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Gene: Chat MGI:88392

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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:
choline acetyltransferase
Synonyms:
B230380D24Rik

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 Chat 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 Chat by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:98914

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Attention Deficit-Hyperactivity Disorder
Attention deficit hyperactivity disorder, Hyperactivity OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Aggressive behavior, Attention deficit hyperactivity disorder, Motor tics, Impulsivity OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Gilles De La Tourette Syndrome
Phonic tics, Self-mutilation, Aggressive behavior, Attention deficit hyperactivity disorder, Moto... OMIM:137580
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Intellectual Developmental Disorder, Autosomal Recessive 3
Hyperactivity OMIM:608443
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Lower limb muscle weakness, Hand muscle weakness, Hand muscle atrophy, Weaknes... OMIM:607641
Autism, Susceptibility To, 20
Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:618830
Epidermolysis Bullosa With Diaphragmatic Hernia
Congenital diaphragmatic hernia, Neonatal death OMIM:226735
Miyoshi Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Shoulder girdle muscle weakn... ORPHA:45448
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:601472
Congenital Myasthenic Syndromes With Glycosylation Defect
Generalized hypotonia, Generalized weakness of limb muscles, Lumbar hyperlordosis, Abnormal perip... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Prolonged miniature endplate currents, Dysphagia, Decreased miniature endplat... OMIM:616321
Myasthenic Syndrome, Congenital, 13
Hypotonia, Scoliosis, Fatigable weakness, Muscle fiber tubular inclusions OMIM:614750
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy, Hand muscle atrophy OMIM:183020
Hereditary Continuous Muscle Fiber Activity
Type 1 muscle fiber predominance, Congenital diaphragmatic hernia, Ataxia, Spastic gait, Slurred ... ORPHA:972
Diaphragmatic Hernia 5, X-Linked
Congenital diaphragmatic hernia, Neonatal death OMIM:306950
Spastic Paraplegia 18B, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Ankle clonus, Babinski s... OMIM:611225
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Generalized hypotonia, Hypotonia, Type 1 muscle fiber predominance, Limb m... OMIM:603034
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Proximal muscle weakness in lower limbs, Quadriceps muscle weakness, Distal lower limb amyotrophy... ORPHA:482601
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Generalized limb muscle atrophy, Scapular winging, Proximal lower limb amyotrophy, Facial palsy, ... ORPHA:219
Intellectual Developmental Disorder, Autosomal Recessive 37
Bruxism, Aggressive behavior, Hyperactivity OMIM:615493
Spastic Paraplegia 38, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Lower limb muscle weakness, Thenar muscle weakness, Lower ... OMIM:612335
Lethal Congenital Contracture Syndrome 3
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Multiple joint contractures, Neonata... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, First dorsal interossei mu... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Joint contracture of the hand, Distal amyotrophy, Scapuloperoneal amyotrophy, Spinal muscular atr... OMIM:611067
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Bruxism, Aggressive behavior, Hyperactivity ORPHA:356996
Spinal Muscular Atrophy, Scapuloperoneal
Peroneal muscle atrophy, Scapular muscle atrophy, Spinal muscular atrophy OMIM:271220
Juvenile Primary Lateral Sclerosis
Spasticity, Skeletal muscle atrophy, Abnormal upper motor neuron morphology, Spastic gait, Spasti... ORPHA:247604
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Lower limb spasticity, Spa... ORPHA:401785
Postsynaptic Congenital Myasthenic Syndromes
Scoliosis, Skeletal muscle atrophy, Upper limb muscle weakness, Hip flexor weakness, Shoulder gir... ORPHA:98913
Spastic Paraplegia 77, Autosomal Recessive
Lower limb amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Spastic paraplegia OMIM:617046
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Ataxia OMIM:616330
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Smith-Magenis syndrome
Motor stereotypy, Hyperactivity, Self-mutilation DECIPHER:8
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Proximal muscle weakness in lower limbs, Type 2 muscle fiber predominance, Proximal lower limb am... OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal amyotrophy, Distal lower limb amyotrophy, Distal upper limb amyotrophy, Foot dorsiflexor w... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal amyotrophy, Kyphosis, Elbow flexion contracture, Nonprogressive muscular atrophy, Distal l... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Generalized amyotrophy, Hypotonia, Decreased compound muscle action potential amplitude, Myopathy... OMIM:618323
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Neonatal hypotonia, Hypotonia, Limb muscle weakness, Weakness of facial musculature, T... OMIM:608930
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness OMIM:616227
Intellectual Developmental Disorder, X-Linked 72
Motor stereotypy, Hyperactivity OMIM:300271
Congenital Myopathy 23
Nemaline bodies, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness,... OMIM:609285
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Dis... OMIM:605285
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Vocal cord paresis, Distal amyotrophy, Abnormal motor nerve conduction velocity, Tremor, Vocal co... OMIM:158580
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Proximal muscle weakness in upper limbs, Spasticity, Increased endomysial connective tissue, Decr... OMIM:620068
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology, Babinski sign, Spastic gait, Spastic tetraparesis, Spasti... OMIM:611637
Mitochondrial Myopathy With Diabetes
Weakness of orbicularis oculi muscle, Generalized hypotonia, Hypotonia, Limb muscle weakness, Rag... OMIM:500002
Spastic Paraplegia 42, Autosomal Dominant
Spastic gait, Spastic paraplegia, Skeletal muscle atrophy OMIM:612539
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraplegia, Optic atrophy, Knee... OMIM:615043
Autosomal Recessive Spastic Paraplegia Type 63
Scissor gait, Spasticity, Skeletal muscle atrophy, Hypertonia ORPHA:401805
Spastic Paraplegia 57, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Hand muscle atrophy, Lower limb spasticity, Lower limb amyotrophy OMIM:615658
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Foot dorsiflexor weakness, Spinal muscular atrophy OMIM:614881
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Abnormal anterior horn cell morphology, Generalized hypotonia, Facial di... OMIM:611890
Myopathy, Distal, With Rimmed Vacuoles
Rimmed vacuoles, Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Z-band ... OMIM:617158
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lethal Congenital Contracture Syndrome 4
Distal arthrogryposis, Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture OMIM:614915
Spinal Muscular Atrophy, Infantile, James Type
Increased variability in muscle fiber diameter, Distal amyotrophy, Lower limb muscle weakness, Ge... OMIM:619042
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Optic atrophy, Distal amyotrophy, Generalized hypotonia, Progressive spastic paraparesis, Foot do... ORPHA:496756
Spinal Muscular Atrophy, Type Iii
Shoulder girdle muscle atrophy, Distal amyotrophy, Lower limb muscle weakness, Shoulder girdle mu... OMIM:253400
Bethlem Myopathy 2
Increased variability in muscle fiber diameter, Generalized hypotonia, Hypotonia, Myopathy, Scapu... OMIM:616471
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Generalized hypotonia, Generalized hypotonia due to defect at the neuromuscular junction, Limb mu... OMIM:605809
Lethal Congenital Contracture Syndrome 8
Distal amyotrophy, Facial diplegia, Death in infancy, Neonatal death, Distal arthrogryposis, Voca... OMIM:616287
Spastic Paraplegia 62, Autosomal Recessive
Spasticity, Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Spastic gait OMIM:615681
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Neonatal hypotonia, Hypo... OMIM:616313
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Myosclerosis, Autosomal Recessive
Spinal rigidity, Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Achilles... OMIM:255600
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Spastic Paraplegia 31, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lower... OMIM:610250
Megalencephalic Leukoencephalopathy With Subcortical Cysts 4, Remitting
Dysphagia, Gait ataxia, Hyperactivity, Impulsivity OMIM:620448
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Claw hand deformity, Optic... OMIM:618511
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Dystonia, Scoliosis OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic atrophy, Foot dorsiflexor weakness, Lower limb amyotrophy, Optic disc pallor, Scoliosis, Ky... OMIM:617087
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Rimmed vacuoles, Increased variability in muscle fiber diameter, Muscle fiber intracytoplasmic re... OMIM:300718
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Paralysis, Parkinsonism, Amyotrophic lateral sclerosis OMIM:105500
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Distal upper limb amyotrophy, Distal lower limb amyotrophy, T... ORPHA:101075
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Distal lower limb muscle weakness, Skeletal muscle atrophy OMIM:615025
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:617760
Spinal Muscular Atrophy, Type Iv
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:271150
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Spasticity, Distal amyotrophy, Spastic paraparesis, Generalized hypoto... ORPHA:320370
Gne Myopathy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Shoulder girdle muscle atrophy, ... ORPHA:602
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Intellectual Developmental Disorder, X-Linked 109
Stereotypical body rocking, Recurrent hand flapping, Agitation, Aggressive behavior, Hyperactivit... OMIM:309548
Fraxe Intellectual Disability
Stereotypical body rocking, Recurrent hand flapping, Impulsivity, Aggressive behavior, Hyperactiv... ORPHA:100973
Amyotrophic Lateral Sclerosis Type 4
Spastic paraplegia, Skeletal muscle atrophy ORPHA:357043
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Optic atrophy, Spasticity, Distal amyotrophy, Generalized hypotonia, Foot dorsiflexor weakness, S... OMIM:617207
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Aggressive behavior, Hyperactivity OMIM:619031
Neuropathy, Congenital Hypomyelinating, 2
Distal amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Hypotonia,... OMIM:618184
Spastic Paraplegia 63, Autosomal Recessive
Spastic paraplegia, Scissor gait, Skeletal muscle atrophy, Hypertonia OMIM:615686
Idiopathic Camptocormia
Myelitis, Amyotrophic lateral sclerosis, Fatigable weakness of skeletal muscles, Proximal spinal ... ORPHA:1320
Inclusion Body Myositis
Rimmed vacuoles, Skeletal muscle atrophy, Quadriceps muscle weakness, Inflammatory myopathy, Ragg... ORPHA:611
Spastic Paraplegia 73, Autosomal Dominant
Spastic paraplegia, Skeletal muscle atrophy OMIM:616282
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Scoliosis, Vocal cord paralysis ORPHA:640
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Nemaline Myopathy 5C, Autosomal Dominant
Nemaline bodies, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weakness,... OMIM:620389
Intellectual Developmental Disorder, X-Linked 82
Scoliosis, Kyphosis OMIM:300518
Nonaka Myopathy
Rimmed vacuoles, Deposits immunoreactive to beta-amyloid protein, Distal amyotrophy, Distal lower... OMIM:605820
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity OMIM:301008
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Type 2 mus... OMIM:254210
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Distal amyotrophy, Interosseus muscle atrophy, Spinal muscular atrophy, Distal lower limb muscle ... OMIM:607088
Bethlem Myopathy 1A
Ankle flexion contracture, Skeletal muscle atrophy, Neonatal hypotonia, Camptodactyly of finger, ... OMIM:158810
Autosomal Recessive Spastic Paraplegia Type 76
Scoliosis, Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness ORPHA:488594
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Hypotonia, Foot... OMIM:619216
Lethal Congenital Contracture Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Neonatal death, Widening of cervical spin... OMIM:253310
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Hypo... OMIM:613204
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials OMIM:608673
Dysequilibrium Syndrome
Hypotonia, Skeletal muscle atrophy ORPHA:1766
Myasthenic Syndrome, Congenital, 14
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Hypot... OMIM:616228
Nemaline Myopathy 10
Nemaline bodies, Congenital contracture, Skeletal muscle atrophy, Generalized hypotonia, Death in... OMIM:616165
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Upper limb muscle weakness, Lower limb muscle weakness, Fatigable weakness, Hand muscle atrophy, ... OMIM:601462
Perching Syndrome
Camptodactyly, Scoliosis, Cyanosis, Joint contracture OMIM:617055
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Decreased nerve conduction velocity, Tremor, Ataxia, Scoliosis, Kyphosis ORPHA:101078
Rigid Spine Syndrome
Skeletal muscle atrophy, Generalized hypotonia, Elbow flexion contracture, Hamstring contractures... ORPHA:97244
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Fasciculations, Limb ataxia, Gait ataxia, Myoclonus, Abnormal lower motor neuron morphology, Abno... ORPHA:95434
Infantile-Onset X-Linked Spinal Muscular Atrophy
Ankle flexion contracture, Skeletal muscle atrophy, Interphalangeal joint contracture of finger, ... ORPHA:1145
Myopathy, X-Linked, With Postural Muscle Atrophy
Rimmed vacuoles, Increased variability in muscle fiber diameter, Spinal rigidity, Skeletal muscle... OMIM:300696
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Ankle... OMIM:117000
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spasticity, Aplasia of the left hemidiaphragm, Scoliosis, Spastic tetraplegia, Cho... OMIM:618238
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Facial diplegia, Knee flexion contracture, Paralysis, Distal arthrogryposis OMIM:616286
Primary Lateral Sclerosis, Juvenile
Pseudobulbar paralysis, Abnormal upper motor neuron morphology, Decreased compound muscle action ... OMIM:606353
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... OMIM:607706
Hereditary Myopathy With Early Respiratory Failure
Rimmed vacuoles, Increased variability in muscle fiber diameter, Necrotizing myopathy, Skeletal m... ORPHA:178464
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Flexion contracture, Skeletal muscle atrophy, Spasticity OMIM:611105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Distal amyotrophy, Compound muscle action potential amplitude facilitation, Decreased compound mu... OMIM:616040
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Z-band stream... OMIM:618655
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Optic atrophy, Quadriceps muscle weakness, Hand tremor, Frequent falls, Hand muscle weakness, Pos... ORPHA:99947
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Myopathy, Distal, 5
Rimmed vacuoles, Distal amyotrophy, Myopathy, Weakness of facial musculature, Distal lower limb m... OMIM:617030
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:613954
Myopathy, Centronuclear, 1
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in upper limbs, Generalized ... OMIM:160150
Spastic Paraplegia 70, Autosomal Recessive
Spasticity, Scoliosis, Skeletal muscle atrophy, Achilles tendon contracture OMIM:620323
X-Linked Charcot-Marie-Tooth Disease Type 3
Proximal muscle weakness in lower limbs, Distal amyotrophy, Spastic paraparesis, Decreased motor ... ORPHA:101077
Spastic Paraplegia 2, X-Linked
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Spinocerebellar tract degeneration, L... OMIM:312920
Spinal Muscular Atrophy, X-Linked 2
Scoliosis, Hypotonia, Decreased compound muscle action potential amplitude, Multiple joint contra... OMIM:301830
Muscular Dystrophy, Congenital, 1B
Spinal rigidity, Sternocleidomastoid amyotrophy, Muscular dystrophy, Shoulder girdle muscle weakn... OMIM:604801
Parastremmatic Dwarfism
Short neck, Scoliosis, Kyphosis, Flexion contracture OMIM:168400
Autosomal Spastic Paraplegia Type 30
Distal amyotrophy, Leg muscle stiffness, Progressive spastic paraplegia, Scissor gait, Lower limb... ORPHA:101010
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myopathy, Scapulohumeroperoneal
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:616852
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Myopathy, Distal, 4
Skeletal muscle atrophy, Thenar muscle weakness, Distal lower limb amyotrophy, Distal upper limb ... OMIM:614065
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amyotrophic Lateral Sclerosis 9
Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:611895
Distal Hereditary Motor Neuropathy Type 5
Distal amyotrophy, Upper limb muscle weakness, Thenar muscle weakness, Abnormal motor nerve condu... ORPHA:139536
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Paralysis, Athetosis, Gliosis, Amyotrophic lateral sclerosis OMIM:300857
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Minicore myopathy, Increased variability in muscle fiber diameter, Nemaline bodies, Elbow contrac... OMIM:620386
Nemaline Myopathy 6
Nemaline bodies, Skeletal muscle atrophy, Limb muscle weakness, Myopathy, Facial palsy OMIM:609273
Amyotrophic Lateral Sclerosis 2, Juvenile
Spasticity, Amyotrophic lateral sclerosis, Hand muscle atrophy, Spasticity of facial muscles, Opi... OMIM:205100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Shoulder girdle muscle atrophy, Muscular dystrophy, Skeletal muscle atrophy, Kyphosis, Neonatal h... OMIM:606612
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, T... OMIM:615575
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Gait ataxia, Congenital diaphragmatic hernia ORPHA:438134
Welander Distal Myopathy
Rimmed vacuoles, Distal amyotrophy OMIM:604454
X-Linked Charcot-Marie-Tooth Disease Type 5
Abnormal nerve conduction velocity, Optic atrophy, Tremor, Paraparesis, Ataxia, Scoliosis, Kyphos... ORPHA:99014
