoaldosteronism Type 2
Muscle weakness, Periodic paralysis ORPHA:757
Marfan Syndrome
Osteopenia, Skeletal muscle atrophy, Arthralgia/arthritis, Spontaneous pneumothorax, Protrusio ac... ORPHA:558
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Waddling gait, Skeletal muscle atrophy, Osteopenia, Kyphoscoliosis, Patent ductus arteriosus, Atl... OMIM:614557
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Facial palsy, Ophthalmoplegia, Increased circulating IgG leve... ORPHA:297
Premature Ovarian Failure 7
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Secondary amenor... OMIM:612964
Hypogonadism-Cataract Syndrome
Male hypogonadism, Hypogonadism, Elevated circulating follicle stimulating hormone level, Inferti... OMIM:240950
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Peripheral axonal neuropathy, Distal sensory impairmen... OMIM:256840
Pleural Mesothelioma
Respiratory distress, Dyspnea, Abnormal respiratory system physiology, Weight loss, Cough, Pleura... ORPHA:50251
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency
Abnormal immunoglobulin level, Increased circulating IgG level, Decreased lymphocyte proliferatio... ORPHA:276
Sjögren-Larsson Syndrome
Kyphosis, Abnormal pyramidal sign, Spastic diplegia, Scoliosis, Spasticity ORPHA:816
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Bulbar palsy, Ataxia, Facial palsy, Dysesthesia, Ophth... ORPHA:79138
Parkinsonian-Pyramidal Syndrome
Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Bradykinesia, Hypomimic face, Myo... ORPHA:171695
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency
Decreased circulating IgG level, Abnormal B cell count, Abnormal T cell count, Autoimmune hemolyt... ORPHA:331206
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Flexion contracture, Abnormal muscle glycogen content, Myopathy ORPHA:367
Cronkhite-Canada Syndrome
Cachexia ORPHA:2930
Spondylometaphyseal Dysplasia, Schmidt Type
Abnormality of the knee, Kyphoscoliosis, Genu valgum, Platyspondyly, Abnormality of the vertebral... ORPHA:93316
Gorham-Stout Disease
Abnormal calvaria morphology, Abnormality of the internal auditory canal, Hearing impairment, Abn... ORPHA:73
Bone Dysplasia, Lethal Holmgren Type
Joint dislocation, Short neck, Patent ductus arteriosus, Abnormality of the elbow, Respiratory in... ORPHA:1842
Stickler Syndrome
Joint dislocation, Skeletal muscle atrophy, Protrusio acetabuli, Cachexia, Kyphosis, Osteoarthrit... ORPHA:828
Microcephaly-Capillary Malformation Syndrome
Small for gestational age, Spastic tetraparesis, Delayed myelination, Optic atrophy, CNS hypomyel... OMIM:614261
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, Cold paresis, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Insulin-Like Growth Factor I Deficiency
Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone concentration, ... OMIM:608747
Ovarian Dysgenesis 1
Gonadal dysgenesis, Increased circulating gonadotropin level, Primary amenorrhea OMIM:233300
Spermatogenic Failure 75
Male infertility, Non-obstructive azoospermia, Elevated circulating follicle stimulating hormone ... OMIM:619949
Insulin Autoimmune Syndrome
Increased circulating antibody level ORPHA:411593
Premature Ovarian Failure 1
Increased circulating gonadotropin level, Premature ovarian insufficiency, Irregular menstruation OMIM:311360
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture OMIM:618658
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Generalized muscle weakness, Thyroiditis, Tubulointerstitial nephritis, Abnormality of ... ORPHA:79078
Agnathia-Holoprosencephaly-Situs Inversus Syndrome
Low-set, posteriorly rotated ears, Hypoplasia of penis, Synotia, Narrow internal auditory canal, ... ORPHA:990
Neuropathy, Hereditary Sensory, Type Ie
Decreased number of peripheral myelinated nerve fibers, Ataxia OMIM:614116
X-Linked Intellectual Disability-Short Stature-Overweight Syndrome
Short stature, Tremor, Hyperkinetic movements, Upper limb spasticity, Gait disturbance ORPHA:457240
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Myeloma, Multiple
Paraproteinemia OMIM:254500
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome
Tachypnea, Progressive cerebellar ataxia, Lethargy, Failure to thrive, Spastic gait ORPHA:415
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Ataxia, Flexion contracture, Loss of ability to walk in first decade, Hy... OMIM:300243
Mccune-Albright Syndrome
Craniofacial hyperostosis, Hyperparathyroidism, Hyperthyroidism, Elevated circulating growth horm... OMIM:174800
Immunodeficiency, Common Variable, 2
Partial absence of specific antibody response to unconjugated pneumococcus vaccine, Decreased cir... OMIM:240500
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Lumbar hyperlordosis, Short neck, Flexion contracture, Lumbar kyphosis, Macroglossia, Increased c... ORPHA:505248
Isolated Follicle Stimulating Hormone Deficiency
Decreased serum testosterone concentration, Hyperplasia of the Leydig cells, Decreased female lib... ORPHA:52901
Tsh-Secreting Pituitary Adenoma
Elevated circulating thyroid-stimulating hormone concentration, Hyperhidrosis, Male hypogonadism,... ORPHA:91347
Hydranencephaly
Spastic diplegia, Opisthotonus ORPHA:2177
Fructose-1,6-Bisphosphatase Deficiency
Respiratory distress, Intermittent hyperventilation, Episodic tachypnea, Dyspnea, Apneic episodes... ORPHA:348
Pituitary Apoplexy
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:95613
Hypogonadotropic Hypogonadism 1 With Or Without Anosmia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Small scrotum, Ataxia,... OMIM:308700
Loeys-Dietz Syndrome 5
Scapular winging, Decreased muscle mass, Failure to thrive in infancy, Kyphoscoliosis, Osteoarthr... OMIM:615582
Precocious Puberty, Central, 1
Elevated circulating luteinizing hormone level, Hypothyroidism, Elevated circulating follicle sti... OMIM:176400
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies ORPHA:1354
Xp21 Deletion Syndrome
Decreased muscle mass, Growth delay, Myopathy, Calf muscle hypertrophy, Spasticity ORPHA:261476
Premature Ovarian Failure 8
Streak ovary, Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Pr... OMIM:615723
Baralle-Macken Syndrome
Inability to walk, Kyphosis, Spasticity, Obesity OMIM:619255
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency
Ataxia, Head titubation, Truncal ataxia, Dysmetria, Myoclonus, Dystonia, Failure to thrive OMIM:250620
Immunodeficiency 11B With Atopic Dermatitis
Decreased circulating total IgM, Increased circulating IgE level OMIM:617638
Androgen Insensitivity Syndrome
Elevated circulating luteinizing hormone level, Primary amenorrhea, Blind vagina, Elevated circul... OMIM:300068
Resistance To Thyrotropin-Releasing Hormone Syndrome
Reduced circulating prolactin concentration, Overweight, Elevated circulating thyroid-stimulating... ORPHA:99832
Foodborne Botulism
Cerebral palsy, Paralysis, Respiratory insufficiency due to muscle weakness, Diaphragmatic paraly... ORPHA:228371
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder
Joint laxity, Hip contracture, Ataxia, Kyphoscoliosis, Inability to walk, Knee flexion contractur... ORPHA:488642
Progressive Myoclonic Epilepsy Type 3
Progressive truncal ataxia, Progressive cerebellar ataxia, Chin myoclonus, Myoclonus, Limb myoclonus ORPHA:263516
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Clonus, Hypertonia, Leukodystrophy, Decreased body weight, Intention tremor, Ataxia, Overweight, ... OMIM:619475
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Abetalipoproteinemia
Osteopenia, Broad-based gait, Failure to thrive, Ataxia, Kyphoscoliosis, Dysmetria, Gait ataxia, ... ORPHA:14
Episodic Ataxia, Type 5
Episodic ataxia, Ataxia, Myoclonus, Truncal ataxia OMIM:613855
Myoclonic Epilepsy Of Unverricht And Lundborg
Ataxia, Myoclonus OMIM:254800
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Tremor, Kyphosis, Gait ataxia, Macroglossia, Abdominal obesity OMIM:300354
Mucopolysaccharidosis Type 2, Attenuated Form
Papilledema, Otosclerosis, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Conduct... ORPHA:217093
Schaaf-Yang Syndrome
Failure to thrive in infancy, Kyphosis, Inability to walk, Flexion contracture, Obesity, Scoliosi... OMIM:615547
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Decreased circulating total IgM, Scoliosis, Decreased circulatin... OMIM:619752
Glioblastoma
Muscle weakness, Paralysis ORPHA:360
Pgm3-Cdg
Hemolytic anemia, Abnormal proportion of CD8-positive T cells, Eosinophilia, Abnormal CD4:CD8 rat... ORPHA:443811
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus, Leukodystrophy OMIM:618225
Danon Disease
Myocardial necrosis, Lower limb amyotrophy, EMG: myopathic abnormalities, Generalized amyotrophy,... OMIM:300257
Familial Dilated Cardiomyopathy With Conduction Defect Due To Lmna Mutation
Muscular dystrophy, Abnormal lymphocyte physiology ORPHA:300751
Ck Syndrome
Kyphosis, Slender build, Scoliosis, Hyperlordosis OMIM:300831
Tetrasomy 15Q26
Patent ductus arteriosus, Kyphoscoliosis, Camptodactyly OMIM:614846
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Parkinsonism, Upper limb postural tremor, Tremor, Rigidity, Hand ... OMIM:612953
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Failure to thrive, Ataxia, Cryptorchidism, Optic atrophy, Hy... ORPHA:90321
Schinzel-Giedion Syndrome
Frontal bossing, Abnormality of the stapes, Streak ovary, Aganglionic megacolon, Hypospadias, Fai... ORPHA:798
Intestinal Dysmotility Syndrome
Failure to thrive, Weight loss OMIM:620045
Cryptogenic Organizing Pneumonia
Respiratory distress, Bronchial breath sound, Crackles, Nonproductive cough, Dyspnea, Wheezing, P... ORPHA:1302
Immunodeficiency, Common Variable, 1
Decreased circulating total IgM, Decreased circulating IgG level, Impaired T cell function, Decre... OMIM:607594
Premature Ovarian Failure 6
Premature ovarian insufficiency, Streak ovary, Female infertility, Elevated circulating luteinizi... OMIM:612310
Cog8-Cdg
Skeletal muscle atrophy, Ataxia, Myoclonus, Chronic axonal neuropathy, Failure to thrive ORPHA:95428
Urban-Rogers-Meyer Syndrome
Short stature, Camptodactyly of finger, Short neck, Kyphosis, Increased circulating IgE level, Fl... ORPHA:3409
Combined Oxidative Phosphorylation Deficiency 12
Poor head control, Spastic tetraparesis, Ophthalmoplegia, Babinski sign, Ragged-red muscle fibers... OMIM:614924
Chylomicron Retention Disease
Myopathy, EMG: myopathic abnormalities ORPHA:71
Multiple Myeloma
Increased circulating IgA level, Generalized muscle weakness, Decreased circulating antibody leve... ORPHA:29073
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Lennox-Gastaut Syndrome
Falls, Myoclonus ORPHA:2382
Epilepsy, Idiopathic Generalized, Susceptibility To, 15
Myoclonus, Eyelid myoclonus OMIM:618357
Carnitine Palmitoyl Transferase Ii Deficiency, Severe Infantile Form
Myopathy, Rhabdomyolysis ORPHA:228305
Desmoplastic Small Round Cell Tumor
Cachexia, Weight loss ORPHA:83469
Choreoacanthocytosis
Peroneal muscle atrophy, Chorea, Hypertonia, Limb dystonia, Muscle fiber atrophy, Laryngeal dysto... ORPHA:2388
Double Outlet Right Ventricle
Failure to thrive, Tachypnea ORPHA:3426
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency
Impaired lymphocyte transformation with phytohemagglutinin, Decreased circulating IgG level, Abse... ORPHA:35078
Sandhoff Disease
Skeletal muscle atrophy, Exaggerated startle response, Ataxia, CNS hypomyelination, Macroglossia,... OMIM:268800
Undifferentiated Pleomorphic Sarcoma
Weight loss ORPHA:2023
Chondrodysplasia Punctata 2, X-Linked Dominant
Kyphoscoliosis, Short neck, Punctate vertebral calcifications, Hemivertebrae, Epiphyseal stipplin... OMIM:302960
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Failure to thrive OMIM:234250
Cholera
Lethargy, Tachypnea, Aspiration pneumonia, Hyperventilation ORPHA:173
Premature Ovarian Failure 2A
Secondary amenorrhea, Premature ovarian insufficiency, Elevated circulating follicle stimulating ... OMIM:300511
Scheie Syndrome
Abnormal nerve conduction velocity, Sensorineural hearing impairment ORPHA:93474
Cerebrotendinous Xanthomatosis
Optic disc pallor, Somatic sensory dysfunction, Ataxia, Abnormal auditory evoked potentials, Opti... ORPHA:909
Inherited Creutzfeldt-Jakob Disease
Amyloidosis of peripheral nerves, Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal py... ORPHA:282166
Fucosidosis
Decreased muscle mass, Kyphosis, Abnormal pyramidal sign, Spastic tetraplegia, Anterior beaking o... ORPHA:349
Premature Ovarian Failure 18
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Irregular menstr... OMIM:619203
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Immunodeficiency 43
Decreased circulating IgG level, Decreased specific antibody response to polysaccharide vaccine, ... OMIM:241600
Multiple Sulfatase Deficiency
Microcephaly, Sensorineural hearing impairment, Optic atrophy, Macrocephaly, Abnormality of perip... ORPHA:585
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis
Abnormal hip joint morphology, Ankle swelling, Joint stiffness, Knee osteoarthritis, Flexion cont... ORPHA:85408
Ovarian Dysgenesis 5
Elevated circulating luteinizing hormone level, Primary amenorrhea, Hypoplasia of the uterus, Dec... OMIM:617690
Immunodeficiency 96
Growth delay, Decreased circulating total IgM, Defective T cell proliferation, Decreased circulat... OMIM:619774
Premature Ovarian Failure 14
Primary amenorrhea, Decreased serum estradiol, Elevated circulating follicle stimulating hormone ... OMIM:618014
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type
Hypertonia, Gait disturbance, Hyperkinetic movements OMIM:236270
Intellectual Developmental Disorder, X-Linked, Syndromic 32
Kyphoscoliosis OMIM:300886
Prolactin Deficiency, Isolated
Irregular menstruation, Infertility, Reduced circulating prolactin concentration OMIM:264110
Immunodeficiency 26 With Or Without Neurologic Abnormalities
T lymphocytopenia, B lymphocytopenia, Abnormal natural killer cell morphology OMIM:615966
Spondyloenchondrodysplasia With Immune Dysregulation
Lumbar hyperlordosis, Pneumonia, Kyphoscoliosis, Increased intervertebral space, Restrictive vent... OMIM:607944
Pseudohypoparathyroidism Type 1A
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79443
