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Gene: Slc18a3 MGI:1101061

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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:
solute carrier family 18 (vesicular monoamine), member 3
Synonyms:
VAT,  VAChT

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 Slc18a3 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 Slc18a3 by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:98914
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Fatigable weakness of skeletal muscles, Hypotonia, Knee flexion contracture, Weakness o... OMIM:617239
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Scoliosis, Arthrogr... ORPHA:994

The table below shows human diseases predicted to be associated to Slc18a3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Distal amyotro... OMIM:607641
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission,... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate current... OMIM:616321
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Hypotonia, Scoliosis OMIM:614750
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Hypotonia, Prolonged miniature endplate currents, Type 2 mu... OMIM:603034
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Distal ... OMIM:612335
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a... OMIM:611067
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Spastic dysarthria, Abnormal upper motor neuron mo... ORPHA:247604
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Knee flexion contracture, Spa... ORPHA:401785
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Spastic paraplegia, Upper limb spastici... OMIM:611225
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Spasticity, Spastic gait OMIM:615681
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Spastic paraplegia, Lower limb muscle weakness OMIM:617046
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Myasthenic Syndrome, Congenital, 18
Fatigable weakness, Ataxia, Difficulty walking OMIM:616330
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
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
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscle action potential ... OMIM:618323
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Hypotonia, Type 2 muscle fiber atrophy, Scoliosis, Neonatal hypotonia, Weakness of ... OMIM:608930
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Difficulty walking OMIM:616227
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Hypotonia, Proximal amyotrophy, Wea... OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Hypotonia, Facial... OMIM:609285
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Knee flexion contracture, Distal am... OMIM:615043
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Spastic paraplegia, Spastic gait OMIM:612539
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Spastic paraplegia, Optic atrophy, Lower limb amyotrophy OMIM:615658
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait ORPHA:401805
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of... OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... OMIM:253400
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Scoliosis,... OMIM:613204
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Hypotonia, Myopathy, Scoliosis, Generalized hypo... OMIM:616471
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ... OMIM:616313
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... OMIM:605809
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Distal amyotrophy, Lower limb... OMIM:610250
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Optic atrophy, Upper limb mus... OMIM:618511
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Dystonia, Hypotonia, Generalized hypotonia, Scoliosis OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... OMIM:617087
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, Generalized hypotonia, Sp... ORPHA:320370
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Severe muscular hypotonia, Hy... OMIM:618184
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Spastic paraplegia ORPHA:357043
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal amyotrophy, Generalized hypot... OMIM:617207
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Fatigable weakn... ORPHA:1320
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Skeletal muscle atrophy, Spastic paraplegia, Scissor gait OMIM:615686
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Spastic paraplegia OMIM:616282
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... OMIM:254210
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Scoliosis ORPHA:488594
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Hypotonia, Proxim... OMIM:619216
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Severe muscular hypotonia, Facial palsy, Fatty replace... OMIM:616165
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials OMIM:608673
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Dysequilibrium Syndrome
Skeletal muscle atrophy, Hypotonia ORPHA:1766
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Prolonged miniature endplate currents, Intrinsic hand muscle atrophy, Fatiga... OMIM:601462
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
Perching Syndrome
Joint contracture, Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Spastic gait, Spastic dysarthria, Spastic tetraparesis OMIM:611637
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... OMIM:300696
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Hypotonia, Facial diplegia, Distal amyotrophy, Distal arth... OMIM:616287
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Spasticity, Flexion contracture OMIM:611105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, De... OMIM:301830
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Scoliosis, Spasticity OMIM:620323
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Optic at... OMIM:312920
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:611895
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Scissor gait, Distal amyotrophy, Leg muscle stiffness, Spastic gait, Progr... ORPHA:101010
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, In... ORPHA:101077
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Opisthotonus, Spastic dysarthria, Hypertonia, Spast... OMIM:205100
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... OMIM:615575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Proximal amyotrophy, ... OMIM:617404
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Scol... ORPHA:424107
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Neonata... OMIM:605253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Kyphosis, Distal upper limb amyotrophy, Scoliosis, Abnormal nerve c... ORPHA:101075
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Type 2 ... ORPHA:2593
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Optic at... OMIM:613162
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Hypotonia, Fatigable weakness, Gene... OMIM:608931
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness in lower limbs, Generalize... OMIM:253300
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
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
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Spastic paraplegia, Spastic ... OMIM:607225
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:617892
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... OMIM:613205
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Hypotonia, Increased variability in muscle fiber diameter, Gen... OMIM:620265
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Severe muscular hypotonia, Facial palsy, Ankle flexion contr... OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Generalized hypotoni... OMIM:618237
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Generalized hypotonia, Kyphoscoliosis OMIM:619099
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... OMIM:615290
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:602099
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Hypotonia ORPHA:91130
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:302801
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Spasticity, Distal... OMIM:609260
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Spasticity, Distal amyotrophy, Hypertonia, Limb muscle... OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:607678
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spasticity, Spastic paraplegia OMIM:615683
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... OMIM:608323
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Art... OMIM:618393
Female Restricted Epilepsy With Intellectual Disability
Bilateral tonic-clonic seizure, Generalized clonic seizure, Focal-onset seizure, Generalized non-... ORPHA:101039
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spas... OMIM:105400
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... OMIM:614373
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Neonatal hypotonia, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fi... ORPHA:86812
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Abnormal motor neuron morphology DECIPHER:29
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, Decreased circulating gona... OMIM:215470
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia ORPHA:868
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Death in childhood, Joint... OMIM:616081
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:101078