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Hypotonia, Proximal amyotrophy, Lower limb spasticity, Hyperlordosis, Scoliosis, Kyphosis, Spinal... OMIM:617404
Microphthalmia, Syndromic 12
Congenital diaphragmatic hernia, Neonatal death OMIM:615524
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Lower-limb joint contracture, Paralysis, Skeletal muscle atrophy OMIM:613710
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Fatig... ORPHA:2593
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Distal amyotrophy, Decreased motor nerve conduction velocity, Neonatal hypotonia, Upper limb musc... OMIM:605253
Myasthenic Syndrome, Congenital, 16
Periodic paralysis, Hyperlordosis, Fatigable weakness OMIM:614198
Spastic Paraplegia 45, Autosomal Recessive
Spastic paraplegia, Optic atrophy, Skeletal muscle atrophy, Lower limb spasticity, Spastic gait, ... OMIM:613162
Spinal Muscular Atrophy, Ryukyuan Type
Proximal amyotrophy, Spinal muscular atrophy, Kyphoscoliosis OMIM:271200
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb muscle weakness, D... OMIM:613287
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Distal amyotrophy, Decreased motor nerve conduction velocity, Claw hand deformity, Foot dorsiflex... OMIM:605726
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Proximal muscle weakness in lower limbs, Lower limb muscle weakness, Fasciculations, Hip contract... OMIM:615290
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Generalized hypotonia, Hypotonia, Fatigable weakn... OMIM:608931
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Spinal rigidity, Increased variability in muscle fiber diameter, Proximal muscle weakness in uppe... OMIM:619566
Charcot-Marie-Tooth Disease Type 4A
Vocal cord paresis, Joint contracture of the hand, Distal amyotrophy, Quadriceps muscle weakness,... ORPHA:99948
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Increased endomysial connective tissue, Skeletal ... OMIM:620542
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Proximal amyotrophy, Distal amyotrophy, Spinal muscular atrophy OMIM:182980
Neuropathy, Hereditary, With Liability To Pressure Palsies
Froment sign, Decreased motor nerve conduction velocity, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Progressive spastic paraplegia, Knee flexion contracture... ORPHA:496689
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Glut1 Deficiency Syndrome 1
Spasticity, Myoclonus, Hemiparesis, Babinski sign, Paralysis, Ataxia, Choreoathetosis OMIM:606777
Developmental And Epileptic Encephalopathy 43
Attention deficit hyperactivity disorder, Hyperactivity, Impulsivity, Ataxia OMIM:617113
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Tetraparesis, Abnormal lower motor neuron... OMIM:105550
Spinal Muscular Atrophy, Type I
Proximal muscle weakness in lower limbs, Generalized hypotonia, Death in childhood, Spinal muscul... OMIM:253300
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Rimmed vacuoles, Shoulder girdle muscle atrophy, Pelvic girdle muscle atrophy, Distal amyotrophy,... OMIM:167320
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Progressive distal muscular atrophy, Skeletal muscle atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Nemaline bodies, Increased variability in muscle fiber diameter, Increased endomysial connective ... OMIM:620265
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:617892
Amyotrophic Lateral Sclerosis 18
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:614808
Mitochondrial Complex I Deficiency, Nuclear Type 15
Optic atrophy, Kyphosis, Generalized hypotonia, Myopathy, Neonatal death, Dystonia, Flexion contr... OMIM:618237
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Congenital diaphragmatic hernia, Hypertonia, Vertebral segmentation defect ORPHA:1166
Roussy-Lévy Syndrome
Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Lower limb... ORPHA:3115
Classic Glucose Transporter Type 1 Deficiency Syndrome
Spasticity, Chorea, Myoclonus, Hemiparesis, Paralysis, Apraxia, Hypertonia, Ataxia, Choreoathetos... ORPHA:71277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Generalized hypotonia, Distal amyotrophy, Kyphoscoliosis OMIM:619099
Congenital Myopathy With Myasthenic-Like Onset
Minicore myopathy, Infantile axial hypotonia, Type 1 muscle fiber predominance, Multiple joint co... ORPHA:424107
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Spasticity, Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:602099
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Nemaline bodies, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb muscle ... OMIM:607684
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Distal amyotrophy, Amyotrophic lateral sclerosis OMIM:205200
Myopathy, X-Linked, With Excessive Autophagy
Proximal muscle weakness in lower limbs, Skeletal muscle autophagosome accumulation, Skeletal mus... OMIM:310440
Nemaline Myopathy 2
Increased variability in muscle fiber diameter, Neonatal hypotonia, Limb muscle weakness, Muscle ... OMIM:256030
Ullrich Congenital Muscular Dystrophy
Spinal rigidity, Increased variability in muscle fiber diameter, Increased endomysial connective ... ORPHA:75840
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Hypotonia, Cyanosis, Myopathy ORPHA:91130
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:302801
Hyperprolinemia, Type I
Aggressive behavior, Motor stereotypy, Hyperactivity, Ataxia OMIM:239500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Decrease... OMIM:609260
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Incre... OMIM:618484
Frontotemporal Dementia With Motor Neuron Disease
Generalized amyotrophy, Tetraparesis, Fasciculations, Abnormal upper motor neuron morphology, Abn... ORPHA:275872
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Spastic Paraplegia 64, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy OMIM:615683
Hereditary Motor And Sensory Neuropathy V
Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, F... OMIM:600361
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Arthrogryposis multiplex congenita, Congenital contracture, Myopathy, Skeletal muscle atrophy OMIM:208100
Congenital Muscular Dystrophy Without Intellectual Disability
Muscular dystrophy, Neonatal hypotonia, Generalized hypotonia, Reduced muscle fiber alpha dystrog... ORPHA:370980
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Foot dorsiflexor weakness, Distal amyotrophy, Decreased motor nerve conduction velocity, Upper li... OMIM:607678
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:618129
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... ORPHA:86812
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Prenatal death, Neonatal death, Short neck, Camptodactyly, Arthrogryposi... OMIM:618393
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Increased variability in muscle fiber diameter, Limb-girdle muscular dystrophy, Proximal muscle w... ORPHA:206549
Fetal Encasement Syndrome
Congenital diaphragmatic hernia, Omphalocele OMIM:613630
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Amyotrophic Lateral Sclerosis 1
Spasticity, Amyotrophic lateral sclerosis, Skeletal muscle atrophy, Degeneration of anterior horn... OMIM:105400
Intellectual Developmental Disorder, X-Linked 111
Phonic tics, Aggressive behavior, Hyperactivity, Compulsive behaviors, Unsteady gait OMIM:301107
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Ankle flexion contracture, Distal amyotrophy, Neonatal hypotonia, Generalized hypotonia, Hypotoni... OMIM:617519
Amyotrophic Lateral Sclerosis 16, Juvenile
Weakness of the intrinsic hand muscles, Lower limb spasticity, Amyotrophic lateral sclerosis, Low... OMIM:614373
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Congenital diaphragmatic hernia, Omphalocele ORPHA:2141
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Spasticity, Distal amyotrophy, Decreased circulating gona... OMIM:215470
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
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Death in childhood, Spinal muscular atrophy, Joint contracture, Spastic ... OMIM:616081
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Hypotonia, Skeletal muscle atrophy ORPHA:868
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Rimmed vacuoles, Increased variability in muscle fiber diameter, Abnormality of the vertebral col... ORPHA:52430
Myopathy, Sarcoplasmic Body
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620286
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Myasthenic Syndrome, Congenital, 12
Proximal amyotrophy, Ragged-red muscle fibers, Fatigable weakness, Facial palsy OMIM:610542
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Hypotonia, Myopathy, Death in infancy, Hyperlordosis, Flexion contractur... ORPHA:157973
Typical Nemaline Myopathy
Increased variability in muscle fiber diameter, Nemaline bodies, Scoliosis, Neonatal hypotonia, F... ORPHA:171436
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Hypotonia, Scoliosis, Skeletal muscle atrophy ORPHA:1188
Hartnup Disorder
Attention deficit hyperactivity disorder, Hyperactivity, Episodic ataxia OMIM:234500
Horizontal Gaze Palsy With Progressive Scoliosis
Short neck, Scoliosis, Kyphosis ORPHA:2744
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Increased variability in muscle fiber diameter, Proximal muscle weakness in upper limbs, Proximal... OMIM:618138
Spastic Paraplegia 46, Autosomal Recessive
Spastic paraplegia, Hand tremor, Lower limb muscle weakness, Head tremor, Limb dysmetria, Limb mu... OMIM:614409
Fried Syndrome
Hypotonia, Scoliosis, Skeletal muscle atrophy, Spastic diplegia ORPHA:85335
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:254110
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Autosomal Recessive Spondylocostal Dysostosis
Abnormal form of the vertebral bodies, Camptodactyly of finger, Umbilical hernia, Congenital diap... ORPHA:2311
Autosomal Dominant Spastic Paraplegia Type 41
Progressive spastic paraplegia, Hand muscle weakness, Spinal cord lesion, Lower limb spasticity, ... ORPHA:320355
Charcot-Marie-Tooth Disease, Type 4B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Abnormal auditory evoked potentials... OMIM:601382
Neuralgic Amyotrophy
Acrocyanosis, Upper limb muscle weakness, Scapular winging, Upper limb amyotrophy ORPHA:2901
Amyotrophic Lateral Sclerosis 28
Rimmed vacuoles, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness,... OMIM:620452
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis OMIM:615376
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Hypotonia, Distal amyotrophy ORPHA:1216
Mitochondrial Myopathy And Sideroblastic Anemia
Generalized limb muscle atrophy, Hypotonia, Myopathy, Scoliosis, Kyphosis ORPHA:2598
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Calf muscle hypoplasia, Decreased amplitude of sensory action potentials, Decreased nerve conduct... ORPHA:90103
Spastic Paralysis, Infantile-Onset Ascending
Spastic paraplegia, Abnormal lower motor neuron morphology, Babinski sign, Tetraplegia, Achilles ... OMIM:607225
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Spasticity, Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia OMIM:618276
Chiari Malformation Type Ii
Cervical myelopathy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Cyanosis, Syringomye... OMIM:207950
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Limb-girdle muscular dystrophy, Fatigable weakness of skeletal muscles, Reduced muscle fiber alph... ORPHA:206559
Xp22.13P22.2 Duplication Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Short neck, Scoliosis, Slowed slurred speech ORPHA:284180
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Hand mu... OMIM:608323
Severe X-Linked Mitochondrial Encephalomyopathy
Severe muscular hypotonia, Increased variability in muscle fiber diameter, Skeletal muscle atroph... ORPHA:238329
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Proximal 16P11.2 Microduplication Syndrome
Tremor, Scoliosis, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:370079
Autosomal Dominant Spastic Paraplegia Type 42
Progressive spastic paraplegia, Lower limb muscle weakness, Spinal cord lesion, Lower limb spasti... ORPHA:171863
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Congenital diaphragmatic hernia, Omphalocele, Abnormality of the diaphragm OMIM:601163
Acute Peripheral Arterial Occlusion
Paralysis, Limb muscle weakness ORPHA:90064
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Proximal amyotrophy, Amyotrophic lateral sclerosis OMIM:608030
Machado-Joseph Disease Type 3
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276244
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Distal amyotrophy, Decreased motor nerve conduction velocity OMIM:605589
Hypokalemic Periodic Paralysis
Periodic hypokalemic paresis, Respiratory paralysis, Paralysis, Increased intramyocellular lipid ... ORPHA:681
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Spasticity, Limb ataxia, Gait ataxia, Dysmetria, Abnormality of extrapyramidal mot... OMIM:610743
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Limb myoclonus, Lower limb muscle weakness, Frequent falls, Myoclonus, Tremor, Abnormal lower mot... ORPHA:2590
Greig Cephalopolysyndactyly Syndrome
Congenital diaphragmatic hernia, Umbilical hernia ORPHA:380
Combined Oxidative Phosphorylation Deficiency 6
Hypotonia, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:300816
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic atrophy, Spastic paraplegia, Distal amyotrophy, Ankle clonus, Babinski sign, Exaggerated st... OMIM:609541
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Finger joint contracture, Chorea, Abnormality of peripheral nerve conduction, Dysmetria, Intentio... ORPHA:48431
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Unfavorable response of muscle weakness to acetylcholine esterase inhibi... ORPHA:98915
Myopathic Ehlers-Danlos Syndrome
Increased variability in muscle fiber diameter, Joint contracture of the hand, Poor wound healing... ORPHA:536516
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Unfavorable response of muscle weakness to acetylcholine esteras... ORPHA:3417
Congenital Diaphragmatic Hernia
Congenital diaphragmatic hernia, Aplasia/Hypoplasia of the diaphragm ORPHA:2140
Osteomesopyknosis
Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies, Kyphosis ORPHA:2777
Primary Lateral Sclerosis
Spasticity, Spastic gait, Progressive spastic paraparesis, Abnormal upper motor neuron morphology... ORPHA:35689
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253700
Acromesomelic Dysplasia, Maroteaux Type
Vertebral wedging, Abnormal form of the vertebral bodies, Beaking of vertebral bodies, Hyperlordo... ORPHA:40
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... ORPHA:101081
Autosomal Dominant Spastic Paraplegia Type 17
Distal amyotrophy, Abnormality of the foot musculature, Hand muscle weakness, Abnormal motor nerv... ORPHA:100998
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Shoulder girdle muscle atrophy, Muscular dystrophy, Pelvic girdle muscle atrophy, Proximal amyotr... OMIM:604286
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Abnormality of the spinocerebellar tracts, Limb muscle weakness, Fatigab... ORPHA:329336
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Bruising susceptibility, Myopathy, Kyphoscoliosis, Severe muscular hypot... ORPHA:300179
Amyotrophic Lateral Sclerosis 21
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Rimme... OMIM:606070
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Spasticity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612069
Myopathy, Centronuclear, 2
Centrally nucleated skeletal muscle fibers, Kyphosis, Neonatal hypotonia, Hyperlordosis, Scapular... OMIM:255200
Morm Syndrome
Aggressive behavior, Hyperactivity ORPHA:75858
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Distal amyotrophy, Decreased motor nerve conduction velocity, Upper limb muscle weakness, Foot do... OMIM:605588
Amyotrophic Lateral Sclerosis 4, Juvenile
Distal amyotrophy, Amyotrophic lateral sclerosis, Decreased compound muscle action potential ampl... OMIM:602433
Congenital Myopathy 3 With Rigid Spine
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:602771
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Myopathy And Diabetes Mellitus
Sternocleidomastoid amyotrophy, Weakness of orbicularis oculi muscle, Neonatal hypotonia, Shoulde... ORPHA:2596
Glycine Encephalopathy 1
Aggressive behavior, Restlessness, Hyperactivity, Impulsivity OMIM:605899
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Spastic paraplegia, Spasticity, Distal amyotrophy, Decreased motor nerve conduction velocity, Pro... ORPHA:139578
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Congenital Myopathy 1B, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Minic... OMIM:255320
Congenital Multicore Myopathy With External Ophthalmoplegia
Increased variability in muscle fiber diameter, Muscular dystrophy, Nemaline bodies, Sternocleido... ORPHA:98905
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Distal Nebulin Myopathy
Sternocleidomastoid amyotrophy, Nemaline bodies, Ankle flexion contracture, Foot dorsiflexor weak... ORPHA:399103
Cap Myopathy
Increased variability in muscle fiber diameter, Lower limb muscle weakness, Generalized hypotonia... ORPHA:171881
Myasthenic Syndrome, Congenital, 10
Proximal amyotrophy, Fatigable weakness, Distal amyotrophy, Weakness of facial musculature OMIM:254300
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Hypotonia, Rigidity, Dystonia, Scoliosis OMIM:618239
Spastic Paraplegia 17, Autosomal Dominant
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Lower limb musc... OMIM:270685
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Distal amyotrophy, Upper limb muscle weakness, Lower limb muscle weakness, Angulated muscle fiber... OMIM:608340
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Facioscapulohumeral Muscular Dystrophy 1
Shoulder girdle muscle atrophy, Scapulohumeral muscular dystrophy, Skeletal muscle atrophy, Shoul... OMIM:158900
Scapuloperoneal Myopathy, X-Linked Dominant
Forearm supination contracture, Skeletal muscle atrophy, Scapuloperoneal myopathy, Lower limb mus... OMIM:300695
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Hypotonia, Skeletal muscle atrophy, Ragged-red muscle... ORPHA:480
Myopathy, Myofibrillar, 7
Increased variability in muscle fiber diameter, Nemaline bodies, Type 2 muscle fiber predominance... OMIM:617114
Pure Mitochondrial Myopathy
Quadriceps muscle weakness, Shoulder girdle muscle weakness, Lumbar hyperlordosis, Hypotonia, Rha... ORPHA:254854
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Spina bifida ORPHA:63862
Scapuloperoneal Spinal Muscular Atrophy
