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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
Ataxia, Scoliosis OMIM:176250
Scoliosis, Isolated, Susceptibility To, 1
Scoliosis OMIM:181800
Optic Atrophy 2
Tremor, Dysdiadochokinesis, Babinski sign, Optic atrophy OMIM:311050
Myasthenic Syndrome, Congenital, 18
Ataxia, Knee flexion contracture, Fatigable weakness, Difficulty walking, Ptosis OMIM:616330
Myasthenic Syndrome, Congenital, 15
Multiple joint contractures, Fatigable weakness, Difficulty walking, Frequent falls, Ptosis OMIM:616227
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... OMIM:607684
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Unsteady gait, Abnormal pyra... ORPHA:95434
Spinocerebellar Ataxia 43
Ataxia, Tremor, Rigidity, Limb ataxia, Gait ataxia, Distal sensory impairment, Distal amyotrophy OMIM:617018
Lower Motor Neuron Syndrome With Late-Adult Onset
Proximal muscle weakness in upper limbs, Tremor, Inability to walk, Ragged-red muscle fibers, Imp... ORPHA:276435
X-Linked Charcot-Marie-Tooth Disease Type 1
Distal lower limb amyotrophy, Ataxia, Impaired pain sensation, Tremor, Kyphosis, Distal upper lim... ORPHA:101075
Episodic Ataxia, Type 1
Incoordination, Tremor, Babinski sign, Slurred speech, Episodic ataxia, Spastic gait OMIM:160120
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Muscle fiber tubular inclusions, Scoliosis, Ptosis OMIM:614750
Dystonia 1, Torsion, Autosomal Dominant
Torticollis, Multiple joint contractures, Generalized dystonia, Facial palsy, Writer's cramp, Hyp... OMIM:128100
X-Linked Charcot-Marie-Tooth Disease Type 3
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Somatic sensory dysfunct... ORPHA:101077
Autosomal Dominant Spastic Ataxia Type 1
Spastic ataxia, Lower limb spasticity, Dystonia, Abnormal eyelid morphology, Tremor, Babinski sig... ORPHA:251282
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Decreased motor nerve conduction velocity, Impaired vibratory sensation, Impaired temperature sen... DECIPHER:29
Oculopharyngeal Muscular Dystrophy 1
Facial palsy, Gait disturbance, Progressive ptosis, Limb muscle weakness, Ptosis OMIM:164300
Congenital Arthrogryposis With Anterior Horn Cell Disease
Skeletal muscle atrophy, Dystonia, Abnormal anterior horn cell morphology, Short neck, Paucity of... OMIM:611890
Juvenile Primary Lateral Sclerosis
Skeletal muscle atrophy, Spastic tetraparesis, Abnormal pyramidal sign, Spastic dysarthria, Gait ... ORPHA:247604
Cerebellar Hypoplasia/Atrophy, Epilepsy, And Global Developmental Delay
Tremor, Ataxia, Scoliosis OMIM:213000
Myasthenic Syndrome, Congenital, 17
Difficulty walking, Type 1 muscle fiber predominance, Ptosis OMIM:616304
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 3
Tremor, Slurred speech, Ataxia, Cerebellar ataxia associated with quadrupedal gait OMIM:613227
Spastic Ataxia 1, Autosomal Dominant
Spastic ataxia, Spastic paraplegia, Leg muscle stiffness, Gait disturbance, Dystonia, Ptosis OMIM:108600
X-Linked Charcot-Marie-Tooth Disease Type 4
Skeletal muscle atrophy, Ataxia, Impaired pain sensation, Decreased nerve conduction velocity, Tr... ORPHA:101078
Dystonia 31
Generalized dystonia, Writer's cramp, Parkinsonism, Leg dystonia, Arm dystonia, Difficulty walkin... OMIM:619565
Roussy-Lévy Syndrome
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Impaired vibratory sensation,... ORPHA:3115
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology, Waddling gait, Spinal muscular atrophy, Hyperlordosis, Sc... OMIM:611067
Leukoencephalopathy With Brainstem And Spinal Cord Involvement And Lactate Elevation
Skeletal muscle atrophy, Ataxia, Tremor, Babinski sign, Flexion contracture, Spasticity OMIM:611105
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology, Hand muscle atrophy, Hand muscle weakness, Vocal cord par... OMIM:607641
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Claw hand deformity, Par... OMIM:605285
Spondylocostal Dysostosis 6, Autosomal Recessive
Cervical kyphosis, Hemivertebrae, Spinal canal stenosis, Scoliosis, Butterfly vertebrae OMIM:616566
Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2A2A
Decreased motor nerve conduction velocity, Tremor, Flexion contracture, Optic atrophy, Babinski s... OMIM:609260
Congenital Myasthenic Syndromes With Glycosylation Defect
Waddling gait, Scapular winging, Abnormal peripheral nervous system synaptic transmission, Lumbar... ORPHA:353327
Amyotrophic Lateral Sclerosis 2, Juvenile
Hand muscle atrophy, Skeletal muscle atrophy, Clonus, Opisthotonus, Spastic dysarthria, Hypertoni... OMIM:205100
Leukoencephalopathy, Brain Calcifications, And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Abnormality of extrapyramidal motor fu... OMIM:614561
Sandhoff Disease, Adult Form
Tremor, Gait ataxia, Upper limb muscle weakness, Proximal muscle weakness in lower limbs, Focal d... ORPHA:309169
Segawa Syndrome, Autosomal Recessive
Parkinsonism, Tremor, Rigidity, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclo... OMIM:605407
Spinal Muscular Atrophy, Jokela Type
Skeletal muscle atrophy, Spinal muscular atrophy, Tremor, Distal sensory impairment, Calf muscle ... OMIM:615048
Spinal Muscular Atrophy, Late-Onset, Finkel Type
Spinal muscular atrophy, Tremor, Proximal amyotrophy, Distal amyotrophy, Fasciculations, Loss of ... OMIM:182980
Spinal Muscular Atrophy With Progressive Myoclonic Epilepsy
Skeletal muscle atrophy, Progressive distal muscular atrophy, Spinal muscular atrophy, Facial pal... OMIM:159950
Spinocerebellar Ataxia, Autosomal Recessive 8
Kyphosis, Optic atrophy, Limb ataxia, Dysmetria, Gait ataxia, Abnormality of extrapyramidal motor... OMIM:610743
Primary Lateral Sclerosis, Juvenile
Appendicular spasticity, Spastic tetraparesis, Decreased compound muscle action potential amplitu... OMIM:606353
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 7
Tremor, Vocal cord paralysis, Distal amyotrophy, Difficulty walking, Vocal cord paresis OMIM:158580
Primary Lateral Sclerosis, Adult, 1
Spastic tetraparesis, Babinski sign, Spastic dysarthria, Abnormal upper motor neuron morphology, ... OMIM:611637
Episodic Ataxia With Slurred Speech
Tremor, Slurred speech, Gait ataxia ORPHA:401953
Yoon-Bellen Neurodevelopmental Syndrome
Ataxia, Inability to walk, Bilateral ptosis, Optic atrophy, Scoliosis, Spasticity, Downslanted pa... OMIM:619701
X-Linked Charcot-Marie-Tooth Disease Type 5
Ataxia, Impaired pain sensation, Tremor, Paraparesis, Kyphosis, Optic atrophy, Skeletal muscle hy... ORPHA:99014
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis, Incoordination, Ataxia, Parkinsonism, Oculogyric crisis, Tremor, Dysdiadochokinesis, Abno... OMIM:618049
Spinal Muscular Atrophy, Type Iii
Pelvic girdle amyotrophy, Spinal muscular atrophy, Hand tremor, Degeneration of anterior horn cel... OMIM:253400
Peripheral Neuropathy, Myopathy, Hoarseness, And Hearing Loss
Tremor, Distal amyotrophy, Distal sensory impairment, Fiber type grouping OMIM:614369
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Skeletal muscle atrophy, Dystonia, Oculogyric crisis, Tremor, Inability to walk, Bilateral ptosis... ORPHA:330050
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis OMIM:620086
Spinocerebellar Ataxia 40
Broad-based gait, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Ankle clonus, Dysdiadoch... OMIM:616053
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Abnormality of the dorsal column of the spinal cord, Impaired distal proprioception, Tremor, Flex... ORPHA:137898
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Parkinsonism, Rigidity, Babinski sign, Limb ataxia, Gait ataxia, Head t... ORPHA:101109
Dystonia, Dopa-Responsive
Resting tremor, Torticollis, Incoordination, Postural tremor, Writer's cramp, Babinski sign, Impa... OMIM:128230
Spinocerebellar Ataxia, Autosomal Recessive 32
Ptosis, Torticollis, Somatic sensory dysfunction, Postural tremor, Limb ataxia, Gait ataxia, Brad... OMIM:619862
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology, Waddling gait, Tremor, Inability to walk, Flexion contrac... ORPHA:2590
Optic Atrophy 3, Autosomal Dominant
Tremor, Optic disc pallor, Optic atrophy, Abnormality of extrapyramidal motor function OMIM:165300
Monomelic Amyotrophy
Tremor, Degeneration of anterior horn cells, Distal upper limb amyotrophy, Fasciculations, Abnorm... ORPHA:65684
Myasthenic Syndrome, Congenital, 12
Waddling gait, Facial palsy, Ragged-red muscle fibers, Proximal amyotrophy, Fatigable weakness, P... OMIM:610542
Spinocerebellar Ataxia, Autosomal Recessive 4
Torticollis, Ataxia, Tremor, Babinski sign, Abnormal pyramidal sign, Gait ataxia, Distal amyotrop... OMIM:607317
Myasthenic Syndrome, Congenital, 14
Waddling gait, Scapular winging, Centrally nucleated skeletal muscle fibers, Hyperlordosis, Limb-... OMIM:616228
Childhood-Onset Nemaline Myopathy
Flexion contracture, Increased muscle lipid content, Type 1 muscle fiber predominance, Waddling g... ORPHA:171439
Hereditary Motor And Sensory Neuropathy, Okinawa Type
Somatic sensory dysfunction, Fatiguable weakness of proximal limb muscles, Tremor, Inability to w... ORPHA:90117
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Ataxia, Involuntary movements, Centrally nucleated skeletal muscle fibers, Chorea... ORPHA:401768
Spinal Muscular Atrophy, X-Linked 2
Multiple joint contractures, Facial palsy, Spinal muscular atrophy, Decreased compound muscle act... OMIM:301830
Atypical Pantothenate Kinase-Associated Neurodegeneration
Parkinsonism, Tremor, Rigidity, Chorea, Optic atrophy, Abnormal pyramidal sign, Clumsiness, Focal... ORPHA:216873
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:613954
Dystonia-Parkinsonism-Hypermanganesemia Syndrome
Multiple joint contractures, Parkinsonism, Tremor, Babinski sign, Scissor gait, Oromandibular dys... ORPHA:521406
Congenital Myopathy With Myasthenic-Like Onset
Scapular winging, Multiple joint contractures, Rhabdomyolysis, Fatigable weakness, Myopathy, Gait... ORPHA:424107
Spinocerebellar Ataxia 50
Ptosis, Postural tremor, Ataxia, Chorea, Myoclonus, Head tremor, Apraxia, Froment sign, Action tr... OMIM:620158
Spinocerebellar Ataxia 37
Tremor, Frequent falls, Unsteady gait, Ataxia OMIM:615945
Osteomesopyknosis
Kyphosis, Sclerotic vertebral body, Scoliosis, Abnormal form of the vertebral bodies ORPHA:2777
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Progressive truncal ataxia, Optic disc pallor, Broad-based gait, Multiple joint contractures, Bab... ORPHA:363429
Inclusion Body Myopathy And Brain White Matter Abnormalities
Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Ptosis, Centrally nucle... OMIM:619733
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Spinal Muscular Atrophy, Type Iv
Waddling gait, Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centr... OMIM:271150
Epilepsy, Familial Adult Myoclonic, 3
Tremor, Myoclonus, Difficulty walking, Giant somatosensory evoked potentials, Enhancement of the ... OMIM:613608
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, S... OMIM:619566
Spinocerebellar Ataxia Type 38
Tremor, Somatic sensory dysfunction, Difficulty walking, Gait ataxia ORPHA:423296
Spinocerebellar Ataxia Type 15/16
Ataxia, Upper limb postural tremor, Gait ataxia, Head tremor, Tremor by anatomical site, Action t... ORPHA:98769
Spastic Ataxia 2, Autosomal Recessive
Spastic ataxia, Torticollis, Head titubation, Tremor, Babinski sign, Dysmetria, Gait ataxia, Ankl... OMIM:611302
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness, Calf muscle hypertrophy, Frequent falls, Ptosis OMIM:618197
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Ataxia, Limb-girdle muscle weakness, Bilateral ptosis, Optic atrophy, Viral infection-induced rha... ORPHA:329314
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Gait ataxia, S... OMIM:258450
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Spastic tetraplegia, Choreoathetosis, Aplasia of the left hemidiaphragm, Scoliosis... OMIM:618238
Spinocerebellar Ataxia Type 31
Impaired vibratory sensation, Spasticity, Tremor, Gait ataxia ORPHA:217012
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Weakness due to upper motor neuron dysfunction, Parkinson... ORPHA:275872
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis, Scapular winging, Ataxia, Facial palsy, Hand muscle weakness, Ragged-red muscle fibers, O... ORPHA:254886
Myasthenic Syndrome, Congenital, 16
Hyperlordosis, Periodic paralysis, Bilateral ptosis, Fatigable weakness, Gait disturbance, Ptosis OMIM:614198
Adult-Onset Chronic Progressive External Ophthalmoplegia With Mitochondrial Myopathy
Skeletal muscle atrophy, Bilateral ptosis, Abnormal pyramidal sign, Abnormality of the spinocereb... ORPHA:329336
Spinocerebellar Ataxia 18
Skeletal muscle atrophy, Tremor, Babinski sign, Dysmetria, Dysdiadochokinesis, Progressive gait a... OMIM:607458
Spinocerebellar Ataxia Type 37
Somatic sensory dysfunction, Tremor, Cogwheel rigidity, Dysdiadochokinesis, Gait disturbance, Myo... ORPHA:363710
Spinocerebellar Ataxia With Epilepsy
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Myopathy, Progressive cerebellar ataxia, Dysdiadoc... ORPHA:254881
Roussy-Levy Hereditary Areflexic Dystasia
Decreased motor nerve conduction velocity, Upper limb postural tremor, Kyphoscoliosis, Distal sen... OMIM:180800
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology, Achilles tendon contracture, Babinski sign, Spastic parap... OMIM:607225
Intellectual Developmental Disorder With Speech Delay And Axonal Peripheral Neuropathy
Tremor, Distal amyotrophy, Ataxia, Kyphoscoliosis OMIM:619099
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Skeletal muscle atrophy, Broad-based gait, Ataxia, Clonus, Bilateral ptosis, Ragged-red muscle fi... OMIM:616479
Spinal Muscular Atrophy, Segmental
Hand muscle atrophy, Abnormal anterior horn cell morphology, Segmental spinal muscular atrophy OMIM:183020
Spinocerebellar Ataxia 28
Somatic sensory dysfunction, Parkinsonism, Ragged-red muscle fibers, Babinski sign, Limb ataxia, ... OMIM:610246
Atypical Juvenile Parkinsonism
Resting tremor, Dystonia, Involuntary movements, Akinesia, Rigidity, Inability to walk, Abnormal ... ORPHA:391411
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 3
Ataxia, Tremor, Dysmetria, Gait ataxia, Distal sensory impairment, Distal amyotrophy, Steppage ga... OMIM:618387
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Waddling gait, Amyotrophic lateral sclerosis, Hyperlordosis, Fatty replacement of skeletal muscle... ORPHA:52430
Charcot-Marie-Tooth Disease, X-Linked Dominant, 1
Decreased motor nerve conduction velocity, Distal lower limb amyotrophy, Incoordination, Hand mus... OMIM:302800
Neurodevelopmental Disorder With Impaired Speech And Hyperkinetic Movements
Torticollis, Ataxia, Tremor, Chorea, Hyperkinetic movements, Dystonia OMIM:618425
Classic Pantothenate Kinase-Associated Neurodegeneration
Optic disc pallor, Generalized dystonia, Inability to walk, Spasticity, Opisthotonus, Tip-toe gai... ORPHA:216866
Charcot-Marie-Tooth Disease And Deafness
Decreased motor nerve conduction velocity, Thenar muscle atrophy, Tremor, Thenar muscle weakness,... OMIM:118300
Epilepsy, Familial Adult Myoclonic, 1
Tremor, Giant somatosensory evoked potentials, Enhancement of the C-reflex OMIM:601068
Myasthenic Syndrome, Congenital, 8
Weakness of facial musculature, Ptosis OMIM:615120
Parkinson Disease 15, Autosomal Recessive Early-Onset
Lower limb spasticity, Parkinsonism, Tremor, Rigidity, Babinski sign, Scissor gait, Bradykinesia,... OMIM:260300
Huntington Disease-Like 1
Incoordination, Involuntary movements, Chorea, Slurred speech, Dysmetria, Gait ataxia, Clumsiness... ORPHA:157941
Myasthenic Syndrome, Congenital, 5
Decreased muscle mass, Hyperlordosis, Limb muscle weakness, Prolonged miniature endplate currents... OMIM:603034
Spastic Ataxia 5, Autosomal Recessive
Spastic ataxia, Dystonia, Ataxia, Dysmetria, Distal amyotrophy, Dysdiadochokinesis, Myoclonus, In... OMIM:614487