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:616437
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Hypotonia, Knee flexion contracture, Facial diplegia, Distal arthrogrypo... OMIM:616286
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia, Scoliosis ORPHA:1188
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Spinal rigidity, Hyperlordosis, Flexion contracture, H... ORPHA:157973
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Typical Nemaline Myopathy
Neonatal hypotonia, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Fatigable... ORPHA:171436
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Fried Syndrome
Skeletal muscle atrophy, Hypotonia, Scoliosis, Spastic diplegia ORPHA:85335
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Upper limb amyotr... ORPHA:496689
Hereditary Geniospasm
Abnormal social behavior, Chin myoclonus ORPHA:53372
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis OMIM:615376
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis ORPHA:2598
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia ORPHA:1216
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Hypotonia, Opisthotonus, Cervical myelopathy, Syringomyelia, Generalized ... OMIM:207950
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia, Spasticity OMIM:618276
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Increased variability in muscle fiber diamete... ORPHA:238329
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Intrinsic han... ORPHA:3115
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... ORPHA:101081
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Neuropathic spinal arthropathy, Proximal muscle weakness in upper limbs, Decreased motor nerve co... OMIM:607706
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Hypotonia OMIM:300816
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Hypotonia, Prolong... ORPHA:98915
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Limb muscle weakness, Scoliosis, Fatigable weakness of respiratory muscl... ORPHA:329336
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Severe muscular hypotonia, Kyphoscoliosis, Myopathy, Bruising susceptibi... ORPHA:300179
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb muscle weakness, Distal amy... OMIM:605588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Scapular winging, Unfavorable response of muscle weakness to ace... ORPHA:3417
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Spastic paraplegia, D... ORPHA:139578
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Thenar muscle atrophy, Thenar m... OMIM:270685
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Rigidity, Hypotonia, Scoliosis, Dystonia OMIM:618239
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Motor neuron atrophy, Fatigable weakness ... ORPHA:803
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... OMIM:608340
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Fatigua... ORPHA:171881
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Hy... ORPHA:480
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Quadriceps muscle w... ORPHA:254854
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Hand muscle weakness, Spinal cord lesion, Lower limb amyotrophy, Spastic g... ORPHA:320355
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy OMIM:613723
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... OMIM:617114
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Kyphoscoliosis, Optic atrophy, Hypotonia, Generalized amyotrophy, Scoliosis, Genera... OMIM:614707
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... OMIM:158900
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Spinal cord lesion, Lower limb hypertonia, Low... ORPHA:171863
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Hypotonia, Facial diplegia, Generalized amyotroph... OMIM:609560
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar... OMIM:230650
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Appendicular hypotonia, Axial hypotonia, Facial myokymia OMIM:620007
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Cyanotic episode OMIM:610992
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Scoliosis, Dystonia, Spasticity OMIM:500001
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98855
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
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Oculogyric crisis, Optic atrophy, Scoliosis, Dystonia ORPHA:330050
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Fatigable weakness, Scoliosis, Arthro... OMIM:617143
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Scoliosis, Lower limb muscle ... OMIM:616907
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Lower limb muscle weakness, Spastic paraplegia, Optic atrophy, Upper limb ... OMIM:270800
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Fo... OMIM:302802
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Hand muscle weakness, Decreased nerve conduction velocity, Quadri... ORPHA:99948
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Hypotonia, Death in childhood OMIM:618251
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Skeletal muscle atrophy, Spasticity, Decreased nerve conduction velocity OMIM:183050
8p23.1 deletion syndrome
Hyperactivity DECIPHER:39
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Childhood Disintegrative Disorder
Social and occupational deterioration, Dementia, Progressive language deterioration, Impaired soc... ORPHA:168782
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal amyotrophy, Proximal amyotrophy OMIM:608627
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Hypotonia ORPHA:1875
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Dystonia, Kyphosis, Hypotonia, Generalized hypotonia... OMIM:616756
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:98914
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Decreased cervical spine flexion due to contractures of posterior cervical... ORPHA:98863
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Craniofacial dystonia, Hypotonia, Plantar flexion contracture, Arthrogry... OMIM:620011
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Neonatal hypotonia, Increased variability in m... OMIM:616470
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip... ORPHA:171433
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Intrinsic hand muscle atrophy,... ORPHA:90103
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:105550
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Scoliosis ORPHA:101082
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Congenital Myopathy 19
Skeletal muscle atrophy, Axial hypotonia, Facial hypotonia, Congenital contracture, Generalized h... OMIM:618578
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction v... OMIM:614932
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Distal amyotrophy, Scoliosis, Congenital foot contractures ORPHA:3454
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Degeneration of anterior horn cells, Arthrogry... ORPHA:2254
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Neuromyotonia, Foot dorsiflexor weakness OMIM:137200
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Upper limb muscle weakness, Scolios... OMIM:615284
Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98853
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Hypotonia, Intrinsic hand muscle atrophy, Distal amyot... OMIM:616688
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
X-Linked Charcot-Marie-Tooth Disease Type 5
Kyphosis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abnormal nerve conduction velocity ORPHA:99014
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Oxoglutarate Dehydrogenase Deficiency
Dystonia, Rigidity, Hypotonia, Generalized amyotrophy, Death in childhood OMIM:203740
Classic Glucose Transporter Type 1 Deficiency Syndrome
Hypertonia, Spasticity, Cyanosis, Dystonia ORPHA:71277
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Lower limb spasticity, Scoliosis, Dystonia, Decreased serum testosterone... ORPHA:101006
Congenital Myopathy 10B, Mild Variant
Axial hypotonia, Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles... OMIM:620249
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Short neck, Spastic tetraparesis, Knee flexion... ORPHA:284417
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis, Dystonia OMIM:616684
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Dy... ORPHA:300605
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Spastic tetraparesis, Optic atrophy, Hypotonia, Scoliosis, Joint contrac... OMIM:617481
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Flexion contracture, Lower limb muscle weakness, Scoliosis ORPHA:2590
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Progressive spastic parapares... ORPHA:35689
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound healing, Kyphosis... OMIM:130060
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Intrinsic hand muscle atrophy... OMIM:614895
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Knee flexion contracture, Ge... OMIM:612954
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Distal amyotrophy, Distal lower limb muscle weakness, Spinocerebellar tract d... ORPHA:94124
Intellectual Disability, Birk-Barel Type
Sacral dimple, Foot joint contracture, Spinal muscular atrophy, Fatigable weakness of skeletal mu... ORPHA:166108
Schindler Disease, Type I
Optic atrophy, Hypotonia, Generalized amyotrophy, Generalized hypotonia, Spasticity OMIM:609241
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Kyphosis, Flexion contracture, Spastic paraplegia, Optic atrophy, Distal amyot... OMIM:609541
