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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, Arthrogryp... OMIM:254210
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... 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
Hyperactivity, Attention deficit hyperactivity disorder OMIM:143465
Attention Deficit-Hyperactivity Disorder 8
Attention deficit hyperactivity disorder OMIM:619957
Schizophrenia 15
Hyperactivity OMIM:613950
Autism, Susceptibility To, X-Linked 4
Motor tics, Attention deficit hyperactivity disorder, Impulsivity, Aggressive behavior OMIM:300830
22q13 deletion syndrome (Phelan-Mcdermid syndrome)
Hyperactivity DECIPHER:20
Attention Deficit-Hyperactivity Disorder, Susceptibility To, 7
Attention deficit hyperactivity disorder OMIM:613003
Gilles De La Tourette Syndrome
Aggressive behavior, Phonic tics, Attention deficit hyperactivity disorder, Compulsive behaviors,... OMIM:137580
Potocki-Lupski syndrome (17p11.2 duplication syndrome)
Hyperactivity DECIPHER:19
Autism, Susceptibility To, 20
Attention deficit hyperactivity disorder, Compulsive behaviors OMIM:618830
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
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Miyoshi Myopathy
Distal lower limb amyotrophy, Tibialis anterior muscle atrophy, Tibialis muscle weakness, Quadric... ORPHA:45448
Epidermolysis Bullosa With Diaphragmatic Hernia
Neonatal death, Congenital diaphragmatic hernia OMIM:226735
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Charcot-Marie-Tooth Disease, Axonal, Type 2D
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:601472
Congenital Myasthenic Syndromes With Glycosylation Defect
Scapular winging, Lumbar hyperlordosis, Abnormal peripheral nervous system synaptic transmission,... ORPHA:353327
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate current... OMIM:616321
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Hypotonia, Scoliosis OMIM:614750
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Intellectual Developmental Disorder, Autosomal Recessive 37
Hyperactivity, Bruxism, Aggressive behavior OMIM:615493
Hereditary Continuous Muscle Fiber Activity
Ataxia, Congenital diaphragmatic hernia, Slurred speech, Type 1 muscle fiber predominance, Spasti... ORPHA:972
Hernia, Anterior Diaphragmatic
Neonatal death, Congenital diaphragmatic hernia OMIM:306950
Spastic Paraplegia 18B, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Kyphosis, Babinski sign, Spastic paraplegia, Ankl... OMIM:611225
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Hypotonia, Prolonged miniature endplate currents, Type 2 mu... OMIM:603034
Delta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R6
Scapular winging, Facial palsy, Generalized limb muscle atrophy, Proximal upper limb amyotrophy, ... ORPHA:219
Adenylosuccinate Synthetase-Like 1-Related Distal Myopathy
Distal lower limb amyotrophy, Quadriceps muscle atrophy, Quadriceps muscle weakness, Upper limb a... ORPHA:482601
Smith-Magenis syndrome
Hyperactivity, Abnormal repetitive mannerisms, Self-mutilation DECIPHER:8
Spastic Paraplegia 38, Autosomal Dominant
Lower limb spasticity, Thenar muscle atrophy, Thenar muscle weakness, Spastic paraplegia, Distal ... OMIM:612335
Ank3-Related Intellectual Disability-Sleep Disturbance Syndrome
Hyperactivity, Bruxism, Aggressive behavior ORPHA:356996
Lethal Congenital Contracture Syndrome 3
Neonatal death, Skeletal muscle atrophy, Multiple joint contractures, Arthrogryposis multiplex co... OMIM:611369
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 5
Thenar muscle atrophy, Thenar muscle weakness, Upper limb amyotrophy, Upper limb muscle weakness,... OMIM:600794
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Spinal muscular atrophy, Hyperlordosis, Scapuloperoneal a... OMIM:611067
Spinal Muscular Atrophy, Scapuloperoneal
Scapular muscle atrophy, Spinal muscular atrophy, Peroneal muscle atrophy OMIM:271220
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Spastic dysarthria, Abnormal upper motor neuron mo... ORPHA:247604
Autosomal Recessive Spastic Paraplegia Type 62
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Knee flexion contracture, Spa... ORPHA:401785
Spastic Paraplegia 62, Autosomal Recessive
Skeletal muscle atrophy, Thoracic scoliosis, Lower limb spasticity, Spasticity, Spastic gait OMIM:615681
Spastic Paraplegia 77, Autosomal Recessive
Upper limb muscle weakness, Lower limb amyotrophy, Spastic paraplegia, Lower limb muscle weakness OMIM:617046
Intellectual Developmental Disorder, Autosomal Recessive 2
Self-injurious behavior, Attention deficit hyperactivity disorder OMIM:607417
Myasthenic Syndrome, Congenital, 18
Fatigable weakness, Ataxia, Difficulty walking OMIM:616330
Postsynaptic Congenital Myasthenic Syndromes
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Cyanosis, Facial palsy, Triceps weakness, Weakn... ORPHA:98913
Spinal Muscular Atrophy, Lower Extremity-Predominant, 1, Autosomal Dominant
Type 2 muscle fiber predominance, Proximal muscle weakness in lower limbs, Proximal lower limb am... OMIM:158600
Charcot-Marie-Tooth Disease, Axonal, Type 2Ff
Distal lower limb amyotrophy, Decreased compound muscle action potential amplitude, Weak grip, Di... OMIM:619519
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 8
Distal lower limb amyotrophy, Hip contracture, Nonprogressive muscular atrophy, Spinal muscular a... OMIM:600175
Myasthenic Syndrome, Congenital, 25, Presynaptic
Severe muscular hypotonia, Spinal rigidity, Kyphosis, Decreased compound muscle action potential ... OMIM:618323
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paresis, Distal amyotrophy, Vocal cord paralysis OMIM:158580
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Hypotonia, Type 2 muscle fiber atrophy, Scoliosis, Neonatal hypotonia, Weakness of ... OMIM:608930
Intellectual Developmental Disorder, X-Linked 72
Hyperactivity, Abnormal repetitive mannerisms OMIM:300271
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Difficulty walking OMIM:616227
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Mitochondrial Myopathy With Diabetes
Facial palsy, Ragged-red muscle fibers, Limb muscle weakness, Hypotonia, Proximal amyotrophy, Wea... OMIM:500002
Charcot-Marie-Tooth Disease, Axonal, Type 2Ii
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decreased motor nerve cond... OMIM:620068
Myopathy, Distal, With Rimmed Vacuoles
Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa... OMIM:617158
Congenital Myopathy 23
Skeletal muscle atrophy, Scapular winging, Kyphoscoliosis, Flexion contracture, Hypotonia, Facial... OMIM:609285
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Spastic Paraplegia 43, Autosomal Recessive
Ankle flexion contracture, Spastic paraplegia, Optic atrophy, Knee flexion contracture, Distal am... OMIM:615043
Spastic Paraplegia 42, Autosomal Dominant
Skeletal muscle atrophy, Spastic paraplegia, Spastic gait OMIM:612539
Spastic Paraplegia 57, Autosomal Recessive
Hand muscle atrophy, Lower limb spasticity, Spastic paraplegia, Optic atrophy, Lower limb amyotrophy OMIM:615658
Autosomal Recessive Spastic Paraplegia Type 63
Skeletal muscle atrophy, Spasticity, Hypertonia, Scissor gait ORPHA:401805
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of... OMIM:611890
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 5
Distal lower limb amyotrophy, Spinal muscular atrophy, Foot dorsiflexor weakness OMIM:614881
Intellectual Developmental Disorder, Autosomal Dominant 33
Hyperactivity OMIM:616311
Lethal Congenital Contracture Syndrome 4
Skeletal muscle atrophy, Multiple joint contractures, Flexion contracture, Distal arthrogryposis OMIM:614915
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Degeneration of anterior horn cells, Distal am... OMIM:253400
Spinal Muscular Atrophy, Infantile, James Type
Hip contracture, Lumbar hyperlordosis, Distal amyotrophy, Scoliosis, Type 1 muscle fiber predomin... OMIM:619042
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency
Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Hypotonia, Scoliosis,... OMIM:613204
Bethlem Myopathy 2
Scapular winging, Kyphosis, Flexion contracture, Hypotonia, Myopathy, Scoliosis, Generalized hypo... OMIM:616471
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Facial palsy, Flexion contracture, Hypotonia, Knee flexion contracture, ... OMIM:616313
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... OMIM:605809
Lethal Congenital Contracture Syndrome 8
Death in infancy, Flexion contracture, Vocal cord paralysis, Facial diplegia, Distal amyotrophy, ... OMIM:616287
Spinal Muscular Atrophy, Facioscapulohumeral Type
Skeletal muscle atrophy, Spinal muscular atrophy OMIM:182970
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 3
Distal lower limb muscle weakness, Paralysis OMIM:608634
Spastic Paraplegia 31, Autosomal Dominant
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Distal amyotrophy, Lower limb... OMIM:610250
Gne Myopathy
Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc... ORPHA:602
Intellectual Developmental Disorder, X-Linked 77
Hyperactivity OMIM:300454
Neuropathy, Hereditary Motor And Sensory, Type Vic, With Optic Atrophy
Optic disc pallor, Claw hand deformity, Lower limb muscle weakness, Optic atrophy, Upper limb mus... OMIM:618511
Mitochondrial Complex I Deficiency, Nuclear Type 23
Skeletal muscle atrophy, Dystonia, Hypotonia, Generalized hypotonia, Scoliosis OMIM:618244
Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2A2B
Optic disc pallor, Kyphosis, Optic atrophy, Upper limb amyotrophy, Scoliosis, Lower limb amyotrop... OMIM:617087
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Myosclerosis, Autosomal Recessive
Skeletal muscle atrophy, Lumbar hyperlordosis, Thoracolumbar scoliosis, Facial palsy, Spinal rigi... OMIM:255600
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset
Spinal rigidity, Hyperlordosis, Kyphosis, Short neck, Flexion contracture, Scoliosis, Increased v... OMIM:300718
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Tremor, Kyphosis, Distal upper limb amyotrophy, Scoliosis, ... ORPHA:101075
Autosomal Recessive Spastic Paraplegia Type 43
Ankle flexion contracture, Knee flexion contracture, Distal amyotrophy, Generalized hypotonia, Sp... ORPHA:320370
Hereditary Neuropathy With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Vocal cord paralysis, Scoliosis ORPHA:640
Charcot-Marie-Tooth Disease, Axonal, Type 2Q
Skeletal muscle atrophy, Distal lower limb muscle weakness OMIM:615025
Spinal Muscular Atrophy, Type Iv
Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ... OMIM:271150
Intellectual Developmental Disorder, X-Linked 109
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... OMIM:309548
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 2
Distal lower limb muscle weakness, Paralysis OMIM:158590
Muscular Dystrophy, Congenital, 1B
Facial palsy, Spinal rigidity, Achilles tendon contracture, Generalized muscle hypertrophy, Pecto... OMIM:604801
Scheuermann Disease
Kyphosis, Morbus Scheuermann OMIM:181440
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, H... OMIM:617760
Fraxe Intellectual Disability
Hyperactivity, Impulsivity, Aggressive behavior, Stereotypical body rocking, Agitation, Compulsiv... ORPHA:100973
Neuropathy, Congenital Hypomyelinating, 2
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Severe muscular hypotonia, Hy... OMIM:618184
Amyotrophic Lateral Sclerosis Type 4
Skeletal muscle atrophy, Spastic paraplegia ORPHA:357043
Intellectual Developmental Disorder With Epilepsy, Behavioral Abnormalities, And Coarse Facies
Self-injurious behavior, Hyperactivity, Aggressive behavior OMIM:619031
Encephalopathy, Progressive, With Amyotrophy And Optic Atrophy
Spinal muscular atrophy, Optic atrophy, Spastic tetraplegia, Distal amyotrophy, Generalized hypot... OMIM:617207
Idiopathic Camptocormia
Amyotrophic lateral sclerosis, Abnormal intervertebral disk morphology, Myositis, Fatigable weakn... ORPHA:1320
Inclusion Body Myositis
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red... ORPHA:611
Spastic Paraplegia 63, Autosomal Recessive
Hypertonia, Skeletal muscle atrophy, Spastic paraplegia, Scissor gait OMIM:615686
Spastic Paraplegia 73, Autosomal Dominant
Skeletal muscle atrophy, Spastic paraplegia OMIM:616282
Diaphragmatic Hernia 3
Congenital diaphragmatic hernia OMIM:610187
Diaphragmatic Hernia, Congenital
Congenital diaphragmatic hernia OMIM:142340
Nonaka Myopathy
Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu... OMIM:605820
Nemaline Myopathy 5C, Autosomal Dominant
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Quadriceps muscle weakness, Achilles te... OMIM:620389
Intellectual Developmental Disorder, X-Linked 82
Kyphosis, Scoliosis OMIM:300518
Bethlem Myopathy 1
Skeletal muscle atrophy, Torticollis, Congenital muscular torticollis, Camptodactyly of finger, A... OMIM:158810
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... OMIM:254210
Autosomal Recessive Spastic Paraplegia Type 76
Skeletal muscle atrophy, Lower limb spasticity, Lower limb muscle weakness, Scoliosis ORPHA:488594
Intellectual Developmental Disorder, X-Linked, Syndromic, Houge Type
Hyperactivity, Impulsivity, Attention deficit hyperactivity disorder OMIM:301008
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 7
Proximal muscle weakness in upper limbs, Scapular winging, Flexion contracture, Hypotonia, Proxim... OMIM:619216
Nemaline Myopathy 10
Skeletal muscle atrophy, Death in infancy, Severe muscular hypotonia, Facial palsy, Fatty replace... OMIM:616165
Charcot-Marie-Tooth Disease, Axonal, Type 2L
Distal amyotrophy, Scoliosis, Decreased amplitude of sensory action potentials OMIM:608673
Spinal Muscular Atrophy, Type Ii
Degeneration of anterior horn cells, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:253550
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 3
Spinal muscular atrophy, Hyperlordosis, Distal amyotrophy, Distal lower limb muscle weakness, Int... OMIM:607088
Dysequilibrium Syndrome
Skeletal muscle atrophy, Hypotonia ORPHA:1766
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Prolonged miniature endplate currents, Intrinsic hand muscle atrophy, Fatiga... OMIM:601462
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Myasthenic Syndrome, Congenital, 14
Scapular winging, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle w... OMIM:616228
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Scoliosis ORPHA:101078
Perching Syndrome
Joint contracture, Cyanosis, Scoliosis, Camptodactyly OMIM:617055
Muscular Atrophy, Malignant Neurogenic
Skeletal muscle atrophy OMIM:158650
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Myopathy, X-Linked, With Postural Muscle Atrophy
Back pain, Skeletal muscle atrophy, Scapular winging, Spinal rigidity, Short neck, Achilles tendo... OMIM:300696
Amyotonia Congenita
Skeletal muscle atrophy OMIM:205000
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Abnormal pyramidal sign, Limb ataxia, Gait ataxia, Progre... ORPHA:95434
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Scoliosis... OMIM:618238
Lethal Congenital Contracture Syndrome 7
Skeletal muscle atrophy, Paralysis, Knee flexion contracture, Facial diplegia, Distal arthrogryposis OMIM:616286
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia
Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I... OMIM:117000
Rigid Spine Syndrome
Hip contracture, Skeletal muscle atrophy, Hyperlordosis, Spinal rigidity, Elbow flexion contractu... ORPHA:97244
Charcot-Marie-Tooth Disease, Axonal, With Vocal Cord Paresis, Autosomal Recessive
Decreased motor nerve conduction velocity, Proximal muscle weakness in upper limbs, Neuropathic s... OMIM:607706
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Spasticity, Flexion contracture OMIM:611105
Myasthenic Syndrome, Congenital, 7A, Presynaptic, And Distal Motor Neuropathy, Autosomal Dominant
Compound muscle action potential amplitude facilitation, Decreased compound muscle action potenti... OMIM:616040
Myopathy, Distal, 5
Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower... OMIM:617030
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Hyperlordosis, Centrally nucleated skeleta... OMIM:160150
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Severe muscular hypotonia, Facial palsy, Spinal muscular atrophy, De... OMIM:301830
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant
Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle... OMIM:618655
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2
Distal lower limb amyotrophy, Postural tremor, Hand muscle weakness, Quadriceps muscle weakness, ... ORPHA:99947
Spastic Paraplegia 70, Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Scoliosis, Spasticity OMIM:620323
Spastic Paraplegia 2, X-Linked
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Optic at... OMIM:312920
Myopathy, Scapulohumeroperoneal
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Hyperlordosis, Cent... OMIM:616852
Parastremmatic Dwarfism
Kyphosis, Flexion contracture, Scoliosis, Short neck OMIM:168400
Amyotrophic Lateral Sclerosis 11
Decreased nerve conduction velocity, Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:612577
Muscular Atrophy, Ataxia, Retinitis Pigmentosa, And Diabetes Mellitus
Skeletal muscle atrophy OMIM:158500
Myopathy, Distal, 4
Distal lower limb amyotrophy, Skeletal muscle atrophy, Thenar muscle weakness, Abnormality of the... OMIM:614065
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:611895
Autosomal Spastic Paraplegia Type 30
Lower limb spasticity, Scissor gait, Distal amyotrophy, Leg muscle stiffness, Spastic gait, Progr... ORPHA:101010
Distal Hereditary Motor Neuropathy Type 5
Abnormal motor nerve conduction velocity, Thenar muscle atrophy, Thenar muscle weakness, Upper li... ORPHA:139536
X-Linked Charcot-Marie-Tooth Disease Type 3
Distal lower limb amyotrophy, Decreased motor nerve conduction velocity, Hand muscle weakness, In... ORPHA:101077
Hereditary Myopathy With Early Respiratory Failure
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H... ORPHA:178464
8p23.1 deletion syndrome
Congenital diaphragmatic hernia DECIPHER:39
Intellectual Disability-Expressive Aphasia-Facial Dysmorphism Syndrome
Hyperactivity ORPHA:436151
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Opisthotonus, Spastic dysarthria, Hypertonia, Spast... OMIM:205100
Congenital Muscular Dystrophy Without Intellectual Disability
Kyphoscoliosis, Reduced muscle fiber alpha dystroglycan, Fatty replacement of skeletal muscle, Ac... ORPHA:370980
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Amyotrophic Lateral Sclerosis 15 With Or Without Frontotemporal Dementia
Athetosis, Amyotrophic lateral sclerosis, Gliosis, Paralysis OMIM:300857
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 6
Decreased motor nerve conduction velocity, Lower limb muscle weakness, Spinal muscular atrophy, W... OMIM:615575
Developmental And Epileptic Encephalopathy 43
Hyperactivity, Ataxia, Impulsivity, Attention deficit hyperactivity disorder OMIM:617113
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Tremor, Kyphosis, Paraparesis, Optic atrophy, Skeletal muscle hypertrophy, Scoliosis, Abn... ORPHA:99014
Pcna-Related Progressive Neurodegenerative Photosensitivity Syndrome
Congenital diaphragmatic hernia, Gait ataxia ORPHA:438134
Muscular Dystrophy, Congenital, With Cataracts And Intellectual Disability