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Peripheral axonal degeneration, Amyotrophic lateral scler... OMIM:602433
Neuroferritinopathy
Resting tremor, Writer's cramp, Parkinsonism, Involuntary movements, Chorea, Babinski sign, Leg d... ORPHA:157846
Complete Androgen Insensitivity Syndrome
Male infertility, Abnormal uterine cervix morphology, Testicular neoplasm, Elevated circulating l... ORPHA:99429
Myasthenia, Limb-Girdle, Autoimmune
Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Benign Schwannoma
Facial palsy, Hearing abnormality, Vertigo, Schwannoma, Peripheral schwannoma, Abnormality of the... ORPHA:252164
45,X/46,Xy Mixed Gonadal Dysgenesis
Bifid scrotum, Bilateral cryptorchidism, Epispadias, Ambiguous genitalia, female, Ambiguous genit... ORPHA:1772
Seckel Syndrome
Cachexia, Craniosynostosis, Delayed skeletal maturation, Joint hyperflexibility, Scoliosis ORPHA:808
Saethre-Chotzen Syndrome
Craniosynostosis, Prominent crus of helix, External ear malformation, Sensorineural hearing impai... ORPHA:794
Spondyloepimetaphyseal Dysplasia, Sponastrime Type
Osteopenia, Lumbar hyperlordosis, Kyphoscoliosis, Delayed skeletal maturation, Genu valgum, Platy... OMIM:271510
Seckel Syndrome 8
Kyphoscoliosis OMIM:615807
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures
Joint laxity, Ovoid vertebral bodies, Kyphoscoliosis, Short neck, Delayed proximal femoral epiphy... OMIM:271640
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Failure to thrive, Foot dorsiflexor weakness OMIM:169400
Rift Valley Fever
Back pain, Increased circulating IgG level, Increased circulating IgM level, Muscle weakness ORPHA:319251
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Respiratory distress, Skeletal muscle atrophy, Apnea, Patent ductus arteriosus, Flexion contractu... ORPHA:17
Infantile Osteopetrosis With Neuroaxonal Dysplasia
Abnormal myelination ORPHA:85179
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Respiratory insufficiency du... OMIM:618291
Hereditary Hyperekplexia
Ataxia, Rigidity, Hypertonia, Gait disturbance, Myoclonus, Fasciculations, Spasticity ORPHA:3197
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis
Tachypnea, Respiratory insufficiency, Hepatocellular necrosis, Respiratory failure, Dystonia, Fai... OMIM:618278
Xfe Progeroid Syndrome
Cachexia, Failure to thrive, Poor coordination, Scoliosis OMIM:610965
Branchiogenic Deafness Syndrome
Mixed hearing impairment, Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sens... ORPHA:50815
Allergic Bronchopulmonary Aspergillosis
Asthma, Bronchiectasis, Respiratory insufficiency, Weight loss, Cough, Pulmonary arterial hyperte... ORPHA:1164
Marshall-Smith Syndrome
Thoracic scoliosis, Apnea, Large sternal ossification centers, Accelerated skeletal maturation, T... OMIM:602535
Laryngeal Neuroendocrine Tumor
Weight loss, Exertional dyspnea ORPHA:100083
Tay-Sachs Disease
Skeletal muscle atrophy, Exaggerated startle response, Incoordination, Lower limb muscle weakness... ORPHA:845
46,Xy Difference Of Sex Development Due To Isolated 17,20-Lyase Deficiency
Hypoplasia of the vagina, Dysmenorrhea, Decreased serum estradiol, Decreased circulating androgen... ORPHA:90796
Congenital Myopathy 21 With Early Respiratory Failure
Intrauterine growth retardation, EMG: myopathic abnormalities OMIM:620326
Hajdu-Cheney Syndrome
Osteopenia, Joint laxity, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Tall lumbar verte... OMIM:102500
Prolactinoma
Male hypogonadism, Hypogonadotropic hypogonadism, Vertigo, Internal ophthalmoplegia, Decreased fe... ORPHA:2965
Premature Ovarian Failure 16
Reduced antral follicle count, Premature ovarian insufficiency, Decreased serum estradiol, Elevat... OMIM:618723
Wolman Disease
Cachexia ORPHA:75233
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Occipital encephalocele, Hydrocephalus, Abnormal myelination ORPHA:352682
Monosomy 18P
Generalized dystonia, Kyphoscoliosis, Short neck ORPHA:1598
46,Xy Sex Reversal 3
Penoscrotal hypospadias, Elevated circulating luteinizing hormone level, Hypoplasia of the uterus... OMIM:612965
Lamb-Shaffer Syndrome
Ataxia, Fused cervical vertebrae, Thoracic kyphosis, Scoliosis, Abnormal social behavior ORPHA:530983
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Camptodactyly, Arthrogryposis multiplex congenita, Joint... OMIM:601701
Wolfram Syndrome 1
Diabetes mellitus, Ataxia, Diabetes insipidus, Sensorineural hearing impairment, Optic atrophy, H... OMIM:222300
Neuraminidase Deficiency
Skeletal muscle atrophy, Short stature, Slurred speech, Dysmetria, Myoclonus OMIM:256550
Immunodeficiency 17
Autoimmune hemolytic anemia, Decreased proportion of CD8-positive T cells, Chronic decreased ciru... OMIM:615607
Inherited Isolated Adrenal Insufficiency Due To Partial Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal calcification, Adrenal hypoplasia, Sex reversal, In... ORPHA:289548
Trisomy 10P
Frontal bossing, Absent gallbladder, Posteriorly rotated ears, Small for gestational age, Abnorma... ORPHA:171929
Crisponi Syndrome
Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Premature Ovarian Failure 20
Secondary amenorrhea, Female infertility, Elevated circulating follicle stimulating hormone level... OMIM:619938
46,Xy Difference Of Sex Development-Adrenal Insufficiency Due To Cyp11A1 Deficiency
Decreased circulating cortisol level, Adrenal hypoplasia, Sex reversal, Increased circulating ren... ORPHA:168558
Kearns-Sayre Syndrome
Progressive external ophthalmoplegia, Ragged-red muscle fibers, Ataxia, Muscle weakness OMIM:530000
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:1548
Pseudoachondroplasia
Waddling gait, Skeletal myopathy, Disproportionate short-limb short stature ORPHA:750
Mitochondrial Trifunctional Protein Deficiency 1
Myopathy, Failure to thrive, Rhabdomyolysis, Small for gestational age OMIM:609015
Exercise-Induced Malignant Hyperthermia
Ataxia, Crackles, Rhabdomyolysis, Tachypnea, Hypocapnia, Lethargy ORPHA:466650
Premature Ovarian Failure 15
Irregular menstruation, Secondary amenorrhea, Elevated circulating follicle stimulating hormone l... OMIM:618096
Basilar Impression, Primary
Limb muscle weakness, Kyphoscoliosis, Short neck OMIM:109500
Kallmann Syndrome With Spastic Paraplegia
Hypothalamic gonadotropin-releasing hormone deficiency, Eunuchoid habitus, Ataxia, Hypogonadotrop... OMIM:308750
Melas
Peripheral axonal neuropathy, Abnormal central motor function, Ataxia, Ragged-red muscle fibers, ... ORPHA:550
Classic Hodgkin Lymphoma
Ataxia, Bone pain, Osteolysis, Respiratory insufficiency, Weight loss, Cough ORPHA:391
Mucopolysaccharidosis, Type Iiic
Kyphoscoliosis, Joint stiffness, Ovoid thoracolumbar vertebrae, Beaking of vertebral bodies, Dens... OMIM:252930
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Epilepsy, Idiopathic Generalized, Susceptibility To, 9
Morning myoclonic jerks, Episodic ataxia, Myoclonus, Truncal ataxia OMIM:607682
Vitamin B12-Unresponsive Methylmalonic Acidemia
Ataxia, Paraparesis, Optic atrophy, Choreoathetosis, Tetraparesis ORPHA:27
Chediak-Higashi Syndrome
Decreased nerve conduction velocity, Ataxia, Muscle weakness, Foot dorsiflexor weakness OMIM:214500
Autoinflammation, Panniculitis, And Dermatosis Syndrome
Increased circulating IgM level, Increased circulating IgA level OMIM:617099
Monosomy 18Q
Kyphoscoliosis, Patent ductus arteriosus, Delayed skeletal maturation, Choreoathetosis, Atlantoax... ORPHA:1600
Kagami-Ogata Syndrome
Respiratory failure requiring assisted ventilation, Diastasis recti, Kyphoscoliosis, Large for ge... ORPHA:254519
Noonan Syndrome
Low-set, posteriorly rotated ears, Hypogonadotropic hypogonadism, Aplasia of the semicircular can... ORPHA:648
Kleefstra Syndrome 2
Kyphosis, Scoliosis OMIM:617768
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency
Decreased muscle mass, Decreased muscle glycogen content, Upper limb muscle weakness, Shoulder gi... ORPHA:263297
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Short stature, Facial palsy, Aplasia of the pectoralis major muscle, Gro... ORPHA:1358
Episodic Ataxia Type 7
Episodic ataxia, Hyperkinetic movements ORPHA:209970
Classical-Like Ehlers-Danlos Syndrome Type 2
Osteopenia, Joint dislocation, Thoracic scoliosis, Sacral dimple, Phalangeal dislocation, Kyphosc... ORPHA:536532
Gaucher Disease, Type Iii
Decreased body weight, Ataxia, Myoclonus, Spastic paraparesis OMIM:231000
Spinal Arteriovenous Metameric Syndrome
Abnormality of the vertebral column, Bone pain, Kyphoscoliosis ORPHA:53721
Ehlers-Danlos Syndrome, Classic-Like
Proximal amyotrophy, Muscle fiber splitting OMIM:606408
Sneddon Syndrome
Decreased circulating total IgM, Facial palsy OMIM:182410
Pulmonary Non-Tuberculous Mycobacterial Infection
Respiratory distress, Crackles, Dyspnea, Chronic pulmonary obstruction, Pneumothorax, Bronchiecta... ORPHA:411703
Clcn4-Related X-Linked Intellectual Disability Syndrome
Lower limb spasticity, Delayed myelination, Chorea, Progressive cerebellar ataxia, Upper limb spa... ORPHA:485350
Scorpion Envenomation
Ataxia, Tremor, Tachypnea, Rhabdomyolysis, Abnormal nasal mucus secretion ORPHA:466677
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1
Incomplete partition of the cochlea type II, Sensorineural hearing impairment, Microcephaly OMIM:617660
Dystonia-Aphonia Syndrome
Generalized dystonia, Macroglossia, Myoclonus, Oromandibular dystonia, Mixed demyelinating and ax... ORPHA:412217
Pyruvate Dehydrogenase E1-Alpha Deficiency
Small for gestational age, Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia OMIM:312170
Otofaciocervical Syndrome 1
Conductive hearing impairment, Mixed hearing impairment, Cupped ear, Hypoplasia of the cochlea OMIM:166780
Cockayne Syndrome
High-frequency sensorineural hearing impairment, Optic disc pallor, Somatic sensory dysfunction, ... ORPHA:191
19Q13.11 Microdeletion Syndrome
Congenital hip dislocation, Failure to thrive, Cachexia ORPHA:217346
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Testicular atrophy, Low-set ears OMIM:601163
Cardiospondylocarpofacial Syndrome
Decreased testicular size, Posteriorly rotated ears, Congenital sensorineural hearing impairment,... OMIM:157800
Perry Syndrome
Tremor, Abnormality of extrapyramidal motor function, Parkinsonism, Weight loss ORPHA:178509
Aregenerative Anemia
Pancytopenia, Erythroid hypoplasia, Reticulocytopenia, Lymphadenopathy, Bone marrow hypocellulari... ORPHA:101096
Postpoliomyelitis Syndrome
Skeletal muscle atrophy, Fasciculations ORPHA:2942
Tatton-Brown-Rahman Syndrome
Patent ductus arteriosus, Joint hypermobility, Obesity, Kyphoscoliosis ORPHA:404443
Tempi Syndrome
Increased circulating IgG level ORPHA:284227
Chromosome 2P16.1-P15 Deletion Syndrome
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly OMIM:612513
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Joint laxity, Ataxia, Kyphoscoliosis, Tremor, Kyphosis, Patent ductus arteriosus, Left ventricula... OMIM:300967
Campomelic Dysplasia
Respiratory distress, Thoracic scoliosis, Apnea, Cervical kyphosis, Delayed epiphyseal ossificati... OMIM:114290
Chronic Beryllium Disease
Lymphocytic interstitial pneumonia, Dyspnea, Abnormality on pulmonary function testing, Abnormal ... ORPHA:133
Partial Androgen Insensitivity Syndrome
Bifid scrotum, Fused labia majora, Bilateral cryptorchidism, Blind vagina, Increased circulating ... ORPHA:90797
Sanjad-Sakati Syndrome
Postnatal growth retardation, Myopathy, Short stature, Severe intrauterine growth retardation ORPHA:2323
Congenital Disorder Of Deglycosylation 1
Anhidrosis, Pain insensitivity, Microcephaly, Chorea, Brachycephaly, Dysmetria, Hyperhidrosis, At... OMIM:615273
Thrombocytopenia With Elevated Serum Iga And Renal Disease
Increased circulating IgA level OMIM:314000
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Peho-Like Syndrome
Optic atrophy, Myoclonus OMIM:617507
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cachexia, Rhabdomyosarcoma, Short neck, Muscle weakness ORPHA:647
Immunodeficiency 60 And Autoimmunity
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgE, Decr... OMIM:618394
Lethal Congenital Contracture Syndrome 10
Torticollis, Thoracic scoliosis, Stiff neck, Short neck, Macroglossia, Increased variability in m... OMIM:617022
Mitochondrial Trifunctional Protein Deficiency
Rhabdomyolysis, Babinski sign, Skeletal myopathy, Tip-toe gait, Left ventricular hypertrophy, Fre... ORPHA:746
Immunodeficiency, Common Variable, 6
Complete or near-complete absence of specific antibody response to tetanus vaccine, Chronic decre... OMIM:613496
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To
Lethargy, Tachypnea OMIM:615751
Isolated Splenogonadal Fusion
Abnormal penis morphology, Unilateral cryptorchidism, Bilateral cryptorchidism, Increased circula... ORPHA:457083
Premature Ovarian Failure 9
Premature ovarian insufficiency, Elevated circulating luteinizing hormone level, Hypoplasia of th... OMIM:615724
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Death in infancy, Muscular dystrophy, Death in childhood OMIM:614643
Methylmalonic Acidemia With Homocystinuria, Type Cblc
Ataxia, Severe demyelination of the white matter, Optic atrophy, Poor fine motor coordination, Fa... ORPHA:79282
T-Cell Immunodeficiency With Thymic Aplasia
Decreased proportion of naive T cells, Aplasia of the thymus, Thyroiditis, Lymphadenopathy, T lym... ORPHA:83471
Mucolipidosis Type Ii
Hip contracture, Respiratory failure requiring assisted ventilation, Prominent metopic ridge, Dia... ORPHA:576
Myoectodermal Gonadal Dysgenesis Syndrome
Posteriorly rotated ears, Small for gestational age, Elevated circulating luteinizing hormone lev... OMIM:618419
Zimmermann-Laband Syndrome 2
Macroglossia, Kyphosis, Short neck OMIM:616455
Schinzel-Giedion Midface Retraction Syndrome
Macroglossia, Opisthotonus OMIM:269150
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis ORPHA:2617
Acyl-Coa Dehydrogenase 9 Deficiency
Myopathy, EMG: myopathic abnormalities ORPHA:99901
Mitochondrial Complex Iv Deficiency, Nuclear Type 5
Small for gestational age, Ataxia, Tremor, Truncal ataxia, Dysmetria, Dystonia, Left ventricular ... OMIM:220111
Hyperglycinemia, Lactic Acidosis, And Seizures
Spastic tetraplegia, Joint contracture, Myoclonus, Leukodystrophy OMIM:614462
Overlap Myositis
Proximal muscle weakness in upper limbs, Subluxation of the small joints of the hand, Perifascicu... ORPHA:206572