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk... OMIM:255160
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Scoliosis, Limb hyp... OMIM:619527
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Optic atrophy, Di... ORPHA:496756
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Axial hypotonia, Optic atrophy, Hypotonia, Generalize... OMIM:618228
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture OMIM:616516
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Spinal muscular atrophy, Hypotonia, Myopathy, Scoliosis, Generalized hyp... ORPHA:254875
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Optic atrophy, Hypotonia ORPHA:477814
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis OMIM:607831
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Hand ... ORPHA:101097
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb amyotrophy, Distal lower li... ORPHA:99950
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Spasticity, Hyperlordosis OMIM:162370
Spastic Paraplegia 85, Autosomal Recessive
Lower limb spasticity, Torticollis, Spastic paraplegia, Optic atrophy, Upper limb spasticity, Gen... OMIM:619686
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Axial hypotonia, Optic atroph... OMIM:615419
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Hypotonia, Degeneration of anterior horn cells, Congenital contracture, ... OMIM:607596
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Death in infancy, Axial hypotonia, Kyphoscoliosis, Spastic paraparesis, ... OMIM:260600
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Neonatal hypotonia, Spinal rigidity, Centr... OMIM:620351
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Optic atrophy, Lower limb hypertonia, Generalized amyotrophy, Scoliosis, L... ORPHA:1177
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... OMIM:616827
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Generalized amyotrophy, Abnormal upper motor neuron morph... ORPHA:275872
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Lower limb amyotrophy, Upp... ORPHA:100986
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contractur... OMIM:248800
Hsd10 Disease
Choreoathetosis, Short attention span, Abnormal social behavior, Ataxia ORPHA:391417
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Hypotonia OMIM:615511
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... OMIM:118220
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:99944
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol... OMIM:145900
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Lower limb muscle weakness, Spinal cord lesion, Lower limb amyotrophy, Spa... ORPHA:100999
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... OMIM:271225
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture OMIM:613710
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Spastic paraplegia, Lower limb spasticity ORPHA:100988
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Scheuermann-like vertebral changes, Cervic... OMIM:301900
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypotonia, Myopathy, Scoliosis OMIM:618234
Hereditary Methemoglobinemia
Cyanosis, Spastic tetraplegia, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis ORPHA:98896
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:261600
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Death in infancy, Axial hypotonia, Hypotonia, Death in childhood, Infant... OMIM:245400
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice OMIM:618512
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Congenital foot contractu... OMIM:314580
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:616455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... OMIM:118200
Spastic Paraplegia 39, Autosomal Recessive
Atrophy of the spinal cord, Distal amyotrophy, Distal lower limb muscle weakness, Progressive spa... OMIM:612020
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Generalized hypotonia, Dystonia OMIM:618910
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Hypotonia, Abnormal autonomic nervous s... ORPHA:97229
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Axial hypotonia, Dystonia, Kyphoscoliosis, Flexion contracture, Spastic ... ORPHA:59
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Fucosidosis
Decreased muscle mass, Kyphosis, Spastic tetraplegia, Hypotonia, Anterior beaking of lumbar verte... ORPHA:349
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Rigidity, Optic atrophy, Hypotonia, Myopathy, Hypertonia, Muscular dystr... ORPHA:559
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypotonia, Scoliosis ORPHA:276630
Spastic Paraplegia 53, Autosomal Recessive
Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia, Dystonia OMIM:614898
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Sjögren-Larsson Syndrome
Kyphosis, Erythema, Hypotonia, Spastic diplegia, Urticaria, Scoliosis, Spasticity ORPHA:816
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Sialidosis Type 2
Kyphosis, Flexion contracture, Generalized hypotonia, Skeletal muscle atrophy ORPHA:87876
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Early-Onset Autosomal Dominant Alzheimer Disease
Ataxia, Confusion, Dementia, Semantic dementia, Memory impairment, Abnormal social behavior ORPHA:1020
Benign Familial Infantile Epilepsy
Hypertonia, Cyanosis ORPHA:306
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Fatigable weakness of skeletal muscles, Hypotonia, Knee flexion contracture, Weakness o... OMIM:617239
Masa Syndrome
Kyphosis, Spastic paraplegia, Lower limb spasticity, Hyperlordosis OMIM:303350
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Spastic paraplegia, Upper limb spasticity, Scoliosis, Limb muscl... OMIM:614409
Kleefstra Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis OMIM:617768
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Scoliosis, Weakness of facial musculature, Foot dorsiflex... OMIM:618811
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K... OMIM:618291
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Optic disc pallor, Multiple joint contractures, Optic atrophy, Dist... ORPHA:320406
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Limb dystonia ORPHA:319199
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Generalized hypotonia OMIM:618658
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Foot dorsiflexor weakness, Hypotonia, Scoliosis OMIM:618124
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... OMIM:609033
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypotonia ORPHA:2013
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:617258
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta, Hypotonia, Bruising susceptibility ORPHA:230839
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality of skeletal muscle fib... OMIM:620278
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Camptodactyly of finger, Acute rhabdomyolysis, Kyphosis, Scoliosis, Abnormality of the cervical s... ORPHA:48431
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Limb hypertonia, Lower limb amyotrophy, Spastic gait, Progressive spastic ... ORPHA:401815
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology, Neurogenic bladder, Spastic paraplegia, Orthostatic hypot... OMIM:263570
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Neurogenic bladder, Distal lower... ORPHA:276244
Amyotrophy, Monomelic
Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy OMIM:602440
Breath-Holding Spells
Cyanosis OMIM:607578
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Optic atrophy, Increas... OMIM:258450
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy, Axial hypotonia, Optic atrophy OMIM:617255
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Skeletal muscle atrophy, Axial hypotonia, Opisthotonus OMIM:616896
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
11Q22.2Q22.3 Microdeletion Syndrome
Short attention span, Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:444002
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Atrophy of the spinal cord, Spa... OMIM:256840
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Autism Spectrum Disorder Due To Auts2 Deficiency
Kyphosis, Congenital contracture, Hypertonia, Joint contracture of the 5th finger, Scoliosis, Gen... ORPHA:352490
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy ORPHA:2028
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
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Sialidosis Type 1
Skeletal muscle atrophy, Decreased nerve conduction velocity, Kyphosis, Hypotonia, Abnormal form ... ORPHA:812
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Optic atro... OMIM:164400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis OMIM:612079
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Axial hypotonia, Abnormality of the musculature of the lower limbs, Kyphos... ORPHA:464282
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Proximal amyotrophy OMIM:604484
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypotonia, Joint contracture of the 5th finger, Generalized hypotonia, Dystonia, Acrocyanosis OMIM:614407
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Autosomal Recessive Spastic Paraplegia Type 39
Atrophy of the spinal cord, Spastic paraplegia, Generalized limb muscle atrophy, Lower limb spast... ORPHA:139480
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal muscle tone, Scoliosis ORPHA:505652
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Optic atrophy, Hypotonia, Spastic diplegia, Dystonia ORPHA:391428
