Not currently registered for phenotyping at IMPC

Phenotyping is currently not planned for a knockout strain of this gene.

Gene Summary

Name:
artemin
Synonyms:
neublastin

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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 Artn 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 Artn by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Ptosis, Optic atrophy, Upslanted palpebral fissure OMIM:620086
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal cranial nerve morphology OMIM:258470
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Progressive ptosis, Facial palsy OMIM:164300
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis, Facial palsy OMIM:609283
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Thick eyebrow, Abnormal cranial nerve morphology, Ptosis, Blepharophimosis... ORPHA:2057
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis OMIM:300928
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures DECIPHER:70
Waardenburg Syndrome Type 2
Aganglionic megacolon, Telecanthus, Ptosis ORPHA:895
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon, Total colonic aganglionosis, Long-segment aganglionic megacolon OMIM:613711
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Ptosis, Abnormal autonomic nervous system physiology OMIM:610743
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Ptosis, Abnormal autonomic nervous system physiology OMIM:243180
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis OMIM:162100
Neuropathy, Hereditary Motor And Sensory, Russe Type
Ptosis, Decreased motor nerve conduction velocity OMIM:605285
Myasthenic Syndrome, Congenital, 12
Ptosis, Facial palsy OMIM:610542
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy OMIM:616322
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis, Abnormal autonomic nervous system physiology OMIM:618049
Sclerosteosis
Optic atrophy, Ptosis, Facial palsy ORPHA:3152
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Frontalis muscle weakness, Facial palsy OMIM:300580
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616325
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow OMIM:619311
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy ORPHA:2743
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Bilateral ptosis, Downslanted palpebral fissures OMIM:619701
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Ptosis, Decreased motor nerve conduction velocit... OMIM:607684
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormal enteric ganglion morphology OMIM:142623
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Hypertrichosis Cubiti
Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... ORPHA:2220
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures ORPHA:502430
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Bilateral ptosis ORPHA:329314
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Ptosis, Abnormal autonomic nervous system physiology, Optic di... ORPHA:97229
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Spinal Muscular Atrophy, X-Linked 2
Ptosis, Decreased compound muscle action potential amplitude, Degeneration of anterior horn cells... OMIM:301830
Kondoh Syndrome
Ptosis, Thick eyebrow OMIM:606242
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Congenital fibrosis of extraocular muscles, Ptosis, Levator palpebrae superioris atrophy, Facial ... OMIM:600638
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Ptosis, Blepharophimosis, Frontalis muscle weakness, Synophrys OMIM:210745
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Downslanted palpebral fissures, Facial diplegia, Ptosis, ... OMIM:611890
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Ptosis OMIM:619862
Ring Chromosome 1 Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:1437
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Ptosis, Abnormal auditory evoked potentials OMIM:125250
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Sparse eyebrow, Ptosis ORPHA:66629
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Ptosis OMIM:618238
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Ptosis OMIM:616681
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ptosis, Facial palsy OMIM:608930
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Long eyelashes, Ptosis, Opti... OMIM:617523
Myoclonus, Intractable, Neonatal
Optic disc pallor, Ptosis OMIM:617235
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Ptosis ORPHA:171706
Fibrosis Of Extraocular Muscles, Congenital, 1
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Superior rectus... OMIM:135700
Char Syndrome
Ptosis, Highly arched eyebrow, Thick eyebrow OMIM:169100
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Telecanthus, Epicanthus, Ptosis, Blepharophimosis OMIM:277720
Myasthenic Syndrome, Congenital, 16
Ptosis, Bilateral ptosis OMIM:614198