Progressive distal muscular atrophy, Peroneal muscle atrophy, Kyphosis, Scapular muscle atrophy, ... OMIM:181405
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Aggressive behavior, Broad-based gait, Motor stereotypy, Hyperactivity OMIM:619470
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Muscular dystrophy, Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture OMIM:613723
Intellectual Developmental Disorder, Autosomal Dominant 67
Compulsive behaviors, Attention deficit hyperactivity disorder, Motor tics, Hyperactivity OMIM:619927
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Vocal cord paresis, Distal amyotrophy, Decreased motor nerve conduction velocity, Skeletal muscle... OMIM:614895
Halperin-Birk Syndrome
Optic atrophy, Pseudobulbar paralysis, Umbilical hernia, Congenital diaphragmatic hernia, Death i... OMIM:618651
Machado-Joseph Disease Type 1
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276238
Machado-Joseph Disease Type 2
Spasticity, Skeletal muscle atrophy, Spinocerebellar tract degeneration, Distal lower limb amyotr... ORPHA:276241
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Acrocyanosis, Skeletal muscle atrophy ORPHA:2400
Intellectual Disability-Developmental Delay-Contractures Syndrome
Distal amyotrophy, Kyphosis, Oculomotor apraxia, Scoliosis, Congenital foot contractures ORPHA:3454
Craniofrontonasal Dysplasia
Scoliosis, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1520
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Axial hypotonia, Appendicular hypotonia, Kyphosis, Facial myokymia OMIM:620007
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Generalized hypotonia, Hypotonia, Limb muscle weakness, Ragged-red muscle fibers, Facial diplegia... OMIM:609560
Phosphoserine Aminotransferase Deficiency
Death in infancy, Cyanotic episode, Hypertonia OMIM:610992
Leber Optic Atrophy And Dystonia
Optic atrophy, Spasticity, Skeletal muscle atrophy, Dystonia, Scoliosis OMIM:500001
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Oculogyric crisis, Skeletal muscle atrophy, Dystonia, Scoliosis ORPHA:330050
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Rimmed vacuoles, Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Proxima... ORPHA:98855
Tonne-Kalscheuer Syndrome
Spasticity, Congenital diaphragmatic hernia, Tremor OMIM:300978
Charcot-Marie-Tooth Disease Type 2B1
Peroneal muscle atrophy, Proximal muscle weakness in lower limbs, Toe extensor amyotrophy, Should... ORPHA:98856
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle atrophy, Generalized limb musc... OMIM:608358
Coffin-Siris Syndrome 3
Umbilical hernia, Inguinal hernia, Macroglossia, Scoliosis, Central diaphragmatic hernia OMIM:614608
Myasthenic Syndrome, Congenital, 20, Presynaptic
Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Facia... OMIM:617143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Ragged-red muscle fibers, Scapular winging, Weakness of facial musculature OMIM:617069
Amyotrophic Lateral Sclerosis 20
Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy, Amyotrophic lateral sclerosis OMIM:615426
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Kyphosis, Squared-off platyspondyly, Intervertebral space narrowing, Thoracic scol... OMIM:271530
X-Linked Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Short neck, Sp... ORPHA:98863
Brown-Vialetto-Van Laere Syndrome 2
Optic atrophy, Generalized hypotonia, Hypotonia, Limb muscle weakness, Kyphoscoliosis, Facial pal... OMIM:614707
Spastic Paraplegia 76, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, S... OMIM:616907
Spastic Paraplegia 5A, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Upper limb muscle weakness, Lower limb ... OMIM:270800
Proximal 16P11.2 Microdeletion Syndrome
Abnormal vertebral morphology, Speech apraxia, Congenital diaphragmatic hernia, Syringomyelia, Sc... ORPHA:261197
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Distal amyotrophy, Upper limb muscle weakness, Decreased nerve conduction velocity, Foot dorsifle... OMIM:302802
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Increased variability in muscle fiber diameter, Muscular dystrophy, Skeletal muscle atrophy, Fatt... OMIM:608807
Cooper-Jabs Syndrome
Umbilical hernia, Scoliosis, Congenital diaphragmatic hernia, Camptodactyly of finger ORPHA:1488
Amyotrophic Lateral Sclerosis
Progressive distal muscular atrophy, Spasticity, Skeletal muscle atrophy, Upper limb muscle weakn... ORPHA:803
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Vertebral segmentation defect ORPHA:1120
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Decreased nerve conduction velocity, Spasticity, Skeletal muscle atrophy, Rigidity OMIM:183050
Mitochondrial Complex I Deficiency, Nuclear Type 31
Hypotonia, Skeletal muscle atrophy, Death in childhood OMIM:618251
Congenital Myasthenic Syndrome
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Distal amyotrophy, Arthrogryposis multiplex congenita, Neuropathic spinal arthropathy, Muscle fib... ORPHA:98914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Muscle fiber splitting, Skele... OMIM:253601
Myopathy, Myofibrillar, 3
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dista... OMIM:609200
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Camptodactyly, Kyphosis OMIM:618453
Intermediate Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Seve... ORPHA:171433
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Generalized hypotonia, Lumbar hyperlordosis, Hypotonia, Lower limb spasticity, Dystonia, Scoliosi... OMIM:616756
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Hereditary Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Aids Wasting Syndrome
Abnormal gonadotropin-releasing hormone concentration, Skeletal muscle atrophy ORPHA:90081
Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Proximal muscle weakness in lower limbs, Limb-girdle muscular dystrophy, Myopathy, Spinal rigidit... ORPHA:98853
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Arthrogryposis-like hand anomaly, Skeletal muscle atrophy, Hypotonia, Foot dorsiflexor weakness, ... OMIM:620011
Donnai-Barrow Syndrome
Congenital diaphragmatic hernia, Omphalocele, Umbilical hernia ORPHA:2143
15Q24 Microdeletion Syndrome
Hernia, Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:94065
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Gait ataxia, Dysmetria, Gait disturbance, Hyperactivity OMIM:618090
Charcot-Marie-Tooth Disease Type 1B
Decreased nerve conduction velocity, Scoliosis, Skeletal muscle atrophy, Skeletal muscle hypertrophy ORPHA:101082
Congenital Myopathy 19
Congenital contracture, Skeletal muscle atrophy, Generalized hypotonia, Infantile axial hypotonia... OMIM:618578
Ullrich Congenital Muscular Dystrophy 2
Increased variability in muscle fiber diameter, Muscular dystrophy, Neonatal hypotonia, Kyphoscol... OMIM:616470
Familial Cervical Artery Dissection
Paralysis, Facial palsy, Abnormality of connective tissue ORPHA:36382
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb muscle weakness, Angulated muscle fibers, Quadriceps muscle atrophy, Intrinsic hand mu... OMIM:620285
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Decreased nerve conduction velocity, Severe muscular hypotonia, Dystonia... OMIM:614932
Gillessen-Kaesbach-Nishimura Syndrome
Short neck, Flexion contracture, Congenital diaphragmatic hernia, Omphalocele OMIM:263210
Isolated Anencephaly
Congenital diaphragmatic hernia, Omphalocele ORPHA:563609
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Shoul... OMIM:619178
Masa Syndrome
Spastic paraplegia, Paraplegia, Lower limb spasticity, Hyperlordosis, Kyphosis OMIM:303350
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Foot dorsiflexor weakness, Neuromyotonia OMIM:137200
Jansen-De Vries Syndrome
Hyperlordosis, Central diaphragmatic hernia OMIM:617450
Guanidinoacetate Methyltransferase Deficiency
Self-injurious behavior, Aggressive behavior, Hyperactivity, Ataxia, Athetosis ORPHA:382
Pontocerebellar Hypoplasia Type 1
Optic atrophy, Spasticity, Skeletal muscle atrophy, Hypotonia, Arthrogryposis multiplex congenita... ORPHA:2254
Zaki Syndrome
Congenital diaphragmatic hernia, Hypertonia, Spastic gait, Scoliosis, Sacral dimple OMIM:619648
Ullrich Congenital Muscular Dystrophy 1A
Spinal rigidity, Increased variability in muscle fiber diameter, Muscular dystrophy, Neonatal hyp... OMIM:254090
13Q12.3 Microdeletion Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Kyphoscoliosis ORPHA:412035
Congenital Myopathy 10B, Mild Variant
Minicore myopathy, Increased variability in muscle fiber diameter, Rimmed vacuoles, Increased end... OMIM:620249
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle weakness, Decreased nerve ... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased amplitude of sensory acti... OMIM:616688
Oxoglutarate Dehydrogenase Deficiency
Hypotonia, Death in childhood, Rigidity, Dystonia, Generalized amyotrophy OMIM:203740
Congenital Myopathy 15
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Weakness of fac... OMIM:620161
Miyoshi Muscular Dystrophy 1
Deposits immunoreactive to beta-amyloid protein, Muscular dystrophy, Distal amyotrophy, Lower lim... OMIM:254130
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Skeletal muscle atrophy, Myoclonus, Ataxia, Anterior beaking of lumbar vertebrae, ... OMIM:230650
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Myopathy, Myofibrillar, 6
Spinal rigidity, Muscular dystrophy, Lower limb muscle weakness, Myofibrillar myopathy, Knee flex... OMIM:612954
Emanuel Syndrome
Congenital diaphragmatic hernia, Inguinal hernia, Torticollis, Joint contracture, Scoliosis, Kyph... OMIM:609029
Charcot-Marie-Tooth Disease Type 1F
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:101085
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Abnormality of extrapyramidal motor function, Clumsiness, Abnormal pyram... ORPHA:98757
Oculopharyngodistal Myopathy
Vocal cord paresis, Proximal muscle weakness in upper limbs, Paraplegia, Distal lower limb amyotr... ORPHA:98897
Fibrosis Of Extraocular Muscles, Congenital, 3C
Congenital fibrosis of extraocular muscles, Kyphosis OMIM:609384
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Decreased serum testosterone concentration, Lower limb spasticity, Dysto... ORPHA:101006
Polyglucosan Body Neuropathy, Adult Form
Spastic paraplegia, Tetraparesis, Abnormal upper motor neuron morphology, Neurogenic bladder, Ort... OMIM:263570
Dystonia 1, Torsion, Autosomal Dominant
Blepharospasm, Generalized dystonia, Generalized hypotonia, Hypotonia, Multiple joint contracture... OMIM:128100
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Vocal cord paresis, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper li... ORPHA:101097
Amish Nemaline Myopathy
Shoulder flexion contracture, Neonatal hypotonia, Type 1 muscle fiber predominance, Hip contractu... ORPHA:98902
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, Skeletal muscle... ORPHA:352479
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Minicore myopathy, Increased endomysial connective tissue, Arthrogryposis multiplex congenita, Sh... ORPHA:178148
Axial Mesodermal Dysplasia Spectrum
Abnormal form of the vertebral bodies, Congenital diaphragmatic hernia, Vertebral segmentation de... ORPHA:1834
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Ankle flexion contracture, Infantile axial hypotonia, Knee flexion contracture, Short neck, Hyper... ORPHA:284417
Juvenile Amyotrophic Lateral Sclerosis
Upper-limb joint contracture, Distal amyotrophy, Skeletal muscle atrophy, Arm dystonia, Amyotroph... ORPHA:300605
Charcot-Marie-Tooth Disease, Type 4K
Dystonia, Skeletal muscle atrophy, Kyphoscoliosis OMIM:616684
Myopathy, Tubular Aggregate, 1
Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Myopathy, Weakn... OMIM:160565
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Muscular dystrophy, Frequent falls, Shoulder girdle muscle weakness, Calf muscle hy... OMIM:607155
Congenital Myopathy 20
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Nemal... OMIM:620310
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Optic atrophy, Foot joint contracture, Skeletal muscle atrophy, Decreased nerve conduction veloci... ORPHA:457205
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Optic atrophy, Skeletal muscle atrophy, Hypotonia, Joint contracture, Spastic tetraparesis, Scoli... OMIM:617481
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Poor wound healing, Contracture of the proximal interphalangeal joint of the 2nd finger, Bruising... OMIM:130060
Variegate Porphyria
Paralysis OMIM:176200
Spondylocostal Dysostosis 3, Autosomal Recessive
Hypoplasia of the odontoid process, Contracture of the proximal interphalangeal joint of the 2nd ... OMIM:609813
Spastic Paraplegia 53, Autosomal Recessive
Spastic paraplegia, Upper limb hypertonia, Clonus, Kyphosis, Lower limb hypertonia OMIM:614898
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Generalized hypotonia, S... OMIM:616867
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Centrally nucleated skeletal muscle fibers, Death in early adulthood, Type 1 muscle fiber predomi... OMIM:255160
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Intellectual Developmental Disorder, Autosomal Recessive 38
Recurrent hand flapping, Self-mutilation, Aggressive behavior, Hyperactivity, Unsteady gait OMIM:615516
Brown-Vialetto-Van Laere Syndrome 1
Tongue fasciculations, Skeletal muscle atrophy, Death in childhood, Hand muscle atrophy, Ankle cl... OMIM:211530
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Distal lower limb muscle weakness, Distal amyotrophy, Spastic dysarthria, Spinocerebellar tract d... ORPHA:94124
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Myopathy, Weakness of facial musculatu... ORPHA:254875
Muscular Dystrophy, Congenital, Lmna-Related
Spinal rigidity, Muscular dystrophy, Upper limb muscle weakness, Elbow contracture, Muscle fiber ... OMIM:613205
Glycogen Storage Disease Ixd
Distal amyotrophy, Skeletal muscle atrophy, Quadriceps muscle weakness, Lower limb muscle weaknes... OMIM:300559
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Attention deficit hyperactivity disorder, Hyperactivity OMIM:617182
Mitochondrial Dna Depletion Syndrome 11
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Proximal amyotr... OMIM:615084
Intellectual Disability, Birk-Barel Type
Foot joint contracture, Neonatal hypotonia, Fatigable weakness of skeletal muscles, Generalized h... ORPHA:166108
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Centrally nucleated skeletal muscle fibers, Vocal cord paresis, Fasciculations, Foot dorsiflexor ... OMIM:619574
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Skeletal muscle atrophy, Limb hypertonia, Scoliosis, Spastic tetraplegia, Axial hy... OMIM:619527
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Self-injurious behavior, Inability to walk, Bruxism, Motor stereotypy, Hyperactivity, Paroxysmal ... OMIM:618718
Female Restricted Epilepsy With Intellectual Disability
Abnormal eating behavior, Aggressive behavior, Hyperactivity, Compulsive behaviors, Impulsivity ORPHA:101039
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Skeletal muscle atrophy, Ragged-red muscle fibers, Rhabdomyolysis OMIM:617070
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Rimmed vacuoles, Increased variability in muscle fiber diameter, Upper limb muscle weakness, Lowe... OMIM:616924
Oculopharyngodistal Myopathy 3
Rimmed vacuoles, Increased variability in muscle fiber diameter, Distal amyotrophy, Increased end... OMIM:619473
Mitochondrial Complex I Deficiency, Nuclear Type 6
Optic atrophy, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Left ventricular hypert... OMIM:618228
X-Linked Intellectual Disability, Stocco Dos Santos Type
Increased serum serotonin, Kyphosis ORPHA:85288
Autosomal Dominant Spastic Paraplegia Type 19
Progressive spastic paraplegia, Lower limb muscle weakness, Spinal cord lesion, Lower limb spasti... ORPHA:100999
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Optic atrophy, Hypotonia, Skeletal muscle atrophy ORPHA:477814
Congenital Myopathy 22A, Classic
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620351
Genitopalatocardiac Syndrome
Congenital diaphragmatic hernia, Scoliosis, Kyphosis ORPHA:2075
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Muscular dystrophy, Elbow flexion contracture, Joint contracture, Scoliosis, Generalized amyotrophy OMIM:616516
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Optic atrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity, Joint contract... OMIM:615419
Amyotrophic Lateral Sclerosis 8
Amyotrophic lateral sclerosis, Proximal amyotrophy, Skeletal muscle atrophy, Distal amyotrophy OMIM:608627
Leukodystrophy, Hypomyelinating, 3
Spastic paraparesis, Appendicular spasticity, Kyphoscoliosis, Death in infancy, Joint contracture... OMIM:260600
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Distal amyotrophy, Decreased motor nerve conduction velocity, Kyphoscoliosis OMIM:607831
Schindler Disease, Type I
Optic atrophy, Spasticity, Generalized hypotonia, Hypotonia, Generalized amyotrophy OMIM:609241
Neuropathy, Congenital, With Arthrogryposis Multiplex
Spasticity, Distal amyotrophy, Arthrogryposis multiplex congenita, Hyperlordosis OMIM:162370
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Self-injurious behavior, Inappropriate behavior, Aggressive behavior, Attention deficit hyperacti... OMIM:619827
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Kyph... ORPHA:99950
Primary Angiitis Of The Central Nervous System
Tetraparesis, Pseudopapilledema, Hemiparesis, Paralysis, Parkinsonism, Paraparesis, Ataxia ORPHA:140989
Spastic Paraplegia 85, Autosomal Recessive
Spastic paraplegia, Upper limb spasticity, Optic atrophy, Lower limb muscle weakness, Lower limb ... OMIM:619686
Cerebellar Ataxia, Cayman Type
Hypotonia, Dystonia, Skeletal muscle atrophy, Hypomimic face OMIM:601238
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Hypotonia, Muscular dystrophy, Kyphosis ORPHA:1875
Marinesco-Sjogren Syndrome
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Spasticity, Skeletal muscle atrophy,... OMIM:248800
Congenital Disorder Of Glycosylation, Type Iibb
Spasticity, Skeletal muscle atrophy, Appendicular hypotonia, Axial hypotonia OMIM:620546
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Muscular dystrophy, Skeletal muscle atrophy, Triangular tongue, Calf muscle hypertrophy, Macroglo... OMIM:616827
Charcot-Marie-Tooth Disease Type 4G
Distal amyotrophy, Decreased motor nerve conduction velocity, Distal lower limb muscle weakness, ... ORPHA:99953
Acro-Renal-Mandibular Syndrome
Butterfly vertebrae, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:958
