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Gene: Egr3 MGI:1306780

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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:
early growth response 3
Synonyms:
Pilot

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 Egr3 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.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Egr3 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Posterior Column Ataxia
Scoliosis, Ataxia OMIM:176250
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Optic Atrophy 2
Optic atrophy, Babinski sign, Dysdiadochokinesis, Tremor OMIM:311050
Myasthenic Syndrome, Congenital, 18
Difficulty walking, Fatigable weakness, Ptosis, Ataxia, Knee flexion contracture OMIM:616330
Myasthenic Syndrome, Congenital, 15
Difficulty walking, Fatigable weakness, Frequent falls, Ptosis, Multiple joint contractures OMIM:616227
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Limb ataxia, Impaired proprioception, Progressive cerebellar ataxia, Fasciculations, Truncal atax... ORPHA:95434
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Distal lower limb muscle weakness, Steppage gait... OMIM:607684
Spinocerebellar Ataxia 43
Limb ataxia, Distal sensory impairment, Distal amyotrophy, Tremor, Gait ataxia, Rigidity, Ataxia OMIM:617018
X-Linked Charcot-Marie-Tooth Disease Type 1
Abnormal nerve conduction velocity, Impaired pain sensation, Scoliosis, Distal upper limb amyotro... ORPHA:101075
Episodic Ataxia, Type 1
Spastic gait, Babinski sign, Incoordination, Tremor, Episodic ataxia, Slurred speech OMIM:160120
Autosomal Dominant Spastic Ataxia Type 1
Spastic gait, Babinski sign, Hypertonia, Limb ataxia, Spastic dysarthria, Difficulty walking, Low... ORPHA:251282
X-Linked Charcot-Marie-Tooth Disease Type 3
Difficulty walking, Inability to walk, Distal upper limb amyotrophy, Distal amyotrophy, Scoliosis... ORPHA:101077
Myasthenic Syndrome, Congenital, 13
Ptosis, Scoliosis, Muscle fiber tubular inclusions, Fatigable weakness OMIM:614750
Oculopharyngeal Muscular Dystrophy 1
Ragged-red muscle fibers, Facial palsy, Gait disturbance, Limb muscle weakness, Ptosis, Progressi... OMIM:164300
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, Increased intramuscul... ORPHA:276435
Dystonia 1, Torsion, Autosomal Dominant
Abnormal posturing, Babinski sign, Hypertonia, Oromandibular dystonia, Torticollis, Writer's cram... OMIM:128100
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Impaired proprioception, Impaired temperature sensation, Impaired pain sensation, Abnormal motor ... DECIPHER:29
Congenital Arthrogryposis With Anterior Horn Cell Disease
Difficulty walking, Inability to walk, Abnormal anterior horn cell morphology, Scoliosis, Facial ... OMIM:611890
Juvenile Primary Lateral Sclerosis
Spastic gait, Spastic dysarthria, Gait imbalance, Abnormal upper motor neuron morphology, Spastic... ORPHA:247604
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Scoliosis, Tremor, Ataxia OMIM:213000
Myasthenic Syndrome, Congenital, 17
Ptosis, Type 1 muscle fiber predominance, Difficulty walking OMIM:616304
Roussy-Lévy Syndrome
Kyphoscoliosis, Babinski sign, Limb ataxia, Postural tremor, Difficulty walking, Somatic sensory ... ORPHA:3115
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Cerebellar ataxia associated with quadrupedal gait, Tremor, Ataxia, Slurred speech OMIM:613227
Amyotrophic Lateral Sclerosis 2, Juvenile
Spastic gait, Spastic tetraparesis, Spasticity of facial muscles, Head titubation, Ataxia, Opisth... OMIM:205100
Spastic Ataxia 1, Autosomal Dominant
Gait disturbance, Leg muscle stiffness, Spastic paraplegia, Ptosis, Dystonia, Spastic ataxia OMIM:108600
X-Linked Charcot-Marie-Tooth Disease Type 4
Decreased nerve conduction velocity, Impaired pain sensation, Scoliosis, Tremor, Kyphosis, Gait d... ORPHA:101078
Dystonia 31
Abnormal posturing, Difficulty walking, Leg dystonia, Writer's cramp, Craniofacial dystonia, Arm ... OMIM:619565
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Difficulty walking, Scoliosis, Distal amyotrophy, Hyperlordosis, Spinal muscular atrophy, Waddlin... OMIM:611067
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Babinski sign, Spasticity, Tremor, Ataxia, Flexion contracture, Skeletal muscle atrophy OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Distal amyotrophy, Vocal cord paralysis, Hand muscle weakness, Hand muscle atrophy, Weakness of f... OMIM:607641
Neuropathy, Hereditary Motor And Sensory, Russe Type
Distal lower limb muscle weakness, Difficulty walking, Distal sensory impairment, Claw hand defor... OMIM:605285
Spondylocostal Dysostosis 6, Autosomal Recessive
Butterfly vertebrae, Scoliosis, Hemivertebrae, Spinal canal stenosis, Cervical kyphosis OMIM:616566
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Optic atrophy, Babinski sign, Decreased sensory nerve conduction velocity, Hypertonia, Distal sen... OMIM:609260
Congenital Myasthenic Syndromes With Glycosylation Defect
Difficulty walking, Fatigable weakness, Ragged-red muscle fibers, Scoliosis, Scapular winging, Fa... ORPHA:353327
Leukoencephalopathy, Brain Calcifications, And Cysts
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Gait disturbance, Dystonia, Ata... OMIM:614561
Sandhoff Disease, Adult Form
Fasciculations, Spasticity, Tremor, Upper limb muscle weakness, Gait ataxia, Focal dystonia, Musc... ORPHA:309169
Segawa Syndrome, Autosomal Recessive
Abnormality of extrapyramidal motor function, Tremor, Parkinsonism with favorable response to dop... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Difficulty walking, Distal sensory impairment, Fasciculations, Calf muscle hypertrophy, Tremor, S... OMIM:615048
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Fasciculations, Distal amyotrophy, Tremor, Spinal muscular atrophy, Proximal amyotrophy, Loss of ... OMIM:182980
Primary Lateral Sclerosis, Juvenile
Spastic gait, Babinski sign, Spastic dysarthria, Decreased compound muscle action potential ampli... OMIM:606353
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Limb ataxia, Abnormality of extrapyramidal motor function, Scoliosis, Spasticity, ... OMIM:610743
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Difficulty walking, Progressive distal muscular atrophy, Tongue fasciculations, Scoliosis, Tremor... OMIM:159950
Primary Lateral Sclerosis, Adult, 1
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastic ... OMIM:611637
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Bilateral ptosis, Hypomimic face, Inability to walk, Scoliosis, Spasticity, Downsl... OMIM:619701
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Central core regions in muscle fibers, Progressive extrapyrami... ORPHA:401768
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
X-Linked Charcot-Marie-Tooth Disease Type 5
Optic atrophy, Abnormal nerve conduction velocity, Skeletal muscle hypertrophy, Impaired pain sen... ORPHA:99014
Spinal Muscular Atrophy, Type Iii
Limb fasciculations, Hand tremor, Tongue fasciculations, Distal amyotrophy, Spinal muscular atrop... OMIM:253400
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Difficulty walking, Distal amyotrophy, Tremor, Vocal cord paralysis, Vocal cord paresis, Abnormal... OMIM:158580
Parkinsonism-Dystonia 2, Infantile-Onset
Hypomimic face, Oculogyric crisis, Incoordination, Dysdiadochokinesis, Tremor, Shuffling gait, Ab... OMIM:618049
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Bilateral ptosis, Difficulty walking, Inability to walk, Oculogyric crisis, Scolio... ORPHA:330050
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Distal amyotrophy, Tremor, Distal sensory impairment, Fiber type grouping OMIM:614369
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Eyelid myoclonus, Difficulty walking, Inability to walk, Scoliosis, Tremor, Limb myoclonus, Waddl... ORPHA:2590
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Ptosis, Upslanted palpebral fissure, Epicanthus OMIM:620086
Spinocerebellar Ataxia 40
Broad-based gait, Dysdiadochokinesis, Tremor, Intention tremor, Gait ataxia, Ataxia, Unsteady gai... OMIM:616053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Clumsiness, Optic atrophy, Babinski sign, Generalized limb muscle atrophy, Hypertonia, Difficulty... ORPHA:137898
Dystonia, Dopa-Responsive
Bradykinesia, Babinski sign, Torticollis, Writer's cramp, Resting tremor, Incoordination, Scolios... OMIM:128230
Optic Atrophy 3, Autosomal Dominant
Optic atrophy, Abnormality of extrapyramidal motor function, Tremor, Optic disc pallor OMIM:165300
Spinocerebellar Ataxia, Autosomal Recessive 32
Hypomimic face, Bradykinesia, Limb ataxia, Torticollis, Abnormal nerve conduction velocity, Gait ... OMIM:619862
Spinocerebellar Ataxia Type 28
Limb ataxia, Babinski sign, Spasticity, Limb dystonia, Gait ataxia, Head tremor, Ptosis, Rigidity... ORPHA:101109
Spinocerebellar Ataxia, Autosomal Recessive 4
Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spasticity, Frequent falls... OMIM:607317
Monomelic Amyotrophy
Fasciculations, Distal upper limb amyotrophy, Tremor, Degeneration of anterior horn cells, Abnorm... ORPHA:65684
Myasthenic Syndrome, Congenital, 14
Weakness of facial musculature, Fatigable weakness, Ragged-red muscle fibers, Scoliosis, Hyperlor... OMIM:616228
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Ragged-red muscle fibers, Facial palsy, Waddling gait, Ptosis, Proximal amyot... OMIM:610542
Childhood-Onset Nemaline Myopathy
Bradykinesia, Generalized limb muscle atrophy, Spinal rigidity, Difficulty walking, Fatigable wea... ORPHA:171439
Atypical Pantothenate Kinase-Associated Neurodegeneration
Optic atrophy, Oromandibular dystonia, Chorea, Spasticity, Tremor, Upper motor neuron dysfunction... ORPHA:216873
Spinal Muscular Atrophy, X-Linked 2
Decreased compound muscle action potential amplitude, Tongue fasciculations, Scoliosis, Facial pa... OMIM:301830
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Hypomimic face, Babinski sign, Bradykinesia, Oromandibular dystonia, Scissor gait, Scoliosis, Tre... ORPHA:521406
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Babinski sign, Proximal muscle weakness in upper limbs, Difficulty walking, Lower limb spasticity... OMIM:613954
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Babinski sign, Difficulty walking, Progressive cerebellar ataxia, Spastic dysarthria, Oculomotor ... ORPHA:363429
Spinocerebellar Ataxia 37
Unsteady gait, Tremor, Ataxia, Frequent falls OMIM:615945
Spinocerebellar Ataxia 50
Apraxia, Chorea, Head tremor, Action tremor, Ptosis, Ataxia, Myoclonus, Postural tremor, Froment ... OMIM:620158
Osteomesopyknosis
Scoliosis, Sclerotic vertebral body, Kyphosis, Abnormal form of the vertebral bodies ORPHA:2777
Congenital Myopathy With Myasthenic-Like Onset
Type 1 muscle fiber predominance, Fatigable weakness, Scoliosis, Scapular winging, EMG: myopathic... ORPHA:424107
Inclusion Body Myopathy And Brain White Matter Abnormalities
Babinski sign, Proximal muscle weakness in upper limbs, Fasciculations, Rimmed vacuoles, Scapular... OMIM:619733
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Abnormal seventh cranial physiology, Limb fasciculations, Distal sensory impairment, Inability to... ORPHA:90117
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Muscular dystrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle weakness, S... OMIM:619566
Spinal Muscular Atrophy, Type Iv
Hand tremor, Tongue fasciculations, Calf muscle hypertrophy, Rimmed vacuoles, Waddling gait, Spin... OMIM:271150
Oculomotor-Levator Synkinesis
Ptosis, Abnormal eyelid morphology, Eyelid retraction OMIM:151610
Spinocerebellar Ataxia Type 38
Somatic sensory dysfunction, Tremor, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Tremor by anatomical site, Head tremor, Action tremor, Upper limb postural tremor, Gait ataxia, A... ORPHA:98769
Epilepsy, Familial Adult Myoclonic, 3
Difficulty walking, Enhancement of the C-reflex, Tremor, Giant somatosensory evoked potentials, M... OMIM:613608
Spastic Ataxia 2, Autosomal Recessive
Babinski sign, Torticollis, Fasciculations, Distal amyotrophy, Tremor, Spasticity, Frequent falls... OMIM:611302
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis, Calf muscle hypertrophy, Fatigable weakness, Frequent falls OMIM:618197
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Bilateral ptosis, Limb-girdle muscle weakness, Ataxia, Limb-girdle muscle atrophy,... ORPHA:329314
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Bilateral ptosis, Positive Romberg sign, Impaired distal vibration sensation, Gait ataxia, Rigidi... OMIM:258450
Frontotemporal Dementia With Motor Neuron Disease
Babinski sign, Progressive cerebellar ataxia, Apraxia, Fasciculations, Abnormality of extrapyrami... ORPHA:275872
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Scoliosis, Spasticity, Aplasia of the left hemidiaphragm, Ptosis, Dystonia, Spasti... OMIM:618238
Myasthenic Syndrome, Congenital, 16
Bilateral ptosis, Fatigable weakness, Hyperlordosis, Gait disturbance, Ptosis, Periodic paralysis OMIM:614198
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Bilateral ptosis, Fatigable weakness of respiratory muscles, Gait imbalance, Limb dysmetria, Scol... ORPHA:329336
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Bradykinesia, Distal sensory impairment, Ragged-red muscle fibers, Parkinsonism wi... ORPHA:254886
Spinocerebellar Ataxia 18
Babinski sign, Dysdiadochokinesis, Tremor, Limb muscle weakness, Skeletal muscle atrophy, Progres... OMIM:607458
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Progressive cerebellar ataxia, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Dy... ORPHA:254881
Spinocerebellar Ataxia Type 37
Falls, Truncal ataxia, Dysdiadochokinesis, Tremor, Myoclonus, Cogwheel rigidity, Gait disturbance... ORPHA:363710
Roussy-Levy Hereditary Areflexic Dystasia
Kyphoscoliosis, Distal sensory impairment, Distal amyotrophy, Gait ataxia, Action tremor, Upper l... OMIM:180800
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Kyphoscoliosis, Distal amyotrophy, Tremor, Ataxia OMIM:619099
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Bilateral ptosis, Babinski sign, Difficulty walking, Broad-based gait, Ragged-red muscle fibers, ... OMIM:616479
Classic Pantothenate Kinase-Associated Neurodegeneration
Abnormal posturing, Tip-toe gait, Inability to walk, Spasticity, Frequent falls, Gait disturbance... ORPHA:216866
Spinocerebellar Ataxia 28
Limb ataxia, Babinski sign, Ragged-red muscle fibers, Spasticity, Gait ataxia, Ptosis, Lower limb... OMIM:610246
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology, Hand muscle atrophy, Segmental spinal muscular atrophy OMIM:183020
Atypical Juvenile Parkinsonism
Hypomimic face, Bradykinesia, Akinesia, Inability to walk, Resting tremor, Scoliosis, Shuffling g... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Steppage gait, Distal sensory impairment, Distal amyotrophy, Tremor, Gait ataxia, Limb muscle wea... OMIM:618387
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Abnormality of the vertebral column, Fasciculations, Abnormal motor neuron morphology, Rimmed vac... ORPHA:52430
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Hyperkinetic movements, Torticollis, Chorea, Tremor, Dystonia, Ataxia OMIM:618425
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Tip-toe gait, Babinski sign, Distal lower limb muscle weakness, Difficulty walking, Distal sensor... OMIM:302800
Charcot-Marie-Tooth Disease And Deafness
Steppage gait, Distal sensory impairment, Distal amyotrophy, Tremor, Gait disturbance, Limb muscl... OMIM:118300
Epilepsy, Familial Adult Myoclonic, 1
Giant somatosensory evoked potentials, Tremor, Enhancement of the C-reflex OMIM:601068
Myasthenic Syndrome, Congenital, 8
Ptosis, Weakness of facial musculature OMIM:615120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Hypomimic face, Babinski sign, Bradykinesia, Scissor gait, Lower limb spasticity, Abnormality of ... OMIM:260300
Huntington Disease-Like 1
Abnormal posturing, Bradykinesia, Chorea, Incoordination, Poor fine motor coordination, Frequent ... ORPHA:157941
Myasthenic Syndrome, Congenital, 5
Fatigable weakness, Scoliosis, Hyperlordosis, Prolonged miniature endplate currents, Limb muscle ... OMIM:603034
Dyskinesia, Limb And Orofacial, Infantile-Onset
Hemiballismus, Hyperkinetic movements, Chorea, Tremor, Frequent falls, Unsteady gait OMIM:616921
Spastic Ataxia 5, Autosomal Recessive
Oculomotor apraxia, Distal amyotrophy, Spasticity, Myoclonus, Dysdiadochokinesis, Ptosis, Dystoni... OMIM:614487