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Ptosis, Facial palsy OMIM:616313
Spinocerebellar Ataxia 50
Froment sign, Ptosis OMIM:620158
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Waardenburg Syndrome Type 1
Telecanthus, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyebrow, White eyelashes, Synophrys ORPHA:894
Coffin-Siris Syndrome 8
Ptosis, Long eyelashes, Thick eyebrow OMIM:618362
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:608931
Iatrogenic Botulism
Ptosis, Orthostatic hypotension ORPHA:254509
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Up... OMIM:615834
Myopathy, Centronuclear, 1
Ptosis, Facial palsy OMIM:160150
Cluster Headache, Familial
Ptosis OMIM:119915
Mungan Syndrome
Abnormality of the autonomic nervous system, Bilateral ptosis OMIM:611376
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616326
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Long eyelashes, Ptosis OMIM:619076
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616323
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Ptosis, Blepharophimosis OMIM:606772
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Telecanthus, Thick eyebrow, Epicanthus, Ptosis OMIM:617268
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Ptosis ORPHA:401768
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Arthrogryposis, Distal, Type 2B3
Ptosis, Downslanted palpebral fissures OMIM:618436
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Ascher Syndrome
Upper eyelid edema, Ptosis, Abnormal eyelid morphology, Blepharophimosis ORPHA:1253
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Ptosis, Optic nerve hypoplasia, Downslanted palpebral fissures OMIM:618736
Deafness, X-Linked 7
Ptosis, Telecanthus, Thick eyebrow OMIM:301018
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Ptosis ORPHA:254881
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Ptosis, Unilateral narrow palpebral fissure, Downslanted palpebral fissures ORPHA:3038
Facial Paresis, Hereditary Congenital, 3
Epicanthus, Unilateral ptosis, Lagophthalmos, Facial palsy OMIM:614744
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Ptosis, Syn... OMIM:300590
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Ptosis OMIM:619422
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Upslanted palpebral fissure, Almond-shaped palpebral fissure, Epicanthus, Ptosis, Synophrys ORPHA:589905
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Ptosis, Downslanted palpebral fissures ORPHA:1390
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Blepharophimosis, Narrow palpebral fissure OMIM:301900
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
11Q22.2Q22.3 Microdeletion Syndrome
Ptosis, Epicanthus, Thick eyebrow ORPHA:444002
Proximal Xq28 Duplication Syndrome
Epicanthus, Ptosis, Blepharophimosis ORPHA:1762
Warburg Micro Syndrome 1
Optic atrophy, Ptosis OMIM:600118
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis OMIM:619527
Autosomal Dominant Spastic Ataxia Type 1
Ptosis, Abnormal eyelid morphology ORPHA:251282
Joubert Syndrome 26
Ptosis OMIM:616784
Frontoocular Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis OMIM:605321
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Sparse eyebrow, Ptosis, Downslanted palpebral fissures OMIM:619989
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Temporal optic disc pallor, Bilateral ptosis ORPHA:1215
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis OMIM:618637
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Li-Campeau Syndrome
Ptosis, Telecanthus, Thick eyebrow, Downslanted palpebral fissures OMIM:619189
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ptosis ORPHA:1933
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ptosis ORPHA:52503
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ptosis OMIM:252011
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Congenital Myopathy 4A, Autosomal Dominant
Ptosis, Facial palsy OMIM:255310
Chromosome Xq13 Duplication Syndrome
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Upslanted palpebral fissu... OMIM:301069
Proteus Syndrome
Ptosis, Limbal dermoid, Downslanted palpebral fissures OMIM:176920
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis ORPHA:1825
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Ptosis, Facial palsy ORPHA:254886
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Telecanthus, Thick eyebrow, Absent lacrimal punctum, Absent eyelashes, Ptosis ORPHA:228396
Cardiofaciocutaneous Syndrome 4
Telecanthus, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow, Optic nerve hypoplasia OMIM:615280
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Ptosis, Facial paralysis, Facial diplegia OMIM:613559
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis ORPHA:44
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis OMIM:616324
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Stickler Syndrome, Type Vi
Ptosis, Downslanted palpebral fissures OMIM:620022