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:612999
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Neurogenic Arthrogryposis Multiplex Congenita
Ankle flexion contracture, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb muscle... ORPHA:1143
Hereditary Motor And Sensory Neuropathy, Type Iic
Vocal cord paresis, Shoulder girdle muscle atrophy, Proximal muscle weakness in upper limbs, Dist... OMIM:606071
Myopathy Due To Myoadenylate Deaminase Deficiency
Hypotonia, Rhabdomyolysis, Skeletal muscle atrophy, Myopathy OMIM:615511
Pontocerebellar Hypoplasia, Type 1A
Distal amyotrophy, Congenital contracture, Hypotonia, Spinal muscular atrophy, Degeneration of an... OMIM:607596
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Muscular dystrophy, Lower limb muscle weakness, Myositis, Proximal amyotrophy, Scapular winging, ... OMIM:253600
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 28
Centrally nucleated skeletal muscle fibers, Proximal muscle weakness in lower limbs, Proximal mus... OMIM:620375
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Generalized amyotrophy, Lower limb muscle weakness, Lower limb spasticity, Scoliosis, Lower limb ... ORPHA:1177
Intellectual Disability-Strabismus Syndrome
Joint contracture of the hand, Spasticity, Congenital diaphragmatic hernia, Short neck, Achilles ... ORPHA:363528
Autosomal Recessive Spastic Paraplegia Type 53
Clonus, Kyphosis, Upper limb hypertonia ORPHA:319199
Multiple Pterygium Syndrome, Escobar Variant
Diaphragmatic eventration, Anterior clefting of vertebral bodies, Arthrogryposis multiplex congen... OMIM:265000
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Decreased cervical spine flexion due to contractur... ORPHA:254361
Autosomal Recessive Spastic Paraplegia Type 5A
Spastic paraplegia, Upper limb spasticity, Upper limb muscle weakness, Lower limb muscle weakness... ORPHA:100986
Arnold-Chiari Malformation Type I
Progressive cerebellar ataxia, Myelopathy, Cranial nerve compression, Abnormality of the vestibul... ORPHA:268882
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Generalized hypotonia, Acute infantile spinal muscular atrophy, Flexion co... OMIM:271225
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118220
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Muscular dystrophy, Proximal amyotrophy, Calf muscle hypertrophy, Scapular winging OMIM:601287
X-Linked Adrenoleukodystrophy
Leg muscle stiffness, Progressive spastic paraparesis, Incoordination, Hemiparesis, Clumsiness, P... ORPHA:43
Myopathy, Distal, 3
Rimmed vacuoles, Muscular dystrophy, Distal amyotrophy, Joint contracture of the hand, EMG: myopa... OMIM:610099
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Czeizel-Losonci Syndrome
Thoracolumbar scoliosis, Spina bifida, Spina bifida occulta, Posterolateral diaphragmatic hernia,... ORPHA:2437
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hand muscle atrophy ORPHA:99944
Intellectual Developmental Disorder, Autosomal Recessive 39
Aggressive behavior, Motor stereotypy, Hyperactivity OMIM:615541
Vocal Cord And Pharyngeal Distal Myopathy
Rimmed vacuoles, Vocal cord paresis, Amyotrophic lateral sclerosis, Shoulder girdle muscle weakne... ORPHA:600
Emanuel Syndrome
Multiple joint contractures, Congenital diaphragmatic hernia, Kyphoscoliosis, Inguinal hernia, Sc... ORPHA:96170
Progressive Non-Fluent Aphasia
Astrocytosis, Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morpholog... ORPHA:100070
Hypertrophic Neuropathy Of Dejerine-Sottas
Distal amyotrophy, Decreased motor nerve conduction velocity, Hypotonia, Foot dorsiflexor weaknes... OMIM:145900
Hypokalemic Periodic Paralysis, Type 1
Periodic paralysis, Myopathy OMIM:170400
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Increased variability in muscle fiber diameter, Muscular dystrophy, Proximal amyotrophy, Skeletal... OMIM:614302
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Generalized hypotonia, Hypotonia, Scheuermann-like vertebral chan... OMIM:301900
Lipomatosis, Multiple Symmetric, With Or Without Axonal Peripheral Neuropathy
Increased variability in muscle fiber diameter, Macroglossia, Skeletal muscle atrophy, Kyphosis OMIM:151800
Classic Multiminicore Myopathy
Spinal rigidity, Muscular dystrophy, Generalized hypotonia, Muscle fiber atrophy, Increased muscl... ORPHA:324604
Autism Spectrum Disorder Due To Auts2 Deficiency
Spasticity, Joint contracture of the hand, Congenital contracture, Arthrogryposis multiplex conge... ORPHA:352490
Sialidosis Type 2
Skeletal muscle atrophy, Umbilical hernia, Inguinal hernia, Tremor, Ataxia, Flexion contracture, ... ORPHA:87876
Hereditary Methemoglobinemia
Spasticity, Limb dystonia, Cyanosis, Hypertonia, Spastic tetraplegia ORPHA:621
Mitochondrial Complex I Deficiency, Nuclear Type 11
Hypotonia, Scoliosis, Kyphosis, Myopathy OMIM:618234
Autosomal Dominant Spastic Paraplegia Type 6
Spastic paraplegia, Lower limb spasticity, Skeletal muscle atrophy ORPHA:100988
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Vocal cord paresis, Distal amyotrophy, Decreased motor nerve conduction velocity, ... OMIM:601152
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Distal amyotrophy, Denervation of the diaphragm, Neonatal hypotonia, Camptodactyly of finger, Dec... OMIM:604320
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Paralysis, Skeletal muscle atrophy, Limb muscle weakness OMIM:612300
Lopes-Maciel-Rodan Syndrome
Spasticity, Tremor, Ankle clonus, Abnormal pyramidal sign, Hypertonia, Bradykinesia, Scoliosis, K... OMIM:617435
Craniorachischisis
Spinal dysraphism, Cervical spina bifida, Congenital diaphragmatic hernia, Omphalocele ORPHA:63260
Bethlem Muscular Dystrophy
Spinal rigidity, Rimmed vacuoles, Ankle flexion contracture, Muscular dystrophy, Quadriceps muscl... ORPHA:610
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Scoliosis, Skeletal muscle atrophy, Flexion contracture ORPHA:98896
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Vertebral segmentation defect ORPHA:1915
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Nemaline bodies, Shoulder flexion contracture, Z-band streaming, Type 1 muscle fiber predominance... OMIM:605355
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Spina bifida occulta, Skeletal muscle atrophy, Sacrococcygeal pilonidal abnormality ORPHA:2840
O'Donnell-Luria-Rodan Syndrome
Prolonged neonatal jaundice, Kyphosis, Generalized hypotonia OMIM:618512
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:617072
Fucosidosis
Spasticity, Spastic tetraplegia, Decreased muscle mass, Vascular skin abnormality, Hypotonia, Ant... ORPHA:349
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Cerebral palsy, Fasciculations, Periodic hyperkalemic paralysis, Death i... ORPHA:682
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Generalized neonatal hypotonia, Skeletal muscle atrophy, Hypotonia, Death in childhood, Death in ... OMIM:245400
Digital Extensor Muscle Aplasia-Polyneuropathy
Abnormal nerve conduction velocity, Aplasia/Hypoplasia involving the skeletal musculature, Muscul... ORPHA:2926
Non-Syndromic Posterior Hypospadias
Congenital diaphragmatic hernia, Omphalocele ORPHA:95706
Wieacker-Wolff Syndrome
Spasticity, Distal amyotrophy, Scoliosis, Kyphosis, Generalized hypotonia, Hypotonia, Short neck,... OMIM:314580
Developmental And Epileptic Encephalopathy 86
Dystonia, Generalized hypotonia, Generalized amyotrophy OMIM:618910
Zimmermann-Laband Syndrome 2
Generalized hypotonia, Hypotonia, Short neck, Macroglossia, Kyphosis OMIM:616455
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Spastic Paraplegia 9A, Autosomal Dominant
Spastic paraplegia, Resting tremor, Abnormal upper motor neuron morphology, Gait ataxia, Hoffmann... OMIM:601162
Allan-Herndon-Dudley Syndrome
Spasticity, Skeletal muscle atrophy, Neonatal hypotonia, Kyphoscoliosis, Dystonia, Limb hypertoni... ORPHA:59
Kleefstra Syndrome 2
Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia OMIM:617768
Myopathy, Myofibrillar, 8
Centrally nucleated skeletal muscle fibers, Nemaline bodies, Spinal rigidity, Neonatal hypotonia,... OMIM:617258
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Distal amyotrophy, Decreased motor nerve conduction velocity, Limb muscle weakness, Foot dorsifle... OMIM:118200
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Hypotonia, Scoliosis, Kyphosis ORPHA:276630
Snakebite Envenomation
Pseudobulbar paralysis, Rhabdomyolysis, Respiratory paralysis, Paralysis, Muscle fiber necrosis ORPHA:449285
Chromosome 1Q41-Q42 Deletion Syndrome
Scoliosis, Congenital diaphragmatic hernia, Vertebral segmentation defect OMIM:612530
Marinesco-Sjögren Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Spasticity, Skeletal m... ORPHA:559
Spastic Paraplegia 39, Autosomal Recessive
Distal lower limb muscle weakness, Distal amyotrophy, Atrophy of the spinal cord, Progressive spa... OMIM:612020
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Sjögren-Larsson Syndrome
Erythema, Spasticity, Urticaria, Hypotonia, Scoliosis, Kyphosis, Spastic diplegia ORPHA:816
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Hypotonia, Abnormal cranial nerve morphology, Limb muscle weakness, Abno... ORPHA:97229
Myofibrillar Myopathy 10
Ankle flexion contracture, Elbow flexion contracture, EMG: myopathic abnormalities, Knee flexion ... OMIM:619040
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Multiple joint contractures, Severe muscular hypotonia, Spina bifida occ... OMIM:618291
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Knee flexion contracture, Intri... OMIM:615490
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Classical-Like Ehlers-Danlos Syndrome Type 1
Spina bifida occulta, Hypotonia, Skeletal muscle atrophy, Bruising susceptibility ORPHA:230839
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Skeletal muscle atrophy, Neonatal hypotonia, Decreased motor nerve conduction velocity, Decreased... OMIM:218000
Congenital Heart Defects And Skeletal Malformations Syndrome
Camptodactyly, Congenital diaphragmatic hernia, Scoliosis, Kyphosis OMIM:617602
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Scoliosis, Kyphosis OMIM:300434
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Hypotonia, Cyanosis, Knee flexion contracture, Weakness o... OMIM:617239
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Proximal muscle weakness in lower limbs, Proximal muscle weakness in upper limbs, ... ORPHA:99956
White-Sutton Syndrome
Optic atrophy, Incoordination, Congenital diaphragmatic hernia, Inguinal hernia, Ventral hernia, ... ORPHA:468678
Zimmermann-Laband Syndrome 3
Flexion contracture, Kyphosis, Generalized hypotonia OMIM:618658
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Optic atrophy, Distal amyotrophy, Progressive spastic paraplegia, Distal lower limb amyotrophy, M... ORPHA:320406
Benign Familial Infantile Epilepsy
Cyanosis, Hypertonia ORPHA:306
Posterior Column Ataxia With Retinitis Pigmentosa
Optic atrophy, Joint contracture of the hand, Skeletal muscle atrophy, Flexion contracture of fin... OMIM:609033
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Foot dorsiflexor weakness, Scoliosis, Kyphosis, Ataxia OMIM:618124
Autosomal Recessive Ataxia, Beauce Type
Spasticity, Skeletal muscle atrophy, Lower limb muscle weakness, Fasciculations, Dysmetria, Ankle... ORPHA:88644
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Generalized amyotrophy, Neuropathic spinal arthropathy, Ragged-red muscle fibers, Myopathy, Weakn... ORPHA:352447
Intellectual Developmental Disorder, Autosomal Dominant 26
Cerebral palsy, Umbilical hernia, Inguinal hernia, Hypertonia, Scoliosis, Arthrogryposis multiple... OMIM:615834
Cleft Palate-Large Ears-Small Head Syndrome
Hypotonia, Skeletal muscle atrophy ORPHA:2013
Lowry-Maclean Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hemiparesis ORPHA:2409
Spondylometaphyseal Dysplasia, X-Linked
Platyspondyly, Hip contracture, Knee flexion contracture, Thoracolumbar scoliosis, Kyphosis OMIM:313420
Sialidosis Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Decreased nerve conduction veloci... ORPHA:812
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Distal amyotrophy, Rhabdomyolysis, Distal lower limb mus... ORPHA:399096
Autosomal Recessive Spastic Paraplegia Type 66
Progressive spastic paraplegia, Lower limb spasticity, Limb hypertonia, Spastic gait, Lower limb ... ORPHA:401815
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Self-injurious behavior, Inability to walk, Aggressive behavior, Hyperactivity, Choreoathetosis OMIM:620023
Mitochondrial Dna Depletion Syndrome 18
Distal amyotrophy, Foot dorsiflexor weakness, Hand muscle atrophy, Weakness of facial musculature... OMIM:618811
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Inappropriate laughter, Polyphagia, Hyperactivity, Ataxia ORPHA:411515
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Nemaline bodies, Joint contracture of the hand, Increased endomysial connective tissue, Skeletal ... OMIM:620278
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Poliomyelitis
Hypoplasia of the musculature, Myelitis, Skeletal muscle atrophy, Upper limb muscle weakness, Low... ORPHA:2912
Donnai-Barrow Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Omphalocele, Diaphragmatic eventration OMIM:222448
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Hemiplegia/hemiparesis ORPHA:1647
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Spasticity, Abnormal upper motor neuron morphology, Myoclonus, Babinski sign, Apraxia, Gliosis OMIM:221770
Crisponi Syndrome
Camptodactyly of finger, Death in infancy, Hypertonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:1545
Ataxia-Telangiectasia-Like Disorder 2
Congenital diaphragmatic hernia, Joint contracture, Ataxia OMIM:615919
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Inability to walk, Gait ataxia, Aggressive behavior, Hyperactivity, Dysphagia, Impulsivity ORPHA:500180
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
White-Sutton Syndrome
Hypoplastic cervical vertebrae, Congenital diaphragmatic hernia, Short neck, Facial hypotonia, Op... OMIM:616364
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
Vacterl/Vater Association
Congenital diaphragmatic hernia, Vertebral segmentation defect, Omphalocele, Abnormal sacrum morp... ORPHA:887
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Breath-Holding Spells
Cyanosis OMIM:607578
Immune-Mediated Necrotizing Myopathy
Proximal muscle weakness in lower limbs, Skeletal muscle atrophy, Myopathy, Myositis, Fatiguable ... ORPHA:206569
2Q37 Microdeletion Syndrome
Short neck, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:1001
Focal Dermal Hypoplasia
Camptodactyly of finger, Umbilical hernia, Abnormal dental enamel morphology, Diastasis recti, Co... ORPHA:2092
Japanese Encephalitis
Decreased motor nerve conduction velocity, Pill-rolling tremor, Skeletal muscle atrophy, Elbow fl... ORPHA:79139
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Shuffling gait, Broad-based gait, Abnormal fear-induced behavior, Aggressive behavior, Hyperactiv... ORPHA:3077
Atypical Rett Syndrome
Involuntary movements, Spasticity, Pill-rolling tremor, Limb myoclonus, Hand apraxia, Gait ataxia... ORPHA:3095
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Centrally nucleated skeletal muscle fibers, Rimmed vacuoles, Skeletal muscle atrophy, Muscle fibe... OMIM:615422
Amyotrophy, Monomelic
Interosseus muscle atrophy, Cervical spinal cord atrophy, Upper limb muscle weakness OMIM:602440
Developmental Delay, Language Impairment, And Ocular Abnormalities
Frequent temper tantrums, Aggressive behavior, Attention deficit hyperactivity disorder, Hyperact... OMIM:620141
Winchester Syndrome
Kyphosis OMIM:277950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Increased variability in muscle fiber diameter, Optic atrophy, Skeletal muscle atrophy, Muscle fi... OMIM:258450
Autosomal Recessive Centronuclear Myopathy
Centrally nucleated skeletal muscle fibers, Generalized hypotonia, Facial diplegia, Type 1 muscle... ORPHA:169186
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Spasticity, Scoliosis, Kyphosis ORPHA:2429
Cdkl5-Deficiency Disorder
Scoliosis, Kyphosis, Abnormal muscle tone ORPHA:505652
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy ORPHA:2028
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Spastic paraplegia, Distal amyotrophy, Decreased motor nerve conduction velocity, Decreased ampli... OMIM:256840
Secondary Syringomyelia
Facial paralysis, Pseudobulbar paralysis, Paraplegia, Fatigable weakness, Syringomyelia, Hyperint... ORPHA:99857
Pericardial And Diaphragmatic Defect
Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm ORPHA:2847
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Limb joint contracture, Skeletal muscle atrophy, Reduced subcutaneous adipose tissue, Kyphoscoliosis OMIM:612079
Trisomy 1Q
Congenital diaphragmatic hernia, Omphalocele, Camptodactyly of finger ORPHA:261344
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Leukodystrophy, Hypomyelinating, 5
Delayed brainstem auditory evoked response conduction time, Decreased motor nerve conduction velo... OMIM:610532
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Elbow flexion contracture, Knee flexion contracture, Myopathy, Decreased... OMIM:310300
Spinocerebellar Ataxia 1
Optic atrophy, Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spinocerebellar tract dege... OMIM:164400
Wolf-Hirschhorn Syndrome
Abnormal vertebral morphology, Optic atrophy, Tethered cord, Abnormality of the vertebral column,... ORPHA:280
Lissencephaly 8
Optic atrophy, Axial hypotonia, Skeletal muscle atrophy, Appendicular spasticity OMIM:617255
Spastic Paraplegia 91, Autosomal Dominant, With Or Without Cerebellar Ataxia
Proximal muscle weakness in lower limbs, Spastic paraplegia, Skeletal muscle atrophy, Upper limb ... OMIM:620538
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Generalized hypotonia, Hypotonia, Joint contracture of the 5th finger, Dystonia, Acrocyanosis OMIM:614407
Hsd10 Disease, Infantile Type
Optic atrophy, Spastic tetraparesis, Hypotonia, Cyanosis, Dystonia, Spastic diplegia ORPHA:391428
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Proximal amyotrophy, Degeneration of anterior horn cells OMIM:604484
Triosephosphate Isomerase Deficiency
Spasticity, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Myopathy, Death in infancy... OMIM:615512
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Short neck, Congenital diaphragmatic hernia, Hemivertebrae ORPHA:1780
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Generalized hypotonia, Generalized abnormality of skin, Myopathy, Severe... ORPHA:367
Iniencephaly
Absent vertebra, Spinal dysraphism, Congenital diaphragmatic hernia, Syringomyelia, Hyperlordosis... ORPHA:63259