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Chorea, Tremor, Upper motor neuron dysfunction, Rigidity, Dystonia, Ataxia, Parkinsonism, Myoclonus ORPHA:401901
Spinocerebellar Ataxia Type 36
Limb ataxia, Babinski sign, Difficulty walking, Fasciculations, Tongue fasciculations, Truncal at... ORPHA:276198
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Hemiballismus, Chorea, Tremor, Frequent falls, Unsteady gait ORPHA:494526
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Babinski sign, Ragged-red muscle fibers, Truncal ataxia, Spasticity, Myoclonus, Ab... OMIM:252011
Spinocerebellar Ataxia 7
Optic atrophy, Babinski sign, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor ... OMIM:164500
Charcot-Marie-Tooth Disease Type 1F
Fasciculations, Optic nerve hypoplasia, Positive Romberg sign, Gait ataxia, Flexion contracture o... ORPHA:101085
Congenital Myopathy 6 With Ophthalmoplegia
Muscle fiber inclusion bodies, Scoliosis, Scapular winging, Waddling gait, Congenital contracture... OMIM:605637
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Typical Nemaline Myopathy
Spinal rigidity, Fatigable weakness of respiratory muscles, Facial diplegia, Hyperlordosis, Kypho... ORPHA:171436
Amyotrophic Lateral Sclerosis 4, Juvenile
Babinski sign, Difficulty walking, Decreased compound muscle action potential amplitude, Pallor o... OMIM:602433
Spinocerebellar Ataxia Type 12
Bradykinesia, Tremor by anatomical site, Poor fine motor coordination, Gait disturbance, Intentio... ORPHA:98762
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Spasticity, Abnormal auditory evoked potentials, Gait disturbance, Ptosis, Increas... OMIM:125250
Oculopharyngodistal Myopathy 3
Internally nucleated skeletal muscle fibers, Distal amyotrophy, Rimmed vacuoles, Tremor, Limb mus... OMIM:619473
Myopathy, Centronuclear, 1
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Distal lower limb muscle... OMIM:160150
Combined Oxidative Phosphorylation Deficiency 45
Short neck, Tremor, Ataxia, Epicanthus OMIM:618951
Behr Syndrome
Optic atrophy, Adductor longus contractures, Babinski sign, Truncal ataxia, Tremor, Progressive s... OMIM:210000
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Truncal ataxia, Dysdiadochokinesis, Thoracic kyphosis, Tremor, Gait ataxia, Int... OMIM:610185
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Spinocerebellar Ataxia 38
Limb ataxia, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615957
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Limb ataxia, Progressive cerebellar ataxia, Fasciculations, Truncal ataxia, Leg muscle stiffness,... ORPHA:284289
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Scoliosis, Facial palsy, Decreased miniature endplate potentials, Limb muscle weakness, Ptosis, W... OMIM:608930
Spinocerebellar Ataxia Type 14
Limb ataxia, Progressive cerebellar ataxia, Tremor, Gait ataxia, Rigidity, Myoclonus, Abnormality... ORPHA:98763
Machado-Joseph Disease
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Facial-lingual fascicula... OMIM:109150
Dystonia 28, Childhood-Onset
Tip-toe gait, Oromandibular dystonia, Torticollis, Retrocollis, Spasticity, Tremor, Craniofacial ... OMIM:617284
Atypical Rett Syndrome
Pill-rolling tremor, Inability to walk, Apraxia, Impaired pain sensation, Scoliosis, Tremor, Spas... ORPHA:3095
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis, Tremor, Ataxia, Weakness of facial musculature OMIM:618637
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Distal amyotrophy, Waddling gait, Ptosis, Proximal amyotrophy, Weakness of fa... OMIM:254300
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Kinetic tremor, Tremor, Gait disturbance OMIM:611808
Dna2-Related Mitochondrial Dna Deletion Syndrome
Difficulty walking, Congenital ptosis, Hyperlordosis, Gait disturbance, Limb-girdle muscle weakne... ORPHA:352470
Spinocerebellar Ataxia 12
Progressive cerebellar ataxia, Axial dystonia, Dysdiadochokinesis, Facial myokymia, Head tremor, ... OMIM:604326
Primary Dystonia, Dyt13 Type
Torticollis, Torsion dystonia, Craniofacial dystonia, Limb dystonia, Involuntary movements, Actio... ORPHA:98807
Caribbean Parkinsonism
Bradykinesia, Orthostatic hypotension, Apraxia, EMG: myopathic abnormalities, Abnormal autonomic ... ORPHA:97355
Spinocerebellar Ataxia Type 20
Bradykinesia, Isometric tremor, Tremor by anatomical site, Gait ataxia, Intention tremor, Upper l... ORPHA:101110
Autosomal Recessive Dopa-Responsive Dystonia
Bradykinesia, Babinski sign, Generalized dystonia, Oculogyric crisis, Abnormality of extrapyramid... ORPHA:101150
Postsynaptic Congenital Myasthenic Syndromes
Hip flexor weakness, Fatigable weakness of respiratory muscles, Abnormality of masticatory muscle... ORPHA:98913
Polyglucosan Body Neuropathy, Adult Form
Distal sensory impairment, Orthostatic hypotension, Abnormal upper motor neuron morphology, Gait ... OMIM:263570
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Muscle fiber splitting, Fatigable weakness, Facial palsy, Limb muscle weakness, Ptosis, Increased... OMIM:616313
Autosomal Spastic Paraplegia Type 58
Tip-toe gait, Babinski sign, Torticollis, Erratic myoclonus, Fasciculations, Chorea, Distal amyot... ORPHA:397946
Myopathy, Centronuclear, 2
Scoliosis, Hyperlordosis, Facial palsy, Scapular winging, EMG: myopathic abnormalities, Kyphosis,... OMIM:255200
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Tremor, Facial palsy, Abnormal autonomic nervous system physio... ORPHA:97229
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Generalized limb muscle atrophy, Steppage gait, Fasciculations, Impaired vibration sensation in t... ORPHA:521411
Epilepsy, Progressive Myoclonic, 6
Difficulty walking, Scoliosis, Tremor, Ataxia, Loss of ambulation, Myoclonus OMIM:614018
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology, Distal amyotrophy, Spasticity, Intention tremor, Gait ata... OMIM:215470
Spinocerebellar Ataxia, Autosomal Recessive 16
Limb ataxia, Babinski sign, Truncal ataxia, Spasticity, Tremor, Unsteady gait, Ankle clonus OMIM:615768
Adult-Onset Distal Myopathy Due To Vcp Mutation
Decreased nerve conduction velocity, Abnormality of the musculature of the lower limbs, Difficult... ORPHA:329478
Basal Ganglia Disease, Biotin-Thiamine Responsive
Babinski sign, Hypertonia, Truncal titubation, Inability to walk, Chorea, Facial palsy, Craniofac... OMIM:607483
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased distal sensory nerve action potential, Decreased sensory nerve conduction velocity, Dec... ORPHA:206594
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis, Prolonged miniature endplate currents, Loss of ambulation, Decreased miniature endplate p... OMIM:616321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ragged-red muscle fibers, Ptosis, Facial palsy, EMG: myopathic abnormalities OMIM:609283
Multiple System Atrophy
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:102
Oculopharyngodistal Myopathy
Abnormality of orbicularis oris muscle, Proximal muscle weakness in upper limbs, Distal lower lim... ORPHA:98897
Juvenile Amyotrophic Lateral Sclerosis
Lower-limb joint contracture, Chorea, Head titubation, Ataxia, Opisthotonus, Amyotrophic lateral ... ORPHA:300605
Intellectual Developmental Disorder, X-Linked 104
Optic atrophy, Spasticity, Tremor, Ataxia OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Tremor, Ptosis, Dystonia, Ataxia, Lumbar kyphoscoliosis, Choreoathetosis OMIM:619422
Adult Neuronal Ceroid Lipofuscinosis
Abnormality of extrapyramidal motor function, Spasticity, Tremor, Ataxia, Abnormal pyramidal sign... ORPHA:79262
Sporadic Infantile Bilateral Striatal Necrosis
Hypomimic face, Abnormal posturing, Babinski sign, Bradykinesia, Progressive extrapyramidal muscu... ORPHA:225147
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Optic atrophy, Broad-based gait, Elbow flexion contracture, Spastic tetraparesis, Tremor OMIM:619470
Coenzyme Q10 Deficiency, Primary, 4
Decreased level of coenzyme Q10 in skeletal muscle, Tremor, Ptosis, Increased intramyocellular li... OMIM:612016
Spinocerebellar Ataxia, Autosomal Recessive 13
Inability to walk, Dysdiadochokinesis, Tremor, Gait ataxia, Ptosis, Ataxia, Abnormal pyramidal si... OMIM:614831
Brain Dopamine-Serotonin Vesicular Transport Disease
Hypomimic face, Hypertonia, Oculogyric crisis, Dysdiadochokinesis, Tremor, Spastic tetraparesis, ... ORPHA:352649
Autosomal Recessive Ataxia, Beauce Type
Babinski sign, Lower limb spasticity, Fasciculations, Scoliosis, Spasticity, Upper motor neuron d... ORPHA:88644
Myoclonus, Intractable, Neonatal
Chorea, Athetosis, Ptosis, Increased variability in muscle fiber diameter, Myoclonus, Optic disc ... OMIM:617235
Amyotrophic Lateral Sclerosis 5, Juvenile
Babinski sign, Fasciculations, Distal amyotrophy, Spasticity, Abnormal pyramidal sign, Abnormal l... OMIM:602099
Mohr-Tranebjaerg Syndrome
Abnormal posturing, Spasticity, Tremor, Intrinsic hand muscle atrophy, Dystonia OMIM:304700
Cataract-Ataxia-Deafness Syndrome
Hypertonia, Decreased nerve conduction velocity, Ataxia, Tremor ORPHA:1368
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis, Abnormal mitochondria in muscle tissue OMIM:258470
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Multiple System Atrophy, Cerebellar Type
Bradykinesia, Limb ataxia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Broad-b... ORPHA:227510
Parkinson Disease 22, Autosomal Dominant
Bradykinesia, Orthostatic hypotension, Resting tremor, Parkinsonism with favorable response to do... OMIM:616710
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper... ORPHA:99956
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysdiadochokinesis, Gait ataxia, Ptosis, Limb dysmetria, Dysmetria ORPHA:324262
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Optic atrophy, Babinski sign, Hypertonia, Steppage gait, Distal sensory impairment, Scoliosis, Di... OMIM:616505
Glycosylphosphatidylinositol Biosynthesis Defect 15
Optic atrophy, Inability to walk, Apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria OMIM:617810
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Spastic dysarthria, Oculomotor apraxia, Distal amyotrophy, Spasticity, Dysdiadochokinesis, Abnorm... ORPHA:313772
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Type 2 muscle fiber predominance, Tremor, Ataxia, Myoclonus, Impaired tand... OMIM:619028
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Spinocerebellar Ataxia 23
Limb ataxia, Babinski sign, Impaired distal proprioception, Impaired vibration sensation in the l... OMIM:610245
Neurodegeneration With Brain Iron Accumulation 8
Tremor, Unsteady gait, Ataxia, Loss of ambulation, Dysmetria OMIM:617917
Multiple System Atrophy, Parkinsonian Type
Bradykinesia, Progressive cerebellar ataxia, Axial dystonia, Resting tremor, Abnormal autonomic n... ORPHA:98933
Pure Mitochondrial Myopathy
Bilateral ptosis, Fatigable weakness of bulbar muscles, Scoliosis, Scapular winging, Waddling gai... ORPHA:254854
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Bradykinesia, Babinski sign, Limb fasciculations, Limb ataxia, Apraxia, Resting tremor, Incoordin... OMIM:615157
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Difficulty walking, Limb hypertonia, Spasticity, Tremor, Involuntary movements, Pt... ORPHA:442835
Hsd10 Disease
Optic atrophy, Tremor, Gait disturbance, Rigidity, Ataxia, Myoclonus, Spastic paraparesis, Choreo... ORPHA:391417
Neuroectodermal Melanolysosomal Disease
Optic atrophy, Hypertonia, Spasticity, Tremor, Rigidity, Ataxia ORPHA:33445
Spastic Paralysis, Infantile-Onset Ascending
Babinski sign, Scoliosis, Tetraplegia, Spastic paraplegia, Achilles tendon contracture, Spastic t... OMIM:607225
Dystonia 12
Hypomimic face, Bradykinesia, Torticollis, Tremor, Dystonia, Unsteady gait, Parkinsonism OMIM:128235
X-Linked Intellectual Disability, Hedera Type
Hypomimic face, Babinski sign, Inability to walk, Apraxia, Scoliosis, Extrapyramidal muscular rig... ORPHA:93952
Spastic Paraplegia 6, Autosomal Dominant
Spastic gait, Babinski sign, Lower limb spasticity, Impaired vibration sensation in the lower lim... OMIM:600363
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Spinocerebellar tract degene... OMIM:617916
Epilepsy, Progressive Myoclonic, 1B
Babinski sign, Tremor, Ataxia, Myoclonus, Dysmetria OMIM:612437
Dystonia 11, Myoclonic
Tremor, Myoclonus, Torticollis, Writer's cramp OMIM:159900
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Kyphoscoliosis, Inability to walk, Spasticity, Tremor, Ptosis, Joint contracture, ... OMIM:617664
X-Linked Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98863
Basal Ganglia Calcification, Idiopathic, 1
Bradykinesia, Chorea, Dysdiadochokinesis, Tremor, Athetosis, Gait disturbance, Rigidity, Dystonia... OMIM:213600
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Muscular dystrophy, Spinal rigidity, Rimmed vacuoles, Scapular winging, Autophagic vacuoles, EMG:... OMIM:608423
Intellectual Disability-Developmental Delay-Contractures Syndrome
Oculomotor apraxia, Congenital foot contractures, Scoliosis, Distal amyotrophy, Kyphosis, Ptosis ORPHA:3454
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Striatal Degeneration, Autosomal Dominant 1
Bradykinesia, Dysdiadochokinesis, Tremor, Gait disturbance, Rigidity, Slurred speech OMIM:609161
Dentatorubral Pallidoluysian Atrophy
Limb ataxia, Impaired proprioception, Oromandibular dystonia, Progressive cerebellar ataxia, Dyss... ORPHA:101
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis, Hemiplegia ORPHA:2997
Neuronal Intranuclear Inclusion Disease
Decreased sensory nerve conduction velocity, Tremor, Gait disturbance, Rigidity, Ataxia, Decrease... OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 26
Short palpebral fissure, Hypertonia, Highly arched eyebrow, Scoliosis, Cerebral palsy, Kyphosis, ... OMIM:615834
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Limb ataxia, Distal sensory impairment, Oculomotor apraxia, Chorea, Scoliosis, Distal amyotrophy,... OMIM:208920
2p15-16.1 microdeletion syndrome
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Telecanthus DECIPHER:70
Intellectual Developmental Disorder, Autosomal Recessive 48
Narrow palpebral fissure, Tremor, Waddling gait, Inability to walk OMIM:616269
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Fasciculations, Impaired pain sensation, Scoliosi... OMIM:619574
Hypermanganesemia With Dystonia 2
Limb dystonia, Lower limb hypertonia, Opisthotonus, Clumsiness, Tip-toe gait, Babinski sign, Scis... OMIM:617013
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Kyphoscoliosis, Spastic gait, Babinski sign, Bradykinesia, Apraxia, Facial hypotonia, Resting tre... OMIM:300055
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Decreased cervical spine flexion due to contractures of posterior cervical musc... ORPHA:254361
Myopathy With Extrapyramidal Signs
Optic atrophy, Difficulty walking, Abnormality of extrapyramidal motor function, Chorea, Calf mus... OMIM:615673
Brown-Vialetto-Van Laere Syndrome 1
Gait imbalance, Tongue fasciculations, Scoliosis, Truncal ataxia, Facial palsy, Knee clonus, Kyph... OMIM:211530
Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Spinal rigidity, Hyperlordosis, Kyphosis, Limb-girdle muscular dystrophy, Myopathy, Proximal musc... ORPHA:98853
Ataxia With Vitamin E Deficiency
Hypertonia, Scoliosis, Tremor, Dysdiadochokinesis, Gait disturbance, Hemiplegia/hemiparesis, Dyst... ORPHA:96
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Neurodegeneration With Brain Iron Accumulation 4
Optic atrophy, Babinski sign, Oromandibular dystonia, Abnormality of extrapyramidal motor functio... OMIM:614298
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Difficulty walking, Distal sensory impairment, Inability to walk, Distal amyotroph... ORPHA:254930
Corticobasal Syndrome
Bradykinesia, Akinesia, Limb apraxia, Oromotor apraxia, Progressive extrapyramidal muscular rigid... ORPHA:454887
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired proprioception, Aganglionic megacolon, Abnormal autonomic nervous system physiology, Gai... OMIM:243180
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis, Arthrogryposis multiplex congenita, Falls OMIM:616326
X-Linked Charcot-Marie-Tooth Disease Type 2
Babinski sign, Distal lower limb muscle weakness, Peroneal muscle weakness, Distal sensory impair... ORPHA:101076
Spastic Paraplegia 9A, Autosomal Dominant
Spastic gait, Hoffmann sign, Babinski sign, Lower limb spasticity, Resting tremor, Abnormal upper... OMIM:601162