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Ataxia, Ragged-red muscle fibers, Flexion contracture, Optic atrophy, Babinski sign, Le... OMIM:252011
Dyskinesia, Limb And Orofacial, Infantile-Onset
Tremor, Chorea, Unsteady gait, Hyperkinetic movements, Hemiballismus, Frequent falls OMIM:616921
Huntington Disease-Like Syndrome Due To C9Orf72 Expansions
Ataxia, Parkinsonism, Tremor, Rigidity, Chorea, Myoclonus, Dystonia, Upper motor neuron dysfunction ORPHA:401901
Charcot-Marie-Tooth Disease Type 1F
Hand muscle atrophy, Absent brainstem auditory responses, Skeletal muscle atrophy, Hand muscle we... ORPHA:101085
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Ataxia, Abnormal auditory evoked potentials, Optic atrophy, Myopathy, Gait disturbance, Increased... OMIM:125250
Congenital Myopathy 6 With Ophthalmoplegia
Waddling gait, Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture,... OMIM:605637
Amyotrophic Lateral Sclerosis 4, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o... OMIM:602433
Spinocerebellar Ataxia 7
Tremor, Chorea, Babinski sign, Optic atrophy, Dysmetria, Progressive cerebellar ataxia, Abnormali... OMIM:164500
Typical Nemaline Myopathy
Fatigable weakness of distal limb muscles, Short neck, Limb-girdle muscle weakness, Flexion contr... ORPHA:171436
Spinocerebellar Ataxia Type 36
Skeletal muscle atrophy, Ptosis, Ataxia, Babinski sign, Truncal ataxia, Dysmetria, Hand tremor, L... ORPHA:276198
Oculopharyngodistal Myopathy 3
Ptosis, Internally nucleated skeletal muscle fibers, Ataxia, Tremor, Increased variability in mus... OMIM:619473
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology, Motor conduction block DECIPHER:31
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Ptosis, Facial palsy, Truncal titubation, Inability to walk, Chorea, Babinski sign, Abnormal pyra... OMIM:607483
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Type 2 muscle fiber atrophy, Scoliosis, Weakness of facial musculature, Limb muscle... OMIM:608930
Myopathy, Centronuclear, 1
Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers... OMIM:160150
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Ptosis, Slurred speech, Truncal ataxia, Dysmetria, Limb ataxia, Ankle clonus, Progressive cerebel... ORPHA:284289
Epilepsy, Familial Adult Myoclonic, 4
Tremor, Enhancement of the C-reflex, Myoclonus OMIM:615127
Spinocerebellar Ataxia Type 12
Ataxia, Parkinsonism, Postural tremor, Action tremor, Unsteady gait, Abnormal pyramidal sign, Bra... ORPHA:98762
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2
Broad-based gait, Thoracic scoliosis, Ataxia, Tremor, Dysmetria, Gait ataxia, Dysdiadochokinesis,... OMIM:610185
Combined Oxidative Phosphorylation Deficiency 45
Tremor, Epicanthus, Ataxia, Short neck OMIM:618951
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Weakness of facial musculature, Ataxia, Ptosis OMIM:618637
Behr Syndrome
Ataxia, Tremor, Achilles tendon contracture, Unsteady gait, Optic atrophy, Babinski sign, Adducto... OMIM:210000
Spinocerebellar Ataxia Type 14
Somatic sensory dysfunction, Tremor, Rigidity, Limb ataxia, Gait ataxia, Progressive cerebellar a... ORPHA:98763
Spinocerebellar Ataxia 38
Ataxia, Tremor, Limb ataxia, Gait ataxia, Myoclonus OMIM:615957
Machado-Joseph Disease
Impaired vibratory sensation, Dystonia, Ataxia, Parkinsonism, Facial-lingual fasciculations, Rigi... OMIM:109150
Dna2-Related Mitochondrial Dna Deletion Syndrome
Multiple joint contractures, Hyperlordosis, Limb-girdle muscle weakness, Congenital ptosis, Myopa... ORPHA:352470
Dystonia 28, Childhood-Onset
Torticollis, Tremor, Tip-toe gait, Gait disturbance, Myoclonus, Retrocollis, Dystonia, Oromandibu... OMIM:617284
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Skeletal muscle atrophy, Ptosis, Facial palsy, Flexion contracture, Knee flexion contracture, Fat... OMIM:616313
Riboflavin Transporter Deficiency
Optic disc pallor, Skeletal muscle atrophy, Ptosis, Ataxia, Facial palsy, Tremor, Abnormal autono... ORPHA:97229
Tremor, Hereditary Essential, And Idiopathic Normal Pressure Hydrocephalus
Tremor, Kinetic tremor, Gait disturbance OMIM:611808
Subacute Inflammatory Demyelinating Polyneuropathy
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Decreased distal sensory ... ORPHA:206594
Spinocerebellar Ataxia 12
Axial dystonia, Parkinsonism, Dysmetria, Progressive cerebellar ataxia, Dysdiadochokinesis, Head ... OMIM:604326
Primary Dystonia, Dyt13 Type
Torticollis, Generalized dystonia, Postural tremor, Involuntary movements, Dystonia, Torsion dyst... ORPHA:98807
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Ataxia, Parkinsonism, Postural tremor, Oculogyric crisis, Rigidity, Babinsk... ORPHA:101150
Spinocerebellar Ataxia Type 20
Isometric tremor, Kinetic tremor, Ataxia, Upper limb postural tremor, Abnormal pyramidal sign, Ga... ORPHA:101110
Autosomal Spastic Paraplegia Type 58
Spastic ataxia, Torticollis, Clonus, Tremor, Chorea, Unsteady gait, Abnormal pyramidal sign, Babi... ORPHA:397946
Myasthenic Syndrome, Congenital, 10
Waddling gait, Proximal amyotrophy, Fatigable weakness, Distal amyotrophy, Weakness of facial mus... OMIM:254300
Polyglucosan Body Neuropathy, Adult Form
Orthostatic hypotension, Spastic paraplegia, Distal sensory impairment, Gait disturbance, Tetrapa... OMIM:263570
Myopathy, Centronuclear, 2
Waddling gait, Scapular winging, Facial palsy, Centrally nucleated skeletal muscle fibers, Hyperl... OMIM:255200
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
EMG: myopathic abnormalities, Ragged-red muscle fibers, Facial palsy, Ptosis OMIM:609283
Spinocerebellar Ataxia, Autosomal Recessive 16
Tremor, Babinski sign, Unsteady gait, Limb ataxia, Ankle clonus, Truncal ataxia, Spasticity OMIM:615768
Infantile-Onset Generalized Dyskinesia With Orofacial Involvement
Tremor, Chorea, Unsteady gait, Hemiballismus, Frequent falls ORPHA:494526
Boucher-Neuhauser Syndrome
Ataxia, Gait ataxia, Distal amyotrophy, Abnormal upper motor neuron morphology, Spasticity, Inten... OMIM:215470
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Loss of ambulation, Decreased miniature endplate potentials, Prolonged miniature endplate current... OMIM:616321
Ptosis-Vocal Cord Paralysis Syndrome
Hemiplegia, Ptosis ORPHA:2997
Epilepsy, Progressive Myoclonic, 6
Ataxia, Tremor, Myoclonus, Difficulty walking, Scoliosis, Loss of ambulation OMIM:614018
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal mitochondria in muscle tissue, Abnormal cranial nerve morphology OMIM:258470
Postsynaptic Congenital Myasthenic Syndromes
Skeletal muscle atrophy, Thoracic kyphoscoliosis, Facial palsy, Triceps weakness, Weakness of lon... ORPHA:98913
Parkinsonism-Dystonia 1, Infantile-Onset
Dystonia, Parkinsonism, Oculogyric crisis, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Cog... OMIM:613135
Spinocerebellar Ataxia, Autosomal Recessive 31
Ataxia, Tremor, Optic atrophy, Choreoathetosis, Lumbar kyphoscoliosis, Dystonia, Ptosis OMIM:619422
Multiple System Atrophy
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:102
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Kyphosis, Congenital muscular dystrophy, Gait disturbance, Ptosis ORPHA:1875
Coenzyme Q10 Deficiency, Primary, 4
Ataxia, Tremor, Abnormal pyramidal sign, Myoclonus, Increased intramyocellular lipid droplets, De... OMIM:612016
Sporadic Infantile Bilateral Striatal Necrosis
Resting tremor, Parkinsonism, Chorea, Babinski sign, Titubation, Gait ataxia, Bradykinesia, Gait ... ORPHA:225147
Brain Dopamine-Serotonin Vesicular Transport Disease
Ptosis, Dystonia, Ataxia, Parkinsonism, Abnormality of coordination, Spastic tetraparesis, Tremor... ORPHA:352649
Autosomal Recessive Ataxia, Beauce Type
Impaired vibratory sensation, Skeletal muscle atrophy, Lower limb spasticity, Ataxia, Kyphosis, B... ORPHA:88644
Juvenile Amyotrophic Lateral Sclerosis
Skeletal muscle atrophy, Clonus, Chorea, Upper-limb joint contracture, Opisthotonus, Hypertonia, ... ORPHA:300605
Oculopharyngodistal Myopathy
Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Vocal cord paresis, Abnorm... ORPHA:98897
Intellectual Developmental Disorder, X-Linked 104
Tremor, Spasticity, Optic atrophy, Ataxia OMIM:300983
Spinocerebellar Ataxia, Autosomal Recessive 13
Ataxia, Tremor, Inability to walk, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochoki... OMIM:614831
Neurodevelopmental Disorder With Motor And Speech Delay And Behavioral Abnormalities
Broad-based gait, Spastic tetraparesis, Tremor, Elbow flexion contracture, Optic atrophy OMIM:619470
Myoclonus, Intractable, Neonatal
Optic disc pallor, Chorea, Athetosis, Myoclonus, Increased variability in muscle fiber diameter, ... OMIM:617235
Adult Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Abnormal pyramidal sign, Clumsiness, Abnormality of extrapyramidal motor function... ORPHA:79262
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Babinski sign, Abnormal py... OMIM:602099
Vocal Cord Paralysis And Ptosis
Bilateral ptosis, Vocal cord paralysis OMIM:193240
Cataract-Ataxia-Deafness Syndrome
Decreased nerve conduction velocity, Hypertonia, Ataxia, Tremor ORPHA:1368
Multiple System Atrophy, Cerebellar Type
Axial dystonia, Resting tremor, Broad-based gait, Camptocormia, Postural tremor, Parkinsonism, Ri... ORPHA:227510
Primary Lateral Sclerosis
Abnormal lower motor neuron morphology, Somatic sensory dysfunction, Weakness due to upper motor ... ORPHA:35689
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Ataxia, Lower limb muscle weakness, Dysmetria, Spastic dysarthria, Distal amyotrophy, D... ORPHA:313772
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Dysmetria, Gait ataxia, Dysdiadochokinesis, Limb dysmetria, Ptosis ORPHA:324262
Parkinson Disease 22, Autosomal Dominant
Resting tremor, Orthostatic hypotension, Rigidity, Bradykinesia, Gait disturbance, Parkinsonism w... OMIM:616710
Mohr-Tranebjaerg Syndrome
Tremor, Intrinsic hand muscle atrophy, Spasticity, Dystonia, Abnormal posturing OMIM:304700
Coenzyme Q10 Deficiency, Primary, 9
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Impaired tandem gait, Type 2 muscle fiber predo... OMIM:619028
Neuropathy, Hereditary Motor And Sensory, Type Vib, With Optic Atrophy
Ataxia, Tremor, Flexion contracture, Optic atrophy, Babinski sign, Dysmetria, Gait ataxia, Distal... OMIM:616505
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Glycosylphosphatidylinositol Biosynthesis Defect 15
Tremor, Inability to walk, Optic atrophy, Dysmetria, Gait ataxia, Apraxia, Spasticity OMIM:617810
Mitochondrial Complex Iii Deficiency, Nuclear Type 2
Skeletal muscle atrophy, Resting tremor, Incoordination, Ataxia, Dystonia, Tremor, Paraparesis, B... OMIM:615157
Spinocerebellar Ataxia 23
Impaired distal proprioception, Tremor, Babinski sign, Impaired vibration sensation in the lower ... OMIM:610245
Charcot-Marie-Tooth Disease Type 4B2
Proximal muscle weakness in upper limbs, Decreased distal sensory nerve action potential, Kyphosc... ORPHA:99956
Neurodegeneration With Brain Iron Accumulation 8
Ataxia, Tremor, Unsteady gait, Dysmetria, Loss of ambulation OMIM:617917
Neuroectodermal Melanolysosomal Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Hypertonia, Spasticity ORPHA:33445
Pure Mitochondrial Myopathy
Waddling gait, Scapular winging, Lumbar hyperlordosis, Fatigable weakness of bulbar muscles, Quad... ORPHA:254854
Multiple System Atrophy, Parkinsonian Type
Axial dystonia, Resting tremor, Camptocormia, Postural tremor, Parkinsonism, Rigidity, Abnormal p... ORPHA:98933
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Dystonia 11, Myoclonic
Tremor, Torticollis, Writer's cramp, Myoclonus OMIM:159900
Hsd10 Disease
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Gait disturbance, Myoclonus, Spastic pa... ORPHA:391417
Non-Specific Early-Onset Epileptic Encephalopathy
Ptosis, Ataxia, Abnormality of coordination, Involuntary movements, Tremor, Rigidity, Unsteady ga... ORPHA:442835
X-Linked Intellectual Disability, Hedera Type
Extrapyramidal muscular rigidity, Action tremor, Inability to walk, Unsteady gait, Slurred speech... ORPHA:93952
Dystonia 12
Torticollis, Parkinsonism, Tremor, Unsteady gait, Bradykinesia, Dystonia, Hypomimic face OMIM:128235
X-Linked Emery-Dreifuss Muscular Dystrophy
Back pain, Short neck, Vocal cord paralysis, Decreased cervical spine flexion due to contractures... ORPHA:98863
Spastic Paraplegia 6, Autosomal Dominant
Lower limb spasticity, Clonus, Tremor, Spastic paraplegia, Impaired vibration sensation in the lo... OMIM:600363
Neurodegeneration With Brain Iron Accumulation 7
Lower limb spasticity, Ataxia, Tremor, Dysmetria, Spinocerebellar tract degeneration, Dystonia, L... OMIM:617916
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis, Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, Spinal... OMIM:608423
Epilepsy, Progressive Myoclonic, 1B
Ataxia, Tremor, Babinski sign, Dysmetria, Myoclonus OMIM:612437
Intellectual Disability-Developmental Delay-Contractures Syndrome
Kyphosis, Congenital foot contractures, Distal amyotrophy, Scoliosis, Oculomotor apraxia, Ptosis ORPHA:3454
Basal Ganglia Calcification, Idiopathic, 1
Parkinsonism, Tremor, Rigidity, Chorea, Abnormal pyramidal sign, Bradykinesia, Athetosis, Dysdiad... OMIM:213600
Combined Oxidative Phosphorylation Deficiency 32
Kyphoscoliosis, Tremor, Inability to walk, Optic atrophy, Spasticity, Choreoathetosis, Dystonia, ... OMIM:617664
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Impaired vibration sensation in the lower limbs, Generalized limb muscle atrophy, Clumsiness, Fac... ORPHA:521411
Brown-Vialetto-Van Laere Syndrome 1
Hand muscle atrophy, Skeletal muscle atrophy, Ptosis, Ataxia, Facial palsy, Kyphosis, Vocal cord ... OMIM:211530
Neuronal Intranuclear Inclusion Disease
Decreased motor nerve conduction velocity, Somatic sensory dysfunction, Ataxia, Tremor, Rigidity,... OMIM:603472
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Cerebral palsy, Thick eyebrow, Highly arched eyebrow, Kyphosis, Upslanted palpebral f... OMIM:615834
Adult-Onset Distal Myopathy Due To Vcp Mutation
Back pain, Scapular winging, Abnormality of the musculature of the lower limbs, Parkinsonism, Dec... ORPHA:329478
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia
Dystonia, Ataxia, Tremor, Chorea, Impaired distal vibration sensation, Oculomotor apraxia, Limb a... OMIM:208920
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Camptodactyly of finger, Ptosis DECIPHER:70
Dentatorubral Pallidoluysian Atrophy
Ataxia, Involuntary movements, Optic neuropathy, Dyssynergia, Impaired proprioception, Dysmetria,... ORPHA:101
Intellectual Developmental Disorder, Autosomal Recessive 48
Waddling gait, Inability to walk, Narrow palpebral fissure, Tremor OMIM:616269
Charcot-Marie-Tooth Disease, Axonal, Type 2Hh
Kyphoscoliosis, Impaired temperature sensation, Centrally nucleated skeletal muscle fibers, Tremo... OMIM:619574
Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Back pain, Vocal cord paralysis, Decreased cervical spine flexion due to contractures of posterio... ORPHA:98853
Hypermanganesemia With Dystonia 2
Tremor, Scissor gait, Opisthotonus, Limb dystonia, Parkinsonism, Clumsiness, Gait disturbance, Sc... OMIM:617013
Myopathy With Extrapyramidal Signs
Epicanthus, Ataxia, Clonus, Short neck, Tremor, Chorea, Optic atrophy, Clumsiness, Choreoathetosi... OMIM:615673
Neurodegeneration With Brain Iron Accumulation 4
Abnormal lower motor neuron morphology, Scapular winging, Generalized dystonia, Ataxia, Parkinson... OMIM:614298
Intellectual Developmental Disorder, X-Linked, Syndromic 13
Resting tremor, Dystonia, Facial hypotonia, Ataxia, Parkinsonism, Short neck, Tremor, Kyphoscolio... OMIM:300055
Ataxia With Vitamin E Deficiency
Skeletal muscle atrophy, Ataxia, Tremor, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Dysmetr... ORPHA:96
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Impaired vibratory sensation, Aganglionic megacolon, Impaired proprioception, Gait ataxia, Abnorm... OMIM:243180
Corticobasal Syndrome