Lower limb spasticity, Spinal rigidity, Hyperlordosis, Kyphosis, Hypotonia, Proximal amyotrophy, ... OMIM:617404
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Scol... ORPHA:424107
Microphthalmia, Syndromic 12
Neonatal death, Congenital diaphragmatic hernia OMIM:615524
Welander Distal Myopathy
Distal amyotrophy, Rimmed vacuoles OMIM:604454
Neuropathy, Congenital Hypomyelinating, 1, Autosomal Recessive
Decreased motor nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Neonata... OMIM:605253
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)
Skeletal muscle atrophy, Lower-limb joint contracture, Paralysis OMIM:613710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Vertebral fusion, Skeletal muscle atrophy, Elbow contracture, Facial palsy, Hyperlordosis, Kyphos... OMIM:606612
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset
Hip contracture, Elbow contracture, Kyphoscoliosis, Spinal rigidity, Ankle contracture, Limb-gird... OMIM:620386
Tubular Aggregate Myopathy
Centrally nucleated skeletal muscle fibers, Fatiguable weakness of proximal limb muscles, Type 2 ... ORPHA:2593
Spastic Paraplegia 45, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Flexion contracture, Spastic paraplegia, Optic at... OMIM:613162
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Periodic paralysis, Hyperlordosis OMIM:614198
Charcot-Marie-Tooth Disease, Axonal, Type 2N
Distal lower limb amyotrophy, Skeletal muscle atrophy, Decreased motor nerve conduction velocity,... OMIM:613287
Spinal Muscular Atrophy, Ryukyuan Type
Spinal muscular atrophy, Kyphoscoliosis, Proximal amyotrophy OMIM:271200
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 2
Decreased motor nerve conduction velocity, Claw hand deformity, Spinal muscular atrophy, Decrease... OMIM:605726
Glut1 Deficiency Syndrome 1
Ataxia, Paralysis, Babinski sign, Choreoathetosis, Hemiparesis, Myoclonus, Spasticity OMIM:606777
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Hypotonia, Fatigable weakness, Gene... OMIM:608931
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Skeletal muscle atrophy, Amyotrophic lateral sclerosis OMIM:205250
Developmental And Epileptic Encephalopathy 104
Self-injurious behavior, Hyperactivity, Agitation OMIM:619970
Spinal Muscular Atrophy, Jokela Type
Calf muscle hypertrophy, Skeletal muscle atrophy, Spinal muscular atrophy OMIM:615048
Intellectual Developmental Disorder, X-Linked, Syndromic, Pilorge Type
Hyperactivity, Inflexible adherence to routines OMIM:301076
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Distal amyotrophy, Spinal muscular atrophy, Proximal amyotrophy OMIM:182980
Spinal Muscular Atrophy, Type I
Spinal muscular atrophy, Proximal amyotrophy, Proximal muscle weakness in lower limbs, Generalize... OMIM:253300
Neuropathy, Hereditary, With Liability To Pressure Palsies
Decreased motor nerve conduction velocity, Froment sign, Vocal cord paralysis, Hand muscle weakness OMIM:162500
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Facial palsy, Spinal muscular atrop... OMIM:159950
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 1
Back pain, Scapular winging, Lumbar hyperlordosis, Pelvic girdle muscle atrophy, Facial palsy, Pe... OMIM:167320
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2A, Childhood Onset, Autosomal Dominant
Hip contracture, Scapular winging, Lower limb spasticity, Spinal muscular atrophy, Hyperlordosis,... OMIM:615290
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Postural tremor, Kyphoscolios... ORPHA:3115
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Amyotrophic Lateral Sclerosis, Susceptibility To, 24
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:617892
Amyotrophic Lateral Sclerosis 18
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:614808
Charcot-Marie-Tooth Disease Type 4A
Neuropathic spinal arthropathy, Frequent falls, Hand muscle weakness, Decreased nerve conduction ... ORPHA:99948
Muscular Dystrophy, Congenital, Lmna-Related
Hip contracture, Elbow contracture, Spinal rigidity, Scapuloperoneal amyotrophy, Achilles tendon ... OMIM:613205
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive
Death in infancy, Nemaline bodies, Hypotonia, Increased variability in muscle fiber diameter, Gen... OMIM:620265
Hartnup Disorder
Episodic ataxia, Hyperactivity, Attention deficit hyperactivity disorder OMIM:234500
Congenital Unilateral Hypoplasia Of Depressor Anguli Oris
Vertebral segmentation defect, Hypertonia, Congenital diaphragmatic hernia ORPHA:1166
Neurodevelopmental Disorder With Hypotonia, Neuropathy, And Deafness
Absent brainstem auditory responses, Severe muscular hypotonia, Facial palsy, Ankle flexion contr... OMIM:617519
Mitochondrial Complex I Deficiency, Nuclear Type 15
Kyphosis, Flexion contracture, Optic atrophy, Spastic tetraplegia, Myopathy, Generalized hypotoni... OMIM:618237
Classic Glucose Transporter Type 1 Deficiency Syndrome
Ataxia, Paralysis, Chorea, Choreoathetosis, Hemiparesis, Hypertonia, Myoclonus, Extrapyramidal dy... ORPHA:71277
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Distal amyotrophy, Generalized hypotonia, Kyphoscoliosis OMIM:619099
Nemaline Myopathy 6
Skeletal muscle atrophy, Limb muscle weakness, Nemaline bodies, Myopathy OMIM:609273
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Hand muscle atrophy, Decreased motor nerve conduction velocity, Decreased distal sensory nerve ac... OMIM:607684
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Distal amyotrophy, Spasticity OMIM:602099
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis, Distal amyotrophy OMIM:205200
Microcephaly, Seizures, And Developmental Delay
Hyperactivity, Ataxia OMIM:613402
Myopathy, X-Linked, With Excessive Autophagy
Skeletal muscle atrophy, Flexion contracture, Proximal muscle weakness in lower limbs, Myopathy, ... OMIM:310440
Nemaline Myopathy 2
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Flexion contracture, Congenital co... OMIM:256030
Cardiomyopathy-Hypotonia-Lactic Acidosis Syndrome
Myopathy, Cyanosis, Hypotonia ORPHA:91130
Charcot-Marie-Tooth Disease, X-Linked Recessive, 2
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:302801
Congenital Muscular Dystrophy, Ullrich Type
Torticollis, Spinal rigidity, Short neck, Kyphosis, Abnormal muscle fiber morphology, Flexion con... ORPHA:75840
Hyperprolinemia, Type I
Hyperactivity, Abnormal repetitive mannerisms, Ataxia, Aggressive behavior OMIM:239500
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Flexion contracture, Optic atrophy, Spasticity, Distal... OMIM:609260
Arthrogryposis Multiplex Congenita 2, Neurogenic Type
Skeletal muscle atrophy, Congenital contracture, Arthrogryposis multiplex congenita, Myopathy OMIM:208100
Hereditary Motor And Sensory Neuropathy V
Decreased motor nerve conduction velocity, Spasticity, Distal amyotrophy, Hypertonia, Limb muscle... OMIM:600361
Charcot-Marie-Tooth Disease, Demyelinating, Type 1D
Upper limb muscle weakness, Decreased motor nerve conduction velocity, Distal amyotrophy, Foot do... OMIM:607678
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12
Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra... ORPHA:206549
Spastic Paraplegia 64, Autosomal Recessive
Skeletal muscle atrophy, Spasticity, Spastic paraplegia OMIM:615683
Charcot-Marie-Tooth Disease, Dominant Intermediate C
Decreased motor nerve conduction velocity, Hand muscle weakness, Upper limb muscle weakness, Dist... OMIM:608323
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4
Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske... OMIM:618129
Fetal Akinesia Deformation Sequence 4
Skeletal muscle atrophy, Short neck, Kyphosis, Prenatal death, Camptodactyly, Neonatal death, Art... OMIM:618393
Horner Syndrome, Congenital
Congenital Horner syndrome, Paralysis OMIM:143000
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Intellectual Developmental Disorder, X-Linked 111
Hyperactivity, Aggressive behavior, Unsteady gait, Phonic tics, Compulsive behaviors OMIM:301107
Fetal Encasement Syndrome
Omphalocele, Congenital diaphragmatic hernia OMIM:613630
Laryngeal Adductor Paralysis
Paralysis OMIM:150270
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Amyotrophic Lateral Sclerosis 1
Degeneration of anterior horn cells, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spas... OMIM:105400
Amyotrophic Lateral Sclerosis 16, Juvenile
Lower limb spasticity, Amyotrophic lateral sclerosis, Lower limb muscle weakness, Weakness of the... OMIM:614373
Arthrogryposis Multiplex Congenita 3, Myogenic Type
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion contracture, Increa... OMIM:618484
Pomt1-Related Limb-Girdle Muscular Dystrophy R11
Neonatal hypotonia, Lumbar hyperlordosis, Spinal rigidity, Centrally nucleated skeletal muscle fi... ORPHA:86812
Legg-Calvé-Perthes Disease
Skeletal muscle atrophy ORPHA:2380
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, Decreased circulating gona... OMIM:215470
Cutis Laxa-Marfanoid Syndrome
Flexion contracture, Congenital diaphragmatic hernia ORPHA:171719
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Omphalocele, Congenital diaphragmatic hernia ORPHA:2141
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Proximal amyotrophy OMIM:610542
Distal 7Q11.23 Microduplication Syndrome
Congenital diaphragmatic hernia ORPHA:261102
Triose Phosphate-Isomerase Deficiency
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia ORPHA:868
Pontocerebellar Hypoplasia, Type 1C
Skeletal muscle atrophy, Spinal muscular atrophy, Spastic tetraparesis, Death in childhood, Joint... OMIM:616081
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
Facial Onset Sensory And Motor Neuronopathy
Skeletal muscle atrophy ORPHA:85162
Ataxia-Deafness-Intellectual Disability Syndrome
Decreased nerve conduction velocity, Skeletal muscle atrophy, Hypotonia, Scoliosis ORPHA:1188
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle, Cranial nerve... ORPHA:52430
Congenital Muscular Dystrophy Due To Lmna Mutation
Skeletal muscle atrophy, Death in infancy, Spinal rigidity, Hyperlordosis, Flexion contracture, H... ORPHA:157973
Myopathy, Sarcoplasmic Body
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus... OMIM:620286
Vocal Cord Paralysis And Ptosis
Vocal cord paralysis OMIM:193240
Typical Nemaline Myopathy
Neonatal hypotonia, Facial palsy, Hyperlordosis, Spinal rigidity, Kyphosis, Short neck, Fatigable... ORPHA:171436
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Atrophy o... ORPHA:35689
Spastic Paraplegia 46, Autosomal Recessive
Lower limb spasticity, Kyphosis, Babinski sign, Spastic gait, Spastic paraplegia, Hand tremor, An... OMIM:614409
Horizontal Gaze Palsy With Progressive Scoliosis
Kyphosis, Scoliosis, Short neck ORPHA:2744
Bullous Dystrophy, Hereditary Macular Type
Acrocyanosis, Death in childhood OMIM:302000
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8
Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk... OMIM:254110
Amyotrophic Lateral Sclerosis
Amyotrophic lateral sclerosis, Paralysis, Motor neuron atrophy, Fatigable weakness of bulbar musc... ORPHA:803
Fried Syndrome
Skeletal muscle atrophy, Hypotonia, Scoliosis, Spastic diplegia ORPHA:85335
Charcot-Marie-Tooth Disease, Type 4B1
Decreased motor nerve conduction velocity, Facial palsy, Abnormal auditory evoked potentials, Dis... OMIM:601382
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome
Proximal muscle weakness in upper limbs, Lower limb spasticity, Kyphoscoliosis, Upper limb amyotr... ORPHA:496689
Autosomal Recessive Spondylocostal Dysostosis
Inguinal hernia, Abnormal intervertebral disk morphology, Camptodactyly of finger, Congenital dia... ORPHA:2311
Charcot-Marie-Tooth Disease, Recessive Intermediate C
Decreased motor nerve conduction velocity, Distal amyotrophy, Scoliosis OMIM:615376
Mitochondrial Myopathy And Sideroblastic Anemia
Kyphosis, Hypotonia, Generalized limb muscle atrophy, Myopathy, Scoliosis ORPHA:2598
Autosomal Dominant Congenital Benign Spinal Muscular Atrophy
Nonprogressive muscular atrophy, Distal amyotrophy, Hypotonia ORPHA:1216
Linear Skin Defects With Multiple Congenital Anomalies 2
Optic disc pallor, Congenital diaphragmatic hernia OMIM:300887
Chiari Malformation Type Ii
Cyanosis, Spina bifida, Hypotonia, Opisthotonus, Cervical myelopathy, Syringomyelia, Generalized ... OMIM:207950
Cutis Laxa, Neonatal, With Marfanoid Phenotype
Congenital diaphragmatic hernia OMIM:614100
Proximal 16P11.2 Microduplication Syndrome
Tremor, Congenital diaphragmatic hernia, Hemivertebrae, Scoliosis ORPHA:370079
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy
Skeletal muscle atrophy, Hypotonia, Type 1 muscle fiber predominance, Dystonia, Spasticity OMIM:618276
Severe X-Linked Mitochondrial Encephalomyopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Increased variability in muscle fiber diamete... ORPHA:238329
Xp22.13P22.2 Duplication Syndrome
Congenital diaphragmatic hernia, Short neck, Slowed slurred speech, Scoliosis, Umbilical hernia ORPHA:284180
Pomt2-Related Limb-Girdle Muscular Dystrophy R14
Scapular winging, Reduced muscle fiber alpha dystroglycan, Fatigable weakness of skeletal muscles... ORPHA:206559
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23
Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Decreased n... OMIM:618138
Charcot-Marie-Tooth Disease Type 1A
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Kyphoscoliosis, Calf muscle h... ORPHA:101081
Diaphragmatic Defects, Limb Deficiencies, And Ossification Defects Of Skull
Omphalocele, Abnormality of the diaphragm, Congenital diaphragmatic hernia OMIM:601163
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis, Proximal amyotrophy OMIM:608030
Charcot-Marie-Tooth Disease, Axonal, Type 2B2
Decreased motor nerve conduction velocity, Distal amyotrophy OMIM:605589
Acute Peripheral Arterial Occlusion
Limb muscle weakness, Paralysis ORPHA:90064
Neuronal Intestinal Pseudoobstruction
Congenital diaphragmatic hernia ORPHA:99811
Diffuse Palmoplantar Keratoderma-Acrocyanosis Syndrome
Acrocyanosis ORPHA:86918
Combined Oxidative Phosphorylation Deficiency 6
Skeletal muscle atrophy, Ragged-red muscle fibers, Hypotonia OMIM:300816
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Su... ORPHA:276244
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Limb ataxia, Abnormality of extrapyramidal motor... OMIM:610743
Greig Cephalopolysyndactyly Syndrome
Umbilical hernia, Congenital diaphragmatic hernia ORPHA:380
Acromesomelic Dysplasia, Maroteaux Type
Ovoid vertebral bodies, Hyperlordosis, Kyphosis, Abnormal form of the vertebral bodies, Vertebral... ORPHA:40
Myopathic Ehlers-Danlos Syndrome
Congenital muscular torticollis, Decreased muscle mass, Multiple joint contractures, Flexion cont... ORPHA:536516
Synaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Scapular winging, Facial palsy, Hand muscle weakness, Hypotonia, Prolong... ORPHA:98915
Congenital Diaphragmatic Hernia
Aplasia/Hypoplasia of the diaphragm, Congenital diaphragmatic hernia ORPHA:2140
Autosomal Dominant Spastic Paraplegia Type 17
Hand muscle atrophy, Abnormal motor nerve conduction velocity, Hand muscle weakness, Abnormality ... ORPHA:100998
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 4
Calf muscle pseudohypertrophy, Scapular winging, Pelvic girdle muscle atrophy, Limb-girdle muscle... OMIM:604286
Spastic Paraplegia, Optic Atrophy, And Neuropathy
Optic disc pallor, Exaggerated startle response, Kyphosis, Flexion contracture, Optic atrophy, Ba... OMIM:609541
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari... OMIM:255320
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Limb muscle weakness, Scoliosis, Fatigable weakness of respiratory muscl... ORPHA:329336
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Spasticity OMIM:612069
Gemignani Syndrome
Skeletal muscle atrophy ORPHA:2074
Kyphoscoliotic Ehlers-Danlos Syndrome Due To Fkbp22 Deficiency
Skeletal muscle atrophy, Severe muscular hypotonia, Kyphoscoliosis, Myopathy, Bruising susceptibi... ORPHA:300179
Hyperlysinemia, Type I
Hyperactivity OMIM:238700
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Myopathy, Centronuclear, 2
Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal muscle fibers, Kyphos... OMIM:255200
Intellectual Developmental Disorder, Autosomal Dominant 67
Motor tics, Hyperactivity, Compulsive behaviors, Attention deficit hyperactivity disorder OMIM:619927
Glycine Encephalopathy 1
Restlessness, Hyperactivity, Impulsivity, Aggressive behavior OMIM:605899
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Centrally nucleated skelet... OMIM:606070
Charcot-Marie-Tooth Disease, Axonal, Type 2B1
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb muscle weakness, Distal amy... OMIM:605588
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Hyperlordosis, Flexion contracture, Muscl... OMIM:253700
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Ataxia, Acute rhabdomyolysis, Camptodactyly of finger, Kyphosis, Abnormal pyramidal sign, Dysmetr... ORPHA:48431
Van Den Bosch Syndrome
Anhidrotic ectodermal dysplasia, Scapular winging, Unfavorable response of muscle weakness to ace... ORPHA:3417
Venular Insufficiency, Systemic
Cyanosis OMIM:192700
Sulfhemoglobinemia, Congenital
Cyanosis OMIM:185460
Porphyria, Acute Hepatic
Respiratory paralysis, Paralysis OMIM:612740
Myopathy And Diabetes Mellitus
Distal lower limb amyotrophy, Achilles tendon contracture, Proximal amyotrophy, Skeletal myopathy... ORPHA:2596
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Tremor, Flexion contracture, Clumsiness, Eyelid myoclonus... ORPHA:2590
Scapuloperoneal Spinal Muscular Atrophy
Scapular winging, Progressive distal muscular atrophy, Torticollis, Facial palsy, Peroneal muscle... OMIM:181405
Spinocerebellar Ataxia Type 26
Paralysis, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Fa... ORPHA:101112
Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia
Decreased motor nerve conduction velocity, Abnormal spinal cord morphology, Spastic paraplegia, D... ORPHA:139578
Acrocallosal Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:36
Distal Nebulin Myopathy
Ankle flexion contracture, Fatty replacement of skeletal muscle, Weakness of the intrinsic hand m... ORPHA:399103
Spastic Paraplegia 17, Autosomal Dominant
Decreased motor nerve conduction velocity, Lower limb spasticity, Thenar muscle atrophy, Thenar m... OMIM:270685
Mitochondrial Complex I Deficiency, Nuclear Type 17
Skeletal muscle atrophy, Generalized dystonia, Rigidity, Hypotonia, Scoliosis, Dystonia OMIM:618239
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Charcot-Marie-Tooth Disease, Recessive Intermediate A
Angulated muscle fibers, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Type 1 muscle ... OMIM:608340
Cap Myopathy
Thoracic scoliosis, Lumbar hyperlordosis, Facial palsy, Abnormal muscle fiber morphology, Fatigua... ORPHA:171881
Mannosidosis, Beta A, Lysosomal
Hyperactivity, Aggressive behavior OMIM:248510
Methemoglobinemia, Beta Type
Cyanosis OMIM:617971
Methemoglobinemia, Alpha Type
Cyanosis OMIM:617973
Kearns-Sayre Syndrome
Progressive intervertebral space narrowing, Skeletal muscle atrophy, Ragged-red muscle fibers, Hy... ORPHA:480
Pure Mitochondrial Myopathy
Scapular winging, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Quadriceps muscle w... ORPHA:254854
Autosomal Dominant Spastic Paraplegia Type 41
Lower limb spasticity, Hand muscle weakness, Spinal cord lesion, Lower limb amyotrophy, Spastic g... ORPHA:320355