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Bradykinesia, Babinski sign, Tremor, Parkinsonism with favorable response to dopaminergic medicat... ORPHA:314632
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Head tremor, Ptosis, Dystonia, Myoclonus, Impaired tandem gait, Hand... OMIM:619724
Encephalopathy, Progressive, With Or Without Lipodystrophy
Spasticity, Tremor, Dystonia, Ataxia, Myoclonus, Abnormal pyramidal sign, Tetraparesis OMIM:615924
Spinocerebellar Ataxia, Autosomal Recessive 21
Limb ataxia, Distal sensory impairment, Impaired pain sensation, Spasticity, Tremor, Frequent fal... OMIM:616719
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Inability to wa... OMIM:218000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Falls, Hyperlordosis, Gait disturbance, Ptosis, Generalized amyotrophy, Pelvic girdle muscle weak... OMIM:615156
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Spasticity, Ptosis, Knee flexion contracture, Spastic tetraplegia OMIM:616681
Spinocerebellar Ataxia 36
Limb ataxia, Babinski sign, Hypertonia, Fasciculations, Tongue fasciculations, Incoordination, Tr... OMIM:614153
Oculopharyngodistal Myopathy 4
Rimmed vacuoles, Autophagic vacuoles, EMG: myopathic abnormalities, Tremor, Ptosis, Increased var... OMIM:619790
Late-Infantile/Juvenile Krabbe Disease
Acroparesthesia, Delayed brainstem auditory evoked response conduction time, Decreased nerve cond... ORPHA:206443
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Limb ataxia, Oculomotor apraxia, Dysdiadochokinesis, Tremor, Gait disturbance, Gait ataxia, Dysto... OMIM:617145
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Paroxysmal dyskinesia, Limb hypertonia, Resting tremor, Chorea, Facial myokymia, Involuntary move... OMIM:606703
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Bradykinesia, Hypertonia, Hyperkinetic movements, Oculogyric crisis, Falls, Abnormality of extrap... ORPHA:13
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Babinski sign, Abnormality of extrapyramidal motor function, Tremor, Gait ataxia, Ataxia, Myoclonus OMIM:615362
Pelizaeus-Merzbacher Disease, Classic Form
Difficulty walking, Abnormality of extrapyramidal motor function, Spasticity, Athetosis, Spastic ... ORPHA:280219
Leukodystrophy, Hypomyelinating, 20
Babinski sign, Hypertonia, Torticollis, Scoliosis, Ptosis, Dystonia, Spastic tetraplegia OMIM:619071
Oculopharyngodistal Myopathy 2
Rimmed vacuoles, EMG: myopathic abnormalities, Ptosis, Increased variability in muscle fiber diam... OMIM:618940
Oculopharyngeal Muscular Dystrophy
Spondylolisthesis, Ragged-red muscle fibers, Rimmed vacuoles, Ptosis, Abnormal muscle fiber morph... ORPHA:270
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Apraxia, Paraparesis, Extrapyramidal dyskinesia, Parkinsonism, Skeletal muscle atrophy, Amyotroph... OMIM:105550
Spinocerebellar Ataxia, Autosomal Recessive 2
Limb ataxia, Incoordination, Spasticity, Tremor, Gait ataxia, Ataxia, Unsteady gait, Dysmetria OMIM:213200
Atypical Progressive Supranuclear Palsy Syndrome
Kyphoscoliosis, Bradykinesia, Oculomotor apraxia, Falls, Tremor by anatomical site, Extrapyramida... ORPHA:99750
Myoclonic-Atonic Epilepsy
Eyelid myoclonus, Scoliosis, Tremor, Ataxia OMIM:616421
Dystonia 3, Torsion, X-Linked
Torsion dystonia, Chorea, Tremor, Parkinsonism with favorable response to dopaminergic medication... OMIM:314250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Kyphoscoliosis, Ankle flexion contracture, Weakness of facial musculature, Inflammatory myopathy,... ORPHA:1145
Pelizaeus-Merzbacher Disease
Optic atrophy, Writer's cramp, Inability to walk, Broad-based gait, Scoliosis, Tremor, Intention ... OMIM:312080
Spinocerebellar Ataxia 2
Bradykinesia, Babinski sign, Limb ataxia, Progressive cerebellar ataxia, Oculomotor apraxia, Fasc... OMIM:183090
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis, Gait disturbance, Muscular dystrophy, Kyphosis ORPHA:1875
Whistling Face Syndrome, Recessive Form
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Shoulder flexion contracture, Elbow flexion... OMIM:277720
Primary Lateral Sclerosis
Spastic gait, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, Spastici... ORPHA:35689
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy, Fatigable weakness OMIM:616322
Beta-Propeller Protein-Associated Neurodegeneration
Optic atrophy, Bradykinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dyst... ORPHA:329284
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Limb hypertonia, Abnormality of extrapyramidal motor function, Scoliosis, Ptosis, ... OMIM:619527
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Fatigable weakness, Decreased miniature endplate potentials, Limb muscle weakness, Ptosis, Genera... OMIM:605809
Oculopharyngeal Muscular Dystrophy 2
Limb muscle weakness, Ptosis, Loss of ambulation, Ankle contracture, Proximal muscle weakness in ... OMIM:620460
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Ptosis, Type 1 fibers relatively smaller than type 2 fib... OMIM:300580
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Ptosis, Decreased muscle mass, Skeletal muscle atrophy, Arthrog... OMIM:608931
Primary Dystonia, Dyt2 Type
Difficulty walking, Torticollis, Torsion dystonia, Tremor, Blepharospasm, Limb dystonia, Involunt... ORPHA:99657
Myasthenic Syndrome, Congenital, 6, Presynaptic
Fatigable weakness, Decreased miniature endplate potentials, Ptosis, Generalized hypotonia due to... OMIM:254210
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal m... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Fasciculations, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Skeletal m... OMIM:616437
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy, Fatigable weakness OMIM:616325
Hemiparkinsonism-Hemiatrophy Syndrome
Bradykinesia, Difficulty walking, Scoliosis, Tremor, Hemiparesis, Dystonia, Parkinsonism ORPHA:306669
Pontine Tegmental Cap Dysplasia
Oculomotor apraxia, Scoliosis, Hemivertebrae, Facial palsy, Ptosis, Head titubation, Ataxia, Ankl... OMIM:614688
Autism Spectrum Disorder Due To Auts2 Deficiency
Bilateral ptosis, Short palpebral fissure, Hypertonia, Joint contracture of the 5th finger, Highl... ORPHA:352490
Lopes-Maciel-Rodan Syndrome
Bradykinesia, Hypertonia, Scoliosis, Tremor, Spasticity, Kyphosis, Dystonia, Unsteady gait, Ankle... OMIM:617435
4H Leukodystrophy
Optic atrophy, Abnormality of extrapyramidal motor function, Dysdiadochokinesis, Tremor, Upper mo... ORPHA:289494
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Ptosis, Distal lower limb muscle weakness, Proximal muscle ... ORPHA:171706
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Inability to walk, Tremor, Gait disturbance, Gait ataxia, Rigidity, Dysmetria OMIM:618090
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Babinski sign, Spasticity, Tremor, Dystonia, Ataxia, Loss of ambulation, Postural ... OMIM:607694
Leukodystrophy, Hypomyelinating, 6
Optic atrophy, Oculomotor apraxia, Spasticity, Tremor, Rigidity, Dystonia, Ataxia, Choreoathetosis OMIM:612438
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Fatigable weakness, Prolonged miniature endplate currents, Upper limb muscle weakness, Ptosis, In... OMIM:601462
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis OMIM:300928
Intellectual Developmental Disorder, Autosomal Dominant 56
Hypomimic face, Bradykinesia, Inability to walk, Lower limb spasticity, Oromotor apraxia, Broad-b... OMIM:617854
Spinocerebellar Ataxia 48
Babinski sign, Chorea, Tremor, Gait ataxia, Dystonia, Ataxia, Parkinsonism, Dysmetria OMIM:618093
Machado-Joseph Disease Type 3
Babinski sign, Progressive cerebellar ataxia, Facial-lingual fasciculations, Abnormality of extra... ORPHA:276244
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis, Spastic tetraparesis, Inability to walk ORPHA:438178
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Bradykinesia, Falls, Tremor, Parkinsonism with favorable response to dopaminergic medication, Axi... ORPHA:240085
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy, Hemiplegia ORPHA:2743
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ragged-red muscle fibers, Scapular winging, Ptosis, Skeletal muscle atrophy, Weakness of facial m... OMIM:617069
King-Denborough Syndrome
Kyphoscoliosis, Bilateral ptosis, Scoliosis, Thoracic kyphosis, Ptosis, Downslanted palpebral fis... OMIM:619542
Adult-Onset Autosomal Dominant Leukodystrophy
Spastic gait, Impaired distal vibration sensation, Abnormal autonomic nervous system physiology, ... ORPHA:99027
Autosomal Recessive Spastic Paraplegia Type 75
Babinski sign, Temporal optic disc pallor, Spasticity, Titubation, Spastic paraplegia, Abnormal p... ORPHA:459056
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Fasciculations, Calf muscle hypertrophy, Tremor, Shuffling gait, Upper limb muscle weakness, Wadd... ORPHA:209335
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Hypomimic face, Bradykinesia, Oculogyric crisis, Limb hypertonia, Tremor, Cerebral palsy, Ptosis,... ORPHA:70594
Parkinson Disease 2, Autosomal Recessive Juvenile
Pill-rolling tremor, Babinski sign, Bradykinesia, Resting tremor, Tremor, Shuffling gait, Cogwhee... OMIM:600116
Hengel-Maroofian-Schols Syndrome
Gait imbalance, Foot joint contracture, Inability to walk, Tetraplegia, Spasticity, Upper motor n... OMIM:619641
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Hypomimic face, Abnormal vestibulo-ocular reflex, Babinski sign, Akinesia, Abnormal cranial nerve... ORPHA:247234
Amyotrophic Lateral Sclerosis 21
Distal lower limb muscle weakness, Decreased nerve conduction velocity, Distal sensory impairment... OMIM:606070
Infantile Neuronal Ceroid Lipofuscinosis
Chorea, Spasticity, Tremor, Poor fine motor coordination, Myoclonic spasms, Dystonia, Ataxia, Uns... ORPHA:79263
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Ptosis, Thick eyebrow, Knee flexion contracture, Interphalangeal joint contracture of finger OMIM:606242
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Limb ataxia, Impaired proprioception, Oculomotor apraxia, Chorea, Distal amyotrophy, Scoliosis, T... OMIM:606002
Congenital Myopathy 22A, Classic
Bilateral ptosis, Spinal rigidity, Kyphosis, Congenital finger flexion contractures, Centrally nu... OMIM:620351
Congenital Myopathy 4A, Autosomal Dominant
Scoliosis, Facial palsy, Ptosis, Centrally nucleated skeletal muscle fibers, Type 1 fibers relati... OMIM:255310
Kufor-Rakeb Syndrome
Bradykinesia, Babinski sign, Hypertonia, Akinesia, Distal sensory impairment, Torticollis, Spasti... OMIM:606693
Progressive Supranuclear Palsy-Corticobasal Syndrome
Bradykinesia, Limb apraxia, Apraxia, Progressive extrapyramidal muscular rigidity, Parkinsonism w... ORPHA:240103
Autosomal Recessive Spastic Paraplegia Type 77
Kyphoscoliosis, Babinski sign, Bradykinesia, Paroxysmal dystonia, Scissor gait, Lower limb spasti... ORPHA:466722
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Paralysis, Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism OMIM:105500
Borjeson-Forssman-Lehmann Syndrome
Cervical spinal canal stenosis, Scoliosis, Kyphosis, Ptosis, Scheuermann-like vertebral changes, ... OMIM:301900
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Tremor, Distal sensory impairment OMIM:607734
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Bradykinesia, Ragged-red muscle fibers, Resting tremor, Impaired distal proprioception, Parkinson... OMIM:157640
Congenital Myopathy 19
Facial hypotonia, Scoliosis, Gait disturbance, Congenital contracture, Ptosis, Skeletal muscle at... OMIM:618578
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Chorea, Truncal ataxia, Tremor, Gait ataxia, Myoclonus OMIM:618587
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Hypertonia, Impaired tactile sensation, Thoracic kyphosis, Tremor, Gait ataxia, Ataxia, Myoclonus... OMIM:619092
Wernicke-Korsakoff Syndrome
Ptosis, Ataxia OMIM:277730
Combined Oxidative Phosphorylation Deficiency 54
Hypertonia, Scoliosis, Tremor, Hemiparesis, Hypoesthesia, Epicanthus, Impaired vibratory sensatio... OMIM:619737
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Babinski sign, Ptosis, Ataxia, Parkinsonism, Amyotrophic lateral sclerosis OMIM:615911
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Abnormal cranial nerve morphology, Synophrys, Ptosis, Thick eyebrow, Bleph... ORPHA:2057
Neurodegeneration With Brain Iron Accumulation 3
Hypomimic face, Babinski sign, Bradykinesia, Writer's cramp, Chorea, Spasticity, Tremor, Blepharo... OMIM:606159
Wieacker-Wolff Syndrome
Oculomotor apraxia, Congenital foot contractures, Apraxia, Distal amyotrophy, Hyperlordosis, Faci... OMIM:314580
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Horizontal eyebrow, Ptosis, Epicanthus OMIM:619311
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Gait disturbance, Almond-shaped palpebral fissure, Synophrys, Ptosis, Epicanthus, Hand tremor, Up... ORPHA:589905
Congenital Myopathy 1B, Autosomal Recessive
Muscular dystrophy, Type 1 and type 2 muscle fiber minicore regions, Scoliosis, Facial palsy, Nem... OMIM:255320
Jaberi-Elahi Syndrome
Optic atrophy, Inability to walk, Appendicular spasticity, Broad-based gait, Scoliosis, Tremor, K... OMIM:617988
Amyotrophy, Hereditary Neuralgic
Ptosis, Brachial plexus neuropathy, Skeletal muscle atrophy, Epicanthus, Upslanted palpebral fiss... OMIM:162100
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Bilateral ptosis, Temporal optic disc pallor, Absent brainstem auditory responses,... ORPHA:1215
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Optic atrophy, Difficulty walking, Oculomotor apraxia, Spasticity, Tremor, Gait ataxia, Dysmetria ORPHA:529665
Mitochondrial Dna Depletion Syndrome 11
Spinal rigidity, Ragged-red muscle fibers, Facial palsy, Kyphosis, Ptosis, Generalized amyotrophy... OMIM:615084
Arthrogryposis, Distal, Type 7
Ptosis, Arthrogryposis multiplex congenita, Distal arthrogryposis OMIM:158300
Mohr-Tranebjaerg Syndrome
Optic atrophy, Babinski sign, Oromandibular dystonia, Generalized dystonia, Inability to walk, Ap... ORPHA:52368
Birk-Landau-Perez Syndrome
Optic atrophy, Limb ataxia, Difficulty walking, Limb hypertonia, Facial hypotonia, Oculomotor apr... OMIM:617595
Parkinsonism-Dystonia 1, Infantile-Onset
Hypomimic face, Bradykinesia, Hypertonia, Hyperkinetic movements, Oromandibular dystonia, Oculogy... OMIM:613135
Spinocerebellar Ataxia Type 27
Limb ataxia, Akinesia, Difficulty walking, Truncal ataxia, Tremor, Gait disturbance, Gait ataxia,... ORPHA:98764
Postencephalitic Parkinsonism
Bradykinesia, Bilateral ptosis, Babinski sign, Akinesia, Oculogyric crisis, Resting tremor, Tremo... ORPHA:97349
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Lower limb amyotrophy, Fasciculations, Upper limb muscle weakness, Congenital finger flexion cont... ORPHA:466768
Inherited Creutzfeldt-Jakob Disease
Bradykinesia, Babinski sign, Progressive cerebellar ataxia, Spastic dysarthria, Spastic hemipares... ORPHA:282166
Lethal Congenital Contracture Syndrome 1
Widening of cervical spinal canal, Hypoplasia of the musculature, Neonatal death, Skeletal muscle... OMIM:253310
Epilepsy, Familial Adult Myoclonic, 2
Enhancement of the C-reflex, Tremor, Blepharospasm, Ataxia, Giant somatosensory evoked potentials... OMIM:607876
Congenital Myopathy 5 With Cardiomyopathy
Calf muscle hypertrophy, Scoliosis, Ptosis, Centrally nucleated skeletal muscle fibers, Joint con... OMIM:611705
Sialidosis Type 1
Decreased nerve conduction velocity, Abnormal form of the vertebral bodies, Scoliosis, Tremor, Ky... ORPHA:812
Proteus Syndrome
Kyphoscoliosis, Ptosis, Downslanted palpebral fissures, Spinal canal stenosis, Limbal dermoid, Sp... OMIM:176920
Spinocerebellar Ataxia 42
Spastic gait, Babinski sign, Impaired vibration sensation at ankles, Tremor, Ataxia, Spastic atax... OMIM:616795
Arthrogryposis, Distal, Type 2B3
Scoliosis, Ptosis, Downslanted palpebral fissures, Camptodactyly OMIM:618436
Amyloidosis, Hereditary, Transthyretin-Related
Limb ataxia, Paraplegia, Truncal ataxia, Spasticity, Tremor, Positive Romberg sign, Abnormal auto... OMIM:105210
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Hypertonia, Scoliosis, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:1390
Combined Oxidative Phosphorylation Deficiency 20
Ptosis, Hypertonia, Left ventricular noncompaction, Ataxia OMIM:615917
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Distal sensory impairment, Facial diplegia, Ptosis, Ataxia, Skeletal muscle atroph... OMIM:613559
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis, Spasticity, Spastic tetraparesis OMIM:616154