Autosomal Recessive Spastic Paraplegia Type 39
Spastic paraplegia, Lower limb spasticity, Atrophy of the spinal cord, Generalized limb muscle at... ORPHA:139480
Pontocerebellar Hypoplasia, Type 1B
Spasticity, Skeletal muscle atrophy, Generalized hypotonia, Flexion contracture, Axial hypotonia OMIM:614678
Arterial Tortuosity Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contra... OMIM:208050
Ane Syndrome
Decreased serum testosterone concentration, Multiple joint contractures, Kyphoscoliosis, Decrease... ORPHA:157954
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Optic atrophy, Skeletal muscle atrophy, Opisthotonus, Hypertonia, Axial hypotonia OMIM:616896
Kennedy Disease
Hypotonia, Skeletal muscle atrophy ORPHA:481
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Inguinal hernia, Kyphosis OMIM:618392
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Scoliosis, Kyphosis, Ataxia ORPHA:85317
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Hypotonia, Scoliosis, Kyphosis ORPHA:1548
Intellectual Developmental Disorder, X-Linked 107
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity OMIM:301013
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Proxi... OMIM:620138
Hemifacial Atrophy, Progressive
Horner syndrome, Kyphosis, Ataxia OMIM:141300
Encephalopathy, Ethylmalonic
Hypotonia, Acrocyanosis, Petechiae, Death in infancy OMIM:602473
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Myopathy, Fatigable weakness of neck musc... ORPHA:42
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Truncal titubation, Abnormal sensory nerve conduction velocity, Gait ataxia, Flexion contracture ... ORPHA:88628
Lipodystrophy, Familial Partial, Type 6
Muscular dystrophy, Skeletal muscle atrophy, Lower limb muscle weakness, Lumbar hyperlordosis, My... OMIM:615980
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Platyspondyly, Elbow flexion contracture, Congenital diaphragmatic hernia, Inguinal hernia, Short... OMIM:245600
Holoprosencephaly
Optic atrophy, Spasticity, Spinal dysraphism, Abnormal form of the vertebral bodies, Chorea, Cong... ORPHA:2162
Amyotrophic Dystonic Paraplegia
Spastic paraplegia, Dystonia, Skeletal muscle atrophy OMIM:105300
Alpha-Mannosidosis
Generalized abnormality of skin, Hypotonia, Short neck, Macroglossia, Scoliosis, Kyphosis ORPHA:61
Autosomal Dominant Spastic Paraplegia Type 12
Progressive spastic paraplegia, Lower limb muscle weakness, Spinal cord lesion, Lower limb spasti... ORPHA:100993
Developmental Delay With Or Without Dysmorphic Facies And Autism
Optic disc coloboma, Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Omphaloc... OMIM:618454
Arthrogryposis, Distal, Type 5
Firm muscles, Decreased muscle mass, Distal arthrogryposis, Hypertonia, Congenital finger flexion... OMIM:108145
Congenital Disorder Of Glycosylation, Type Iio
Prolonged neonatal jaundice, Skeletal muscle atrophy, Generalized hypotonia OMIM:616828
Pentalogy Of Cantrell
Scoliosis, Congenital diaphragmatic hernia, Omphalocele ORPHA:1335
Mosaic Trisomy 1
Camptodactyly of finger, Elbow flexion contracture, Congenital diaphragmatic hernia, Thoracic sco... ORPHA:1692
Spastic Paraplegia 11, Autosomal Recessive
Spastic paraplegia, Skeletal muscle atrophy, Lower limb muscle weakness, Lower limb spasticity, S... OMIM:604360
Isolated Succinate-Coq Reductase Deficiency
Spasticity, Distal amyotrophy, Skeletal muscle atrophy, Spastic paraparesis, Generalized hypotoni... ORPHA:3208
Fryns Syndrome
Aganglionic megacolon, Short neck, Congenital diaphragmatic hernia, Omphalocele ORPHA:2059
Brachyolmia Type 3
Platyspondyly, Short neck, Spinal cord compression, Scoliosis, Kyphosis OMIM:113500
Congenital Fibrinogen Deficiency
Bruising susceptibility, Subcutaneous hemorrhage, Cyanosis, Opisthotonus, Left ventricular hypert... ORPHA:335
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Combined Oxidative Phosphorylation Defect Type 23
Cyanosis, Left ventricular hypertrophy, Right ventricular hypertrophy, Infantile muscular hypotonia ORPHA:444013
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Axial hypotonia ORPHA:1949
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Scoliosis, Skeletal muscle atrophy, Joint contracture OMIM:615704
Becker Nevus Syndrome
Spina bifida occulta, Shoulder girdle muscle atrophy, Scoliosis, Kyphosis ORPHA:64755
Autosomal Recessive Spastic Paraplegia Type 55
Optic atrophy, Spasticity, Spastic paraparesis, Skeletal muscle atrophy, Upper limb muscle weakne... ORPHA:320375
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Periodic paralysis, Rhabdomyolysis OMIM:188580
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Spasticity, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Ragged-red ... OMIM:616239
8P23.1 Microdeletion Syndrome
Short neck, Congenital diaphragmatic hernia ORPHA:251071
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Microphthalmia, Syndromic 9
Neonatal death, Inguinal hernia, Congenital diaphragmatic hernia, Diaphragmatic eventration OMIM:601186
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Myositis, Proximal muscle weakness in lower limbs, Calf muscle hypertrophy, Skeletal muscle atrophy ORPHA:565899
Basilar Impression, Primary
Abnormal cervical myelogram, Limb muscle weakness, Kyphoscoliosis, Syringomyelia, Short neck, Hor... OMIM:109500
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle weakness, Lower limb... ORPHA:254930
Ck Syndrome
Kyphosis, Scoliosis, Hyperlordosis, Generalized hypotonia OMIM:300831
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Periodic paralysis, Hand tremor OMIM:609153
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Scoliosis, Kyphosis, Ataxia OMIM:300861
Hall-Riggs Syndrome
Platyspondyly, Intrauterine growth retardation, Scoliosis, Kyphosis, Irregular vertebral endplates OMIM:234250
Microcephalic Primordial Dwarfism, Montreal Type
Premature graying of hair, Vertebral segmentation defect, Hypertonia, Prematurely aged appearance... ORPHA:2617
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Muscu... OMIM:616812
Severe Congenital Nemaline Myopathy
Nemaline bodies, Skeletal muscle atrophy, Facial diplegia, Type 1 muscle fiber predominance, Seve... ORPHA:171430
Toxin-Mediated Infectious Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:230800
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Congenital diaphragmatic hernia, Neonatal death OMIM:194080
Tick-Borne Encephalitis
Tongue fasciculations, Myelitis, Skeletal muscle atrophy, Incoordination, Speech apraxia, Abnorma... ORPHA:297
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Quadriceps muscle weakness, Neonatal hypotonia, Elbow flexion contractur... ORPHA:70
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Increased circulating cortisol level, Bruising susceptibility, Decreased... OMIM:219080
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis ORPHA:970
Pagod Syndrome
Optic atrophy, Congenital diaphragmatic hernia, Death in infancy, Spina bifida, Omphalocele ORPHA:991
7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia, Dysmetria, Inguinal hernia, Abnormal optic disc morphology, Shor... ORPHA:96121
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Optic atrophy, Spasticity, Myoclonus, Neurogenic bladder, Vocal cord paralysis, Increased cup-to-... ORPHA:500144
Metatropic Dysplasia
Platyspondyly, Anisospondyly, Hypoplasia of the odontoid process, Caudal appendage, Arthrogryposi... OMIM:156530
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Frog-leg posture, Generalized hypotonia OMIM:618603
Schwartz-Jampel Syndrome, Type 1
Platyspondyly, Joint contracture of the hand, Cervical kyphosis, Skeletal muscle atrophy, Quadric... OMIM:255800
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Poor wound healing, Bruising susceptibility, Increased circulating ACTH ... OMIM:219090
Ataxia-Telangiectasia
Spasticity, Skeletal muscle atrophy, Premature graying of hair, Telangiectasia of the skin, Prema... ORPHA:100
Cornelia De Lange Syndrome 1
Optic atrophy, Optic disc coloboma, Elbow flexion contracture, Congenital diaphragmatic hernia, I... OMIM:122470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Spasticity, Congenital diaphragmatic hernia, Choreoathetosis, Tremor OMIM:614080
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Skeletal muscle atrophy, Limb hypertonia, Hypertonia, Dystonia, Spastic tetraplegi... OMIM:617710
Histidinemia
Hyperactivity ORPHA:2157
Trisomy 18
Camptodactyly of finger, Congenital diaphragmatic hernia, Hernia, Spina bifida, Omphalocele, Hype... ORPHA:3380
Developmental Malformations-Deafness-Dystonia Syndrome
Generalized dystonia, Death in early adulthood, Macroglossia, Scoliosis, Kyphosis ORPHA:79107
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Generalized hypotonia, Hypotonia, Distal lower limb amyotrophy, Macroglossia, Kyphosis OMIM:300354
Diamond-Blackfan Anemia 10
Morgagni diaphragmatic hernia, Congenital diaphragmatic hernia OMIM:613309
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Hypotonia, Kyphoscoliosis, Flexion contracture ORPHA:75496
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Platyspondyly, Kyphosis ORPHA:2786
Metatropic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, A... ORPHA:2635
Wieacker-Wolff Syndrome, Female-Restricted
Spasticity, Hip contracture, Weakness of facial musculature, Short neck, Oculomotor apraxia, Achi... OMIM:301041
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Hypotonia, Skeletal muscle atrophy OMIM:619759
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Generalized hypotonia, Hypotonia, Cyanosis, Opisthotonus, Limb hypertonia, Axial hypotonia OMIM:619580
Camurati-Engelmann Disease, Type 2
Skeletal muscle atrophy, Thoracolumbar scoliosis, Hip contracture, Knee flexion contracture OMIM:606631
Mcdonough Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Kyphosis ORPHA:2471
Bruck Syndrome 1
Platyspondyly, Ankle flexion contracture, Vertebral wedging, Elbow flexion contracture, Hip contr... OMIM:259450
Baralle-Macken Syndrome
Dystonia, Spasticity, Neonatal hypotonia, Kyphosis OMIM:619255
Dravet Syndrome
Cyanotic episode, Cogwheel rigidity, Infantile muscular hypotonia, Rigidity ORPHA:33069
Mitochondrial Phosphate Carrier Deficiency
Hypotonia, Cyanosis OMIM:610773
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Acrorenal-Mandibular Syndrome
Abnormal sacral segmentation, Elbow flexion contracture, Butterfly vertebrae, Congenital diaphrag... OMIM:200980
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Proximal muscle weakness in lower limbs, Joint contracture of the hand, Spinal muscular atrophy, ... ORPHA:466768
Spinocerebellar Ataxia, Autosomal Recessive 21
Spasticity, Skeletal muscle atrophy OMIM:616719
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Paralysis, Abnormal autonomic nervous system physiology ORPHA:83601
Tetrasomy 5P
Cyanosis, Short neck, Aplasia/Hypoplasia of the abdominal wall musculature, Neonatal hypotonia ORPHA:3309
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Spasticity, Progressive spastic paraplegia, Lower limb spasticity, Ataxia, Scoliosis, Kyphosis ORPHA:464282
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Spasticity, Distal amyotrophy, Tremor, Abnormality of extrapyramidal motor functio... OMIM:614298
Hypokalemic Periodic Paralysis, Type 2
Periodic paralysis OMIM:613345
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Knee flexion contracture, Thoracic scoliosis, Kyphosis, Axial hypotonia OMIM:603387
Craniofrontonasal Syndrome
Short neck, Scoliosis, Congenital diaphragmatic hernia, Umbilical hernia OMIM:304110
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Scoliosis, Kyphosis, Umbilical hernia ORPHA:2181
Oligomeganephronia
Congenital diaphragmatic hernia, Optic disc coloboma ORPHA:2260
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Flynn-Aird Syndrome
Skeletal muscle atrophy, Scoliosis, Kyphosis, Ataxia ORPHA:2047
Gm2-Gangliosidosis, Ab Variant
Chorea, Paralysis, Abnormal pyramidal sign, Hypertonia, Exaggerated startle response, Spastic tet... OMIM:272750
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Skeletal muscle atrophy, Hypotonia, Facial diplegia OMIM:613559
Cutis Laxa, Autosomal Recessive, Type Ia
Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:219100
Chromosome 15Q25 Deletion Syndrome
Short neck, Inguinal hernia, Congenital diaphragmatic hernia OMIM:614294
Tricuspid Atresia
Cyanosis ORPHA:1209
Autosomal Recessive Spastic Paraplegia Type 77
Progressive spastic paraplegia, Paroxysmal dystonia, Kyphoscoliosis, Scissor gait, Lower limb spa... ORPHA:466722
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Skeletal muscle atrophy, Increased muscle glycogen content ORPHA:371
Postencephalitic Parkinsonism
Involuntary movements, Resting tremor, Cogwheel rigidity, Rigidity, Babinski sign, Abnormal pyram... ORPHA:97349
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Aggressive behavior, Hyperactivity ORPHA:85327
Spinocerebellar Ataxia Type 1
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle atrophy, Generalized hypotonia... ORPHA:98755
Ataxia With Vitamin E Deficiency
Dystonia, Scoliosis, Skeletal muscle atrophy, Hypertonia ORPHA:96
Uruguay Faciocardiomusculoskeletal Syndrome
Joint contracture of the hand, Kyphoscoliosis, Camptodactyly of toe, Left ventricular hypertrophy... OMIM:300280
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Simpson-Golabi-Behmel Syndrome
Macroglossia, Camptodactyly of finger, Umbilical hernia, Congenital diaphragmatic hernia, Death i... ORPHA:373
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Spasticity, Skeletal muscle atrophy, Axial hypotonia, Generalized hypotonia OMIM:618862
Monosomy 9P
Abnormality of the vertebral column, Congenital diaphragmatic hernia, Hernia, Short neck, Hyperto... ORPHA:261112
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Increased variability in muscle fiber diameter, Generalized amyotrophy, Generalized hypotonia, Mu... OMIM:616866
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:2257
Poland Syndrome
Absence of subcutaneous fat, Congenital diaphragmatic hernia, Vertebral segmentation defect, Shor... ORPHA:2911
Mitochondrial Complex I Deficiency, Nuclear Type 1
Spasticity, Skeletal muscle atrophy, Hypotonia, Ragged-red muscle fibers, Death in infancy, Cyano... OMIM:252010
Hip Dysplasia, Beukes Type
Scoliosis, Kyphosis ORPHA:2114
Pontocerebellar Hypoplasia, Type 11
Spasticity, Skeletal muscle atrophy, Generalized hypotonia OMIM:617695
Thoracoabdominal Syndrome
Ventral hernia, Congenital diaphragmatic hernia, Omphalocele OMIM:313850
Ethylmalonic Encephalopathy
Acrocyanosis, Petechiae, Generalized hypotonia ORPHA:51188
Eosinophilic Fasciitis
Myositis, Muscular edema, Acrocyanosis ORPHA:3165
Weismann-Netter Syndrome
Scoliosis, Horizontal sacrum, Kyphosis OMIM:112350
Limb Body Wall Complex
Progressive congenital scoliosis, Abnormality of the vertebral column, Diastasis recti, Congenita... ORPHA:2369
Smith-Lemli-Opitz Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Congenit... ORPHA:818
Lateral Meningocele Syndrome
Dural ectasia, Tethered cord, Keloids, Decreased muscle mass, Umbilical hernia, Inguinal hernia, ... OMIM:130720
Rett Syndrome
Skeletal muscle atrophy, Abnormal muscle tone, Increased serum leptin, Infantile muscular hypoton... ORPHA:778
Arthrogryposis, Distal, Type 4
Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis, Torticollis, Camptodac... OMIM:609128
Paramyotonia Congenita Of Von Eulenburg
EMG: myopathic abnormalities, Periodic hypokalemic paresis, Facial muscle hypertrophy ORPHA:684
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Hidrotic ectodermal dysplasia, Joint contracture of the 5th finger, Scol... ORPHA:1883
Rett Syndrome
Spasticity, Skeletal muscle atrophy, Gait ataxia, Gait apraxia, Truncal ataxia, Scoliosis, Kyphosis OMIM:312750
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Atlantoaxial instability,... OMIM:183900
Diets-Jongmans Syndrome
Gliosis, Inguinal hernia, Congenital diaphragmatic hernia, Umbilical hernia OMIM:618846
Kabuki Syndrome
Abnormal form of the vertebral bodies, Butterfly vertebrae, Congenital diaphragmatic hernia, Vert... ORPHA:2322
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Congenital diaphragmatic hernia ORPHA:268249
Combined Oxidative Phosphorylation Deficiency 18
Hypotonia, Skeletal muscle atrophy OMIM:615578
Buerger Disease
Livedo reticularis, Acrocyanosis ORPHA:36258
Pitt-Hopkins-Like Syndrome 1
Aggressive behavior, Attention deficit hyperactivity disorder, Hyperactivity, Ataxia, Motor stere... OMIM:610042
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Short neck, Spinal cord compression, Hyperlordosis, Kyphosis, Fused cervical vertebrae ORPHA:2522
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Opisthotonus, Cyanosis, Hypertonia OMIM:250800
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Skeletal muscle atrophy OMIM:162100
Mucopolysaccharidosis, Type Iva
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Grayish enamel, Inguinal ... OMIM:253000
Cutis Laxa, Autosomal Recessive, Type Ic
Morgagni diaphragmatic hernia, Umbilical hernia, Posterolateral diaphragmatic hernia, Death in ch... OMIM:613177
Frank-Ter Haar Syndrome
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Beaking of vertebral bodies, Scoliosi... ORPHA:137834
Multiple Endocrine Neoplasia, Type Iib
Generalized hypotonia, Hypotonia, Myopathy, Aganglionic megacolon, Hyperlordosis, Elevated circul... OMIM:162300
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, Generalized hypotonia ORPHA:85329
Opitz Gbbb Syndrome
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia, Vertebral segmentation defect... ORPHA:2745
Aymé-Gripp Syndrome
Camptodactyly, Inguinal hernia, Scoliosis, Congenital diaphragmatic hernia ORPHA:1272
Methemoglobinemia And Ambiguous Genitalia
Cyanosis, Elevated circulating luteinizing hormone level, Decreased circulating dehydroepiandrost... OMIM:250790
L1 Syndrome
Aganglionic megacolon, Spasticity, Skeletal muscle atrophy ORPHA:275543
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Scoliosis, Hyperlordosis, Sacral dimple OMIM:615761
Congenital Myopathy 13
Skeletal muscle atrophy, Hypotonia, Weakness of facial musculature, Kyphoscoliosis, Fatty replace... OMIM:255995
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Autosomal Recessive Spastic Paraplegia Type 35
Optic atrophy, Spastic paraplegia, Dysdiadochokinesis, Foot dorsiflexor weakness, Dysmetria, Ankl... ORPHA:171629
Microhydranencephaly
Spastic tetraplegia, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypotonia, Scoliosis, Kyphosis OMIM:300676
Thyrotoxic Periodic Paralysis
Periodic hypokalemic paresis, Lower limb muscle weakness, Tremor, Rhabdomyolysis, Respiratory par... ORPHA:79102