Speech apraxia, Somatic sensory dysfunction, Dystonia, Parkinsonism, Limb apraxia, Involuntary mo... ORPHA:454887
Epilepsy, Progressive Myoclonic 7
Tremor, Ataxia, Myoclonus OMIM:616187
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Impaired tandem gait, Myoclonus, Head tremor, Dystonia,... OMIM:619724
Parkinson-Dementia Syndrome
Parkinsonism, Kyphoscoliosis, Tremor, Rigidity, Abnormal pyramidal sign OMIM:260540
Atp13A2-Related Juvenile Neuronal Ceroid Lipofuscinosis
Postural tremor, Tremor, Rigidity, Babinski sign, Bradykinesia, Gait disturbance, Myoclonus, Dyst... ORPHA:314632
Atypical Rett Syndrome
Dystonia, Involuntary movements, Impaired pain sensation, Tremor, Inability to walk, Kyphosis, Li... ORPHA:3095
Combined Oxidative Phosphorylation Defect Type 7
Skeletal muscle atrophy, Thoracic scoliosis, Ataxia, Inability to walk, Optic atrophy, Abnormal p... ORPHA:254930
Oculopharyngodistal Myopathy 4
Ptosis, Autophagic vacuoles, Postural tremor, Fatty replacement of skeletal muscle, Tremor, Incre... OMIM:619790
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Arthrogryposis multiplex congenita, Falls, Ptosis OMIM:616326
Spastic Paraplegia 9A, Autosomal Dominant
Impaired vibratory sensation, Lower limb spasticity, Resting tremor, Hoffmann sign, Babinski sign... OMIM:601162
Spinocerebellar Ataxia 36
Skeletal muscle atrophy, Incoordination, Ataxia, Babinski sign, Limb ataxia, Gait ataxia, Hyperto... OMIM:614153
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Spastic tetraplegia, Knee flexion contracture, Spasticity, Ptosis OMIM:616681
Progressive Supranuclear Palsy-Pure Akinesia With Gait Freezing Syndrome
Freezing of gait, Akinesia, Tremor, Rigidity, Oculomotor apraxia, Unsteady gait, Spastic dysarthr... ORPHA:240094
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Skeletal muscle atrophy, Axial muscle atrophy, Frequent falls, Limb-girdle muscle weakness, Achil... ORPHA:254361
Oculopharyngeal Muscular Dystrophy
Ptosis, Abnormal muscle fiber morphology, Ragged-red muscle fibers, Myopathy, Rimmed vacuoles, Sp... ORPHA:270
Neurodegeneration With Ataxia, Dystonia, And Gaze Palsy, Childhood-Onset
Ataxia, Tremor, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Limb ataxia, Dysdiadochokinesis,... OMIM:617145
X-Linked Charcot-Marie-Tooth Disease Type 2
Decreased motor nerve conduction velocity, Optic disc pallor, Distal lower limb amyotrophy, Tibia... ORPHA:101076
Late-Infantile/Juvenile Krabbe Disease
Prolonged brainstem auditory evoked potentials, Lower limb spasticity, Ataxia, Decreased nerve co... ORPHA:206443
Encephalopathy, Progressive, With Or Without Lipodystrophy
Ataxia, Tremor, Abnormal pyramidal sign, Tetraparesis, Myoclonus, Dystonia, Spasticity OMIM:615924
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Decreased nerve conduction ve... OMIM:218000
Pelizaeus-Merzbacher Disease, Classic Form
Dystonia, Ataxia, Spastic tetraparesis, Abnormal pyramidal sign, Dystonic gait, Titubation, Athet... ORPHA:280219
Spinocerebellar Ataxia, Autosomal Recessive 21
Skeletal muscle atrophy, Impaired pain sensation, Tremor, Limb ataxia, Gait ataxia, Distal sensor... OMIM:616719
Oculopharyngodistal Myopathy 2
Ptosis, Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Wea... OMIM:618940
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Dystonia, Ataxia, Clonus, Oculogyric crisis, Rigidity, Chorea, Opisthotonus, Choreoathetosis, Bra... ORPHA:13
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Hyperlordosis, Myopathy, Shoulder girdle muscle weakness, Gait disturbance, Generalized amyotroph... OMIM:615156
Dyskinesia With Orofacial Involvement, Autosomal Dominant
Resting tremor, Camptocormia, Dystonia, Involuntary movements, Chorea, Paroxysmal dyskinesia, Cho... OMIM:606703
Leukodystrophy, Hypomyelinating, 20
Torticollis, Babinski sign, Spastic tetraplegia, Hypertonia, Scoliosis, Dystonia, Ptosis OMIM:619071
Ceroid Lipofuscinosis, Neuronal, 13 (Kufs Type)
Ataxia, Tremor, Babinski sign, Gait ataxia, Abnormality of extrapyramidal motor function, Myoclonus OMIM:615362
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, P... OMIM:105550
Atypical Progressive Supranuclear Palsy Syndrome
Speech apraxia, Freezing of gait, Extrapyramidal muscular rigidity, Parkinsonism, Kyphoscoliosis,... ORPHA:99750
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Facial palsy, Ptosis OMIM:616322
Spinocerebellar Ataxia, Autosomal Recessive 2
Incoordination, Ataxia, Tremor, Unsteady gait, Dysmetria, Gait ataxia, Limb ataxia, Spasticity OMIM:213200
Parkinson Disease 2, Autosomal Recessive Juvenile
Parkinsonism, Tremor, Rigidity, Bradykinesia, Gait disturbance, Dystonia OMIM:600116
Spinocerebellar Ataxia 2
Impaired vibratory sensation, Ataxia, Parkinsonism, Postural tremor, Rigidity, Unsteady gait, Bab... OMIM:183090
Dystonia 3, Torsion, X-Linked
Tremor, Chorea, Torsion dystonia, Myoclonus, Parkinsonism with favorable response to dopaminergic... OMIM:314250
Infantile-Onset X-Linked Spinal Muscular Atrophy
Skeletal muscle atrophy, Hip contracture, Abnormal anterior horn cell morphology, Interphalangeal... ORPHA:1145
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Type 2 muscle fiber atrophy, Generalized hypotonia due to defect at the neuromuscular junction, M... OMIM:605809
Myoclonic-Atonic Epilepsy
Tremor, Ataxia, Scoliosis, Eyelid myoclonus OMIM:616421
Pelizaeus-Merzbacher Disease
Broad-based gait, Generalized dystonia, Ataxia, Writer's cramp, Head titubation, Tremor, Inabilit... OMIM:312080
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Skeletal muscle atrophy, Decreased muscle mass, Facial palsy, Fatigable weakness, Arthrogryposis ... OMIM:608931
Pontocerebellar Hypoplasia, Type 16
Skeletal muscle atrophy, Ptosis, Optic atrophy, Spastic tetraplegia, Abnormality of extrapyramida... OMIM:619527
Whistling Face Syndrome, Recessive Form
Epicanthus, Telecanthus, Shoulder flexion contracture, Kyphoscoliosis, Short neck, Elbow flexion ... OMIM:277720
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Frontalis muscle wea... OMIM:300580
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Ptosis OMIM:616325
Beta-Propeller Protein-Associated Neurodegeneration
Dystonia, Parkinsonism, Tremor, Rigidity, Optic atrophy, Bradykinesia, Abnormal autonomic nervous... ORPHA:329284
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Arthrogryp... OMIM:254210
Neurodevelopmental Disorder With Epilepsy And Hypoplasia Of The Corpus Callosum
Tremor, Inability to walk, Rigidity, Dysmetria, Gait ataxia, Gait disturbance OMIM:618090
Primary Dystonia, Dyt2 Type
Torticollis, Generalized dystonia, Involuntary movements, Tremor, Torsion dystonia, Blepharospasm... ORPHA:99657
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Amyotrophic lateral sclerosis, F... OMIM:616437
Lopes-Maciel-Rodan Syndrome
Tremor, Kyphosis, Unsteady gait, Abnormal pyramidal sign, Ankle clonus, Bradykinesia, Hypertonia,... OMIM:617435
Pontine Tegmental Cap Dysplasia
Ataxia, Facial palsy, Head titubation, Hemivertebrae, Dysmetria, Ankle clonus, Scoliosis, Oculomo... OMIM:614688
Hemiparkinsonism-Hemiatrophy Syndrome
Dystonia, Parkinsonism, Tremor, Hemiparesis, Bradykinesia, Difficulty walking, Scoliosis ORPHA:306669
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Fatty replacement of skeletal muscle, Proximal muscle weakness in lower limbs, Distal lower limb ... ORPHA:171706
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Hand muscle atrophy, Intrinsic hand muscle atrophy, Prolonged miniature endplate currents, Upper ... OMIM:601462
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Cerebral palsy, Highly arched eyebrow, Kyphosis, Bilateral ptosis, Upslanted palpebra... ORPHA:352490
Leukodystrophy, Hypomyelinating, 6
Ataxia, Tremor, Rigidity, Optic atrophy, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612438
Intellectual Developmental Disorder, Autosomal Dominant 56
Lower limb spasticity, Broad-based gait, Ptosis, Ataxia, Inability to walk, Paraparesis, Oromotor... OMIM:617854
4H Leukodystrophy
Ataxia, Tremor, Optic atrophy, Dysmetria, Progressive gait ataxia, Dysdiadochokinesis, Abnormalit... ORPHA:289494
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Skeletal muscle atrophy, Scapular winging, Ragged-red muscle fibers, Weakness of facial musculatu... OMIM:617069
Leukodystrophy, Hypomyelinating, 7, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Postural tremor, Tremor, Babinski sign, Optic atrophy, Dysmetria, Dystonia, Loss of ambul... OMIM:607694
Spinocerebellar Ataxia 48
Ataxia, Parkinsonism, Tremor, Chorea, Babinski sign, Dysmetria, Gait ataxia, Dystonia OMIM:618093
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Optic atrophy OMIM:300928
Adult-Onset Autosomal Dominant Leukodystrophy
Clonus, Tremor, Flexion contracture, Abnormal pyramidal sign, Impaired proprioception, Dysmetria,... ORPHA:99027
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Inability to walk, Spastic tetraparesis, Ptosis ORPHA:438178
Progressive Supranuclear Palsy-Parkinsonism Syndrome
Tremor, Rigidity, Bradykinesia, Falls, Dystonia, Parkinsonism with favorable response to dopamine... ORPHA:240085
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Skeletal muscle atrophy, Distal lower limb amyotrophy, Fa... ORPHA:276244
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Hemiplegia, Facial palsy, Ptosis ORPHA:2743
Autosomal Dominant Adult-Onset Proximal Spinal Muscular Atrophy
Waddling gait, Tremor, Proximal amyotrophy, Upper limb muscle weakness, Calf muscle hypertrophy, ... ORPHA:209335
Autosomal Recessive Spastic Paraplegia Type 75
Impaired vibratory sensation, Distal lower limb amyotrophy, Spastic paraplegia, Babinski sign, Ab... ORPHA:459056
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Cerebral palsy, Oculogyric crisis, Tremor, Rigidity, Bradykinesia, Hypomimic face, Dyston... ORPHA:70594
King-Denborough Syndrome
Lumbar hyperlordosis, Kyphoscoliosis, Centrally nucleated skeletal muscle fibers, Short neck, Bil... OMIM:619542
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2
Decreased motor nerve conduction velocity, Conjunctival telangiectasia, Dystonia, Tremor, Chorea,... OMIM:606002
Sporadic Adult-Onset Ataxia Of Unknown Etiology
Resting tremor, Ataxia, Parkinsonism, Akinesia, Rigidity, Babinski sign, Gait ataxia, Abnormal cr... ORPHA:247234
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Hand muscle weakness, Decr... OMIM:606070
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Ptosis, Interphalangeal joint contracture of finger, Thick eyebrow, Knee flexion contracture OMIM:606242
Hengel-Maroofian-Schols Syndrome
Epicanthus, Thick eyebrow, Foot joint contracture, Inability to walk, Synophrys, Tetraplegia, Gai... OMIM:619641
Kufor-Rakeb Syndrome
Torticollis, Dystonia, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Paraparesis, Babinski si... OMIM:606693
Infantile Neuronal Ceroid Lipofuscinosis
Ataxia, Tremor, Chorea, Unsteady gait, Dysmetria, Clumsiness, Poor fine motor coordination, Myocl... ORPHA:79263
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Parkinsonism, Paralysis OMIM:105500
Progressive Supranuclear Palsy-Corticobasal Syndrome
Somatic sensory dysfunction, Involuntary movements, Limb apraxia, Tremor, Rigidity, Abnormal pyra... ORPHA:240103
Congenital Myopathy 1B, Autosomal Recessive
Skeletal muscle atrophy, Ptosis, Facial palsy, Centrally nucleated skeletal muscle fibers, Increa... OMIM:255320
Charcot-Marie-Tooth Disease, Demyelinating, Type 1F
Decreased motor nerve conduction velocity, Distal amyotrophy, Tremor, Distal sensory impairment OMIM:607734
Congenital Myopathy 22A, Classic
Thoracic scoliosis, Synophrys, Ragged-red muscle fibers, Generalized amyotrophy, Neonatal death, ... OMIM:620351
Autosomal Recessive Spastic Paraplegia Type 77
Lower limb spasticity, Paroxysmal dystonia, Ptosis, Weakness due to upper motor neuron dysfunctio... ORPHA:466722
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Skeletal muscle atrophy, Resting tremor, Facial palsy, Parkinsonism, Impaired distal propriocepti... OMIM:157640
Wernicke-Korsakoff Syndrome
Ataxia, Ptosis OMIM:277730
Borjeson-Forssman-Lehmann Syndrome
Kyphosis, Cervical spinal canal stenosis, Narrow palpebral fissure, Scoliosis, Blepharophimosis, ... OMIM:301900
Congenital Myopathy 19
Skeletal muscle atrophy, Facial hypotonia, Congenital contracture, Gait disturbance, Scoliosis, P... OMIM:618578
Congenital Myopathy 4A, Autosomal Dominant
Lumbar hyperlordosis, Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle f... OMIM:255310
Wieacker-Wolff Syndrome
Dystonia, Facial palsy, Short neck, Hyperlordosis, Kyphosis, Congenital foot contractures, Upslan... OMIM:314580
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Ptosis, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Abnormal cranial nerve... ORPHA:2057
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities
Ataxia, Tremor, Gait ataxia, Impaired tactile sensation, Upslanted palpebral fissure, Hypertonia,... OMIM:619092
Combined Oxidative Phosphorylation Deficiency 54
Impaired vibratory sensation, Optic disc pallor, Epicanthus, Tremor, Hypoesthesia, Hemiparesis, H... OMIM:619737
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Hand tremor, Upslanted palpebral fissure,... ORPHA:589905
Neurodegeneration With Brain Iron Accumulation 3
Ataxia, Parkinsonism, Writer's cramp, Tremor, Rigidity, Chorea, Babinski sign, Choreoathetosis, B... OMIM:606159
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ataxia, Parkinsonism, Babinski sign, Ptosis OMIM:615911
Amyotrophy, Hereditary Neuralgic
Skeletal muscle atrophy, Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Ble... OMIM:162100
Intellectual Developmental Disorder, Autosomal Dominant 60, With Seizures
Tremor, Chorea, Gait ataxia, Myoclonus, Truncal ataxia OMIM:618587
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Birk-Landau-Perez Syndrome
Ptosis, Camptocormia, Facial hypotonia, Optic atrophy, Limb ataxia, Choreoathetosis, Upslanted pa... OMIM:617595
Jaberi-Elahi Syndrome
Appendicular spasticity, Broad-based gait, Sparse eyelashes, Tremor, Inability to walk, Kyphosis,... OMIM:617988
Autosomal Dominant Optic Atrophy Plus Syndrome
Absent brainstem auditory responses, Ataxia, Limb-girdle muscle weakness, Bilateral ptosis, Spast... ORPHA:1215
Epilepsy, Familial Adult Myoclonic, 2
Ataxia, Tremor, Blepharospasm, Myoclonus, Giant somatosensory evoked potentials, Enhancement of t... OMIM:607876
Mitochondrial Dna Depletion Syndrome 11
Neuropathic spinal arthropathy, Facial palsy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers... OMIM:615084
Mohr-Tranebjaerg Syndrome
Absent brainstem auditory responses, Generalized dystonia, Dystonia, Tremor, Inability to walk, B... ORPHA:52368
Arthrogryposis, Distal, Type 7
Arthrogryposis multiplex congenita, Distal arthrogryposis, Ptosis OMIM:158300
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z
Hand muscle weakness, Tremor, Limb-girdle muscle weakness, Tongue tremor, Upper limb muscle weakn... ORPHA:466768
Spinocerebellar Ataxia Type 27
Akinesia, Tremor, Hand tremor, Limb ataxia, Gait ataxia, Gait disturbance, Difficulty walking, Tr... ORPHA:98764
Proteus Syndrome
Kyphoscoliosis, Spinal cord compression, Spinal canal stenosis, Limbal dermoid, Downslanted palpe... OMIM:176920
Inherited Creutzfeldt-Jakob Disease
Spastic hemiparesis, Tremor, Chorea, Babinski sign, Abnormal pyramidal sign, Slurred speech, Gait... ORPHA:282166
Congenital Myopathy 5 With Cardiomyopathy
Centrally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Myopa... OMIM:611705
Spinocerebellar Ataxia 42
Spastic ataxia, Ataxia, Tremor, Babinski sign, Unsteady gait, Abnormal pyramidal sign, Spastic ga... OMIM:616795
Sialidosis Type 1
Skeletal muscle atrophy, Ataxia, Decreased nerve conduction velocity, Tremor, Kyphosis, Slurred s... ORPHA:812
Lethal Congenital Contracture Syndrome 1
Skeletal muscle atrophy, Hypoplasia of the musculature, Paucity of anterior horn motor neurons, N... OMIM:253310