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Severe muscular hypotonia, Flexion contracture, Abnormal muscle glycogen... ORPHA:367
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Dystonia, Death in infancy, Kyphosis, Jaundice, Hypot... OMIM:615512
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Axial hypotonia, Flexion contracture, Generalized hypotonia, Spasticity OMIM:614678
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Kyphoscoliosis, Reduce... ORPHA:157954
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Spastic paraplegia, Generalized amyotrophy, Abnormal upper motor neuron mo... OMIM:601162
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Kennedy Disease
Skeletal muscle atrophy, Hypotonia ORPHA:481
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Abnormal autonomic nervous system physiology, Scoliosis, Spasticity OMIM:610743
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Hypotonia, Generalized hypotonia OMIM:612300
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Axial hypotonia, Lower limb muscle weakness, Scoliosis... OMIM:610532
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis ORPHA:1548
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Myopathy, Distal arthrogryposis, Fatigabl... ORPHA:42
Alpha-Mannosidosis
Short neck, Kyphosis, Hypotonia, Macroglossia, Scoliosis, Generalized abnormality of skin ORPHA:61
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Muscular dystrophy, Lower limb muscle we... OMIM:615980
Crisponi Syndrome
Death in infancy, Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Thenar muscle atrophy, Spastic paraplegia, Lower ... OMIM:604360
Intellectual Developmental Disorder, Autosomal Dominant 26
Kyphosis, Hypertonia, Scoliosis, Generalized hypotonia, Arthrogryposis multiplex congenita OMIM:615834
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Hypotonia, Petechiae OMIM:602473
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Scoliosis, Death... OMIM:211530
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Cyanosis, Infantile muscular hypotonia, Right ventricular hypertrophy ORPHA:444013
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia, Dystonia OMIM:105300
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Generalized hypotonia, Prolonged neonatal jaundice OMIM:616828
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemor... ORPHA:335
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Spastic tetraparesis, Knee flexion contracture, Distal amyotrophy, Skele... ORPHA:3208
Winchester Syndrome
Kyphosis OMIM:277950
Lopes-Maciel-Rodan Syndrome
Axial hypotonia, Kyphosis, Hypertonia, Scoliosis, Dystonia, Spasticity OMIM:617435
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Axial hypotonia ORPHA:1949
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Ck Syndrome
Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis OMIM:300831
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Hypotonia, Myopathy, Generalize... OMIM:616239
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Poor wound healing, Kyphosis, Increased circulating ACTH level, Facial e... OMIM:219090
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Optic... ORPHA:320375
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615704
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2429
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip... ORPHA:171430
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Optic atrophy, Upper limb muscle weakness, Facial di... ORPHA:254930
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Frog-leg posture, Generalized hypotonia OMIM:618603
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Kyphosis, Premature graying of hair, Vertebral segmentation defect, ... ORPHA:2617
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Decreased circulating ACTH concentration, Increased circulatin... OMIM:219080
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis ORPHA:970
Ataxia-Telangiectasia
Skeletal muscle atrophy, Telangiectasia of the skin, Prematurely aged appearance, Premature grayi... ORPHA:100
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis... OMIM:255800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Arm dystonia, Scoliosis, Neonatal hypot... ORPHA:88644
Histidinemia
Hyperactivity ORPHA:2157
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Generalized hypotonia,... ORPHA:98755
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Kyphoscoliosis, Flexion contracture, Hypotonia ORPHA:75496
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Generalized dystonia, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy, Hypotonia OMIM:619759
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:300354
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Hypertonia, General... OMIM:617710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Axial hypotonia, Cyanosis, Hypotonia, Opisthotonus, Generalized hypotonia, Limb hypertonia OMIM:619580
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture OMIM:606631
Baralle-Macken Syndrome
Neonatal hypotonia, Kyphosis, Spasticity, Dystonia OMIM:619255
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Hypertonia, Genera... ORPHA:466768
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypotonia OMIM:610773
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Kyphosis, Abnormal spinal cord morphology, Abnormal sensory nerve conduction velocity, Scoliosis,... ORPHA:88628
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Dystonia ORPHA:98757
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, Scoliosis, Cong... OMIM:108145
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology, Spasticity OMIM:221770
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Optic atrophy, Di... OMIM:614298
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Kyphosis, Knee flexion contracture OMIM:603387
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Spasticity OMIM:616719
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Cyanosis, Opisthotonus OMIM:250800
Dravet Syndrome
Rigidity, Cyanotic episode, Infantile muscular hypotonia, Cogwheel rigidity ORPHA:33069
Tricuspid Atresia
Cyanosis ORPHA:1209
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram, Limb mus... OMIM:109500
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Neurogenic bladder, Progressive spastic quadriplegia, Facial myokymia, D... ORPHA:513436
Tetrasomy 5P
Neonatal hypotonia, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, Short neck ORPHA:3309
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neurogenic bladder, Axial hypotonia, Lower limb spasticity, Kyphoscoliosis, ... ORPHA:466722
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Facial diplegia, Facial paralysis OMIM:613559
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertonia, Scoliosis, Dystonia ORPHA:96
Rett Syndrome
Skeletal muscle atrophy, Abnormal autonomic nervous system physiology, Increased serum leptin, Dy... ORPHA:778
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Spasticity, Axial hypotonia, Generalized hypotonia OMIM:618862
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... OMIM:300280
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Flynn-Aird Syndrome
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:2047
Childhood Absence Epilepsy
Bilateral tonic-clonic seizure, Urinary incontinence, Typical absence seizure, Limb myoclonus, Fe... ORPHA:64280
Atypical Rett Syndrome
Kyphosis, Hypotonia, Abnormal muscle tone, Scoliosis, Dystonia, Neonatal hypotonia, Spasticity ORPHA:3095
Sandhoff Disease
Kyphosis ORPHA:796
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Spasticity, Generalized hypotonia OMIM:617695
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Spinocerebellar tract ... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Spinocerebellar tract ... ORPHA:276241
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Cyanosis, Death in infancy, Optic neuropathy, Ragged-... OMIM:252010
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis, Hidrotic ectod... ORPHA:1883
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:2257
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Flexion contracture, Skeleta... ORPHA:682
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis OMIM:618392
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy OMIM:162100
Buerger Disease
Acrocyanosis ORPHA:36258
Ethylmalonic Encephalopathy
Acrocyanosis, Generalized hypotonia, Petechiae ORPHA:51188
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Hypotonia OMIM:615578
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Hypotonia, Elevated circulating calcitonin concen... OMIM:162300
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypotonia, Generalized hypotonia OMIM:232500
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... OMIM:250790
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, Generalized hypotonia ORPHA:85329
Lateral Meningocele Syndrome
Vertebral fusion, Neurogenic bladder, Tethered cord, Decreased muscle mass, Short neck, Kyphosis,... OMIM:130720
L1 Syndrome
Skeletal muscle atrophy, Spasticity, Aganglionic megacolon ORPHA:275543
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Rigidity, Hypotonia, Prolonged neonatal jaundice, Spasticity OMIM:257200
Microhydranencephaly
Spastic tetraplegia, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hypotonia, Scoliosis OMIM:619797
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Hypotonia, Platyspondyly, Generalized hypotonia, Scoliosis OMIM:614856
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture ORPHA:309162