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Apraxia, Abnormal upper motor neuron morphology, Spasticity, Gait disturbance, Myo... OMIM:221770
Sclerosteosis
Optic atrophy, Ptosis, Facial palsy ORPHA:3152
Coffin-Siris Syndrome 8
Ptosis, Scoliosis, Thick eyebrow, Long eyelashes OMIM:618362
Classic Progressive Supranuclear Palsy Syndrome
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Progressive extrapyramidal muscular rigid... ORPHA:240071
Congenital Multicore Myopathy With External Ophthalmoplegia
Internally nucleated skeletal muscle fibers, Muscular dystrophy, Tibialis anterior muscle atrophy... ORPHA:98905
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Spasticity, Scapular winging, Gait disturbance, Spasti... ORPHA:98673
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Oculomotor apraxia, Ptosis, Dystonia, Ataxia, Generalized dystonia, Choreoat... OMIM:245348
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ragged-red muscle fibers, Ptosis, Rhabdomyolysis, Skeletal muscle atrophy OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Babinski sign, Ptosis, Dystonia, Ataxia OMIM:618226
Synaptic Congenital Myasthenic Syndromes
Bilateral ptosis, Abnormal synaptic transmission at the neuromuscular junction, Scoliosis, Scapul... ORPHA:98915
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hypertonia, Inability to walk, Facial hypotonia, Scoliosis, Spasticity, Ptosis, Downslanted palpe... OMIM:616801
Wieacker-Wolff Syndrome, Female-Restricted
Inability to walk, Oculomotor apraxia, Scoliosis, Spasticity, Facial palsy, Kyphosis, Ptosis, Hip... OMIM:301041
Warburg Micro Syndrome 1
Optic atrophy, Ptosis, Kyphoscoliosis, Spastic diplegia OMIM:600118
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Bradykinesia, Hemiballismus, Hypertonia, Inability to walk, Truncal ataxia, Spasticity, Tremor, G... OMIM:618877
X-Linked Dystonia-Parkinsonism
Bradykinesia, Difficulty walking, Resting tremor, Torsion dystonia, Chorea, Parkinsonism with fav... ORPHA:53351
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:502430
Myopathy, Myofibrillar, 8
Spinal rigidity, Central core regions in muscle fibers, Joint contracture of the 5th finger, Scol... OMIM:617258
Neuropathy, Congenital Hypomyelinating, 3
Hypomimic face, Babinski sign, Spasticity, Facial diplegia, Ptosis, Neonatal death, Limb joint co... OMIM:618186
Schwartz-Jampel Syndrome, Type 1
Kyphoscoliosis, Flexion contracture of toe, Shoulder flexion contracture, Skeletal muscle hypertr... OMIM:255800
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Atrophy/Degeneration involving the spinal cord, Positive Romberg sign, Impaired distal vibration ... OMIM:607459
Arthrogryposis, Distal, Type 5
Hypertonia, Firm muscles, Scoliosis, Congenital finger flexion contractures, Kyphosis, Ptosis, De... OMIM:108145
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Hypertonia, Spasticity, Long eyelashes, Ptosis, Flexion contracture, Optic disc pallor OMIM:619076
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
Hyperphenylalaninemia, Bh4-Deficient, A
Bradykinesia, Hypertonia, Limb hypertonia, Tremor, Rigidity, Dystonia, Ataxia, Parkinsonism, Chor... OMIM:261640
Developmental And Epileptic Encephalopathy 42
Hypertonia, Tremor, Athetosis, Ataxia, Flexion contracture OMIM:617106
Neurodegeneration With Brain Iron Accumulation 5
Bradykinesia, Akinesia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dystonia,... OMIM:300894
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Babinski sign, Hypertonia, Chorea, Spasticity, Cerebral palsy, Ptosis, Dystonia, Choreoathetosis OMIM:618451
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Bilateral ptosis, Difficulty walking, Scoliosis, Spinal muscular atrophy, Skeletal muscle atrophy... ORPHA:254875
Myopathy, Mitochondrial, And Ataxia
Limb ataxia, Difficulty walking, Distal sensory impairment, Inability to walk, Truncal ataxia, Sc... OMIM:617675
Developmental Delay And Seizures With Or Without Movement Abnormalities
Bradykinesia, Tremor, Rigidity, Dystonia, Ataxia OMIM:617836
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Babinski sign, Spasticity, Spastic tetraparesis, Gait disturbance, Ptosis, Ataxia, Loss of ambula... OMIM:615838
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Optic atrophy, Hypertonia, Limb hypertonia, Tremor, Athetosis, Generalized amyotrophy, Dystonia, ... OMIM:617710
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Fatigable weakness of skeletal muscles, Ptosis, Weakness of facial musculature OMIM:616324
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ptosis, Decreased nerve conduction velocity, Ataxia, Skeletal muscle atrophy ORPHA:1933
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Tremor, EMG: myopathic abnormalities, Ptosis, Downslanted palpebral fissures ORPHA:457365
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Optic atrophy, Spasticity, Tremor, Dysdiadochokinesis, Gait ataxia, Intention tremor, Dystonia, A... OMIM:614381
Joubert Syndrome
Aganglionic megacolon, Oculomotor apraxia, Abnormal form of the vertebral bodies, Highly arched e... ORPHA:475
Retinal Dystrophy With Leukodystrophy
Bilateral ptosis, Truncal titubation, Falls, Waddling gait, Dysmetria OMIM:618863
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Scoliosis, Hyperlordosis, Kyphosis, Synophrys, Ptosis, Downslanted palpebral fissu... OMIM:615761
Non-Distal Deletion 10Q
Gait disturbance, Synophrys, Ptosis, Ataxia, Epicanthus, Upslanted palpebral fissure ORPHA:1581
Myasthenic Syndrome, Congenital, 20, Presynaptic
Fatigable weakness, Scoliosis, Facial palsy, Kyphosis, Ptosis, Skeletal muscle atrophy, Arthrogry... OMIM:617143
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Increased muscle glycogen content, Difficulty walking, Progressive cerebellar ataxia, Weakness of... ORPHA:502423
Congenital Myasthenic Syndrome
Kyphoscoliosis, Tip-toe gait, Distal lower limb muscle weakness, Spinal rigidity, Difficulty walk... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Kyphoscoliosis, Tip-toe gait, Distal lower limb muscle weakness, Spinal rigidity, Difficulty walk... ORPHA:98914
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Kyphoscoliosis, Lower limb spasticity, Broad-based gait, Resting tremor, Tremor, Shuffling gait, ... ORPHA:3077
Leigh Syndrome
Optic atrophy, Spasticity, Ptosis, Dystonia, Ataxia OMIM:256000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis, Ataxia, Dysmetria, Broad-based gait OMIM:618098
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Spina bifida occulta, Optic nerve hypoplasia, Scoliosis, Ptosis, Downslanted palpebral fissures OMIM:618736
Mcdonough Syndrome
Short palpebral fissure, Scoliosis, Kyphosis, Synophrys, Ptosis, Aplasia/Hypoplasia of the abdomi... ORPHA:2471
Parkinson Disease 14, Autosomal Recessive
Hypomimic face, Pill-rolling tremor, Eyelid myoclonus, Bradykinesia, Axial dystonia, Resting trem... OMIM:612953
Cerebral Creatine Deficiency Syndrome 2
Hypertonia, Lower limb spasticity, Tremor, Paraparesis, Progressive extrapyramidal movement disor... OMIM:612736
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Superior rectus atrophy, Facial palsy, Wrist flexion contracture, Levator palpebrae superioris at... OMIM:600638
Spinocerebellar Ataxia 47
Chorea, Spasticity, Ptosis, Ataxia, Dysmetria OMIM:617931
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Episodic ataxia, Ptosis, Dystonia, Myoclonus, Choreoathetosis OMIM:312170
Distal Duplication 15Q
Hypertonia, Congenital muscular torticollis, Ptosis, Downslanted palpebral fissures, Camptodactyl... ORPHA:1707
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Hyperkinetic movements, Inability to walk, Loss of ability to walk in early childhood, Spasticity... OMIM:612073
Pyruvate Dehydrogenase Deficiency
Spasticity, Tremor, Cerebral palsy, Gait disturbance, Dystonia, Ataxia, Epicanthus, Abnormal pyra... ORPHA:765
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Oculomotor apraxia, Highly arched eyebrow, Scoliosis, Tremor, Gait disturb... ORPHA:220497
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis ORPHA:126
Multiple System Atrophy 1, Susceptibility To
Bradykinesia, Babinski sign, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system p... OMIM:146500
X-Linked Creatine Transporter Deficiency
Hypertonia, Aganglionic megacolon, Chorea, Athetosis, Ptosis, Dystonia, Ataxia ORPHA:52503
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Type 1 muscle fiber predominance, Shoulder flexion contracture, Tremor, Nemaline bodies, Hip cont... OMIM:605355
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Babinski sign, Tongue fasciculations, Intention tremor, Ptosis, Ataxia, Dysmetria OMIM:618170
Severe Neurodegenerative Syndrome With Lipodystrophy
Spasticity, Tremor, Poor motor coordination, Limb dystonia, Gait ataxia, Ataxia, Myoclonus, Abnor... ORPHA:363400
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Frequent falls, Long eyelashes, Ptosis, Downslanted palpebra... OMIM:617523
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis, Spasticity, Ataxia, Myoclonus OMIM:618225
Leukoencephalopathy With Ataxia
Limb ataxia, Action tremor, Optic neuropathy, Gait ataxia OMIM:615651
Spastic Paraplegia 9B, Autosomal Recessive
Babinski sign, Tetraplegia, Tremor, Spasticity, Impaired distal vibration sensation, Gait disturb... OMIM:616586
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Bradykinesia, Rigidity, Tremor, Parkinsonism with favorable response to dopaminergic medication OMIM:610297
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Stillbirth, Ankle flexion contracture, Elbow flexion contracture, Scapular winging, Camptodactyly... OMIM:617468
Houge-Janssens Syndrome 1
Facial hypotonia, Congenital muscular torticollis, Scoliosis, Gait ataxia, Ptosis, Downslanted pa... OMIM:616355
Spinocerebellar Ataxia, Autosomal Recessive 30
Tremor, Titubation, Unsteady gait, Ataxia, Dysmetria OMIM:619405
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis, Scoliosis, Torticollis OMIM:618155
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Abnormal vertebral morphology, Oculomotor apraxia, Highly arched eyebrow, ... ORPHA:220493
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Telecanthus, Ptosis, Sparse eyebrow, Dystonia, Thick eyebrow, Epicanthus OMIM:617268
Arachnoid Cyst
Distal sensory impairment, Inability to walk, Paresthesia, Facial palsy, Sciatica, Gait disturban... ORPHA:2356
Proximal Xq28 Duplication Syndrome
Ptosis, Gait disturbance, Blepharophimosis, Epicanthus ORPHA:1762
Dystonia 13, Torsion, Autosomal Dominant
Oromandibular dystonia, Torticollis, Writer's cramp, Torsion dystonia, Tremor, Blepharospasm, Lim... OMIM:607671
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Parkinsonism-Dystonia 3, Childhood-Onset
Hypertonia, Hyperkinetic movements, Chorea, Tremor, Action tremor, Dystonia, Ataxia, Parkinsonism OMIM:619738
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Oculomotor apraxia, Spasticity, Tremor, Poor motor coordination, Gait ataxia, Ataxia, Dysmetria ORPHA:1170
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Atrophy/Degeneration involving the spinal cord, Ragged-red muscle fibers, Positive Romberg sign, ... ORPHA:70595
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Ptosis, Abnormal mitochondria in muscle tissue ORPHA:663
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Ptosis, Scoliosis, Epicanthus ORPHA:1825
4Q21 Microdeletion Syndrome
Scoliosis, Tremor, Kyphosis, Synophrys, Long eyelashes, Ptosis, Short neck ORPHA:238750
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Leukoencephalopathy With Calcifications And Cysts
Spasticity, Tremor, Gait disturbance, Dystonia, Ataxia, Abnormal pyramidal sign ORPHA:542310
Microcephalic Primordial Dwarfism, Montreal Type
Hypertonia, Scoliosis, Vertebral segmentation defect, Kyphosis, Ptosis ORPHA:2617
Progressive Non-Fluent Aphasia
Abnormality of extrapyramidal motor function, Abnormal lower motor neuron morphology, Parkinsonis... ORPHA:100070
Tay-Sachs Disease
Fasciculations, Incoordination, Decerebrate rigidity, Quadriceps muscle atrophy, Myoclonus, Clums... ORPHA:845
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Spinal rigidity, Ragged-red muscle fibers, Kyphosis, Ptosis, Generalized amyotrophy, Weakness of ... ORPHA:352447
Parkinson Disease 20, Early-Onset
Bradykinesia, Tremor, Shuffling gait, Gait disturbance, Leg muscle stiffness, Involuntary movemen... OMIM:615530
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Intention tremor, Myoclonus OMIM:610539
Japanese Encephalitis
Pill-rolling tremor, Distal lower limb muscle weakness, Hypertonia, Paralysis, Hyperintensity of ... ORPHA:79139
Amish Nemaline Myopathy
Shoulder flexion contracture, Tremor, EMG: myopathic abnormalities, Hip contracture, Proximal amy... ORPHA:98902
Parkinson Disease, Late-Onset
Bradykinesia, Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Dys... OMIM:168600
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Babinski sign, Chorea, Spasticity, Synophrys, Ptosis, Dystonia, Opisthot... OMIM:618792
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, Nemaline bodies, Ptosis, Thoracolumbar scoliosis, Flexion contra... OMIM:616549
Alexander Disease
Chorea, Scoliosis, Hyperlordosis, Facial palsy, Abnormal autonomic nervous system physiology, Kyp... ORPHA:58
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Downslanted palpebral fissures, Thick e... OMIM:300590
Leukodystrophy, Hypomyelinating, 11
Spasticity, Tremor, Ataxia, Myoclonus OMIM:616494
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Eyelid myoclonus, Oculomotor apraxia, Spina bifida occulta, Incoordination, Tremor, Ataxia, Abnor... OMIM:618060
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Incoordination, Camptodactyly, Horizontal eyebrow, Ptosis, Ataxia, Epicanthus, Arthrogryposis-lik... ORPHA:369891
Parkinson Disease 17
Bradykinesia, Akinesia, Resting tremor, Tremor, Rigidity, Parkinsonism OMIM:614203
Trisomy 5P
Ptosis, Scoliosis ORPHA:1742
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Tremor, EMG: myopathic abnormalities, Increased variability ... ORPHA:397744
Isolated Atp Synthase Deficiency
Optic atrophy, Tetraplegia, Spastic paraplegia, Ptosis, Dystonia, Ataxia ORPHA:254913
Joubert Syndrome 8
Hypertonia, Oculomotor apraxia, Ptosis, Ataxia, Optic disc pallor OMIM:612291
Joubert Syndrome 35
Oculomotor apraxia, Telecanthus, Highly arched eyebrow, Synophrys, Ptosis, Ataxia OMIM:618161
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis, Congenital finger flexion contractures ORPHA:1154
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Muscular dystrophy, Generalized limb muscle atrophy, Hypertonia, Hypoglycosylation of alpha-dystr... OMIM:615351
Waardenburg Syndrome Type 1
Aganglionic megacolon, Telecanthus, Scoliosis, Synophrys, Spina bifida, Ptosis, Thick eyebrow, Wh... ORPHA:894
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Hypertonia, Truncal titubation, Limb hypertonia, Tremor, Exaggerated startle response, Gait ataxi... OMIM:618056
Arthrogryposis, Distal, Type 3
Kyphoscoliosis, Scoliosis, Camptodactyly of toe, Ptosis, Camptodactyly of finger, Decreased muscl... OMIM:114300
Ring Chromosome 1 Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:1437
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Oculogyric crisis, Limb hypertonia, Tremor, Ptosis, Joint contracture, Dystonia ORPHA:35708
Gerstmann-Straussler Disease
Bradykinesia, Limb ataxia, Apraxia, Truncal ataxia, Spasticity, Tremor, Gait ataxia, Rigidity, Pa... OMIM:137440
9Q21.13 Microdeletion Syndrome
Syringomyelia, Difficulty walking, Scoliosis, Vertebral segmentation defect, Long palpebral fissu... ORPHA:531151
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Spastic tetraparesis, Gait disturbance, Skeletal muscle steatosis, Ptosis, Ataxia,... ORPHA:436271
Mosaic Trisomy 14
Camptodactyly of finger, Ptosis, Short neck, Blepharophimosis ORPHA:1703
Warburg Micro Syndrome 4
Optic atrophy, Babinski sign, Inability to walk, Ptosis, Decreased muscle mass, Flexion contractu... OMIM:615663
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ragged-red muscle fibers, EMG: myopathic abnormalities, Gait disturbance, Limb muscle weakness, S... OMIM:609286
Joubert Syndrome 7
Ptosis, Scoliosis, Ataxia, Oculomotor apraxia OMIM:611560
Intellectual Developmental Disorder With Autism And Macrocephaly
Clumsiness, Ptosis, Downslanted palpebral fissures OMIM:615032
Spinocerebellar Ataxia Type 21
Akinesia, Progressive cerebellar ataxia, Abnormality of extrapyramidal motor function, Tremor, Ga... ORPHA:98773