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Legius Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:611431
Fibrosis Of Extraocular Muscles, Congenital, 2
Congenital fibrosis of extraocular muscles, Bilateral ptosis OMIM:602078
Waardenburg Syndrome
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Ptosis, Synophrys ORPHA:3440
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ptosis OMIM:618226
Myasthenic Syndrome, Congenital, 10
Ptosis OMIM:254300
Frias Syndrome
Ptosis, Downslanted palpebral fissures OMIM:609640
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Oculopharyngeal Muscular Dystrophy 2
Ptosis OMIM:620460
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... OMIM:218000
Leigh Syndrome, Nuclear
Optic atrophy, Ptosis OMIM:256000
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Ptosis, Facial diplegia ORPHA:521411
Trisomy 5P
Ptosis ORPHA:1742
Myopathy, Centronuclear, 2
Ptosis, Facial palsy OMIM:255200
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Ptosis ORPHA:363429
Terminal Osseous Dysplasia
Epicanthus, Telecanthus, Ptosis, Upslanted palpebral fissure OMIM:300244
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Ptosis, Blepharophimosis ORPHA:397973
Intellectual Developmental Disorder With Autism And Macrocephaly
Ptosis, Downslanted palpebral fissures OMIM:615032
Mitochondrial Dna Depletion Syndrome 11
Ptosis, Facial palsy OMIM:615084
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Intellectual Developmental Disorder, Autosomal Dominant 23
Synophrys, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:615761
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis ORPHA:93262
Baraitser-Winter Syndrome 2
Long palpebral fissure, Highly arched eyebrow, Telecanthus, Ptosis OMIM:614583
Non-Distal Deletion 10Q
Epicanthus, Ptosis, Upslanted palpebral fissure, Synophrys ORPHA:1581
Multiple System Atrophy 1, Susceptibility To
Ptosis, Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:146500
Mosaic Trisomy 14
Ptosis, Blepharophimosis ORPHA:1703
Crouzon Syndrome
Conjunctivitis, Ptosis, Optic atrophy ORPHA:207
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Upslanted palpebral fissure, Synophrys OMIM:616083
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Ptosis, Optic atrophy ORPHA:1185
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:457365
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Hartsfield Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:2117
Noonan Syndrome 11
Ptosis, Downslanted palpebral fissures OMIM:618499
Craniosynostosis 3
Ptosis OMIM:615314
Mcdonough Syndrome
Short palpebral fissure, Ptosis, Synophrys ORPHA:2471
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Long eyelashes, Telecanthus, Ptosis, Synophrys OMIM:300882
Congenital Myopathy 1B, Autosomal Recessive
Ptosis, Facial palsy OMIM:255320
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Ptosis OMIM:617664
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Myasthenia Gravis
Ptosis, Facial palsy OMIM:254200
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Sparse eyebrow, Long eyelashes, Thick eyebrow, Sparse eyelashes, Epicanthu... OMIM:619293
Marcus-Gunn Syndrome
Abnormal fifth cranial nerve morphology, Unilateral ptosis ORPHA:91412
Hypotonia-Cystinuria Syndrome
Long eyelashes, Ptosis, Facial palsy OMIM:606407
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Ptosis ORPHA:275872
Neurofibromatosis-Noonan Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:638
Childhood-Onset Nemaline Myopathy
Ptosis, Facial diplegia ORPHA:171439
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Ptosis, Thick eyebrow, Upslanted palpebral fissure OMIM:620535
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Ptosis, Facial diplegia, Decreased motor nerve conduction velocity OMIM:618186
Congenital Myasthenic Syndromes With Glycosylation Defect
Ptosis, Facial palsy ORPHA:353327
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:615433
Machado-Joseph Disease
Ptosis, Abnormal autonomic nervous system physiology OMIM:109150
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Upper eyelid coloboma, Ptosis, Blepharophimosis, Aplasia/Hyp... ORPHA:1791
Distal Duplication 15Q
Ptosis, Blepharophimosis, Downslanted palpebral fissures ORPHA:1707
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Aganglionic me... OMIM:609460
Orthostatic Hypotension 1
Ptosis, Orthostatic hypotension OMIM:223360
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Epicanthus, Broad eyebrow, Ptosis, Blepharophimosis ORPHA:494344
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Highly arched eyebrow, Ptosis ORPHA:2318
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Ptosis, Downslanted palpebral fissures ORPHA:442835
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Ptosis, Blepharophimosis ORPHA:3236
Adult Intestinal Botulism
Ptosis ORPHA:178487
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis ORPHA:1875