Niemann-Pick Disease, Type A
Spasticity, Skeletal muscle atrophy, Hypotonia, Rigidity, Prolonged neonatal jaundice OMIM:257200
Autosomal Dominant Optic Atrophy, Classic Form
Spastic paraplegia, Spasticity, Optic atrophy, Skeletal muscle atrophy, Myopathy, Weakness of fac... ORPHA:98673
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Hypotonia, Scoliosis, Kyphosis OMIM:619797
Loeys-Dietz Syndrome 6
Umbilical hernia, Congenital diaphragmatic hernia, Inguinal hernia, Intervertebral disk degenerat... OMIM:619656
Fucosidosis
Anterior beaking of thoracic vertebrae, Spastic gait, Bruising susceptibility, Cervical platyspon... OMIM:230000
Osteogenesis Imperfecta, Type Xiii
Platyspondyly, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Kyphoscoliosis, Scoliosis OMIM:614856
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Abnormal form of the vertebral bodies, Abnormal dental enamel morphology, Congenital muscular tor... ORPHA:2916
4Q21 Microdeletion Syndrome
Intrauterine growth retardation, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:238750
Sandhoff Disease, Juvenile Form
Limb joint contracture, Skeletal muscle atrophy ORPHA:309162
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Scoliosis, Kyphosis ORPHA:1858
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Meacham Syndrome
Aplasia of the right hemidiaphragm, Death in childhood, Death in infancy, Neonatal death, Stillbi... OMIM:608978
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Tongue fasciculations, Vocal cord paresis, Decreased motor nerve conduction veloci... ORPHA:99949
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hump-shaped mound of bone in central and posterior portions of vertebral endplate,... OMIM:313400
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Periodic paralysis ORPHA:757
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Congenital Heart Block
Cyanosis ORPHA:60041
Acrofacial Dysostosis 1, Nager Type
Aganglionic megacolon, Abnormality of the cervical spine, Scoliosis, Congenital diaphragmatic hernia OMIM:154400
12Q14 Microdeletion Syndrome
Syringomyelia, Hypotonia, Scoliosis, Skeletal muscle atrophy ORPHA:94063
Lethal Congenital Contracture Syndrome Type 1
Short neck, Skeletal muscle atrophy, Abnormal form of the vertebral bodies ORPHA:1486
Bruck Syndrome
Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis, Kyphosis ORPHA:2771
Mullegama-Klein-Martinez Syndrome
Facial palsy, Scoliosis, Congenital diaphragmatic hernia OMIM:301022
Foodborne Botulism
Diaphragmatic paralysis, Paralysis, Cerebral palsy ORPHA:228371
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased sensory nerve conduction velocity, Decreased motor nerve conduction velocity, Skeletal ... OMIM:162400
Diastrophic Dysplasia
Hypoplastic cervical vertebrae, Abnormal form of the vertebral bodies, Camptodactyly of finger, H... ORPHA:628
Pelizaeus-Merzbacher Disease
Optic atrophy, Spasticity, Ataxia, Scoliosis, Kyphosis, Choreoathetosis ORPHA:702
Schaaf-Yang Syndrome
Arthrogryposis multiplex congenita, Neonatal hypotonia, Camptodactyly, Flexion contracture, Scoli... OMIM:615547
Cutis Laxa, Autosomal Recessive, Type Ib
Death in childhood, Congenital diaphragmatic hernia, Neonatal death, Hypoplasia of the diaphragm,... OMIM:614437
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Contractures of the large joints, Thoracic scoliosis OMIM:616716
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Glioblastoma
Paralysis ORPHA:360
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Short neck, Congenital diaphragmatic hernia OMIM:616546
Immunodeficiency 115 With Autoinflammation
Fatty replacement of skeletal muscle, Skeletal muscle atrophy, Lower limb muscle weakness OMIM:620632
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Spasticity, Abnormal form of the vertebral bodies, Camptodactyly of... ORPHA:354
Gm1-Gangliosidosis, Type I
Hypotonia, Death in infancy, Hypoplastic vertebral bodies, Short neck, Beaking of vertebral bodie... OMIM:230500
Myopathy With Lactic Acidosis, Hereditary
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Hypotonia, Rhabdomyolysi... OMIM:255125
Cog8-Cdg
Spontaneous hematomas, Skeletal muscle atrophy, Infantile muscular hypotonia ORPHA:95428
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Platyspondyly, Hypoplasia of the odontoid process, Skeletal muscle atrophy, Kyphoscoliosis, Short... OMIM:300232
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Waardenburg Syndrome Type 3
Spastic paraplegia, Acrocyanosis, Camptodactyly of finger ORPHA:896
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Decreased serum estradiol, Skeletal muscle atrophy, Decreased serum testosterone concentration, A... ORPHA:168563
Osteogenesis Imperfecta, Type Ix
Platyspondyly, Dentinogenesis imperfecta, Scoliosis, Kyphosis OMIM:259440
Srd5A3-Cdg
Optic atrophy, Abnormal sacrum morphology, Kyphosis, Ataxia ORPHA:324737
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Skeletal muscle atrophy, Hyperlordosis, Abnormal muscle fiber morphology ORPHA:3068
Myasthenia, Limb-Girdle, Autoimmune
Proximal amyotrophy, Type 2 muscle fiber atrophy, Fatigable weakness OMIM:159400
Pontocerebellar Hypoplasia, Type 17
Kyphosis, Paroxysmal dystonia, Limb hypertonia, Spastic tetraplegia, Axial hypotonia OMIM:619909
X-Linked Intellectual Disability Due To Gria3 Mutations
Spasticity, Myoclonus, Babinski sign, Facial hypotonia, Abnormality of muscle size, Scoliosis, Ky... ORPHA:364028
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Inguinal hernia, Kyphosis, Sacral dimple, Umbilical hernia OMIM:618272
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Contracture of the proximal interphalangeal joint of the 3rd finger, Congenital diaphragmatic her... OMIM:301044
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypotonia, Rhabdomyolysis, Fatigable weakness of neck muscles, Increased... ORPHA:26791
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Opisthotonus, Cyanosis, Hypertonia ORPHA:3304
Spondylometaphyseal Dysplasia, Kozlowski Type
Platyspondyly, Hypoplasia of the odontoid process, Vertebral wedging, Abnormality of the vertebra... ORPHA:93314
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Muscular dystrophy, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Cal... OMIM:253800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Hyperinsulinemia, Kyphosis, Hyperlordosis ORPHA:3085
Cockayne Syndrome Type 2
Progeroid facial appearance, Lower limb spasticity, Limb hypertonia, Flexion contracture, Scolios... ORPHA:90322
Hypomelanosis Of Ito
Scoliosis, Kyphosis OMIM:300337
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Ragged-red muscle fibers, Left ventricular hypertrophy, Achilles tendon ... OMIM:615418
Neuraminidase Deficiency
Hypotonia, Skeletal muscle atrophy, Generalized hypotonia OMIM:256550
Carey-Fineman-Ziter Syndrome 1
Hypoplasia of the musculature, Skeletal muscle atrophy, Generalized hypotonia, Pectoralis hypopla... OMIM:254940
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 2
Spinal dysraphism, Kyphosis, Generalized hypotonia, Hypotonia, Caudal interpedicular narrowing, S... OMIM:603546
Alg1-Cdg
Hypotonia, Scoliosis, Kyphosis ORPHA:79327
Marden-Walker Syndrome
Joint contracture of the hand, Congenital contracture, Decreased muscle mass, Generalized hypoton... OMIM:248700
Mucolipidosis Iii Gamma
Claw hand deformity, Short neck, Hyperlordosis, Finger joint contracture, Shoulder contracture, S... OMIM:252605
Mucopolysaccharidosis, Type Ivb
Platyspondyly, Cervical myelopathy, Hypoplasia of the odontoid process, Grayish enamel, Inguinal ... OMIM:253010
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Spasticity, Skeletal muscle atrophy, Neonatal hypotonia, Hypotonia, Short neck, Hypertonia, Axial... OMIM:615802
Aicardi-Goutieres Syndrome 1
Erythema, Spasticity, Acrocyanosis, Petechiae, Prolonged neonatal jaundice, Dystonia, Purpura, Ax... OMIM:225750
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Cervical spinal canal stenosis, Gener... ORPHA:508533
Infant Acute Respiratory Distress Syndrome
Cyanosis, Hypoxemia ORPHA:70587
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Bruising susceptibility, Generalized hypotonia, Fragile skin, Hyperlordosis, Scoliosis, Kyphosis OMIM:617821
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Optic atrophy, Hypotonia, Spasticity, Skeletal muscle atrophy OMIM:620089
Asbestos Intoxication
Oxygen desaturation on exertion, Hypoxemia, Cyanosis ORPHA:2302
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Hypotonia, Scoliosis, Kyphosis ORPHA:261144
Glycogen Storage Disease Iv
Arthrogryposis multiplex congenita, Flexion contracture, Skeletal muscle atrophy, Hypotonia OMIM:232500
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Spasticity, Skeletal muscle atrophy, Hypotonia, Facial diplegia, Dystonia OMIM:612073
Trisomy 20P
Platyspondyly, Abnormal form of the vertebral bodies, Camptodactyly of finger, Incoordination, Um... ORPHA:261318
Pelger-Huet Anomaly
Umbilical hernia, Foot dorsiflexor weakness, Kyphosis, Lower limb hypertonia OMIM:169400
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Dystonia, Spastic paraparesis, Scoliosis, Skeletal muscle atrophy OMIM:615157
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Optic atrophy, Spasticity, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Neurogeni... ORPHA:496641
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Congenitally Uncorrected Transposition Of The Great Arteries
Cyanosis, Hypoxemia, Right ventricular hypertrophy ORPHA:860
Trisomy 17P
Skeletal muscle atrophy, Hypotonia, Short neck, Hypertonia, Macroglossia, Flexion contracture, Sc... ORPHA:261290
Native American Myopathy
Progressive congenital scoliosis, Congenital contracture, Skeletal muscle atrophy, Muscle fiber a... ORPHA:168572
Carnitine Palmitoyl Transferase 1A Deficiency
Hypotonia, Skeletal muscle atrophy ORPHA:156
Leukodystrophy, Hypomyelinating, 10
Spasticity, Skeletal muscle atrophy, Axial hypotonia OMIM:616420
Fliedner-Zweier Syndrome
Tethered cord, Hypotonia, Hypertonia, Scoliosis, Kyphosis OMIM:620511
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Jaberi-Elahi Syndrome
Optic atrophy, Gait ataxia, Dysmetria, Appendicular spasticity, Tremor, Scoliosis, Kyphosis, Chor... OMIM:617988
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Periodic paralysis, Tremor OMIM:613239
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Fountain Syndrome
Erythema, Abnormal form of the vertebral bodies, Cutis marmorata, Spina bifida, Spina bifida occu... ORPHA:3219
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Spasticity, Skeletal muscle atrophy, Hypotonia, Thoracic kyphoscoliosis, Limb hypertonia, Flexion... ORPHA:481152
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Death in infancy, Excessive wrinkled s... OMIM:608779
Achondroplasia
Thoracolumbar kyphosis, Cervical spinal canal stenosis, Lumbar hyperlordosis, Infantile muscular ... ORPHA:15
Sandhoff Disease
Spasticity, Skeletal muscle atrophy, Hypotonia, Death in childhood, Orthostatic hypotension, Macr... OMIM:268800
Chromosome 3Q13.31 Deletion Syndrome
Hypotonia, Kyphosis OMIM:615433
C Syndrome
Congenital diaphragmatic hernia, Death in infancy, Short neck, Aplasia/Hypoplasia of the abdomina... ORPHA:1308
Lateral Meningocele Syndrome
Dural ectasia, Abnormal form of the vertebral bodies, Hypotonia, Syringomyelia, Short neck, Hyper... ORPHA:2789
Carnitine-Acylcarnitine Translocase Deficiency
Cyanosis, Rhabdomyolysis ORPHA:159
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Generalized hypotonia, Hypotonia, Orthostatic hypotension, Scoliosis, Acrocyanosis OMIM:223900
Pigmented Nodular Adrenocortical Disease, Primary, 1
Decreased circulating dehydroepiandrosterone concentration, Increased circulating cortisol level,... OMIM:610489
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Hypotonia, Myopathy, Facial palsy, Scoliosis, Aplasia of the pectoralis ... ORPHA:1358
Spinocerebellar Ataxia 36
Hypotonia, Skeletal muscle atrophy, Hypertonia OMIM:614153
Coffin-Lowry Syndrome
Optic atrophy, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Hypotonia, Death i... ORPHA:192
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Optic atrophy, Cyanosis OMIM:261680
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Mucopolysaccharidosis, Type Ii
Umbilical hernia, Cervical cord compression, Inguinal hernia, Short neck, Papilledema, Macrogloss... OMIM:309900
Developmental And Epileptic Encephalopathy 51
Hypotonia, Dystonia, Skeletal muscle atrophy OMIM:617339
Spondyloepiphyseal Dysplasia Congenita
Platyspondyly, Kyphosis, Lumbar hyperlordosis, Short neck, Spinal cord compression, Cervical inst... ORPHA:94068
Surfactant Metabolism Dysfunction, Pulmonary, 1
Cyanosis, Death in infancy, Neonatal death OMIM:265120
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1933
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Limb muscle weakness, Ra... OMIM:157640
Ruvalcaba Syndrome
Inguinal hernia, Scoliosis, Kyphosis OMIM:180870
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Spasticity, Generalized hypotonia, Hypotonia, Death in childhood, Death in infancy, Cyanosis, Hyp... OMIM:618426
Focal Dermal Hypoplasia
Optic atrophy, Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Inguinal herni... OMIM:305600
X-Linked Intellectual Disability, Seemanova Type
Hypoplasia of the musculature, Progressive spasticity, Skeletal muscle atrophy ORPHA:85323
Myotonia, Potassium-Aggravated
Skeletal muscle atrophy, Skeletal muscle hypertrophy OMIM:608390
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Adenylosuccinase Deficiency
Spasticity, Skeletal muscle atrophy, Generalized hypotonia, Hypotonia, Opisthotonus OMIM:103050
Spastic Paraplegia 9B, Autosomal Recessive
Spastic paraplegia, Spasticity, Skeletal muscle atrophy, Foot dorsiflexor weakness OMIM:616586
Mitochondrial Complex I Deficiency, Nuclear Type 37
Opisthotonus, Hypotonia, Skeletal muscle atrophy, Hypertonia OMIM:619272
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Lipodystrophy, Loss of subcutaneous adipose tissue in limbs, Joint contracture, Scoliosis, Kyphosis OMIM:615381
Anaplastic Thyroid Carcinoma
Abnormal skeletal muscle morphology, Vocal cord paralysis ORPHA:142
Non-Functioning Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:94080
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Optic atrophy, Arthrogryposis multiplex congenita, Skeletal muscle atrophy, Hypotonia, Lower limb... OMIM:617193
Ruijs-Aalfs Syndrome
Elbow flexion contracture, Thoracic kyphoscoliosis, Skeletal muscle atrophy, Premature graying of... OMIM:616200
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Optic atrophy, Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor fu... OMIM:617527
Subaortic Stenosis-Short Stature Syndrome
Short neck, Inguinal hernia, Scoliosis, Kyphosis ORPHA:3191
Rift Valley Fever
Hemiparesis, Paralysis, Paraparesis, Decerebrate rigidity, Back pain, Miscarriage ORPHA:319251
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Autosomal Recessive Spastic Paraplegia Type 9B
Spastic gait, Spasticity, Skeletal muscle atrophy, Kyphoscoliosis ORPHA:447760
Coffin-Siris Syndrome 1
Umbilical hernia, Gait ataxia, Congenital diaphragmatic hernia, Inguinal hernia, Spina bifida occ... OMIM:135900
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Tetraparesis, Astrocytosis, Myoclonus, Paralysis, Gliosis, Hypertonia, Ataxia, Scoliosis OMIM:203700
Thanatophoric Dysplasia
Platyspondyly, Hypotonia, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:2655
Alexander Disease
Ataxia, Spasticity, Chorea, Tremor, Short neck, Abnormal pyramidal sign, Clonus, Hyperlordosis, A... ORPHA:58
Hurler-Scheie Syndrome
Camptodactyly of finger, Umbilical hernia, Contracture of the distal interphalangeal joint of the... OMIM:607015
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Generalized hypotonia ORPHA:488627
Marfanoid-Progeroid-Lipodystrophy Syndrome
Dural ectasia, Bruising susceptibility, Progeroid facial appearance, Hypotonia, Reduced subcutane... OMIM:616914
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Sepsis In Premature Infants
Neonatal hypotonia, Cyanosis, Petechiae, Jaundice, Purpura ORPHA:90051
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Bruising susceptibility, Premature graying of hair, Limb muscle weakness... OMIM:112250
Pontocerebellar Hypoplasia, Type 7
Spastic paraplegia, Spasticity, Optic atrophy, Skeletal muscle atrophy, Hypotonia, Opisthotonus, ... OMIM:614969
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Idiopathic Pulmonary Fibrosis
Orthodeoxia, Acrocyanosis ORPHA:2032
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Hypotonia, Knee flexion contracture, Scoliosis, Sacral dimple ORPHA:435638
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Atrop... OMIM:607459
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Glycogen accumulation in muscle fiber lysosomes, Rhabdomyolysi... ORPHA:368
Glossopharyngeal Neuralgia
Abnormality of the cervical spine, Vocal cord paralysis, Abnormal glossopharyngeal nerve morpholo... ORPHA:221098
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Optic atrophy, Spasticity, Platyspondyly, Spastic tetraplegia, Rigidity... OMIM:618476
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic paralysis, Scoliosis, Periodic hypokalemic paresis ORPHA:37553
Distal Triplication 15Q
Hypotonia, Syringomyelia, Camptodactyly, Flexion contracture, Scoliosis, Kyphosis ORPHA:314588
Idiopathic Juvenile Osteoporosis
Vertebral compression fracture, Kyphosis ORPHA:85193
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Urban-Rogers-Meyer Syndrome
Short neck, Kyphosis, Camptodactyly of finger, Flexion contracture of toe ORPHA:3409
Pigmented Nodular Adrenocortical Disease, Primary, 2
Increased circulating cortisol level, Bruising susceptibility, Decreased circulating ACTH concent... OMIM:610475
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Scoliosis, Herniation of intervertebral nuclei, Fused cervical v... OMIM:157800
Mucopolysaccharidosis Type 4
Platyspondyly, Spinal canal stenosis, Abnormal dental enamel morphology, Grayish enamel, Hernia, ... ORPHA:582
Multiple Mitochondrial Dysfunctions Syndrome 7
Hypotonia, Cyanosis, Hypertonia, Dystonia, Axial hypotonia OMIM:620423
Mucopolysaccharidosis, Type Vii
Platyspondyly, Thoracolumbar kyphosis, Hypoplasia of the odontoid process, Anterior beaking of lo... OMIM:253220
Proteasome-Associated Autoinflammatory Syndrome 4
Myositis, Erythema, Flexion contracture, Skeletal muscle atrophy OMIM:619183
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Hypotonia, Congenital muscular torticollis, Sco... ORPHA:2215
Desbuquois Dysplasia 1
Platyspondyly, Generalized hypotonia, Hypotonia, Short neck, Hyperlordosis, Scoliosis, Kyphosis OMIM:251450