Scapuloperoneal Myopathy, X-Linked Dominant
Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Scapuloperoneal myopathy,... OMIM:300695
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 17
Skeletal muscle atrophy, Lumbar hyperlordosis, Flexion contracture, Muscular dystrophy OMIM:613723
Myopathy, Myofibrillar, 7
Skeletal muscle atrophy, Lumbar hyperlordosis, Multiple joint contractures, Increased Z-disc widt... OMIM:617114
Schisis Association
Omphalocele, Congenital diaphragmatic hernia, Spina bifida ORPHA:63862
Brown-Vialetto-Van Laere Syndrome 2
Facial palsy, Kyphoscoliosis, Optic atrophy, Hypotonia, Generalized amyotrophy, Scoliosis, Genera... OMIM:614707
Hypokalemic Periodic Paralysis
Paralysis, Abnormal muscle fiber morphology, Respiratory paralysis, Increased intramyocellular li... ORPHA:681
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Hyperactivity, Abnormal repetitive mannerisms, Broad-based gait, Aggressive behavior OMIM:619470
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Weakness of facial musculature, Distal amyotrophy, Proximal amyotrophy OMIM:254300
Facioscapulohumeral Muscular Dystrophy 1
Skeletal muscle atrophy, Scapular winging, Facial palsy, Retinal telangiectasia, Calf muscle hype... OMIM:158900
Congenital Myopathy 3 With Rigid Spine
Facial palsy, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Flexion contracture, I... OMIM:602771
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Skeletal muscle atrophy, Acrocyanosis ORPHA:2400
Charcot-Marie-Tooth Disease, Demyelinating, Type 4F
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Vocal cord paresis, Intrinsic... OMIM:614895
Autosomal Dominant Spastic Paraplegia Type 42
Lower limb spasticity, Lower limb muscle weakness, Spinal cord lesion, Lower limb hypertonia, Low... ORPHA:171863
Mitochondrial Dna Depletion Syndrome 2 (Myopathic Type)
Ragged-red muscle fibers, Limb muscle weakness, Hypotonia, Facial diplegia, Generalized amyotroph... OMIM:609560
Brachyolmia Type 1, Hobaek Type
Back pain, Short neck, Kyphosis, Squared-off platyspondyly, Scoliosis, Intervertebral space narro... OMIM:271530
Halperin-Birk Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Flexion contracture, Optic atrophy, Spastic tet... OMIM:618651
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia ORPHA:3454
Gm1-Gangliosidosis, Type Iii
Skeletal muscle atrophy, Dystonia, Kyphosis, Platyspondyly, Scoliosis, Anterior beaking of lumbar... OMIM:230650
Machado-Joseph Disease Type 1
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Substantia nigra glios... ORPHA:276238
Machado-Joseph Disease Type 2
Distal lower limb amyotrophy, Skeletal muscle atrophy, Neurogenic bladder, Substantia nigra glios... ORPHA:276241
Intellectual Developmental Disorder With Muscle Tone Abnormalities And Distal Skeletal Defects
Kyphosis, Appendicular hypotonia, Axial hypotonia, Facial myokymia OMIM:620007
Craniofrontonasal Dysplasia
Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis ORPHA:1520
Phosphoserine Aminotransferase Deficiency
Death in infancy, Hypertonia, Cyanotic episode OMIM:610992
Leber Optic Atrophy And Dystonia
Skeletal muscle atrophy, Optic atrophy, Scoliosis, Dystonia, Spasticity OMIM:500001
Autosomal Recessive Emery-Dreifuss Muscular Dystrophy
Back pain, Proximal muscle weakness in upper limbs, Scapular winging, Spinal rigidity, Hyperlordo... ORPHA:98855
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculature OMIM:617069
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Hyperactivity, Inability to walk, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Oculogyric crisis, Optic atrophy, Scoliosis, Dystonia ORPHA:330050
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Hypotonia, Fatigable weakness, Scoliosis, Arthro... OMIM:617143
Coffin-Siris Syndrome 3
Inguinal hernia, Central diaphragmatic hernia, Macroglossia, Scoliosis, Umbilical hernia OMIM:614608
Tonne-Kalscheuer Syndrome
Tremor, Spasticity, Congenital diaphragmatic hernia OMIM:300978
Spastic Paraplegia 76, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Spastic paraplegia, Scoliosis, Lower limb muscle ... OMIM:616907
Spastic Paraplegia 5A, Autosomal Recessive
Lower limb spasticity, Lower limb muscle weakness, Spastic paraplegia, Optic atrophy, Upper limb ... OMIM:270800
Neuralgic Amyotrophy
Scapular winging, Acrocyanosis ORPHA:2901
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3
Decreased nerve conduction velocity, Upper limb muscle weakness, Distal amyotrophy, Scoliosis, Fo... OMIM:302802
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis, Rimmed vacuoles, Muscle fiber inclusion bodies, Muscular dystrophy OMIM:615426
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10
Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari... OMIM:608807
Intellectual Developmental Disorder, X-Linked 101
Hyperactivity OMIM:300928
Cooper-Jabs Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Camptodactyly of finger, Scoliosis ORPHA:1488
Autosomal Recessive Charcot-Marie-Tooth Disease With Hoarseness
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Peroneal muscle weakness, Frequ... ORPHA:101097
Mitochondrial Complex I Deficiency, Nuclear Type 31
Skeletal muscle atrophy, Hypotonia, Death in childhood OMIM:618251
Spinocerebellar Ataxia With Rigidity And Peripheral Neuropathy
Rigidity, Skeletal muscle atrophy, Spasticity, Decreased nerve conduction velocity OMIM:183050
Hypokalemic Periodic Paralysis, Type 2
Myopathy, Periodic paralysis OMIM:613345
Charcot-Marie-Tooth Disease Type 2B1
Hand muscle atrophy, Toe extensor amyotrophy, Decreased motor nerve conduction velocity, Pelvic g... ORPHA:98856
Lung Agenesis-Heart Defect-Thumb Anomalies Syndrome
Death in infancy, Vertebral segmentation defect, Congenital diaphragmatic hernia, Spina bifida ORPHA:1120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, EMG:... OMIM:253601
Proximal 16P11.2 Microdeletion Syndrome
Speech apraxia, Congenital diaphragmatic hernia, Choreoathetosis, Syringomyelia, Scoliosis, Abnor... ORPHA:261197
Congenital Myopathy 7A, Myosin Storage, Autosomal Dominant
Calf muscle pseudohypertrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Scap... OMIM:608358
Intellectual Developmental Disorder With Short Stature And Variable Skeletal Anomalies
Kyphosis, Camptodactyly OMIM:618453
Amyotrophic Lateral Sclerosis 8
Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Distal amyotrophy, Proximal amyotrophy OMIM:608627
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Hypotonia ORPHA:1875
Spastic Paraplegia And Psychomotor Retardation With Or Without Seizures
Lower limb spasticity, Lumbar hyperlordosis, Dystonia, Kyphosis, Hypotonia, Generalized hypotonia... OMIM:616756
Congenital Myasthenic Syndrome
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Neuropathic spinal arthropathy, Cyanosis, Kyphoscoliosis, Spinal rigidity, Limb-girdle muscle wea... ORPHA:98914
Multicentric Carpotarsal Osteolysis Syndrome
Congenital diaphragmatic hernia OMIM:166300
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 6
Skeletal muscle atrophy, Craniofacial dystonia, Hypotonia, Plantar flexion contracture, Arthrogry... OMIM:620011
Butyrylcholinesterase Deficiency
Paralysis ORPHA:132
Ullrich Congenital Muscular Dystrophy 2
Facial palsy, Kyphoscoliosis, Flexion contracture, Neonatal hypotonia, Increased variability in m... OMIM:616470
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
15Q24 Microdeletion Syndrome
Kyphosis, Hernia, Congenital diaphragmatic hernia, Scoliosis ORPHA:94065
Donnai-Barrow Syndrome
Omphalocele, Umbilical hernia, Congenital diaphragmatic hernia ORPHA:2143
Intermediate Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip... ORPHA:171433
Charcot-Marie-Tooth Disease-Deafness-Intellectual Disability Syndrome
Distal lower limb amyotrophy, Decreased nerve conduction velocity, Intrinsic hand muscle atrophy,... ORPHA:90103
Charcot-Marie-Tooth Disease Type 1B
Skeletal muscle hypertrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity, Scoliosis ORPHA:101082
Amyotrophic Lateral Sclerosis 27, Juvenile
Lower limb spasticity, Scapular winging, Quadriceps muscle atrophy, Hyperlordosis, Angulated musc... OMIM:620285
Congenital Myopathy 19
Skeletal muscle atrophy, Axial hypotonia, Facial hypotonia, Congenital contracture, Generalized h... OMIM:618578
Extensor Tendons Of Finger Anomalies
Skeletal muscle atrophy, Camptodactyly of finger ORPHA:3294
Isolated Anencephaly
Omphalocele, Congenital diaphragmatic hernia ORPHA:563609
Combined Oxidative Phosphorylation Deficiency 13
Skeletal muscle atrophy, Axial hypotonia, Severe muscular hypotonia, Decreased nerve conduction v... OMIM:614932
Gillessen-Kaesbach-Nishimura Syndrome
Omphalocele, Flexion contracture, Congenital diaphragmatic hernia, Short neck OMIM:263210
Masa Syndrome
Lower limb spasticity, Hyperlordosis, Kyphosis, Spastic paraplegia, Paraplegia OMIM:303350
Guanidinoacetate Methyltransferase Deficiency
Hyperactivity, Ataxia, Aggressive behavior, Self-injurious behavior, Athetosis ORPHA:382
13Q12.3 Microdeletion Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Camptodactyly ORPHA:412035
Pontocerebellar Hypoplasia Type 1
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Degeneration of anterior horn cells, Arthrogry... ORPHA:2254
Zaki Syndrome
Sacral dimple, Congenital diaphragmatic hernia, Hypertonia, Scoliosis, Spastic gait OMIM:619648
Neuromyotonia And Axonal Neuropathy, Autosomal Recessive
Skeletal muscle atrophy, Neuromyotonia, Foot dorsiflexor weakness OMIM:137200
Charcot-Marie-Tooth Disease, Type 4B3
Skeletal muscle atrophy, Decreased nerve conduction velocity, Upper limb muscle weakness, Scolios... OMIM:615284
Charcot-Marie-Tooth Disease, Axonal, Type 2Z
Decreased motor nerve conduction velocity, Hypotonia, Intrinsic hand muscle atrophy, Distal amyot... OMIM:616688
Ullrich Congenital Muscular Dystrophy 1
Torticollis, Reduced muscle collagen VI, Facial palsy, Spinal rigidity, Kyphosis, Flexion contrac... OMIM:254090
Miyoshi Muscular Dystrophy 1
Distal amyotrophy, Lower limb muscle weakness, Muscular dystrophy, Deposits immunoreactive to bet... OMIM:254130
Oxoglutarate Dehydrogenase Deficiency
Dystonia, Rigidity, Hypotonia, Generalized amyotrophy, Death in childhood OMIM:203740
Mitochondrial Myopathy-Lactic Acidosis-Deafness Syndrome
Skeletal muscle atrophy, Myopathy ORPHA:2597
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Distal lower limb amyotrophy, Pro... ORPHA:101085
Jansen-De Vries Syndrome
Central diaphragmatic hernia, Hyperlordosis OMIM:617450
Myofibrillar Myopathy 11
Centrally nucleated skeletal muscle fibers, Z-band streaming, Calf muscle hypertrophy, Muscle fib... OMIM:619178
Autosomal Recessive Spastic Paraplegia Type 26
Skeletal muscle atrophy, Lower limb spasticity, Scoliosis, Dystonia, Decreased serum testosterone... ORPHA:101006
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... ORPHA:397744
Congenital Myopathy 10B, Mild Variant
Axial hypotonia, Elbow contracture, Hyperlordosis, Fatty replacement of skeletal muscle, Achilles... OMIM:620249
Fibrosis Of Extraocular Muscles, Congenital, 3C
Kyphosis, Congenital fibrosis of extraocular muscles OMIM:609384
Emanuel Syndrome
Sacral dimple, Inguinal hernia, Torticollis, Congenital diaphragmatic hernia, Kyphosis, Scoliosis... OMIM:609029
Spinocerebellar Ataxia Type 3
Skeletal muscle atrophy, Vocal cord paralysis, Abnormal pyramidal sign, Clumsiness, Progressive c... ORPHA:98757
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Type 1 muscle fiber predomina... ORPHA:98902
Cebalid Syndrome
Congenital diaphragmatic hernia OMIM:618774
Polyglucosan Body Neuropathy, Adult Form
Neurogenic bladder, Orthostatic hypotension, Spastic paraplegia, Tetraparesis, Abnormal upper mot... OMIM:263570
Glycogen Storage Disease Ixd
Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Quadriceps muscle weakn... OMIM:300559
Axial Mesodermal Dysplasia Spectrum
Omphalocele, Congenital diaphragmatic hernia, Short neck, Abnormal form of the vertebral bodies, ... ORPHA:1834
Phosphoserine Aminotransferase Deficiency, Infantile/Juvenile Form
Limb joint contracture, Ankle flexion contracture, Short neck, Spastic tetraparesis, Knee flexion... ORPHA:284417
Charcot-Marie-Tooth Disease, Type 4K
Skeletal muscle atrophy, Kyphoscoliosis, Dystonia OMIM:616684
Juvenile Amyotrophic Lateral Sclerosis
Axial dystonia, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, Lower limb spasticity, Dy... ORPHA:300605
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Myopathy, Tubular Aggregate, 1
Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Type 1 muscle fi... OMIM:160565
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ataxia, Facial palsy, Kyphosis, Vocal cord paralysi... OMIM:211530
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies
Skeletal muscle atrophy, Spastic tetraparesis, Optic atrophy, Hypotonia, Scoliosis, Joint contrac... OMIM:617481
Infantile-Onset Axonal Motor And Sensory Neuropathy-Optic Atrophy-Neurodegenerative Syndrome
Skeletal muscle atrophy, Foot joint contracture, Decreased nerve conduction velocity, Optic atrop... ORPHA:457205
Lennox-Gastaut Syndrome
Hyperactivity, Falls, Aggressive behavior ORPHA:2382
Congenital Myopathy 20
Skeletal muscle atrophy, Scapular winging, Elbow contracture, Centrally nucleated skeletal muscle... OMIM:620310
Spondylocostal Dysostosis 3, Autosomal Recessive
Contracture of the proximal interphalangeal joint of the 2nd finger, Kyphosis, Hypoplasia of the ... OMIM:609813
Congenital Myopathy 15
Fatty replacement of skeletal muscle, Vocal cord paralysis, Increased variability in muscle fiber... OMIM:620161
Variegate Porphyria
Paralysis OMIM:176200
Spastic Paraplegia 53, Autosomal Recessive
Clonus, Kyphosis, Spastic paraplegia, Lower limb hypertonia, Upper limb hypertonia OMIM:614898
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Choreoathetosis, Hyperactivity, Ataxia, Aggressive behavior OMIM:612716
Morm Syndrome
Hyperactivity, Aggressive behavior ORPHA:75858
Ehlers-Danlos Syndrome, Arthrochalasia Type, 1
Contracture of the proximal interphalangeal joint of the 2nd finger, Poor wound healing, Kyphosis... OMIM:130060
Intellectual Developmental Disorder, Autosomal Recessive 75, With Neuropsychiatric Features And Variant Lissencephaly
Nail-biting, Hyperactivity, Aggressive behavior, Self-biting, Self-injurious behavior, Inappropri... OMIM:619827
Nathalie Syndrome
Skeletal muscle atrophy OMIM:255990
Spinal Muscular Atrophy With Congenital Bone Fractures 2
Skeletal muscle atrophy, Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture,... OMIM:616867
Ispd-Related Limb-Girdle Muscular Dystrophy R20
Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Scapular winging, Hypoglycosylation of al... ORPHA:352479
Myopathy, Myofibrillar, 6
Thoracic scoliosis, Scapular winging, Facial palsy, Spinal rigidity, Knee flexion contracture, Ge... OMIM:612954
Antenatal Multiminicore Disease With Arthrogryposis Multiplex Congenita
Short neck, Kyphosis, Flexion contracture, Scoliosis, Arthrogryposis multiplex congenita, Increas... ORPHA:178148
Spinocerebellar Ataxia With Axonal Neuropathy Type 1
Spastic dysarthria, Distal amyotrophy, Distal lower limb muscle weakness, Spinocerebellar tract d... ORPHA:94124
Intellectual Disability, Birk-Barel Type
Sacral dimple, Foot joint contracture, Spinal muscular atrophy, Fatigable weakness of skeletal mu... ORPHA:166108
Schindler Disease, Type I
Optic atrophy, Hypotonia, Generalized amyotrophy, Generalized hypotonia, Spasticity OMIM:609241
Neurodevelopmental Disorder With Behavioral Abnormalities, Absent Speech, And Hypotonia
Hyperactivity, Inability to walk, Self-injurious behavior, Bruxism, Abnormal repetitive mannerism... OMIM:618718
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers OMIM:617070
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Intellectual Developmental Disorder, Autosomal Recessive 38
Hyperactivity, Aggressive behavior, Unsteady gait, Recurrent hand flapping, Self-mutilation OMIM:615516
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Tremor, Intrinsic hand muscle atrophy... OMIM:619574
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist... OMIM:619473
Congenital Myopathy 7B, Myosin Storage, Autosomal Recessive
Death in early adulthood, Thoracic scoliosis, Muscle fiber hyaline bodies, Centrally nucleated sk... OMIM:255160
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Scoliosis, Limb hyp... OMIM:619527
Lodder-Merla Syndrome, Type 2, With Developmental Delay And With Or Without Cardiac Arrhythmia
Hyperactivity, Attention deficit hyperactivity disorder OMIM:617182
Familial Cervical Artery Dissection
Abnormality of connective tissue, Facial palsy, Paralysis ORPHA:36382
Early-Onset Progressive Encephalopathy-Spastic Ataxia-Distal Spinal Muscular Atrophy Syndrome
Spinal muscular atrophy, Spastic tetraparesis, Progressive spastic paraparesis, Optic atrophy, Di... ORPHA:496756
Mitochondrial Complex I Deficiency, Nuclear Type 6
Skeletal muscle atrophy, Optic disc pallor, Axial hypotonia, Optic atrophy, Hypotonia, Generalize... OMIM:618228
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc
Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes... OMIM:616924
X-Linked Intellectual Disability, Stocco Dos Santos Type
Kyphosis, Increased serum serotonin ORPHA:85288
Emery-Dreifuss Muscular Dystrophy 3, Autosomal Recessive
Elbow flexion contracture, Muscular dystrophy, Scoliosis, Generalized amyotrophy, Joint contracture OMIM:616516
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Spinal muscular atrophy, Hypotonia, Myopathy, Scoliosis, Generalized hyp... ORPHA:254875
Progressive Microcephaly-Seizures-Cortical Blindness-Developmental Delay Syndrome
Skeletal muscle atrophy, Optic atrophy, Hypotonia ORPHA:477814
Charcot-Marie-Tooth Disease, Axonal, Type 2K
Decreased motor nerve conduction velocity, Distal amyotrophy, Kyphoscoliosis OMIM:607831
Female Restricted Epilepsy With Intellectual Disability
Hyperactivity, Impulsivity, Abnormal eating behavior, Aggressive behavior, Compulsive behaviors ORPHA:101039
Intellectual Developmental Disorder, Autosomal Recessive 39
Hyperactivity, Abnormal repetitive mannerisms, Aggressive behavior OMIM:615541
Genitopalatocardiac Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis ORPHA:2075
Charcot-Marie-Tooth Disease Type 4D
Decreased motor nerve conduction velocity, Kyphoscoliosis, Upper limb amyotrophy, Distal lower li... ORPHA:99950
Hereditary Motor And Sensory Neuropathy, Type Iic
Hand muscle atrophy, Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Decre... OMIM:606071
Neuropathy, Congenital, With Arthrogryposis Multiplex
Arthrogryposis multiplex congenita, Distal amyotrophy, Spasticity, Hyperlordosis OMIM:162370
Spastic Paraplegia 85, Autosomal Recessive
Lower limb spasticity, Torticollis, Spastic paraplegia, Optic atrophy, Upper limb spasticity, Gen... OMIM:619686
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Axial hypotonia, Optic atroph... OMIM:615419
Primary Angiitis Of The Central Nervous System
Ataxia, Parkinsonism, Paralysis, Paraparesis, Hemiparesis, Pseudopapilledema, Tetraparesis ORPHA:140989
Pontocerebellar Hypoplasia, Type 1A
Spinal muscular atrophy, Hypotonia, Degeneration of anterior horn cells, Congenital contracture, ... OMIM:607596
Leukodystrophy, Hypomyelinating, 3
Appendicular spasticity, Death in infancy, Axial hypotonia, Kyphoscoliosis, Spastic paraparesis, ... OMIM:260600