Immunodeficiency 40
T lymphocytopenia, Eosinophilic granuloma, Thrombocytopenia, Reduced antigen-specific T cell prol... OMIM:616433
X-Linked Cerebral Adrenoleukodystrophy
Lower limb spasticity, Ataxia, Spastic tetraparesis, Inability to walk, Hoffmann sign, Dysmetria,... ORPHA:139396
Combined Pituitary Hormone Deficiencies, Genetic Forms
Septo-optic dysplasia, Ectopic posterior pituitary, Ectopic anterior pituitary gland, Anterior pi... ORPHA:95494
Abeta Amyloidosis, Iowa Type
Gait disturbance, Myoclonus ORPHA:324708
Infantile Neuroaxonal Dystrophy
Peripheral axonal neuropathy, Ataxia, Optic atrophy, Diffuse axonal swelling, Abnormal autonomic ... ORPHA:35069
Hsd10 Disease, Infantile Type
Spastic tetraparesis, Poor coordination, Optic atrophy, Spastic diplegia, Choreoathetosis, Hyperk... ORPHA:391428
Pallister-Hall Syndrome
Small scrotum, Adrenal hypoplasia, Large for gestational age, Gonadotropin deficiency, Micropenis... ORPHA:672
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology, Decreased compound muscle action potential amplitude OMIM:606353
Charge Syndrome
Bifid scrotum, Hypoplasia of the semicircular canal, Micropenis, Low-set, posteriorly rotated ear... ORPHA:138
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome
Pancytopenia, Abnormal lymphocyte count, Absence of lymph node germinal center, Thrombocytopenia,... ORPHA:79124
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Intrauterine growth retardation, Myopathy OMIM:617713
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Hypertonia, Myoclonus OMIM:619092
O'Donnell-Luria-Rodan Syndrome
Kyphosis OMIM:618512
Galactose Epimerase Deficiency
Weight loss ORPHA:79238
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Recurrent fractures, Kyphoscoliosis, Inability to walk, Kyphosis, Unsteady... ORPHA:3063
15Q24 Microdeletion Syndrome
Small for gestational age, Congenital diaphragmatic hernia, Kyphosis, Obesity, Scoliosis, Failure... ORPHA:94065
Primary Myelofibrosis
Cachexia ORPHA:824
Premature Ovarian Failure 21
Streak ovary, Precocious puberty in females, Secondary amenorrhea, Primary amenorrhea, Decreased ... OMIM:620311
Igg4-Related Pachymeningitis
Low back pain, Lower limb muscle weakness, Increased circulating IgG4 level, Complement deficienc... ORPHA:449427
Trisomy 18
Cachexia, Hypertonia, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:3380
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 7
Rigidity, Babinski sign, Gait disturbance, Myoclonus OMIM:600795
Intellectual Developmental Disorder, Autosomal Recessive 78
Delayed skeletal maturation, Cubitus valgus, Asthma, Kyphoscoliosis OMIM:620237
Immunodeficiency 73A With Defective Neutrophil Chemotaxis And Leukocytosis
Abnormally low T cell receptor excision circle level, Macrocytic anemia, Neutrophilia, Leukocytos... OMIM:608203
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Dystonia, Facial hypotonia, Limb joint contracture, Small for gestational age,... ORPHA:404454
Mevalonic Aciduria
Ataxia, Failure to thrive in infancy, Kyphoscoliosis, Progressive cerebellar ataxia, Failure to t... OMIM:610377
Brachyolmia Type 3
Kyphosis, Platyspondyly, Scoliosis, Short neck OMIM:113500
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Increased circulating IgE level, Scoliosis OMIM:147060
Sporadic Creutzfeldt-Jakob Disease
Ataxia, Babinski sign, Abnormal pyramidal sign, Abnormality of extrapyramidal motor function, Myo... ORPHA:204
Microtriplication 11Q24.1
Speech apraxia, Hyperkinetic movements, Short stature ORPHA:289522
Alzheimer Disease 3
Spastic tetraparesis, Babinski sign, Abnormality of extrapyramidal motor function, Myoclonus, Gai... OMIM:607822
Acute Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... ORPHA:529799
Chronic Bilirubin Encephalopathy
Sensorineural hearing impairment, Abnormal thalamic MRI signal intensity, Abnormal auditory evoke... ORPHA:529808
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Kyphoscoliosis, Scoliosis ORPHA:391307
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities
Kyphoscoliosis, Platyspondyly, Delayed ossification of carpal bones, Cervical instability, Thorac... OMIM:617425
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 3rd finger, Kyphosis, Contracture of the... OMIM:130060
Kimura Disease
Increased circulating IgE level ORPHA:482
Scleromyxedema
Myopathy, Abnormal skeletal muscle morphology ORPHA:167635
Symptomatic Form Of Hfe-Related Hemochromatosis
Arthropathy, Decreased muscle mass, Joint stiffness, Osteoporosis, Weight loss, Arthritis, Joint ... ORPHA:465508
Combined Immunodeficiency Due To Crac Channel Dysfunction
Myopathy ORPHA:169090
Pneumocystosis
Respiratory failure requiring assisted ventilation, Nonproductive cough, Dyspnea, Respiratory ins... ORPHA:723
Meier-Gorlin Syndrome 1
Frontal bossing, Clitoral hypertrophy, Small for gestational age, Microcephaly, Cryptorchidism, H... OMIM:224690
Phosphoserine Aminotransferase Deficiency
Hypertonia, Myoclonus OMIM:610992
Premature Ovarian Failure 11
Elevated circulating follicle stimulating hormone level, Secondary amenorrhea, Oligomenorrhea OMIM:616946
Histiocytoid Cardiomyopathy
Lethargy, Failure to thrive, Tachypnea, Cough ORPHA:137675
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor, Choreoa... OMIM:608643
Myotonic Dystrophy 1
Facial diplegia, Hypogonadism, Cholelithiasis, Testicular atrophy, Muscle weakness OMIM:160900
Xeroderma Pigmentosum-Cockayne Syndrome Complex
Spasticity, Ataxia, Cachexia ORPHA:220295
Primary Triglyceride Deposit Cardiomyovasculopathy
Increased muscle lipid content, Abnormality of the calf musculature, Skeletal myopathy, Abnormali... ORPHA:565612
Schwannomatosis, Vestibular
Ataxia, Bilateral vestibular schwannoma, Vertigo, Peripheral schwannoma, Occasional neurofibromas... OMIM:101000
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome
Joint laxity, Ataxia, Kyphoscoliosis, Shyness, Patent ductus arteriosus, Synostosis involving the... ORPHA:466791
Melnick-Needles Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Hip dislocation, Osteolytic defects of ... OMIM:309350
Mogs-Cdg
Absent brainstem auditory responses, External genital hypoplasia, Sensorineural hearing impairmen... ORPHA:79330
You-Hoover-Fong Syndrome
Ataxia, Paroxysmal bursts of laughter, Kyphoscoliosis OMIM:616954
Infantile Cataract, Skin Abnormalities, Glutamate Excess, And Impaired Intellectual Development
Kyphoscoliosis OMIM:618339
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Autoimmune Hepatitis
Increased circulating IgG level, Increased circulating antibody level ORPHA:2137
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Ataxia, Optic atrophy, Tetraplegia, Fasciculations, Progressive spastici... ORPHA:496641
Mend Syndrome
Abnormal auditory evoked potentials, Cryptorchidism, Wide anterior fontanel, Low-set ears, Failur... ORPHA:401973
Stormorken Syndrome
Myopathy, Short stature OMIM:185070
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Eunuchoid habitus, Elevated circulating luteinizing hormone level, Breast aplasia, Elevated circu... ORPHA:3044
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Increased circulating interleukin 6 concentration, Short stature, Increa... OMIM:256040
Pseudoleprechaunism Syndrome, Patterson Type
Abnormal odontoid process morphology, Kyphoscoliosis, Delayed skeletal maturation, Flat acetabula... ORPHA:2976
Laryngeal Abductor Paralysis
Vocal cord paralysis OMIM:150260
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Kyphosis, Joint contracture of the 5th finger, Camptodactyly of finger, Scoliosis ORPHA:1883
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Mu-Heavy Chain Disease
Increased circulating antibody level ORPHA:100024
Orthostatic Hypotension 1
Orthostatic hypotension, Reduced circulating prolactin concentration, Retrograde ejaculation OMIM:223360
Recurrent Metabolic Encephalomyopathic Crises-Rhabdomyolysis-Cardiac Arrhythmia-Intellectual Disability Syndrome
Incoordination, Ataxia, Acute rhabdomyolysis, Clonus, Involuntary movements, Babinski sign, Optic... ORPHA:480864
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Acute Myelomonocytic Leukemia
Dyspnea, Weight loss ORPHA:517
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
48,Xxxy Syndrome
Short neck, Tremor, Pulmonary embolism, Asthma, Elbow dislocation, Hip dislocation, Obesity, Join... ORPHA:96263
Hereditary Late-Onset Parkinson Disease
Resting tremor, Parkinsonism, Akinesia, Rigidity, Weight loss, Bradykinesia, Shuffling gait, Park... ORPHA:411602
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Slender build, Scoliosis OMIM:300676
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Osteopenia, Joint laxity, Joint dislocation, Congenital hip dislocation, Protrusio acetabuli, Kyp... OMIM:225400
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Cachexia ORPHA:3217
Smith-Mccort Dysplasia 1
Waddling gait, Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability... OMIM:607326
Immunodeficiency 93 And Hypertrophic Cardiomyopathy
Agammaglobulinemia, Decreased circulating total IgM, Decreased circulating IgG level OMIM:619705
Mosaic Variegated Aneuploidy Syndrome
Short stature, Rhabdomyosarcoma, Growth delay, Muscular dystrophy, Intrauterine growth retardation ORPHA:1052
Erythema Elevatum Diutinum
Increased circulating antibody level ORPHA:90000
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Recurrent fractures, Kyphoscoliosis, Kyphosis, Osteoporosis, Increased susceptibility... OMIM:259770
Neutropenia, Severe Congenital, 5, Autosomal Recessive
Increased circulating antibody level OMIM:615285
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Paraspinal neurofibroma, Palmar neurofibroma, Bilateral vestibular schwannoma OMIM:162260
Rheumatic Fever
Chorea, Aplasia/Hypoplasia of the abdominal wall musculature, Gait disturbance, Hemiballismus, Fa... ORPHA:3099
Blepharophimosis, Ptosis, And Epicanthus Inversus
Premature ovarian insufficiency, Female infertility, Increased circulating gonadotropin level, Cu... OMIM:110100
Rhabdoid Tumor
Hemiplegia, Oculomotor nerve palsy, Cerebral palsy, Weight loss ORPHA:69077
Acquired Hypertrichosis Lanuginosa
Macroglossia, Weight loss ORPHA:2221
Methemoglobinemia And Ambiguous Genitalia
Bifid scrotum, Scrotal hypospadias, Hypospadias, Elevated circulating luteinizing hormone level, ... OMIM:250790
Acute Transverse Myelitis
Back pain, Impaired vibratory sensation, Somatic sensory dysfunction, Dysesthesia, Dissociated se... ORPHA:139417
Arachnoid Cyst
Back pain, Distal muscle weakness, Facial palsy, Inability to walk, Paraparesis, Slurred speech, ... ORPHA:2356
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Facial palsy, Hypoplasia of the musculature, Flexion contracture, Myopat... OMIM:254940
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Broad-based gait, Cachexia, Paralysis, Oculomotor apraxia, Spastic paraplegia, Ophthalmoplegia, L... ORPHA:2072
Interstitial Lung Disease 2
Increased circulating antibody level OMIM:178500
Multisystemic Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Patent ductus arteriosus, Tachypnea OMIM:613834
Cockayne Syndrome Type 2
Lower limb spasticity, Ataxia, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Diffic... ORPHA:90322
Premature Ovarian Failure 13
Female infertility, Hypoplasia of the uterus, Elevated circulating follicle stimulating hormone l... OMIM:617442
Spinocerebellar Ataxia 32
Azoospermia, Ataxia, Infertility, Testicular atrophy OMIM:613909
Severe X-Linked Intellectual Disability, Gustavson Type
Small for gestational age, Optic atrophy, Contractures of the large joints, Hypertonia, Myoclonus... ORPHA:3078
Thymic Carcinoma
Fatigable weakness, Diaphragmatic paralysis, Weight loss ORPHA:99868
Spinocerebellar Ataxia Type 32
Male infertility, Progressive cerebellar ataxia, Azoospermia, Testicular atrophy ORPHA:276183
Neurodevelopmental Disorder With Neonatal Respiratory Insufficiency, Hypotonia, And Feeding Difficulties
Delayed CNS myelination, Myoclonus, CNS hypomyelination OMIM:616158
Hemimegalencephaly
Hemiparesis, Optic atrophy, Myoclonus ORPHA:99802
Hereditary Xanthinuria
Myopathy ORPHA:3467
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Elbow flexion contracture, Hemivertebrae, Hip di... OMIM:200980
Chronic Nonbacterial Osteomyelitis/Chronic Recurrent Multifocal Osteomyelitis
Osteomyelitis, Abnormal sacroiliac joint morphology, Craniofacial osteosclerosis, Bone pain, Oste... ORPHA:324964
Peripheral Primitive Neuroectodermal Tumor
Back pain, Abnormal thoracic spine morphology, Torticollis, Somatic sensory dysfunction, Weight l... ORPHA:370348
Dravet Syndrome
Incoordination, Parkinsonism, Rigidity, Cogwheel rigidity, Bradykinesia, Poor fine motor coordina... ORPHA:33069
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Myoclonus, Intention tremor OMIM:610539
Pontocerebellar Hypoplasia, Type 10
Short neck, Kyphoscoliosis, Limb hypertonia OMIM:615803
Nodular Lymphocyte Predominant Hodgkin Lymphoma
Weight loss ORPHA:86893
Galloway-Mowat Syndrome 7
Cubitus valgus, Kyphoscoliosis OMIM:618348
Hurler Syndrome
Abnormal nerve conduction velocity, Frontal bossing, Hearing impairment, Dolichocephaly ORPHA:93473
Usher Syndrome
Myopathy, Ataxia ORPHA:886
Behavioral Variant Of Frontotemporal Dementia
Gait disturbance, Abnormality of extrapyramidal motor function, Fasciculations, Upper motor neuro... ORPHA:275864
Early Myoclonic Encephalopathy
Myoclonus ORPHA:1935
Paternal Uniparental Disomy Of Chromosome 5
Kyphoscoliosis ORPHA:96190
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Babinski sign, Abnormal pyramidal... OMIM:617527
Neutropenia, Severe Congenital, 1, Autosomal Dominant
Increased circulating antibody level OMIM:202700
Dystrophic Epidermolysis Bullosa Pruriginosa
Increased circulating IgE level ORPHA:89843
Sandhoff Disease, Infantile Form
Exaggerated startle response, Myoclonus, Spasticity, CNS hypomyelination ORPHA:309155
Autoimmune Lymphoproliferative Syndrome, Type Iii
Reduced natural killer cell activity, Absent isohemagglutinin level, Increased circulating antibo... OMIM:615559
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome
Weight loss ORPHA:2198
Idiopathic Chronic Eosinophilic Pneumonia
Crackles, Dyspnea, Nonproductive cough, Wheezing, Asthma, Weight loss, Hypoxemia, Restrictive ven... ORPHA:2902