Distal 16P11.2 Microdeletion Syndrome
Aganglionic megacolon, Neonatal hypotonia, Kyphosis ORPHA:261222
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Hypotonia, Skeletal muscle atrophy ORPHA:127
Pseudoachondroplasia
Platyspondyly, Atlantoaxial dislocation, Hypoplasia of the odontoid process, Lumbar hyperlordosis... OMIM:177170
Shashi-Pena Syndrome
Hypotonia, Cervical C2/C3 vertebral fusion, Limb hypertonia, Scoliosis, Kyphosis OMIM:617190
Andersen Cardiodysrhythmic Periodic Paralysis
Periodic hypokalemic paresis, Enamel hypoplasia, Scapular winging, Scoliosis, Periodic paralysis OMIM:170390
Inhalational Botulism
Paralysis ORPHA:254504
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia ORPHA:31
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Familial Dysautonomia
Optic atrophy, Hypotonia, Orthostatic hypotension, Scoliosis, Acrocyanosis ORPHA:1764
Rhizomelic Syndrome, Urbach Type
Short neck, Kyphosis, Abnormal form of the vertebral bodies ORPHA:3098
Choreoacanthocytosis
Dystonia, Limb muscle weakness, Skeletal muscle atrophy OMIM:200150
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
Smith-Mccort Dysplasia 1
Platyspondyly, Hypoplasia of the odontoid process, Atlantoaxial instability, Short neck, Beaking ... OMIM:607326
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Platyspondyly, Thoracolumbar kyphosis, Elbow flexion contracture, Kyphoscoliosis, Abnormal curvat... ORPHA:93360
3C Syndrome
Optic atrophy, Inguinal hernia, Death in infancy, Short neck, Hemivertebrae, Scoliosis, Kyphosis ORPHA:7
Autosomal Recessive Spastic Paraplegia Type 20
Spasticity, Spastic paraparesis, Distal amyotrophy, Skeletal muscle atrophy, Upper limb muscle we... ORPHA:101000
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Cyanosis, Death in infancy, Neonatal death OMIM:610921
Microphthalmia With Linear Skin Defects Syndrome
Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Sacral dimple ORPHA:2556
Thanatophoric Dysplasia Type 2
Platyspondyly, Hypotonia, Kyphosis ORPHA:93274
Atrial Standstill
Left ventricular noncompaction, Muscular dystrophy, Flexion contracture, Skeletal muscle atrophy ORPHA:1344
Gitelman Syndrome
Paralysis, Chondrocalcinosis, Rhabdomyolysis, Ataxia OMIM:263800
Heart Defects, Congenital, And Other Congenital Anomalies
Inguinal hernia, Congenital diaphragmatic hernia, Aplasia of the left hemidiaphragm, Umbilical he... OMIM:600001
Tarp Syndrome
Optic atrophy, Scoliosis, Cyanosis, Generalized hypotonia ORPHA:2886
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Hypotonia, Flexion contracture, Skeletal muscle atrophy, Generalized hypotonia OMIM:300243
Trisomy 13
Hernia, Optic atrophy, Scoliosis, Kyphosis ORPHA:3378
Mucopolysaccharidosis Type 6
Hernia, Short neck, Macroglossia, Kyphosis, Ovoid vertebral bodies ORPHA:583
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
19P13.12 Microdeletion Syndrome
Arthrogryposis multiplex congenita, Hypotonia, Short neck, Scoliosis, Kyphosis ORPHA:254346
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Optic atrophy, Generalized hypotonia, Elbow flexion contracture, Hip contracture, Scoliosis, Kyph... OMIM:618493
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Spastic gait, Distal amyotrophy, Progressive spastic paraplegia ORPHA:2821
Encephalocraniocutaneous Lipomatosis
Spasticity, Hemiplegia, Rigidity, Hemiparesis, Paralysis, Multiple lipomas, Lipodystrophy, Tetrap... ORPHA:2396
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Hypotonia, Dystonia, Scoliosis OMIM:615471
Beckwith-Wiedemann Syndrome
Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Leiomyosarco... ORPHA:116
7Q31 Microdeletion Syndrome
Axial hypotonia, Scoliosis, Skeletal muscle atrophy, Torticollis ORPHA:251061
Clark-Baraitser syndrome
Scoliosis, Kyphosis OMIM:300602
Plaa-Associated Neurodevelopmental Disorder
Optic atrophy, Contractures of the large joints, Rigidity, Abnormality of extrapyramidal motor fu... ORPHA:521426
Diaphragmatic Hernia 4, With Cardiovascular Defects
Diaphragmatic eventration, Coronal cleft vertebrae, Aplasia of the left hemidiaphragm, Optic nerv... OMIM:620025
Difference Of Sex Development-Intellectual Disability Syndrome
Spina bifida occulta, Short neck, Kyphosis ORPHA:2983
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Hypotonia, Scoliosis, Kyphosis, Scapular winging OMIM:617061
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
3M Syndrome
Abnormal dental enamel morphology, Increased vertebral height, Short neck, Hyperlordosis, Scapula... ORPHA:2616
Hypermethioninemia Due To Adenosine Kinase Deficiency
Hypotonia, Skeletal muscle atrophy OMIM:614300
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Lethal Congenital Contracture Syndrome 2
Arthrogryposis multiplex congenita, Skeletal muscle atrophy OMIM:607598
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Frontometaphyseal Dysplasia 1
Ankle flexion contracture, Hypoplasia of the musculature, Skeletal muscle atrophy, Interphalangea... OMIM:305620
Structural Heart Defects And Renal Anomalies Syndrome
Cyanosis, Neonatal hypotonia, Death in infancy OMIM:617478
Tay-Sachs Disease
Optic atrophy, Skeletal muscle atrophy, Decerebrate rigidity, Hip flexor weakness, Lower limb mus... ORPHA:845
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Atlantoaxial instability, Skeletal muscle atrophy, Neonatal hypotonia, Bruising susceptibility, H... OMIM:614557
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Pseudoaminopterin Syndrome
Inguinal hernia, Posterolateral diaphragmatic hernia, Sacrococcygeal pilonidal abnormality ORPHA:221120
Arthrogryposis And Ectodermal Dysplasia
Joint contracture of the hand, Skeletal muscle atrophy, Kyphoscoliosis, Ectodermal dysplasia, Cam... OMIM:601701
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Camurati-Engelmann Disease
Skeletal muscle atrophy, Cranial nerve compression, Optic nerve compression, Reduced subcutaneous... OMIM:131300
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Spasticity, Thoracolumbar scoliosis, Hyperlordosis, Ataxia, Scoliosis, Kyphosis OMIM:618443
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Intrauterine growth retardation, Scoliosis, Kyphosis ORPHA:3121
Walker-Warburg Syndrome
Optic atrophy, Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeleta... ORPHA:899
Mosaic Trisomy 20
Spinal canal stenosis, Hypotonia, Vertebral segmentation defect, Abnormal spinal cord morphology,... ORPHA:1724
Poems Syndrome
Sclerotic vertebral endplates, Plethora, Papilledema, Acrocyanosis, Elevated vascular endothelial... ORPHA:2905
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Sting-Associated Vasculopathy, Infantile-Onset
Erythema, Skeletal muscle atrophy, Cutis marmorata, Myositis, Telangiectasia, Livedo reticularis OMIM:615934
Cushing Disease
Poor wound healing, Increased circulating cortisol level, Bruising susceptibility, Increased urin... ORPHA:96253
Fryns Syndrome
Joint contracture of the hand, Aganglionic megacolon, Short neck, Omphalocele, Stillbirth, Campto... OMIM:229850
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Spasticity, Skeletal muscle atrophy, Lower limb hypertonia, Hypotonia, Limb joint contracture, Fl... OMIM:301072
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Hernia of the abdominal wall, Short neck, Kyphosis ORPHA:3082
Eosinophilic Granulomatosis With Polyangiitis
Cutis marmorata, Myositis, Purpura, Acrocyanosis, Urticaria ORPHA:183
Aicardi-Goutières Syndrome
Spasticity, Spastic paraparesis, Extrapyramidal muscular rigidity, Cutis marmorata, Acrocyanosis,... ORPHA:51
Congenital Tricuspid Valve Dysplasia
Cyanosis, Hypoxemia, Right ventricular hypertrophy ORPHA:555874
Unilateral Polymicrogyria
Giant somatosensory evoked potentials, Cyanosis, Appendicular hypotonia, Spastic tetraplegia, Axi... ORPHA:268943
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
Hyperimmunoglobulinemia D With Periodic Fever
Erythema, Acrocyanosis, Purpura, Urticaria ORPHA:343
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Optic atrophy, Intention tremor, Dysmetria, Knee flexion contracture, Head titubation, Ataxia, Ky... OMIM:619708
Thanatophoric Dysplasia Type 1
Platyspondyly, Hypotonia, Excessive wrinkled skin, Abnormal sacroiliac joint morphology, Kyphosis ORPHA:1860
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Camptodactyly of finger, Generalized hypotonia, Hypotonia, Lower limb spasticity, ... ORPHA:261349
Micro Syndrome
Optic atrophy, Spasticity, Intrauterine growth retardation, Scoliosis, Kyphosis ORPHA:2510
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Short neck, Hyperlordosis, Macroglossia, Scoliosis, Kyphosis ORPHA:1798
Schwartz-Jampel Syndrome
Myopathy, Hip contracture, Short neck, Spinal rigidity, Blepharospasm, Inguinal hernia, Wrist fle... ORPHA:800
Simpson-Golabi-Behmel Syndrome, Type 1
Umbilical hernia, Diastasis recti, Congenital diaphragmatic hernia, Inguinal hernia, Vertebral se... OMIM:312870
Esophageal Atresia
Abnormal vertebral morphology, Hypotonia, Cyanosis, Hypertonia, Scoliosis ORPHA:1199
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neonatal hypotonia, Diastasis recti, Severe muscular hypotonia, Short ne... ORPHA:488632
Refsum Disease
Hypotonia, Skeletal muscle atrophy ORPHA:773
Weaver Syndrome
Spasticity, Joint contracture of the hand, Umbilical hernia, Diastasis recti, Inguinal hernia, Hy... OMIM:277590
Congenital Disorder Of Glycosylation, Type Il
Hypotonia, Short neck, Kyphosis OMIM:608776
Stickler Syndrome, Type I
Platyspondyly, Spondylolisthesis, Morbus Scheuermann, Beaking of vertebral bodies, Scoliosis, Kyp... OMIM:108300
Neu-Laxova Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2671
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Witteveen-Kolk Syndrome
Poor motor coordination, Congenital diaphragmatic hernia, Inguinal hernia, Contracture of the dis... OMIM:613406
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Spasticity, Hypotonia, Kyphoscoliosis, Hemivertebrae, Infantile muscular hypotonia, Macroglossia,... OMIM:301040
Trisomy 9P
Short neck, Scoliosis, Kyphosis, Sacral dimple ORPHA:236
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Opisthotonus, Hypotonia, Skeletal muscle atrophy, Generalized hypotonia OMIM:210210
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Subcutaneous hemorrhage, Hypotonia, Cutis marmorata, Myopathy, Telangiec... ORPHA:109
Hurler Syndrome
Hypoplasia of the odontoid process, Umbilical hernia, Inguinal hernia, Biconcave vertebral bodies... OMIM:607014
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Kyphoscoliotic Ehlers-Danlos Syndrome
Atlantoaxial instability, Congenital kyphoscoliosis, Skeletal muscle atrophy, Neonatal hypotonia,... ORPHA:536545
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Hypotonia, Scoliosis, Kyphosis, Camptodactyly of finger OMIM:619951
Werner Syndrome
Subcutaneous calcification, Skeletal muscle atrophy, Premature graying of hair, Telangiectasia of... ORPHA:902
Cornelia De Lange Syndrome
Short neck, Congenital diaphragmatic hernia, Hypertonia ORPHA:199
Noonan Syndrome 14
Bruising susceptibility, Hypotonia, Short neck, Scapular winging, Kyphosis OMIM:619745
X-Linked Intellectual Disability, Cabezas Type
Camptodactyly of finger, Inguinal hernia, Tremor, Short neck, Scoliosis, Kyphosis ORPHA:85293
Congenital Disorder Of Glycosylation, Type Ia
Kyphosis, Death in childhood, Tremor, Dysmetria, Death in infancy, Abnormal subcutaneous fat tiss... OMIM:212065
Cleft Palate-Congenital Heart Defect-Intellectual Disability Syndrome Due To 15Q14 Microdeletion
Inguinal hernia, Scoliosis, Kyphosis ORPHA:261190
Necrotizing Enterocolitis
Cyanosis ORPHA:391673
Meckel Syndrome 14
Short neck, Cyanosis OMIM:619879
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Neonatal hypotonia, Hypotonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:500055
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Hernia, Congenital diaphragmatic hernia, Umbilical hernia ORPHA:2255
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Myopathy OMIM:261740
Pallister-Killian Syndrome
Camptodactyly of 2nd-5th fingers, Umbilical hernia, Congenital diaphragmatic hernia, Inguinal her... OMIM:601803
Cole-Carpenter Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2050
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Ethylene Glycol Poisoning
Facial palsy, Cyanosis ORPHA:31826
Moebius Syndrome
Skeletal muscle atrophy, Hypotonia, Death in infancy, Facial palsy, Arthrogryposis multiplex cong... ORPHA:570
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia, Paralysis, Papilledema, Oculomotor aprax... ORPHA:2072
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Death in childhood, Generalized hypotonia OMIM:618252
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Vertebral segmentation defect, Aplasia/Hypoplas... ORPHA:2990
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Hypotonia, Scoliosis, Kyphosis ORPHA:404440
Recon Progeroid Syndrome
Livedo reticularis, Skeletal muscle atrophy, Cutaneous photosensitivity, Progeroid facial appearance OMIM:620370
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Platyspondyly, Thoracolumbar kyphosis, Thoracic platyspondyly, Hypotonia, Knee flexion contractur... OMIM:618019
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormality of the vertebral column, Hemivertebrae, Abnormal intervertebral disk morphology, Scol... ORPHA:2062
Microphthalmia, Lenz Type
Optic disc coloboma, Camptodactyly of finger, Hyperlordosis, Scoliosis, Kyphosis ORPHA:568
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Osteogenesis Imperfecta, Type Iii
Dentinogenesis imperfecta, Scoliosis, Kyphosis, Biconcave vertebral bodies OMIM:259420
Pulmonary Alveolar Microlithiasis
Cyanosis, Oxygen desaturation on exertion, Hypoxemia, Fatigable weakness ORPHA:60025
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral camptodactyly, Hypotonia, Scoliosis, Kyphosis OMIM:619557
Donohue Syndrome
Hyperinsulinemia, Skeletal muscle atrophy OMIM:246200
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Harrod Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis ORPHA:2115
Choanal Atresia
Cyanosis ORPHA:137914
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Spasticity, Intrauterine growth retardation, Tremor, Prominent protruding coccyx, Short neck, Pro... OMIM:300966
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Platyspondyly, Lumbar hyperlordosis, Neonatal death, Palmoplantar cutis laxa, Kyphosis OMIM:616482
Rett Syndrome, Congenital Variant
Spasticity, Chorea, Apraxia, Athetosis, Scoliosis, Kyphosis OMIM:613454
Dyggve-Melchior-Clausen Disease
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Short neck, Beaking of v... OMIM:223800
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:1969
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypotonia, Rhabdomyolysis, Limb-girdle muscle weakness, Pelvic girdle mu... ORPHA:79240
Marfanoid Habitus With Situs Inversus
Scoliosis, Kyphosis OMIM:609008
Combined Oxidative Phosphorylation Deficiency 55
Hypotonia, Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy OMIM:619743
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Intrauterine growth retardation, Scoliosis, Kyphosis, Vertebral segmentation defect ORPHA:1005
Cole-Carpenter Syndrome 2
Platyspondyly, Hypotonia, Kyphosis OMIM:616294
Complete Atrioventricular Septal Defect
Cyanosis, Right ventricular hypertrophy ORPHA:1329
Pitt-Hopkins Syndrome
Hypotonia, Aganglionic megacolon, Short neck, Scoliosis, Acrocyanosis ORPHA:2896
Pycnodysostosis
Spondylolysis, Intrauterine growth retardation, Spondylolisthesis, Hyperlordosis, Upper motor neu... ORPHA:763
Pulmonary Arteriovenous Malformation
Telangiectasia, Cyanosis, Hypoxemia ORPHA:2038
Cono-Spondylar Dysplasia
Short neck, Poor coordination, Scoliosis, Kyphosis ORPHA:420794
Marshall-Smith Syndrome
Atlantoaxial dislocation, Hypoplasia of the odontoid process, Optic nerve hypoplasia, Hypotonia, ... OMIM:602535
Koolen-De Vries Syndrome
Generalized hypotonia, Spondylolisthesis, Hypotrophy of the small hand muscles, Vertebral fusion,... OMIM:610443
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Decreased serum estradiol, Small hypothenar eminence, Decreased serum testosterone concentration,... ORPHA:2232
Marden-Walker Syndrome
Aplasia/Hypoplasia involving the skeletal musculature, Muscular dystrophy, Skeletal muscle atroph... ORPHA:2461
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Cockayne Syndrome Type 3
Skeletal muscle atrophy, Astrocytosis, Abnormality of peripheral nerve conduction, Intention trem... ORPHA:90324
Prader-Willi Syndrome
Neonatal hypotonia, Decreased muscle mass, Generalized hypotonia, Hyperinsulinemia, Cutaneous pho... OMIM:176270
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Inguinal hernia, Scoliosis, Kyphosis OMIM:616449
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, R... OMIM:146500
Cockayne Syndrome
Optic atrophy, Spasticity, Skeletal muscle atrophy, Congenital contracture, Contractures of the l... ORPHA:191
Camurati-Engelmann Disease
Optic atrophy, Skeletal muscle atrophy, Abnormality of the vertebral column, Optic nerve compress... ORPHA:1328
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Koolen-De Vries Syndrome
Hypotonia, Vertebral segmentation defect, Vertebral fusion, Scoliosis, Kyphosis ORPHA:96169
Chilton-Okur-Chung Neurodevelopmental Syndrome
Aplasia of the right hemidiaphragm, Limb hypertonia, Limb tremor, Poor coordination, Scoliosis, S... OMIM:619841
Sporadic Pheochromocytoma/Secreting Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:276621
2Q31.1 Microdeletion Syndrome
Optic disc coloboma, Camptodactyly of finger, Hypotonia, Vertebral segmentation defect, Short nec... ORPHA:251014
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Cyanosis ORPHA:99106
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Dural ectasia, Neonatal hypotonia, Cervical spinal canal stenosis, Hypotonia, Spon... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Dural ectasia, Neonatal hypotonia, Cervical spinal canal stenosis, Hypotonia, Spon... ORPHA:363958
Cowden Syndrome 5
Scoliosis, Kyphosis, Subcutaneous lipoma, Intention tremor OMIM:615108
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Increased variability in muscle fiber diameter, Skeletal muscle atrophy, Ragged-red muscle fibers... ORPHA:17
Leigh Syndrome
Optic atrophy, Spasticity, Skeletal muscle atrophy, Multiple joint contractures, Myopathy, Infant... ORPHA:506
Aspartylglucosaminuria
Platyspondyly, Spondylolysis, Spasticity, Generalized hypotonia, Hypotonia, Spondylolisthesis, Be... OMIM:208400
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia OMIM:618280
Megalocornea-Intellectual Disability Syndrome
Hypotonia, Scoliosis, Kyphosis ORPHA:2479
Criss-Cross Heart