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Ptosis, Epicanthus ORPHA:1373
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Ptosis, Short-segment aganglionic megacolon OMIM:619465
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Ataxia, Myopathy, Gait ataxia OMIM:613077
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Kyphoscoliosis, Bilateral ptosis, Torticollis, Oculomotor apraxia, Inability to walk, Optic nerve... ORPHA:300570
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scoliosis, Tremor, Scapular winging, Kyphosis, Synophrys, Ptosis, Downslanted palpebral fissures,... OMIM:617061
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Inability to walk, Lower limb spasticity, Facial hypotonia, Chorea, Progressive spasticity, Ptosi... OMIM:300260
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Hyperkinetic movements, Difficulty walking, Inability to walk, Chorea, Scoliosis, Hyperlordosis, ... OMIM:615356
Ververi-Brady Syndrome
Scoliosis, Intention tremor, Ptosis, Unsteady gait, Upslanted palpebral fissure OMIM:617982
Cardiofaciocutaneous Syndrome 4
Telecanthus, Optic nerve hypoplasia, Scoliosis, Absent eyebrow, Sparse eyelashes, Ptosis, Epicanthus OMIM:615280
Combined Oxidative Phosphorylation Deficiency 58
Optic atrophy, Difficulty walking, Appendicular spasticity, Ragged-red muscle fibers, Exaggerated... OMIM:620451
Adult Intestinal Botulism
Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:178487
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Synophrys, Ptosis, Thick eyebrow, Blepharophimosis OMIM:210745
Parkinson-Dementia Syndrome
Kyphoscoliosis, Tremor, Rigidity, Parkinsonism, Abnormal pyramidal sign OMIM:260540
Autosomal Dominant Spastic Paraplegia Type 9A
Spastic gait, Babinski sign, Spastic dysarthria, Abnormality of pain sensation, Falls, Impaired v... ORPHA:447753
Proximal 16P11.2 Microduplication Syndrome
Congenital diaphragmatic hernia, Scoliosis, Hemivertebrae, Tremor, Sparse eyelashes, Sparse eyebrow ORPHA:370079
Arthrogryposis, Distal, Type 2A
Kyphoscoliosis, Flexion contracture of toe, Telecanthus, Spina bifida occulta, Shoulder flexion c... OMIM:193700
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis, Abnormal sacrum morphology, Abnormal form of the vertebral bodies ORPHA:93262
Coach Syndrome 3
Ptosis, Ataxia, Oculomotor apraxia OMIM:619113
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Telecanthus, Lower limb spasticity, Optic nerve hypoplasia, Scoliosis, Facial pals... ORPHA:261349
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Thick eyebrow, Epicanthus ORPHA:444002
Aromatic L-Amino Acid Decarboxylase Deficiency
Babinski sign, Torticollis, Oculogyric crisis, Limb hypertonia, Athetosis, Blepharospasm, Limb dy... OMIM:608643
Parkinson Disease 23, Autosomal Recessive Early-Onset
Akinesia, Resting tremor, Spasticity, Abnormal autonomic nervous system physiology, Limb dystonia... OMIM:616840
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Waardenburg Syndrome Type 2
Ptosis, Aganglionic megacolon, Telecanthus ORPHA:895
Ophthalmoplegia, External, And Myopia
Ptosis, Spina bifida OMIM:311000
Diabetes And Deafness, Maternally Inherited
Ptosis, Unsteady gait OMIM:520000
Multiple Pterygium Syndrome, Escobar Variant
Congenital diaphragmatic hernia, Bilateral ptosis, Kyphosis, Axillary pterygium, Pterygium, Scoli... OMIM:265000
X-Linked Intellectual Disability Due To Gria3 Mutations
Babinski sign, Facial hypotonia, Scoliosis, Spasticity, Kyphosis, Ptosis, Pain insensitivity, Myo... ORPHA:364028
Gm1 Gangliosidosis
Optic atrophy, Generalized dystonia, Abnormal form of the vertebral bodies, Abnormality of extrap... ORPHA:354
Myasthenic Syndrome, Congenital, 24, Presynaptic
Oculomotor apraxia, Camptodactyly, Ptosis, Distal arthrogryposis, Knee flexion contracture OMIM:618198
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Spina bifida ... ORPHA:2990
Terminal Osseous Dysplasia
Telecanthus, Camptodactyly of toe, Ptosis, Camptodactyly of finger, Epicanthus, Multiple joint co... OMIM:300244
Wagr Syndrome
Dysfunction of lateral corticospinal tracts, Ptosis, Scoliosis ORPHA:893
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Difficulty walking, Spasticity, Waddling gait, Ptosis, Rhabdomyolysis, Limb-girdle... OMIM:251900
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Scoliosis, Synophrys, Sparse eyelashes, Long eyelashes, Ptosis, Sparse eye... OMIM:619293
Char Syndrome
Highly arched eyebrow, Ptosis, Thick eyebrow OMIM:169100
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Hypertonia, Elbow flexion contracture, Exaggerated startle response, Long eyelashe... OMIM:617301
Wolfram Syndrome 1
Optic atrophy, Ptosis, Tremor, Ataxia OMIM:222300
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ragged-red muscle fibers, Spasticity, Ptosis, Skeletal muscle atrophy, Weakness of... OMIM:616239
O'Sullivan-Mcleod Syndrome
Fasciculations, Tremor, Atrophy of the spinal cord, Upper limb muscle weakness, Hand muscle weakn... ORPHA:99965
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Hyperkinetic movements, Highly arched eyebrow, Gait disturbance, Long palpebral fissure, Ptosis OMIM:620469
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Ptosis, Thick eyebrow, Upslanted palpebral fissure, Chorea OMIM:620535
Legius Syndrome
Ptosis, Downslanted palpebral fissures, Short neck, Epicanthus OMIM:611431
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Scoliosis, Long eyelashes, Ptosis, Thick eyebrow, Macroglossia OMIM:614608
Freeman-Sheldon Syndrome
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Scoliosis ORPHA:2053
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis, Skeletal muscle atrophy ORPHA:2013
Microphthalmia, Syndromic 13
Kyphoscoliosis, Ptosis OMIM:300915
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Difficulty walking, Calf muscle hypertrophy, Abnormality... ORPHA:169189
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Joint contracture of the 5th finger, Scoliosis, Gait disturbance, Synophrys, Ptosis, Downslanted ... OMIM:620098
Oculopharyngodistal Myopathy 1
Bilateral ptosis, Difficulty walking, Distal amyotrophy, Rimmed vacuoles, Autophagic vacuoles, Fa... OMIM:164310
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Highly arched eyebrow, Spasticity, Synophrys, Ptosis, Epicanthus, Upslanted palpeb... OMIM:613792
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Babinski sign, Spasticity, Tremor, Spastic paraplegia, Ataxia, Dysmetria, Optic disc pallor OMIM:618527
Chromosome 2P16.1-P15 Deletion Syndrome
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Optic nerve hypoplasia, Spasticity, Camptod... OMIM:612513
Sandifer Syndrome
Abnormal posturing, Torticollis, Decreased cervical spine mobility ORPHA:71272
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Ptosis, Epicanthus ORPHA:2958
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Fused cervical vertebrae, Hyperlordosis, Kyphosis, Ptosis, Short neck, Spinal cord compression ORPHA:2522
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hyperlordosis, Facial palsy, Ptosis, Downslanted palpebral fissures, Skeletal muscle atrophy, Abn... ORPHA:3068
Myasthenic Syndrome, Congenital, 22
Ptosis, Waddling gait OMIM:616224
Aceruloplasminemia
Limb ataxia, Akinesia, Torticollis, Chorea, Tremor, Blepharospasm, Craniofacial dystonia, Gait at... ORPHA:48818
Autosomal Dominant Progressive External Ophthalmoplegia
Facial diplegia, Gait ataxia, Rigidity, Ataxia, Left ventricular hypertrophy, Quadriceps muscle w... ORPHA:254892
Richieri-Costa/Guion-Almeida Syndrome
Spina bifida occulta, Gait ataxia, Ptosis, Downslanted palpebral fissures, Eyelid coloboma OMIM:268850
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Cervical spinal canal stenosis, Multiple pterygia, Spondylolisthesis, Scolio... OMIM:178110
Arthrogryposis, Distal, Type 12
Ankle flexion contracture, Spinal rigidity, Scoliosis, Thoracic kyphosis, Congenital finger flexi... OMIM:620545
Neurodegeneration With Brain Iron Accumulation 1
Optic atrophy, Babinski sign, Bradykinesia, Akinesia, Abnormality of extrapyramidal motor functio... OMIM:234200
Prieto Syndrome
Ptosis, Epicanthus OMIM:309610
Bickerstaff Brainstem Encephalitis
Babinski sign, Impaired proprioception, Abnormal cranial nerve morphology, Tetraplegia, Dysesthes... ORPHA:79138
Foxp1 Syndrome
Oromotor apraxia, Spasticity, Ptosis, Downslanted palpebral fissures, Flexion contracture, Blepha... ORPHA:391372
Shashi-Pena Syndrome
Cervical C2/C3 vertebral fusion, Limb hypertonia, Highly arched eyebrow, Scoliosis, Kyphosis, Syn... OMIM:617190
Joubert Syndrome 3
Oculomotor apraxia, Highly arched eyebrow, Ptosis, Ataxia, Epicanthus OMIM:608629
Cerebral Creatine Deficiency Syndrome 1
Hypertonia, Aganglionic megacolon, Broad-based gait, Spasticity, Gait disturbance, Speech apraxia... OMIM:300352
Arthrogryposis Multiplex Congenita 5
Kyphoscoliosis, Hypertonia, Hand tremor, Akinesia, Scoliosis, Elbow flexion contracture, Camptoda... OMIM:618947
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Ragged-red muscle fibers, Ptosis, Decreased muscle m... ORPHA:298
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscle... OMIM:135700
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Highly arched eyebrow, Scoliosis, Ptosis, Ataxia ORPHA:2318
Joubert Syndrome 26
Ptosis OMIM:616784
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Facial palsy, Clonus, Ptosis, Type 1 fibers relatively smaller than type 2 fibers OMIM:619424
Crouzon Syndrome
Optic atrophy, Ptosis, Abnormal sacrum morphology, Conjunctivitis ORPHA:207
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Ptosis, Generalized amyotrophy OMIM:613561
Unilateral Polymicrogyria
Abnormal posturing, Poor fine motor coordination, Involuntary movements, Hemiparesis, Giant somat... ORPHA:268943
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Cervical spinal canal stenosis, Inability to walk by childhood/adolescence, Torticollis, Telecant... OMIM:620224
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Telecanthus, Ankle clonus, Highly arched eyebrow, Scoliosis, Elbow flexion contrac... OMIM:613776
Takenouchi-Kosaki Syndrome
Optic atrophy, Highly arched eyebrow, Scoliosis, Camptodactyly, Synophrys, Ptosis, Downslanted pa... OMIM:616737
Chromosome 3Q13.31 Deletion Syndrome
Ptosis, Downslanted palpebral fissures, Kyphosis, Epicanthus OMIM:615433
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Posterior fusion of lumbosacral vertebrae, Sacral dimple, Abnormal form of the vertebral ... ORPHA:2064
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis, Short neck OMIM:300882
3Mc Syndrome
Caudal appendage, Telecanthus, Spina bifida occulta, Highly arched eyebrow, Scoliosis, Hyperlordo... ORPHA:293843
Angelman Syndrome
Optic atrophy, Inability to walk, Broad-based gait, Scoliosis, Tremor, Ptosis, Ataxia, Myoclonus,... ORPHA:72
Joubert Syndrome With Hepatic Defect
Oculomotor apraxia, Highly arched eyebrow, Scoliosis, Tremor, Gait disturbance, Ptosis, Ataxia, O... ORPHA:1454
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Aplasia/Hypoplasia of the vertebrae, Scoliosis, Ptosis, Posterior wedging of verte... ORPHA:168549
Progressive Supranuclear Palsy
Bradykinesia, Falls, Tremor, Blepharospasm, Abnormal synaptic transmission, Rigidity, Dystonia, U... ORPHA:683
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Ptosis, Blepharophimosis, Telecanthus OMIM:606772
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Short neck OMIM:614583
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Broad eyebrow, Scoliosis, Ptosis, Epicanthus, Blepharophimosis ORPHA:494344
Frontoocular Syndrome
Short palpebral fissure, Ptosis, Epicanthus, Upslanted palpebral fissure, Blepharophimosis OMIM:605321
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Iatrogenic Botulism
Ptosis, Diaphragmatic paralysis, Orthostatic hypotension, Cerebral palsy ORPHA:254509
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Ptosis, Spina bifida occulta, Epicanthus ORPHA:1185
Hypermanganesemia With Dystonia 1
Bradykinesia, Steppage gait, Abnormality of extrapyramidal motor function, Poor fine motor coordi... OMIM:613280
Dystonia 2, Torsion, Autosomal Recessive
Torsion dystonia, Tremor, Blepharospasm, Torticollis OMIM:224500
Fountain Syndrome
Spina bifida occulta, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Synophrys, Spin... ORPHA:3219
Joubert Syndrome 14
Optic atrophy, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Ataxia, Epicanthus OMIM:614424
Spinocerebellar Ataxia 8
Progressive cerebellar ataxia, Incoordination, Spasticity, Tremor, Abnormal pyramidal sign OMIM:608768
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Long eyelashes, Synophrys, Ptosis, Downslanted palpebral fissures, Speech ... OMIM:615009
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Facial hypotonia, Scoliosis, Ptosis, Downslanted palpebral fissures, Epicanthus, Upslanted palpeb... OMIM:618659
Chromosome Xq13 Duplication Syndrome
Short palpebral fissure, Medial flaring of the eyebrow, Highly arched eyebrow, Almond-shaped palp... OMIM:301069
Tetanus
Hypertonia, Tremor, Abnormal autonomic nervous system physiology, Rigidity, Opisthotonus, Spastic... ORPHA:3299
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Ptosis, Spasticity, Chorea OMIM:620149
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Spastic tetraparesis, Ptosis, Right ventricular hypertrophy, Myoclonus OMIM:614261
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Scoliosis, Tremor, Kyphosis, Synophrys, Camptodactyly of finger, Downslanted pa... ORPHA:85293
Coach Syndrome 1
Oculomotor apraxia, Spasticity, Ptosis, Dystonia, Ataxia, Optic disc pallor OMIM:216360
Intellectual Developmental Disorder, Autosomal Recessive 65
Contracture of the proximal interphalangeal joint of the 4th finger, Gait ataxia, Ptosis, Downsla... OMIM:618109
Refsum Disease, Classic
Ptosis, Ataxia, Somatic sensory dysfunction, Limb muscle weakness OMIM:266500
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Ptosis, Facial palsy, Long eyelashes OMIM:606407
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Scoliosis, Elbow flexion contracture, Hyperlordosis, Camptodactyly, Ptosis... OMIM:615065
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis, Progressive spasticity OMIM:619972
Li-Campeau Syndrome
Ptosis, Downslanted palpebral fissures, Thick eyebrow, Telecanthus OMIM:619189
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy, Weakness of facial musculature OMIM:616323
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus OMIM:619989
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Ptosis, Scoliosis OMIM:618731
Young-Onset Parkinson Disease
Bradykinesia, Gait imbalance, Spasticity, Tremor, Abnormal autonomic nervous system physiology, R... ORPHA:2828
Trisomy 17P
Hypertonia, Broad eyebrow, Scoliosis, Ptosis, Downslanted palpebral fissures, Flexion contracture... ORPHA:261290
Aarskog-Scott Syndrome
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck, Abnormal... ORPHA:915
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Short palpebral fissure, Telecanthus, Spina bifida occulta, Highly arched eyebrow, Scoliosis, Cam... OMIM:617360
Lateral Meningocele Syndrome
Syringomyelia, Dural ectasia, Telecanthus, Scoliosis, Tethered cord, Kyphosis, Biconcave vertebra... OMIM:130720
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Long palpebral fissure, Ptosis, Epicanthus, Short neck, Macroglossia OMIM:615668
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis ORPHA:44
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Inability to walk, Oculomotor apraxia, Ptosis, Ataxia OMIM:617563
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Congenital Disorder Of Glycosylation, Type Iio
Ptosis, Downslanted palpebral fissures, Skeletal muscle atrophy OMIM:616828
Gabriele-De Vries Syndrome
Tip-toe gait, Telecanthus, Facial hypotonia, Tremor, Waddling gait, Epiblepharon, Ptosis, Downsla... OMIM:617557
Migraine, Familial Hemiplegic, 2
Apraxia, Tremor, Episodic ataxia, Gait ataxia, Hemiparesis, Hemiplegia, Dysmetria OMIM:602481
Fetal Trimethadione Syndrome
Ptosis, Scoliosis, Epicanthus, Synophrys ORPHA:1913
Combined Oxidative Phosphorylation Deficiency 47
Platyspondyly, Ptosis, Short neck OMIM:618958
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Kyphosis, Long palpebral fissure, Ptosis, Skeletal muscle atrophy, Knee flexion contracture, Thor... OMIM:603387
Arthrogryposis, Distal, Type 1A
Scoliosis, Elbow flexion contracture, Camptodactyly, Ptosis, Hip contracture, Knee flexion contra... OMIM:108120