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Vertebral fusion, Hyperlordosis, Kyphosis, Achilles tendon contracture, Macroglossia, Calf muscle... OMIM:607155
Congenital Myopathy 22A, Classic
Hip contracture, Thoracic scoliosis, Scapular winging, Neonatal hypotonia, Spinal rigidity, Centr... OMIM:620351
Early-Onset Cerebellar Ataxia With Retained Tendon Reflexes
Lower limb spasticity, Optic atrophy, Lower limb hypertonia, Generalized amyotrophy, Scoliosis, L... ORPHA:1177
Charcot-Marie-Tooth Disease Type 4G
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Motor... ORPHA:99953
Marinesco-Sjogren Syndrome
Skeletal muscle atrophy, Ataxia, Centrally nucleated skeletal muscle fibers, Kyphosis, Flexion co... OMIM:248800
Muscular Dystrophy, Autosomal Recessive, With Cardiomyopathy And Triangular Tongue
Skeletal muscle atrophy, Macroglossia, Calf muscle hypertrophy, Muscular dystrophy, Triangular to... OMIM:616827
Neurogenic Arthrogryposis Multiplex Congenita
Skeletal muscle atrophy, Hip contracture, Lower limb muscle weakness, Ankle flexion contracture, ... ORPHA:1143
Vocal Cord And Pharyngeal Distal Myopathy
Amyotrophic lateral sclerosis, Abnormal morphology of musculature of pharynx, Decreased nerve con... ORPHA:600
Seizures, Benign Familial Infantile, 3
Cyanosis OMIM:607745
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant
Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc... OMIM:612999
Acro-Renal-Mandibular Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Hemivertebrae, Scoliosis, Butterfly vertebrae ORPHA:958
Autosomal Recessive Spastic Paraplegia Type 5A
Lower limb spasticity, Atrophy of the spinal cord, Spastic paraplegia, Lower limb amyotrophy, Upp... ORPHA:100986
Arnold-Chiari Malformation Type I
Abnormality of the musculature of the lower limbs, Myelopathy, Cranial nerve compression, Babinsk... ORPHA:268882
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 1
Scapular winging, Myositis, Facial palsy, Flexion contracture, Proximal amyotrophy, Muscular dyst... OMIM:253600
Myopathy Due To Myoadenylate Deaminase Deficiency
Skeletal muscle atrophy, Rhabdomyolysis, Myopathy, Hypotonia OMIM:615511
Multiple Pterygium Syndrome, Escobar Variant
Inguinal hernia, Multiple joint contractures, Thoracolumbar scoliosis, Congenital diaphragmatic h... OMIM:265000
Intellectual Disability-Strabismus Syndrome
Congenital diaphragmatic hernia, Short neck, Achilles tendon contracture, Congenital finger flexi... ORPHA:363528
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 6
Calf muscle hypertrophy, Scapular winging, Muscular dystrophy, Proximal amyotrophy OMIM:601287
Charcot-Marie-Tooth Disease, Demyelinating, Type 1A
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... OMIM:118220
Autosomal Recessive Spastic Paraplegia Type 53
Kyphosis, Upper limb hypertonia, Clonus ORPHA:319199
Myopathy, Distal, 3
Distal amyotrophy, Muscular dystrophy, EMG: myopathic abnormalities, Joint contracture of the han... OMIM:610099
Distal Anoctaminopathy
Proximal muscle weakness in upper limbs, Calf muscle pseudohypertrophy, Peroneal muscle atrophy, ... ORPHA:399096
Seizures, Benign Familial Infantile, 1
Cyanosis OMIM:601764
Classic Multiminicore Myopathy
Absent muscle fiber merosin, Multiple joint contractures, Spinal rigidity, Increased muscle lipid... ORPHA:324604
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2K
Hand muscle atrophy, Skeletal muscle atrophy, Decreased nerve conduction velocity ORPHA:99944
Czeizel-Losonci Syndrome
Posterolateral diaphragmatic hernia, Thoracolumbar scoliosis, Spina bifida, Aplasia of the left h... ORPHA:2437
Hypertrophic Neuropathy Of Dejerine-Sottas
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Kyphoscol... OMIM:145900
X-Linked Adrenoleukodystrophy
Neurogenic bladder, Incoordination, Paralysis, Paraparesis, Progressive spastic paraparesis, Clum... ORPHA:43
Autosomal Dominant Spastic Paraplegia Type 19
Lower limb spasticity, Lower limb muscle weakness, Spinal cord lesion, Lower limb amyotrophy, Spa... ORPHA:100999
Cerebral Cavernous Malformations 3
Paralysis OMIM:603285
Spinal muscular atrophy, type I, with congenital bone fractures
Decreased muscle mass, Flexion contracture, Acute infantile spinal muscular atrophy, Degeneration... OMIM:271225
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Inguinal hernia, Congenital diaphragmatic hernia, Kyp... ORPHA:96170
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia, Scoliosis, Spa... OMIM:617435
Hypokalemic Periodic Paralysis, Type 1
Myopathy, Periodic paralysis OMIM:170400
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Limb-girdle muscle weakness, Achilles tendon contr... ORPHA:254361
Autosomal Dominant Spastic Paraplegia Type 6
Skeletal muscle atrophy, Spastic paraplegia, Lower limb spasticity ORPHA:100988
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant
Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox... OMIM:614302
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis, Scheuermann-like vertebral changes, Cervic... OMIM:301900
Mitochondrial Complex I Deficiency, Nuclear Type 11
Kyphosis, Hypotonia, Myopathy, Scoliosis OMIM:618234
Hereditary Methemoglobinemia
Cyanosis, Spastic tetraplegia, Hypertonia, Limb dystonia, Spasticity ORPHA:621
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 1
Spinal muscular atrophy, Camptodactyly of finger, Decreased nerve conduction velocity, Denervatio... OMIM:604320
Autism Spectrum Disorder Due To Auts2 Deficiency
Inguinal hernia, Cerebral palsy, Kyphosis, Congenital contracture, Hypertonia, Joint contracture ... ORPHA:352490
Sialidosis Type 2
Skeletal muscle atrophy, Inguinal hernia, Ataxia, Tremor, Kyphosis, Flexion contracture, Umbilica... ORPHA:87876
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Decreased motor nerve conduction velocity, Optic disc pallor, Vocal cord paresis, Lumbar hyperlor... OMIM:601152
Craniorachischisis
Omphalocele, Cervical spina bifida, Congenital diaphragmatic hernia, Spinal dysraphism ORPHA:63260
Hyperkalemic Periodic Paralysis
Skeletal muscle atrophy, Death in infancy, Death in early adulthood, Periodic hyperkalemic paraly... ORPHA:682
Hemolytic Anemia, Cd59-Mediated, With Or Without Immune-Mediated Polyneuropathy
Skeletal muscle atrophy, Limb muscle weakness, Paralysis OMIM:612300
Duchenne Muscular Dystrophy
Calf muscle hypertrophy, Skeletal muscle atrophy, Flexion contracture, Scoliosis ORPHA:98896
Fetal Alcohol Syndrome
Vertebral segmentation defect, Congenital diaphragmatic hernia ORPHA:1915
Bethlem Myopathy
Multiple joint contractures, Reduced muscle collagen VI, Limb-girdle muscle weakness, Quadriceps ... ORPHA:610
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Proximal amyotrophy, Myopathy, Type 1 muscle fiber... OMIM:605355
Phenylketonuria
Hyperactivity, Aggressive behavior, Attention deficit hyperactivity disorder, Compulsive behavior... OMIM:261600
Pelvic Dysplasia-Arthrogryposis Of Lower Limbs Syndrome
Skeletal muscle atrophy, Spina bifida occulta, Sacrococcygeal pilonidal abnormality ORPHA:2840
Mitochondrial Dna Depletion Syndrome 9 (Encephalomyopathic Type With Methylmalonic Aciduria)
Skeletal muscle atrophy, Death in infancy, Axial hypotonia, Hypotonia, Death in childhood, Infant... OMIM:245400
O'Donnell-Luria-Rodan Syndrome
Kyphosis, Generalized hypotonia, Prolonged neonatal jaundice OMIM:618512
Heart Defects-Limb Shortening Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Death in infancy ORPHA:1354
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Hypotonia, Congenital foot contractu... OMIM:314580
Digital Extensor Muscle Aplasia-Polyneuropathy
Skeletal muscle atrophy, Camptodactyly of finger, Muscular dystrophy, Abnormal nerve conduction v... ORPHA:2926
Zimmermann-Laband Syndrome 2
Short neck, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:616455
Charcot-Marie-Tooth Disease, Demyelinating, Type 1B
Decreased motor nerve conduction velocity, Kyphoscoliosis, Distal amyotrophy, Limb muscle weaknes... OMIM:118200
Spastic Paraplegia 39, Autosomal Recessive
Atrophy of the spinal cord, Distal amyotrophy, Distal lower limb muscle weakness, Progressive spa... OMIM:612020
Developmental And Epileptic Encephalopathy 86
Generalized amyotrophy, Generalized hypotonia, Dystonia OMIM:618910
Riboflavin Transporter Deficiency
Skeletal muscle atrophy, Optic disc pallor, Facial palsy, Hypotonia, Abnormal autonomic nervous s... ORPHA:97229
Allan-Herndon-Dudley Syndrome
Skeletal muscle atrophy, Axial hypotonia, Dystonia, Kyphoscoliosis, Flexion contracture, Spastic ... ORPHA:59
Normokalemic Periodic Paralysis
Periodic paralysis OMIM:170600
Cyanosis, Transient Neonatal
Jaundice, Cyanosis OMIM:613977
Fucosidosis
Decreased muscle mass, Kyphosis, Spastic tetraplegia, Hypotonia, Anterior beaking of lumbar verte... ORPHA:349
Non-Syndromic Posterior Hypospadias
Omphalocele, Congenital diaphragmatic hernia ORPHA:95706
Chromosome 1Q41-Q42 Deletion Syndrome
Vertebral segmentation defect, Congenital diaphragmatic hernia, Scoliosis OMIM:612530
Spastic Paraplegia 9A, Autosomal Dominant
Lower limb spasticity, Resting tremor, Hiatus hernia, Hoffmann sign, Babinski sign, Spastic parap... OMIM:601162
Marinesco-Sjögren Syndrome
Skeletal muscle atrophy, Rigidity, Optic atrophy, Hypotonia, Myopathy, Hypertonia, Muscular dystr... ORPHA:559
Symptomatic Form Of Coffin-Lowry Syndrome In Female Carriers
Kyphosis, Hypotonia, Scoliosis ORPHA:276630
Snakebite Envenomation
Paralysis, Rhabdomyolysis, Pseudobulbar paralysis, Respiratory paralysis, Muscle fiber necrosis ORPHA:449285
Myofibrillar Myopathy 10
Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Knee flexion contracture, Left ve... OMIM:619040
Neurodevelopmental Disorder With Microcephaly, Movement Abnormalities, And Seizures
Hyperactivity, Aggressive behavior, Inability to walk, Choreoathetosis, Self-injurious behavior OMIM:620023
Sjögren-Larsson Syndrome
Kyphosis, Erythema, Hypotonia, Spastic diplegia, Urticaria, Scoliosis, Spasticity ORPHA:816
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Limb muscle weakness OMIM:607458
Serkal Syndrome
Congenital diaphragmatic hernia ORPHA:139466
Sandhoff Disease
Kyphosis, Ataxia ORPHA:796
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2063
Benign Familial Infantile Epilepsy
Hypertonia, Cyanosis ORPHA:306
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures
Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, S... OMIM:617072
Myasthenic Syndrome, Congenital, 21, Presynaptic
Cyanosis, Fatigable weakness of skeletal muscles, Hypotonia, Knee flexion contracture, Weakness o... OMIM:617239
Congenital Heart Defects And Skeletal Malformations Syndrome
Kyphosis, Congenital diaphragmatic hernia, Scoliosis, Camptodactyly OMIM:617602
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Intellectual Developmental Disorder, X-Linked, Syndromic, Stocco Dos Santos Type
Kyphosis, Scoliosis OMIM:300434
Kleefstra Syndrome 2
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis OMIM:617768
Mitochondrial Dna Depletion Syndrome 18
Hand muscle atrophy, Distal amyotrophy, Scoliosis, Weakness of facial musculature, Foot dorsiflex... OMIM:618811
Charcot-Marie-Tooth Disease, Axonal, Type 2R
Decreased motor nerve conduction velocity, Decreased muscle mass, Vocal cord paralysis, Intrinsic... OMIM:615490
Peripheral Neuropathy, Autosomal Recessive, With Or Without Impaired Intellectual Development
Kyphosis, Foot dorsiflexor weakness, Ataxia, Scoliosis OMIM:618124
Spinal Muscular Atrophy, Lower Extremity-Predominant, 2B, Prenatal Onset, Autosomal Dominant
Skeletal muscle atrophy, Sacral dimple, Multiple joint contractures, Severe muscular hypotonia, K... OMIM:618291
Autosomal Recessive Ataxia, Beauce Type
Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, Babinski sign, Dysmetria, Clums... ORPHA:88644
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome
Distal lower limb amyotrophy, Optic disc pallor, Multiple joint contractures, Optic atrophy, Dist... ORPHA:320406
Zimmermann-Laband Syndrome 3
Kyphosis, Flexion contracture, Generalized hypotonia OMIM:618658
Posterior Column Ataxia With Retinitis Pigmentosa
Hyperintensity of MRI T2 signal of the spinal cord, Skeletal muscle atrophy, Flexion contracture ... OMIM:609033
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Hypotonia ORPHA:2013
Myopathy, Myofibrillar, 8
Scapular winging, Spinal rigidity, Centrally nucleated skeletal muscle fibers, Achilles tendon co... OMIM:617258
White-Sutton Syndrome
Ventral hernia, Inguinal hernia, Incoordination, Facial hypotonia, Congenital diaphragmatic herni... ORPHA:468678
Lowry-Maclean Syndrome
Hemiparesis, Inguinal hernia, Congenital diaphragmatic hernia ORPHA:2409
Intellectual Developmental Disorder, Autosomal Dominant 26
Inguinal hernia, Cerebral palsy, Kyphosis, Hypertonia, Scoliosis, Umbilical hernia, Arthrogryposi... OMIM:615834
Classical-Like Ehlers-Danlos Syndrome Type 1
Skeletal muscle atrophy, Spina bifida occulta, Hypotonia, Bruising susceptibility ORPHA:230839
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Kyphosis, Tremor, Slurred s... ORPHA:812
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Broad-based gait, Hyperactivity, Ataxia, Inappropriate laughter, Polyphagia ORPHA:411515
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant
Skeletal muscle atrophy, Thoracic scoliosis, Death in infancy, Abnormality of skeletal muscle fib... OMIM:620278
Oculocerebrocutaneous Syndrome
Hemiplegia/hemiparesis, Congenital diaphragmatic hernia ORPHA:1647
Ferguson-Bonni Neurodevelopmental Syndrome
Congenital diaphragmatic hernia OMIM:619699
Autosomal Recessive Spastic Paraplegia Type 66
Lower limb spasticity, Limb hypertonia, Lower limb amyotrophy, Spastic gait, Progressive spastic ... ORPHA:401815
Spondylometaphyseal Dysplasia, X-Linked
Hip contracture, Thoracolumbar scoliosis, Kyphosis, Knee flexion contracture, Platyspondyly OMIM:313420
Ataxia-Telangiectasia-Like Disorder 2
Joint contracture, Ataxia, Congenital diaphragmatic hernia OMIM:615919
Poliomyelitis
Skeletal muscle atrophy, Abnormal motor nerve conduction velocity, Hypoplasia of the musculature,... ORPHA:2912
Donnai-Barrow Syndrome
Omphalocele, Diaphragmatic eventration, Umbilical hernia, Congenital diaphragmatic hernia OMIM:222448
Childhood-Onset Motor And Cognitive Regression Syndrome With Extrapyramidal Movement Disorder
Hyperactivity, Impulsivity, Aggressive behavior, Inability to walk, Gait ataxia, Dysphagia ORPHA:500180
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... ORPHA:99956
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Lower limb spasticity, Abnormality of the musculature of the lower limbs, Ataxia, Kyphosis, Fasci... ORPHA:464282
Crisponi Syndrome
Death in infancy, Camptodactyly of finger, Kyphosis, Flexion contracture, Hypertonia, Scoliosis ORPHA:1545
1Q41Q42 Microdeletion Syndrome
Congenital diaphragmatic hernia ORPHA:250999
White-Sutton Syndrome
Facial hypotonia, Optic nerve hypoplasia, Congenital diaphragmatic hernia, Short neck, Hypoplasti... OMIM:616364
Secondary Syringomyelia
Hyperintensity of MRI T2 signal of the spinal cord, Back pain, Paraplegia, Fatigable weakness, Pr... ORPHA:99857
Diaphragmatic Hernia 2
Agenesis of the diaphragm, Congenital diaphragmatic hernia OMIM:222400
Amyotrophy, Monomelic
Upper limb muscle weakness, Interosseus muscle atrophy, Cervical spinal cord atrophy OMIM:602440
Vacterl/Vater Association
Omphalocele, Abnormal intervertebral disk morphology, Congenital diaphragmatic hernia, Abnormal s... ORPHA:887
Breath-Holding Spells
Cyanosis OMIM:607578
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Abnormal fear-induced behavior, S... ORPHA:3077
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Optic atrophy, Increas... OMIM:258450
Lissencephaly 8
Appendicular spasticity, Skeletal muscle atrophy, Axial hypotonia, Optic atrophy OMIM:617255
Mitochondrial Dna Depletion Syndrome 14 (Cardioencephalomyopathic Type)
Hypertonia, Skeletal muscle atrophy, Axial hypotonia, Opisthotonus OMIM:616896
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gliosis, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spasticity OMIM:221770
Immune-Mediated Necrotizing Myopathy
Skeletal muscle atrophy, Myositis, Scapular winging, Fatiguable weakness of proximal limb muscles... ORPHA:206569
Autosomal Recessive Centronuclear Myopathy
Hip contracture, Scapular winging, Facial palsy, Hyperlordosis, Centrally nucleated skeletal musc... ORPHA:169186
Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive
Decreased motor nerve conduction velocity, Lower limb spasticity, Atrophy of the spinal cord, Spa... OMIM:256840
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Abnormal dental enamel morphology, Congenital diaphragmatic hernia,... ORPHA:2092
Developmental Delay, Language Impairment, And Ocular Abnormalities
Hyperactivity, Impulsivity, Aggressive behavior, Attention deficit hyperactivity disorder, Freque... OMIM:620141
Winchester Syndrome
Kyphosis OMIM:277950
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis
Congenital diaphragmatic hernia OMIM:606164
Juvenile Hyaline Fibromatosis
Skeletal muscle atrophy, Progressive flexion contractures, Death in infancy ORPHA:2028
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Kyphosis, Spasticity, Scoliosis ORPHA:2429
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2
Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f... OMIM:615422
Japanese Encephalitis
Decreased motor nerve conduction velocity, Hyperintensity of MRI T2 signal of the spinal cord, Sk... ORPHA:79139
Charcot-Marie-Tooth Disease, Dominant Intermediate A
Skeletal muscle atrophy, Limb muscle weakness OMIM:620378
Trisomy 1Q
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia ORPHA:261344
Spinocerebellar Ataxia 1
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Optic disc pallor, Optic atro... OMIM:164400
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Limb joint contracture, Kyphoscoliosis OMIM:612079
2Q37 Microdeletion Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Short neck ORPHA:1001
Pseudohyperkalemia, Familial, 2, Due To Red Cell Leak
Hand tremor, Periodic paralysis OMIM:609153
Emery-Dreifuss Muscular Dystrophy 1, X-Linked
Skeletal muscle atrophy, Achilles tendon contracture, Type 1 muscle fiber atrophy, Elbow flexion ... OMIM:310300
Neuropathy, Hereditary Motor And Sensory, Okinawa Type
Degeneration of anterior horn cells, Proximal amyotrophy OMIM:604484
Microcephaly, Cerebellar Hypoplasia, And Cardiac Conduction Defect Syndrome
Hypotonia, Joint contracture of the 5th finger, Generalized hypotonia, Dystonia, Acrocyanosis OMIM:614407
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
Pericardial And Diaphragmatic Defect
Aplasia of the left hemidiaphragm, Congenital diaphragmatic hernia ORPHA:2847
Autosomal Recessive Spastic Paraplegia Type 39
Atrophy of the spinal cord, Spastic paraplegia, Generalized limb muscle atrophy, Lower limb spast... ORPHA:139480
Thakker-Donnai Syndrome
Cervical C2/C3 vertebral fusion, Hemivertebrae, Congenital diaphragmatic hernia, Short neck ORPHA:1780
Cdkl5-Deficiency Disorder
Kyphosis, Abnormal muscle tone, Scoliosis ORPHA:505652
Hsd10 Disease, Infantile Type
Cyanosis, Spastic tetraparesis, Optic atrophy, Hypotonia, Spastic diplegia, Dystonia ORPHA:391428
Iniencephaly
Omphalocele, Spina bifida, Hyperlordosis, Congenital diaphragmatic hernia, Absent vertebra, Spina... ORPHA:63259
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency
Skeletal muscle atrophy, Severe muscular hypotonia, Flexion contracture, Abnormal muscle glycogen... ORPHA:367
Triosephosphate Isomerase Deficiency
Skeletal muscle atrophy, Optic disc pallor, Dystonia, Death in infancy, Kyphosis, Jaundice, Hypot... OMIM:615512
Pontocerebellar Hypoplasia, Type 1B
Skeletal muscle atrophy, Axial hypotonia, Flexion contracture, Generalized hypotonia, Spasticity OMIM:614678
Wolf-Hirschhorn Syndrome
Sacral dimple, Tethered cord, Ataxia, Congenital diaphragmatic hernia, Kyphosis, Optic atrophy, A... ORPHA:280
Ane Syndrome
Decreased serum insulin-like growth factor 1, Multiple joint contractures, Kyphoscoliosis, Reduce... ORPHA:157954
Kennedy Disease
Skeletal muscle atrophy, Hypotonia ORPHA:481
Arterial Tortuosity Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Hiatus hernia, Flexion contracture, Scoliosis, ... OMIM:208050
Cryofibrinogenemia, Familial Primary
Acrocyanosis OMIM:123540
Intellectual Developmental Disorder, X-Linked 107
Hyperactivity, Attention deficit hyperactivity disorder, Aggressive behavior OMIM:301013
Hemifacial Atrophy, Progressive
Kyphosis, Ataxia, Horner syndrome OMIM:141300
Leukodystrophy, Hypomyelinating, 5
Decreased motor nerve conduction velocity, Axial hypotonia, Lower limb muscle weakness, Scoliosis... OMIM:610532
Spondyloepiphyseal Dysplasia, Kondo-Fu Type
Kyphosis, Inguinal hernia OMIM:618392
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Elbow flexion contracture, Congenital diaphragmatic hernia OMIM:618022
X-Linked Intellectual Disability-Hypogammaglobulinemia-Progressive Neurological Deterioration Syndrome
Kyphosis, Ataxia, Scoliosis ORPHA:85317
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Proximal mus... OMIM:620138
Cryptorchidism-Arachnodactyly-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis ORPHA:1548
Medium Chain Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Hypotonia, Fatigable weakness, Myopathy, Distal arthrogryposis, Fatigabl... ORPHA:42
Atypical Rett Syndrome
Involuntary movements, Tremor, Kyphosis, Limb myoclonus, Gait ataxia, Pill-rolling tremor, Scolio... ORPHA:3095
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome
Ataxia, Truncal titubation, Kyphosis, Abnormal spinal cord morphology, Gait ataxia, Abnormal sens... ORPHA:88628
Alpha-Mannosidosis
Short neck, Kyphosis, Hypotonia, Macroglossia, Scoliosis, Generalized abnormality of skin ORPHA:61
Holoprosencephaly
Omphalocele, Congenital diaphragmatic hernia, Short neck, Chorea, Optic atrophy, Spinal cord tumo... ORPHA:2162
Lipodystrophy, Familial Partial, Type 6
Skeletal muscle atrophy, Lumbar hyperlordosis, Myopathy, Muscular dystrophy, Lower limb muscle we... OMIM:615980
Spastic Paraplegia 11, Autosomal Recessive
Skeletal muscle atrophy, Lower limb spasticity, Thenar muscle atrophy, Spastic paraplegia, Lower ... OMIM:604360
Encephalopathy, Ethylmalonic
Death in infancy, Acrocyanosis, Hypotonia, Petechiae OMIM:602473
Combined Oxidative Phosphorylation Defect Type 23
Left ventricular hypertrophy, Cyanosis, Infantile muscular hypotonia, Right ventricular hypertrophy ORPHA:444013
Amyotrophic Dystonic Paraplegia
Skeletal muscle atrophy, Spastic paraplegia, Dystonia OMIM:105300
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Generalized hypotonia, Prolonged neonatal jaundice OMIM:616828
Congenital Fibrinogen Deficiency
Cyanosis, Opisthotonus, Left ventricular hypertrophy, Bruising susceptibility, Subcutaneous hemor... ORPHA:335
Mosaic Trisomy 1
Omphalocele, Thoracic scoliosis, Camptodactyly of finger, Congenital diaphragmatic hernia, Elbow ... ORPHA:1692
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Elbow flexion contracture, Platyspo... OMIM:245600
Cln5 Disease
Hyperactivity, Ataxia, Aggressive behavior, Inability to walk, Unsteady gait, Dysmetria, Dysdiado... ORPHA:228360
Pentalogy Of Cantrell
Omphalocele, Congenital diaphragmatic hernia, Scoliosis ORPHA:1335
Brachyolmia Type 3
Short neck, Spinal cord compression, Kyphosis, Platyspondyly, Scoliosis OMIM:113500
Developmental Delay With Or Without Dysmorphic Facies And Autism
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Optic disc coloboma, Scoliosis, Um... OMIM:618454
Isolated Succinate-Coq Reductase Deficiency
Skeletal muscle atrophy, Spastic tetraparesis, Knee flexion contracture, Distal amyotrophy, Skele... ORPHA:3208
Cutis Laxa, Autosomal Recessive, Type Ia
Umbilical hernia, Inguinal hernia, Congenital diaphragmatic hernia OMIM:219100
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck ORPHA:2059
46,Xx Sex Reversal 5
Aplasia of the left hemidiaphragm OMIM:618901
Benign Familial Neonatal Epilepsy
Circumoral cyanosis, Axial hypotonia ORPHA:1949
Facioscapulohumeral Dystrophy
Skeletal muscle atrophy, Hyperlordosis ORPHA:269
Ck Syndrome
Kyphosis, Generalized hypotonia, Scoliosis, Hyperlordosis OMIM:300831
Becker Nevus Syndrome
Shoulder girdle muscle atrophy, Kyphosis, Spina bifida occulta, Scoliosis ORPHA:64755
Basilar Impression, Primary
Kyphoscoliosis, Short neck, Horner syndrome, Syringomyelia, Abnormal cervical myelogram, Limb mus... OMIM:109500
Toxin-Mediated Infectious Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
8P23.1 Microdeletion Syndrome
Congenital diaphragmatic hernia, Short neck ORPHA:251071
Bruck Syndrome 1
Hip contracture, Ankle flexion contracture, Kyphosis, Elbow flexion contracture, Vertebral wedgin... OMIM:259450
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Hypotonia, Myopathy, Generalize... OMIM:616239
Thyrotoxic Periodic Paralysis, Susceptibility To, 1
Rhabdomyolysis, Periodic paralysis OMIM:188580
Microphthalmia, Syndromic 9
Neonatal death, Diaphragmatic eventration, Inguinal hernia, Congenital diaphragmatic hernia OMIM:601186
Hall-Riggs Syndrome
Kyphosis, Irregular vertebral endplates, Platyspondyly, Scoliosis, Intrauterine growth retardation OMIM:234250
Pituitary Adenoma 4, Acth-Secreting
Skeletal muscle atrophy, Poor wound healing, Kyphosis, Increased circulating ACTH level, Facial e... OMIM:219090
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Kyphosis, Distal arthrogryposis, Firm muscles, Hypertonia, Scoliosis, Cong... OMIM:108145
Autosomal Recessive Spastic Paraplegia Type 55
Skeletal muscle atrophy, Lower limb spasticity, Optic neuropathy, Tibialis muscle weakness, Optic... ORPHA:320375
Pomgnt2-Related Limb-Girdle Muscular Dystrophy R24
Calf muscle hypertrophy, Skeletal muscle atrophy, Myositis, Proximal muscle weakness in lower limbs ORPHA:565899
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis
Skeletal muscle atrophy, Joint contracture, Scoliosis OMIM:615704
Severe Congenital Nemaline Myopathy
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Flexion contracture, Facial dip... ORPHA:171430
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Optic atrophy, Upper limb muscle weakness, Facial di... ORPHA:254930
Denys-Drash Syndrome
Posterolateral diaphragmatic hernia, Neonatal death, Congenital diaphragmatic hernia OMIM:194080
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities
Skeletal muscle atrophy, Frog-leg posture, Generalized hypotonia OMIM:618603
Microcephalic Primordial Dwarfism, Montreal Type
Prematurely aged appearance, Kyphosis, Premature graying of hair, Vertebral segmentation defect, ... ORPHA:2617
Intellectual Developmental Disorder, X-Linked, Syndromic, Chudley-Schwartz Type
Kyphosis, Ataxia, Scoliosis OMIM:300861
Tick-Borne Encephalitis
Back pain, Skeletal muscle atrophy, Speech apraxia, Incoordination, Facial palsy, Paralysis, Trem... ORPHA:297
Acth-Independent Macronodular Adrenal Hyperplasia
Skeletal muscle atrophy, Kyphosis, Decreased circulating ACTH concentration, Increased circulatin... OMIM:219080
Hereditary Sensory And Autonomic Neuropathy Type 2
Skeletal muscle atrophy, Hyperlordosis ORPHA:970
7Q11.23 Microduplication Syndrome
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Hemivertebrae, Dysme... ORPHA:96121
Pagod Syndrome
Omphalocele, Death in infancy, Congenital diaphragmatic hernia, Spina bifida, Optic atrophy ORPHA:991
Ataxia-Telangiectasia
Skeletal muscle atrophy, Telangiectasia of the skin, Prematurely aged appearance, Premature grayi... ORPHA:100
Metatropic Dysplasia
Relatively short spine, Kyphoscoliosis, Hypoplasia of the odontoid process, Kyphosis, Flexion con... OMIM:156530
Schwartz-Jampel Syndrome, Type 1
Skeletal muscle atrophy, Hip contracture, Lumbar hyperlordosis, Cervical kyphosis, Kyphoscoliosis... OMIM:255800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25
Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness,... OMIM:616812
Histidinemia
Hyperactivity ORPHA:2157
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1
Tremor, Spasticity, Choreoathetosis, Congenital diaphragmatic hernia OMIM:614080
Proximal Spinal Muscular Atrophy
Skeletal muscle atrophy, Multiple joint contractures, Quadriceps muscle weakness, Flexion contrac... ORPHA:70
Cornelia De Lange Syndrome 1
Inguinal hernia, Congenital diaphragmatic hernia, Short neck, Hiatus hernia, Optic disc coloboma,... OMIM:122470
Early-Onset Progressive Encephalopathy-Hearing Loss-Pons Hypoplasia-Brain Atrophy Syndrome
Neurogenic bladder, Vocal cord paralysis, Optic atrophy, Increased cup-to-disc ratio, Myoclonus, ... ORPHA:500144
Trisomy 18
Omphalocele, Camptodactyly of finger, Congenital diaphragmatic hernia, Spina bifida, Hypertonia, ... ORPHA:3380
Spinocerebellar Ataxia Type 1
Skeletal muscle atrophy, Optic atrophy, Abnormality of masticatory muscle, Generalized hypotonia,... ORPHA:98755
Metatropic Dysplasia
Abnormal intervertebral disk morphology, Camptodactyly of finger, Kyphosis, Abnormal form of the ... ORPHA:2635
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Progeroid facial appearance, Kyphoscoliosis, Flexion contracture, Hypotonia ORPHA:75496
Developmental Malformations-Deafness-Dystonia Syndrome
Death in early adulthood, Generalized dystonia, Kyphosis, Macroglossia, Scoliosis ORPHA:79107
Diamond-Blackfan Anemia 10
Congenital diaphragmatic hernia, Morgagni diaphragmatic hernia OMIM:613309
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 2
Skeletal muscle atrophy, Hypotonia OMIM:619759
Intellectual Developmental Disorder, X-Linked, Syndromic, Cabezas Type
Distal lower limb amyotrophy, Kyphosis, Hypotonia, Macroglossia, Generalized hypotonia OMIM:300354
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Kyphosis, Achilles tendon contracture, Flexion contrac... OMIM:301041
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Axial hypotonia, Optic atrophy, Spastic tetraplegia, Hypertonia, General... OMIM:617710
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures
Axial hypotonia, Cyanosis, Hypotonia, Opisthotonus, Generalized hypotonia, Limb hypertonia OMIM:619580
Camurati-Engelmann Disease, Type 2
Hip contracture, Skeletal muscle atrophy, Thoracolumbar scoliosis, Knee flexion contracture OMIM:606631
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome
Kyphosis, Platyspondyly ORPHA:2786
Baralle-Macken Syndrome
Neonatal hypotonia, Kyphosis, Spasticity, Dystonia OMIM:619255
Mcdonough Syndrome
Kyphosis, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis ORPHA:2471
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Limb-girdle muscle weakness, Upper limb muscle weakness, Hypertonia, Genera... ORPHA:466768
Mitochondrial Phosphate Carrier Deficiency
Cyanosis, Hypotonia OMIM:610773
Acrorenal-Mandibular Syndrome
Kyphoscoliosis, Congenital diaphragmatic hernia, Hemivertebrae, Elbow flexion contracture, Abnorm... OMIM:200980
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Ataxia, Parkinsonism, Tremor, Babinski ... OMIM:614298
X-Linked Intellectual Disability, Miles-Carpenter Type
Skeletal muscle atrophy ORPHA:85283
Seckel Syndrome 9
Congenital diaphragmatic hernia OMIM:616777
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Axial hypotonia, Kyphosis, Knee flexion contracture OMIM:603387
Craniofrontonasal Syndrome
Umbilical hernia, Congenital diaphragmatic hernia, Scoliosis, Short neck OMIM:304110
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Spasticity OMIM:616719
Flynn-Aird Syndrome
Kyphosis, Ataxia, Scoliosis, Skeletal muscle atrophy ORPHA:2047
Oligomeganephronia
Optic disc coloboma, Congenital diaphragmatic hernia ORPHA:2260
Matthew-Wood Syndrome
Congenital diaphragmatic hernia ORPHA:2470
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase
Hypertonia, Cyanosis, Opisthotonus OMIM:250800
Dravet Syndrome
Rigidity, Cyanotic episode, Infantile muscular hypotonia, Cogwheel rigidity ORPHA:33069
Tricuspid Atresia
Cyanosis ORPHA:1209
Chromosome 15Q25 Deletion Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Short neck OMIM:614294
Autosomal Recessive Spastic Paraplegia Type 78
Skeletal muscle atrophy, Neurogenic bladder, Progressive spastic quadriplegia, Facial myokymia, D... ORPHA:513436
Tetrasomy 5P
Neonatal hypotonia, Aplasia/Hypoplasia of the abdominal wall musculature, Cyanosis, Short neck ORPHA:3309
Hydrocephaly-Tall Stature-Joint Laxity Syndrome
Hemiplegia, Kyphosis, Umbilical hernia, Scoliosis ORPHA:2181
Glycogen Storage Disease Due To Muscle Phosphofructokinase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy ORPHA:371
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neurogenic bladder, Axial hypotonia, Lower limb spasticity, Kyphoscoliosis, ... ORPHA:466722
Deafness-Vitiligo-Achalasia Syndrome
Skeletal muscle atrophy ORPHA:3239
Gm2-Gangliosidosis, Ab Variant
Exaggerated startle response, Spastic tetraparesis, Paralysis, Chorea, Abnormal pyramidal sign, H... OMIM:272750
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Facial diplegia, Facial paralysis OMIM:613559
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Hypertonia, Scoliosis, Dystonia ORPHA:96
Monosomy 9P
Congenital diaphragmatic hernia, Short neck, Abnormality of the vertebral column, Hypertonia, Her... ORPHA:261112
Simpson-Golabi-Behmel Syndrome
Omphalocele, Vertebral fusion, Inguinal hernia, Death in infancy, Camptodactyly of finger, Congen... ORPHA:373
Rett Syndrome
Skeletal muscle atrophy, Abnormal autonomic nervous system physiology, Increased serum leptin, Dy... ORPHA:778
Myopathy, Granulovacuolar Lobular, With Electrical Myotonia
Skeletal muscle atrophy OMIM:254950
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures
Skeletal muscle atrophy, Spasticity, Axial hypotonia, Generalized hypotonia OMIM:618862
Uruguay Faciocardiomusculoskeletal Syndrome
Left ventricular hypertrophy, Kyphoscoliosis, Kyphosis, Skeletal muscle hypertrophy, Scoliosis, C... OMIM:300280
Thyrotoxic Periodic Paralysis
Abnormal muscle fiber morphology, Tremor, Paralysis, Rhabdomyolysis, Tetraplegia, Respiratory par... ORPHA:79102
Hip Dysplasia, Beukes Type
Kyphosis, Scoliosis ORPHA:2114
Poland Syndrome
Congenital diaphragmatic hernia, Short neck, Kyphosis, Aplasia of the pectoralis major muscle, He... ORPHA:2911
Laryngeal Abductor Paralysis-Intellectual Disability Syndrome
Vocal cord paralysis ORPHA:2375
Thoracoabdominal Syndrome
Omphalocele, Congenital diaphragmatic hernia, Ventral hernia OMIM:313850
Pontocerebellar Hypoplasia, Type 11
Skeletal muscle atrophy, Spasticity, Generalized hypotonia OMIM:617695
Weismann-Netter Syndrome
Kyphosis, Horizontal sacrum, Scoliosis OMIM:112350
Limb Body Wall Complex
Ventral hernia, Diastasis recti, Spina bifida, Congenital diaphragmatic hernia, Abnormal spinal c... ORPHA:2369
Arthrogryposis, Distal, Type 4
Torticollis, Kyphosis, Camptodactyly of 2nd-5th fingers, Lumbar scoliosis, Distal arthrogryposis,... OMIM:609128
Spinal Muscular Atrophy With Congenital Bone Fractures 1
Severe muscular hypotonia, Spinal muscular atrophy, Flexion contracture, Increased variability in... OMIM:616866
Eosinophilic Fasciitis
Muscular edema, Myositis, Acrocyanosis ORPHA:3165
Mitochondrial Complex I Deficiency, Nuclear Type 1
Skeletal muscle atrophy, Optic disc pallor, Cyanosis, Death in infancy, Optic neuropathy, Ragged-... OMIM:252010
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Tethered cord, Inguinal hernia, Neurogenic bladder, Shor... OMIM:130720
Pitt-Hopkins-Like Syndrome 1
Hyperactivity, Ataxia, Aggressive behavior, Attention deficit hyperactivity disorder, Abnormal re... OMIM:610042
Smith-Lemli-Opitz Syndrome
Aganglionic megacolon, Abnormal dental enamel morphology, Congenital diaphragmatic hernia, Short ... ORPHA:818
Rett Syndrome
Skeletal muscle atrophy, Kyphosis, Gait apraxia, Gait ataxia, Scoliosis, Truncal ataxia, Spasticity OMIM:312750
Mycophenolate Mofetil Embryopathy
Bifid thoracic vertebrae, Congenital diaphragmatic hernia ORPHA:268249
Ectodermal Dysplasia-Sensorineural Deafness Syndrome
Camptodactyly of finger, Kyphosis, Joint contracture of the 5th finger, Scoliosis, Hidrotic ectod... ORPHA:1883
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Rigidity, Kyphosis, Babinski sign, Abnormal ... ORPHA:97349
Primary Pulmonary Hypoplasia
Hypoxemia, Cyanosis, Abnormal hemidiaphragm morphology ORPHA:2257
Paramyotonia Congenita Of Von Eulenburg
Facial muscle hypertrophy, EMG: myopathic abnormalities, Periodic hypokalemic paresis ORPHA:684
Kabuki Syndrome
Congenital diaphragmatic hernia, Vertebral clefting, Hemivertebrae, Abnormal form of the vertebra... ORPHA:2322
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Brachial plexus neuropathy OMIM:162100
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Spinal cord compression, Kyphosis, Short neck, Fused cervical vertebrae ORPHA:2522
Buerger Disease
Acrocyanosis ORPHA:36258
Diets-Jongmans Syndrome
Umbilical hernia, Inguinal hernia, Gliosis, Congenital diaphragmatic hernia OMIM:618846
Ethylmalonic Encephalopathy
Acrocyanosis, Generalized hypotonia, Petechiae ORPHA:51188
Spondyloepiphyseal Dysplasia Congenita
Lumbar hyperlordosis, Ovoid vertebral bodies, Short neck, Hypoplasia of the odontoid process, Kyp... OMIM:183900
Combined Oxidative Phosphorylation Deficiency 18
Skeletal muscle atrophy, Hypotonia OMIM:615578
Cutis Laxa, Autosomal Recessive, Type Ic
Posterolateral diaphragmatic hernia, Death in infancy, Inguinal hernia, Morgagni diaphragmatic he... OMIM:613177
Multiple Endocrine Neoplasia, Type Iib
Aganglionic megacolon, Hyperlordosis, Kyphosis, Hypotonia, Elevated circulating calcitonin concen... OMIM:162300
Glycogen Storage Disease Iv
Skeletal muscle atrophy, Arthrogryposis multiplex congenita, Hypotonia, Generalized hypotonia OMIM:232500
Frank-Ter Haar Syndrome
Inguinal hernia, Camptodactyly of finger, Kyphosis, Scoliosis, Umbilical hernia, Beaking of verte... ORPHA:137834
Aymé-Gripp Syndrome
Inguinal hernia, Congenital diaphragmatic hernia, Scoliosis, Camptodactyly ORPHA:1272
Methemoglobinemia And Ambiguous Genitalia
Decreased circulating dehydroepiandrosterone-sulfate concentration, Cyanosis, Elevated circulatin... OMIM:250790
X-Linked Intellectual Disability-Hypotonia-Facial Dysmorphism-Aggressive Behavior Syndrome
Skeletal muscle atrophy, Myopathy, Generalized hypotonia ORPHA:85329
Opitz Gbbb Syndrome
Omphalocele, Inguinal hernia, Congenital diaphragmatic hernia, Vertebral segmentation defect, Umb... ORPHA:2745
Autosomal Recessive Spastic Paraplegia Type 35
Lower limb spasticity, Spastic tetraparesis, Kyphosis, Babinski sign, Optic atrophy, Spastic para... ORPHA:171629
L1 Syndrome
Skeletal muscle atrophy, Spasticity, Aganglionic megacolon ORPHA:275543
Intellectual Developmental Disorder, Autosomal Dominant 45
Hyperactivity, Recurrent hand flapping, Abnormal repetitive mannerisms, Attention deficit hyperac... OMIM:617600
Niemann-Pick Disease, Type A