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, Synophrys OMIM:613792
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Long eyelashes, Ptosis, Synophrys OMIM:615009
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Ptosis, Amyotrophic lateral sclerosis OMIM:615911
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures OMIM:615476
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Downslanted palpebral fissures, Aganglionic megacolon, Epicanthus, Ptosis, Narrow palpebral fissure OMIM:613603
Coffin-Siris Syndrome 5
Ptosis, Long eyelashes, Thick eyebrow OMIM:616938
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Highly arched eyebrow, Ptosis ORPHA:220497
Hengel-Maroofian-Schols Syndrome
Ptosis, Epicanthus, Thick eyebrow, Synophrys OMIM:619641
Congenital Myopathy With Myasthenic-Like Onset
Ptosis ORPHA:424107
Joubert Syndrome 8
Optic disc pallor, Ptosis OMIM:612291
Congenital Myopathy 6 With Ophthalmoplegia
Ptosis OMIM:605637
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Coenzyme Q10 Deficiency, Primary, 4
Ptosis OMIM:612016
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Joubert Syndrome
Aganglionic megacolon, Highly arched eyebrow, Ptosis ORPHA:475
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
Dermoodontodysplasia
Ptosis, Abnormal eyelid morphology ORPHA:1660
Joubert Syndrome 35
Highly arched eyebrow, Telecanthus, Ptosis, Synophrys OMIM:618161
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased sensory nerve conduction velocity, Ptosis, Decreased motor nerve conduction velocity, A... ORPHA:298
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis OMIM:601462
Amyloidosis, Hereditary Systemic 1
Orthostatic hypotension due to autonomic dysfunction, Ptosis, Abnormal autonomic nervous system p... OMIM:105210
Rhyns Syndrome
Ptosis ORPHA:140976
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Postsynaptic Congenital Myasthenic Syndromes
Ptosis, Facial palsy ORPHA:98913
Teebi Hypertelorism Syndrome 2
Ptosis, Upper eyelid coloboma, Thick eyebrow OMIM:619736
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Tetrasomy 12P
Sparse eyebrow, Ptosis, Telecanthus, Upslanted palpebral fissure ORPHA:884
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Chromosome 2P16.1-P15 Deletion Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Telecanthus, Epicanthus, Ptosis, Blephar... OMIM:612513
Cardiofaciocutaneous Syndrome 2
Ptosis, Absent eyebrow OMIM:615278
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Ptosis, Facial palsy, Downslanted palpebral fissures ORPHA:3068
Myasthenic Syndrome, Congenital, 20, Presynaptic
Ptosis, Facial palsy OMIM:617143
Freeman-Sheldon Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:2053
Congenital Disorder Of Glycosylation, Type Iio
Ptosis, Downslanted palpebral fissures OMIM:616828
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Myopathy With Extrapyramidal Signs
Epicanthus, Ptosis, Optic atrophy OMIM:615673
Intellectual Developmental Disorder With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Ptosis OMIM:609037
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, Synophrys OMIM:618792
Fetal Trimethadione Syndrome
Epicanthus, Ptosis, Synophrys ORPHA:1913
Joubert Syndrome 14
Optic atrophy, Highly arched eyebrow, Downslanted palpebral fissures, Epicanthus, Ptosis OMIM:614424
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Highly arched eyebrow, Ptosis ORPHA:220493
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Arthrogryposis, Distal, Type 5
Epicanthus, Ptosis, Blepharophimosis OMIM:108145
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis OMIM:618225
Oculopharyngodistal Myopathy 3
Ptosis OMIM:619473
Isolated Atp Synthase Deficiency
Optic atrophy, Ptosis ORPHA:254913
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis OMIM:613561
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Ptosis, Facial palsy, Bilateral ptosis OMIM:258450
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Foxp1 Syndrome
Ptosis, Blepharophimosis, Downslanted palpebral fissures ORPHA:391372
Congenital Myopathy 19
Ptosis OMIM:618578
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ptosis OMIM:615838
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Ptosis ORPHA:137898
King-Denborough Syndrome
Ptosis, Bilateral ptosis, Downslanted palpebral fissures OMIM:619542
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Epicanthus inversus, Ptosis, Upslanted palpebral fissure ORPHA:2988
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:1778
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Epicanthus, Ptosis, Lacrimal duct stenosis ORPHA:457193
Birk-Landau-Perez Syndrome
Optic atrophy, Long eyelashes, Ptosis, Upslanted palpebral fissure OMIM:617595
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Ptosis, Temporal optic disc pallor ORPHA:98673
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis OMIM:618155