Combined Oxidative Phosphorylation Deficiency 20
Hypertonia, Left ventricular noncompaction, Ataxia, Ptosis OMIM:615917
Arthrogryposis, Distal, Type 2B3
Ptosis, Downslanted palpebral fissures, Scoliosis, Camptodactyly OMIM:618436
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Hypertonia, Scoliosis, Downslanted palpebral fissures, Ptosis ORPHA:1390
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Ataxia, Tremor, Abnormal pyramidal sign, Paraplegia, Limb ataxia, Hemiparesis, Positive R... OMIM:105210
Neurodevelopmental Delay-Seizures-Ophthalmic Anomalies-Osteopenia-Cerebellar Atrophy Syndrome
Tremor, Optic atrophy, Dysmetria, Gait ataxia, Difficulty walking, Oculomotor apraxia, Spasticity ORPHA:529665
Coffin-Siris Syndrome 8
Thick eyebrow, Long eyelashes, Scoliosis, Ptosis OMIM:618362
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Rhabdomyolysis, Skeletal muscle atrophy, Ragged-red muscle fibers, Ptosis OMIM:617070
Mitochondrial Complex I Deficiency, Nuclear Type 5
Ataxia, Babinski sign, Optic atrophy, Dystonia, Ptosis OMIM:618226
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Ataxia, Choreoathetosis, Dystonia, Oculomotor apraxia,... OMIM:245348
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Spasticity, Spastic tetraparesis, Ptosis OMIM:616154
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Babinski sign, Gait disturbance, Myoclonus, Apraxia, Abnormal upper motor neuron morphology, Spas... OMIM:221770
Combined Oxidative Phosphorylation Deficiency 7
Skeletal muscle atrophy, Ataxia, Optic atrophy, Distal sensory impairment, Facial diplegia, Facia... OMIM:613559
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Parkinsonism, Akinesia, Conjunctival hyperemia, Tremor, Abnormal pyramidal sign, ... ORPHA:240071
Postencephalitic Parkinsonism
Resting tremor, Camptocormia, Involuntary movements, Akinesia, Oculogyric crisis, Rigidity, Kypho... ORPHA:97349
Synaptic Congenital Myasthenic Syndromes
Waddling gait, Skeletal muscle atrophy, Scapular winging, Ptosis, Facial palsy, Frequent falls, H... ORPHA:98915
Congenital Multicore Myopathy With External Ophthalmoplegia
Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at... ORPHA:98905
Wieacker-Wolff Syndrome, Female-Restricted
Hip contracture, Facial palsy, Short neck, Inability to walk, Achilles tendon contracture, Flexio... OMIM:301041
Autosomal Dominant Optic Atrophy, Classic Form
Skeletal muscle atrophy, Scapular winging, Ataxia, Spastic paraplegia, Optic atrophy, Hemiparesis... ORPHA:98673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Hip contracture, Epicanthus, Facial hypotonia, Short neck, Inability to walk, Hypertonia, Scolios... OMIM:616801
X-Linked Dystonia-Parkinsonism
Limb dystonia, Resting tremor, Chorea, Torsion dystonia, Hand tremor, Focal dystonia, Blepharospa... ORPHA:53351
Warburg Micro Syndrome 1
Optic atrophy, Spastic diplegia, Kyphoscoliosis, Ptosis OMIM:600118
Schwartz-Jampel Syndrome, Type 1
Waddling gait, Hip contracture, Skeletal muscle atrophy, Lumbar hyperlordosis, Ptosis, Shoulder f... OMIM:255800
Leukoencephalopathy, Developmental Delay, And Episodic Neurologic Regression Syndrome
Dystonia, Parkinsonism, Head titubation, Tremor, Inability to walk, Rigidity, Gait ataxia, Choreo... OMIM:618877
Fazio-Londe Disease
Facial diplegia, Ptosis OMIM:211500
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Ptosis, Epicanthus, Limb joint contracture, Flexion co... OMIM:618186
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Skeletal muscle atrophy, Impaired distal proprioception, Ragged-red muscle fibers, Dysmetria, Gai... OMIM:607459
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Flexion contracture, Hypertonia, Long eyelashes, Spasticity, Ptosis OMIM:619076
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis, Weakness of facial musculature, Fatigable weakness of skeletal muscles OMIM:616324
Neurodegeneration With Brain Iron Accumulation 5
Dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous syst... OMIM:300894
Hyperphenylalaninemia, Bh4-Deficient, A
Ataxia, Parkinsonism, Tremor, Rigidity, Choreoathetosis, Bradykinesia, Hypertonia, Dystonia, Limb... OMIM:261640
Developmental And Epileptic Encephalopathy 42
Ataxia, Tremor, Flexion contracture, Athetosis, Hypertonia OMIM:617106
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ataxia, Spastic tetraparesis, Babinski sign, Gait disturbance, Loss of ambulat... OMIM:615838
Myopathy, Mitochondrial, And Ataxia
Ataxia, Tremor, Inability to walk, Dysmetria, Limb ataxia, Distal sensory impairment, Distal amyo... OMIM:617675
Developmental Delay And Seizures With Or Without Movement Abnormalities
Ataxia, Tremor, Rigidity, Bradykinesia, Dystonia OMIM:617836
Myopathy, Myofibrillar, 8
Scapular winging, Frequent falls, Centrally nucleated skeletal muscle fibers, Spinal rigidity, Ac... OMIM:617258
Joubert Syndrome
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Abnormal form of the vertebral bodi... ORPHA:475
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Dysmetria, Gait ataxia, Dysdiadochokinesi... OMIM:614381
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Tremor, EMG: myopathic abnormalities, Downslanted palpebral fissures, Ptosis ORPHA:457365
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Skeletal muscle atrophy, Ataxia, Ptosis ORPHA:1933
Retinal Dystrophy With Leukodystrophy
Waddling gait, Truncal titubation, Bilateral ptosis, Dysmetria, Falls OMIM:618863
Arthrogryposis, Distal, Type 5
Decreased muscle mass, Epicanthus, Kyphosis, Hypertonia, Distal arthrogryposis, Firm muscles, Con... OMIM:108145
Non-Distal Deletion 10Q
Epicanthus, Ataxia, Synophrys, Upslanted palpebral fissure, Gait disturbance, Ptosis ORPHA:1581
Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements And Lactic Acidosis, With Or Without Seizures
Skeletal muscle atrophy, Ataxia, Tremor, Optic atrophy, Spastic tetraplegia, Dysmetria, Athetosis... OMIM:617710
Mitochondrial Dna Depletion Syndrome, Myopathic Form
Skeletal muscle atrophy, Spinal muscular atrophy, Bilateral ptosis, Myopathy, Difficulty walking,... ORPHA:254875
Dystonia, Dopa-Responsive, Due To Sepiapterin Reductase Deficiency
Ataxia, Tremor, Choreoathetosis, Dystonia, Oculomotor apraxia, Spasticity OMIM:612716
Myasthenic Syndrome, Congenital, 20, Presynaptic
Skeletal muscle atrophy, Facial palsy, Kyphosis, Fatigable weakness, Scoliosis, Arthrogryposis mu... OMIM:617143
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Broad-based gait, Ataxia, Dysmetria, Ptosis OMIM:618098
Intellectual Developmental Disorder, Autosomal Dominant 55, With Seizures
Tremor, Ataxia, Gait ataxia OMIM:617831
Intellectual Developmental Disorder, Autosomal Dominant 23
Sacral dimple, Hyperlordosis, Kyphosis, Synophrys, Upslanted palpebral fissure, Scoliosis, Downsl... OMIM:615761
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Scoliosis, Spina bifida occulta, Downslanted palpebral fissures, Ptosis OMIM:618736
Leigh Syndrome
Ataxia, Optic atrophy, Dystonia, Spasticity, Ptosis OMIM:256000
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome
Optic disc pallor, Somatic sensory dysfunction, Tremor, Increased variability in muscle fiber dia... ORPHA:502423
Spinocerebellar Ataxia 47
Ataxia, Chorea, Dysmetria, Spasticity, Ptosis OMIM:617931
Mcdonough Syndrome
Kyphosis, Synophrys, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Short palpe... ORPHA:2471
Cln5 Disease
Abnormal central motor function, Ataxia, Tremor, Inability to walk, Unsteady gait, Poor gross mot... ORPHA:228360
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Choreoathetosis, Myoclonus, Dystonia, Episodic ataxia, Ptosis OMIM:312170
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Cerebral palsy, Chorea, Babinski sign, Choreoathetosis, Hypertonia, Dystonia, Spasticity, Ptosis OMIM:618451
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Camptodactyly of finger, Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atro... OMIM:600638
Cerebral Creatine Deficiency Syndrome 2
Lower limb spasticity, Ataxia, Tremor, Rigidity, Paraparesis, Hypertonia, Myoclonus, Progressive ... OMIM:612736
Parkinson Disease 14, Autosomal Recessive
Eyelid apraxia, Resting tremor, Axial dystonia, Parkinsonism, Upper limb postural tremor, Tremor,... OMIM:612953
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome
Lower limb spasticity, Broad-based gait, Resting tremor, Parkinsonism, Kyphoscoliosis, Tremor, Sh... ORPHA:3077
Congenital Myasthenic Syndrome
Waddling gait, Neuropathic spinal arthropathy, Ptosis, Ataxia, Kyphoscoliosis, Spinal rigidity, L... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Waddling gait, Neuropathic spinal arthropathy, Ptosis, Ataxia, Kyphoscoliosis, Spinal rigidity, L... ORPHA:98914
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Skeletal muscle atrophy, Loss of ability to walk in early childhood, Inability to walk, Facial di... OMIM:612073
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Scoliosis, Oculom... ORPHA:220497
Distal Duplication 15Q
Congenital muscular torticollis, Camptodactyly of finger, Short neck, Hypertonia, Blepharophimosi... ORPHA:1707
Pyruvate Dehydrogenase Deficiency
Epicanthus, Cerebral palsy, Ataxia, Tremor, Abnormal pyramidal sign, Choreoathetosis, Upslanted p... ORPHA:765
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis, Ataxia, Babinski sign, Dysmetria, Tongue fasciculations, Intention tremor OMIM:618170
Mitochondrial Complex I Deficiency, Nuclear Type 4
Spasticity, Ataxia, Myoclonus, Ptosis OMIM:618225
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Frequent falls, Downslant... OMIM:617523
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ataxia, Chorea, Athetosis, Hypertonia, Dystonia, Ptosis ORPHA:52503
Nemaline Myopathy 5A, Autosomal Recessive, Severe Infantile
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Myopathy, Type 1 musc... OMIM:605355
Severe Neurodegenerative Syndrome With Lipodystrophy
Ataxia, Poor motor coordination, Tremor, Abnormal pyramidal sign, Gait ataxia, Myopathy, Myoclonu... ORPHA:363400
Multiple System Atrophy 1, Susceptibility To
Skeletal muscle atrophy, Orthostatic hypotension, Ataxia, Parkinsonism, Tremor, Rigidity, Babinsk... OMIM:146500
Spinocerebellar Ataxia, Autosomal Recessive 30
Ataxia, Tremor, Unsteady gait, Dysmetria, Titubation OMIM:619405
Arachnoid Cyst
Back pain, Facial palsy, Spinal cord compression, Inability to walk, Cranial nerve compression, P... ORPHA:2356
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Hip contracture, Scapular winging, Ankle flexion contracture, Flexion contracture, Elbow flexion ... OMIM:617468
Houge-Janssens Syndrome 1
Congenital muscular torticollis, Facial hypotonia, Gait ataxia, Scoliosis, Downslanted palpebral ... OMIM:616355
Parkinson Disease 13, Autosomal Dominant, Susceptibility To
Tremor, Parkinsonism with favorable response to dopaminergic medication, Rigidity, Bradykinesia OMIM:610297
Spastic Paraplegia 9B, Autosomal Recessive
Skeletal muscle atrophy, Tremor, Impaired distal vibration sensation, Babinski sign, Spastic para... OMIM:616586
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Tremor, Gait disturbance, Scoliosis, Oculom... ORPHA:220493
O'Sullivan-Mcleod Syndrome
Hyperintensity of MRI T2 signal of the spinal cord, Somatic sensory dysfunction, Hand muscle weak... ORPHA:99965
Leukoencephalopathy With Ataxia
Action tremor, Limb ataxia, Optic neuropathy, Gait ataxia OMIM:615651
Proximal Xq28 Duplication Syndrome
Blepharophimosis, Epicanthus, Gait disturbance, Ptosis ORPHA:1762
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Scoliosis, Ptosis OMIM:618155
Dystonia 13, Torsion, Autosomal Dominant
Torticollis, Writer's cramp, Tremor, Torsion dystonia, Blepharospasm, Limb dystonia, Oromandibula... OMIM:607671
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Dystonia, Thick eyebrow, Ptosis OMIM:617268
Caribbean Parkinsonism
Orthostatic hypotension, Dystonia, Weakness due to upper motor neuron dysfunction, Parkinsonism, ... ORPHA:97355
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Autosomal Recessive Cerebelloparenchymal Disorder Type 3
Ataxia, Poor motor coordination, Tremor, Dysmetria, Gait ataxia, Oculomotor apraxia, Spasticity ORPHA:1170
Parkinsonism-Dystonia 3, Childhood-Onset
Ataxia, Parkinsonism, Tremor, Chorea, Hypertonia, Hyperkinetic movements, Dystonia, Action tremor OMIM:619738
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Impaired vibratory sensation, Impaired distal proprioception, Ragged-red muscle fibers, Gait atax... ORPHA:70595
Parkinson Disease, Late-Onset
Resting tremor, Parkinsonism, Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system p... OMIM:168600
Developmental And Epileptic Encephalopathy 32
Tremor, Ataxia, Myoclonus OMIM:616366
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Scoliosis, Ptosis ORPHA:1825
4Q21 Microdeletion Syndrome
Short neck, Tremor, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Ptosis ORPHA:238750
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis, Myoclonus, Intention tremor OMIM:610539
Hyperphenylalaninemia, Bh4-Deficient, B
Tremor, Rigidity, Choreoathetosis, Hyperkinetic movements, Dystonia, Limb hypertonia OMIM:233910
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Hypertonia, Scoliosis, Ptosis ORPHA:2617
Parkinson Disease 20, Early-Onset
Eyelid apraxia, Dystonia, Parkinsonism, Involuntary movements, Tremor, Rigidity, Bradykinesia, Ga... OMIM:615530
Amish Nemaline Myopathy
Hip contracture, Shoulder flexion contracture, Tremor, Proximal amyotrophy, Type 1 muscle fiber p... ORPHA:98902
Developmental And Epileptic Encephalopathy 84
Epicanthus, Chorea, Babinski sign, Synophrys, Opisthotonus, Dystonia, Blepharophimosis, Spasticit... OMIM:618792
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Short neck, Flexion contracture, Myopathy, Cervical C2/C3 vertebral fusi... OMIM:616549
Japanese Encephalitis
Decreased motor nerve conduction velocity, Skeletal muscle atrophy, Hyperintensity of MRI T2 sign... ORPHA:79139
Leukoencephalopathy With Calcifications And Cysts
Ataxia, Tremor, Abnormal pyramidal sign, Gait disturbance, Dystonia, Spasticity ORPHA:542310
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis, Abnormal muscle fiber protein expression ORPHA:330054
Alexander Disease
Ataxia, Facial palsy, Clonus, Short neck, Tremor, Hyperlordosis, Chorea, Kyphosis, Abnormal pyram... ORPHA:58
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Short neck, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thi... OMIM:300590
Tay-Sachs Disease
Skeletal muscle atrophy, Tremor, Dysmetria, Decerebrate rigidity, Progressive spasticity, Larynge... ORPHA:845
Intellectual Developmental Disorder With Or Without Epilepsy Or Cerebellar Ataxia
Incoordination, Ataxia, Tremor, Abnormal pyramidal sign, Eyelid myoclonus, Oculomotor apraxia, Sp... OMIM:618060
Parkinson Disease 17
Resting tremor, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia OMIM:614203
Trisomy 5P
Scoliosis, Ptosis ORPHA:1742
Joubert Syndrome 8
Optic disc pallor, Ataxia, Hypertonia, Oculomotor apraxia, Ptosis OMIM:612291
Leukodystrophy, Hypomyelinating, 11
Tremor, Spasticity, Ataxia, Myoclonus OMIM:616494
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome
Decreased nerve conduction velocity, Fatty replacement of skeletal muscle, Tremor, Vocal cord par... ORPHA:397744
Isolated Atp Synthase Deficiency
Ataxia, Spastic paraplegia, Optic atrophy, Tetraplegia, Dystonia, Ptosis ORPHA:254913
Joubert Syndrome 35
Telecanthus, Ataxia, Highly arched eyebrow, Synophrys, Oculomotor apraxia, Ptosis OMIM:618161
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Spina bifida, Synophrys, Scol... ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Hypoglycosylation of alpha-dystroglycan, Generalized limb muscle atrophy, Hypertonia, Muscular dy... OMIM:615351
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Decreased muscle mass, Inability to walk, Flexion cont... OMIM:615663
Arthrogryposis, Distal, Type 3