Cluster Headache, Familial
Ptosis OMIM:119915
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Scoliosis, Hyperlordosis ORPHA:2511
Miller Fisher Syndrome
Facial palsy, Ptosis, Ataxia, Tetraparesis, Paresthesia ORPHA:98919
Myasthenia Gravis
Ptosis, Facial palsy, Fatigable weakness, Limb muscle weakness OMIM:254200
Lateral Meningocele Syndrome
Syringomyelia, Dural ectasia, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Ky... ORPHA:2789
Myopathy With Lactic Acidosis, Hereditary
Bilateral ptosis, Difficulty walking, Frequent falls, Increased variability in muscle fiber diame... OMIM:255125
Cockayne Syndrome Type 1
Optic atrophy, Difficulty walking, Foot joint contracture, Lower limb spasticity, Scoliosis, Trem... ORPHA:90321
Tick-Borne Encephalitis
Fatigable weakness of respiratory muscles, Hyperkinetic movements, Abnormal glossopharyngeal nerv... ORPHA:297
Carey-Fineman-Ziter Syndrome
Aplasia of the pectoralis major muscle, Scoliosis, Facial palsy, Ptosis, Downslanted palpebral fi... ORPHA:1358
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Cervical C2/C3 vertebral fusion, Camptodactyly, Ptosis, Downslanted palpebral fissures, Blepharop... OMIM:617333
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Ptosis, Downslanted palpebral fissures, Unilateral narrow palpebral fissure ORPHA:3038
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Weakness of facial musculature, Truncal ataxia, Ptosis, Ataxia, Increased intramyo... OMIM:220110
Refsum Disease
Ptosis, Hemiplegia/hemiparesis, Ataxia, Skeletal muscle atrophy, Abnormal pyramidal sign ORPHA:773
Baraitser-Winter Cerebrofrontofacial Syndrome
Palpebral edema, Telecanthus, Highly arched eyebrow, Euryblepharon, Scoliosis, Long palpebral fis... ORPHA:2995
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Ptosis, Broad-based gait OMIM:609037
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Marden-Walker Syndrome
Scoliosis, Camptodactyly, Congenital contracture, Kyphosis, Ptosis, Decreased muscle mass, Epican... OMIM:248700
Abetalipoproteinemia
Kyphoscoliosis, Babinski sign, Distal lower limb muscle weakness, Impaired proprioception, Steppa... ORPHA:14
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Bilateral ptosis, Hyperkinetic movements, Inability to walk, Oculomotor apraxia, F... ORPHA:404454
Monosomy 18P
Kyphoscoliosis, Ptosis, Epicanthus, Generalized dystonia, Short neck ORPHA:1598
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Ptosis, Blepharophimosis, Telecanthus ORPHA:397973
3Mc Syndrome 2
Caudal appendage, Abnormal vertebral morphology, Torticollis, Abnormality of the vertebral column... OMIM:265050
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis, Ataxia OMIM:619046
Noonan Syndrome 11
Ptosis, Downslanted palpebral fissures OMIM:618499
Leigh Syndrome
Optic atrophy, Hyperkinetic movements, Abnormality of extrapyramidal motor function, Chorea, Spas... ORPHA:506
Carey-Fineman-Ziter Syndrome 1
Spinal rigidity, Pectoralis hypoplasia, Weakness of facial musculature, Hypoplasia of the muscula... OMIM:254940
Tetrasomy 12P
Telecanthus, Ptosis, Sparse eyebrow, Short neck, Upslanted palpebral fissure ORPHA:884
Native American Myopathy
Bilateral ptosis, Abnormality of skeletal muscle fiber size, Inability to walk, Camptodactyly, Co... ORPHA:168572
Joubert Syndrome 1
Oculomotor apraxia, Highly arched eyebrow, Hemifacial spasm, Ptosis, Ataxia, Optic disc coloboma,... OMIM:213300
Triosephosphate Isomerase Deficiency
Spasticity, Tremor, Kyphosis, Dystonia, Unsteady gait, Skeletal muscle atrophy, Myopathy, Optic d... OMIM:615512
Frontonasal Dysplasia 1
Pectoral muscle hypoplasia/aplasia, Camptodactyly, Ptosis, Epicanthus, Joint contracture of the hand OMIM:136760
Myasthenic Syndrome, Congenital, 19
Ptosis, Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Slanting of the palpebral fissure, Congenital ptosis, Scoliosis, Tremor, Kyphosis, Synophrys, Gai... ORPHA:476126
Juberg-Hayward Syndrome
Abnormal vertebral morphology, Highly arched eyebrow, Scoliosis, Ptosis, Abnormal eyebrow morphology ORPHA:2319
Ascher Syndrome
Ptosis, Abnormal eyelid morphology, Blepharophimosis, Upper eyelid edema ORPHA:1253
Alternating Hemiplegia Of Childhood
Paroxysmal dyskinesia, Oculomotor apraxia, Facial hypotonia, Chorea, Tremor, Abnormal autonomic n... ORPHA:2131
Congenital Disorder Of Deglycosylation 1
Decreased sensory nerve conduction velocity, Hyperkinetic movements, Facial hypotonia, Chorea, Sc... OMIM:615273
Metachromatic Leukodystrophy
Tip-toe gait, Decreased nerve conduction velocity, Incoordination, Decerebrate rigidity, Tremor, ... ORPHA:512
Intellectual Developmental Disorder, Autosomal Dominant 57
Tip-toe gait, Contracture of the proximal interphalangeal joint of the 4th finger, Telecanthus, S... OMIM:618050
Mucopolysaccharidosis, Type Ii
Kyphosis, Ptosis, Papilledema, Flexion contracture, Cervical cord compression, Short neck, Macrog... OMIM:309900
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Difficulty walking, EMG: myopathic abnormalities, Ptosis, Ataxia, Increased intramyoce... ORPHA:98907
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Scoliosis, Hyperlordosis, Vertebral segmentation defect, Camptodactyly of finger, Ptosis ORPHA:1323
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ptosis, Ataxia, Myoclonus OMIM:560000
Congenital Myopathy 13
Kyphoscoliosis, Short palpebral fissure, Telecanthus, Scoliosis, Ptosis, Downslanted palpebral fi... OMIM:255995
Coffin-Siris Syndrome 5
Ptosis, Thick eyebrow, Long eyelashes OMIM:616938
Craniosynostosis 3
Ptosis OMIM:615314
Codas Syndrome
Abnormal form of the vertebral bodies, Scoliosis, Ptosis, Coronal cleft vertebrae, Epicanthus ORPHA:1458
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Rhabdomyolysis, Tremor, Ataxia, Myopathy ORPHA:713
Hypotonia-Cystinuria Syndrome
Ptosis, Epicanthus ORPHA:163690
Distal Duplication 6P
Sacral dimple, Abnormal eyelash morphology, Ptosis, Short neck, Blepharophimosis ORPHA:1745
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Ptosis, Dystonia, Epicanthus, Lacrimal duct stenosis ORPHA:457193
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Syringomyelia, Abnormal vertebral morphology, Oculomotor apraxia, Highly arched eyebrow, Tethered... OMIM:616728
Perlman Syndrome
Ptosis, Epicanthus ORPHA:2849
Noonan Syndrome 13
Broad eyebrow, Highly arched eyebrow, Scoliosis, Almond-shaped palpebral fissure, Ptosis, Downsla... OMIM:619087
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse eyelashes, Ptosis, Downslanted palpebral fissures, ... OMIM:619075
Goldberg-Shprintzen Syndrome
Aganglionic megacolon, Telecanthus, Limb hypertonia, Highly arched eyebrow, Synophrys, Ptosis, Do... OMIM:609460
Joubert Syndrome 37
Ptosis, Oculomotor apraxia, Lumbar hyperlordosis OMIM:619185
Coffin-Siris Syndrome 2
Ptosis, Macroglossia, Thick eyebrow, Long eyelashes OMIM:614607
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Kyphoscoliosis, Vertebral compression fracture, Broad-based gait, Scoliosis, Synophrys, Ptosis, S... OMIM:309583
Noonan Syndrome 8
Ptosis, Downslanted palpebral fissures, Epicanthus, Left ventricular hypertrophy, Short neck OMIM:615355
Hartsfield Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus ORPHA:2117
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cervical spinal canal stenosis, Distal sensory impairment, Scoliosis, Hyperlordosis, Ptosis, Spin... OMIM:616007
Kury-Isidor Syndrome
Sacral dimple, Scoliosis, Ptosis, Downslanted palpebral fissures, Short neck OMIM:619762
Craniosynostosis 6
Ptosis, Scoliosis, Spina bifida occulta OMIM:616602
Adult-Onset Dystonia-Parkinsonism
Hypomimic face, Bradykinesia, Spasticity, Parkinsonism with favorable response to dopaminergic me... ORPHA:199351
Deafness, X-Linked 7
Ptosis, Thick eyebrow, Telecanthus OMIM:301018
Goldberg-Shprintzen Megacolon Syndrome
Ptosis, Sparse eyebrow, Aganglionic megacolon ORPHA:66629
Neurofibromatosis-Noonan Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:638
Schwartz-Jampel Syndrome
Spinal rigidity, Flexion contracture of toe, Hyperlordosis, Wrist flexion contracture, Kyphosis, ... ORPHA:800
Fetal Alcohol Syndrome
Congenital diaphragmatic hernia, Telecanthus, Vertebral segmentation defect, Ptosis, Epicanthus ORPHA:1915
Stickler Syndrome, Type Vi
Ptosis, Downslanted palpebral fissures OMIM:620022
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Telecanthus, Highly arched eyebrow, Absent eyelashes, Ptosis, Absent lacrimal punctum, Thick eyebrow ORPHA:228396
Frontofacionasal Dysplasia
Upper eyelid coloboma, Telecanthus, Limbal dermoid, Ptosis, Aplasia/Hypoplasia of the eyebrow, Ab... ORPHA:1791
Combined Oxidative Phosphorylation Deficiency 15
Optic atrophy, Incoordination, Tremor, Ataxia, Unsteady gait, Abnormal pyramidal sign, Optic disc... OMIM:614947
Ruvalcaba Syndrome
Abnormal vertebral epiphysis morphology, Scoliosis, Kyphosis, Ptosis, Downslanted palpebral fissures ORPHA:3121
Toxin-Mediated Infectious Botulism
Paralysis, Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:230800
Wolf-Hirschhorn Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Sacral dimple, Abnormal vertebral morphology, Abn... ORPHA:280
Saethre-Chotzen Syndrome
Optic atrophy, Abnormal form of the vertebral bodies, Scoliosis, Hyperlordosis, Blepharospasm, Pt... ORPHA:794
Infantile Sialic Acid Storage Disease
Ptosis, Epicanthus OMIM:269920
Holoprosencephaly
Congenital diaphragmatic hernia, Optic atrophy, Spinal cord tumor, Abnormal form of the vertebral... ORPHA:2162
Meckel Syndrome, Type 10
Sacral dimple, Camptodactyly, Ptosis, Epicanthus, Narrow palpebral fissure OMIM:614175
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ptosis, Ataxia OMIM:530000
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Optic atrophy, Abnormality of extrapyramidal motor function, Scoliosis, Tremor, Spasticity, Dysto... OMIM:612199
Basel-Vanagaite-Smirin-Yosef Syndrome
Difficulty walking, Inability to walk, Scoliosis, Spasticity, Kyphosis, Ptosis, Downslanted palpe... ORPHA:464738
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Beaking of vertebral bodies, Sacral dimple, Highly arched eyebrow, Scoliosis, Hemivertebrae, Gait... OMIM:213980
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Scoliosis, Vertebral segmentation defect, Kyphosis, Synophrys, Ptosis, D... ORPHA:251014
Rhyns Syndrome
Ptosis ORPHA:140976
Noonan Syndrome 4
Bilateral ptosis, Scoliosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, ... OMIM:610733
Hadziselimovic Syndrome
Ptosis, Epicanthus OMIM:612946
Isolated Complex I Deficiency
Abnormal mitochondria in muscle tissue, Optic neuropathy, Ptosis, Ataxia, Optic disc pallor ORPHA:2609
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Hypertonia, Oculomotor apraxia, Absent eyelashes, Scoliosis, Absent eyebro... OMIM:115150
Hoxha-Aliu Syndrome
Contracture of the proximal interphalangeal joint of the 4th finger, Sacral dimple, Increased ver... OMIM:620662
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Spasticity, Ptosis, Ataxia, Somatic sensory dysfunction OMIM:615510
Agel Amyloidosis
Bilateral ptosis, Facial palsy, Ataxia, Orthostatic hypotension due to autonomic dysfunction, Ble... ORPHA:85448
Short Stature And Facioauriculothoracic Malformations
Abnormal odontoid process morphology, Ptosis, Short neck OMIM:609654
Noonan Syndrome 5
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Short neck OMIM:611553
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Spastic paraplegia, Ptosis, Spasticity, Lower limb spasticity ORPHA:2824
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Bilateral ptosis, Flexion contracture of the 2nd finger, Joint contracture of the ... ORPHA:324540
Emanuel Syndrome
Congenital diaphragmatic hernia, Kyphoscoliosis, Sacral dimple, Hooded eyelid, Scoliosis, Ptosis,... ORPHA:96170
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures OMIM:615476
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Long palpebral fissure, Ptosis, Epicanthus, Short neck OMIM:243310
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Basel-Vanagaite-Smirin-Yosef Syndrome
Scoliosis, Spasticity, Kyphosis, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:616449
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Fused cervical vertebrae, Gait imbalance, Ptosis, Epicanthus, Upslanted ... OMIM:617159
Teebi Hypertelorism Syndrome 2
Ptosis, Thick eyebrow, Upper eyelid coloboma OMIM:619736
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Optic atrophy, Ptosis, Epicanthus OMIM:220500
Borjeson-Forssman-Lehmann Syndrome
Camptodactyly of toe, Ptosis, Thick eyebrow, Skeletal muscle atrophy, Blepharophimosis ORPHA:127
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Syringomyelia, Impaired pain sensation, Scoliosis, Vertebral segmentation defect, Abnormal autono... ORPHA:453499
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Galloway-Mowat Syndrome 1
Optic atrophy, Spasticity, Camptodactyly, Ptosis, Dystonia, Ataxia, Epicanthus, Spastic tetrapleg... OMIM:251300
Mitochondrial Complex I Deficiency, Nuclear Type 1
Babinski sign, Ragged-red muscle fibers, Tongue fasciculations, Spasticity, Optic neuropathy, Pto... OMIM:252010
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Jacobsen Syndrome
Optic atrophy, Telecanthus, Abnormal eyelash morphology, Spasticity, Ptosis, Flexion contracture,... OMIM:147791
22Q11.2 Duplication Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:1727
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Upslanted palpebral fissure, Synophrys OMIM:616083
Ehlers-Danlos Syndrome, Classic-Like, 2
Bilateral ptosis, Cervical C2/C3 vertebral fusion, Facet joint arthrosis, Ptosis, Thin eyebrow, T... OMIM:618000
Scarf Syndrome
Abnormal form of the vertebral bodies, Diastasis recti, Ptosis, Downslanted palpebral fissures, E... ORPHA:3134
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Ptosis, Myopathy, Fatigable weakness ORPHA:257
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Ptosis, Blepharophimosis, Epicanthus ORPHA:3236
Frias Syndrome
Ptosis, Downslanted palpebral fissures OMIM:609640
Noonan Syndrome 9
Ptosis, Downslanted palpebral fissures, Short neck, Sparse eyebrow OMIM:616559
Nail-Patella Syndrome
Quadriceps aplasia, Biceps aplasia, Scoliosis, Spina bifida, Ptosis, Back pain, Antecubital ptery... OMIM:161200
Phelan-Mcdermid Syndrome
Palpebral edema, Sacral dimple, Broad-based gait, Impaired pain sensation, Long eyelashes, Ptosis... OMIM:606232
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Vici Syndrome
Abnormal posturing, Ptosis, Epicanthus, Left ventricular hypertrophy, Myopathy OMIM:242840
Cardiofaciocutaneous Syndrome
Optic atrophy, Sparse or absent eyelashes, Abnormal eyelash morphology, Scoliosis, Long palpebral... ORPHA:1340
Weiss-Kruszka Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus, Left ventricular hyper... OMIM:618619
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Sparse lateral eyebrow, Ptosis, Downslanted palpebral fissures, Speech apraxia, Myoc... ORPHA:314655
Supranuclear Palsy, Progressive, 1
Bradykinesia, Akinesia, Gait imbalance, Axial dystonia, Retrocollis, Falls, Tremor, Limb dystonia... OMIM:601104
Koolen-De Vries Syndrome
Scoliosis, Vertebral segmentation defect, Kyphosis, Ptosis, Epicanthus, Upslanted palpebral fissu... ORPHA:96169
3Mc Syndrome 1
Caudal appendage, Sacral dimple, Telecanthus, Spina bifida occulta, Highly arched eyebrow, Diasta... OMIM:257920
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypertonia, Hyperkinetic movements, Ragged-red muscle fibers, Myoclonus, Ptosis, Rhabdomyolysis, ... ORPHA:17
Multiple Pterygium-Malignant Hyperthermia Syndrome
Congenital muscular torticollis, Scoliosis, Kyphosis, Ptosis, Downslanted palpebral fissures, Cam... ORPHA:2215
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Aplasia/Hypopla... ORPHA:1784
Keipert Syndrome
Ptosis, Epicanthus ORPHA:2662
Dworschak-Punetha Neurodevelopmental Syndrome
Sparse lateral eyebrow, Ptosis, Short neck OMIM:619955
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Aicardi-Goutières Syndrome
Hypertonia, Difficulty walking, Myositis, Abnormality of extrapyramidal motor function, Scoliosis... ORPHA:51
Chromosome 18P Deletion Syndrome
Hypomimic face, Ptosis, Dystonia, Epicanthus, Short neck OMIM:146390
X-Linked Intellectual Disability, Snyder Type
Kyphoscoliosis, Inability to walk, Camptodactyly, Synophrys, Kyphosis, Involuntary movements, Spa... ORPHA:3063
Myasthenia, Limb-Girdle, Autoimmune
Ptosis, Proximal amyotrophy, Fatigable weakness, Type 2 muscle fiber atrophy OMIM:159400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Giant Cell Arteritis