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:618659
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Ptosis OMIM:608423
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Optic disc coloboma, Downslanted palpebral fissures, Telecanthus, Long pal... ORPHA:2995
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Ptosis OMIM:616239
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ptosis OMIM:614261
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:616801
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Sparse eyebrow, Downslanted palpebral fissures, Long eyelashes, Telecanthus, Epica... ORPHA:261349
Auriculocondylar Syndrome 2A
Ptosis OMIM:614669
Wieacker-Wolff Syndrome
Ptosis, Upslanted palpebral fissure, Facial palsy OMIM:314580
Coffin-Siris Syndrome 3
Ptosis, Long eyelashes, Thick eyebrow OMIM:614608
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ptosis, Bilateral ptosis OMIM:616479
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Ptosis, Blepharophimosis, Downslanted palpebral fissures OMIM:617333
Warburg Micro Syndrome 4
Optic atrophy, Ptosis, Decreased motor nerve conduction velocity OMIM:615663
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis OMIM:619566
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ptosis OMIM:615156
Combined Oxidative Phosphorylation Deficiency 47
Ptosis OMIM:618958
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Ptosis, Optic atrophy OMIM:220500
Bachmann-Bupp Syndrome
Downslanted palpebral fissures, Sparse eyelashes, Ptosis, Absent eyebrow, Blepharophimosis OMIM:619075
Inclusion Body Myopathy And Brain White Matter Abnormalities
Ptosis OMIM:619733
Takenouchi-Kosaki Syndrome
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Optic atrophy,... OMIM:616737
Leukodystrophy, Hypomyelinating, 20
Ptosis OMIM:619071
Noonan Syndrome 9
Sparse eyebrow, Ptosis, Downslanted palpebral fissures OMIM:616559
Isolated Congenital Alacrima
Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivitis ORPHA:91416
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis OMIM:617468
Joubert Syndrome 3
Epicanthus, Ptosis, Highly arched eyebrow OMIM:608629
4Q21 Microdeletion Syndrome
Long eyelashes, Ptosis, Synophrys ORPHA:238750
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Highly arched eyebrow, Short palpebral fissure, Telecanthus, Thick eyebrow, Upslanted palpebral f... OMIM:617360
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ptosis OMIM:300352
Myasthenic Syndrome, Congenital, 14
Ptosis OMIM:616228
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Combined Oxidative Phosphorylation Defect Type 7
Optic atrophy, Ptosis, Facial diplegia ORPHA:254930
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, Epica... OMIM:620098
Wagr Syndrome
Ptosis ORPHA:893
Ohdo Syndrome
Epicanthus, Sparse eyebrow, Ptosis, Blepharophimosis OMIM:249620
Coffin-Siris Syndrome 2
Ptosis, Long eyelashes, Thick eyebrow OMIM:614607
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Ptosis OMIM:620469
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Epicanthus, Ptosis OMIM:615668
Distal Duplication 6P
Abnormal eyelash morphology, Ptosis, Blepharophimosis ORPHA:1745
Wolfram Syndrome 1
Optic atrophy, Ptosis OMIM:222300
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Ptosis, Horizontal eyebrow, Upslanted palpebral fissure ORPHA:369891
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis ORPHA:2617
Brown-Vialetto-Van Laere Syndrome 1
Ptosis, Facial palsy, Cranial nerve motor loss OMIM:211530
Autosomal Recessive Dopa-Responsive Dystonia
Ptosis ORPHA:101150
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Long eyelashes, Ptosis, Long eyebrows, S-shaped palpebral fissures OMIM:201180
Coach Syndrome 3
Ptosis OMIM:619113
Orofaciodigital Syndrome V
Aganglionic megacolon, Unilateral ptosis, Optic disc coloboma, Downslanted palpebral fissures OMIM:174300
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis OMIM:618731
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis OMIM:618198
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Sparse eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:73246
Frontonasal Dysplasia 1
Epicanthus, Ptosis OMIM:136760
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Myasthenic Syndrome, Congenital, 19
Ptosis, Facial palsy OMIM:616720
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Downslanted palpebral fissures, Thick eyebrow, Upslanted palpebral fissure, Epicanthus, Ptosis, S... OMIM:617061
Agel Amyloidosis
Bilateral ptosis, Blepharochalasis, Orthostatic hypotension due to autonomic dysfunction, Keratoc... ORPHA:85448
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Long eyelashes, Ptosis OMIM:617301
Noonan Syndrome 5
Epicanthus, Sparse eyebrow, Ptosis, Downslanted palpebral fissures OMIM:611553
Nager Syndrome
Downslanted palpebral fissures, Lower eyelid coloboma, Ptosis, Aplasia/Hypoplasia of the eyebrow,... ORPHA:245