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities
Exaggerated startle response, Limb joint contracture, Tremor, Fasciculations, Intrauterine growth... OMIM:620327
Barth Syndrome
Growth delay, Skeletal myopathy, Gait disturbance OMIM:302060
Osteogenesis Imperfecta, Type Xx
Multiple prenatal fractures, Vertebral compression fracture, Wormian bones, Kyphoscoliosis OMIM:618644
Epidermolysis Bullosa Simplex With Pyloric Atresia
Flexion contracture, Muscular dystrophy ORPHA:158684
Neurodevelopmental Disorder With Facial Dysmorphism, Absent Language, And Pseudo-Pelger-Huet Anomaly
Kyphoscoliosis OMIM:620075
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Wrinkly Skin Syndrome
Osteopenia, Decreased muscle mass, Congenital hip dislocation, Kyphoscoliosis, Delayed closure of... ORPHA:2834
Chilblain Lupus
Increased circulating antibody level ORPHA:90280
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Macroglossia, Scoliosis OMIM:301040
Alpha-Mannosidosis
Macroglossia, Kyphosis, Scoliosis, Short neck ORPHA:61
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Carnitine Palmitoyltransferase Ii Deficiency
Myopathy, Rhabdomyolysis, Renal tubular epithelial necrosis ORPHA:157
Dyskeratosis Congenita, Autosomal Recessive 5
Postnatal growth retardation, Intrauterine growth retardation, Bone marrow hypocellularity, Decre... OMIM:615190
Marfan Syndrome
Decreased muscle mass, Genu recurvatum, Protrusio acetabuli, Kyphoscoliosis, Flexion contracture,... OMIM:154700
Arima Syndrome
Dyspnea, Tachypnea, Ataxia OMIM:243910
Glycine Encephalopathy 1
Myoclonus OMIM:605899
Parkinson Disease 1, Autosomal Dominant
Resting tremor, Parkinsonism, Rigidity, Bradykinesia, Gait disturbance, Myoclonus, Shuffling gait... OMIM:168601
Inhalational Botulism
Muscle weakness, Paralysis ORPHA:254504
Non-Acquired Panhypopituitarism
Ectopic posterior pituitary, Ectopic anterior pituitary gland, Hypogonadotropic hypogonadism, Dec... ORPHA:90695
Immunodeficiency 103, Susceptibility To Fungal Infections
Increased circulating IgE level OMIM:212050
Agammaglobulinemia, X-Linked
Agammaglobulinemia, T lymphocytopenia, Lymph node hypoplasia, Decreased circulating total IgM, B ... OMIM:300755
X-Linked Acrogigantism
Decreased thyroid-stimulating hormone level, Enlarged pituitary gland, Increased body mass index,... ORPHA:300373
Fg Syndrome Type 1
Limited elbow extension and supination, Broad-based gait, Sacral dimple, Progressive flexion cont... ORPHA:93932
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Macroorchidism, Elevated circulating growth hor... ORPHA:562
Frasier Syndrome
Streak ovary, Hypergonadotropic hypogonadism, Increased circulating gonadotropin level, Male pseu... ORPHA:347
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome
Progressive flexion contractures, Ataxia, Delayed myelination, Chorea, Choreoathetosis, Hyperkine... ORPHA:522077
Mucopolysaccharidosis, Type Iva
Waddling gait, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid proc... OMIM:253000
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Failure to thrive ORPHA:583
Myoclonic Epilepsy Of Infancy
Hemiplegia, Poor motor coordination, Myoclonus, Poor hand-eye coordination ORPHA:86909
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome
Abnormal myelination, Dystonia, Action tremor, Rigidity, Truncal ataxia, Bradykinesia, Poor fine ... ORPHA:309854
Ataxia-Telangiectasia
Decreased circulating IgG level, Decreased circulating IgG2 level, Acute lymphoblastic leukemia, ... OMIM:208900
Robinow Syndrome, Autosomal Dominant 2
Sacral dimple, Calvarial osteosclerosis, Kyphoscoliosis, Camptodactyly OMIM:616331
Frank-Ter Haar Syndrome
Osteopenia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Osteoporosis, Pro... OMIM:249420
Ras-Associated Autoimmune Leukoproliferative Disorder
Decreased lymphocyte apoptosis, Increased circulating antibody level OMIM:614470
Lymphangiectasia, Intestinal
Decreased circulating IgG level OMIM:152800
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta
Decreased circulating total IgA, Decreased circulating IgG level, Increased circulating antibody ... ORPHA:169160
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Tetrasomy 9P
Arthritis, Myositis, Pericarditis ORPHA:3310
Chédiak-Higashi Syndrome
Decreased nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Muscle weakness ORPHA:167
Autoimmune Lymphoproliferative Syndrome
Increased circulating IgA level, Increased circulating IgE level, Decreased specific anti-polysac... ORPHA:3261
Hereditary Central Diabetes Insipidus
Lethargy, Weight loss ORPHA:30925
Peeling Skin Syndrome 1
Increased circulating IgE level, Short stature OMIM:270300
Aortic Arch Interruption
Respiratory distress, Patent ductus arteriosus, Tachypnea, Left ventricular hypertrophy, Exertion... ORPHA:2299
Transcobalamin Ii Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Muscle weakness, Decreased circ... OMIM:275350
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 4A
Spastic ataxia, Generalized dystonia, Cerebral palsy, Spastic tetraparesis, Paraparesis, Dystonia... OMIM:620358
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:616100
Wilson Disease
Decreased nerve conduction velocity, Hypoesthesia, Limb muscle weakness, Hypoparathyroidism OMIM:277900
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Primary Biliary Cholangitis
Increased circulating IgM level, Increased circulating IgA level ORPHA:186
Cutis Laxa, Autosomal Recessive, Type Iid
Kyphoscoliosis, Pneumothorax, Hip dislocation, Camptodactyly, Joint contracture, Failure to thrive OMIM:617403
Mitochondrial Complex Iv Deficiency, Nuclear Type 16
Failure to thrive, Myoclonus, Decreased body weight OMIM:619060
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Axial hypotonia, Vocal cord paralysis, Myoclonus, Dystonia, Spasticity ORPHA:500144
Inflammatory Skin And Bowel Disease, Neonatal, 2
Increased circulating IgE level OMIM:616069
Diffuse Alveolar Hemorrhage
Respiratory failure requiring assisted ventilation, Dyspnea, Increased DLCO, Weight loss, Hypoxem... ORPHA:90060
Rh Deficiency Syndrome
Hypoxemia, Tachypnea ORPHA:71275
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Obesity, Hyperlordosis ORPHA:3085
Igg4-Related Submandibular Gland Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449432
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Hypophosphatemic rickets, Recurrent fractures, Kyphoscoliosis OMIM:163200
Sponastrime Dysplasia
Joint laxity, Lumbar hyperlordosis, Small for gestational age, Kyphoscoliosis, Avascular necrosis... ORPHA:93357
Localized Scleroderma
Skeletal muscle atrophy, Flexion contracture, Myopathy ORPHA:90289
Lymphoid Interstitial Pneumonia
Crackles, Dyspnea, Wheezing, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defe... ORPHA:79128
Autoinflammatory Disease, Systemic, X-Linked
Decreased circulating total IgM, Complete or near-complete absence of specific antibody response ... OMIM:301081
Double Outlet Left Ventricle
Failure to thrive, Patent ductus arteriosus, Tachypnea ORPHA:3427
Joubert Syndrome 5
Central apnea, Ataxia, Episodic tachypnea, Neonatal breathing dysregulation OMIM:610188
Vipoma
Neoplasm of the pancreas, Diabetes mellitus, Follicular thyroid carcinoma, Elevated circulating g... ORPHA:97282
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Skeletal muscle hypertrophy, Myopathy, Proximal upper limb muscle hypertrophy, Muscle hypertrophy... ORPHA:280365
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii
Hip contracture, Delayed cranial suture closure, Severe generalized osteoporosis, Kyphoscoliosis,... OMIM:210730
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Generalized muscle weakness, Muscular dystrophy, Myoclonus, Spasticity, Muscle weakness OMIM:253280
Graves Disease, Susceptibility To, 1
Muscle weakness, Weight loss OMIM:275000
Central Diabetes Insipidus
Lethargy, Failure to thrive, Weight loss ORPHA:178029
Osteosarcoma
Pathologic fracture, Joint swelling, Osteolysis, Weight loss ORPHA:668
Developmental And Epileptic Encephalopathy 23
Myoclonus OMIM:615859
Acth-Independent Macronodular Adrenal Hyperplasia
Kyphosis, Truncal obesity, Skeletal muscle atrophy OMIM:219080
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Kyphosis, Obesity, Abdominal obesity, Biconcave vertebral bodies, Verteb... OMIM:219090
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Joint contractu... OMIM:609029
Pseudohypoparathyroidism Type 1C
Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, Reduced ci... ORPHA:79444
4Q21 Microdeletion Syndrome
Tremor, Kyphosis, Scoliosis, Short neck ORPHA:238750
Farber Disease
Skeletal muscle atrophy, Paraparesis, Flexion contracture, Myoclonus, Spasticity, Failure to thrive ORPHA:333
Bilateral Perisylvian Polymicrogyria
Lower limb spasticity, Paraparesis, Flexion contracture, Oromotor apraxia, Spastic tetraplegia, D... ORPHA:98889
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome
Increased circulating IgG level, Increased circulating IgM level ORPHA:562639
Central Nervous System Calcification-Deafness-Tubular Acidosis-Anemia Syndrome
Head titubation, Absent brainstem auditory responses, Vestibular areflexia, Spastic tetraplegia ORPHA:3240
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Hypergonadotropic hypogonadism, Premature ovarian insufficiency, Elevated circulati... ORPHA:572333
Reticular Dysgenesis
Failure to thrive, Weight loss ORPHA:33355
Cardiomyopathy, Familial Hypertrophic, 4
Myopathy OMIM:115197
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odonto... OMIM:183900
Epilepsy, Familial Adult Myoclonic, 2
Tremor, Ataxia, Blepharospasm, Myoclonus OMIM:607876
46,Xx Sex Reversal 1
True hermaphroditism, Hypospadias, Elevated circulating luteinizing hormone level, Ovotestis, Sex... OMIM:400045
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Thoracic scoliosis, Skeletal muscle atrophy, Knee flexion contracture OMIM:603387
Acquired Generalized Lipodystrophy
Myopathy, Calf muscle pseudohypertrophy ORPHA:79086
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Inability to walk, Unsteady gait, Obesi... OMIM:618443
Immunodeficiency 22
Abscess, Anemia, Decreased circulating total IgM, Decreased circulating IgE, Decreased proportion... OMIM:615758
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Hypogonadism, Male
Male hypogonadism, Micropenis, Testicular atrophy, Hypospadias OMIM:241100
Ovarian Dysgenesis 3
Female infertility, Elevated circulating luteinizing hormone level, Primary amenorrhea, Elevated ... OMIM:614324
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Large for gestational age OMIM:618272
Takayasu Arteritis
Pulmonary arterial hypertension, Arthritis, Abnormal pattern of respiration, Weight loss ORPHA:3287
Immunodeficiency, Common Variable, 10
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level OMIM:615577
Congenital Myopathy 17
Diaphragmatic eventration, Distal arthrogryposis, Myopathy OMIM:618975
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Ataxia ORPHA:324737
Epilepsy, Early-Onset, 1, Vitamin B6-Dependent
Hypertonia, Myoclonus OMIM:617290
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... ORPHA:436159
Spondylometaphyseal Dysplasia, Algerian Type
Lumbar hyperlordosis, Kyphoscoliosis, Genu valgum, Platyspondyly, Carpal bone hypoplasia OMIM:184253
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Short neck ORPHA:2522
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Hypoparathyroidism, Aplasia of the thymus, Decreased response to growth hormone stimulation test,... OMIM:618223
Kufor-Rakeb Syndrome
Eyelid apraxia, Parkinsonism, Rigidity, Babinski sign, Abnormal pyramidal sign, Blepharospasm, Br... ORPHA:306674
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Scoliosis OMIM:619797
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Bulbar palsy, Rigidity, Kyphosis, Contractures of the large joints,... ORPHA:521426
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Inability to walk, Unsteady gait, Elbow flexion contracture, Obesity, ... OMIM:618493
Spondyloepiphyseal Dysplasia Congenita
Waddling gait, Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal... ORPHA:94068
Clark-Baraitser syndrome
Kyphosis, Obesity, Scoliosis OMIM:300602
Developmental Malformations-Deafness-Dystonia Syndrome
Macroglossia, Kyphosis, Scoliosis ORPHA:79107
Gitelman Syndrome
Ataxia, Paralysis, Generalized muscle weakness, Rhabdomyolysis, Muscle weakness OMIM:263800
Mitochondrial Complex Ii Deficiency, Nuclear Type 3
Optic disc pallor, Ataxia, Left ventricular noncompaction, Myoclonus, Dystonia, Left ventricular ... OMIM:619167
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy
Defective T cell proliferation, Increased circulating IgG level, Decreased T cell activation, Inc... OMIM:618213
Porphyria, Acute Intermittent
Respiratory paralysis, Muscle weakness, Paralysis OMIM:176000
Erythrokeratodermia Variabilis
Weight loss ORPHA:317
Proteus Syndrome
Decreased muscle mass, Cachexia, Pulmonary embolism, Joint stiffness, Kyphosis, Craniosynostosis,... ORPHA:744
Felty Syndrome
Sinusitis, Abnormal joint morphology, Limitation of joint mobility, Recurrent pneumonia, Osteolys... ORPHA:47612
Branchial Myoclonus With Spastic Paraparesis And Cerebellar Ataxia
Palatal tremor, Truncal ataxia, Spastic paraparesis OMIM:113610
Multiple Endocrine Neoplasia, Type Iib
Myopathy, Pheochromocytoma, Ganglioneuroma, Failure to thrive in infancy OMIM:162300
C3 Glomerulopathy
Paraproteinemia, Decreased circulating complement C3 concentration, Decreased circulating complem... ORPHA:329918
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Limb joint contracture, Short stature, Ataxia, Postural tremor, Flexion ... OMIM:301072
Pituitary Gigantism
Frontal bossing, Elevated circulating growth hormone concentration, Amenorrhea, Hyperhidrosis, In... ORPHA:99725
Encephalopathy, Neonatal Severe, Due To Mecp2 Mutations
Rigidity, Failure to thrive, Myoclonus OMIM:300673
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Spastic tetraplegia, Platyspondyly, Inappro... OMIM:618476
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis, Hypoplastic ... ORPHA:628
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Obesity, Scoliosis, Short neck ORPHA:3191