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Hypotonia, Scoliosis OMIM:300676
Autosomal Recessive Spondylocostal Dysostosis
Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital diaphragmatic hernia... ORPHA:2311
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Spastic paraplegia, Optic atrophy, Myopathy, Temporal ... ORPHA:98673
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Rett Syndrome
Skeletal muscle atrophy, Kyphosis, Scoliosis, Dystonia, Spasticity OMIM:312750
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Scoliosis ORPHA:85317
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Syringomyelia, Hypotonia, Scoliosis ORPHA:94063
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Congenital Heart Block
Cyanosis ORPHA:60041
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Flexi... OMIM:255995
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:162400
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Neonatal hypotonia, Arthrogryposis multi... OMIM:615547
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H... ORPHA:628
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Thoracic scoliosis, Contractures of the large joints OMIM:616716
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Increased intramyocellular lipid dr... OMIM:255125
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Kyphosis, Hypotonia, Angiokeratoma corporis diffusum, Hypoplastic v... OMIM:230500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Increased circulating gonadotropin level, Decreased serum estradiol, Dec... ORPHA:168563
Cog8-Cdg
Spontaneous hematomas, Skeletal muscle atrophy, Infantile muscular hypotonia ORPHA:95428
Hall-Riggs Syndrome
Irregular vertebral endplates, Platyspondyly, Kyphosis, Scoliosis OMIM:234250
Gm1 Gangliosidosis
Generalized dystonia, Dystonia, Camptodactyly of finger, Hyperlordosis, Kyphosis, Aplasia/Hypopla... ORPHA:354
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Optic disc pallor, Kyphoscoliosis, Short neck, Hypoplasia of the odontoi... OMIM:300232
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Facial palsy, Hyperlordosis ORPHA:3068
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Spastic paraplegia ORPHA:896
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Poliomyelitis
Skeletal muscle atrophy, Hypoplasia of the musculature, Abnormal motor nerve conduction velocity,... ORPHA:2912
Hemifacial Atrophy, Progressive
Kyphosis, Horner syndrome OMIM:141300
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Cyanosis, Opisthotonus ORPHA:3304
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Dystonia, Erythema, Prolonged neonatal jaundice, Spasticity, Acrocyanosis, Petec... OMIM:225750
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Hypotonia, Fatigable we... ORPHA:26791
X-Linked Intellectual Disability Due To Gria3 Mutations
Axial hypotonia, Facial hypotonia, Kyphosis, Scoliosis, Spasticity, Abnormality of muscle size ORPHA:364028
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Lamb-Shaffer Syndrome
Seizure, Abnormal social behavior, Ataxia ORPHA:530983
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Hypoplasia of the musculature, ... OMIM:254940
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Neuraminidase Deficiency
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia OMIM:256550
Cockayne Syndrome Type 2
Lower limb spasticity, Axial hypotonia, Progeroid facial appearance, Kyphosis, Flexion contractur... ORPHA:90322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Optic atrophy, Hypotonia, Calf mus... OMIM:253800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Hypotonia, Congenital contracture, Scoliosis, Campto... OMIM:248700
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Scoliosis, Generalized hypotonia, Bruising susceptibility, Fragile skin OMIM:617821
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Hypotonia, Scoliosis ORPHA:261144
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Dystonia, Scoliosis, Spastic paraparesis OMIM:615157
Alg1-Cdg
Kyphosis, Hypotonia, Scoliosis ORPHA:79327
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv... ORPHA:508533
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Hyperlordosis ORPHA:3085
Pelizaeus-Merzbacher Disease
Kyphosis, Optic atrophy, Hypotonia, Scoliosis, Dystonia, Spasticity ORPHA:702
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypotonia, Facial diplegia, Dystonia, Spasticity OMIM:612073
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Right ventricular hypertrophy ORPHA:860
Japanese Encephalitis
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Decreased motor nerv... ORPHA:79139
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Spasticity, Optic atrophy, Hypotonia OMIM:620089
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Axial hypotonia, Short neck, Hypotonia, Hypertonia, Neonatal hypotonia, ... OMIM:615802
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Optic atrophy, Scoliosis, Progressive spas... ORPHA:496641
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypotonia ORPHA:156
Trisomy 17P
Skeletal muscle atrophy, Short neck, Flexion contracture, Hypotonia, Macroglossia, Hypertonia, Sc... ORPHA:261290
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Mucopolysaccharidosis, Type Iva
Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, ... OMIM:253000
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Hypotonia, Myopath... ORPHA:1358
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Hypotonia, Macroglossia, Death in childhood, Sp... OMIM:268800
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Spasticity, Axial hypotonia OMIM:616420
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Hypotonia, Abnormal curvature... ORPHA:168572
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Death in infancy, Short neck, Jaundice, Hypotonia, E... OMIM:608779
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Hypotonia OMIM:615433
Fountain Syndrome
Cutis marmorata, Spina bifida, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scolios... ORPHA:3219
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture, Hypotonia, Spasticity, Lim... ORPHA:481152
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
4Q21 Microdeletion Syndrome
Kyphosis, Hypotonia, Scoliosis, Short neck ORPHA:238750
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis ORPHA:159
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Hypertonia, Hypotonia OMIM:614153
15Q24 Microdeletion Syndrome
Kyphosis, Congenital diaphragmatic hernia, Hypotonia, Scoliosis ORPHA:94065
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Dural ecta... ORPHA:2789
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy OMIM:261680
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Death in early adulthood, Kyphosis, Optic atrophy, Hypotonia, Abnormal f... ORPHA:192
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Hypotonia, Opisthotonus, Generalized hypotonia, Spasticity OMIM:103050
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Hypotonia, Dystonia OMIM:617339
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Infantile muscular hypotonia, T... ORPHA:15
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Hypotonia, Hypertonia, Generalized hypotonia, Death in childhood, Spa... OMIM:618426
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Rhabdomyolysis, Limb m... OMIM:157640
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Infantile muscular hypotonia ORPHA:324737
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1933
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Hypertonia, Hypotonia, Opisthotonus OMIM:619272
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Foot dorsiflexor weakness OMIM:616586
Frank-Ter Haar Syndrome
Kyphosis, Beaking of vertebral bodies, Camptodactyly of finger, Scoliosis ORPHA:137834
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypotonia, Generalized hypotonia, Scoliosis, Acrocyanosis OMIM:223900
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity ORPHA:85323
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Scoliosis OMIM:300861
Ruijs-Aalfs Syndrome
Premature graying of hair, Thoracic kyphoscoliosis, Elbow flexion contracture, Skeletal muscle at... OMIM:616200
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal cord compressi... ORPHA:94068
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Lower limb spasticity, Optic atrophy, Hypotonia, Upper limb spasticity, ... OMIM:617193
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Spasticity, Spastic gait, Kyphoscoliosis ORPHA:447760
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Kyphosis, Hemivertebrae, Abnormal form of the ... ORPHA:2916
Metachromatic Leukodystrophy, Adult Form
Short attention span, Chorea, Progressive psychomotor deterioration, Progressive gait ataxia, Dem... ORPHA:309271
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Kyphosis, Hyp... OMIM:616914
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia ORPHA:2655
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Generalized hypotonia ORPHA:488627
Sepsis In Premature Infants
Cyanosis, Jaundice, Neonatal hypotonia, Petechiae, Purpura ORPHA:90051
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... OMIM:112250
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Spastic paraplegia, Optic atrophy, Hypotonia, Opisthotonus, Hypertonia, ... OMIM:614969
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Scoliosis OMIM:259440
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Hypotonia, Knee flexion contracture, Scoliosis ORPHA:435638