Optic atrophy, Ptosis, Ataxia, Paresthesia ORPHA:397
Koolen-De Vries Syndrome
Sacral dimple, Spondylolisthesis, Scoliosis, Kyphosis, Ptosis, Epicanthus, Hypotrophy of the smal... OMIM:610443
Oculocerebrocutaneous Syndrome
Congenital diaphragmatic hernia, Ptosis, Hemiplegia/hemiparesis, Eyelid coloboma ORPHA:1647
Combined Oxidative Phosphorylation Deficiency 12
Bradykinesia, Babinski sign, Ragged-red muscle fibers, Spastic tetraparesis, Ptosis, Dystonia OMIM:614924
Ataxia-Telangiectasia
Progressive cerebellar ataxia, Inability to walk, Dysdiadochokinesis, Tremor, Intention tremor, C... OMIM:208900
Cardiofaciocutaneous Syndrome 2
Ptosis, Absent eyebrow OMIM:615278
Glycogen Storage Disease Due To Acid Maltase Deficiency
Glycogen accumulation in muscle fiber lysosomes, Fatigable weakness of respiratory muscles, Diffi... ORPHA:365
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Scoliosis, Thoracolumbar scoliosis, Ptosis, Epicanthus, Platyspondyly, Short neck OMIM:616723
20Q11.2 Microduplication Syndrome
Palpebral edema, Sacral dimple, Lingual dystonia, Ptosis, Downslanted palpebral fissures, Epicant... ORPHA:363659
Distal Deletion 3P
Abnormal vestibulo-ocular reflex, Sacral dimple, Telecanthus, Spasticity, Ptosis, Epicanthus, Sho... ORPHA:1620
Muenke Syndrome
Ptosis, Downslanted palpebral fissures OMIM:602849
Kosaki Overgrowth Syndrome
Xanthelasma, Scoliosis, Ptosis, Downslanted palpebral fissures, Thoracolumbar scoliosis OMIM:616592
Acrocraniofacial Dysostosis
Spina bifida occulta, Telecanthus, Abnormal form of the vertebral bodies, Ptosis, Downslanted pal... ORPHA:949
Aarskog-Scott Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Hypoplasia of the odontoid process, Short neck... OMIM:305400
Cenani-Lenz Syndrome
Ectropion, Abnormal form of the vertebral bodies, Scoliosis, Ptosis, Downslanted palpebral fissures ORPHA:3258
Kaufman Oculocerebrofacial Syndrome
Telecanthus, Ptosis, Sparse eyebrow, Ovoid vertebral bodies, Epicanthus, Upslanted palpebral fiss... OMIM:244450
Cardiac-Valvular Ehlers-Danlos Syndrome
Kyphoscoliosis, Tendon thickening, Ptosis, Tendon rupture, Thoracolumbar scoliosis, Thick eyebrow... ORPHA:230851
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Sacral dimple, Ptosis, Downslanted palpebral fissures, Epicanthus, Narrow ... OMIM:613603
Reni Syndrome
Ptosis, Ataxia OMIM:617575
Myasthenic Syndrome, Congenital, 21, Presynaptic
Difficulty walking, Knee flexion contracture, Fatigable weakness of skeletal muscles, Ptosis, Wea... OMIM:617239
Pde4D Haploinsufficiency Syndrome
Caudal interpedicular narrowing, Long palpebral fissure, Ptosis, Irregular vertebral endplates, N... ORPHA:439822
Loeys-Dietz Syndrome 4
Torticollis, Spondylolisthesis, Dural ectasia, Scoliosis, Ptosis, Downslanted palpebral fissures OMIM:614816
Foodborne Botulism
Paralysis, Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:228371
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Bilateral ptosis, Bilateral camptodactyly, Scoliosis, Kyphosis, Synophrys, Epicanthus OMIM:619557
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Ptosis, Abnormal eyebrow morphology, Telecanthus ORPHA:2496
Ohdo Syndrome
Ptosis, Sparse eyebrow, Blepharophimosis, Epicanthus OMIM:249620
Wound Botulism
Ptosis, Diaphragmatic paralysis, Cerebral palsy ORPHA:178475
Kallmann Syndrome
Paraplegia, Tremor, Gait disturbance, Ptosis, Ataxia ORPHA:478
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Increased vertebral height, Thoracic kyphoscoliosis, Camptodactyly, Ptosis, Lumbar hyperlordosis OMIM:613385
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Scoliosis, Synophrys, Ptosis, Ataxia, Epicanthus inversus, Epicanthus OMIM:617062
Chilton-Okur-Chung Neurodevelopmental Syndrome
Bilateral ptosis, Limb hypertonia, Hooded eyelid, Highly arched eyebrow, Scoliosis, Septo-optic d... OMIM:619841
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Ptosis, Downslanted palpebral fissures, Telecanthus, Epicanthus ORPHA:1778
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Optic nerve hypoplasia, Scoliosis, Sparse lateral eyebrow, Ptosis, Downsla... OMIM:617506
Waardenburg Syndrome
Aganglionic megacolon, Telecanthus, Synophrys, Ptosis, Abnormal eyebrow morphology ORPHA:3440
Paroxysmal Hemicrania
Ptosis, Palpebral edema, Conjunctival hyperemia ORPHA:157835
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Scoliosis, Flexion contracture of the 2nd toe, Ptosis, Flexion contracture... ORPHA:2712
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ptosis, Facial palsy, Limb muscle weakness OMIM:610131
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Optic atrophy, Short palpebral fissure, Poor coordination, Scoliosis, Camptodactyly, Ptosis, Down... OMIM:309590
Duane Retraction Syndrome
Short palpebral fissure, Spina bifida occulta, Abnormal form of the vertebral bodies, Oculomotor ... ORPHA:233
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Highly arched eyebrow, Scoliosis, Camptodactyly, Synophrys, Ptosis, Downslanted pa... ORPHA:487796
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Hypertonia, Telecanthus, Scoliosis, Tethered cord, Ptosis, Joint contracture, Epic... OMIM:618164
Acrofrontofacionasal Dysostosis 2
Ptosis, Downslanted palpebral fissures, Sacral dimple OMIM:239710
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema ORPHA:1259
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Van Maldergem Syndrome 1
Short palpebral fissure, Sacral dimple, Scoliosis, Camptodactyly, Ptosis, Epicanthus, Blepharophi... OMIM:601390
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Ptosis, Congenital fib... ORPHA:45358
Scarf Syndrome
Abnormal form of the vertebral bodies, Diastasis recti, Ptosis, Downslanted palpebral fissures, E... OMIM:312830
Joubert Syndrome 21
Optic atrophy, Megalopapilla, Oculomotor apraxia, Ptosis, Ataxia OMIM:615636
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Ptosis, Downslanted palpebral fissures, Lacrimal duct stenosis, Sparse eyebrow ORPHA:73246
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Frontorhiny
Scoliosis, Camptodactyly of finger, Ptosis, Epicanthus, Lumbar hyperlordosis ORPHA:391474
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyelashes, Ptosis, Sparse eyebrow, Long palpebral fissure, Blepha... OMIM:613026
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Sparse lower eyelashes, Aplasia/Hypoplasia of the eyebrow... ORPHA:245
Koolen-De Vries Syndrome Due To A Point Mutation
Optic atrophy, Short palpebral fissure, Cervical spinal canal stenosis, Sacral dimple, Spondyloli... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Optic atrophy, Short palpebral fissure, Cervical spinal canal stenosis, Sacral dimple, Spondyloli... ORPHA:363958
Oculogastrointestinal Muscular Dystrophy
Ptosis, Skeletal muscle atrophy, Myopathy ORPHA:1876
Loeys-Dietz Syndrome 5
Kyphoscoliosis, Flexion contracture of toe, Spondylolisthesis, Scapular winging, Cervical spine i... OMIM:615582
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Limb ataxia, Hypertonia, Paralysis, Oculomotor apraxia, Broad-based gait, Scoliosis, Spastic para... ORPHA:2072
Pfeiffer Syndrome
Ptosis, Hyperlordosis, Short neck ORPHA:710
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Optic atrophy, Hypertonia, Curly eyelashes, Highly arched eyebro... OMIM:122470
Joubert Syndrome 30
Ptosis OMIM:617622
Buratti-Harel Syndrome
Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis, Epicanthus OMIM:619314
3Mc Syndrome 3
Sacral dimple, Highly arched eyebrow, Diastasis recti, Ptosis, Epicanthus inversus, Blepharophimosis OMIM:248340
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ptosis, Hypertonia, Blepharophimosis ORPHA:2031
Spondylodysplastic Ehlers-Danlos Syndrome
Beaking of vertebral bodies, Kyphoscoliosis, Abnormal vertebral morphology, Congenital kyphoscoli... ORPHA:536471
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck, Blepharo... ORPHA:284160
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Inability to walk, Impaired pain sensation, Optic nerve hypoplasia, Type 1 muscle fiber atrophy, ... ORPHA:453504
Intellectual Developmental Disorder, Autosomal Dominant 29
Short palpebral fissure, Hypertonia, Hyperlordosis, Synophrys, Ptosis, Downslanted palpebral fiss... OMIM:616078
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Inability to walk, Impaired pain sensation, Optic nerve hypoplasia, Type 1 muscle fiber atrophy, ... ORPHA:352665
Rubinstein-Taybi Syndrome
Telecanthus, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus, Nasolacri... ORPHA:783
Kbg Syndrome
Telecanthus, Thoracic kyphosis, Synophrys, Long palpebral fissure, Ptosis, Downslanted palpebral ... OMIM:148050
Noonan Syndrome 10
Scoliosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Left ventricular h... OMIM:616564
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Highly arched eyebrow, Laterally extended eyebrow, Synophrys, Long eyelashes, Ptos... OMIM:610759
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Moebius Syndrome
Aplasia of the pectoralis major muscle, Facial palsy, Blepharitis, Ptosis, Skeletal muscle atroph... ORPHA:570
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Camptodactyly, Ptosis, Downslanted palpebral fissures, Epicanthus, Short... OMIM:614230
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Beck-Fahrner Syndrome
Ptosis, Lacrimal duct stenosis, Facial hypotonia OMIM:618798
Multiple Synostoses Syndrome 1
Waddling gait, Ptosis, Spinal canal stenosis, Hypoplastic spinal processes, Upslanted palpebral f... OMIM:186500
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Ptosis, Downslanted palpebral fissures ORPHA:1555
Acrofrontofacionasal Dysostosis 1
Optic atrophy, S-shaped palpebral fissures, Long eyebrows, Long eyelashes, Ptosis OMIM:201180
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Ptosis, Downslanted palpebral fissures, Hemiparesis, Thick eyebrow, Epicanthus,... ORPHA:369950
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Optic atrophy, Hypertonia, Abnormal eyelash morphology, Abnormal nasolacrimal system morphology, ... ORPHA:2526
X-Linked Mandibulofacial Dysostosis
Ptosis, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the eyebrow ORPHA:1131
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Spinal arachnoid cyst, Ptosis, Conjunctivitis ORPHA:33001
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Ptosis, Epicanthus, Long eyelashes, Broad lateral eyebrow OMIM:608624
Au-Kline Syndrome
Syringomyelia, Sacral dimple, Vertebral segmentation defect, Shallow orbits, Sparse lateral eyebr... OMIM:616580
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, C1-C2 vertebral abnormality, Scoliosis, Camptodactyly, Shallow orbits, Ptosis, Downs... OMIM:182212
Van Maldergem Syndrome 2
Short palpebral fissure, Sacral dimple, Scoliosis, Ptosis, Epicanthus, Narrow palpebral fissure, ... OMIM:615546
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:619493
Cohen-Gibson Syndrome
Scoliosis, Camptodactyly, Gait disturbance, Ptosis, Downslanted palpebral fissures, Flexion contr... OMIM:617561
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Oculomotor apraxia, Spasticity, Tremor, Frequent falls, Dystonia, Ataxia, Chor... OMIM:612716
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Scoliosis, Hemivertebrae, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:104350
Kabuki Syndrome
Congenital diaphragmatic hernia, Butterfly vertebrae, Abnormal form of the vertebral bodies, High... ORPHA:2322
Inhalational Botulism
Paralysis, Ptosis ORPHA:254504
Trichohepatoneurodevelopmental Syndrome
Ectropion, Scoliosis, Almond-shaped palpebral fissure, Synophrys, Ptosis, Long eyelashes, Distal ... OMIM:618268
Orthostatic Hypotension 1
Ptosis, Orthostatic hypotension, Weakness of facial musculature OMIM:223360
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Scoliosis, Diastasis recti, Ptosis, Hooded upper eyelid OMIM:618548
Cdags Syndrome
Ectropion, Kyphosis, Sparse eyelashes, Ptosis, Sparse eyebrow OMIM:603116
Proboscis Lateralis
Orbital cyst, Abnormal nasolacrimal system morphology, Abnormality of the ocular adnexa, Optic ne... ORPHA:141099
Helsmoortel-Van Der Aa Syndrome
Bilateral ptosis, Short palpebral fissure, Scoliosis, Hyperlordosis, Facial palsy, Ptosis, Downsl... OMIM:615873
Aase-Smith Syndrome I
Ptosis, Flexion contracture OMIM:147800
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Ptosis, Congenital bilateral ptosis ORPHA:73272
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Ectropion, S-shaped palpebral fissures, Abnormal lacrimal duct morphology, Lacrimal gland aplasia... ORPHA:572333
Smith-Lemli-Opitz Syndrome
Congenital diaphragmatic hernia, Optic atrophy, Hypertonia, Aganglionic megacolon, Abnormal form ... ORPHA:818
Arboleda-Tham Syndrome
Optic atrophy, Gait imbalance, Highly arched eyebrow, Lower limb amyotrophy, Ptosis, Conjunctivit... OMIM:616268
Infant Botulism
Ptosis, Cerebral palsy, Keratoconjunctivitis sicca ORPHA:178478
Marden-Walker Syndrome
Short palpebral fissure, Muscular dystrophy, Abnormal form of the vertebral bodies, Scoliosis, Ap... ORPHA:2461
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Epicanthus inversus ORPHA:2988
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Telecanthus, Ptosis, Short neck, Blepharophimosis OMIM:217980
Ohdo Syndrome, X-Linked
Scoliosis, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus, Blepharophimosis OMIM:300895
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Ptosis, Scoliosis, Skeletal muscle atrophy, Kyphosis ORPHA:1969
Glycogen Storage Disease Xii
Muscle fiber splitting, Ptosis, Increased variability in muscle fiber diameter, Epicanthus, Short... OMIM:611881
Shprintzen-Goldberg Syndrome
Telecanthus, Abnormal form of the vertebral bodies, Scoliosis, Camptodactyly of finger, Ptosis, D... ORPHA:2462
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Aganglionic megacolon, Vertebral segmentation defect, Ptosis, Optic disc... ORPHA:959
Autosomal Recessive Robinow Syndrome
Sacral dimple, Scoliosis, Vertebral segmentation defect, Kyphosis, Long eyelashes, Long palpebral... ORPHA:1507
Autosomal Dominant Robinow Syndrome
Sacral dimple, Curly eyelashes, Abnormal form of the vertebral bodies, Euryblepharon, Scoliosis, ... ORPHA:3107
Lathosterolosis
Abnormal thoracic spine morphology, Ptosis, Downslanted palpebral fissures, Epicanthus, Myoclonus ORPHA:46059
Gabriele-De Vries Syndrome
Telecanthus, Facial hypotonia, Tremor, Waddling gait, Ptosis, Downslanted palpebral fissures, Spa... ORPHA:506358
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Codas Syndrome
Scoliosis, Ptosis, Lumbar scoliosis, Hypoplasia of the odontoid process, Coronal cleft vertebrae,... OMIM:600373
Char Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:46627
Robinow Syndrome, Autosomal Recessive 1
Hypoplastic sacrum, Sacral dimple, Scoliosis, Hemivertebrae, Camptodactyly, Long eyelashes, Long ... OMIM:268310
African Trypanosomiasis
Somatic sensory dysfunction, Impaired proprioception, Akinesia, Difficulty walking, Myelitis, Fas... ORPHA:3385
Fetal Hydantoin Syndrome
Ptosis, Epicanthus ORPHA:1912
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Finger joint contracture OMIM:212112
Fetal Akinesia Deformation Sequence 1
Short palpebral fissure, Stillbirth, Telecanthus, Wrist flexion contracture, Congenital contractu... OMIM:208150
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Ptosis, Epicanthus inversus, Narrow palpebral fissure, Blepha... OMIM:110100
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Highly arched eyebrow, Ptosis, Short palpebral fissure, Long eyelashes OMIM:615866
Phosphoribosylpyrophosphate Synthetase Superactivity
Ptosis, Downslanted palpebral fissures, Ataxia, Epicanthus OMIM:300661
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Facial hypotonia, Camptodactyly, Synophrys, Cervical C5/C6 vertebrae fusion, Ptosi... OMIM:613458
Combined Oxidative Phosphorylation Deficiency 33
Ptosis, Myopathy, Left ventricular hypertrophy OMIM:617713
Acrofacial Dysostosis, Cincinnati Type
Syringomyelia, Upper eyelid coloboma, Lower limb spasticity, Pterygium, Scoliosis, Myoclonus, Voc... OMIM:616462
Noonan Syndrome With Multiple Lentigines
Spina bifida occulta, Scoliosis, Scapular winging, Ptosis, Aplasia/Hypoplasia of the abdominal wa... ORPHA:500
Congenital Myopathy 17
Telecanthus, Ptosis, Downslanted palpebral fissures, Distal arthrogryposis, Diaphragmatic eventra... OMIM:618975
Wiedemann-Steiner Syndrome
Short palpebral fissure, Sacral dimple, Telecanthus, Synophrys, Long eyelashes, Ptosis, Thick eye... ORPHA:319182