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Abnormal myelination, Camptodactyly OMIM:617333
Pituitary Adenoma 1, Multiple Types
Elevated circulating growth hormone concentration, Pituitary adenoma, Irregular menstruation, Inc... OMIM:102200
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Ulnar deviation of the wrist, Interphalangeal joint contracture of finger, Diastasis recti, Short... ORPHA:96334
Aicardi-Goutieres Syndrome 9
Spastic tetraparesis, Spastic tetraplegia, Spastic diplegia, Weight loss, Lower limb hypertonia, ... OMIM:619487
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Poor head control, Ataxia, Ragged-red muscle fibers, Babinski sign, Tong... OMIM:252010
Alveolar Echinococcosis
Low back pain, Ataxia, Dyspnea, Abnormal skeletal muscle morphology, Weight loss, Cough, Abnormal... ORPHA:284
Wolfram Syndrome
Myopathy, Ataxia, Delayed puberty ORPHA:3463
Pfapa Syndrome
Arthritis, Weight loss ORPHA:42642
Fibrous Dysplasia Of Bone
Hyperthyroidism, Precocious puberty in females, Diabetes mellitus, Elevated circulating growth ho... ORPHA:249
Mitochondrial Complex I Deficiency, Nuclear Type 18
Optic disc pallor, Hypertonia, Myoclonus OMIM:618240
Pyridoxal Phosphate-Responsive Seizures
Unsteady gait, Hypertonia, Myoclonus ORPHA:79096
Developmental And Epileptic Encephalopathy 89
Flexion contracture, Hypertonia, Hyperkinetic movements, Tetraparesis, Dystonia, Spasticity OMIM:619124
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome
Inability to walk, Myoclonus ORPHA:411986
Leopard Syndrome 1
Scapular winging, Limited elbow movement, Kyphoscoliosis, Short neck, Cubitus valgus, Spina bifid... OMIM:151100
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Ataxia, Dysdiadochokinesis, Peripheral hypomyelination, Chronic axonal neuropathy, Intention tremor OMIM:612780
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections
Increased circulating IgE level, Spinal canal stenosis, Decreased circulating IgA level OMIM:618282
Liposarcoma
Paresthesia, Weight loss ORPHA:69078
Goodpasture Syndrome
Crackles, Increased DLCO, Tachypnea, Weight loss, Restrictive ventilatory defect, Cough, Exertion... OMIM:233450
Mitochondrial Dna Depletion Syndrome 20 (Mngie Type)
Involuntary movements, Abnormal pyramidal sign, Myoclonus, Dysmetria OMIM:619780
Distal Deletion 12Q
Failure to thrive in infancy, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Elbow flexion... ORPHA:96149
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Hypotonia, Spasticity, Severe muscular hypotonia, Muscular dystrophy OMIM:615287
Hypercalcemia, Infantile, 1
Lethargy, Failure to thrive, Weight loss OMIM:143880
Attrv30M Amyloidosis
Weight loss ORPHA:85447
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Decreased circulating total IgM, Decreased circulating IgA level OMIM:614878
Dyskeratosis Congenita, Digenic
Short stature, Decreased circulating total IgM, Intrauterine growth retardation, Decreased circul... OMIM:620040
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormality of the menstrual cycle, Abnormality of the ... ORPHA:3385
Congenital Disorder Of Glycosylation, Type Ig
Rhizomelia, Decreased circulating total IgM, Decreased circulating IgG level, Butterfly vertebrae... OMIM:607143
Hereditary Amyloidosis With Primary Renal Involvement
Myopathy ORPHA:85450
Basal Cell Nevus Syndrome 1
Vertebral fusion, Kyphoscoliosis, Hemivertebrae, Irregular ossification of hand bones, Vertebral ... OMIM:109400
Split Cord Malformation
Back pain, Abnormal thoracic spine morphology, Low back pain, Kyphoscoliosis, Hyperlordosis, Lowe... ORPHA:573278
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Congenital contracture, Scoliosis, Camptodactyly, Jo... OMIM:248700
Estrogen Resistance Syndrome
Enlarged polycystic ovaries, Increased circulating gonadotropin level, Absence of secondary sex c... ORPHA:785
Alg12-Cdg
Partial absence of specific antibody response to Haemophilus influenzae type b (Hib) vaccine, Abn... ORPHA:79324
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Gait disturbance, Scol... ORPHA:582
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Depression ORPHA:83601
Immunodeficiency 32B
Impaired oxidative burst, Abnormal circulating IgG level OMIM:226990
Oculoauriculovertebral Spectrum With Radial Defects
EMG: myopathic abnormalities, Short stature ORPHA:2549
Follicular Lymphoma
Weight loss ORPHA:545
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Galloway-Mowat Syndrome 10
Delayed CNS myelination, Myoclonus OMIM:619609
Cog1-Cdg
Osteopenia, Irregularity of vertebral bodies, Kyphoscoliosis, Short neck, Flat acetabular roof, V... ORPHA:263508
Primary Intestinal Lymphangiectasia
Decreased circulating antibody level, Growth delay, Decreased circulating total IgM, Decreased ci... ORPHA:90362
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Failure to thrive, Short neck OMIM:608776
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion
Ataxia, Tremor, Delayed myelination, Obesity, Myoclonus ORPHA:98794
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Overweight, Kyphosis, Flexion contracture, Gait disturbance, Scoliosis, Failure to thrive ORPHA:500055
Loeffler Endocarditis
Left ventricular hypertrophy, Dyspnea, Weight loss, Cough ORPHA:75566
Nipah Virus Disease
Tremor, Myoclonus ORPHA:99825
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Ataxia, Camptodactyly of finger, Irregular sclerotic endplates, Action tremor, Tremor... ORPHA:3455
Encephalopathy, Familial, With Neuroserpin Inclusion Bodies
Abnormality of extrapyramidal motor function, Myoclonus OMIM:604218
Juvenile Absence Epilepsy
Myoclonus ORPHA:1941
Niemann-Pick Disease Type C
Axial dystonia, Lower limb spasticity, Speech apraxia, Dystonia, Ataxia, Tremor, Chorea, Aplasia/... ORPHA:646
Non-Functioning Paraganglioma
Pulsatile tinnitus, Tremor, Cranial nerve compression, Vocal cord paralysis, Conductive hearing i... ORPHA:94080
Treacher-Collins Syndrome
Frontal bossing, Thyroid hypoplasia, Hypoplasia of penis, Small scrotum, Failure to thrive, Crypt... ORPHA:861
Hereditary Sensory And Autonomic Neuropathy Type 5
Decreased number of small peripheral myelinated nerve fibers ORPHA:64752
Posttransplant Acute Limbic Encephalitis
Ataxia, Myoclonus, Dystonia ORPHA:163921
Pseudoachondroplasia
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly,... OMIM:177170
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Kyphosis, Abnormal form of the vertebral bodies, Hypertonia, Gait distur... ORPHA:192
Alg1-Cdg
Kyphosis, Scoliosis ORPHA:79327
Congenital Disorder Of Glycosylation, Type Ia
Ataxia, Tremor, Kyphosis, Flexion contracture, Dysmetria, Failure to thrive, Muscle weakness, Int... OMIM:212065
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Mucopolysaccharidosis, Type Ivb
Ataxia, Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Plat... OMIM:253010
46,Xy Sex Reversal 5
Sex reversal, Elevated circulating follicle stimulating hormone level OMIM:613080
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Hyperekplexia 2
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614619
Vici Syndrome
Decreased circulating IgG2 level, Decreased circulating IgG level, Short stature ORPHA:1493
Desbuquois Dysplasia 1
Waddling gait, Hyperlordosis, Short neck, Kyphosis, Obesity, Platyspondyly, Scoliosis OMIM:251450
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Congenital contracture, Congenital muscular dystrophy, Optic atrophy, Optic nerve hypoplasia OMIM:236670
Hyperekplexia 3
Exaggerated startle response, Hypertonia, Myoclonus OMIM:614618
Fatal Familial Insomnia
Apnea, Ataxia, Weight loss OMIM:600072
Cutis Laxa, Autosomal Recessive, Type Iic
Joint laxity, Kyphoscoliosis, Pneumothorax, Knee flexion contracture, Decreased body weight, Camp... OMIM:617402
Immunodeficiency 92
Partial absence of specific antibody response to tetanus vaccine, Decreased circulating IgG level... OMIM:619652
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome
Autoimmune hemolytic anemia, Autoimmune thrombocytopenia, Neutropenia in presence of anti-neutrop... ORPHA:391487
Floating-Harbor Syndrome
Hypospadias, Small for gestational age, Precocious puberty, Cryptorchidism, Cochlear malformation... ORPHA:2044
Acromesomelic Dysplasia 3
Hypergonadotropic hypogonadism, Elevated circulating luteinizing hormone level, Primary amenorrhe... OMIM:609441
Hirschsprung Disease
Failure to thrive in infancy, Weight loss ORPHA:388
Mast Cell Sarcoma
Weight loss ORPHA:66661
X-Linked Agammaglobulinemia
Osteomyelitis, Sinusitis, Recurrent pneumonia, Weight loss, Arthritis, Failure to thrive ORPHA:47
Stromme Syndrome
Myopathy OMIM:243605
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Scoliosis OMIM:615381
Ppoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Abnormality of the t... ORPHA:97278
Congenital Heart Defects And Skeletal Malformations Syndrome
Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly, Failure to thrive OMIM:617602
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Obesity, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Say-Barber-Miller Syndrome
Thoracic kyphoscoliosis, Short stature, Transient hypogammaglobulinemia of infancy, Elbow flexion... ORPHA:3132
Pediatric-Onset Graves Disease
Tremor, Failure to thrive, Hyperkinetic movements ORPHA:525731
Grfoma
Neoplasm of the pancreas, Elevated circulating growth hormone concentration, Neoplasm of the thym... ORPHA:97261
Late Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Spasticity, Cortical myoclonus ORPHA:168491
Hyperekplexia 1
Exaggerated startle response, Hypertonia, Myoclonus, Frequent falls OMIM:149400
Kennedy Disease
Decreased fertility, Testicular atrophy, Type II diabetes mellitus, Erectile dysfunction ORPHA:481
Pseudomyxoma Peritonei
Respiratory insufficiency, Weight loss ORPHA:26790
Isotretinoin-Like Syndrome
Microcephaly, Aplasia/Hypoplasia of the inner ear, Anotia, Microtia, Bilateral sensorineural hear... ORPHA:2306
Alpha-Mannosidosis, Infantile Form
Facial hypotonia, Ataxia, Spastic paraplegia, Clumsiness, Macroglossia, Myopathy ORPHA:309282
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Tremor, Kyphosis, Scoliosis OMIM:617061
Cono-Spondylar Dysplasia
Short neck, Kyphosis, Poor coordination, Scoliosis, Failure to thrive ORPHA:420794
Multiple Endocrine Neoplasia Type 2
Joint laxity, Hyperlordosis, Kyphoscoliosis, Proximal amyotrophy ORPHA:653
Lysosomal Acid Lipase Deficiency
Failure to thrive, Cachexia, Weight loss ORPHA:275761
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Pituitary corticotropic cell adenoma, Fasting hyperinsulinemia, Elevated cir... ORPHA:276152
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Decreased lymphocyte proliferation in response to anti-CD3, Hyperlordosis, Decreased circulating ... ORPHA:221139
8P23.1 Microdeletion Syndrome
Weight loss, Obesity, Congenital diaphragmatic hernia, Short neck ORPHA:251071
Erdheim-Chester Disease
Increased bone mineral density, Osteomyelitis, Ataxia, Dyspnea, Bone pain, Osteolysis, Weight los... ORPHA:35687
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Scoliosis ORPHA:261144
Immunodeficiency 97 With Autoinflammation
Decreased circulating total IgM, Decreased circulating IgG level, Decreased circulating IgA level... OMIM:619802
Multiple Endocrine Neoplasia Type 1
Pituitary corticotropic cell adenoma, Pancreatic endocrine tumor, Pituitary gonadotropic cell ade... ORPHA:652
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... OMIM:265000
Juvenile Sialidosis Type 2
Lower limb spasticity, Ataxia, Dysmetria, Myoclonus, Loss of ambulation, Spasticity ORPHA:93399
Insulin-Resistance Syndrome Type B
Increased circulating IgG level, Decreased circulating complement factor B concentration, Increas... ORPHA:2298
Lynch Syndrome
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Ga... ORPHA:144
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis OMIM:615433
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Short stature, Flexion contracture, Myopathy, Gait disturbance ORPHA:3042
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2
Generalized dystonia, Ataxia, Chorea, Spastic tetraplegia, Gait ataxia, Myoclonus, Dystonia, Left... OMIM:618321
Gaucher Disease Type 1
Kyphosis, Growth delay, Increased circulating antibody level, Delayed puberty, Vertebral compress... ORPHA:77259
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Steinert Myotonic Dystrophy
Neck flexor weakness, Decreased response to growth hormone stimulation test, Non-medullary thyroi... ORPHA:273
Orofaciodigital Syndrome Type 2
Tachypnea, Apnea ORPHA:2751
Gm1-Gangliosidosis, Type I
Short neck, Kyphosis, Hypoplastic vertebral bodies, Hypertonia, Scoliosis, Beaking of vertebral b... OMIM:230500
Inflammatory Bowel Disease 11
Weight loss OMIM:191390
Intellectual Developmental Disorder, Autosomal Dominant 45
Chorea, Cerebral palsy, Slender build, Myoclonus OMIM:617600
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Short stature, Ataxia, Inability to walk, Vocal cord paralysis, Growth del... OMIM:617799
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... OMIM:607015
Calcific Aortic Disease With Immunologic Abnormalities, Familial
Increased circulating antibody level OMIM:114065
Rothmund-Thomson Syndrome, Type 2
Osteoporosis, Congenital hip dislocation, Small for gestational age, Kyphoscoliosis OMIM:268400
Primary Sclerosing Cholangitis
Generalized amyotrophy, Polyclonal elevation of IgM ORPHA:171
Bohring-Opitz Syndrome
Failure to thrive, Flexion contracture, Delayed peripheral myelination, Camptodactyly OMIM:605039
Yao Syndrome
Arthritis, Asthma, Weight loss OMIM:617321
Generalized Pseudohypoaldosteronism Type 1
Osteomyelitis, Failure to thrive in infancy, Wheezing, Weight loss, Cough ORPHA:171876
Inflammatory Bowel Disease (Crohn Disease) 1
Weight loss OMIM:266600
Cystic Echinococcosis
Abnormality of the vertebral column, Abnormality of the diaphragm, Weight loss ORPHA:400
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Obesity, Thoracolumbar kyphosis, Cervical ... ORPHA:15
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Kyphosis, Scoliosis, Limb hypertonia OMIM:617190
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Kyphosis, Gait disturbance, Scolios... ORPHA:261349
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Vici Syndrome