Decreased muscle mass, Lumbar hyperlordosis, Epicanthus, Camptodactyly of finger, Thoracolumbar s... OMIM:114300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Incoordination, Ataxia, Short neck, Upslanted palpebral fissure, Macroglossia, Arthro... ORPHA:369891
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Adult Intestinal Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178487
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Ataxia, Spastic tetraparesis, Optic atrophy, Abnormal pyramidal sign, Skeletal muscle steatosis, ... ORPHA:436271
Gerstmann-Straussler Disease
Parkinsonism, Tremor, Rigidity, Limb ataxia, Gait ataxia, Bradykinesia, Myoclonus, Truncal ataxia... OMIM:137440
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Congenital finger flexion contractures, Ptosis ORPHA:1154
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Neuropathic spinal arthropathy, Spinal rigidity, Kyphosis, Ragged-red muscle fibers, Myopathy, Ge... ORPHA:352447
9Q21.13 Microdeletion Syndrome
Vertebral segmentation defect, Syringomyelia, Scoliosis, Difficulty walking, Long palpebral fissu... ORPHA:531151
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures
Exaggerated startle response, Epicanthus, Truncal titubation, Tremor, Dysmetria, Gait ataxia, Hyp... OMIM:618056
Intellectual Developmental Disorder With Autism And Macrocephaly
Ptosis, Downslanted palpebral fissures, Clumsiness OMIM:615032
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Parkinsonism, Ragged-red muscle fibers, Limb muscle weakness, Sensory ataxia, Gait disturbance, E... OMIM:609286
Mosaic Trisomy 14
Blepharophimosis, Ptosis, Camptodactyly of finger, Short neck ORPHA:1703
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Torticollis, Exaggerated startle response, Oculogyric crisis, Babinski sign, Limb tremor,... OMIM:608643
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis, Myopathy, Ataxia, Gait ataxia OMIM:613077
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Frontalis muscle weakness, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis OMIM:210745
Spinocerebellar Ataxia Type 21
Akinesia, Tremor, Rigidity, Gait ataxia, Progressive cerebellar ataxia, Abnormality of extrapyram... ORPHA:98773
Joubert Syndrome 7
Oculomotor apraxia, Ataxia, Scoliosis, Ptosis OMIM:611560
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Spastic ataxia, Torticollis, Thoracic scoliosis, Epicanthus, Optic nerve hypoplasia, Kyphoscolios... ORPHA:300570
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Lower limb spasticity, Pain insensitivity, Epicanthus, Ataxia, Facial hypotonia, Rigidity, Inabil... OMIM:300260
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Scoliosis, Ptosis OMIM:615280
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Arthrogryposis, Distal, Type 2A
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... OMIM:193700
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Congenital diaphragmatic hernia, Tremor, Sparse eyebrow, Hemivertebrae, Scoliosis ORPHA:370079
Ververi-Brady Syndrome
Unsteady gait, Upslanted palpebral fissure, Scoliosis, Intention tremor, Ptosis OMIM:617982
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Optic atrophy, Abnormal form of the vertebral bodies, Ptosis ORPHA:93262
Autosomal Dominant Spastic Paraplegia Type 9A
Low back pain, Abnormality of the dorsal column of the spinal cord, Tremor, Babinski sign, Impair... ORPHA:447753
Coach Syndrome 3
Oculomotor apraxia, Ataxia, Ptosis OMIM:619113
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Scapular winging, Pain insensitivity, Epicanthus, Tremor, Kyphosis, Synophrys, Upslanted palpebra... OMIM:617061
Parkinson Disease 23, Autosomal Recessive Early-Onset
Resting tremor, Parkinsonism, Akinesia, Rigidity, Abnormal pyramidal sign, Abnormal autonomic ner... OMIM:616840
Progressive Supranuclear Palsy
Tremor, Rigidity, Unsteady gait, Abnormal synaptic transmission, Blepharospasm, Bradykinesia, Fal... ORPHA:683
2P15P16.1 Microdeletion Syndrome
Lower limb spasticity, Epicanthus, Telecanthus, Optic nerve hypoplasia, Camptodactyly of finger, ... ORPHA:261349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Waddling gait, Speech apraxia, Dystonia, Ataxia, Hyperlordosis, Tremor, Inability to walk, Chorea... OMIM:615356
Waardenburg Syndrome Type 2
Telecanthus, Aganglionic megacolon, Ptosis ORPHA:895
Wolfram Syndrome 1
Tremor, Optic atrophy, Ataxia, Ptosis OMIM:222300
Ophthalmoplegia, External, And Myopia
Spina bifida, Ptosis OMIM:311000
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Thick eyebrow, Ptosis ORPHA:444002
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Multiple Pterygium Syndrome, Escobar Variant
Multiple joint contractures, Congenital diaphragmatic hernia, Short neck, Flexion contracture, Kn... OMIM:265000
Diabetes And Deafness, Maternally Inherited
Unsteady gait, Ptosis OMIM:520000
Gm1 Gangliosidosis
Generalized dystonia, Ataxia, Camptodactyly of finger, Dystonia, Hyperlordosis, Tremor, Kyphosis,... ORPHA:354
Myasthenic Syndrome, Congenital, 24, Presynaptic
Knee flexion contracture, Distal arthrogryposis, Camptodactyly, Oculomotor apraxia, Ptosis OMIM:618198
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contractu... OMIM:619293
X-Linked Intellectual Disability Due To Gria3 Mutations
Pain insensitivity, Facial hypotonia, Kyphosis, Babinski sign, Myoclonus, Scoliosis, Eversion of ... ORPHA:364028
Terminal Osseous Dysplasia
Epicanthus, Multiple joint contractures, Telecanthus, Camptodactyly of finger, Upslanted palpebra... OMIM:300244
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Waddling gait, Limb-girdle muscle weakness, Rhabdomyolysis, Optic atrophy, Macroglossia, Difficul... OMIM:251900
Wagr Syndrome
Dysfunction of lateral corticospinal tracts, Scoliosis, Ptosis ORPHA:893
Char Syndrome
Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Autosomal Recessive Multiple Pterygium Syndrome
Skeletal muscle atrophy, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abn... ORPHA:2990
Combined Oxidative Phosphorylation Deficiency 24
Skeletal muscle atrophy, Ragged-red muscle fibers, Optic atrophy, Myopathy, Weakness of facial mu... OMIM:616239
Glycine Encephalopathy With Normal Serum Glycine
Hip contracture, Exaggerated startle response, Clonus, Flexion contracture, Elbow flexion contrac... OMIM:617301
Coffin-Siris Syndrome 3
Central diaphragmatic hernia, Macroglossia, Long eyelashes, Scoliosis, Thick eyebrow, Ptosis OMIM:614608
Microphthalmia, Syndromic 13
Kyphoscoliosis, Ptosis OMIM:300915
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Camptodactyly of finger, Scoliosis, Ptosis ORPHA:2053
Cleft Palate-Large Ears-Small Head Syndrome
Skeletal muscle atrophy, Ptosis ORPHA:2013
Autosomal Dominant Centronuclear Myopathy
Proximal muscle weakness in upper limbs, Centrally nucleated skeletal muscle fibers, Abnormality ... ORPHA:169189
Legius Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short neck OMIM:611431
Chromosome 2P16.1-P15 Deletion Syndrome
Epicanthus, Telecanthus, Optic nerve hypoplasia, Kyphoscoliosis, Camptodactyly, Blepharophimosis,... OMIM:612513
Ichthyotic Keratoderma, Spasticity, Hypomyelination, And Dysmorphic Facial Features
Optic disc pallor, Ataxia, Tremor, Babinski sign, Spastic paraplegia, Dysmetria, Spasticity OMIM:618527
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Short neck, Kyphosis, Spinal cord compression, Fused cervical vertebrae, Ptosis ORPHA:2522
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Chromosome 3Pter-P25 Deletion Syndrome
Sacral dimple, Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blephar... OMIM:613792
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Skeletal muscle atrophy, Facial palsy, Hyperlordosis, Abnormal muscle fiber morphology, Downslant... ORPHA:3068
Myasthenic Syndrome, Congenital, 22
Waddling gait, Ptosis OMIM:616224
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Gait disturbance, Joint contr... OMIM:620098
Richieri-Costa/Guion-Almeida Syndrome
Gait ataxia, Eyelid coloboma, Spina bifida occulta, Downslanted palpebral fissures, Ptosis OMIM:268850
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Hip contracture, Vertebral fusion, Ptosis, Elbow contracture, Multiple pterygia, Short neck, Elbo... OMIM:178110
Spinocerebellar Ataxia 8
Incoordination, Tremor, Abnormal pyramidal sign, Progressive cerebellar ataxia, Spasticity OMIM:608768
Autosomal Dominant Progressive External Ophthalmoplegia
Tremor, Quadriceps muscle weakness, Ragged-red muscle fibers, Gait ataxia, Hypertonia, Ataxia, Fa... ORPHA:254892
Neurodegeneration With Brain Iron Accumulation 1
Eyelid apraxia, Decreased muscle mass, Ataxia, Parkinsonism, Akinesia, Tremor, Rigidity, Babinski... OMIM:234200
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ptosis, Ataxia, Facial palsy, Dysesthesia, Babinski si... ORPHA:79138
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Oculopharyngodistal Myopathy 1
Ptosis, Autophagic vacuoles, Facial palsy, Ataxia, Tremor, Bilateral ptosis, Distal amyotrophy, D... OMIM:164310
Sandifer Syndrome
Torticollis, Abnormal posturing, Decreased cervical spine mobility ORPHA:71272
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Dystonia, Akinesia, Short neck, Kyphoscoliosis, Flexion contracture, Elbow fle... OMIM:618947
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Ataxia, Highly arched eyebrow, Scoliosis, Ptosis ORPHA:2318
Joubert Syndrome 26
Ptosis OMIM:616784
3Mc Syndrome
Ptosis, Telecanthus, Diastasis recti, Highly arched eyebrow, Hyperlordosis, Prominent coccyx, Sco... ORPHA:293843
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ragged-red muscle fibers, Generalized amyotrophy, Ptosis OMIM:613561
Cerebral Creatine Deficiency Syndrome 1
Speech apraxia, Broad-based gait, Aganglionic megacolon, Hypertonia, Gait disturbance, Poor hand-... OMIM:300352
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased muscle mass, Ragged-red muscle fibers, Abnor... ORPHA:298
Shashi-Pena Syndrome
Ptosis, Epicanthus, Highly arched eyebrow, Kyphosis, Synophrys, Long eyelashes, Scoliosis, Cervic... OMIM:617190
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Oromotor apraxia, Flexion contracture, Blepharophimosis, Spasticity, Downslanted palpebral fissur... ORPHA:391372
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis, Sacral dimple, Abnormal form of the vertebral bodies, Posterior fusion of lumbosacral ver... ORPHA:2064
Joubert Syndrome 3
Epicanthus, Ataxia, Highly arched eyebrow, Oculomotor apraxia, Ptosis OMIM:608629
Chromosome 17P13.1 Deletion Syndrome
Sacral dimple, Epicanthus, Telecanthus, Highly arched eyebrow, Short neck, Spina bifida, Synophry... OMIM:613776
Fibrosis Of Extraocular Muscles, Congenital, 1
Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscles, Bilateral ptosi... OMIM:135700
Chromosome 3Q13.31 Deletion Syndrome
Kyphosis, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:615433
Crouzon Syndrome
Conjunctivitis, Abnormal sacrum morphology, Optic atrophy, Ptosis ORPHA:207
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Blepharophimosis, Telecanthus, Ptosis OMIM:606772
Angelman Syndrome
Optic disc pallor, Broad-based gait, Ataxia, Tremor, Inability to walk, Optic atrophy, Myoclonus,... ORPHA:72
Axial Spondylometaphyseal Dysplasia
Aplasia/Hypoplasia of the vertebrae, Thoracic scoliosis, Posterior wedging of vertebral bodies, O... ORPHA:168549
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Short neck, Synophrys, Long eyelashes, Ptosis OMIM:300882
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Ptosis, Torticollis, Pain insensitivity, Telecanthus, Short neck, Inability to walk by childhood/... OMIM:620224
Takenouchi-Kosaki Syndrome
Ataxia, Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fiss... OMIM:616737
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Optic atrophy, Scoliosis, Blepharophimosis, Broad eyebrow, Ptosis ORPHA:494344
Unilateral Polymicrogyria
Involuntary movements, Spastic tetraplegia, Hemiparesis, Poor fine motor coordination, Pseudobulb... ORPHA:268943
Joubert Syndrome With Hepatic Defect
Ataxia, Highly arched eyebrow, Tremor, Optic disc coloboma, Gait disturbance, Scoliosis, Oculomot... ORPHA:1454
Iatrogenic Botulism
Ptosis, Orthostatic hypotension, Cerebral palsy, Diaphragmatic paralysis ORPHA:254509
Frontoocular Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:605321
Aceruloplasminemia
Torticollis, Ataxia, Parkinsonism, Involuntary movements, Akinesia, Tremor, Rigidity, Chorea, Lim... ORPHA:48818
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Clonus, Tremor, Type 1 fibers relatively smaller than type 2 fibers, Ptosis OMIM:619424
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Short neck, Long palpebral fissure, Ptosis OMIM:614583
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Joubert Syndrome 14
Epicanthus, Ataxia, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis OMIM:614424
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Spina bifida occulta, Optic atrophy, Ptosis ORPHA:1185
Dystonia 2, Torsion, Autosomal Recessive
Tremor, Torticollis, Blepharospasm, Torsion dystonia OMIM:224500
Combined Oxidative Phosphorylation Deficiency 18
Tremor, Skeletal muscle atrophy, Dysmetria OMIM:615578
Fountain Syndrome
Epicanthus, Spina bifida, Kyphosis, Synophrys, Abnormal form of the vertebral bodies, Scoliosis, ... ORPHA:3219
Hypermanganesemia With Dystonia 1
Dystonia, Parkinsonism, Tremor, Rigidity, Bradykinesia, Poor fine motor coordination, Steppage ga... OMIM:613280
Tetanus
Tremor, Rigidity, Opisthotonus, Hypertonia, Abnormal autonomic nervous system physiology, Autonom... ORPHA:3299
Developmental And Epileptic Encephalopathy 110
Pain insensitivity, Chorea, Spasticity, Ptosis OMIM:620149
Microcephaly-Capillary Malformation Syndrome
Spastic tetraparesis, Optic atrophy, Myoclonus, Right ventricular hypertrophy, Ptosis OMIM:614261
X-Linked Intellectual Disability, Cabezas Type
Broad-based gait, Epicanthus, Camptodactyly of finger, Short neck, Tremor, Kyphosis, Synophrys, S... ORPHA:85293
Refsum Disease, Classic
Limb muscle weakness, Ataxia, Somatic sensory dysfunction, Ptosis OMIM:266500
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral... OMIM:301069
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Facial hypotonia, Upslanted palpebral fissure, Scoliosis, Downslanted palpebral fissu... OMIM:618659
Schuurs-Hoeijmakers Syndrome
Speech apraxia, Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures,... OMIM:615009
Coach Syndrome 1
Optic disc pallor, Ataxia, Dystonia, Oculomotor apraxia, Spasticity, Ptosis OMIM:216360
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Weakness of facial musculature, Facial palsy, Ptosis OMIM:616323
Hypotonia-Cystinuria Syndrome
Ragged-red muscle fibers, Long eyelashes, Facial palsy, Ptosis OMIM:606407
Arthrogryposis, Distal, Type 5D
Decreased muscle mass, Highly arched eyebrow, Hyperlordosis, Short neck, Lagophthalmos, Elbow fle... OMIM:615065
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ragged-red muscle fibers, Abnormal mitochondria in muscle tissue, Ptosis ORPHA:663
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Progressive spasticity, Ptosis OMIM:619972
Li-Campeau Syndrome
Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis OMIM:619189
Intellectual Developmental Disorder, Autosomal Recessive 65
Unsteady gait, Gait ataxia, Contracture of the proximal interphalangeal joint of the 4th finger, ... OMIM:618109
Aarskog-Scott Syndrome
Epicanthus, Camptodactyly of finger, Short neck, Downslanted palpebral fissures, Abnormal vertebr... ORPHA:915
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Scoli... OMIM:617360
Trisomy 17P
Skeletal muscle atrophy, Short neck, Flexion contracture, Macroglossia, Hypertonia, Scoliosis, Do... ORPHA:261290
Orofaciodigital Syndrome Xvi
Ataxia, Inability to walk, Oculomotor apraxia, Short palpebral fissure, Ptosis OMIM:617563
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Cervical platyspondyly, Scoliosis, Ptosis OMIM:618731