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma, Downslanted palpebral fissures ORPHA:1784
Aarskog-Scott Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures ORPHA:915
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Ptosis, Facial diplegia OMIM:612073
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Oculopharyngodistal Myopathy 4
Ptosis OMIM:619790
Wieacker-Wolff Syndrome, Female-Restricted
Ptosis, Facial palsy OMIM:301041
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Supernumerary lacrimal punctum, Lacrimal gland hypoplasia, Ectopic lacrima... ORPHA:572333
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Telecanthus, Epicanthus, Ptosis, Blepharophimosis OMIM:193700
Muenke Syndrome
Ptosis, Downslanted palpebral fissures OMIM:602849
Noonan Syndrome 13
Highly arched eyebrow, Downslanted palpebral fissures, Almond-shaped palpebral fissure, Epicanthu... OMIM:619087
Baraitser-Winter Syndrome 1
Long palpebral fissure, Epicanthus, Ptosis, Highly arched eyebrow OMIM:243310
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures OMIM:618619
Typical Nemaline Myopathy
Ptosis, Facial diplegia, Facial palsy ORPHA:171436
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Ptosis ORPHA:168549
Richieri-Costa/Guion-Almeida Syndrome
Ptosis, Eyelid coloboma, Downslanted palpebral fissures OMIM:268850
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:2496
Spinocerebellar Ataxia 47
Ptosis OMIM:617931
Noonan Syndrome 8
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:615355
Congenital Myopathy 5 With Cardiomyopathy
Ptosis OMIM:611705
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis ORPHA:2511
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Optic atrophy, Bilateral ptosis, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, L... ORPHA:324540
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Carey-Fineman-Ziter Syndrome
Epicanthus, Ptosis, Facial palsy, Downslanted palpebral fissures ORPHA:1358
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Ptosis, Facial palsy OMIM:619424
Buratti-Harel Syndrome
Epicanthus, Ptosis, Sparse medial eyebrow, Downslanted palpebral fissures OMIM:619314
X-Linked Mandibulofacial Dysostosis
Epicanthus, Aplasia/Hypoplasia of the eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:1131
Meckel Syndrome, Type 10
Epicanthus, Ptosis, Narrow palpebral fissure OMIM:614175
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Ptosis, Highly arched eyebrow ORPHA:2319
Congenital Multicore Myopathy With External Ophthalmoplegia
Ptosis, Facial diplegia, Facial palsy ORPHA:98905
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis ORPHA:70594
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Ptosis, Broad lateral eyebrow OMIM:608624
Joubert Syndrome 30
Ptosis OMIM:617622
Shashi-Pena Syndrome
Highly arched eyebrow, Long eyelashes, Epicanthus, Ptosis, Synophrys OMIM:617190
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Intellectual Developmental Disorder, Autosomal Dominant 56
Ptosis, Upslanted palpebral fissure OMIM:617854
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Ptosis, Facial palsy OMIM:610131
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow OMIM:619955
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Ptosis, Orthostatic hypotension OMIM:615510
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Telecanthus, Ptosis, Blepharophimosis, Narrow palpebral fissure, Epicanthu... OMIM:110100
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis OMIM:615351
Autosomal Recessive Multiple Pterygium Syndrome
Axillary pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pterygium, Telecanthus, ... ORPHA:2990
Developmental And Epileptic Encephalopathy 110
Ptosis OMIM:620149
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyebrow, Sparse eyelashes, Long palpebral fissure, Ptosis, Blepha... OMIM:613026
Noonan Syndrome 4
Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Epicanthus, Ptosis OMIM:610733
Spastic Ataxia 5, Autosomal Recessive
Ptosis OMIM:614487
Rubinstein-Taybi Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Epicanthus, Ptosis, Nasolacri... ORPHA:783
Proboscis Lateralis
Abnormal morphology of bony orbit of skull, Nasolacrimal duct obstruction, Optic disc coloboma, U... ORPHA:141099
Schwartz-Jampel Syndrome, Type 1
Ptosis, Long eyelashes in irregular rows, Blepharophimosis, Narrow palpebral fissure OMIM:255800
Houge-Janssens Syndrome 1
Ptosis, Downslanted palpebral fissures OMIM:616355
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis OMIM:616549
Fountain Syndrome
Ptosis, Epicanthus, Thick eyebrow, Synophrys ORPHA:3219
Pontine Tegmental Cap Dysplasia
Ptosis, Facial palsy OMIM:614688
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Ptosis, Narrow palpebral fissure, Downslanted palpebral fissures OMIM:619493
Coach Syndrome 1
Optic disc pallor, Ptosis OMIM:216360
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Borjeson-Forssman-Lehmann Syndrome