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Emanuel Syndrome
Sacral dimple, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Scoliosis, Join... OMIM:609029
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Trisomy 20P
Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Hypotonia, Abnormal form of the vert... ORPHA:261318
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Kyphosis, Joint contracture, Telangiectasia of the skin, Scoliosis OMIM:615381
Distal Triplication 15Q
Kyphosis, Flexion contracture, Hypotonia, Syringomyelia, Scoliosis, Camptodactyly ORPHA:314588
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Decreased c... OMIM:610475
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Hypotonia ORPHA:127
Distal 16P11.2 Microdeletion Syndrome
Neonatal hypotonia, Kyphosis, Aganglionic megacolon ORPHA:261222
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... OMIM:177170
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypo... ORPHA:2215
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Dystonia OMIM:200150
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Generalized hypotonia OMIM:251450
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Erythema, Flexion contracture OMIM:619183
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Generalized hypotonia, Short neck OMIM:608776
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Foot dorsiflexor weakness OMIM:169400
Shashi-Pena Syndrome
Kyphosis, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia OMIM:617190
Metachromatic Leukodystrophy, Late Infantile Form
Urinary incontinence, Gait ataxia, Seizure, Progressive gait ataxia, Abnormal social behavior ORPHA:309256
Hurler-Scheie Syndrome
Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the distal interphalange... OMIM:607015
Familial Dysautonomia
Orthostatic hypotension, Optic atrophy, Hypotonia, Scoliosis, Acrocyanosis ORPHA:1764
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Hypotonia ORPHA:93274
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Upper limb muscle weakness, Spastic dysarthria, Distal amyotrophy, Gener... ORPHA:101000
3C Syndrome
Death in infancy, Short neck, Kyphosis, Hemivertebrae, Hypotonia, Optic atrophy, Scoliosis ORPHA:7
Urban-Rogers-Meyer Syndrome
Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck ORPHA:3409
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia ORPHA:31
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Flexion contracture, Hypotonia, Generalized hypotonia OMIM:300243
Jaberi-Elahi Syndrome
Appendicular spasticity, Kyphosis, Optic atrophy, Hypotonia, Scoliosis, Dystonia OMIM:617988
Fetal Akinesia Deformation Sequence
Multiple joint contractures, Camptodactyly of finger, Generalized amyotrophy, Scoliosis, Arthrogr... ORPHA:994
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Flexion contracture, Macroglossia, Cervical cord compression OMIM:309900
Tarp Syndrome
Optic atrophy, Cyanosis, Generalized hypotonia, Scoliosis ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Hypotonia, Myopathy, Type 1 mu... OMIM:614557
Metachromatic Leukodystrophy, Juvenile Form
Short attention span, Progressive gait ataxia, Abnormal social behavior, Progressive psychomotor ... ORPHA:309263
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Spastic gait, Progressive spastic paraplegia ORPHA:2821
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Hypotonia, Type 2 muscle fiber predominance, Scoliosis, Dystonia OMIM:615471
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Optic atrophy, Generalized hypotonia, Scoli... OMIM:618493
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Facial palsy, Abnormal glossopharyngeal nerve morphology, Abn... ORPHA:297
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Hypotonia OMIM:614300
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Structural Heart Defects And Renal Anomalies Syndrome
Neonatal hypotonia, Death in infancy, Cyanosis OMIM:617478
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scapular winging, Hypotonia, Scoliosis OMIM:617061
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Kyphosis, Scoliosis ORPHA:2181
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Ectodermal dysplasia, Camptodactyly, Arthrogryposis mult... OMIM:601701
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Cranial nerve compression, Scoliosi... OMIM:131300
Trisomy 13
Kyphosis, Optic atrophy, Hypotonia, Scoliosis ORPHA:3378
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Axial hypotonia, Scoliosis ORPHA:251061
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Hypotonia, Fu... ORPHA:1724
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Cushing Disease
Plethora, Increased urinary cortisol level, Purpura, Dorsocervical fat pad, Paradoxical increased... ORPHA:96253
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Axial hypotonia, Limb joint contracture, Flexion contracture, Hypotonia,... OMIM:301072
Walker-Warburg Syndrome
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Muscular dystrophy, Aplasia/Hypoplasia involvi... ORPHA:899
Mucopolysaccharidosis, Type Ivb
Ovoid vertebral bodies, Hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Cervical mye... OMIM:253010
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Tay-Sachs Disease
Skeletal muscle atrophy, Dystonia, Lower limb muscle weakness, Quadriceps muscle atrophy, Optic a... ORPHA:845
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Extrapyramidal muscular rigidity, Axial h... ORPHA:51
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Hypotonia, Scoliosis, Spasticity OMIM:618443
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia OMIM:615934
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... ORPHA:93360
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Cutis marmorata, Urticaria, Acrocyanosis, Purpura ORPHA:183
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Hypotonia, Excessive wrinkled skin, Platyspondyly ORPHA:1860
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Optic nerve hypoplasia, Kyphosis, O... ORPHA:261349
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210210
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Refsum Disease
Skeletal muscle atrophy, Hypotonia ORPHA:773
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Scoliosis, Short neck ORPHA:3191
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Right ventricular hypertrophy ORPHA:555874
Ruvalcaba Syndrome
Kyphosis, Scoliosis OMIM:180870
Unilateral Polymicrogyria
Cyanosis, Axial hypotonia, Spastic tetraplegia, Appendicular hypotonia, Giant somatosensory evoke... ORPHA:268943
Esophageal Atresia
Cyanosis, Hypotonia, Hypertonia, Scoliosis, Abnormal vertebral morphology ORPHA:1199
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Severe muscular hypotonia, Diastasis recti, Short ne... ORPHA:488632
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple OMIM:618272
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Plaa-Associated Neurodevelopmental Disorder
Rigidity, Kyphosis, Optic atrophy, Hypotonia, Contractures of the large joints, Progressive spast... ORPHA:521426
Schwartz-Jampel Syndrome
Hip contracture, Abnormally ossified vertebrae, Skeletal muscle atrophy, Death in infancy, Should... ORPHA:800
3M Syndrome
Scapular winging, Hyperlordosis, Short neck, Increased vertebral height, Kyphosis, Scoliosis ORPHA:2616
Mucopolysaccharidosis Type 6
Macroglossia, Kyphosis, Ovoid vertebral bodies, Short neck ORPHA:583
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Macroglossia, Scoliosis, Infantile muscular h... OMIM:301040
Dysostosis, Stanescu Type
Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Sco... ORPHA:2671
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Poor wound healing, Kyphoscoliosis, Atlantoax... ORPHA:536545
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cutis marmorata, Hypotonia, Telangiectasia, Myopathy, Scoliosis, Subcuta... ORPHA:109
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Noonan Syndrome 14
Scapular winging, Short neck, Kyphosis, Hypotonia, Bruising susceptibility OMIM:619745
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platyspondyly, ... OMIM:618476
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Rigidity, Kyphosis, Optic atrophy, Hypotonia, Contractures of the large joints, Hypertonia, Hypom... OMIM:617527
Moebius Syndrome
Skeletal muscle atrophy, Death in infancy, Facial palsy, Aplasia of the pectoralis major muscle, ... ORPHA:570
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Prematurely aged appearance, Miscarriage, Pr... ORPHA:902
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Meckel Syndrome 14
Cyanosis, Short neck OMIM:619879
Ethylene Glycol Poisoning
Cyanosis, Facial palsy ORPHA:31826
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hypotonia, Camptodactyly of finger, Scoliosis OMIM:619951
Recon Progeroid Syndrome
Skeletal muscle atrophy, Cutaneous photosensitivity, Livedo reticularis, Progeroid facial appearance OMIM:620370
Micro Syndrome
Kyphosis, Optic atrophy, Hypotonia, Scoliosis, Spasticity ORPHA:2510
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Congenital Heart Defects And Skeletal Malformations Syndrome
Cutis marmorata, Congenital diaphragmatic hernia, Kyphosis, Scoliosis, Camptodactyly OMIM:617602
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic hernia, Short neck... OMIM:265000
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Hypotonia, Scoliosis, Neonatal hypotonia ORPHA:500055
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Short neck ORPHA:110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Hypotonia, Scoliosis ORPHA:404440