Decreased circulating IgG level, Decreased circulating IgG2 level, Decreased T cell activation, L... OMIM:242840
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:2655
Encephalitis Lethargica
Upper limb muscle weakness, Increased circulating antibody level ORPHA:83600
Neuroblastoma, Susceptibility To, 1
Failure to thrive, Ataxia, Myoclonus, Weight loss OMIM:256700
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Episodic flaccid weakness, Periodic hypokale... ORPHA:37553
Immunodeficiency, Common Variable, 8, With Autoimmunity
Growth delay, Decreased circulating total IgM, Decreased specific antibody response to vaccinatio... OMIM:614700
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Impaired social interactions, Scoliosis, Spasticity, Apraxia OMIM:613454
Tularemia
Increased circulating antibody level ORPHA:3392
Familial Colorectal Cancer Type X
Hemiplegia/hemiparesis, Flexion contracture, Abnormal pyramidal sign, Weight loss, Hypertonia, Ga... ORPHA:440437
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Riddle Syndrome
Ataxia, Pneumonia, Neonatal asphyxia, Recurrent pneumonia, Weight loss, Restrictive ventilatory d... ORPHA:420741
Dyggve-Melchior-Clausen Disease
Waddling gait, Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Pl... OMIM:223800
Netherton Syndrome
Increased circulating IgE level, Short stature, Decreased circulating antibody level ORPHA:634
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Brucellosis
Increased circulating IgG level, Sacroiliac arthritis, Increased circulating IgM level ORPHA:1304
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Optic disc pallor, Multiple joint contractures, Optic nerve hypoplasia, Ankle flexion contracture... ORPHA:468631
Severe Combined Immunodeficiency Due To Dclre1C Deficiency
Decreased circulating IgG level, Decreased circulating IgA level ORPHA:275
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency
Absent specific antibody response, Increased circulating IgE level, Decreased circulating total I... OMIM:102700
Testicular Agenesis
Abnormal vas deferens morphology, Urethrovaginal fistula, Absent external genitalia, Increased ci... ORPHA:325124
Seckel Syndrome 10
Acute pancreatitis, Diabetes mellitus, Elevated circulating luteinizing hormone level, Microcepha... OMIM:617253
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Spasticity
Appendicular spasticity, Optic atrophy, Myoclonus, Dystonia OMIM:617669
Epilepsy, Progressive Myoclonic, 10
Spastic ataxia, Ataxia, Spastic tetraplegia, Progressive cerebellar ataxia, Myoclonus, Spasticity OMIM:616640
3Q27.3 Microdeletion Syndrome
Kyphoscoliosis ORPHA:397695
Trichothiodystrophy 3, Photosensitive
Intrauterine growth retardation, Short stature, Increased circulating IgA level OMIM:616395
Parkinson Disease 4, Autosomal Dominant
Parkinsonism, Weight loss OMIM:605543
Hypermobile Ehlers-Danlos Syndrome
Abnormality of the menstrual cycle, Decreased nerve conduction velocity, Vertigo, Cystocele, Decr... ORPHA:285
Autoimmune Pulmonary Alveolar Proteinosis
Crackles, Dyspnea, Weight loss, Hypoxemia, Restrictive ventilatory defect, Cough, Decreased DLCO ORPHA:747
Bloom Syndrome
Postnatal growth retardation, Growth delay, Decreased circulating total IgM, Intrauterine growth ... OMIM:210900
Truncus Arteriosus
Patent ductus arteriosus, Tachypnea, Right ventricular hypertrophy ORPHA:3384
Netherton Syndrome
Decreased circulating IgG level, Increased circulating IgE level OMIM:256500
Combined Oxidative Phosphorylation Deficiency 57
Small for gestational age, Myoclonus, Dystonia OMIM:620167
Female Restricted Epilepsy With Intellectual Disability
Abnormal social behavior ORPHA:101039
Immunodeficiency 67
Increased circulating IgE level OMIM:607676
Autosomal Recessive Hyperinsulinism Due To Kir6.2 Deficiency
Elevated circulating growth hormone concentration, Large for gestational age, Multiple pancreatic... ORPHA:79644
Glossopharyngeal Neuralgia
Dysesthesia, Vocal cord paralysis, Abnormality of the cervical spine, Weight loss ORPHA:221098
Developmental And Epileptic Encephalopathy 49
Exaggerated startle response, Facial-lingual fasciculations, Optic atrophy, Spastic tetraplegia, ... OMIM:617281
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Inflammatory Skin And Bowel Disease, Neonatal, 1
Increased circulating IgE level OMIM:614328
Igg4-Related Kidney Disease
Increased circulating IgG4 level, Increased circulating IgE level, Increased circulating IgG leve... ORPHA:449395
Leishmaniasis
Increased circulating antibody level ORPHA:507
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Small for gestational age, Kyphosis, Hypotrophy of the small han... OMIM:610443
Brain-Lung-Thyroid Syndrome
Incoordination, Short stature, Ataxia, Involuntary movements, Chorea, Clumsiness, Growth delay, C... ORPHA:209905
Prader-Willi Syndrome
Decreased muscle mass, Failure to thrive in infancy, Impaired pain sensation, Kyphosis, Poor gros... OMIM:176270
Encephalocraniocutaneous Lipomatosis
Paralysis, Rigidity, Tetraplegia, Hemiparesis, Hypertonia, Hemiplegia, Spasticity ORPHA:2396
Otopalatodigital Syndrome, Type Ii
Congenital hip dislocation, Elbow contracture, Kyphoscoliosis, Short neck, Delayed closure of the... OMIM:304120
Somatostatinoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97283
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, T lymphocytopenia, Microcytic anemia ORPHA:2959
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis, Pulsatile tinnitus OMIM:605373
Somatomammotropinoma
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... ORPHA:314769
Distal Triplication 15Q
Large for gestational age, Kyphosis, Flexion contracture, Scoliosis, Camptodactyly ORPHA:314588
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... OMIM:300966
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Lumbar hyperlordosis, Failure to thrive in infancy, Kyphoscoliosis, Sagittal craniosynostosis, Pa... ORPHA:500150
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Myopathy OMIM:261740
Autosomal Dominant Epidermolytic Ichthyosis
Weight loss ORPHA:312
Poems Syndrome
Respiratory insufficiency due to muscle weakness, Weight loss, Paresthesia, Hyperesthesia, Sclero... ORPHA:2905
Robinow Syndrome
Fused thoracic vertebrae, Small for gestational age, Kyphoscoliosis, Hemivertebrae, Scoliosis ORPHA:97360
Waldenström Macroglobulinemia
Cryoglobulinemia, Monoclonal immunoglobulin M proteinemia ORPHA:33226
Malignant Peritoneal Mesothelioma
Dyspnea, Weight loss ORPHA:168811
Giant Cell Arteritis
Ataxia, Epistaxis, Joint stiffness, Weight loss, Arthritis, Cough ORPHA:397
Distal 16P11.2 Microdeletion Syndrome
Kyphosis, Obesity ORPHA:261222
Harrod Syndrome
Kyphosis, Failure to thrive, Scoliosis ORPHA:2115
Subcorneal Pustular Dermatosis
Increased circulating antibody level ORPHA:48377
Lambert-Eaton Myasthenic Syndrome
Progressive proximal muscle weakness ORPHA:43393
Trisomy 20P
Incoordination, Camptodactyly of finger, Short neck, Kyphosis, Abnormal form of the vertebral bod... ORPHA:261318
Hemochromatosis, Type 1
Diabetes mellitus, Hypogonadotropic hypogonadism, Azoospermia, Impotence, Testicular atrophy, Ame... OMIM:235200
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Short neck, Kyphosis, Scoliosis, Biconcave vertebral bodies OMIM:130720
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Scol... ORPHA:2215
Sudden Infant Death-Dysgenesis Of The Testes Syndrome
Growth delay, Myoclonus ORPHA:168593
D-Glyceric Aciduria
Chorea, Myoclonus, Spasticity ORPHA:941
Mgat2-Cdg
Kyphosis, Decreased circulating antibody level, Scoliosis, Decreased lymphocyte proliferation in ... ORPHA:79329
Cockayne Syndrome Type 3
Optic disc pallor, Peripheral axonal neuropathy, Progressive microcephaly, Adult onset sensorineu... ORPHA:90324
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Dysmetria, Knee flexion contracture, Intention tremor OMIM:619708
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Spasticity, Failure to thrive, Muscle weakness OMIM:124000
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Joint laxity, Sacral dimple, Joint dislocation, Small for gestational age, C... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Joint laxity, Sacral dimple, Joint dislocation, Small for gestational age, C... ORPHA:363958
Wiskott-Aldrich Syndrome
Impaired lymphocyte transformation with phytohemagglutinin, Autoimmune hemolytic anemia, Absent m... OMIM:301000
Bronchial Neuroendocrine Tumor
Pneumonia, Dyspnea, Nonproductive cough, Asthma, Wheezing, Weight loss, Bronchospasm ORPHA:97287
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly ORPHA:93274
Igg4-Related Thyroid Disease
Increased circulating IgG4 level ORPHA:64744
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Lower limb dysmetria, Kyphoscoliosis, Hyperlordosis, Genu valgum, Scoliosis, Joint hyp... ORPHA:363700
Neutropenia, Severe Congenital, 4, Autosomal Recessive
Myopathy, Patent ductus arteriosus OMIM:612541
Juvenile Polyposis Of Infancy
Patent ductus arteriosus, Cachexia ORPHA:79076
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Multiple Endocrine Neoplasia, Type I
Pancreatic islet cell adenoma, Elevated circulating growth hormone concentration, Pituitary adeno... OMIM:131100
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Kyphoscoliosis, Short neck, Delayed skeletal maturation, Obesity, Genu valgum, Macroglossia, Lowe... OMIM:309580
Acute Monoblastic/Monocytic Leukemia
Weight loss, Ankle swelling, Exertional dyspnea ORPHA:514
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
Isolated Permanent Neonatal Diabetes Mellitus
Prominent metopic ridge, Ataxia, Weight loss, Lower-limb joint contracture, Arthrogryposis multip... ORPHA:99885
Restrictive Dermopathy 1
Limb joint contracture, Kyphoscoliosis, Ankylosis, Patent ductus arteriosus, Flexion contracture,... OMIM:275210
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Failure to thrive, Ataxia, Myoclonus OMIM:560000
Pheochromocytoma/Paraganglioma Syndrome 1
Conductive hearing impairment, Vocal cord paralysis, Pulsatile tinnitus OMIM:168000
Weaver Syndrome
Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hypertonia, Scoliosis, C... OMIM:277590
Microform Holoprosencephaly
Intrauterine growth retardation, EMG: myopathic abnormalities, Short stature ORPHA:280200
Paget Disease Of Bone 2, Early-Onset
Sandwich appearance of vertebral bodies, Vertebral compression fracture, Paraparesis, Tetraparesis OMIM:602080
Fountain Syndrome
Kyphosis, Spina bifida occulta, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3219
Intellectual Developmental Disorder, Autosomal Dominant 42
Dystonia, Cerebral palsy, Delayed myelination, Myoclonus, Limb dystonia, Hemiplegia, Failure to t... OMIM:616973
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Tip-toe gait, Scol... OMIM:618050
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Gait ataxia, Scoliosis, Failure to thrive ORPHA:476126
Acromegaly
Frontal bossing, Diabetes mellitus, Hypogonadotropic hypogonadism, Dysmenorrhea, Elevated circula... ORPHA:963
Noonan Syndrome 1
Failure to thrive in infancy, Kyphoscoliosis, Short neck, Patent ductus arteriosus, Synovitis, Ch... OMIM:163950
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Angelman Syndrome
Optic disc pallor, Ataxia, Cerebral dysmyelination, Tremor, Optic atrophy, Obesity, Myoclonus ORPHA:72
Singleton-Merten Syndrome 1
Waddling gait, Osteopenia, Hip subluxation, Osteoporosis, Hip dislocation, Osteolytic defects of ... OMIM:182250
Chromosome Xq26.3 Duplication Syndrome
Elevated circulating growth hormone concentration, Pituitary adenoma, Hyperhidrosis, Increased ci... OMIM:300942
Bullous Pemphigoid
Weight loss ORPHA:703
Cap Polyposis
Weight loss ORPHA:160148
Systemic Capillary Leak Syndrome
Cardiorespiratory arrest, Weight loss, Cough, Pleural effusion, Rhinorrhea ORPHA:188
Zollinger-Ellison Syndrome
Increased urinary cortisol level, Hyperparathyroidism, Pituitary null cell adenoma, Elevated circ... ORPHA:913
Magel2-Related Prader-Willi-Like Syndrome
Impaired temperature sensation, Kyphosis, Flexion contracture, Increased body weight, Abdominal o... ORPHA:398069
Hypotrichosis Simplex Of The Scalp
Increased circulating IgE level ORPHA:90368
Rat-Bite Fever
Back pain, Oligoarthritis, Tendonitis, Weight loss, Arthritis, Septic arthritis ORPHA:31205
Mitochondrial Dna Depletion Syndrome 19
Spasticity, Myoclonus, Tetraparesis OMIM:618972
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:2479
Hyperimmunoglobulinemia D With Periodic Fever
Growth delay, Increased circulating IgA level ORPHA:343
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Hypotonia, Hypertonia, Myoclonus, Generalized hypotonia, Tetraparesis OMIM:203700
Crimean-Congo Hemorrhagic Fever
Increased circulating IgG level, Increased circulating IgM level ORPHA:99827
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Kyphosis, Scoliosis, Hyperlordosis OMIM:617821
Glucagonoma
Neoplasm of the pancreas, Diabetes mellitus, Elevated circulating growth hormone concentration, A... ORPHA:97280
Tropical Endomyocardial Fibrosis
Orthopnea, Cachexia, Dyspnea, Myocardial calcification, Pulmonary venous hypertension ORPHA:75565
Benign Recurrent Intrahepatic Cholestasis
Weight loss ORPHA:65682
Osteopetrosis, Autosomal Recessive 7
Growth delay, Decreased circulating total IgM, Decreased circulating IgG level, Decreased circula... OMIM:612301
Peritoneal Cystic Mesothelioma
Weight loss ORPHA:168816
Immunodeficiency 98 With Autoinflammation, X-Linked
Growth delay, Decreased circulating IgG level, Bone marrow hypocellularity OMIM:301078
Aspergillosis
Abnormality of the vertebral column, Increased circulating IgE level ORPHA:1163
Immunodeficiency 31C
Osteopenia, Skeletal muscle atrophy, Osteomyelitis, Bronchiectasis, Weight loss, Cough OMIM:614162
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
Den Hoed-De Boer-Voisin Syndrome
Lower limb spasticity, Ataxia, Tremor, Overweight, Obesity, Upper limb spasticity, Myoclonus, Dec... OMIM:619229
Lead Poisoning
Abnormality of humoral immunity, Increased circulating IgE level, Distal muscle weakness, Delayed... ORPHA:330015
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Yellow Fever
Increased circulating IgM level, Increased circulating interleukin 6 concentration, Low back pain ORPHA:99829
Congenital Enterocyte Heparan Sulfate Deficiency