Ptosis, Thick eyebrow, Blepharophimosis ORPHA:127
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis OMIM:618170
Kaufman Oculocerebrofacial Syndrome
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis, O... OMIM:244450
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ptosis ORPHA:352447
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Bilateral ptosis ORPHA:230
Monosomy 18P
Epicanthus, Ptosis ORPHA:1598
22Q11.2 Duplication Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures ORPHA:1727
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ptosis ORPHA:313772
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Ptosis OMIM:251900
Short Stature And Facioauriculothoracic Malformations
Ptosis OMIM:609654
Basal Ganglia Disease, Biotin-Thiamine Responsive
Ptosis, Facial palsy OMIM:607483
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Ptosis OMIM:247410
Cardiofaciocutaneous Syndrome
Optic atrophy, Downslanted palpebral fissures, Sparse or absent eyelashes, Long palpebral fissure... ORPHA:1340
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Optic atrophy, Ptosis, Downslanted palpebral fissures ORPHA:1555
Joubert Syndrome 7
Ptosis OMIM:611560
Congenital Myopathy 22A, Classic
Synophrys, Ptosis, Bilateral ptosis, Downslanted palpebral fissures OMIM:620351
Kury-Isidor Syndrome
Ptosis, Downslanted palpebral fissures OMIM:619762
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Ptosis, Upslanted palpebral fissure OMIM:300260
Charcot-Marie-Tooth Disease Type 4B2
Optic atrophy, Decreased distal sensory nerve action potential, Ptosis ORPHA:99956
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Ptosis ORPHA:436271
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autonomic nervous... ORPHA:79138
Codas Syndrome
Epicanthus, Ptosis ORPHA:1458
Joubert Syndrome 1
Highly arched eyebrow, Optic disc coloboma, Epicanthus, Ptosis, Optic disc pallor OMIM:213300
Jacobsen Syndrome
Optic atrophy, Telecanthus, Eyelid coloboma, Epicanthus, Ptosis, Nasolacrimal duct obstruction, A... OMIM:147791
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Optic disc coloboma, Aganglionic megacolon, Epicanthus, Ptosis ORPHA:959
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis ORPHA:35708
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Ptosis ORPHA:1915
Combined Oxidative Phosphorylation Deficiency 58
Epicanthus, Ptosis, Optic atrophy OMIM:620451
Ververi-Brady Syndrome
Ptosis, Upslanted palpebral fissure OMIM:617982
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis OMIM:619046
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Telecanthus, Ptosis, Sparse lateral eyebrow, Downslanted palpebral fissures ORPHA:314655
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Long palpebral fissure, Ptosis, Shallow orbits, Abnormal autonomic nervous system physiology ORPHA:453499
Miller Fisher Syndrome
Ptosis, Facial palsy ORPHA:98919
Acrofrontofacionasal Dysostosis 2
Ptosis, Downslanted palpebral fissures OMIM:239710
3Mc Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Ptosis, Blepharophimosis, Epi... ORPHA:293843
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Myopathy, Myofibrillar, 8
Ptosis OMIM:617258
Chromosome 17P13.1 Deletion Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Epicanthus, Ptosis, Narrow pa... OMIM:613776
Congenital Fibrosis Of Extraocular Muscles
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Ptosis, Optic n... ORPHA:45358
Dystonia 34, Myoclonic
Ptosis OMIM:619724
Cardiofaciocutaneous Syndrome 1
Palpebral thickening, Downslanted palpebral fissures, Optic nerve dysplasia, Absent eyelashes, Ep... OMIM:115150
Craniosynostosis 6
Ptosis OMIM:616602
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Ptosis ORPHA:73272
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Optic disc coloboma, Downslanted palpebral fissures, Epicanthus, Ptosis,... ORPHA:251014
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Ptosis ORPHA:2522
Xia-Gibbs Syndrome
Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:615829
Char Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:46627
Synaptic Congenital Myasthenic Syndromes
Ptosis, Facial palsy, Bilateral ptosis ORPHA:98915
Carey-Fineman-Ziter Syndrome 1
Downslanted palpebral fissures, Epicanthus, Ptosis, Facial palsy, Lagophthalmos OMIM:254940
20Q11.2 Microduplication Syndrome
Downslanted palpebral fissures, Epicanthus, Ptosis, Abnormal shape of the palpebral fissure, Palp... ORPHA:363659
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Ptosis OMIM:220110
Pde4D Haploinsufficiency Syndrome
Long palpebral fissure, Ptosis, Narrow palpebral fissure ORPHA:439822
Mucopolysaccharidosis, Type Ii
Papilledema, Ptosis OMIM:309900
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis ORPHA:531151
Fetal Hydantoin Syndrome
Epicanthus, Ptosis ORPHA:1912
Joubert Syndrome 37
Ptosis OMIM:619185
Alexander Disease
Ptosis, Abnormal autonomic nervous system physiology, Facial palsy ORPHA:58