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:2990
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Myopathy OMIM:261740
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Weaver Syndrome
Diastasis recti, Kyphosis, Hypotonia, Hypertonia, Scoliosis, Camptodactyly, Generalized hypotonia... OMIM:277590
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Hypotonia, Abnormal form of the vertebral bodies ORPHA:2050
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Platyspondyly, Neonatal death, Palmoplantar cutis laxa OMIM:616482
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Donohue Syndrome
Skeletal muscle atrophy, Hyperinsulinemia OMIM:246200
Choanal Atresia
Cyanosis ORPHA:137914
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Hypotonia, Pelvic girdle mu... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Hypotonia OMIM:619743
Postencephalitic Parkinsonism
Camptocormia, Oculogyric crisis, Rigidity, Kyphosis, Cogwheel rigidity ORPHA:97349
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Cyanosis, Oxygen desaturation on exertion, Hypoxemia ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Generalized hypotonia, Death in childhood OMIM:618252
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Prader-Willi Syndrome
Decreased muscle mass, Kyphosis, Hyperinsulinemia, Scoliosis, Generalized hypotonia, Neonatal hyp... OMIM:176270
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Generalized dystonia, Spastic tetraparesis, Kyphosis, Spastic paraplegia, ... ORPHA:171629
Pitt-Hopkins Syndrome
Aganglionic megacolon, Short neck, Hypotonia, Scoliosis, Acrocyanosis ORPHA:2896
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis OMIM:619557
Alexander Disease
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal autonomic nervous system p... ORPHA:58
Complete Atrioventricular Septal Defect
Cyanosis, Right ventricular hypertrophy ORPHA:1329
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexion contracture, H... OMIM:212065
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Ataxia, Dysmetria, Positive Romberg sign, Nonprogressive cerebellar ataxia, Memory impairment, Ab... ORPHA:314647
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the verte... ORPHA:2461
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hypotonia OMIM:616294
Rett Syndrome, Congenital Variant
Dystonia, Kyphosis, Generalized hypotonia, Scoliosis, Neonatal hypotonia, Spasticity OMIM:613454
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Increased circu... ORPHA:2232
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Short neck ORPHA:3082
Marshall-Smith Syndrome
Thoracic scoliosis, Axial hypotonia, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the od... OMIM:602535
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Gener... OMIM:610443
Poems Syndrome
Acrocyanosis, Papilledema, Sclerotic vertebral endplates ORPHA:2905
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis ORPHA:3121
Multiple System Atrophy 1, Susceptibility To
Rigidity, Skeletal muscle atrophy, Orthostatic hypotension, Abnormal autonomic nervous system phy... OMIM:146500
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis ORPHA:96169
Cono-Spondylar Dysplasia
Kyphosis, Hypotonia, Scoliosis, Short neck ORPHA:420794
Mucopolysaccharidosis Type 4
Hyperlordosis, Short neck, Kyphosis, Spinal canal stenosis, Platyspondyly, Scoliosis ORPHA:582
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Spasticity, Hypotonia, Scoliosis OMIM:616449
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Congenital diaphragmatic hernia, Kyphosis, Optic atrophy, Hypotonia... ORPHA:280
Camurati-Engelmann Disease
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat tissue ... ORPHA:1328
Aspartylglucosaminuria
Kyphosis, Hypotonia, Spasticity, Angiokeratoma corporis diffusum, Macroglossia, Platyspondyly, Sp... OMIM:208400
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Hurler Syndrome
Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, Macroglossia, Bico... OMIM:607014
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scoliosis ORPHA:568
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Dystonia, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis,... ORPHA:17
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Dystonia, Optic atrophy, Spastic diplegia, ... ORPHA:506
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Dystonia, Short neck, Kyphosis, Prominent protruding coccyx, Spastic diplegia, Pro... OMIM:300966
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Hypoton... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Hypoton... ORPHA:363958
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Scoliosis OMIM:259420
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Optic disc coloboma, Hypotonia, Vertebral segmenta... ORPHA:251014
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Cyanosis ORPHA:99106
Criss-Cross Heart
Cyanosis ORPHA:1461
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis ORPHA:2479
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,... ORPHA:233
Graft Versus Host Disease
Skeletal muscle atrophy, Jaundice, Dupuytren contracture, Myositis ORPHA:39812
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Kyphosis, Elevated circulating ... OMIM:300942
Pycnodysostosis
Decreased serum insulin-like growth factor 1, Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, ... ORPHA:763
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Neurogenic bladder, Optic disc pallor, Kyphosis, Flexion contracture, Pr... ORPHA:90324
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Farber Disease
Skeletal muscle atrophy, Spasticity, Flexion contracture, Infantile muscular hypotonia ORPHA:333
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Generalized hypotonia, Abnormal autonomic nervous system physiology, Scoliosis ORPHA:293987
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Neurogenic bladder, Axial hypotonia... ORPHA:191
48,Xxxy Syndrome
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:96263
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Hypotonia, Knee flexion contrac... OMIM:619194
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Hypotonia OMIM:619244
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Spinal arteriov... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Dermatomyositis
Telangiectasia of the skin, Erythema, Hypotonia, Acrocyanosis, Inflammatory myopathy, Cutaneous p... ORPHA:221
Localized Scleroderma
Skeletal muscle atrophy, Erythema, Flexion contracture, Myopathy ORPHA:90289
15Q14 Microdeletion Syndrome
Kyphosis, Scoliosis ORPHA:261190
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Absence Of The Pulmonary Artery
Cyanosis, Abnormal hemidiaphragm morphology, Hypocapnia ORPHA:980
X-Linked Intellectual Disability, Cabezas Type
Kyphosis, Camptodactyly of finger, Scoliosis, Short neck ORPHA:85293
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypotonia, Increased sarcoplasmic glycogen ORPHA:264580
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Scoliosis, Infantile muscular hypotonia, Neonatal hypotonia ORPHA:398069
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent veins on trunk,... ORPHA:536532
Histiocytoid Cardiomyopathy
Cyanosis, Optic atrophy ORPHA:137675
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Fatigable weakness of skeletal muscles, Optic atrophy, Hypotonia, Hypert... ORPHA:284339
Marfan Syndrome
Skeletal muscle atrophy, Kyphosis, Hypotonia, Dural ectasia, Scoliosis, Spondylolisthesis ORPHA:558
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Hypotonia, Scoliosis, Spasticity, Contracture of the proximal interphalangeal joint of ... ORPHA:464738
Fg Syndrome Type 1
Abnormal social behavior, Attention deficit hyperactivity disorder ORPHA:93932
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis ORPHA:1005
Cohen Syndrome
Kyphosis, Optic atrophy, Hypotonia, Scoliosis ORPHA:193
Mucolipidosis Type Ii
Hip contracture, Axial hypotonia, Diastasis recti, Kyphosis, Knee flexion contracture, Appendicul... ORPHA:576
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Kyphosis, Dystonia, Optic atrophy, Knee flexion contracture OMIM:619708
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Axial hypotonia, Kyphoscoliosis, Kyphosis, Hypotonia, Left ventricular noncompaction, Scoliosis, ... OMIM:300967
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Scoliosis OMIM:615895
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Jaundice, Hypotonia, Prolonged neonatal jaundice, Dystonia OMIM:256810
Cowden Syndrome 5
Kyphosis, Subcutaneous lipoma, Scoliosis OMIM:615108
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Generalized hypoto... OMIM:618050
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Kyphosis, Hypotonia, Abnormality of the vertebral column ORPHA:77301
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Abnormality of the tongue muscle, ... ORPHA:273
Harrod Syndrome
Kyphosis, Scoliosis ORPHA:2115
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Alstrom Syndrome
Kyphosis, Hyperinsulinemia, Scoliosis OMIM:203800
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Hyperoxaluria, Primary, Type I
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy OMIM:259900
Cowden Syndrome 6
Kyphosis, Subcutaneous lipoma, Scoliosis OMIM:615109
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb... OMIM:259770
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Smith-Lemli-Opitz Syndrome
Cutis marmorata, Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Kyphosis, Op... ORPHA:818