Weight loss ORPHA:103910
Williams-Beuren Syndrome
Osteopenia, Joint laxity, Failure to thrive in infancy, Kyphoscoliosis, Flexion contracture, Oste... OMIM:194050
Epilepsy, Progressive Myoclonic, 4, With Or Without Renal Failure
Postural tremor, Action tremor, Unsteady gait, Gait ataxia, Myoclonus, Intention tremor OMIM:254900
Autosomal Dominant Hyper-Ige Syndrome
Increased circulating IgE level, Scoliosis ORPHA:2314
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Bloom Syndrome
Decreased circulating antibody level, Growth delay, Severe postnatal growth retardation, Decrease... ORPHA:125
Thymic Neuroendocrine Tumor
Osteopenia, Weight loss, Abnormal breath sound, Cough ORPHA:97289
Kaposi Sarcoma
Weight loss ORPHA:33276
Cysticercosis
Calcification of muscles, Abnormality of the vertebral column, Increased circulating antibody lev... ORPHA:1560
Trichothiodystrophy 1, Photosensitive
Flexion contracture, Decreased circulating IgG level, Short stature OMIM:601675
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic hypokalemic paresis, Periodic paralysis, Depression OMIM:170390
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Delayed myelination, Myoclonus ORPHA:314655
Fabry Disease
Left ventricular hypertrophy, Fasciculations, Delayed puberty OMIM:301500
Immunodeficiency 82 With Systemic Inflammation
Decreased proportion of naive T cells, Follicular hyperplasia, Splenomegaly, Lymphadenopathy, Dec... OMIM:619381
Multiple Endocrine Neoplasia, Type Iv
Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo... OMIM:610755
Nijmegen Breakage Syndrome
Autoimmune hemolytic anemia, Dysgammaglobulinemia, T lymphocytopenia, B lymphocytopenia, Thromboc... OMIM:251260
Aggressive Systemic Mastocytosis
Bone pain, Osteolysis, Osteoporosis, Weight loss, Pathologic fracture ORPHA:98850
Acute Promyelocytic Leukemia
Epistaxis, Productive cough, Bone pain, Weight loss, Exertional dyspnea ORPHA:520
Turner Syndrome Due To Structural X Chromosome Anomalies
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99413
Mosaic Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99228
Monosomy X
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:99226
Spondyloepimetaphyseal Dysplasia, Krakow Type
Decreased circulating total IgM, Rhizomelia, Elbow contracture, Knee flexion contracture OMIM:618162
Turner Syndrome
Premature ovarian insufficiency, Failure to thrive in infancy, High urinary gonadotropin level, F... ORPHA:881
Pycnodysostosis
Hyperlordosis, Overweight, Kyphosis, Spondylolysis, Scoliosis, Upper motor neuron dysfunction, Sp... ORPHA:763
Selective Igm Deficiency
Paraproteinemia, Growth delay, Decreased circulating total IgM, Decreased specific antibody respo... ORPHA:331235
Carney Complex
Increased body weight, Thyroid carcinoma, Papillary thyroid carcinoma, Leydig cell neoplasia, Ova... ORPHA:1359
Incontinentia Pigmenti
Hemivertebrae, Kyphoscoliosis OMIM:308300
Sialuria
Hyperkinetic movements ORPHA:3166
Deafness-Lymphedema-Leukemia Syndrome
Respiratory failure, Weight loss ORPHA:3226
Ovarian Hyperstimulation Syndrome
Hemorrhagic ovarian cyst, Enlarged polycystic ovaries, Increased circulating gonadotropin level, ... ORPHA:64739
Viss Syndrome
Short stature, Kyphosis, Increased circulating IgE level, Macroglossia, Increased circulating IgG... OMIM:619472
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... OMIM:607014
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Failure to thrive, Muscle weakness OMIM:239000
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Scoliosis ORPHA:2789
Immunodeficiency 47
Decreased circulating total IgG, Decreased circulating antibody level, Decreased circulating tota... OMIM:300972
Iga Pemphigus
Monoclonal elevation of circulating IgA, Increased circulating IgA level ORPHA:555905
Prolidase Deficiency
Increased circulating antibody level OMIM:170100
Polyarteritis Nodosa
Weight loss ORPHA:767
Trisomy 13
Kyphosis, Scoliosis ORPHA:3378
Liver Failure, Infantile, Transient
Decreased circulating IgG level OMIM:613070
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Failure to thrive, Small for gestational age, Ankle flexion contracture, Kyphosis, Gait disturban... ORPHA:464311
Legius Syndrome
Neurofibroma, Ovarian neoplasm, Vestibular schwannoma, Male urethral meatus stenosis, Macrocephal... ORPHA:137605
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Macroorchidism, Decreased serum insulin-like growth factor 1, Elevated circulating growth hormone... ORPHA:85327
Cystinosis, Nephropathic
Skeletal muscle atrophy, Short stature, Growth delay, Myopathy, Delayed puberty OMIM:219800
Early-Onset Lafora Body Disease
Ataxia, Myoclonus, Spastic tetraparesis ORPHA:324290
Wolf-Hirschhorn Syndrome
Sacral dimple, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Abnormal form of the vertebral ... ORPHA:280
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Vertebral segmentation defect, Scoliosis, Overfriendliness ORPHA:96169
Okur-Chung Neurodevelopmental Syndrome
Decreased circulating IgG level, Scoliosis, Decreased circulating IgA level, Decreased circulatin... OMIM:617062
3C Syndrome
Kyphosis, Hemivertebrae, Scoliosis, Short neck ORPHA:7
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2050
Trichinellosis
Ophthalmoplegia, Increased circulating IgE level, Facial palsy, Muscle weakness ORPHA:863
Igg4-Related Ophthalmic Disease
Abnormality of the extraocular muscles, Increased circulating IgE level, Increased circulating Ig... ORPHA:449563
Early Infantile Epileptic Encephalopathy
Tremor, Delayed myelination, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Spasticity, F... ORPHA:1934
Celiac Disease, Susceptibility To, 1
Ataxia, Rickets, Osteoporosis, Weight loss, Failure to thrive OMIM:212750
Dubowitz Syndrome
Sacral dimple, Short stature, Postnatal growth retardation, Intrauterine growth retardation, Decr... OMIM:223370
Hyperphosphatasia-Intellectual Disability Syndrome
Ataxia, Growth delay, Gait disturbance, Myoclonus, Oculomotor apraxia ORPHA:247262
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
X-Linked Intellectual Disability With Isolated Growth Hormone Deficiency
Oculomotor apraxia, Abnormal myelination ORPHA:67045
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Camptodactyly of finger, Scoliosis OMIM:619951
Osteootohepatoenteric Syndrome
Recurrent fractures, Avascular necrosis of the capital femoral epiphysis, Asthma, Reduced bone mi... OMIM:619377
Al Amyloidosis
Dyspnea, Nonproductive cough, Macroglossia, Weight loss ORPHA:85443
Mucopolysaccharidosis, Type Ii
Macroglossia, Kyphosis, Flexion contracture, Short neck OMIM:309900
Bone Marrow Failure Syndrome 5
Hypogonadism, Testicular atrophy, Microcephaly OMIM:618165
Developmental And Epileptic Encephalopathy 100
Delayed CNS myelination, Chorea, Bilateral camptodactyly, Elbow flexion contracture, Gait ataxia,... OMIM:619777
Pemphigus Vulgaris
Weight loss ORPHA:704
Inflammatory Pseudotumor Of The Liver
Increased hepatitis B virus antibody level ORPHA:90003
Cowden Syndrome 5
Kyphosis, Scoliosis, Intention tremor OMIM:615108
Eosinophilic Gastroenteritis
Asthma, Allergic rhinitis, Weight loss ORPHA:2070
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Scoliosis ORPHA:404440
Floating-Harbor Syndrome
Joint laxity, Prominent metopic ridge, Ivory epiphyses of the distal phalanges of the hand, Kypho... OMIM:136140
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Acquired Central Diabetes Insipidus
Weight loss ORPHA:95626
Hereditary Sensory And Autonomic Neuropathy Type 4
Anhidrosis, Pain insensitivity, Orthostatic hypotension due to autonomic dysfunction, Somatic sen... ORPHA:642
Adrenocortical Carcinoma
Increased body weight, Muscle weakness, Weight loss ORPHA:1501
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Small for gestational age, Kyphosis, Gait disturbance, Scoliosis, Fa... ORPHA:464306
1P36 Deletion Syndrome
Short stature, Camptodactyly of finger, Hemiplegia/hemiparesis, Myopathy, Gait disturbance ORPHA:1606
Malignant Atrophic Papulosis
Muscle flaccidity, Pain insensitivity, Weight loss ORPHA:679
Reactive Arthritis
Osteomyelitis, Joint stiffness, Respiratory insufficiency, Enthesitis, Weight loss, Arthritis, Jo... ORPHA:29207
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Scoliosis OMIM:616449
Nephroblastoma
Weight loss ORPHA:654
Congenital Sialidosis Type 2
Spasticity, Ataxia, Myoclonus, Dysmetria ORPHA:93400
Noonan Syndrome 14
Kyphosis, Scapular winging, Short neck OMIM:619745
Williams Syndrome
Osteopenia, Tremor, Dysmetria, Abnormal form of the vertebral bodies, Vertebral segmentation defe... ORPHA:904
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
Micro Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2510
Aicardi-Goutieres Syndrome 7
Lower limb spasticity, Poor head control, Spastic tetraparesis, Tetraplegia, Weight loss, Hyperto... OMIM:615846
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis ORPHA:1860
Pallister-Killian Syndrome
Sacral dimple, Congenital hip dislocation, Congenital diaphragmatic hernia, Short neck, Kyphoscol... OMIM:601803
Congenital Tufting Enteropathy
Arthritis, Failure to thrive, Weight loss ORPHA:92050
Microphthalmia, Lenz Type
Kyphosis, Camptodactyly of finger, Scoliosis, Hyperlordosis ORPHA:568
Prader-Willi Syndrome Due To Translocation
Respiratory distress, Short neck, Patent ductus arteriosus, Obesity, Scoliosis, Impaired social i... ORPHA:177907
Oculodentodigital Dysplasia
Ataxia, Paraparesis, Joint contracture of the 5th finger, Tetraparesis, Spasticity OMIM:164200
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Joint stiffness OMIM:618820
Monosomy 9Q22.3
Rhabdomyosarcoma, Large for gestational age, Short neck, Kyphosis, Abnormality of the vertebral c... ORPHA:77301
Cowden Syndrome 6
Kyphosis, Scoliosis, Intention tremor OMIM:615109
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Unsteady gait, Abnormal pyramidal sign, Dysmetria, Positive Romberg sign, Nonprogressive ... ORPHA:314647
Aapoaiv Amyloidosis
Back pain, Paraproteinemia ORPHA:439232
Secondary Short Bowel Syndrome
Failure to thrive, Weight loss ORPHA:95427
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:276621
Mitochondrial Complex Iv Deficiency, Nuclear Type 12
Small for gestational age, Clonus, Spastic tetraplegia, Myoclonus, Failure to thrive OMIM:619055
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Inability to walk, Difficulty walking, Scoliosis, Spasticity, Contracture of the proxim... ORPHA:464738
Pigmented Nodular Adrenocortical Disease, Primary, 2
Kyphosis, Truncal obesity OMIM:610475
Pituitary Adenoma 2, Growth Hormone-Secreting
Pituitary adenoma, Elevated circulating growth hormone concentration OMIM:300943
Familial Hyperthyroidism Due To Mutations In Tsh Receptor
Accelerated skeletal maturation, Small for gestational age, Hand tremor, Weight loss ORPHA:424
Glucose-Galactose Malabsorption
Failure to thrive, Weight loss ORPHA:35710
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Solitary Fibrous Tumor
Low back pain, Weight loss ORPHA:2126
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Decreased number of large peripheral myelinated nerve fibers, Incoordination OMIM:223900
Carney Complex, Type 1
Elevated circulating growth hormone concentration, Pituitary adenoma, Schwannoma, Pheochromocytom... OMIM:160980
Drug Reaction With Eosinophilia And Systemic Symptoms
Dyspnea, Interstitial pneumonitis, Weight loss, Cough ORPHA:139402
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Severe postnatal growth retardation, Decreased circulating total IgM, Intrauterine growth retarda... OMIM:620005
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly OMIM:616294
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Failure to thrive, Delayed peripheral myelination ORPHA:364577
Gitelman Syndrome
Paralysis, Rhabdomyolysis, Gout, Tubulointerstitial nephritis, Hashimoto thyroiditis, Muscle weak... ORPHA:358
Amoebiasis Due To Entamoeba Histolytica
Dyspnea, Weight loss, Pleural empyema, Cough, Pleural effusion ORPHA:67
3-Hydroxy-3-Methylglutaryl-Coa Lyase Deficiency
Spasticity, Myoclonus OMIM:246450
Wild Type Attr Amyloidosis
Weight loss ORPHA:330001
Acanthosis Nigricans-Insulin Resistance-Muscle Cramps-Acral Enlargement Syndrome
Enlarged polycystic ovaries, Insulin-resistant diabetes mellitus, Elevated circulating growth hor... ORPHA:90301
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome
Decreased circulating total IgM, Scoliosis, Decreased circulating IgA level ORPHA:369837
Thrombocytopenia 1
Increased circulating IgE level, Increased circulating IgA level OMIM:313900
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Scoliosis OMIM:619557
Insensitivity To Pain, Congenital, With Anhidrosis
Decreased number of small peripheral myelinated nerve fibers OMIM:256800
Short Syndrome
Joint hyperflexibility, Weight loss ORPHA:3163
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked
Increased circulating IgE level OMIM:304790
Recurrent Infections Associated With Rare Immunoglobulin Isotypes Deficiency
Decreased circulating total IgM, Decreased circulating IgG level, Decreased specific pneumococcal... ORPHA:183675
Dermatomyositis
Respiratory insufficiency, Weight loss, Inflammatory myopathy, Arthritis, Pulmonary arterial hype... ORPHA:221
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige
Growth delay, Increased circulating IgE level OMIM:615508
Medullary Thyroid Carcinoma
Weight loss ORPHA:1332
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Large for gestational age, Hyperlordosis, Kyphosis, Gait ataxia, Scoliosis OMIM:617011
Neurofibroma
Spinal canal stenosis, Kyphoscoliosis ORPHA:252183
Alstrom Syndrome
Kyphosis, Truncal obesity, Scoliosis OMIM:203800
Hutchinson-Gilford Progeria Syndrome
Limitation of movement at ankles, Joint stiffness, Limited wrist movement, Osteoarthritis, Limita... ORPHA:740
Friedreich Ataxia 2
Impaired vibratory sensation, Diabetic ketoacidosis, Ataxia, Abnormality of peripheral nerve cond... OMIM:601992
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation
Increased circulating IgE level, Panhypogammaglobulinemia OMIM:602450
Ménétrier Disease
Weight loss ORPHA:2494
Childhood Absence Epilepsy
Abnormal social behavior, Hyperventilation ORPHA:64280
Cohen Syndrome
Kyphosis, Failure to thrive in infancy, Obesity, Scoliosis ORPHA:193