Gabriele-De Vries Syndrome
Waddling gait, Telecanthus, Facial hypotonia, Tremor, Sparse eyebrow, Epiblepharon, Distal arthro... OMIM:617557
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis ORPHA:44
Young-Onset Parkinson Disease
Tremor, Rigidity, Bradykinesia, Abnormal autonomic nervous system physiology, Gait imbalance, Dys... ORPHA:2828
Lateral Meningocele Syndrome
Vertebral fusion, Decreased muscle mass, Telecanthus, Tethered cord, Short neck, Kyphosis, Dural ... OMIM:130720
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619989
Congenital Disorder Of Glycosylation, Type Iio
Skeletal muscle atrophy, Downslanted palpebral fissures, Ptosis OMIM:616828
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Skeletal muscle atrophy, Thoracic scoliosis, Kyphosis, Knee flexion contracture, Long palpebral f... OMIM:603387
Combined Oxidative Phosphorylation Deficiency 47
Ptosis, Platyspondyly, Short neck OMIM:618958
Myasthenia Gravis
Fatigable weakness, Limb muscle weakness, Facial palsy, Ptosis OMIM:254200
Miller Fisher Syndrome
Ataxia, Facial palsy, Paresthesia, Tetraparesis, Ptosis ORPHA:98919
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis, Scoliosis, Hyperlordosis ORPHA:2511
Chromosome 5Q12 Deletion Syndrome
Sacral dimple, Epicanthus, Short neck, Macroglossia, Long palpebral fissure, Ptosis OMIM:615668
Migraine, Familial Hemiplegic, 2
Tremor, Dysmetria, Gait ataxia, Hemiparesis, Apraxia, Episodic ataxia, Hemiplegia OMIM:602481
Carey-Fineman-Ziter Syndrome
Skeletal muscle atrophy, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle, Myopat... ORPHA:1358
Myopathy With Lactic Acidosis, Hereditary
Skeletal muscle atrophy, Bilateral ptosis, Rhabdomyolysis, Myopathy, Increased intramyocellular l... OMIM:255125
Arthrogryposis, Distal, Type 1A
Hip contracture, Elbow flexion contracture, Knee flexion contracture, Scoliosis, Camptodactyly, A... OMIM:108120
Fetal Trimethadione Syndrome
Epicanthus, Synophrys, Scoliosis, Ptosis ORPHA:1913
Lateral Meningocele Syndrome
Epicanthus, Hyperlordosis, Short neck, Kyphosis, Abnormal form of the vertebral bodies, Dural ect... ORPHA:2789
Cluster Headache, Familial
Ptosis OMIM:119915
Tick-Borne Encephalitis
Speech apraxia, Skeletal muscle atrophy, Somatic sensory dysfunction, Incoordination, Back pain, ... ORPHA:297
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Lower limb spasticity, Foot joint contracture, Ataxia, Tremo... ORPHA:90321
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Camptodactyly, Blepharophimosis, Cervical C2/C3 vertebral fusion, Downslanted palpebral fissures,... OMIM:617333
Perry Syndrome
Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Dystonia, Short stepped shuffling gait OMIM:168605
3Mc Syndrome 2
Ptosis, Torticollis, Diastasis recti, Hypoplasia of the musculature, Partial abdominal muscle age... OMIM:265050
Congenital Ptosis
Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Congenital facial diplegia, Epicanthu... ORPHA:91411
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Ataxia, Optic atrophy, Increased intramyocellular lipid droplets, Truncal ataxia, Weakness of fac... OMIM:220110
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Marden-Walker Syndrome
Decreased muscle mass, Epicanthus, Short neck, Kyphosis, Congenital contracture, Scoliosis, Campt... OMIM:248700
Refsum Disease
Skeletal muscle atrophy, Ataxia, Hemiplegia/hemiparesis, Abnormal pyramidal sign, Ptosis ORPHA:773
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Broad-based gait, Optic atrophy, Ptosis OMIM:609037
Methylmalonic Aciduria And Homocystinuria, Cblj Type
Abnormal posturing OMIM:614857
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Blepharophimosis, Telecanthus, Ptosis ORPHA:397973
Abetalipoproteinemia
Impaired vibratory sensation, Broad-based gait, Ataxia, Kyphoscoliosis, Impaired distal proprioce... ORPHA:14
Monosomy 18P
Epicanthus, Generalized dystonia, Kyphoscoliosis, Short neck, Ptosis ORPHA:1598
Leigh Syndrome
Skeletal muscle atrophy, Multiple joint contractures, Ataxia, Involuntary movements, Chorea, Opti... ORPHA:506
Carey-Fineman-Ziter Syndrome 1
Skeletal muscle atrophy, Epicanthus, Facial palsy, Hypoplasia of the musculature, Spinal rigidity... OMIM:254940
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Facial hypotonia, Limb joint contracture, Lagophthalmos, Inability to walk, Ac... ORPHA:404454
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ataxia, Ptosis OMIM:619046
Tetrasomy 12P
Telecanthus, Short neck, Sparse eyebrow, Upslanted palpebral fissure, Ptosis ORPHA:884
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Short neck, Optic disc coloboma,... ORPHA:2995
Frontonasal Dysplasia 1
Epicanthus, Pectoral muscle hypoplasia/aplasia, Camptodactyly, Joint contracture of the hand, Ptosis OMIM:136760
Myasthenic Syndrome, Congenital, 19
Ptosis, Increased variability in muscle fiber diameter, Facial palsy, Spinal rigidity OMIM:616720
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Highly arched eyebrow, Scoliosis, Abnormal vertebral morphology, Ptosis ORPHA:2319
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Epicanthus, Tremor, Kyphosis, Synophrys, Congenital ptosis, Gait ataxia, Scoliosis, Slanting of t... ORPHA:476126
Ascher Syndrome
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology ORPHA:1253
Triosephosphate Isomerase Deficiency
Optic disc pallor, Skeletal muscle atrophy, Tremor, Kyphosis, Unsteady gait, Myopathy, Dystonia, ... OMIM:615512
Native American Myopathy
Skeletal muscle atrophy, Inability to walk, Abnormality of skeletal muscle fiber size, Bilateral ... ORPHA:168572
Joubert Syndrome 1
Optic disc pallor, Hemifacial spasm, Epicanthus, Ataxia, Highly arched eyebrow, Optic disc colobo... OMIM:213300
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Kyphosis, Upslanted palpebral fissure, Contracture of the proximal inter... OMIM:618050
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Camptodactyly of finger, Hyperlordosis, Vertebral segmentation defect, Scoliosis, Ptosis ORPHA:1323
Craniosynostosis 3
Ptosis OMIM:615314
Metachromatic Leukodystrophy
Incoordination, Ataxia, Decreased nerve conduction velocity, Tremor, Tip-toe gait, Gait disturban... ORPHA:512
Alternating Hemiplegia Of Childhood
Facial hypotonia, Ataxia, Tremor, Rigidity, Chorea, Episodic hemiplegia, Abnormal pyramidal sign,... ORPHA:2131
Distal Duplication 6P
Sacral dimple, Short neck, Abnormal eyelash morphology, Blepharophimosis, Ptosis ORPHA:1745
Codas Syndrome
Epicanthus, Abnormal form of the vertebral bodies, Coronal cleft vertebrae, Scoliosis, Ptosis ORPHA:1458
Coffin-Siris Syndrome 5
Long eyelashes, Thick eyebrow, Ptosis OMIM:616938
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Lacrimal duct stenosis, Optic atrophy, Dystonia, Ptosis ORPHA:457193
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency
Tremor, Myopathy, Rhabdomyolysis, Ataxia ORPHA:713
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ataxia, Myoclonus, Ptosis OMIM:560000
Congenital Disorder Of Deglycosylation 1
Ptosis, Pain insensitivity, Facial hypotonia, Involuntary movements, Chorea, Intrinsic hand muscl... OMIM:615273
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Ataxia, Myopathy, Shoulder girdle muscle weakness, Increased intramyocellular lipid dr... ORPHA:98907
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Short neck, Almond-shaped palpebral fissure, Scoliosis, Downsl... OMIM:619087
Joubert Syndrome 37
Oculomotor apraxia, Lumbar hyperlordosis, Ptosis OMIM:619185
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Tethered cord, Highly arched eyebrow, Synophrys, Lower limb hypertonia, Syringomyelia, Downslante... OMIM:616728
Noonan Syndrome 8
Epicanthus, Short neck, Left ventricular hypertrophy, Downslanted palpebral fissures, Ptosis OMIM:615355
Coffin-Siris Syndrome 2
Macroglossia, Long eyelashes, Thick eyebrow, Ptosis OMIM:614607
Craniosynostosis 6
Spina bifida occulta, Scoliosis, Ptosis OMIM:616602
Goldberg-Shprintzen Syndrome
Ptosis, Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Short neck, Synophrys, Downsla... OMIM:609460
Bachmann-Bupp Syndrome
Lower limb spasticity, Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral ... OMIM:619075
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Decreased muscle mass, Broad-based gait, Kyphoscoliosis, Short neck, Sparse eyebrow, Synophrys, S... OMIM:309583
Hartsfield Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Adult-Onset Dystonia-Parkinsonism
Eyelid apraxia, Tremor, Rigidity, Parkinsonism with favorable response to dopaminergic medication... ORPHA:199351
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Ptosis, Pain insensitivity, Hyperlordosis, Hypoplasia of the odontoid process, Flexion contractur... OMIM:616007
Kury-Isidor Syndrome
Sacral dimple, Short neck, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:619762
Toxin-Mediated Infectious Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:230800
Congenital Myopathy 13
Skeletal muscle atrophy, Telecanthus, Kyphoscoliosis, Fatty replacement of skeletal muscle, Flexi... OMIM:255995
Mucopolysaccharidosis, Type Ii
Papilledema, Short neck, Kyphosis, Flexion contracture, Macroglossia, Cervical cord compression, ... OMIM:309900
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Aganglionic megacolon, Ptosis ORPHA:66629
Schwartz-Jampel Syndrome
Skeletal muscle atrophy, Short neck, Hypertonia, Wrist flexion contracture, Abnormally ossified v... ORPHA:800
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Vertebral segmentation defect, Ptosis ORPHA:1915
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Ataxia, Tremor, Optic atrophy, Abnormal pyramidal sign, Abnormality of extrapyramidal motor funct... OMIM:612199
Loeys-Dietz Syndrome 4
Torticollis, Dural ectasia, Scoliosis, Spondylolisthesis, Downslanted palpebral fissures, Ptosis OMIM:614816
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Saethre-Chotzen Syndrome
Epicanthus, Hyperlordosis, Optic atrophy, Abnormal form of the vertebral bodies, Blepharospasm, S... ORPHA:794
Holoprosencephaly
Epicanthus, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Chorea, Synophrys... ORPHA:2162
Ruvalcaba Syndrome
Kyphosis, Scoliosis, Abnormal vertebral epiphysis morphology, Downslanted palpebral fissures, Ptosis ORPHA:3121
Kearns-Sayre Syndrome
Ragged-red muscle fibers, Ataxia, Ptosis OMIM:530000
Combined Oxidative Phosphorylation Deficiency 15
Optic disc pallor, Incoordination, Ataxia, Tremor, Unsteady gait, Optic atrophy, Abnormal pyramid... OMIM:614947
Rhyns Syndrome
Ptosis ORPHA:140976
Meckel Syndrome, Type 10
Epicanthus, Sacral dimple, Narrow palpebral fissure, Camptodactyly, Ptosis OMIM:614175
Frontofacionasal Dysplasia
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... ORPHA:1791
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Wolf-Hirschhorn Syndrome
Sacral dimple, Epicanthus, Ataxia, Tethered cord, Congenital diaphragmatic hernia, Highly arched ... ORPHA:280
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Vertebral fusion, Sacral dimple, Ptosis, Epicanthus, Highly arched eyebrow, Short neck, Synophrys... OMIM:213980
Noonan Syndrome 4
Epicanthus, Short neck, Sparse eyebrow, Bilateral ptosis, Scoliosis, Downslanted palpebral fissur... OMIM:610733
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Sparse eyebrow, Inability to walk, Kyphosis, Difficulty walking, Scoliosis, Spasticit... ORPHA:464738
2Q31.1 Microdeletion Syndrome
Epicanthus, Camptodactyly of finger, Short neck, Kyphosis, Synophrys, Optic disc coloboma, Verteb... ORPHA:251014
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Stickler Syndrome, Type Vi
Downslanted palpebral fissures, Ptosis OMIM:620022
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Short neck, Absent eyelashes, Optic nerve dysplasia, Hypertonia, Scol... OMIM:115150
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Somatic sensory dysfunction, Ataxia, Spasticity, Ptosis OMIM:615510
Noonan Syndrome 5
Epicanthus, Short neck, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:611553
Agel Amyloidosis
Ataxia, Facial palsy, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Orthostatic... ORPHA:85448
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bilateral ptosis, Unilateral vocal cord paralysis, Optic atrophy, Flexion contracture of the 2nd ... ORPHA:324540
Isolated Complex I Deficiency
Optic disc pallor, Ataxia, Optic neuropathy, Abnormal mitochondria in muscle tissue, Ptosis ORPHA:2609
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Lower limb spasticity, Spasticity, Spastic paraplegia, Ptosis ORPHA:2824
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Short Stature And Facioauriculothoracic Malformations
Ptosis, Abnormal odontoid process morphology, Short neck OMIM:609654
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Kyphosis, Scoliosis, Spasticity, Downslanted palpebral fissures, Ptosis OMIM:616449
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Upslanted palpebral fissure, Fused cervical vertebrae, Gait imbalance, Short palpebra... OMIM:617159
Emanuel Syndrome
Sacral dimple, Multiple joint contractures, Hooded eyelid, Congenital diaphragmatic hernia, Kypho... ORPHA:96170
Teebi Hypertelorism Syndrome 2
Upper eyelid coloboma, Thick eyebrow, Ptosis OMIM:619736
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Short neck, Long palpebral fissure, Ptosis OMIM:243310
Borjeson-Forssman-Lehmann Syndrome
Skeletal muscle atrophy, Blepharophimosis, Camptodactyly of toe, Thick eyebrow, Ptosis ORPHA:127
Galloway-Mowat Syndrome 1
Epicanthus, Dystonia, Ataxia, Optic atrophy, Spastic tetraplegia, Camptodactyly, Spasticity, Join... OMIM:251300
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Optic atrophy, Ptosis OMIM:220500
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Impaired pain sensation, Macroglossia, Vertebral segmentation defect, Syringomyelia, Abnormal aut... ORPHA:453499
Purpura Simplex
Ptosis OMIM:179000
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Jacobsen Syndrome
Epicanthus, Telecanthus, Short neck, Abnormal eyelash morphology, Flexion contracture, Optic atro... OMIM:147791
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology, Abnormal form of the vertebral bodies ORPHA:93941
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Scarf Syndrome
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... ORPHA:3134
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Phelan-Mcdermid Syndrome
Sacral dimple, Broad-based gait, Epicanthus, Palpebral edema, Impaired pain sensation, Unsteady g... OMIM:606232
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Upslanted palpebral fissure, Synophrys, Ptosis OMIM:616083
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Skeletal muscle atrophy, Ataxia, Optic neuropathy, Ragged-red muscle fibers, B... OMIM:252010
22Q11.2 Duplication Syndrome
Epicanthus, Downslanted palpebral fissures, Scoliosis, Ptosis ORPHA:1727
3Mc Syndrome 1
Conjunctival telangiectasia, Ptosis, Sacral dimple, Telecanthus, Diastasis recti, Highly arched e... OMIM:257920
Weiss-Kruszka Syndrome
Epicanthus, Highly arched eyebrow, Left ventricular hypertrophy, Downslanted palpebral fissures, ... OMIM:618619
Nail-Patella Syndrome
Back pain, Biceps aplasia, Lumbar hyperlordosis, Spina bifida, Absence of pectoralis minor muscle... OMIM:161200
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:3236
Combined Oxidative Phosphorylation Deficiency 12
Spastic tetraparesis, Babinski sign, Ragged-red muscle fibers, Bradykinesia, Dystonia, Ptosis OMIM:614924
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Myopathy, Ptosis ORPHA:257
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Noonan Syndrome 9
Sparse eyebrow, Ptosis, Downslanted palpebral fissures, Short neck OMIM:616559
Cardiofaciocutaneous Syndrome
Epicanthus, Short neck, Abnormal eyelash morphology, Optic atrophy, Sparse or absent eyelashes, S... ORPHA:1340
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Speech apraxia, Ptosis, Telecanthus, Myoclonus, Downslanted palpebral fissures, Sparse lateral ey... ORPHA:314655