Ruvalcaba Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:3121
Saethre-Chotzen Syndrome
Blepharospasm, Epicanthus, Ptosis, Optic atrophy ORPHA:794
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Highly arched eyebrow, Hooded eyelid, Long eyelashes, Thick eyebrow, Ptosis, Nasolacrimal duct ob... OMIM:610759
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Short palpebral fissure, Ptosis, Upslanted palpebral fissure OMIM:617159
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis OMIM:603387
Frontofacionasal Dysplasia
Ankyloblepharon, Telecanthus, Absent inner eyelashes, Eyelid coloboma, Ptosis, Blepharophimosis, ... OMIM:229400
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Highly arched eyebrow, Sparse lateral eyebrow, Downslanted palpebral fissures, Upslanted palpebra... OMIM:617506
Isolated Complex I Deficiency
Optic disc pallor, Ptosis, Optic neuropathy ORPHA:2609
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Long eyelashes, Highly arched eyebrow, Short palpebral fissure, Ptosis OMIM:615866
Lymphedema-Distichiasis Syndrome
Ectropion, Conjunctivitis, Distichiasis, Ptosis ORPHA:33001
Intellectual Developmental Disorder, Autosomal Recessive 65
Ptosis, Downslanted palpebral fissures OMIM:618109
Marden-Walker Syndrome
Epicanthus, Ptosis, Blepharophimosis OMIM:248700
Acrocraniofacial Dysostosis
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:949
Trisomy 17P
Broad eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:261290
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Ptosis ORPHA:364028
Aase-Smith Syndrome I
Ptosis OMIM:147800
Microphthalmia/Coloboma 9
Ptosis, Narrow palpebral fissure OMIM:615145
Cenani-Lenz Syndrome
Ectropion, Ptosis, Downslanted palpebral fissures ORPHA:3258
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Eversion of lateral third of lower eyelids, Highly arched eyebrow, Sparse eyebrow, Optic atrophy,... ORPHA:487796
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis ORPHA:2824
Moebius Syndrome
Epicanthus, Ptosis, Blepharitis, Facial palsy ORPHA:570
Cree Impaired Intellectual Development Syndrome
Ptosis, Downslanted palpebral fissures OMIM:606851
Multiple Pterygium Syndrome, Escobar Variant
Axillary pterygium, Intercrural pterygium, Popliteal pterygium, Neck pterygia, Downslanted palpeb... OMIM:265000
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ptosis OMIM:609286
Arthrogryposis, Distal, Type 1A
Ptosis OMIM:108120
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Popliteal pterygium, Downslanted palpebral fissures, Multiple pterygia, Ptosis, Antecubital ptery... OMIM:178110
Arthrogryposis, Distal, Type 5D
Highly arched eyebrow, Ptosis, Lagophthalmos OMIM:615065
Intestinal Botulism
Ptosis ORPHA:178481
Beck-Fahrner Syndrome
Lacrimal duct stenosis, Ptosis OMIM:618798
Scarf Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures ORPHA:3134
Toxin-Mediated Infectious Botulism
Ptosis ORPHA:230800
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis OMIM:613077
Emanuel Syndrome
Ptosis, Upslanted palpebral fissure, Hooded eyelid ORPHA:96170
Aniridia 1
Ptosis, Optic nerve hypoplasia, Bilateral ptosis OMIM:106210
Cerebrooculonasal Syndrome
Sparse eyebrow, Sparse eyelashes, Epicanthus, Ptosis, Optic nerve hypoplasia OMIM:605627
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Ptosis OMIM:617563
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Ptosis, Optic disc coloboma ORPHA:1454
Ehlers-Danlos Syndrome, Classic-Like, 2
Thin eyebrow, Ptosis, Bilateral ptosis OMIM:618000
Angelman Syndrome
Optic disc pallor, Ptosis, Optic atrophy ORPHA:72
Koolen-De Vries Syndrome
Epicanthus, Upslanted palpebral fissure, Ptosis, Blepharophimosis ORPHA:96169
3Mc Syndrome 1
Highly arched eyebrow, Downslanted palpebral fissures, Telecanthus, Conjunctival telangiectasia, ... OMIM:257920
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Ptosis OMIM:560000
Cdags Syndrome
Ectropion, Sparse eyebrow, Ptosis, Sparse eyelashes OMIM:603116
Kosaki Overgrowth Syndrome
Xanthelasma, Ptosis, Downslanted palpebral fissures OMIM:616592
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Ptosis, Pseudopapilledema OMIM:146255
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Ptosis, Blepharophimosis ORPHA:2031
Muenke Syndrome
Ptosis ORPHA:53271
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Short palpebral fissure, Ptosis, Telecanthus, Blepharophimosis OMIM:217980
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:616449
Arthrogryposis, Distal, Type 3
Epicanthus, Ptosis OMIM:114300
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Ptosis, Upslanted palpebral fissure OMIM:619758
Tyshchenko Syndrome
Ptosis OMIM:615102
8Q21.11 Microdeletion Syndrome
Epicanthus, Ptosis, Blepharophimosis, Downslanted palpebral fissures ORPHA:284160
Refsum Disease, Classic
Ptosis OMIM:266500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Ptosis, Facial palsy OMIM:157640
Beare-Stevenson Cutis Gyrata Syndrome