Skeletal muscle atrophy, Rigidity, Hypotonia, Prolonged neonatal jaundice, Spasticity OMIM:257200
Microhydranencephaly
Spastic tetraplegia, Skeletal muscle atrophy, Multiple joint contractures, Generalized amyotrophy OMIM:605013
Intellectual Developmental Disorder, Autosomal Dominant 23
Kyphosis, Sacral dimple, Scoliosis, Hyperlordosis OMIM:615761
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Kyphosis, Hypotonia, Scoliosis OMIM:619797
Osteogenesis Imperfecta, Type Xiii
Skeletal muscle atrophy, Kyphoscoliosis, Hypotonia, Platyspondyly, Generalized hypotonia, Scoliosis OMIM:614856
Sandhoff Disease, Juvenile Form
Skeletal muscle atrophy, Limb joint contracture ORPHA:309162
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Periodic paralysis ORPHA:757
46,Xx Sex Reversal With Dysgenesis Of Kidneys, Adrenals, And Lungs
Congenital diaphragmatic hernia OMIM:611812
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Kyphosis, Hypotonia, Scoliosis OMIM:300676
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Congenital muscular torticollis, Vaginal hernia, Abnormal dental enamel morphol... ORPHA:2916
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:238750
Laryngeal Abductor Paralysis
Cyanosis OMIM:150260
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Spastic paraplegia, Optic atrophy, Myopathy, Temporal ... ORPHA:98673
Interstitial Pneumonitis, Desquamative, Familial
Cyanosis OMIM:263000
X-Linked Intellectual Disability-Acromegaly-Hyperactivity Syndrome
Hyperactivity, Aggressive behavior ORPHA:85327
Meacham Syndrome
Death in infancy, Aplasia of the right hemidiaphragm, Aplasia of the left hemidiaphragm, Stillbir... OMIM:608978
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Back pain, Lumbar hyperlordosis, Short neck, Kyphosis, Platyspondyly, Hump-shaped mound of bone i... OMIM:313400
Mucopolysaccharidosis, Type Iva
Inguinal hernia, Ovoid vertebral bodies, Hyperlordosis, Short neck, Hypoplasia of the odontoid pr... OMIM:253000
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Kyphosis, Scoliosis ORPHA:1858
Congenital Pulmonary Lymphangiectasia
Cyanosis ORPHA:2414
Foodborne Botulism
Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Obesity-Hypoventilation Syndrome
Cyanosis OMIM:257500
Acrofacial Dysostosis 1, Nager Type
Abnormality of the cervical spine, Congenital diaphragmatic hernia, Aganglionic megacolon, Scoliosis OMIM:154400
Charcot-Marie-Tooth Disease Type 4C
Decreased motor nerve conduction velocity, Neuropathic spinal arthropathy, Frequent falls, Optic ... ORPHA:99949
12Q14 Microdeletion Syndrome
Skeletal muscle atrophy, Syringomyelia, Hypotonia, Scoliosis ORPHA:94063
Lethal Congenital Contracture Syndrome Type 1
Skeletal muscle atrophy, Abnormal form of the vertebral bodies, Short neck ORPHA:1486
Congenital Heart Block
Cyanosis ORPHA:60041
Mullegama-Klein-Martinez Syndrome
Congenital diaphragmatic hernia, Facial palsy, Scoliosis OMIM:301022
Pelizaeus-Merzbacher Disease
Ataxia, Kyphosis, Optic atrophy, Choreoathetosis, Scoliosis, Spasticity ORPHA:702
Mucolipidosis Iii Gamma
Hyperlordosis, Kyphosis, Scoliosis, Short neck OMIM:252605
Congenital Myopathy 13
Skeletal muscle atrophy, Kyphoscoliosis, Hypercapnia, Fatty replacement of skeletal muscle, Flexi... OMIM:255995
Neuropathy, Hereditary Sensory And Autonomic, Type Ia
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased sensory nerve condu... OMIM:162400
Schaaf-Yang Syndrome
Kyphosis, Flexion contracture, Scoliosis, Camptodactyly, Neonatal hypotonia, Arthrogryposis multi... OMIM:615547
Diastrophic Dysplasia
Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Scoliosis, H... ORPHA:628
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Congenital diaphragmatic hernia, Short neck OMIM:616546
Bruck Syndrome
Kyphosis, Platyspondyly, Arthrogryposis multiplex congenita, Scoliosis ORPHA:2771
Gm1 Gangliosidosis
Inguinal hernia, Ataxia, Camptodactyly of finger, Hyperlordosis, Tremor, Kyphosis, Aplasia/Hypopl... ORPHA:354
Rhizomelic Chondrodysplasia Punctata, Type 5
Skeletal muscle atrophy, Thoracic scoliosis, Contractures of the large joints OMIM:616716
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Rhabdomyolysis, Hypotonia, Myopathy, Increased intramyocellular lipid dr... OMIM:255125
Gm1-Gangliosidosis, Type I
Death in infancy, Short neck, Kyphosis, Hypotonia, Angiokeratoma corporis diffusum, Hypoplastic v... OMIM:230500
46,Xy Gonadal Dysgenesis-Motor And Sensory Neuropathy Syndrome
Skeletal muscle atrophy, Increased circulating gonadotropin level, Decreased serum estradiol, Dec... ORPHA:168563
Cog8-Cdg
Spontaneous hematomas, Skeletal muscle atrophy, Infantile muscular hypotonia ORPHA:95428
Glioblastoma
Paralysis ORPHA:360
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Skeletal muscle atrophy, Optic disc pallor, Kyphoscoliosis, Short neck, Hypoplasia of the odontoi... OMIM:300232
High Altitude Pulmonary Edema
Hypoxemia, Cyanosis ORPHA:330012
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Abnormal muscle fiber morphology, Facial palsy, Hyperlordosis ORPHA:3068
Waardenburg Syndrome Type 3
Acrocyanosis, Camptodactyly of finger, Spastic paraplegia ORPHA:896
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Osteogenesis Imperfecta, Type Ix
Kyphosis, Platyspondyly, Dentinogenesis imperfecta, Scoliosis OMIM:259440
Global Developmental Delay, Lung Cysts, Overgrowth, And Wilms Tumor
Kyphosis, Sacral dimple, Umbilical hernia, Inguinal hernia OMIM:618272
X-Linked Intellectual Disability Due To Gria3 Mutations
Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Spasticity, Abnormality of muscl... ORPHA:364028
Laryngotracheal Angioma
Cyanosis ORPHA:137935
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Congenital diaphragmatic hernia, Spastic tetraparesis, Hypertonia, Scoliosis, Camptodactyly, Cont... OMIM:301044
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Hypertonia, Cyanosis, Opisthotonus ORPHA:3304
Spondylometaphyseal Dysplasia, Kozlowski Type
Cervical platyspondyly, Lumbar hyperlordosis, Limb joint contracture, Increased intervertebral sp... ORPHA:93314
Hyperkalemic Periodic Paralysis
Periodic hyperkalemic paralysis OMIM:170500
Aicardi-Goutieres Syndrome 1
Axial hypotonia, Dystonia, Erythema, Prolonged neonatal jaundice, Spasticity, Acrocyanosis, Petec... OMIM:225750
Multiple Acyl-Coa Dehydrogenase Deficiency
Skeletal muscle atrophy, Scapular winging, Hyperlordosis, Rhabdomyolysis, Hypotonia, Fatigable we... ORPHA:26791
Pheochromocytoma/Paraganglioma Syndrome 2
Vocal cord paralysis OMIM:601650
Hypomelanosis Of Ito
Kyphosis, Scoliosis OMIM:300337
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Ragged-red muscle fibers, Lower limb muscle weakness OMIM:616479
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Abnormal autonomic nervous system physiology, Paralysis ORPHA:83601
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Severe muscular hypotonia, Facial palsy, Hypoplasia of the musculature, ... OMIM:254940
Acquired Methemoglobinemia
Hypoxemia, Cyanosis ORPHA:464453
Neuraminidase Deficiency
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia OMIM:256550
Cockayne Syndrome Type 2
Lower limb spasticity, Axial hypotonia, Progeroid facial appearance, Kyphosis, Flexion contractur... ORPHA:90322
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Skeletal muscle atrophy, Spinal rigidity, Flexion contracture, Optic atrophy, Hypotonia, Calf mus... OMIM:253800
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive
Skeletal muscle atrophy, Achilles tendon contracture, Ragged-red muscle fibers, Left ventricular ... OMIM:615418
Marden-Walker Syndrome
Decreased muscle mass, Short neck, Kyphosis, Hypotonia, Congenital contracture, Scoliosis, Campto... OMIM:248700
Hypoadrenocorticism, Familial
Cyanosis OMIM:240200
Pontocerebellar Hypoplasia, Type 17
Paroxysmal dystonia, Axial hypotonia, Kyphosis, Spastic tetraplegia, Limb hypertonia OMIM:619909
Infant Acute Respiratory Distress Syndrome
Hypoxemia, Cyanosis ORPHA:70587
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Hyperlordosis, Kyphosis, Scoliosis, Generalized hypotonia, Bruising susceptibility, Fragile skin OMIM:617821
Foxg1 Syndrome Due To 14Q12 Microdeletion
Macroglossia, Kyphosis, Hypotonia, Scoliosis ORPHA:261144
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Dystonia, Scoliosis, Spastic paraparesis OMIM:615157
Alg1-Cdg
Kyphosis, Hypotonia, Scoliosis ORPHA:79327
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Sacral dimple, Lumbar hyperlordosis, Axial hypotonia, Infantile axial hypotonia, Increased interv... ORPHA:508533
Retinitis Pigmentosa-Intellectual Disability-Deafness-Hypogonadism Syndrome
Kyphosis, Hyperinsulinemia, Hyperlordosis ORPHA:3085
Srd5A3-Cdg
Kyphosis, Abnormal sacrum morphology, Optic atrophy, Ataxia ORPHA:324737
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Hypotonia, Facial diplegia, Dystonia, Spasticity OMIM:612073
Thyrocerebroretinal Syndrome
Skeletal muscle atrophy OMIM:274240
Hypomagnesemia, Seizures, And Impaired Intellectual Development 2
Hyperactivity, Self-biting OMIM:618314
Congenitally Uncorrected Transposition Of The Great Arteries
Hypoxemia, Cyanosis, Right ventricular hypertrophy ORPHA:860
Neurodegeneration, Childhood-Onset, With Multisystem Involvement Due To Mitochondrial Dysfunction
Skeletal muscle atrophy, Spasticity, Optic atrophy, Hypotonia OMIM:620089
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Skeletal muscle atrophy, Axial hypotonia, Short neck, Hypotonia, Hypertonia, Neonatal hypotonia, ... OMIM:615802
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Dystonia, Optic atrophy, Scoliosis, Progressive spas... ORPHA:496641
Carnitine Palmitoyl Transferase 1A Deficiency
Skeletal muscle atrophy, Hypotonia ORPHA:156
Trisomy 20P
Inguinal hernia, Incoordination, Camptodactyly of finger, Spina bifida, Short neck, Kyphosis, Abn... ORPHA:261318
Trisomy 17P
Skeletal muscle atrophy, Short neck, Flexion contracture, Hypotonia, Macroglossia, Hypertonia, Sc... ORPHA:261290
Pelger-Huet Anomaly
Kyphosis, Lower limb hypertonia, Umbilical hernia, Foot dorsiflexor weakness OMIM:169400
Deafness, X-Linked 5, With Peripheral Neuropathy
Skeletal muscle atrophy OMIM:300614
Jaberi-Elahi Syndrome
Appendicular spasticity, Tremor, Kyphosis, Optic atrophy, Dysmetria, Gait ataxia, Choreoathetosis... OMIM:617988
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Facial palsy, Aplasia of the pectoralis major muscle, Hypotonia, Myopath... ORPHA:1358
Perlman Syndrome
Hypoplasia of the abdominal wall musculature, Congenital diaphragmatic hernia OMIM:267000
Sandhoff Disease
Skeletal muscle atrophy, Orthostatic hypotension, Hypotonia, Macroglossia, Death in childhood, Sp... OMIM:268800
Leukodystrophy, Hypomyelinating, 10
Skeletal muscle atrophy, Spasticity, Axial hypotonia OMIM:616420
Cryptogenic Organizing Pneumonia
Hypoxemia, Cyanosis ORPHA:1302
Thyrotoxic Periodic Paralysis, Susceptibility To, 2
Tremor, Periodic paralysis OMIM:613239
Pseudohypoaldosteronism, Type Iia
Periodic hyperkalemic paralysis OMIM:145260
Native American Myopathy
Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Hypotonia, Abnormal curvature... ORPHA:168572
Congenital Disorder Of Glycosylation, Type Iie
Skeletal muscle atrophy, Neurogenic bladder, Death in infancy, Short neck, Jaundice, Hypotonia, E... OMIM:608779
C Syndrome
Omphalocele, Death in infancy, Sacral dimple, Congenital diaphragmatic hernia, Short neck, Aplasi... ORPHA:1308
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Hypotonia OMIM:615433
Mucopolysaccharidosis, Type Ivb
Inguinal hernia, Ataxia, Ovoid vertebral bodies, Hyperlordosis, Grayish enamel, Hypoplasia of the... OMIM:253010
Fountain Syndrome
Cutis marmorata, Spina bifida, Kyphosis, Erythema, Abnormal form of the vertebral bodies, Scolios... ORPHA:3219
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thoracic kyphoscoliosis, Skeletal muscle atrophy, Flexion contracture, Hypotonia, Spasticity, Lim... ORPHA:481152
Asbestos Intoxication
Hypoxemia, Cyanosis, Oxygen desaturation on exertion ORPHA:2302
Deafness, Congenital, With Vitiligo And Achalasia
Skeletal muscle atrophy OMIM:221350
Pigmented Nodular Adrenocortical Disease, Primary, 1
Increased urinary cortisol level, Decreased circulating dehydroepiandrosterone concentration, Par... OMIM:610489
Carnitine-Acylcarnitine Translocase Deficiency
Rhabdomyolysis, Cyanosis ORPHA:159
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Hypertonia, Hypotonia OMIM:614153
Lateral Meningocele Syndrome
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Abnormal form of the vertebral bodies, Dural ecta... ORPHA:2789
Phosphoenolpyruvate Carboxykinase Deficiency, Cytosolic
Cyanosis, Optic atrophy OMIM:261680
Coffin-Lowry Syndrome
Skeletal muscle atrophy, Death in early adulthood, Kyphosis, Optic atrophy, Hypotonia, Abnormal f... ORPHA:192
Adenylosuccinase Deficiency
Skeletal muscle atrophy, Hypotonia, Opisthotonus, Generalized hypotonia, Spasticity OMIM:103050
Developmental And Epileptic Encephalopathy 51
Skeletal muscle atrophy, Hypotonia, Dystonia OMIM:617339
Achondroplasia
Lumbar hyperlordosis, Kyphosis, Spinal canal stenosis, Hypoxemia, Infantile muscular hypotonia, T... ORPHA:15
Myotonia, Potassium-Aggravated
Skeletal muscle hypertrophy, Skeletal muscle atrophy OMIM:608390
Encephalopathy, Acute, Infection-Induced, Susceptibility To, 9
Death in infancy, Cyanosis, Hypotonia, Hypertonia, Generalized hypotonia, Death in childhood, Spa... OMIM:618426
Surfactant Metabolism Dysfunction, Pulmonary, 1
Neonatal death, Death in infancy, Cyanosis OMIM:265120
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Facial palsy, Rigidity, Ragged-red muscle fibers, Rhabdomyolysis, Limb m... OMIM:157640
Focal Dermal Hypoplasia
Omphalocele, Inguinal hernia, Diastasis recti, Congenital diaphragmatic hernia, Hiatus hernia, Op... OMIM:305600
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy ORPHA:1933
Ruvalcaba Syndrome
Kyphosis, Inguinal hernia, Scoliosis OMIM:180870
Cleft Larynx, Posterior
Cyanosis OMIM:215800
Melorheostosis
Skeletal muscle atrophy ORPHA:2485
Spondyloepiphyseal Dysplasia Congenita
Back pain, Abnormally ossified vertebrae, Lumbar hyperlordosis, Short neck, Spinal cord compressi... ORPHA:94068
Mitochondrial Complex I Deficiency, Nuclear Type 37
Skeletal muscle atrophy, Hypertonia, Hypotonia, Opisthotonus OMIM:619272
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Spasticity, Spastic paraplegia, Foot dorsiflexor weakness OMIM:616586
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Hypotonia, Generalized hypotonia, Scoliosis, Acrocyanosis OMIM:223900
X-Linked Intellectual Disability, Seemanova Type
Skeletal muscle atrophy, Hypoplasia of the musculature, Progressive spasticity ORPHA:85323
Ruijs-Aalfs Syndrome
Premature graying of hair, Thoracic kyphoscoliosis, Elbow flexion contracture, Skeletal muscle at... OMIM:616200
Non-Functioning Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:94080
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome
Loss of subcutaneous adipose tissue in limbs, Lipodystrophy, Kyphosis, Scoliosis, Joint contracture OMIM:615381
Subaortic Stenosis-Short Stature Syndrome
Kyphosis, Inguinal hernia, Scoliosis, Short neck ORPHA:3191
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Skeletal muscle atrophy, Lower limb spasticity, Optic atrophy, Hypotonia, Upper limb spasticity, ... OMIM:617193
Autosomal Recessive Spastic Paraplegia Type 9B
Skeletal muscle atrophy, Spasticity, Spastic gait, Kyphoscoliosis ORPHA:447760
Coffin-Siris Syndrome 1
Sacral dimple, Inguinal hernia, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Scoliosis... OMIM:135900
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies
Exaggerated startle response, Rigidity, Kyphosis, Babinski sign, Optic atrophy, Abnormal pyramida... OMIM:617527
Restrictive Dermopathy 2
Cyanosis OMIM:619793
Hurler-Scheie Syndrome
Inguinal hernia, Camptodactyly of finger, Thenar muscle atrophy, Kyphosis, Contracture of the dis... OMIM:607015
Marfanoid-Progeroid-Lipodystrophy Syndrome
Reduced subcutaneous adipose tissue, Scapular winging, Progeroid facial appearance, Kyphosis, Hyp... OMIM:616914
Thanatophoric Dysplasia
Abnormal sacroiliac joint morphology, Platyspondyly, Kyphosis, Hypotonia ORPHA:2655
Mucopolysaccharidosis, Type Ii
Papilledema, Inguinal hernia, Short neck, Kyphosis, Flexion contracture, Macroglossia, Cervical c... OMIM:309900
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome
Cyanosis, Generalized hypotonia ORPHA:488627
Sepsis In Premature Infants
Cyanosis, Jaundice, Neonatal hypotonia, Petechiae, Purpura ORPHA:90051
Alexander Disease
Ataxia, Facial palsy, Clonus, Hyperlordosis, Short neck, Kyphosis, Tremor, Chorea, Abnormal pyram... ORPHA:58
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Skeletal muscle atrophy, Limb-girdle muscle weakness, Premature graying of hair, Myopathy, Limb m... OMIM:112250
Anaplastic Thyroid Carcinoma
Vocal cord paralysis, Abnormal skeletal muscle morphology ORPHA:142
Pontocerebellar Hypoplasia, Type 7
Skeletal muscle atrophy, Spastic paraplegia, Optic atrophy, Hypotonia, Opisthotonus, Hypertonia, ... OMIM:614969
3P25.3 Microdeletion Syndrome
Skeletal muscle atrophy, Sacral dimple, Hypotonia, Knee flexion contracture, Scoliosis ORPHA:435638
Rift Valley Fever
Back pain, Miscarriage, Paralysis, Paraparesis, Hemiparesis, Decerebrate rigidity ORPHA:319251
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Sclerotic vertebral body, Ataxia, Rigidity, Kyphosis, Optic atrophy, Spastic tetraplegia, Platysp... OMIM:618476
Glycogen Storage Disease Due To Muscle Glycogen Phosphorylase Deficiency
Increased muscle glycogen content, Skeletal muscle atrophy, Rhabdomyolysis, Glycogen accumulation... ORPHA:368
Chronic Pneumonitis Of Infancy
Hypoxemia, Cyanosis ORPHA:91359
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal muscle fibers, Ragged-red... OMIM:607459
Glossopharyngeal Neuralgia
Abnormal glossopharyngeal nerve morphology, Cranial nerve compression, Abnormality of the cervica... ORPHA:221098
Linear Skin Defects With Multiple Congenital Anomalies 1
Congenital diaphragmatic hernia OMIM:309801
Distal Triplication 15Q
Kyphosis, Flexion contracture, Hypotonia, Syringomyelia, Scoliosis, Camptodactyly ORPHA:314588
Urban-Rogers-Meyer Syndrome
Kyphosis, Flexion contracture of toe, Camptodactyly of finger, Short neck ORPHA:3409
Acute Interstitial Pneumonia
Hypoxemia, Cyanosis ORPHA:79126
Pigmented Nodular Adrenocortical Disease, Primary, 2
Paradoxical increased cortisol secretion on dexamethasone suppression test, Kyphosis, Decreased c... OMIM:610475
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Ataxia, Paralysis, Astrocytosis, Hypertonia, Gliosis, Myoclonus, Scoliosis, Tetraparesis OMIM:203700
Idiopathic Juvenile Osteoporosis
Kyphosis, Vertebral compression fracture ORPHA:85193
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Skeletal muscle atrophy, Hypotonia ORPHA:127
Cardiospondylocarpofacial Syndrome
Fused cervical vertebrae, Congenital diaphragmatic hernia, Herniation of intervertebral nuclei, S... OMIM:157800
Meacham Syndrome
Congenital diaphragmatic hernia ORPHA:3097
Distal 16P11.2 Microdeletion Syndrome
Neonatal hypotonia, Kyphosis, Aganglionic megacolon ORPHA:261222
Pseudoachondroplasia
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Scoliosis, Cer... OMIM:177170
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypo... ORPHA:2215
Choreoacanthocytosis
Skeletal muscle atrophy, Limb muscle weakness, Dystonia OMIM:200150