Koolen-De Vries Syndrome
Vertebral fusion, Epicanthus, Kyphosis, Upslanted palpebral fissure, Vertebral segmentation defec... ORPHA:96169
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Supranuclear Palsy, Progressive, 1
Eyelid apraxia, Axial dystonia, Parkinsonism, Akinesia, Tremor, Rigidity, Bradykinesia, Falls, Ga... OMIM:601104
Ehlers-Danlos Syndrome, Classic-Like, 2
Thoracic scoliosis, Short neck, Bilateral ptosis, Facet joint arthrosis, Thin eyebrow, Cervical C... OMIM:618000
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Skeletal muscle atrophy, Ragged-red muscle fibers, Flexion contracture, Rhabdomyolysis, Unsteady ... ORPHA:17
Vici Syndrome
Epicanthus, Myopathy, Left ventricular hypertrophy, Abnormal posturing, Ptosis OMIM:242840
Ataxia-Telangiectasia
Conjunctival telangiectasia, Ataxia, Tremor, Inability to walk, Slurred speech, Choreoathetosis, ... OMIM:208900
Multiple Pterygium-Malignant Hyperthermia Syndrome
Skeletal muscle atrophy, Congenital muscular torticollis, Camptodactyly of finger, Kyphosis, Scol... ORPHA:2215
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Aicardi-Goutières Syndrome
Myositis, Multiple joint contractures, Extrapyramidal muscular rigidity, Dystonia, Tremor, Hemipl... ORPHA:51
Chromosome 18P Deletion Syndrome
Epicanthus, Short neck, Hypomimic face, Dystonia, Ptosis OMIM:146390
X-Linked Intellectual Disability, Snyder Type
Unilateral ptosis, Decreased muscle mass, Involuntary movements, Kyphoscoliosis, Sparse eyebrow, ... ORPHA:3063
Acrofrontofacionasal Dysostosis
Camptodactyly of finger, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of t... ORPHA:1784
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Ptosis, Type 2 muscle fiber atrophy, Proximal amyotrophy OMIM:159400
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Oculocerebrocutaneous Syndrome
Hemiplegia/hemiparesis, Eyelid coloboma, Congenital diaphragmatic hernia, Ptosis ORPHA:1647
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow, Short neck OMIM:619955
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Glycogen Storage Disease Due To Acid Maltase Deficiency
Facial hypotonia, Glycogen accumulation in muscle fiber lysosomes, Hyperlordosis, Inability to wa... ORPHA:365
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Tethered cord, Optic atrophy, Hypertonia, Ptosis OMIM:618164
Giant Cell Arteritis
Optic atrophy, Paresthesia, Ataxia, Ptosis ORPHA:397
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Muenke Syndrome
Downslanted palpebral fissures, Ptosis OMIM:602849
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Thoracolumbar scoliosis, Short neck, Platyspondyly, Scoliosis, Ptosis OMIM:616723
20Q11.2 Microduplication Syndrome
Epicanthus, Sacral dimple, Palpebral edema, Abnormal shape of the palpebral fissure, Lingual dyst... ORPHA:363659
Koolen-De Vries Syndrome
Vertebral fusion, Sacral dimple, Ptosis, Epicanthus, Kyphosis, Hypotrophy of the small hand muscl... OMIM:610443
Cenani-Lenz Syndrome
Ptosis, Abnormal form of the vertebral bodies, Scoliosis, Downslanted palpebral fissures, Ectropion ORPHA:3258
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Epicanthus, Telecanthus, Ovoid vertebral bodies, Sparse eyebrow, Upslanted pal... OMIM:244450
Aarskog-Scott Syndrome
Short neck, Hypoplasia of the odontoid process, Cervical spine hypermobility, Scoliosis, Downslan... OMIM:305400
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Sacral dimple, Aganglionic megacolon, Narrow palpebral fissure, Downslanted palpebral... OMIM:613603
Acrocraniofacial Dysostosis
Telecanthus, Abnormal form of the vertebral bodies, Spina bifida occulta, Downslanted palpebral f... ORPHA:949
Distal Deletion 3P
Sacral dimple, Epicanthus, Telecanthus, Short neck, Blepharophimosis, Spasticity, Abnormal vestib... ORPHA:1620
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Ataxia, Highly arched eyebrow, Synophrys, Scoliosis, Epicanthus inversus, Ptosis OMIM:617062
Reni Syndrome
Ataxia, Ptosis OMIM:617575
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Knee flexion contracture, Difficulty walking, Weakness of... OMIM:617239
Kosaki Overgrowth Syndrome
Thoracolumbar scoliosis, Xanthelasma, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:616592
Pde4D Haploinsufficiency Syndrome
Irregular vertebral endplates, Narrow palpebral fissure, Long palpebral fissure, Caudal interpedi... ORPHA:439822
Foodborne Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis, Paralysis ORPHA:228371
Wound Botulism
Ptosis, Cerebral palsy, Diaphragmatic paralysis ORPHA:178475
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2496
Ohdo Syndrome
Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis OMIM:249620
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Skeletal muscle atrophy, Poor coordination, Flexion contracture, Optic atrophy, Spastic diplegia,... OMIM:309590
Kallmann Syndrome
Ataxia, Tremor, Paraplegia, Gait disturbance, Ptosis ORPHA:478
Chilton-Okur-Chung Neurodevelopmental Syndrome
Ptosis, Septo-optic dysplasia, Hooded eyelid, Aplasia of the right hemidiaphragm, Highly arched e... OMIM:619841
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis ORPHA:3440
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Short neck, Up... OMIM:617506
Oculofaciocardiodental Syndrome
Highly arched eyebrow, Flexion contracture of the 2nd toe, Scoliosis, Flexion contracture of the ... ORPHA:2712
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:1778
Cardiac-Valvular Ehlers-Danlos Syndrome
Thoracolumbar scoliosis, Kyphoscoliosis, Left ventricular hypertrophy, Tendon rupture, Thick eyeb... ORPHA:230851
Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies
Epicanthus, Kyphosis, Bilateral camptodactyly, Synophrys, Bilateral ptosis, Scoliosis OMIM:619557
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Limb muscle weakness, Facial palsy, Ptosis OMIM:610131
Duane Retraction Syndrome
Skeletal muscle atrophy, Short neck, Blepharophimosis, Abnormal form of the vertebral bodies, Ble... ORPHA:233
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Thoracic kyphoscoliosis, Lumbar hyperlordosis, Increased vertebral height, Camptodactyly, Ptosis OMIM:613385
Acrofrontofacionasal Dysostosis 2
Sacral dimple, Downslanted palpebral fissures, Ptosis OMIM:239710
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Van Maldergem Syndrome 1
Sacral dimple, Epicanthus, Scoliosis, Camptodactyly, Blepharophimosis, Short palpebral fissure, P... OMIM:601390
Scarf Syndrome
Epicanthus, Diastasis recti, Short neck, Abnormal form of the vertebral bodies, Downslanted palpe... OMIM:312830
Joubert Syndrome 21
Ataxia, Optic atrophy, Megalopapilla, Oculomotor apraxia, Ptosis OMIM:615636
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital fibrosis of... ORPHA:45358
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Highly arched eyebrow, Sparse eyebrow, Synophrys, Flexion contracture, Optic atrophy, Upslanted p... ORPHA:487796
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis ORPHA:73246
Joubert Syndrome 30
Ptosis OMIM:617622
Frontorhiny
Epicanthus, Lumbar hyperlordosis, Camptodactyly of finger, Scoliosis, Ptosis ORPHA:391474
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissu... OMIM:613026
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Broad-based gait, Paralysis, Thoracolumbar kyphosis, Spastic paraplegia, Limb ataxia... ORPHA:2072
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Koolen-De Vries Syndrome Due To A Point Mutation
Hand muscle atrophy, Speech apraxia, Sacral dimple, Ptosis, Epicanthus, Spina bifida, Hyperlordos... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Hand muscle atrophy, Speech apraxia, Sacral dimple, Ptosis, Epicanthus, Spina bifida, Hyperlordos... ORPHA:363958
3Mc Syndrome 3
Sacral dimple, Diastasis recti, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:248340
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology, Abnormality of extrapyramidal motor function, Parkinsonis... ORPHA:100070
Pfeiffer Syndrome
Ptosis, Hyperlordosis, Short neck ORPHA:710
Buratti-Harel Syndrome
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619314
Loeys-Dietz Syndrome 5
Ptosis, Scapular winging, Decreased muscle mass, Kyphoscoliosis, Cervical spine instability, Down... OMIM:615582
Cornelia De Lange Syndrome 1
Congenital diaphragmatic hernia, Short neck, Curly eyelashes, Highly arched eyebrow, Synophrys, O... OMIM:122470
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Hypertonia, Ptosis ORPHA:2031
Moebius Syndrome
Skeletal muscle atrophy, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle, Arthro... ORPHA:570
Oculogastrointestinal Muscular Dystrophy
Skeletal muscle atrophy, Myopathy, Ptosis ORPHA:1876
8Q21.11 Microdeletion Syndrome
Epicanthus, Camptodactyly of finger, Short neck, Blepharophimosis, Downslanted palpebral fissures... ORPHA:284160
Orthostatic Hypotension 1
Weakness of facial musculature, Orthostatic hypotension, Ptosis OMIM:223360
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Optic nerve hypoplasia, Impaired pain sensation, Inability to walk, Type 1 muscle fiber atrophy, ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Optic nerve hypoplasia, Impaired pain sensation, Inability to walk, Type 1 muscle fiber atrophy, ... ORPHA:352665
Intellectual Developmental Disorder, Autosomal Dominant 29
Lumbar hyperlordosis, Hyperlordosis, Synophrys, Hypertonia, Downslanted palpebral fissures, Short... OMIM:616078
Rubinstein-Taybi Syndrome
Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpeb... ORPHA:783
Kbg Syndrome
Vertebral fusion, Telecanthus, Short neck, Synophrys, Vertebral arch anomaly, Thoracic kyphosis, ... OMIM:148050
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Short neck, Synophrys, Nasolacr... OMIM:610759
Spondylodysplastic Ehlers-Danlos Syndrome
Multiple joint contractures, Congenital kyphoscoliosis, Optic nerve hypoplasia, Kyphoscoliosis, O... ORPHA:536471
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Short neck, Camptodactyly, Downslanted palpebral fissures, Short palpebral fissure, P... OMIM:614230
Multiple Synostoses Syndrome 1
Waddling gait, Hypoplastic spinal processes, Spinal canal stenosis, Upslanted palpebral fissure, ... OMIM:186500
Beck-Fahrner Syndrome
Facial hypotonia, Lacrimal duct stenosis, Ptosis OMIM:618798
Noonan Syndrome 10
Epicanthus, Short neck, Sparse eyebrow, Scoliosis, Left ventricular hypertrophy, Downslanted palp... OMIM:616564
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Rigidity, Abnorm... ORPHA:2526
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Downslanted palpebral fissures, Optic atrophy, Ptosis ORPHA:1555
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Broad-based gait, Epicanthus, Hemiparesis, Macroglossia, Downslanted palpebral fissures, Thick ey... ORPHA:369950
X-Linked Mandibulofacial Dysostosis
Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis ORPHA:1131
Au-Kline Syndrome
Sacral dimple, Thoracolumbar scoliosis, Lagophthalmos, Vertebral segmentation defect, Syringomyel... OMIM:616580
Acrofrontofacionasal Dysostosis 1
Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Ptosis OMIM:201180
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Lymphedema-Distichiasis Syndrome
Ptosis, Spinal arachnoid cyst, Conjunctivitis, Distichiasis, Ectropion ORPHA:33001
Cohen-Gibson Syndrome
Epicanthus, Poor coordination, Flexion contracture, Gait disturbance, Scoliosis, Camptodactyly, D... OMIM:617561
Kabuki Syndrome
Congenital diaphragmatic hernia, Highly arched eyebrow, Vertebral clefting, Hemivertebrae, Abnorm... ORPHA:2322
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:104350
Van Maldergem Syndrome 2
Sacral dimple, Epicanthus, Narrow palpebral fissure, Scoliosis, Blepharophimosis, Short palpebral... OMIM:615546
Inhalational Botulism
Ptosis, Paralysis ORPHA:254504
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Trichohepatoneurodevelopmental Syndrome
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Macroglossia, Distal arthrogry... OMIM:618268
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, C1-C2 vertebral abnormality, Scoliosis, Shallow orbits, Joint contracture of the han... OMIM:182212
Congenital Disorder Of Glycosylation, Type 2V
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619493
Infant Botulism
Keratoconjunctivitis sicca, Cerebral palsy, Ptosis ORPHA:178478
Proboscis Lateralis
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp... ORPHA:141099
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis ORPHA:2988
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Ptosis ORPHA:73272
Cdags Syndrome
Ptosis, Sparse eyelashes, Sparse eyebrow, Kyphosis, Ectropion OMIM:603116
Arboleda-Tham Syndrome
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper limb amyotrophy, ... OMIM:616268
Glycogen Storage Disease Xii
Epicanthus, Short neck, Myopathy, Muscle fiber splitting, Increased variability in muscle fiber d... OMIM:611881
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... ORPHA:572333
Aase-Smith Syndrome I
Flexion contracture, Ptosis OMIM:147800
Marden-Walker Syndrome
Skeletal muscle atrophy, Camptodactyly of finger, Kyphosis, Abnormal form of the vertebral bodies... ORPHA:2461
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Short neck, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:217980
Helsmoortel-Van Der Aa Syndrome
Epicanthus, Facial palsy, Hyperlordosis, Bilateral ptosis, Ectropion of lower eyelids, Upslanted ... OMIM:615873
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Skeletal muscle atrophy, Kyphosis, Scoliosis, Ptosis ORPHA:1969
Smith-Lemli-Opitz Syndrome
Epicanthus, Aganglionic megacolon, Congenital diaphragmatic hernia, Short neck, Abnormal eyelash ... ORPHA:818
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Diastasis recti, Scoliosis, Hooded upper eyelid, Ptosis OMIM:618548
Ohdo Syndrome, X-Linked
Epicanthus, Sparse eyebrow, Scoliosis, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:300895
Acro-Renal-Ocular Syndrome
Vertebral fusion, Epicanthus, Aganglionic megacolon, Optic disc coloboma, Vertebral segmentation ... ORPHA:959
Autosomal Recessive Robinow Syndrome
Sacral dimple, Epicanthus, Camptodactyly of finger, Short neck, Kyphosis, Upslanted palpebral fis... ORPHA:1507
Shprintzen-Goldberg Syndrome
Telecanthus, Camptodactyly of finger, Aplasia/Hypoplasia of the abdominal wall musculature, Abnor... ORPHA:2462
Gabriele-De Vries Syndrome
Distal lower limb amyotrophy, Waddling gait, Telecanthus, Facial hypotonia, Lacrimal duct stenosi... ORPHA:506358
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Autosomal Dominant Robinow Syndrome
Sacral dimple, Epicanthus, Camptodactyly of finger, Curly eyelashes, Short neck, Hemivertebrae, A... ORPHA:3107
Lathosterolosis
Abnormal thoracic spine morphology, Epicanthus, Myoclonus, Downslanted palpebral fissures, Ptosis ORPHA:46059
Codas Syndrome
Hypoplasia of the odontoid process, Coronal cleft vertebrae, Lumbar scoliosis, Scoliosis, Vocal c... OMIM:600373
African Trypanosomiasis
Papilledema, Somatic sensory dysfunction, Abnormal central motor function, Involuntary movements,... ORPHA:3385
Char Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:46627
Fetal Hydantoin Syndrome
Epicanthus, Ptosis ORPHA:1912
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis, Finger joint contracture OMIM:212112
Fetal Akinesia Deformation Sequence 1
Hip contracture, Decreased muscle mass, Telecanthus, Elbow contracture, Camptodactyly of finger, ... OMIM:208150
Chromosome 16P13.3 Duplication Syndrome
Sacral dimple, Epicanthus, Facial hypotonia, Short neck, Synophrys, Cervical C5/C6 vertebrae fusi... OMIM:613458
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long eyelashes, Short palpebral fissure, Highly arched eyebrow, Ptosis OMIM:615866
Phosphoribosylpyrophosphate Synthetase Superactivity
Downslanted palpebral fissures, Epicanthus, Ataxia, Ptosis OMIM:300661