Dubowitz Syndrome
Sacral dimple, Telecanthus, Spina bifida occulta, Scoliosis, Sparse lateral eyebrow, Ptosis, Epic... ORPHA:235
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Telecanthus, Broad-based gait, Highly arched eyebrow, Camptodactyly, Gait ataxia, Sparse lateral ... OMIM:280000
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis, Scoliosis, Skeletal muscle atrophy OMIM:615895
Pachydermoperiostosis
Ptosis, Scoliosis, Cerebral palsy, Impaired temperature sensation ORPHA:2796
Beare-Stevenson Cutis Gyrata Syndrome
Optic atrophy, Ptosis, Downslanted palpebral fissures OMIM:123790
Jacobsen Syndrome
Ectropion, Abnormal form of the vertebral bodies, Scoliosis, Spina bifida, Ptosis, Downslanted pa... ORPHA:2308
Lymphedema-Hypoparathyroidism Syndrome
Ptosis, Telecanthus OMIM:247410
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Ptosis, Upslanted palpebral fissure OMIM:619758
Menke-Hennekam Syndrome 1
Short palpebral fissure, Telecanthus, Scoliosis, Tethered cord, Long eyelashes, Ptosis, Downslant... OMIM:618332
Tyshchenko Syndrome
Ptosis OMIM:615102
Cerebrooculonasal Syndrome
Optic nerve hypoplasia, Sparse eyelashes, Ptosis, Sparse eyebrow, Epicanthus OMIM:605627
Arima Syndrome
Optic atrophy, Ptosis, Ataxia OMIM:243910
Myasthenia Gravis
Myositis, Ptosis, Paresthesia ORPHA:589
Lymphedema-Distichiasis Syndrome
Ectropion, Kyphosis, Distichiasis, Ptosis, Conjunctivitis OMIM:153400
22Q11.2 Deletion Syndrome
Optic atrophy, Aganglionic megacolon, Telecanthus, Abnormal eyelid morphology, Scoliosis, Spina b... ORPHA:567
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Spina bifida occulta, Highly arched eyebrow, Incoordination, Scoliosis, Long eyela... OMIM:180849
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Hunter-Macdonald Syndrome
Short palpebral fissure, Scoliosis, Camptodactyly, Ptosis, Upslanted palpebral fissure, Blepharop... OMIM:611962
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Ptosis OMIM:300845
Prolidase Deficiency
Ptosis OMIM:170100
Muenke Syndrome
Ptosis ORPHA:53271
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Distal sensory impairment, Ragged-red muscle fibers, Distal amyotrophy, Ptosis, Hypoesthesia OMIM:603041
Xia-Gibbs Syndrome
Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure OMIM:615829
Cree Mental Retardation Syndrome
Ptosis, Downslanted palpebral fissures OMIM:606851
Teebi-Shaltout Syndrome
Caudal appendage, Telecanthus, Highly arched eyebrow, Camptodactyly, Ptosis OMIM:272950
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ragged-red muscle fibers, Spasticity, Ptosis, Rhabdomyolysis, Neonatal death, Ataxia OMIM:124000
Branchio-Oculo-Facial Syndrome
Ptosis, Upslanted palpebral fissure, Nasolacrimal duct obstruction ORPHA:1297
Fanconi Anemia
Short palpebral fissure, Aganglionic megacolon, Abnormal eyelid morphology, Scoliosis, Almond-sha... ORPHA:84
Dubowitz Syndrome
Short palpebral fissure, Sacral dimple, Telecanthus, Sparse lateral eyebrow, Ptosis, Epicanthus, ... OMIM:223370
Lathosterolosis
Ptosis, Lumbosacral meningocele, Epicanthus, Butterfly vertebrae OMIM:607330
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Ptosis, Blepharophimosis, Telecanthus, Long eyelashes OMIM:604314
Myhre Syndrome
Short palpebral fissure, Skeletal muscle hypertrophy, Ptosis, Platyspondyly, Blepharophimosis ORPHA:2588
17Q24.2 Microdeletion Syndrome
Scoliosis, Synophrys, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Short neck ORPHA:529962
Microphthalmia/Coloboma 9
Ptosis, Narrow palpebral fissure OMIM:615145
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Ptosis, Flexion contracture OMIM:309520
Rhyns Syndrome
Ptosis OMIM:602152
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Short palpebral fissure, Sacral dimple, Tethered cord, Ptosis, Optic disc coloboma, Epicanthus, S... OMIM:617157
14Q22Q23 Microdeletion Syndrome
Ptosis, Downslanted palpebral fissures, Optic nerve aplasia, Epicanthus ORPHA:264200
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Popliteal pterygium, Torticollis, Ptosis, Antecubital pterygium, Epicanthus, Knee flexion contrac... OMIM:609945
Leopard Syndrome 1
Kyphoscoliosis, Spina bifida occulta, Scapular winging, Ptosis, Epicanthus, Short neck OMIM:151100
Erdheim-Chester Disease
Xanthelasma, Ptosis, Ataxia ORPHA:35687
Aniridia 1
Bilateral ptosis, Optic nerve hypoplasia, Ptosis OMIM:106210
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Skin Creases, Congenital Symmetric Circumferential, 2
Short palpebral fissure, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus, Short nec... OMIM:616734
Intestinal Botulism
Ptosis ORPHA:178481
Coffin-Siris Syndrome 4
Scoliosis, Long eyelashes, Ptosis, Thick eyebrow, Macroglossia OMIM:614609
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Kyphoscoliosis, Ptosis, Downslanted palpebral fissures, Epicanthus, Platyspondyly, Progressive co... OMIM:225400
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Noonan Syndrome 2
Telecanthus, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Distal arthrogryposis, Epica... OMIM:605275
Neurofibromatosis-Noonan Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Short neck, Epicanthus, Lisch nodules OMIM:601321
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Hyperlordosis, Synophrys, Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:301066
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Ptosis, Hemiplegia ORPHA:3217
Rapp-Hodgkin Syndrome
Sparse eyelashes, Ptosis, Absent lacrimal punctum, Sparse eyebrow OMIM:129400
Opitz Gbbb Syndrome
Congenital diaphragmatic hernia, Telecanthus, Vertebral segmentation defect, Ptosis, Downslanted ... ORPHA:2745
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis, Pseudopapilledema OMIM:146255
Acromelic Frontonasal Dysplasia
Ptosis, Telecanthus ORPHA:1827
Frontofacionasal Dysplasia
S-shaped palpebral fissures, Telecanthus, Ptosis, Eyelid coloboma, Absent inner eyelashes, Blepha... OMIM:229400
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Distichiasis, Ptosis, Conjunctivitis, Lacrimal punctal atresia ORPHA:91416
Charge Syndrome
Optic atrophy, Highly arched eyebrow, Abnormal cranial nerve morphology, Scoliosis, Hemivertebrae... ORPHA:138
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Abnormal vertebral morphology, Cervical C2/C3 vertebral fusion, Highly arched eyebrow, Synophrys,... ORPHA:444077
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Ptosis, Blepharophimosis ORPHA:2728
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Joubert Syndrome 5
Ptosis, Ataxia, Oculomotor apraxia OMIM:610188
Coffin-Siris Syndrome 1
Congenital diaphragmatic hernia, Sacral dimple, Spina bifida occulta, Scoliosis, Kyphosis, Long e... OMIM:135900
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Downslanted palpebral fissures, Sacral dimple, Eyelid coloboma ORPHA:2211
Neuroocular Syndrome
Sacral dimple, Highly arched eyebrow, Scapular winging, Distichiasis, Long eyelashes, Synophrys, ... OMIM:619539
Tukel Syndrome
Ptosis, Congenital fibrosis of extraocular muscles OMIM:609428
Cardiospondylocarpofacial Syndrome
Congenital diaphragmatic hernia, Fused cervical vertebrae, Telecanthus, Scoliosis, Ptosis, Epican... OMIM:157800
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis OMIM:615453
Phace Syndrome
Ptosis, Optic nerve hypoplasia, Abnormality of the orbital region, Hemiplegia/hemiparesis ORPHA:42775
Wagro Syndrome
Ptosis, Downslanted palpebral fissures OMIM:612469
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Long eyelashes, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck OMIM:607721
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Pectoral muscle hypoplasia/aplasia, Sparse eyelashes, Ptosis, Sparse eyebrow, Camptodactyly of fi... ORPHA:306542
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Ptosis, Camptodactyly ORPHA:228426
Wolf-Hirschhorn Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Highly arched eyebrow, Scoliosis, Tethered ... OMIM:194190
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck OMIM:613563
Genitourinary And/Or Brain Malformation Syndrome
Kyphoscoliosis, Short palpebral fissure, Ptosis, Epicanthus inversus, Epicanthus, Upslanted palpe... OMIM:618820
Costello Syndrome
Rhabdomyosarcoma, Ptosis, Downslanted palpebral fissures, Achilles tendon contracture, Epicanthus... OMIM:218040
Six2-Related Frontonasal Dysplasia
Ptosis, Epicanthus inversus ORPHA:488437
Monosomy 22Q13.3
Palpebral edema, Sacral dimple, Impaired pain sensation, Long eyelashes, Ptosis, Thick eyebrow, E... ORPHA:48652
Good Syndrome
Ptosis, Fatigable weakness ORPHA:169105
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Optic atrophy, Kyphoscoliosis, Ptosis, Lower limb hypertonia, Epicanthus, Short neck, Macroglossi... OMIM:309580
Zygomycosis
Abnormal cranial nerve morphology, Ptosis, Chemosis ORPHA:73263
Primrose Syndrome
Distal amyotrophy, Kyphosis, Synophrys, Ptosis, Downslanted palpebral fissures, Hip contracture, ... OMIM:259050
Microphthalmia, Syndromic 2
Contracture of the proximal interphalangeal joint of the 2nd toe, Scoliosis, Ptosis, Thick eyebro... OMIM:300166
Acromelic Frontonasal Dysostosis
Ptosis, Downslanted palpebral fissures, Optic nerve hypoplasia, Telecanthus OMIM:603671
Loeys-Dietz Syndrome 1
Spondylolisthesis, Dural ectasia, Hypoplasia of the musculature, Scoliosis, Cervical spine instab... OMIM:609192
Hypermobile Ehlers-Danlos Syndrome
Decreased nerve conduction velocity, Scoliosis, Abnormal autonomic nervous system physiology, Pto... ORPHA:285
Lacrimoauriculodentodigital Syndrome
Abnormal lacrimal duct morphology, Hypoplasia of the lacrimal punctum, Lacrimal gland aplasia, Sc... ORPHA:2363
Thrombocytopenia-Absent Radius Syndrome
Syringomyelia, Fused cervical vertebrae, Shoulder muscle hypoplasia, Spina bifida, Ptosis OMIM:274000
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Ptosis OMIM:614231
Kabuki Syndrome 1
Bilateral ptosis, Abnormal vertebral morphology, Highly arched eyebrow, Scoliosis, Long palpebral... OMIM:147920
Malignant Atrophic Papulosis
Ptosis, Pain insensitivity ORPHA:679
Cornelia De Lange Syndrome
Congenital diaphragmatic hernia, Hypertonia, Curly eyelashes, Highly arched eyebrow, Synophrys, L... ORPHA:199
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Non-Functioning Pituitary Adenoma
Ptosis ORPHA:91349
Degcags Syndrome
Sacral dimple, Abnormal eyelash morphology, Vocal cord paralysis, Synophrys, Long eyelashes, Ptos... OMIM:619488
Coffin-Siris Syndrome
Ptosis, Scoliosis, Prominent eyelashes, Thick eyebrow ORPHA:1465
Noonan Syndrome
Scoliosis, Ptosis, Downslanted palpebral fissures, Aplasia/Hypoplasia of the abdominal wall muscu... ORPHA:648
Primary Hepatic Neuroendocrine Carcinoma
Ptosis ORPHA:100085
Neurofaciodigitorenal Syndrome
Ptosis, Downslanted palpebral fissures, Epicanthus ORPHA:2673
Smith-Lemli-Opitz Syndrome
Hypertonia, Aganglionic megacolon, Sacral dimple, Ptosis, Epicanthus OMIM:270400
Ayme-Gripp Syndrome
Broad eyebrow, Camptodactyly, Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure OMIM:601088
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Butterfly vertebrae, Aganglionic megacolon, Hydromyelia, Absent eyelashes, Scoliosis, Absent eyeb... OMIM:308205
Holoprosencephaly 9
Optic nerve hypoplasia, Ptosis, Absent lacrimal punctum, Epicanthus, Short neck OMIM:610829
Faciocardiomelic Syndrome
Ptosis, Short eyelashes, Cuboid-shaped vertebral bodies, Telecanthus OMIM:612731
Treacher Collins Syndrome 1
Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lowe... OMIM:154500
Mesomelia-Synostoses Syndrome
Ptosis, Downslanted palpebral fissures, Abnormal vertebral morphology, Telecanthus OMIM:600383
Intellectual Developmental Disorder, Autosomal Dominant 68
Ptosis, Epicanthus, Joint contracture of the 5th finger OMIM:619934
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Highly arched eyebrow, Ptosis, Short neck ORPHA:2282
Pituitary Apoplexy
Ptosis ORPHA:95613
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Pallister-Killian Syndrome
Congenital diaphragmatic hernia, Stillbirth, Kyphoscoliosis, Sacral dimple, Hypertonia, Inability... OMIM:601803
Branchiooculofacial Syndrome
Telecanthus, Elbow flexion contracture, Facial palsy, Hyperlordosis, Kyphosis, Ptosis, Short neck... OMIM:113620
Noonan Syndrome 3
Ptosis, Downslanted palpebral fissures, Epicanthus OMIM:609942
Prolactinoma
Ptosis ORPHA:2965
Trichorhinophalangeal Syndrome, Type Ii
Scoliosis, Scapular winging, Thoracolumbar scoliosis, Ptosis, Lumbar scoliosis, Thick eyebrow, He... OMIM:150230
Okamoto Syndrome
Syringomyelia, Scoliosis, Tethered cord, Long palpebral fissure, Ptosis ORPHA:2729
Tsh-Secreting Pituitary Adenoma
Ptosis, Periodic hypokalemic paresis, Tremor ORPHA:91347
Holoprosencephaly 4
Ptosis OMIM:142946
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Pearson Syndrome
Ptosis, Ataxia ORPHA:699
Diamond-Blackfan Anemia
Ptosis, Abnormality of the thenar eminence, Short neck, Epicanthus ORPHA:124
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Trichiasis, Syringomyelia, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Abnorma... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Trichiasis, Syringomyelia, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Abnorma... ORPHA:353277
Chime Syndrome
Ptosis, Upslanted palpebral fissure, Epicanthus ORPHA:3474
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Meckel Syndrome, Type 1
Camptodactyly of finger, Ptosis, Short neck, Epicanthus inversus OMIM:249000
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Optic atrophy, Aganglionic megacolon, Broad eyebrow, Telecanthus, Broad-based gait, Highly arched... ORPHA:261552
Monosomy 13Q14
Ptosis, Short neck, Epicanthus ORPHA:1587
Singleton-Merten Syndrome 1
Scoliosis, Waddling gait, Ptosis, Muscle fiber atrophy, Tendon rupture OMIM:182250
Turner Syndrome Due To Structural X Chromosome Anomalies
Scoliosis, Neck pterygia, Kyphosis, Ptosis, Epicanthus, Short neck ORPHA:99413
Mosaic Monosomy X
Scoliosis, Neck pterygia, Kyphosis, Ptosis, Epicanthus, Short neck ORPHA:99228
Monosomy X
Scoliosis, Neck pterygia, Kyphosis, Ptosis, Epicanthus, Short neck ORPHA:99226
Turner Syndrome
Scoliosis, Neck pterygia, Kyphosis, Ptosis, Epicanthus, Short neck ORPHA:881
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Ptosis, Difficulty walking OMIM:618748
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Aganglionic megacolon, Broad eyebrow, Telecanthus, Broad-based gait, Inability to walk, Impaired ... ORPHA:261537
Microphthalmia, Syndromic 1
Kyphoscoliosis, Aganglionic megacolon, Scoliosis, Camptodactyly, Ptosis, Spastic diplegia, Optic ... OMIM:309800
Proteus Syndrome
Retinal hamartoma, Abnormal form of the vertebral bodies, Scoliosis, Kyphosis, Myofibrillar myopa... ORPHA:744
Autosomal Dominant Cutis Laxa
Ptosis, Scoliosis, Abnormal curvature of the vertebral column ORPHA:90348
Noonan Syndrome 1
Kyphoscoliosis, Ptosis, Downslanted palpebral fissures, Epicanthus, Short neck OMIM:163950
Mowat-Wilson Syndrome
Aganglionic megacolon, Broad eyebrow, Ptosis, Downslanted palpebral fissures, Generalized muscle ... OMIM:235730
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Thick eyebrow ORPHA:1519
Peters-Plus Syndrome
Scoliosis, Hemivertebrae, Diastasis recti, Ptosis, Short neck, Narrow palpebral fissure, Upslante... OMIM:261540
Viss Syndrome
Ectropion, Butterfly vertebrae, Contracture of the proximal interphalangeal joint of the 2nd toe,... OMIM:619472
Charge Syndrome
Scoliosis, Hemivertebrae, Facial palsy, Ptosis, Downslanted palpebral fissures OMIM:214800
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Kawasaki Disease
Conjunctival hyperemia, Ptosis, Conjunctivitis ORPHA:2331
Craniofacial Microsomia 1
Upper eyelid coloboma, Scoliosis, Hemivertebrae, Vertebral hypoplasia, Ptosis, Block vertebrae, H... OMIM:164210
Pallister-Hall Syndrome
Ptosis, Downslanted palpebral fissures, Hemivertebrae, Distal arthrogryposis ORPHA:672
Saethre-Chotzen Syndrome
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits OMIM:101400
Vascular Ehlers-Danlos Syndrome
Telecanthus, Abnormal eyelash morphology, Aplasia/Hypoplasia of the abdominal wall musculature, H... ORPHA:286
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Ptosis OMIM:161700

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 Egr3

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 Egr3.

No publications found that use IMPC mice or data for Egr3.

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MGI Allele Allele Type Produced
Egr3tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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