Spondyloenchondrodysplasia
Kyphosis, Chorea, Platyspondyly, Spasticity ORPHA:1855
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Macro... OMIM:619194
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Kyphosis, Platyspondyly, Lumbar hyperlordosis OMIM:616482
Cowden Syndrome
Ataxia, Kyphosis, Macroglossia, Scoliosis, Failure to thrive ORPHA:201
Gaucher Disease Type 3
Growth delay, Ophthalmoplegia, Increased circulating antibody level, Delayed puberty ORPHA:77261
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Kyphosis, Decreased body weight, Scoliosis, Impaired pain sensation OMIM:619005
Osteogenesis Imperfecta
Somatic sensory dysfunction, Ataxia, Cervical kyphosis, Small for gestational age, Kyphosis, Flex... ORPHA:666
Late-Onset Isolated Acth Deficiency
Failure to thrive, Muscle weakness, Weight loss ORPHA:199299
Marfanoid-Progeroid-Lipodystrophy Syndrome
Kyphosis, Scapular winging OMIM:616914
9P13 Microdeletion Syndrome
Short stature, Myoclonus, Hand tremor ORPHA:324313
Subcutaneous Panniculitis-Like T-Cell Lymphoma
Weight loss ORPHA:86884
Familial Glucocorticoid Deficiency
Failure to thrive, Tetraplegia, Weight loss ORPHA:361
Cowden Syndrome 1
Kyphosis, Scoliosis, Intention tremor OMIM:158350
Dihydropyrimidine Dehydrogenase Deficiency
Inability to walk, Respiratory failure requiring assisted ventilation, Abnormal social behavior, ... ORPHA:1675
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Secondary Intestinal Lymphangiectasia
Decreased circulating total IgM, Decreased circulating IgG1 level, Decreased circulating IgA leve... ORPHA:90363
Tubulointerstitial Nephritis And Uveitis Syndrome
Increased circulating IgG level, Increased circulating antibody level ORPHA:91500
Q Fever
Cryoglobulinemia, Increased circulating antibody level, Muscle weakness ORPHA:781
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Involuntary movements, Optic atrophy, Hypertonia, Myoclonus, Fasciculati... ORPHA:284339
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Nocardiosis
Respiratory distress, Osteomyelitis, Pneumonia, Productive cough, Nonproductive cough, Dyspnea, P... ORPHA:31204
Pmm2-Cdg
Respiratory distress, Osteopenia, Joint laxity, Multiple joint contractures, Ataxia, Kyphoscolios... ORPHA:79318
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome
Postnatal growth retardation, Contracture of the distal interphalangeal joint of the fingers, Cle... ORPHA:83617
Ebola Hemorrhagic Fever
Increased circulating antibody level ORPHA:319218
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:251014
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Pigmented Nodular Adrenocortical Disease, Primary, 1
Kyphosis, Truncal obesity OMIM:610489
Refractory Celiac Disease
Weight loss ORPHA:398063
Paternal Uniparental Disomy Of Chromosome 1
Short stature, Myoclonus, Delayed puberty ORPHA:251004
Developmental And Epileptic Encephalopathy 2
Inability to walk, Myoclonus OMIM:300672
Simpson-Golabi-Behmel Syndrome
Vertebral fusion, Camptodactyly of finger, Congenital diaphragmatic hernia, Short neck, Increased... ORPHA:373
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspnea, Weight loss, Aspiration pneumonia, Cough, Failure to thrive ORPHA:1018
Primary Hepatic Neuroendocrine Carcinoma
Dyspnea, Bronchospasm, Weight loss ORPHA:100085
Familial Gestational Hyperthyroidism
Hand tremor, Weight loss ORPHA:99819
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Atelis Syndrome 2
Kyphosis, Sacral dimple, Dysmetria OMIM:620185
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Corticosteroid-Sensitive Aseptic Abscess Syndrome
Weight loss ORPHA:54251
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Vocal cord paralysis, Weight loss ORPHA:29072
Nodular Non-Suppurative Panniculitis
Weight loss ORPHA:33577
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Spinal canal stenosis, Fused cervical vertebrae, Vertebral segmentati... ORPHA:1724
Sarcoidosis, Susceptibility To, 1
Dyspnea, Bronchiectasis, Weight loss, Hypoxemia, Restrictive ventilatory defect, Pleural effusion... OMIM:181000
Igg4-Related Retroperitoneal Fibrosis
Low back pain, Rheumatoid arthritis, Renal tubular epithelial necrosis, Weight loss ORPHA:49041
Polycythemia Vera
Weight loss, Epistaxis, Respiratory insufficiency, Pulmonary embolism ORPHA:729
Combined Oxidative Phosphorylation Deficiency 14
Growth delay, Myoclonus OMIM:614946
Imerslund-Gräsbeck Syndrome
Failure to thrive, Weight loss ORPHA:35858
Neuroendocrine Tumor Of The Colon
Bronchospasm, Weight loss ORPHA:100080
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Chronic Graft Versus Host Disease
Dyspnea, Wheezing, Pneumothorax, Flexion contracture, Bronchiectasis, Weight loss, Arthritis, Cou... ORPHA:99921
Orofaciodigital Syndrome Type 3
Oculomotor apraxia, Spasticity, Myoclonus ORPHA:2752
Congenital Analbuminemia
Increased circulating antibody level ORPHA:86816
Granulomatosis With Polyangiitis
Sinusitis, Respiratory insufficiency, Weight loss, Cough, Rhinorrhea OMIM:608710
16Q24.3 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261250
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis OMIM:619244
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Intrauterine growth retardation, Myoclonus ORPHA:1352
Listeriosis
Ataxia, Tremor, Rhabdomyolysis, Hemiparesis, Myoclonus ORPHA:533
Lafora Disease
Ataxia, Inability to walk, Gait disturbance, Myoclonus, Erratic myoclonus, Spasticity ORPHA:501
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Scoliosis, Spasticity, Failure to thrive OMIM:617140
Shprintzen Omphalocele Syndrome
Kyphosis, Lumbar hyperlordosis, Scoliosis, Decreased body weight OMIM:182210
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... ORPHA:2911
Myoclonic Epilepsy Of Lafora
Gait disturbance, Myoclonus, Apraxia OMIM:254780
Acrodermatitis Enteropathica
Failure to thrive, Weight loss ORPHA:37
Neuroendocrine Tumor Of The Rectum
Bronchospasm, Weight loss ORPHA:100081
Neuroendocrine Tumor Of Anal Canal
Bronchospasm, Weight loss ORPHA:100082
Budd-Chiari Syndrome
Weight loss ORPHA:131
Familial Thrombocytosis
Paresthesia, Weight loss ORPHA:71493
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Broad-based gait, Ataxia, Small for gestational age, Failure to thrive in infancy,... ORPHA:268261
Systemic Mastocytosis With Associated Hematologic Neoplasm
Increased susceptibility to fractures, Bone pain, Osteoporosis, Weight loss ORPHA:98849
Aspartylglucosaminuria
Kyphosis, Spasticity, Macroglossia, Platyspondyly, Spondylolysis, Scoliosis, Beaking of vertebral... OMIM:208400
Klatskin Tumor
Weight loss ORPHA:99978
Dyskeratosis Congenita, Autosomal Recessive 2
Testicular atrophy OMIM:613987
Acute Adrenal Insufficiency
Failure to thrive, Muscle weakness, Weight loss ORPHA:95409
Stevens-Johnson Syndrome
Dyspnea, Restrictive ventilatory defect, Weight loss, Cough ORPHA:36426
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Toxic Epidermal Necrolysis
Respiratory distress, Restrictive ventilatory defect, Weight loss, Cough ORPHA:537
Hyper-Igd Syndrome
Increased circulating IgD level, Increased circulating IgA level OMIM:260920
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Decreased muscle mass, Small for gestational age, Kyphosis, Abno... OMIM:194190
Mend Syndrome
Kyphosis, Sacral dimple, Hypertonia, Failure to thrive OMIM:300960
Opsoclonus-Myoclonus Syndrome
Rigidity, Limb myoclonus, Ataxia, Myoclonus ORPHA:1183
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Hyp... ORPHA:818
Familial Pancreatic Carcinoma
Back pain, Weight loss ORPHA:1333
Carney-Stratakis Syndrome
Weight loss ORPHA:97286
Autosomal Recessive Robinow Syndrome
Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segmentation defect, Scol... ORPHA:1507
Castleman Disease
Dyspnea, Weight loss, Cough ORPHA:160
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Scoliosis, Difficulty walking OMIM:619482
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Scoliosis, Biconcave vertebral bodies, Fa... ORPHA:955
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Ataxia, Hypertonia, Myoclonus, Spasticity, Failure to thrive OMIM:618426
Ramon Syndrome
Kyphosis, Scoliosis, Decreased body weight OMIM:266270
Classic Homocystinuria
Hemiplegia/hemiparesis, Kyphosis, Scoliosis ORPHA:394
Kidney Tubulopathy-Dilated Cardiomyopathy Syndrome
Hyperkinetic movements, Myoclonic spasms ORPHA:73224
Tyrosinemia, Type I
Failure to thrive, Periodic paralysis OMIM:276700
Wrinkly Skin Syndrome
Scapular winging, Hypoplasia of the musculature, Kyphosis, Scoliosis, Failure to thrive OMIM:278250
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Kyphoscoliosis, Scoliosis, Camptodactyly, Joint contracture of the hand OMIM:309800
Lathosterolosis
Failure to thrive, Myoclonus ORPHA:46059
Hermansky-Pudlak Syndrome
Dyspnea, Epistaxis, Weight loss ORPHA:79430
Lowe Oculocerebrorenal Syndrome
Failure to thrive, Camptodactyly of finger, Kyphosis, Platyspondyly, Scoliosis, Joint contracture... OMIM:309000
Cdags Syndrome
Kyphosis OMIM:603116
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis OMIM:609944
Cushing Syndrome Due To Ectopic Acth Secretion
Fatiguable weakness of proximal limb muscles, Increased body weight, Weight loss, Proximal amyotr... ORPHA:99889
Granulomatosis With Polyangiitis
Sinusitis, Epistaxis, Chronic pulmonary obstruction, Respiratory insufficiency, Weight loss, Rest... ORPHA:900
Pachydermoperiostosis
Hyperhidrosis, Elevated circulating growth hormone concentration, Impaired temperature sensation ORPHA:2796
Gaucher Disease
Arthrogryposis multiplex congenita, Increased circulating antibody level, Short stature, Delayed ... ORPHA:355
Postinfectious Vasculitis
Abnormality of humoral immunity, Cryoglobulinemia, Increased circulating antibody level, Increase... ORPHA:48435
Kinsship Syndrome
Failure to thrive, Myoclonus, Spastic tetraparesis OMIM:619297
Sarcoidosis
Facial palsy, Dyspnea, Pneumothorax, Bronchiectasis, Upper airway obstruction, Weight loss, Pleur... ORPHA:797
Lenz-Majewski Hyperostotic Dwarfism
Kyphosis, Facial palsy, Scoliosis ORPHA:2658
Fanconi Anemia
Patent ductus arteriosus, Hip dislocation, Reduced bone mineral density, Weight loss, Scoliosis ORPHA:84
Addison Disease
Failure to thrive, Muscle weakness, Weight loss ORPHA:85138
Neuroendocrine Tumor Of Stomach
Bronchospasm, Weight loss ORPHA:100075
Pancreatic Triacylglycerol Lipase Deficiency
Rickets, Osteoporosis, Osteomalacia, Weight loss ORPHA:309031
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Anemia, Congenital Dyserythropoietic, Type Iv
Weight loss OMIM:613673
Degcags Syndrome
Small for gestational age, Vocal cord paralysis, Abnormal myelination, Diaphragmatic eventration,... OMIM:619488
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Ataxia, Kyphosis, Flexion contracture, Knee flexion con... OMIM:259050
Parathyroid Carcinoma
Chondrocalcinosis, Bone pain, Osteoporosis, Weight loss ORPHA:143
Gallbladder Neuroendocrine Tumor
Weight loss ORPHA:100086
Caroli Disease
Weight loss ORPHA:53035
Oculocerebrorenal Syndrome Of Lowe
Clonus, Kyphosis, Platyspondyly, Scoliosis, Failure to thrive ORPHA:534
Renal Nutcracker Syndrome
Weight loss ORPHA:71273
Lysinuric Protein Intolerance
Complement deficiency, Abnormality of humoral immunity, Increased circulating antibody level, Dec... ORPHA:470
Cleidocranial Dysplasia 1
Kyphosis, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Pancreatoblastoma
Weight loss ORPHA:677
Coffin-Siris Syndrome 1
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis, Spina bifida oc... OMIM:135900
17Q11 Microdeletion Syndrome
Abnormal central motor function, Rhabdomyosarcoma, Kyphosis, Abnormality of the vertebral column,... ORPHA:97685
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Camptodactyly of finger, Kyphosis, Platyspondyly, Abnormality of the vertebral column, Failure to... ORPHA:2273
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Tropical Pancreatitis
Weight loss ORPHA:103918
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome
Optic disc pallor, Exaggerated startle response, Involuntary movements, Delayed myelination, Myoc... ORPHA:438213
Spondyloepimetaphyseal Dysplasia, X-Linked
Waddling gait, Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedgi... OMIM:300106
Primary Fanconi Renotubular Syndrome
Muscle weakness, Weight loss ORPHA:3337
Neurofibromatosis Type 1
Kyphosis, Ataxia, Paresthesia, Scoliosis ORPHA:636
Malt Lymphoma
Weight loss ORPHA:52417
Autoinflammatory Syndrome, Familial, X-Linked, Behcet-Like 2
Arthritis, Weight loss OMIM:301074
Coffin-Lowry Syndrome
Kyphosis, Decreased body weight, Scoliosis, Lumbar kyphosis OMIM:303600
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Marburg Hemorrhagic Fever
Back pain, Increased circulating antibody level ORPHA:99826
Ileal Neuroendocrine Tumor
Weight loss ORPHA:100078
Tuberous Sclerosis Complex
Respiratory distress, Respiratory failure, Abnormal social behavior ORPHA:805
Kikuchi-Fujimoto Disease
Ataxia, Weight loss ORPHA:50918
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Scoliosis ORPHA:198
Occipital Horn Syndrome
Kyphosis, Platyspondyly OMIM:304150
Cerebrocostomandibular Syndrome
Kyphosis ORPHA:1393
Classic Congenital Adrenal Hyperplasia Due To 21-Hydroxylase Deficiency
Weight loss, Failure to thrive, Accelerated skeletal maturation, Hypocapnia ORPHA:90794
Ring Chromosome 7 Syndrome
Lumbar kyphoscoliosis, Genu valgum ORPHA:1449
Orofaciodigital Syndrome Type 14
Trigonocephaly, Microcephaly, Abnormal myelination ORPHA:434179
Sotos Syndrome
Hip contracture, Sacrococcygeal teratoma, Ankle flexion contracture, Tremor, Kyphosis, Bilateral ... ORPHA:821
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture OMIM:113620
Doors Syndrome
Optic atrophy, Myoclonus ORPHA:79500
Yunis-Varon Syndrome
Small for gestational age, Anterior concavity of thoracic vertebrae, Failure to thrive in infancy... OMIM:216340
Alström Syndrome
Thoracic scoliosis, Somatic sensory dysfunction, Ataxia, Incoordination, Kyphosis, Obesity, Poor ... ORPHA:64

Histopathology

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

There is no histopathology data for Lama2

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 Lama2.

No publications found that use IMPC mice or data for Lama2.

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