Desbuquois Dysplasia 1
Hyperlordosis, Short neck, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Generalized hypotonia OMIM:251450
Proteasome-Associated Autoinflammatory Syndrome 4
Skeletal muscle atrophy, Myositis, Erythema, Flexion contracture OMIM:619183
Renpenning Syndrome
Skeletal muscle atrophy ORPHA:3242
Mucopolysaccharidosis, Type Vii
Anterior beaking of lower thoracic vertebrae, Diastasis recti, Short neck, Hypoplasia of the odon... OMIM:253220
Inhalational Botulism
Paralysis ORPHA:254504
Andersen-Tawil Syndrome
Periodic hyperkalemic paralysis, Periodic hypokalemic paresis, Scoliosis, Periodic paralysis ORPHA:37553
Congenital Disorder Of Glycosylation, Type Il
Kyphosis, Generalized hypotonia, Short neck OMIM:608776
Andersen Cardiodysrhythmic Periodic Paralysis
Scapular winging, Periodic paralysis, Scoliosis, Enamel hypoplasia, Periodic hypokalemic paresis OMIM:170390
Rhizomelic Syndrome, Urbach Type
Kyphosis, Abnormal form of the vertebral bodies, Short neck ORPHA:3098
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome
Kyphosis ORPHA:77300
3C Syndrome
Death in infancy, Inguinal hernia, Short neck, Kyphosis, Optic atrophy, Hemivertebrae, Scoliosis ORPHA:7
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Grayish enamel, Spinal ca... ORPHA:582
Shashi-Pena Syndrome
Kyphosis, Hypotonia, Scoliosis, Cervical C2/C3 vertebral fusion, Limb hypertonia OMIM:617190
Smith-Mccort Dysplasia 1
Short neck, Hypoplasia of the odontoid process, Kyphosis, Atlantoaxial instability, Platyspondyly... OMIM:607326
Renal Tubular Acidosis Iii
Periodic paralysis OMIM:267200
Familial Dysautonomia
Orthostatic hypotension, Optic atrophy, Hypotonia, Scoliosis, Acrocyanosis ORPHA:1764
Thanatophoric Dysplasia Type 2
Kyphosis, Platyspondyly, Hypotonia ORPHA:93274
Autosomal Recessive Spastic Paraplegia Type 20
Skeletal muscle atrophy, Upper limb muscle weakness, Spastic dysarthria, Distal amyotrophy, Gener... ORPHA:101000
Oxoglutaric Aciduria
Skeletal muscle atrophy, Hypertonia ORPHA:31
Intellectual Developmental Disorder, X-Linked, Syndromic, Christianson Type
Skeletal muscle atrophy, Flexion contracture, Hypotonia, Generalized hypotonia OMIM:300243
Mucopolysaccharidosis Type 6
Ovoid vertebral bodies, Short neck, Kyphosis, Macroglossia, Hernia ORPHA:583
Tarp Syndrome
Optic atrophy, Cyanosis, Generalized hypotonia, Scoliosis ORPHA:2886
Surfactant Metabolism Dysfunction, Pulmonary, 3
Hypoxemia, Death in infancy, Cyanosis, Neonatal death OMIM:610921
Heart Defects, Congenital, And Other Congenital Anomalies
Umbilical hernia, Inguinal hernia, Aplasia of the left hemidiaphragm, Congenital diaphragmatic he... OMIM:600001
Gitelman Syndrome
Rhabdomyolysis, Ataxia, Chondrocalcinosis, Paralysis OMIM:263800
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2
Skeletal muscle atrophy, Kyphoscoliosis, Atlantoaxial instability, Hypotonia, Myopathy, Type 1 mu... OMIM:614557
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Parkinsonism, Astrocytosis, Abnormality of extrapyramidal... ORPHA:100070
Porphyria, Acute Intermittent
Respiratory paralysis, Paralysis OMIM:176000
Trisomy 13
Kyphosis, Hernia, Optic atrophy, Scoliosis ORPHA:3378
Spastic Paraplegia-Neuropathy-Poikiloderma Syndrome
Distal amyotrophy, Spastic gait, Progressive spastic paraplegia ORPHA:2821
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)
Skeletal muscle atrophy, Hypotonia, Type 2 muscle fiber predominance, Scoliosis, Dystonia OMIM:615471
Atrial Standstill
Skeletal muscle atrophy, Flexion contracture, Left ventricular noncompaction, Muscular dystrophy ORPHA:1344
Beckwith-Wiedemann Syndrome
Omphalocele, Inguinal hernia, Diastasis recti, Rhabdomyosarcoma, Congenital diaphragmatic hernia,... ORPHA:116
Hypotonia, Hypoventilation, Impaired Intellectual Development, Dysautonomia, Epilepsy, And Eye Abnormalities
Hip contracture, Kyphosis, Elbow flexion contracture, Optic atrophy, Generalized hypotonia, Scoli... OMIM:618493
Diaphragmatic Hernia 4, With Cardiovascular Defects
Coronal cleft vertebrae, Diaphragmatic eventration, Aplasia of the left hemidiaphragm, Optic nerv... OMIM:620025
Clark-Baraitser syndrome
Kyphosis, Scoliosis OMIM:300602
Difference Of Sex Development-Intellectual Disability Syndrome
Kyphosis, Spina bifida occulta, Short neck ORPHA:2983
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Leptodactylic Type
Kyphoscoliosis, Kyphosis, Elbow flexion contracture, Abnormal curvature of the vertebral column, ... ORPHA:93360
Laryngotracheoesophageal Cleft
Cyanosis ORPHA:2004
19P13.12 Microdeletion Syndrome
Short neck, Kyphosis, Hypotonia, Scoliosis, Arthrogryposis multiplex congenita ORPHA:254346
Weismann-Netter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:3344
Lethal Congenital Contracture Syndrome 2
Skeletal muscle atrophy, Arthrogryposis multiplex congenita OMIM:607598
Microphthalmia With Linear Skin Defects Syndrome
Sacral dimple, Abnormal dental enamel morphology, Congenital diaphragmatic hernia ORPHA:2556
Hypermethioninemia Due To Adenosine Kinase Deficiency
Skeletal muscle atrophy, Hypotonia OMIM:614300
Structural Heart Defects And Renal Anomalies Syndrome
Neonatal hypotonia, Death in infancy, Cyanosis OMIM:617478
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay
Congenital diaphragmatic hernia OMIM:617641
Plaa-Associated Neurodevelopmental Disorder
Exaggerated startle response, Rigidity, Kyphosis, Optic atrophy, Contractures of the large joints... ORPHA:521426
Pseudoaminopterin Syndrome
Posterolateral diaphragmatic hernia, Inguinal hernia, Sacrococcygeal pilonidal abnormality ORPHA:221120
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Kyphosis, Scapular winging, Hypotonia, Scoliosis OMIM:617061
3M Syndrome
Scapular winging, Abnormal dental enamel morphology, Hyperlordosis, Short neck, Increased vertebr... ORPHA:2616
Arthrogryposis And Ectodermal Dysplasia
Skeletal muscle atrophy, Kyphoscoliosis, Ectodermal dysplasia, Camptodactyly, Arthrogryposis mult... OMIM:601701
Camurati-Engelmann Disease
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Cranial nerve compression, Scoliosi... OMIM:131300
Frontometaphyseal Dysplasia 1
Skeletal muscle atrophy, Scapular winging, Interphalangeal joint contracture of finger, Hypoplasi... OMIM:305620
7Q31 Microdeletion Syndrome
Skeletal muscle atrophy, Torticollis, Axial hypotonia, Scoliosis ORPHA:251061
Mosaic Trisomy 20
Vertebral fusion, Kyphosis, Abnormal spinal cord morphology, Spinal canal stenosis, Hypotonia, Fu... ORPHA:1724
Cutis Laxa, Autosomal Recessive, Type Ib
Inguinal hernia, Congenital diaphragmatic hernia OMIM:614437
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:3121
Cushing Disease
Plethora, Increased urinary cortisol level, Purpura, Dorsocervical fat pad, Paradoxical increased... ORPHA:96253
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Skeletal muscle atrophy, Axial hypotonia, Limb joint contracture, Flexion contracture, Hypotonia,... OMIM:301072
Walker-Warburg Syndrome
Skeletal muscle atrophy, Optic atrophy, Hypotonia, Muscular dystrophy, Aplasia/Hypoplasia involvi... ORPHA:899
Encephalocraniocutaneous Lipomatosis
Lipodystrophy, Paralysis, Rigidity, Tetraplegia, Hemiparesis, Multiple lipomas, Hypertonia, Hemip... ORPHA:2396
Isolated Right Ventricular Hypoplasia
Hypoxemia, Cyanosis ORPHA:439
Tay-Sachs Disease
Skeletal muscle atrophy, Dystonia, Lower limb muscle weakness, Quadriceps muscle atrophy, Optic a... ORPHA:845
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Cutis marmorata, Extrapyramidal muscular rigidity, Axial h... ORPHA:51
Ichthyosis, Congenital, Autosomal Recessive 2
Paralysis OMIM:242100
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Ataxia, Thoracolumbar scoliosis, Hyperlordosis, Kyphosis, Scoliosis, Spasticity OMIM:618443
Fryns Syndrome
Omphalocele, Aganglionic megacolon, Short neck, Aplasia of the left hemidiaphragm, Stillbirth, Ca... OMIM:229850
Distal Deletion 15Q
Congenital diaphragmatic hernia ORPHA:1596
Intellectual Disability-Polydactyly-Uncombable Hair Syndrome
Kyphosis, Hernia of the abdominal wall, Short neck ORPHA:3082
Hyperimmunoglobulinemia D With Periodic Fever
Urticaria, Erythema, Acrocyanosis, Purpura ORPHA:343
Gastrointestinal Defects And Immunodeficiency Syndrome 2
Ataxia, Head titubation, Kyphosis, Optic atrophy, Dysmetria, Knee flexion contracture, Intention ... OMIM:619708
Sting-Associated Vasculopathy, Infantile-Onset
Skeletal muscle atrophy, Myositis, Cutis marmorata, Erythema, Livedo reticularis, Telangiectasia OMIM:615934
Eosinophilic Granulomatosis With Polyangiitis
Myositis, Cutis marmorata, Urticaria, Acrocyanosis, Purpura ORPHA:183
Thanatophoric Dysplasia Type 1
Abnormal sacroiliac joint morphology, Kyphosis, Hypotonia, Excessive wrinkled skin, Platyspondyly ORPHA:1860
Postpoliomyelitis Syndrome
Skeletal muscle atrophy ORPHA:2942
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Camptodactyly of finger, Facial palsy, Optic nerve hypoplasia, Kyphosis, O... ORPHA:261349
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Death in infancy, Abn... ORPHA:800
Micro Syndrome
Kyphosis, Optic atrophy, Scoliosis, Intrauterine growth retardation, Spasticity ORPHA:2510
Simpson-Golabi-Behmel Syndrome, Type 1
Inguinal hernia, Facial hypotonia, Diastasis recti, Congenital diaphragmatic hernia, Macroglossia... OMIM:312870
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency
Skeletal muscle atrophy, Hypotonia, Generalized hypotonia, Opisthotonus OMIM:210210
Pulmonary Alveolar Proteinosis, Acquired
Hypoxemia, Cyanosis OMIM:610910
Refsum Disease
Skeletal muscle atrophy, Hypotonia ORPHA:773
Congenital Tricuspid Valve Dysplasia
Hypoxemia, Cyanosis, Right ventricular hypertrophy ORPHA:555874
Unilateral Polymicrogyria
Cyanosis, Axial hypotonia, Spastic tetraplegia, Appendicular hypotonia, Giant somatosensory evoke... ORPHA:268943
Esophageal Atresia
Cyanosis, Hypotonia, Hypertonia, Scoliosis, Abnormal vertebral morphology ORPHA:1199
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Hyperlordosis, Short neck, Kyphosis, Macroglossia, Scoliosis ORPHA:1798
Tbck-Related Intellectual Disability Syndrome
Skeletal muscle atrophy, Neurogenic bladder, Severe muscular hypotonia, Diastasis recti, Short ne... ORPHA:488632
Spinocerebellar Ataxia Type 18
Skeletal muscle atrophy ORPHA:98771
Acquired Purpura Fulminans
Acrocyanosis, Macular purpura ORPHA:49566
Stickler Syndrome, Type I
Kyphosis, Platyspondyly, Morbus Scheuermann, Scoliosis, Beaking of vertebral bodies, Spondylolist... OMIM:108300
Weaver Syndrome
Inguinal hernia, Diastasis recti, Kyphosis, Slurred speech, Poor fine motor coordination, Hyperto... OMIM:277590
Trisomy 9P
Kyphosis, Sacral dimple, Scoliosis, Short neck ORPHA:236
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked
Kyphoscoliosis, Kyphosis, Hemivertebrae, Hypotonia, Macroglossia, Scoliosis, Infantile muscular h... OMIM:301040
Becker Muscular Dystrophy
Skeletal muscle atrophy ORPHA:98895
Neu-Laxova Syndrome
Skeletal muscle atrophy, Spina bifida, Flexion contracture, Opisthotonus, Muscular dystrophy, Sco... ORPHA:2671
Kyphoscoliotic Ehlers-Danlos Syndrome
Skeletal muscle atrophy, Congenital kyphoscoliosis, Poor wound healing, Kyphoscoliosis, Atlantoax... ORPHA:536545
Bannayan-Riley-Ruvalcaba Syndrome
Skeletal muscle atrophy, Cutis marmorata, Hypotonia, Telangiectasia, Myopathy, Scoliosis, Subcuta... ORPHA:109
Hurler Syndrome
Inguinal hernia, Short neck, Hypoplasia of the odontoid process, Kyphosis, Flexion contracture, M... OMIM:607014
Noonan Syndrome 14
Scapular winging, Short neck, Kyphosis, Hypotonia, Bruising susceptibility OMIM:619745
X-Linked Intellectual Disability, Cabezas Type
Inguinal hernia, Camptodactyly of finger, Short neck, Tremor, Kyphosis, Scoliosis ORPHA:85293
Witteveen-Kolk Syndrome
Inguinal hernia, Poor motor coordination, Congenital diaphragmatic hernia, Contracture of the dis... OMIM:613406
15Q14 Microdeletion Syndrome
Kyphosis, Inguinal hernia, Scoliosis ORPHA:261190
Moebius Syndrome
Skeletal muscle atrophy, Death in infancy, Facial palsy, Aplasia of the pectoralis major muscle, ... ORPHA:570
Werner Syndrome
Skeletal muscle atrophy, Telangiectasia of the skin, Prematurely aged appearance, Miscarriage, Pr... ORPHA:902
Tetraamelia Syndrome 1
Congenital diaphragmatic hernia OMIM:273395
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy ORPHA:1876
Pancreatic Hypoplasia-Diabetes-Congenital Heart Disease Syndrome
Umbilical hernia, Hernia, Congenital diaphragmatic hernia ORPHA:2255
Congenital Disorder Of Glycosylation, Type Ia
Death in infancy, Ataxia, Tremor, Kyphosis, Abnormal subcutaneous fat tissue distribution, Flexio... OMIM:212065
Double Outlet Right Ventricle
Cyanosis ORPHA:3426
Meckel Syndrome 14
Cyanosis, Short neck OMIM:619879
Ethylene Glycol Poisoning
Cyanosis, Facial palsy ORPHA:31826
Cornelia De Lange Syndrome
Hypertonia, Congenital diaphragmatic hernia, Short neck ORPHA:199
Hereditary Bullous Dystrophy, Macular Type
Acrocyanosis ORPHA:1867
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4
Kyphosis, Hypotonia, Camptodactyly of finger, Scoliosis OMIM:619951
Recon Progeroid Syndrome
Skeletal muscle atrophy, Cutaneous photosensitivity, Livedo reticularis, Progeroid facial appearance OMIM:620370
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Paralysis, Oculomotor apraxia, Spastic paraplegia, Limb ataxia, Hypertonia, Scoliosi... ORPHA:2072
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion
Kyphosis, Flexion contracture, Hypotonia, Scoliosis, Neonatal hypotonia ORPHA:500055
Bardet-Biedl Syndrome
Skeletal muscle atrophy, Short neck ORPHA:110
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Kyphosis, Hypotonia, Scoliosis ORPHA:404440
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall muscul... ORPHA:2990
Osteogenesis Imperfecta, Type Iii
Kyphosis, Biconcave vertebral bodies, Dentinogenesis imperfecta, Scoliosis OMIM:259420
Glycogen Storage Disease Of Heart, Lethal Congenital
Macroglossia, Cyanosis, Myopathy OMIM:261740
Cole-Carpenter Syndrome
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies, Intrauterine growth retardation ORPHA:2050
Rhizomelic Skeletal Dysplasia With Or Without Pelger-Huet Anomaly
Ovoid vertebral bodies, Thoracolumbar scoliosis, Hyperlordosis, Thoracic platyspondyly, Kyphosis,... OMIM:618019
Microphthalmia, Lenz Type
Camptodactyly of finger, Hyperlordosis, Kyphosis, Optic disc coloboma, Scoliosis ORPHA:568
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Sacral dimple, Ataxia, Short neck, Tremor, Kyphosis, Prominent protruding coccyx, Spastic diplegi... OMIM:300966
Harrod Syndrome
Kyphosis, Scoliosis, Intrauterine growth retardation ORPHA:2115
Dyggve-Melchior-Clausen Disease
Lumbar hyperlordosis, Short neck, Hypoplasia of the odontoid process, Kyphosis, Platyspondyly, Th... OMIM:223800
Autoimmune Pulmonary Alveolar Proteinosis
Hypoxemia, Cyanosis ORPHA:747
Progressive Non-Infectious Anterior Vertebral Fusion
Abnormal intervertebral disk morphology, Spinal rigidity, Kyphosis, Hemivertebrae, Abnormality of... ORPHA:2062
Achondroplasia, Severe, With Developmental Delay And Acanthosis Nigricans
Lumbar hyperlordosis, Kyphosis, Platyspondyly, Neonatal death, Palmoplantar cutis laxa OMIM:616482
Myasthenia Gravis
Myositis, Acrocyanosis ORPHA:589
Donohue Syndrome
Skeletal muscle atrophy, Hyperinsulinemia OMIM:246200
Choanal Atresia
Cyanosis ORPHA:137914
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Kyphosis, Scoliosis, Skeletal muscle atrophy ORPHA:1969
Glycogen Storage Disease Due To Liver And Muscle Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Limb-girdle muscle weakness, Rhabdomyolysis, Hypotonia, Pelvic girdle mu... ORPHA:79240
Combined Oxidative Phosphorylation Deficiency 55
Type 2 muscle fiber predominance, Skeletal muscle atrophy, Myopathy, Hypotonia OMIM:619743
Pulmonary Alveolar Microlithiasis
Fatigable weakness, Cyanosis, Oxygen desaturation on exertion, Hypoxemia ORPHA:60025
Mitochondrial Complex I Deficiency, Nuclear Type 32
Skeletal muscle atrophy, Generalized hypotonia, Death in childhood OMIM:618252
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome
Kyphosis, Vertebral segmentation defect, Scoliosis, Intrauterine growth retardation ORPHA:1005
Prader-Willi Syndrome
Decreased muscle mass, Kyphosis, Hyperinsulinemia, Scoliosis, Generalized hypotonia, Neonatal hyp... OMIM:176270
Pitt-Hopkins Syndrome
Aganglionic megacolon, Short neck, Hypotonia, Scoliosis, Acrocyanosis ORPHA:2896
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Kyphosis, Bilateral camptodactyly, Hypotonia, Scoliosis OMIM:619557
Rett Syndrome, Congenital Variant
Kyphosis, Chorea, Athetosis, Scoliosis, Apraxia, Spasticity OMIM:613454
Complete Atrioventricular Septal Defect
Cyanosis, Right ventricular hypertrophy ORPHA:1329
Pycnodysostosis
Hyperlordosis, Kyphosis, Spondylolysis, Scoliosis, Intrauterine growth retardation, Upper motor n... ORPHA:763
Pulmonary Arteriovenous Malformation
Hypoxemia, Cyanosis, Telangiectasia ORPHA:2038
Pallister-Killian Syndrome
Omphalocele, Sacral dimple, Tethered cord, Inguinal hernia, Kyphoscoliosis, Short neck, Congenita... OMIM:601803
Kallmann Syndrome-Heart Disease Syndrome
Cyanosis ORPHA:2326
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Hypotonia, Abnormal form of the verte... ORPHA:2461
Sézary Syndrome
Skeletal muscle atrophy ORPHA:3162
Cole-Carpenter Syndrome 2
Kyphosis, Platyspondyly, Hypotonia OMIM:616294
Marfanoid Habitus With Situs Inversus
Kyphosis, Scoliosis OMIM:609008
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome
Small hypothenar eminence, Lumbar hyperlordosis, Thenar muscle atrophy, Kyphosis, Increased circu... ORPHA:2232
Basel-Vanagaite-Smirin-Yosef Syndrome
Kyphosis, Inguinal hernia, Scoliosis, Spasticity OMIM:616449
Marshall-Smith Syndrome
Thoracic scoliosis, Axial hypotonia, Optic nerve hypoplasia, Kyphoscoliosis, Hypoplasia of the od... OMIM:602535
Cono-Spondylar Dysplasia
Kyphosis, Poor coordination, Scoliosis, Short neck ORPHA:420794
Familial Gestational Hyperthyroidism
Hyperactivity, Agitation ORPHA:99819
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy ORPHA:276198
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Kyphosis, Hypotrophy of the small hand muscles, Scoliosis, Gener... OMIM:610443
Poems Syndrome
Acrocyanosis, Papilledema, Sclerotic vertebral endplates ORPHA:2905
Camurati-Engelmann Disease
Skeletal muscle atrophy, Ataxia, Facial palsy, Hyperlordosis, Kyphosis, Abnormal subcutaneous fat... ORPHA:1328
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Aplasia of the right hemidiaphragm, Poor coordination, Limb tremor, Scolio... OMIM:619841
Cockayne Syndrome Type 3
Optic disc pallor, Skeletal muscle atrophy, Neurogenic bladder, Kyphosis, Flexion contracture, As... ORPHA:90324
Multiple System Atrophy 1, Susceptibility To
Rigidity, Skeletal muscle atrophy, Orthostatic hypotension, Abnormal autonomic nervous system phy... OMIM:146500
Koolen-De Vries Syndrome
Vertebral fusion, Kyphosis, Hypotonia, Vertebral segmentation defect, Scoliosis ORPHA:96169
Aspartylglucosaminuria
Kyphosis, Hypotonia, Spasticity, Angiokeratoma corporis diffusum, Macroglossia, Platyspondyly, Sp... OMIM:208400
Pulmonary Capillary Hemangiomatosis
Hypoxemia, Cyanosis ORPHA:199241
Cockayne Syndrome
Reduced subcutaneous adipose tissue, Optic disc pallor, Skeletal muscle atrophy, Neurogenic bladd... ORPHA:191
Alkaptonuria
Vertebral fusion, Low back pain, Kyphosis, Thickened Achilles tendon, Intervertebral disc degener... OMIM:203500