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Hypotonia, Scoliosis, E... ORPHA:287
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Kyphosis, Scoliosis, Death in childhood OMIM:619005
Mgat2-Cdg
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis ORPHA:79329
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Cyanosis, Block vertebrae OMIM:306955
Coffin-Lowry Syndrome
Cutis marmorata, Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Acrocyanosis OMIM:303600
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx, ... OMIM:249420
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis OMIM:182210
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Spastic diplegia, Generalized hypoto... OMIM:309590
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Kyphoscoliosis, Kyphosis, Infantile muscular hypotonia, Camptodactyly ORPHA:3063
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Fragile skin ORPHA:89842
Cowden Syndrome 1
Kyphosis, Subcutaneous lipoma, Scoliosis OMIM:158350
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hypotonia OMIM:239000
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... ORPHA:2911
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Generalized hypotonia, Limb hypertonia ORPHA:401973
Niemann-Pick Disease Type C
Ataxia, Progressive neurologic deterioration, Chorea, Progressive gait ataxia, Dementia, Cognitiv... ORPHA:646
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Bruising susceptibility ORPHA:77259
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Progeroid facial appearance, Erythema, Flexion ... OMIM:256040
Stickler Syndrome
Skeletal muscle atrophy, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, ... ORPHA:828
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Hypotonia, Optic atrophy, Scoliosis, Neonatal hypot... OMIM:617140
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Hypotonia ORPHA:457359
Lenz-Majewski Hyperostotic Dwarfism
Prematurely aged appearance, Facial palsy, Kyphosis, Hypotonia, Scoliosis ORPHA:2658
Classic Homocystinuria
Kyphosis, Optic atrophy, Urticaria, Scoliosis, Subcutaneous hemorrhage ORPHA:394
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Decreased serum leptin, Premature skin wrinkling, ... ORPHA:740
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Prematurely aged appearance, Telangiectasia... ORPHA:79474
Osteogenesis Imperfecta, Type Iv
Kyphosis, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ankle flexion contracture, Kyphosis, Scoliosis, Flexion contracture of finger,... ORPHA:464311
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Prematurely aged appearance, Progeroid faci... OMIM:216400
Atelis Syndrome 2
Kyphosis, Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Robinow Syndrome, Autosomal Dominant 3
Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Prematurely aged appearance, Progeroid facial appearance, Ab... OMIM:133540
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Spasticity ORPHA:1855
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Prader-Willi Syndrome Due To Translocation
Attention deficit hyperactivity disorder, Abnormal social behavior, Impaired social interactions ORPHA:177907
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Dihydropyrimidine Dehydrogenase Deficiency
Seizure, Febrile seizure (within the age range of 3 months to 6 years), Abnormal social behavior,... ORPHA:1675
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Ramon Syndrome
Optic disc pallor, Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis OMIM:266270
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Camptodactyly of finger, Short neck, Kyphosis, Vertebral segment... ORPHA:1507
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Wrinkly Skin Syndrome
Scapular winging, Progeroid facial appearance, Hypoplasia of the musculature, Kyphosis, Neonatal ... OMIM:278250
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cutaneous photosensitivity, Rhabdomyosarcoma, Short neck ORPHA:647
Cerebrocostomandibular Syndrome
Kyphosis, Spina bifida, Death in infancy ORPHA:1393
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Ectodermal dysplasia OMIM:609944
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Kyphosis, Scoliosis, Abnormality of the cervical ... ORPHA:464306
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Hypotonia, Scoliosis, Hyperlordosis OMIM:617011
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Kyphosis, Scoliosis ORPHA:476126
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Kyphosis, Jaundice, Spastic tetraplegia, Hypotonia, Abnormal curvature of... OMIM:619475
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... ORPHA:48435
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Axial hypotonia, Hyperinsulinemia, ... ORPHA:508
Hajdu-Cheney Syndrome
Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis, Biconcave verte... ORPHA:955
Osteogenesis Imperfecta
Cervical kyphosis, Kyphosis, Flexion contracture, Vertebral compression fracture, Abnormal form o... ORPHA:666
Osteogenesis Imperfecta, Type Viii
Kyphosis, Vertebral compression fracture, Platyspondyly, Scoliosis OMIM:610915
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Orofaciodigital Syndrome Iii
Kyphosis OMIM:258850
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Decreased muscle mass, Kyphosis, Abnormal form of... OMIM:194190
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Scolio... ORPHA:285
Pierson Syndrome
Skeletal muscle atrophy, Hypotonia, Death in childhood OMIM:609049
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Mend Syndrome
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia OMIM:300960
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hypotonia OMIM:222700
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis OMIM:106300
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Optic atrophy, Spinal canal stenosis, Hypotonia, Telangiectasi... ORPHA:1606
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cutis marmorata, Angioedema, Urticaria, Vasculitis in the skin ORPHA:3260
Occipital Horn Syndrome
Kyphosis, Jaundice, Hypotonia, Platyspondyly, Scoliosis, Bruising susceptibility ORPHA:198
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Kyphosis, Abnormal circulating calcium-phosphate regulating hormone concentrati... ORPHA:534
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Erythema, Hypotonia, Urticaria, Platysp... ORPHA:2273
Truncus Arteriosus
Cyanosis, Right ventricular hypertrophy ORPHA:3384
Tuberous Sclerosis Complex
Epileptic spasm, Infantile spasms, Focal-onset seizure, Seizure, Status epilepticus, Abnormal soc... ORPHA:805
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Neonatal hypotonia, Joint... OMIM:309000
Cowden Syndrome
Macroglossia, Kyphosis, Scoliosis, Mucosal telangiectasiae ORPHA:201
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Coffin-Siris Syndrome 1
Sacral dimple, Cutis marmorata, Congenital diaphragmatic hernia, Kyphosis, Hypotonia, Scoliosis, ... OMIM:135900
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Hypotonia, Scoliosis OMIM:619482
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Generalized Arterial Calcification Of Infancy
Fused cervical vertebrae, Cyanosis, Myocardial calcification ORPHA:51608
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Kyphosis, Dural ectasia, Abnormality of the vertebr... ORPHA:97685
Cdags Syndrome
Kyphosis OMIM:603116
Leprosy
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous sys... ORPHA:548
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Occipital Horn Syndrome
Kyphosis, Platyspondyly, Bruising susceptibility, Orthostatic hypotension OMIM:304150
Williams Syndrome
Death in early adulthood, Sacral dimple, Prematurely aged appearance, Hyperlordosis, Kyphosis, Hy... ORPHA:904
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Immunodeficiency 31C
Skeletal muscle atrophy OMIM:614162
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy, Oral motor hypotonia OMIM:219800
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Kyphosis, Flexion contracture, Hypotonia, Knee flexion ... OMIM:259050
Acromegaly
Macroglossia, Kyphosis, Spinal canal stenosis, Elevated circulating growth hormone concentration ORPHA:963
Somatomammotropinoma
Macroglossia, Kyphosis, Spinal canal stenosis, Elevated circulating growth hormone concentration ORPHA:314769
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Kyphosis, Sacral dimple, Hypertonia, Scoliosis ORPHA:268261
Lymphedema-Distichiasis Syndrome
Kyphosis OMIM:153400
Proteus Syndrome
Decreased muscle mass, Kyphosis, Abnormal subcutaneous fat tissue distribution, Abnormal form of ... ORPHA:744
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Aganglionic megacolon, Ankle flexion contracture, Kypho... ORPHA:821
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis ORPHA:85199
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:881
Viss Syndrome
Prominent superficial blood vessels, Kyphosis, Hypotonia, Macroglossia, Scoliosis, Bruising susce... OMIM:619472
Goodpasture Syndrome
Cyanosis OMIM:233450
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Premature graying o... OMIM:113620
Neurofibromatosis Type 1
Kyphosis, Scoliosis ORPHA:636
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae, Hypotonia OMIM:216340
Alström Syndrome
Optic disc pallor, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Elevated circulating thyr... 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 Slc18a3

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 Slc18a3.

No publications found that use IMPC mice or data for Slc18a3.

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