Combined Oxidative Phosphorylation Deficiency 33
Left ventricular hypertrophy, Myopathy, Ptosis OMIM:617713
Noonan Syndrome With Multiple Lentigines
Scapular winging, Aplasia/Hypoplasia of the abdominal wall musculature, Scoliosis, Spina bifida o... ORPHA:500
Pachydermoperiostosis
Ptosis, Cerebral palsy, Scoliosis, Impaired temperature sensation ORPHA:2796
Wiedemann-Steiner Syndrome
Sacral dimple, Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral... ORPHA:319182
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Skeletal muscle atrophy, Scoliosis, Ptosis OMIM:615895
Congenital Myopathy 17
Telecanthus, Myopathy, Distal arthrogryposis, Diaphragmatic eventration, Downslanted palpebral fi... OMIM:618975
Dubowitz Syndrome
Ptosis, Sacral dimple, Epicanthus, Telecanthus, Scoliosis, Blepharophimosis, Spina bifida occulta... ORPHA:235
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Ptosis, Broad-based gait, Telecanthus, Epicanthus, Highly arched eyebrow, Gait ataxia, Camptodact... OMIM:280000
Jacobsen Syndrome
Epicanthus, Ectropion, Spina bifida, Short neck, Abnormal form of the vertebral bodies, Eyelid co... ORPHA:2308
Beare-Stevenson Cutis Gyrata Syndrome
Downslanted palpebral fissures, Optic atrophy, Ptosis OMIM:123790
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Ptosis OMIM:247410
Noonan Syndrome 2
Epicanthus, Short neck, Sparse eyebrow, Arthrogryposis multiplex congenita, Downslanted palpebral... OMIM:605275
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Thick eyebrow, Tethered cord, Flexion contracture, Upslanted palpebral f... OMIM:618332
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis OMIM:110100
Myasthenia Gravis
Myositis, Paresthesia, Ptosis ORPHA:589
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis OMIM:605627
Tyshchenko Syndrome
Ptosis OMIM:615102
Lymphedema-Distichiasis Syndrome
Ptosis, Kyphosis, Conjunctivitis, Distichiasis, Ectropion OMIM:153400
Arima Syndrome
Optic atrophy, Ataxia, Ptosis OMIM:243910
Acromelic Frontonasal Dysostosis
Telecanthus, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:603671
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Hunter-Macdonald Syndrome
Upslanted palpebral fissure, Scoliosis, Camptodactyly, Blepharophimosis, Joint contracture of the... OMIM:611962
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Upslanted palpebral fissure, Ptosis OMIM:619758
Rubinstein-Taybi Syndrome 1
Broad eyebrow, Epicanthus, Incoordination, Highly arched eyebrow, Spina bifida, Unsteady gait, Fl... OMIM:180849
Muenke Syndrome
Ptosis ORPHA:53271
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615829
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Ptosis OMIM:300845
Teebi-Shaltout Syndrome
Ptosis, Telecanthus, Highly arched eyebrow, Camptodactyly, Caudal appendage OMIM:272950
Branchio-Oculo-Facial Syndrome
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis ORPHA:1297
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Ataxia, Rhabdomyolysis, Ragged-red muscle fibers, Neonatal death, Spasticity, Ptosis OMIM:124000
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Hypoesthesia, Ragged-red muscle fibers, Distal sensory impairment, Distal amyotrophy, Ptosis OMIM:603041
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Blepharophimosis, Telecanthus, Long eyelashes, Ptosis OMIM:604314
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Dubowitz Syndrome
Ptosis, Sacral dimple, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse... OMIM:223370
Fanconi Anemia
Epicanthus, Aganglionic megacolon, Spina bifida, Abnormal eyelid morphology, Almond-shaped palpeb... ORPHA:84
Myhre Syndrome
Skeletal muscle hypertrophy, Platyspondyly, Blepharophimosis, Short palpebral fissure, Ptosis ORPHA:2588
22Q11.2 Deletion Syndrome
Telecanthus, Epicanthus, Aganglionic megacolon, Spina bifida, Short neck, Abnormal eyelid morphol... ORPHA:567
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Flexion contracture, Ptosis OMIM:309520
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Sacral dimple, Epicanthus, Tethered cord, Short neck, Optic disc coloboma, Short palpebral fissur... OMIM:617157
Rhyns Syndrome
Ptosis OMIM:602152
Prolidase Deficiency
Ptosis OMIM:170100
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:264200
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Intestinal Botulism
Ptosis ORPHA:178481
17Q24.2 Microdeletion Syndrome
Short neck, Synophrys, Scoliosis, Downslanted palpebral fissures, Thick eyebrow, Ptosis ORPHA:529962
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Torticollis, Epicanthus, Short neck, Antecubital pterygium, Knee flexion contracture, Popliteal p... OMIM:609945
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Epicanthus, Kyphoscoliosis, Platyspondyly, Progressive congenital scoliosis, Downslanted palpebra... OMIM:225400
Charge Syndrome
Ptosis, Epicanthus, Facial palsy, Highly arched eyebrow, Optic atrophy, Hemivertebrae, Eyelid col... ORPHA:138
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Leopard Syndrome 1
Scapular winging, Epicanthus, Kyphoscoliosis, Short neck, Spina bifida occulta, Ptosis OMIM:151100
Rapp-Hodgkin Syndrome
Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis OMIM:129400
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Hyperlordosis, Synophrys, Downslanted palpebral fissures, Ptosis OMIM:301066
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Erdheim-Chester Disease
Xanthelasma, Ataxia, Ptosis ORPHA:35687
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Ptosis OMIM:146255
Neurofibromatosis-Noonan Syndrome
Epicanthus, Short neck, Scoliosis, Lisch nodules, Downslanted palpebral fissures, Ptosis OMIM:601321
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Short neck, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted pal... OMIM:616734
Coffin-Siris Syndrome 4
Macroglossia, Long eyelashes, Scoliosis, Thick eyebrow, Ptosis OMIM:614609
Opitz Gbbb Syndrome
Telecanthus, Congenital diaphragmatic hernia, Vertebral segmentation defect, Downslanted palpebra... ORPHA:2745
Acromelic Frontonasal Dysplasia
Telecanthus, Ptosis ORPHA:1827
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Hemiplegia, Ptosis ORPHA:3217
Frontofacionasal Dysplasia
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... OMIM:229400
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Blepharophimosis, Ptosis ORPHA:2728
Aniridia 1
Bilateral ptosis, Optic nerve hypoplasia, Ptosis OMIM:106210
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Coffin-Siris Syndrome 1
Sacral dimple, Congenital diaphragmatic hernia, Kyphosis, Gait ataxia, Long eyelashes, Scoliosis,... OMIM:135900
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Highly arched eyebrow, Synophrys, Macroglossia, Long eyelashes, Downslanted palpebral fissures, C... ORPHA:444077
Gjc2-Related Late-Onset Primary Lymphedema
Ptosis ORPHA:568051
Joubert Syndrome 5
Oculomotor apraxia, Ataxia, Ptosis OMIM:610188
Neuroocular Syndrome
Sacral dimple, Scapular winging, Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal du... OMIM:619539
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Ptosis, Sacral dimple, Downslanted palpebral fissures, Eyelid coloboma ORPHA:2211
Phace Syndrome
Hemiplegia/hemiparesis, Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis ORPHA:42775
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Congenital diaphragmatic hernia, Upslanted palpebral fissure, Fused cerv... OMIM:157800
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis ORPHA:91416
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Ptosis OMIM:615453
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Epicanthus, Short neck, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:607721
Wagro Syndrome
Downslanted palpebral fissures, Ptosis OMIM:612469
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Pectoral muscle hypoplasia... ORPHA:306542
Noonan Syndrome
Aplasia/Hypoplasia of the abdominal wall musculature, Downslanted palpebral fissures, Scoliosis, ... ORPHA:648
Lathosterolosis
Epicanthus, Lumbosacral meningocele, Downslanted palpebral fissures, Butterfly vertebrae, Ptosis OMIM:607330
Wolf-Hirschhorn Syndrome
Vertebral fusion, Decreased muscle mass, Sacral dimple, Epicanthus, Tethered cord, Highly arched ... OMIM:194190
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Short neck, Downslanted palpebral fissures, Ptosis OMIM:613563
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Kyphoscoliosis, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fis... OMIM:618820
Hypermobile Ehlers-Danlos Syndrome
Epicanthus, Decreased nerve conduction velocity, Aplasia/Hypoplasia of the abdominal wall muscula... ORPHA:285
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Ptosis, Camptodactyly ORPHA:228426
Costello Syndrome
Epicanthus, Rhabdomyosarcoma, Short neck, Achilles tendon contracture, Macroglossia, Vestibular s... OMIM:218040
Six2-Related Frontonasal Dysplasia
Epicanthus inversus, Ptosis ORPHA:488437
Primrose Syndrome
Hip contracture, Skeletal muscle atrophy, Epicanthus, Ataxia, Kyphosis, Synophrys, Flexion contra... OMIM:259050
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Kyphoscoliosis, Short neck, Optic atrophy, Upslanted palpebral fissure, Macroglossia,... OMIM:309580
Good Syndrome
Fatigable weakness, Ptosis ORPHA:169105
Thrombocytopenia-Absent Radius Syndrome
Shoulder muscle hypoplasia, Spina bifida, Fused cervical vertebrae, Syringomyelia, Ptosis OMIM:274000
Monosomy 22Q13.3
Epicanthus, Sacral dimple, Palpebral edema, Impaired pain sensation, Long eyelashes, Thick eyebro... ORPHA:48652
Lacrimoauriculodentodigital Syndrome
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... ORPHA:2363
Malignant Atrophic Papulosis
Pain insensitivity, Ptosis ORPHA:679
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Hydromyelia, Scoliosis, Neonatal death, ... OMIM:308205
Zygomycosis
Ptosis, Chemosis, Abnormal cranial nerve morphology ORPHA:73263
Microphthalmia, Syndromic 2
Flexion contracture, Laterally curved eyebrow, Scoliosis, Spastic paraparesis, Blepharophimosis, ... OMIM:300166
Non-Functioning Pituitary Adenoma
Ptosis ORPHA:91349
Auriculocondylar Syndrome
Ptosis ORPHA:137888
Coffin-Siris Syndrome
Thick eyebrow, Prominent eyelashes, Scoliosis, Ptosis ORPHA:1465
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Optic atrophy, Ptosis OMIM:614231
Cornelia De Lange Syndrome
Curly eyelashes, Congenital diaphragmatic hernia, Short neck, Highly arched eyebrow, Synophrys, H... ORPHA:199
Degcags Syndrome
Abnormal eyebrow morphology, Sacral dimple, Abnormal eyelash morphology, Synophrys, Vocal cord pa... OMIM:619488
Neurofaciodigitorenal Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:2673
Kabuki Syndrome 1
Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Scoliosis, Long pal... OMIM:147920
Smith-Lemli-Opitz Syndrome
Epicanthus, Sacral dimple, Aganglionic megacolon, Hypertonia, Ptosis OMIM:270400
Primary Hepatic Neuroendocrine Carcinoma
Ptosis ORPHA:100085
Ayme-Gripp Syndrome
Upslanted palpebral fissure, Camptodactyly, Downslanted palpebral fissures, Broad eyebrow, Ptosis OMIM:601088
Faciocardiomelic Syndrome
Telecanthus, Cuboid-shaped vertebral bodies, Short eyelashes, Ptosis OMIM:612731
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... OMIM:154500
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Telecanthus, Abnormal vertebral morphology, Ptosis OMIM:600383
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Joint contracture of the 5th finger, Ptosis OMIM:619934
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Ptosis OMIM:259100
Pituitary Apoplexy
Ptosis ORPHA:95613
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Ptosis, Highly arched eyebrow, Short neck ORPHA:2282
Prolactinoma
Ptosis ORPHA:2965
Branchiooculofacial Syndrome
Telecanthus, Facial palsy, Hyperlordosis, Short neck, Kyphosis, Elbow flexion contracture, Nasola... OMIM:113620
Tsh-Secreting Pituitary Adenoma
Tremor, Periodic hypokalemic paresis, Ptosis ORPHA:91347
Trichorhinophalangeal Syndrome, Type Ii
Ptosis, Scapular winging, Thoracolumbar scoliosis, Hemiparesis, Lumbar scoliosis, Scoliosis, Thic... OMIM:150230
Okamoto Syndrome
Tethered cord, Syringomyelia, Scoliosis, Long palpebral fissure, Ptosis ORPHA:2729
Holoprosencephaly 4
Ptosis OMIM:142946
Pearson Syndrome
Ataxia, Ptosis ORPHA:699
Noonan Syndrome 3
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:609942
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Diamond-Blackfan Anemia
Ptosis, Epicanthus, Abnormality of the thenar eminence, Short neck ORPHA:124
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Abnormality of the cervical spine, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstructi... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Abnormality of the cervical spine, Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstructi... ORPHA:353277
Chime Syndrome
Upslanted palpebral fissure, Epicanthus, Ptosis ORPHA:3474
Pallister-Killian Syndrome
Sacral dimple, Telecanthus, Sparse eyelashes, Epicanthus, Congenital diaphragmatic hernia, Short ... OMIM:601803
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Ptosis OMIM:167100
Meckel Syndrome, Type 1
Ptosis, Epicanthus inversus, Camptodactyly of finger, Short neck OMIM:249000
Proteus Syndrome
Decreased muscle mass, Retinal hamartoma, Kyphosis, Abnormal form of the vertebral bodies, Scolio... ORPHA:744
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Broad-based gait, Telecanthus, Aganglionic megacolon, Epicanthus, Highly arched eyebrow, Impaired... ORPHA:261552
Singleton-Merten Syndrome 1
Waddling gait, Scoliosis, Muscle fiber atrophy, Tendon rupture, Ptosis OMIM:182250
Monosomy 13Q14
Ptosis, Epicanthus, Short neck ORPHA:1587
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Difficulty walking, Ptosis OMIM:618748
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Broad-based gait, Telecanthus, Aganglionic megacolon, Impaired pain sensation, Inability to walk,... ORPHA:261537
Noonan Syndrome 1
Epicanthus, Kyphoscoliosis, Short neck, Downslanted palpebral fissures, Ptosis OMIM:163950
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Short neck, Kyphosis, Neck pterygia, Scoliosis, Ptosis ORPHA:99413
Mosaic Monosomy X
Epicanthus, Short neck, Kyphosis, Neck pterygia, Scoliosis, Ptosis ORPHA:99228
Monosomy X
Epicanthus, Short neck, Kyphosis, Neck pterygia, Scoliosis, Ptosis ORPHA:99226
Turner Syndrome
Epicanthus, Short neck, Kyphosis, Neck pterygia, Scoliosis, Ptosis ORPHA:881
Microphthalmia, Syndromic 1
Lumbar hyperlordosis, Aganglionic megacolon, Kyphoscoliosis, Optic disc coloboma, Spastic diplegi... OMIM:309800
Autosomal Dominant Cutis Laxa
Ptosis, Scoliosis, Abnormal curvature of the vertebral column ORPHA:90348
Specc1L-Related Hypertelorism Syndrome
Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis ORPHA:1519
Peters-Plus Syndrome
Diastasis recti, Short neck, Hemivertebrae, Upslanted palpebral fissure, Narrow palpebral fissure... OMIM:261540
Mowat-Wilson Syndrome
Aganglionic megacolon, Generalized muscle hypertrophy, Downslanted palpebral fissures, Broad eyeb... OMIM:235730
Charge Syndrome
Facial palsy, Hemivertebrae, Scoliosis, Downslanted palpebral fissures, Ptosis OMIM:214800
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ptosis OMIM:620303
Viss Syndrome
Ptosis, Ectropion, Kyphosis, Macroglossia, Scoliosis, Long palpebral fissure, Contracture of the ... OMIM:619472
Kawasaki Disease
Conjunctivitis, Ptosis ORPHA:2331
Craniofacial Microsomia 1
Ptosis, Block vertebrae, Hypoplasia of facial musculature, Blepharophimosis, Hemivertebrae, Upper... OMIM:164210
Pallister-Hall Syndrome
Downslanted palpebral fissures, Distal arthrogryposis, Hemivertebrae, Ptosis ORPHA:672
Saethre-Chotzen Syndrome
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits OMIM:101400
Vascular Ehlers-Danlos Syndrome
Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Aplasia/Hypoplas... 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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