Cyanosis ORPHA:1461
Orofaciodigital Syndrome Iii
Myoclonus, Kyphosis OMIM:258850
African Trypanosomiasis
Involuntary movements, Myelitis, Myelopathy, Fasciculations, Abnormal central motor function, Tre... ORPHA:3385
Cowden Syndrome 6
Scoliosis, Kyphosis, Subcutaneous lipoma, Intention tremor OMIM:615109
Dermatomyositis
Erythema, Shawl sign, V-sign, Hypotonia, Inflammatory myopathy, Myositis, Facial erythema, Limb-g... ORPHA:221
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Kyphosis, Elevated circulating ... OMIM:300942
Graft Versus Host Disease
Myositis, Jaundice, Skeletal muscle atrophy, Dupuytren contracture ORPHA:39812
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Scoliosis, Cyanosis, Abnormal autonomic nervous system physiology, Generalized hypotonia ORPHA:293987
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Elbow flexion contracture, Hypotonia, Knee flexion contracture, Hip contracture, Short neck, Hype... OMIM:619194
Farber Disease
Flexion contracture, Skeletal muscle atrophy, Infantile muscular hypotonia, Spasticity ORPHA:333
Localized Scleroderma
Erythema, Flexion contracture, Skeletal muscle atrophy, Myopathy ORPHA:90289
Telangiectasia, Hereditary Hemorrhagic, Type 1
Tongue telangiectasia, Nail bed telangiectasia, Spinal arteriovenous malformation, Nasal mucosa t... OMIM:187300
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Hypotonia, Kyphosis OMIM:619244
Telangiectasia, Hereditary Hemorrhagic, Type 4
Tongue telangiectasia, Spinal arteriovenous malformation, Nasal mucosa telangiectasia, Cyanosis, ... OMIM:610655
Mucolipidosis Iii Alpha/Beta
Kyphosis, Inguinal hernia, Scoliosis, Spondylolisthesis OMIM:252600
Alkaptonuria
Thickened Achilles tendon, Intervertebral disk degeneration, Low back pain, Vertebral fusion, Kyp... OMIM:203500
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Duane Retraction Syndrome
Blepharospasm, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck, Campto... ORPHA:233
Osteogenesis Imperfecta, Type Iv
Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis, Kyphosis OMIM:166220
Absence Of The Pulmonary Artery
Hypocapnia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:980
Telangiectasia, Hereditary Hemorrhagic, Type 2
Oral cavity telangiectasia, Palmar telangiectasia, Tongue telangiectasia, Nail bed telangiectasia... OMIM:600376
Cardiogenic Shock
Cyanosis, Hypoxemia ORPHA:97292
Classical-Like Ehlers-Danlos Syndrome Type 2
Bruising susceptibility, Prominent veins on trunk, Hypotonia, Thoracic scoliosis, Kyphoscoliosis,... ORPHA:536532
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Gait ataxia, Scoliosis, Kyphosis, Tremor ORPHA:476126
Holt-Oram Syndrome
Scoliosis, Kyphosis ORPHA:392
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Increased sarcoplasmic glycogen, Hypotonia, Skeletal muscle atrophy ORPHA:264580
Magel2-Related Prader-Willi-Like Syndrome
Neonatal hypotonia, Infantile muscular hypotonia, Flexion contracture, Scoliosis, Kyphosis ORPHA:398069
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency
Optic atrophy, Hemiplegia/hemiparesis, Hernia, Scoliosis, Kyphosis ORPHA:394
Mucolipidosis Type Ii
Diastasis recti, Appendicular hypotonia, Hip contracture, Knee flexion contracture, Left ventricu... ORPHA:576
Histiocytoid Cardiomyopathy
Optic atrophy, Cyanosis ORPHA:137675
Basel-Vanagaite-Smirin-Yosef Syndrome
Spasticity, Contracture of the proximal interphalangeal joint of the 3rd finger, Inguinal hernia,... ORPHA:464738
Pineoblastoma
Paralysis, Papilledema ORPHA:251909
Spondyloperipheral Dysplasia
Platyspondyly, Short neck, Kyphosis, Ovoid vertebral bodies, Irregular vertebral endplates OMIM:271700
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Abnormal form of the vertebral bodies, Myopathy, Hip contracture, Posterior scalloping of vertebr... ORPHA:3042
Pontocerebellar Hypoplasia Type 7
Optic atrophy, Spasticity, Skeletal muscle atrophy, Fatigable weakness of skeletal muscles, Hypot... ORPHA:284339
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Kyphosis, Neonatal hypotonia, Generalized hypotonia, Left ventricular noncompaction, Hypotonia, K... OMIM:300967
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Periodic hypokalemic paresis OMIM:259730
16Q24.3 Microdeletion Syndrome
Scoliosis, Kyphosis, Optic nerve hypoplasia ORPHA:261250
Cohen Syndrome
Optic atrophy, Hypotonia, Scoliosis, Kyphosis ORPHA:193
Cowden Syndrome 1
Scoliosis, Kyphosis, Subcutaneous lipoma, Intention tremor OMIM:158350
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Hypotonia, Prolonged neonatal jaundice, Jaundice, Dystonia OMIM:256810
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Monosomy 9Q22.3
Abnormality of the vertebral column, Hypotonia, Short neck, Rhabdomyosarcoma, Kyphosis ORPHA:77301
Osteogenesis Imperfecta, Type Viii
Platyspondyly, Dentinogenesis imperfecta, Inguinal hernia, Vertebral compression fracture, Scolio... OMIM:610915
Intellectual Developmental Disorder, Autosomal Dominant 57
Generalized hypotonia, Scoliosis, Kyphosis, Contracture of the proximal interphalangeal joint of ... OMIM:618050
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Scoliosis, Skeletal muscle atrophy OMIM:615895
Cerebrocostomandibular Syndrome
Intrauterine growth retardation, Spina bifida, Kyphosis, Death in infancy ORPHA:1393
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Gitelman Syndrome
Paralysis, Chondrocalcinosis, Rhabdomyolysis ORPHA:358
Steinert Myotonic Dystrophy
Abnormality of the tongue muscle, Distal amyotrophy, Skeletal muscle atrophy, Neonatal hypotonia,... ORPHA:273
Hereditary Pheochromocytoma-Paraganglioma
Vocal cord paralysis, Tremor, Cranial nerve compression ORPHA:29072
Intellectual Developmental Disorder, Autosomal Dominant 73
Spasticity, Lumbar hyperlordosis, Inguinal hernia, Knee flexion contracture, Apraxia, Thoracolumb... OMIM:620450
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Scoliosis, Kyphosis, Death in childhood OMIM:619005
Schinzel-Giedion Syndrome
Spasticity, Umbilical hernia, Inguinal hernia, Kyphoscoliosis, Aganglionic megacolon, Short neck,... ORPHA:798
Osteoporosis-Pseudoglioma Syndrome
Platyspondyly, Hypotonia, Biconcave vertebral bodies, Kyphoscoliosis, Severe platyspondyly, Verte... OMIM:259770
Van Esch-O'Driscoll Syndrome
Spasticity, Unilateral vocal cord paralysis, Intrauterine growth retardation, Spina bifida occult... OMIM:301030
X-Linked Intellectual Disability, Snyder Type
Involuntary movements, Decreased muscle mass, Myoclonus, Kyphoscoliosis, Camptodactyly, Kyphosis ORPHA:3063
Heterotaxy, Visceral, 1, X-Linked
Block vertebrae, Absence of the sacrum, Cyanosis OMIM:306955
Mgat2-Cdg
Hypotonia, Scoliosis, Kyphosis, Generalized hypotonia ORPHA:79329
Spondyloenchondrodysplasia
Platyspondyly, Spasticity, Chorea, Kyphosis ORPHA:1855
Cockayne Syndrome A
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Decreased nerve co... OMIM:216400
Classical Ehlers-Danlos Syndrome
Poor wound healing, Bruising susceptibility, Hypotonia, Ecchymosis, Fragile skin, Orthostatic hyp... ORPHA:287
Robinow Syndrome, Autosomal Dominant 3
Short neck, Omphalocele, Camptodactyly, Scoliosis, Kyphosis, Sacral dimple OMIM:616894
Cockayne Syndrome B
Optic atrophy, Atypical scarring of skin, Abnormal auditory evoked potentials, Decreased nerve co... OMIM:133540
Hyperoxaluria, Primary, Type I
Optic atrophy, Cutis marmorata, Acrocyanosis, Optic neuropathy OMIM:259900
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Contracture of the proximal interphalangeal joint of the 3rd finger, Short neck, Hemivertebrae, C... OMIM:618223
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Ankle flexion contracture, Abnormality of the cervical spine, Flexion contracture of finger, Opti... ORPHA:464311
Spondyloarthropathy, Susceptibility To, 1
Sacroiliac arthritis, Kyphosis, Back pain, Enthesitis OMIM:106300
Coffin-Lowry Syndrome
Hypotonia, Cutis marmorata, Lumbar kyphosis, Acrocyanosis, Scoliosis, Kyphosis OMIM:303600
Autosomal Recessive Robinow Syndrome
Camptodactyly of finger, Umbilical hernia, Inguinal hernia, Death in infancy, Vertebral segmentat... ORPHA:1507
Frank-Ter Haar Syndrome
Hypotonia, Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Prominent coccyx, Camptodact... OMIM:249420
Hajdu-Cheney Syndrome
Hypoplastic 5th lumbar vertebrae, Umbilical hernia, Inguinal hernia, Biconcave vertebral bodies, ... ORPHA:955
Pseudoxanthoma Elasticum, Forme Fruste
Scoliosis, Kyphosis OMIM:177850
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Flexion contracture, Skeletal muscle atrophy, Fragile skin ORPHA:89842
Campomelic Dysplasia
Short neck, Scoliosis, Kyphosis, Poorly ossified cervical vertebrae ORPHA:140
Shprintzen Omphalocele Syndrome
Generalized hypotonia, Hypotonia, Lumbar hyperlordosis, Scoliosis, Kyphosis OMIM:182210
Marfan Syndrome
Dural ectasia, Skeletal muscle atrophy, Hypotonia, Spondylolisthesis, Scoliosis, Kyphosis ORPHA:558
Cardiofacioneurodevelopmental Syndrome
Camptodactyly, Kyphosis OMIM:619123
Mend Syndrome
Abnormal auditory evoked potentials, Generalized hypotonia, Limb hypertonia, Kyphosis, Sacral dimple ORPHA:401973
Paget Disease Of Bone 5, Juvenile-Onset
Hypotonia, Kyphosis OMIM:239000
Intellectual Developmental Disorder, Autosomal Dominant 54
Hyperkinetic movements, Lower limb spasticity, Vocal cord paralysis, Ataxia, Athetoid cerebral palsy OMIM:617799
Dyrk1A-Related Intellectual Disability Syndrome
Multiple joint contractures, Abnormality of the cervical spine, Optic disc pallor, Scoliosis, Kyp... ORPHA:464306
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Skeletal muscle atrophy, Generalized hypotonia, Camptodactyly, Flexion contracture... OMIM:309590
Proteasome-Associated Autoinflammatory Syndrome 1
Erythema, Skeletal muscle atrophy, Elevated circulating thyroid-stimulating hormone concentration... OMIM:256040
Osteogenesis Imperfecta
Dentinogenesis imperfecta, Cervical kyphosis, Abnormal form of the vertebral bodies, Tetraparesis... ORPHA:666
Zttk Syndrome
Optic atrophy, Spasticity, Neonatal hypotonia, Hypotonia, Hemivertebrae, Flexion contracture, Sco... OMIM:617140
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Primary Hyperoxaluria
Optic atrophy, Optic disc pallor, Cutis marmorata, Acrocyanosis ORPHA:416
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Hypotonia, Lumbar hyperlordosis, Kyphoscoliosis, Facial hypotonia, Kyphosis ORPHA:457359
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Camptodactyly of finger, Lumbar hyperlordosis, Intervertebral space narrowing, Narrow vertebral i... OMIM:143095
Lenz-Majewski Hyperostotic Dwarfism
Hypotonia, Prematurely aged appearance, Facial palsy, Scoliosis, Kyphosis ORPHA:2658
Stickler Syndrome
Platyspondyly, Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Spinal canal steno... ORPHA:828
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Spastic tetraplegia, Spasticity, Cerebral palsy, Intrauterine growth retardation, Spastic diplegi... OMIM:619475
Atelis Syndrome 2
Elevated circulating thyroid-stimulating hormone concentration, Hyperinsulinemia, Kyphosis, Sacra... OMIM:620185
Atypical Werner Syndrome
Subcutaneous calcification, Skeletal muscle atrophy, Abnormal circulating leptin concentration, P... ORPHA:79474
Hutchinson-Gilford Progeria Syndrome
Premature skin wrinkling, Generalized abnormality of skin, Cyanosis, Prominent superficial blood ... ORPHA:740
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Ramon Syndrome
Angiokeratoma, Telangiectasia, Optic disc pallor, Scoliosis, Kyphosis OMIM:266270
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Inguinal hernia, Kyphosis OMIM:609944
Wrinkly Skin Syndrome
Hypoplasia of the musculature, Progeroid facial appearance, Hypotonia, Neonatal wrinkled skin of ... OMIM:278250
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Nijmegen Breakage Syndrome
Short neck, Rhabdomyosarcoma, Skeletal muscle atrophy, Cutaneous photosensitivity ORPHA:647
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Hypotonia, Scoliosis, Hyperlordosis OMIM:617011
Leprechaunism
Skeletal muscle atrophy, Hyperaldosteronism, Hyperinsulinemia, Reduced subcutaneous adipose tissu... ORPHA:508
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Vasculitis in the skin, Abnormality of the peripheral nervous ... ORPHA:48435
Hypermobile Ehlers-Danlos Syndrome
Bruising susceptibility, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal... ORPHA:285
Wolf-Hirschhorn Syndrome
Tethered cord, Abnormal form of the vertebral bodies, Decreased muscle mass, Generalized hypotoni... OMIM:194190
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Mend Syndrome
Sacral dimple, Hypotonia, Hypertonia, Kyphosis, Axial hypotonia OMIM:300960
Pierson Syndrome
Hypotonia, Skeletal muscle atrophy, Death in childhood OMIM:609049
Cleidocranial Dysplasia 1
Spondylolysis, Spondylolisthesis, Syringomyelia, Scoliosis, Kyphosis OMIM:119600
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Inguinal hernia, Gliosis, Hypertonia, Ataxia, Scoliosis, Kyphosis, Sacral dimple ORPHA:268261
Intellectual Developmental Disorder, X-Linked 112
Scoliosis, Kyphosis, Kyphoscoliosis OMIM:301111
Lysinuric Protein Intolerance
Hypotonia, Skeletal muscle atrophy OMIM:222700
1P36 Deletion Syndrome
Optic atrophy, Spinal canal stenosis, Camptodactyly of finger, Hypotonia, Myopathy, Telangiectasi... ORPHA:1606
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Angioedema, Cutis marmorata, Vasculitis in the skin, Urticaria ORPHA:3260
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
Occipital Horn Syndrome
Platyspondyly, Atypical scarring of skin, Keloids, Inguinal hernia, Hiatus hernia, Scarring, Femo... ORPHA:198
Cowden Syndrome
Lipoma, Ataxia, Macroglossia, Scoliosis, Kyphosis ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Platyspondyly, Atypical scarring of skin, Umbilical hernia, Abnormal dental enamel morphology, In... ORPHA:534
Acrofacial Dysostosis, Cincinnati Type
Abnormality of coordination, Myoclonus, Inguinal hernia, Syringomyelia, Lower limb spasticity, Vo... OMIM:616462
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Scoliosis, Kyphosis OMIM:619718
Williams Syndrome
Macroglossia, Spasticity, Involuntary movements, Abnormal form of the vertebral bodies, Umbilical... ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Abnormal vertebral morphology, Platyspondyly, Erythema, Abnormality of the vertebral column, Camp... ORPHA:2273
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Occipital Horn Syndrome
Platyspondyly, Hiatus hernia, Kyphosis, Orthostatic hypotension OMIM:304150
Lowe Oculocerebrorenal Syndrome
Platyspondyly, Joint contracture of the hand, Neonatal hypotonia, Camptodactyly of finger, Hypoto... OMIM:309000
Cdags Syndrome
Kyphosis OMIM:603116
Truncus Arteriosus
Cyanosis, Right ventricular hypertrophy ORPHA:3384
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Hypotonia, Scoliosis, Kyphosis OMIM:619482
Generalized Arterial Calcification Of Infancy
Myocardial calcification, Cyanosis, Fused cervical vertebrae ORPHA:51608
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Lymphedema-Distichiasis Syndrome
Cellulitis, Kyphosis OMIM:153400
Alstrom Syndrome
Hyperinsulinemia, Scoliosis, Kyphosis OMIM:203800
Degcags Syndrome
Hiatus hernia, Vocal cord paralysis, Sacral dimple, Diaphragmatic eventration OMIM:619488
Leprosy
Abnormal seventh cranial physiology, Skeletal muscle atrophy, Foot dorsiflexor weakness, Abnormal... ORPHA:548
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Immunodeficiency 31C
Skeletal muscle atrophy OMIM:614162
17Q11 Microdeletion Syndrome
Dural ectasia, Elevated circulating parathyroid hormone level, Abnormality of the vertebral colum... ORPHA:97685
Tsh-Secreting Pituitary Adenoma
Periodic hypokalemic paresis, Tremor ORPHA:91347
Primrose Syndrome
Distal amyotrophy, Skeletal muscle atrophy, Hypotonia, Hip contracture, Knee flexion contracture,... OMIM:259050
Acromegaly
Macroglossia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:963
Bardet-Biedl Syndrome
Spasticity, Skeletal muscle atrophy, Aganglionic megacolon, Short neck, Neurogenic bladder ORPHA:110
Cystinosis, Nephropathic
Oral motor hypotonia, Skeletal muscle atrophy, Myopathy OMIM:219800
Somatomammotropinoma
Macroglossia, Spinal canal stenosis, Kyphosis, Cerebral palsy ORPHA:314769
Hydrolethalus Syndrome 1
Agenesis of the diaphragm, Omphalocele, Stillbirth OMIM:236680
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Abnormal dental enamel morphology, Kyphosis ORPHA:85199
Neurofibromatosis Type 1
Multiple lipomas, Ataxia, Rhabdomyosarcoma, Scoliosis, Kyphosis ORPHA:636
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Sotos Syndrome
Abnormal vertebral morphology, Ankle flexion contracture, Umbilical hernia, Inguinal hernia, Trem... ORPHA:821
Proteus Syndrome
Abnormal form of the vertebral bodies, Decreased muscle mass, Myofibrillar myopathy, Abnormal den... ORPHA:744
Viss Syndrome
Bruising susceptibility, Hypotonia, Butterfly vertebrae, Right ventricular hypertrophy, Contractu... OMIM:619472
Turner Syndrome Due To Structural X Chromosome Anomalies
Hyperinsulinemia, High urinary gonadotropin level, Short neck, Increased circulating gonadotropin... ORPHA:99413
Mosaic Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Short neck, Increased circulating gonadotropin... ORPHA:99228
Monosomy X
Hyperinsulinemia, High urinary gonadotropin level, Short neck, Increased circulating gonadotropin... ORPHA:99226
Turner Syndrome
Hyperinsulinemia, High urinary gonadotropin level, Short neck, Increased circulating gonadotropin... ORPHA:881
Williams-Beuren Syndrome
Umbilical hernia, Incoordination, Inguinal hernia, Kyphoscoliosis, Vocal cord paralysis, Poor coo... OMIM:194050
Goodpasture Syndrome
Cyanosis OMIM:233450
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Branchiooculofacial Syndrome
Atypical scarring of skin, Elbow flexion contracture, Short neck, Hyperlordosis, Facial palsy, Ky... OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Platyspondyly, Hypoplasia of the odontoid process, Lumbar hyperlordosis, Anterior wedging of T11,... OMIM:300106
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125
Yunis-Varon Syndrome
Hypotonia, Kyphosis, Anterior concavity of thoracic vertebrae OMIM:216340
Alström Syndrome
Elevated circulating thyroid-stimulating hormone concentration, Decreased circulating T4 concentr... 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 Chat

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 Chat.

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

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MGI Allele Allele Type Produced
Chattm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Chattm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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