Sporadic Pheochromocytoma/Secreting Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:276621
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Dystonia, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis,... ORPHA:17
Cowden Syndrome 5
Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor OMIM:615108
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Dystonia, Optic atrophy, Spastic diplegia, ... ORPHA:506
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Hypoton... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Sacral dimple, Spina bifida, Hyperlordosis, Kyphosis, Optic atrophy, Hypoton... ORPHA:363958
2Q31.1 Microdeletion Syndrome
Camptodactyly of finger, Short neck, Kyphosis, Optic disc coloboma, Hypotonia, Vertebral segmenta... ORPHA:251014
Atrial Septal Defect, Ostium Primum Type
Left ventricular hypertrophy, Cyanosis ORPHA:99106
Criss-Cross Heart
Cyanosis ORPHA:1461
Megalocornea-Intellectual Disability Syndrome
Kyphosis, Hypotonia, Scoliosis ORPHA:2479
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Spina bifida occulta, Abnormal form of the vertebral bodies,... ORPHA:233
Orofaciodigital Syndrome Iii
Kyphosis, Myoclonus OMIM:258850
African Trypanosomiasis
Papilledema, Abnormal central motor function, Miscarriage, Involuntary movements, Paralysis, Trem... ORPHA:3385
Graft Versus Host Disease
Skeletal muscle atrophy, Jaundice, Dupuytren contracture, Myositis ORPHA:39812
Chromosome Xq26.3 Duplication Syndrome
Increased circulating insulin-like growth factor 1 concentration, Kyphosis, Elevated circulating ... OMIM:300942
Cowden Syndrome 6
Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor OMIM:615109
Surfactant Metabolism Dysfunction, Pulmonary, 2
Hypoxemia, Cyanosis OMIM:610913
Farber Disease
Skeletal muscle atrophy, Spasticity, Flexion contracture, Infantile muscular hypotonia ORPHA:333
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Cyanosis, Generalized hypotonia, Abnormal autonomic nervous system physiology, Scoliosis ORPHA:293987
Cardiac-Urogenital Syndrome
Congenital diaphragmatic hernia OMIM:618280
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hip contracture, Short neck, Kyphosis, Elbow flexion contracture, Hypotonia, Knee flexion contrac... OMIM:619194
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism
Kyphosis, Hypotonia OMIM:619244
Telangiectasia, Hereditary Hemorrhagic, Type 4
Conjunctival telangiectasia, Cyanosis, Lip telangiectasia, Tongue telangiectasia, Spinal arteriov... OMIM:610655
Telangiectasia, Hereditary Hemorrhagic, Type 1
Conjunctival telangiectasia, Cyanosis, Telangiectasia of the skin, Nail bed telangiectasia, Misca... OMIM:187300
Dermatomyositis
Telangiectasia of the skin, Erythema, Hypotonia, Acrocyanosis, Inflammatory myopathy, Cutaneous p... ORPHA:221
Pheochromocytoma/Paraganglioma Syndrome 3
Vocal cord paralysis OMIM:605373
Localized Scleroderma
Skeletal muscle atrophy, Erythema, Flexion contracture, Myopathy ORPHA:90289
Telangiectasia, Hereditary Hemorrhagic, Type 2
Conjunctival telangiectasia, Cyanosis, Nail bed telangiectasia, Fingerpad telangiectases, Lip tel... OMIM:600376
Absence Of The Pulmonary Artery
Cyanosis, Abnormal hemidiaphragm morphology, Hypocapnia ORPHA:980
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency
Skeletal muscle atrophy, Hypotonia, Increased sarcoplasmic glycogen ORPHA:264580
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Tremor, Kyphosis, Scoliosis, Gait ataxia ORPHA:476126
Magel2-Related Prader-Willi-Like Syndrome
Kyphosis, Flexion contracture, Scoliosis, Infantile muscular hypotonia, Neonatal hypotonia ORPHA:398069
Classic Homocystinuria
Kyphosis, Hemiplegia/hemiparesis, Optic atrophy, Hernia, Scoliosis ORPHA:394
Classical-Like Ehlers-Danlos Syndrome Type 2
Thoracic scoliosis, Sacral dimple, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent veins on trunk,... ORPHA:536532
Holt-Oram Syndrome
Kyphosis, Scoliosis ORPHA:392
Osteogenesis Imperfecta, Type Iv
Kyphosis, Dentinogenesis imperfecta, Biconcave flattened vertebrae, Scoliosis OMIM:166220
Histiocytoid Cardiomyopathy
Cyanosis, Optic atrophy ORPHA:137675
Pontocerebellar Hypoplasia Type 7
Skeletal muscle atrophy, Fatigable weakness of skeletal muscles, Optic atrophy, Hypotonia, Hypert... ORPHA:284339
16Q24.3 Microdeletion Syndrome
Kyphosis, Optic nerve hypoplasia, Scoliosis ORPHA:261250
Marfan Syndrome
Skeletal muscle atrophy, Kyphosis, Hypotonia, Dural ectasia, Scoliosis, Spondylolisthesis ORPHA:558
Spondyloperipheral Dysplasia
Ovoid vertebral bodies, Short neck, Kyphosis, Irregular vertebral endplates, Platyspondyly OMIM:271700
Pineoblastoma
Papilledema, Paralysis ORPHA:251909
Basel-Vanagaite-Smirin-Yosef Syndrome
Inguinal hernia, Kyphosis, Scoliosis, Spasticity, Contracture of the proximal interphalangeal joi... ORPHA:464738
Osteopetrosis, Autosomal Recessive 3
Periodic hypokalemic paresis, Optic nerve compression OMIM:259730
Cowden Syndrome 1
Kyphosis, Subcutaneous lipoma, Scoliosis, Intention tremor OMIM:158350
Cohen Syndrome
Kyphosis, Optic atrophy, Hypotonia, Scoliosis ORPHA:193
Mucolipidosis Type Ii
Hip contracture, Axial hypotonia, Diastasis recti, Kyphosis, Knee flexion contracture, Appendicul... ORPHA:576
Intellectual Developmental Disorder, X-Linked, Syndromic 34
Axial hypotonia, Kyphoscoliosis, Kyphosis, Hypotonia, Left ventricular noncompaction, Scoliosis, ... OMIM:300967
Hereditary Folate Malabsorption
Skeletal muscle atrophy ORPHA:90045
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Scoliosis OMIM:615895
Osteogenesis Imperfecta, Type Viii
Inguinal hernia, Kyphosis, Platyspondyly, Scoliosis, Vertebral compression fracture, Dentinogenes... OMIM:610915
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Skeletal muscle atrophy, Jaundice, Hypotonia, Prolonged neonatal jaundice, Dystonia OMIM:256810
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome
Hip contracture, Kyphosis, Flexion contracture, Abnormal form of the vertebral bodies, Irregular ... ORPHA:3042
Cerebrocostomandibular Syndrome
Kyphosis, Death in infancy, Spina bifida, Intrauterine growth retardation ORPHA:1393
Intellectual Developmental Disorder, Autosomal Dominant 57
Kyphosis, Contracture of the proximal interphalangeal joint of the 4th finger, Generalized hypoto... OMIM:618050
Monosomy 9Q22.3
Rhabdomyosarcoma, Short neck, Kyphosis, Hypotonia, Abnormality of the vertebral column ORPHA:77301
Steinert Myotonic Dystrophy
Skeletal muscle atrophy, Fatigable weakness of bulbar muscles, Abnormality of the tongue muscle, ... ORPHA:273
Gitelman Syndrome
Rhabdomyolysis, Chondrocalcinosis, Paralysis ORPHA:358
Cardiac Valvular Dysplasia 2
Central cyanosis OMIM:620067
Alstrom Syndrome
Kyphosis, Hyperinsulinemia, Scoliosis OMIM:203800
Pheochromocytoma/Paraganglioma Syndrome 1
Vocal cord paralysis OMIM:168000
Hereditary Pheochromocytoma-Paraganglioma
Tremor, Cranial nerve compression, Vocal cord paralysis ORPHA:29072
Hyperoxaluria, Primary, Type I
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic neuropathy OMIM:259900
Osteoporosis-Pseudoglioma Syndrome
Kyphoscoliosis, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Biconcave vertebral bodies, Verteb... OMIM:259770
Heterotaxy, Visceral, 7, Autosomal
Cyanosis OMIM:616749
X-Linked Intellectual Disability, Snyder Type
Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Kyphosis, Myoclonus, Camptodactyly ORPHA:3063
Spondyloarthropathy, Susceptibility To, 1
Back pain, Kyphosis, Sacroiliac arthritis, Enthesitis OMIM:106300
Schinzel-Giedion Syndrome
Sacrococcygeal teratoma, Inguinal hernia, Aganglionic megacolon, Kyphoscoliosis, Short neck, Voca... ORPHA:798
Spondyloenchondrodysplasia
Kyphosis, Platyspondyly, Chorea, Spasticity ORPHA:1855
Van Esch-O'Driscoll Syndrome
Sacral dimple, Unilateral vocal cord paralysis, Scoliosis, Intrauterine growth retardation, Spast... OMIM:301030
Classical Ehlers-Danlos Syndrome
Orthostatic hypotension, Prematurely aged appearance, Poor wound healing, Hypotonia, Scoliosis, E... ORPHA:287
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Neonatal hypotonia, Kyphosis, Scoliosis, Death in childhood OMIM:619005
Mgat2-Cdg
Kyphosis, Generalized hypotonia, Hypotonia, Scoliosis ORPHA:79329
Heterotaxy, Visceral, 1, X-Linked
Absence of the sacrum, Cyanosis, Block vertebrae OMIM:306955
Robinow Syndrome, Autosomal Dominant 3
Omphalocele, Sacral dimple, Short neck, Kyphosis, Scoliosis, Camptodactyly OMIM:616894
Coffin-Lowry Syndrome
Cutis marmorata, Kyphosis, Hypotonia, Lumbar kyphosis, Scoliosis, Acrocyanosis OMIM:303600
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Hemivertebrae, Contracture of the proximal interphalangeal joint of the 4th... OMIM:618223
Cockayne Syndrome A
Reduced subcutaneous adipose tissue, Hip contracture, Ataxia, Abnormal auditory evoked potentials... OMIM:216400
Autosomal Recessive Robinow Syndrome
Death in infancy, Sacral dimple, Inguinal hernia, Camptodactyly of finger, Short neck, Kyphosis, ... ORPHA:1507
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Ankle flexion contracture, Kyphosis, Scoliosis, Flexion contracture of finger,... ORPHA:464311
Cockayne Syndrome B
Reduced subcutaneous adipose tissue, Ataxia, Abnormal auditory evoked potentials, Decreased nerve... OMIM:133540
Frank-Ter Haar Syndrome
Anterior concavity of thoracic vertebrae, Kyphoscoliosis, Kyphosis, Hypotonia, Prominent coccyx, ... OMIM:249420
Shprintzen Omphalocele Syndrome
Lumbar hyperlordosis, Kyphosis, Hypotonia, Generalized hypotonia, Scoliosis OMIM:182210
Campomelic Dysplasia
Poorly ossified cervical vertebrae, Kyphosis, Scoliosis, Short neck ORPHA:140
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Flexion contracture, Optic atrophy, Spastic diplegia, Generalized hypoto... OMIM:309590
Pseudoxanthoma Elasticum, Forme Fruste
Kyphosis, Scoliosis OMIM:177850
Hajdu-Cheney Syndrome
Inguinal hernia, Short neck, Hypoplastic 5th lumbar vertebrae, Kyphosis, Syringomyelia, Scoliosis... ORPHA:955
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Skeletal muscle atrophy, Flexion contracture, Fragile skin ORPHA:89842
Paget Disease Of Bone 5, Juvenile-Onset
Kyphosis, Hypotonia OMIM:239000
Mend Syndrome
Sacral dimple, Abnormal auditory evoked potentials, Kyphosis, Generalized hypotonia, Limb hypertonia ORPHA:401973
Gaucher Disease Type 1
Kyphosis, Vertebral compression fracture, Bruising susceptibility ORPHA:77259
Atrial Septal Defect, Coronary Sinus Type
Cyanosis ORPHA:99104
Intellectual Developmental Disorder, Autosomal Dominant 54
Lower limb spasticity, Ataxia, Vocal cord paralysis, Hyperkinetic movements, Athetoid cerebral palsy OMIM:617799
Cardiofacioneurodevelopmental Syndrome
Kyphosis, Camptodactyly OMIM:619123
Primary Hyperoxaluria
Optic atrophy, Acrocyanosis, Cutis marmorata, Optic disc pallor ORPHA:416
Osteogenesis Imperfecta
Inguinal hernia, Ataxia, Cervical kyphosis, Abnormal dental enamel morphology, Kyphosis, Flexion ... ORPHA:666
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Multiple joint contractures, Kyphosis, Scoliosis, Abnormality of the cervical ... ORPHA:464306
Proteasome-Associated Autoinflammatory Syndrome 1
Skeletal muscle atrophy, Camptodactyly of finger, Progeroid facial appearance, Erythema, Flexion ... OMIM:256040
Stickler Syndrome
Skeletal muscle atrophy, Kyphosis, Spinal canal stenosis, Abnormal form of the vertebral bodies, ... ORPHA:828
Zttk Syndrome
Kyphosis, Flexion contracture, Hemivertebrae, Hypotonia, Optic atrophy, Scoliosis, Neonatal hypot... OMIM:617140
Distal Renal Tubular Acidosis
Paralysis ORPHA:18
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome
Lumbar hyperlordosis, Facial hypotonia, Kyphoscoliosis, Kyphosis, Hypotonia ORPHA:457359
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Lumbar hyperlordosis, Camptodactyly of finger, Kyphoscoliosis, Short neck, Kyphosis, Flexion cont... OMIM:143095
Lenz-Majewski Hyperostotic Dwarfism
Prematurely aged appearance, Facial palsy, Kyphosis, Hypotonia, Scoliosis ORPHA:2658
Hutchinson-Gilford Progeria Syndrome
Prominent superficial blood vessels, Cyanosis, Decreased serum leptin, Premature skin wrinkling, ... ORPHA:740
Atypical Werner Syndrome
Skeletal muscle atrophy, Prominent superficial veins, Prematurely aged appearance, Telangiectasia... ORPHA:79474
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Back pain, Torticollis, Isometric tremor, Ataxia, Clonus, Cerebral palsy, Head titubation, Kyphos... OMIM:619475
Congenital Tracheomalacia
Cyanosis ORPHA:95430
Atelis Syndrome 2
Kyphosis, Sacral dimple, Elevated circulating thyroid-stimulating hormone concentration, Hyperins... OMIM:620185
Aortic Arch Interruption
Left ventricular hypertrophy, Cyanosis ORPHA:2299
Ramon Syndrome
Optic disc pallor, Angiokeratoma, Kyphosis, Telangiectasia, Scoliosis OMIM:266270
Atrial Septal Defect, Ostium Secundum Type
Cyanosis ORPHA:99103
Wrinkly Skin Syndrome
Scapular winging, Progeroid facial appearance, Hypoplasia of the musculature, Kyphosis, Neonatal ... OMIM:278250
Nijmegen Breakage Syndrome
Skeletal muscle atrophy, Cutaneous photosensitivity, Rhabdomyosarcoma, Short neck ORPHA:647
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Kyphosis, Inguinal hernia OMIM:609944
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation
Kyphosis, Hypotonia, Scoliosis, Hyperlordosis OMIM:617011
Postinfectious Vasculitis
Palpable purpura, Cutis marmorata, Abnormality of the peripheral nervous system, Vasculitis in th... ORPHA:48435
Leprechaunism
Reduced subcutaneous adipose tissue, Skeletal muscle atrophy, Axial hypotonia, Hyperinsulinemia, ... ORPHA:508
Double Outlet Left Ventricle
Cyanosis ORPHA:3427
Wolf-Hirschhorn Syndrome
Vertebral fusion, Sacral dimple, Tethered cord, Decreased muscle mass, Kyphosis, Abnormal form of... OMIM:194190
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall musculature, Scolio... ORPHA:285
Pierson Syndrome
Skeletal muscle atrophy, Hypotonia, Death in childhood OMIM:609049
Cleidocranial Dysplasia 1
Kyphosis, Syringomyelia, Spondylolysis, Scoliosis, Spondylolisthesis OMIM:119600
Mend Syndrome
Sacral dimple, Axial hypotonia, Kyphosis, Hypotonia, Hypertonia OMIM:300960
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Sacral dimple, Inguinal hernia, Ataxia, Kyphosis, Hypertonia, Gliosis, Scoliosis ORPHA:268261
Lysinuric Protein Intolerance
Skeletal muscle atrophy, Hypotonia OMIM:222700
Familial Osteodysplasia, Anderson Type
Kyphosis, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2769
1P36 Deletion Syndrome
Camptodactyly of finger, Kyphosis, Optic atrophy, Spinal canal stenosis, Hypotonia, Telangiectasi... ORPHA:1606
Idiopathic Hypereosinophilic Syndrome
Skeletal muscle atrophy, Cutis marmorata, Angioedema, Urticaria, Vasculitis in the skin ORPHA:3260
Occipital Horn Syndrome
Inguinal hernia, Femoral hernia, Scarring, Hiatus hernia, Kyphosis, Atypical scarring of skin, Pl... ORPHA:198
Cowden Syndrome
Ataxia, Kyphosis, Macroglossia, Scoliosis, Lipoma ORPHA:201
Oculocerebrorenal Syndrome Of Lowe
Death in infancy, Inguinal hernia, Abnormal dental enamel morphology, Clonus, Kyphosis, Atypical ... ORPHA:534
Abnormal Origin Of Right Or Left Pulmonary Artery From The Aorta
Cyanosis ORPHA:99050
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia
Kyphosis, Scoliosis OMIM:619718
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Aganglionic megacolon, Camptodactyly of finger, Kyphosis, Erythema, Hypotonia, Urticaria, Platysp... ORPHA:2273
Truncus Arteriosus
Cyanosis, Right ventricular hypertrophy ORPHA:3384
Tyrosinemia, Type I
Periodic paralysis OMIM:276700
Occipital Horn Syndrome
Kyphosis, Orthostatic hypotension, Platyspondyly, Hiatus hernia OMIM:304150
Lowe Oculocerebrorenal Syndrome
Camptodactyly of finger, Kyphosis, Hypotonia, Platyspondyly, Scoliosis, Neonatal hypotonia, Joint... OMIM:309000
Cdags Syndrome
Kyphosis OMIM:603116
Williams Syndrome
Death in early adulthood, Sacral dimple, Inguinal hernia, Ataxia, Abnormal dental enamel morpholo... ORPHA:904
Congenital Tracheal Stenosis
Cyanosis ORPHA:141127
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Kyphosis, Hypotonia, Scoliosis OMIM:619482
Generalized Arterial Calcification Of Infancy
Fused cervical vertebrae, Cyanosis, Myocardial calcification ORPHA:51608
Lymphedema-Distichiasis Syndrome
Kyphosis, Cellulitis OMIM:153400
17Q11 Microdeletion Syndrome
Telangiectasia of the skin, Rhabdomyosarcoma, Kyphosis, Dural ectasia, Abnormality of the vertebr... ORPHA:97685
Leprosy
Skeletal muscle atrophy, Abnormality of the seventh cranial nerve, Abnormal autonomic nervous sys... ORPHA:548
Eisenmenger Syndrome
Hypoxemia, Cyanosis ORPHA:97214
Degcags Syndrome
Diaphragmatic eventration, Sacral dimple, Vocal cord paralysis, Hiatus hernia OMIM:619488
Cardiac Valvular Dysplasia 1
Cyanosis OMIM:212093
Igg4-Related Thyroid Disease
Vocal cord paralysis ORPHA:64744
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis ORPHA:91347
Immunodeficiency 31C
Skeletal muscle atrophy OMIM:614162
Cystinosis, Nephropathic
Skeletal muscle atrophy, Myopathy, Oral motor hypotonia OMIM:219800
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Kyphosis, Flexion contracture, Hypotonia, Knee flexion ... OMIM:259050
Acromegaly
Macroglossia, Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:963
Somatomammotropinoma
Macroglossia, Kyphosis, Cerebral palsy, Spinal canal stenosis ORPHA:314769
Hydrolethalus Syndrome 1
Omphalocele, Stillbirth, Agenesis of the diaphragm OMIM:236680
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Kyphosis, Abnormal dental enamel morphology ORPHA:85199
Congenitally Corrected Transposition Of The Great Arteries
Cyanosis ORPHA:216694
Sotos Syndrome
Sacrococcygeal teratoma, Hip contracture, Inguinal hernia, Aganglionic megacolon, Ankle flexion c... ORPHA:821
Proteus Syndrome
Decreased muscle mass, Kyphosis, Abnormal subcutaneous fat tissue distribution, Abnormal form of ... ORPHA:744
Neurofibromatosis Type 1
Kyphosis, Multiple lipomas, Ataxia, Scoliosis ORPHA:636
Williams-Beuren Syndrome
Inguinal hernia, Incoordination, Kyphoscoliosis, Flexion contracture, Vocal cord paralysis, Poor ... OMIM:194050
Turner Syndrome Due To Structural X Chromosome Anomalies
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99413
Mosaic Monosomy X
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99228
Monosomy X
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:99226
Turner Syndrome
High urinary gonadotropin level, Short neck, Kyphosis, Increased circulating gonadotropin level, ... ORPHA:881
Viss Syndrome
Prominent superficial blood vessels, Kyphosis, Hypotonia, Macroglossia, Scoliosis, Bruising susce... OMIM:619472
Goodpasture Syndrome
Cyanosis OMIM:233450
Feingold Syndrome 1
Vocal cord paralysis OMIM:164280
Branchiooculofacial Syndrome
Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Atypical scarring o... OMIM:113620
Spondyloepimetaphyseal Dysplasia, X-Linked
Lumbar hyperlordosis, Hypoplasia of the odontoid process, Kyphosis, Anterior wedging of T12, Plat... OMIM:300106
Congenital Total Pulmonary Venous Return Anomaly
Cyanosis ORPHA:99125
Yunis-Varon Syndrome
Kyphosis, Anterior concavity of thoracic vertebrae, Hypotonia OMIM:216340
Alström Syndrome
Optic disc pallor, Thoracic scoliosis, Dorsocervical fat pad, Kyphosis, Elevated circulating thyr... ORPHA:64

Histopathology

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

There is no histopathology data for 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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