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Gene: Artn MGI:1333791

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

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 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.

Human diseases associated with Artn (0 diseases)
Human diseases predicted to be associated with Artn (782 diseases)

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	Matching phenotypes	Source
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis	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
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Facial palsy, Progressive ptosis	OMIM:164300
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Facial palsy, Ptosis	OMIM:617732
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	Facial palsy, Ptosis	OMIM:609283
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome	Ptosis, Highly arched eyebrow, Synophrys, Blepharophimosis, Thick eyebrow, Abnormal cranial nerve...	ORPHA:2057
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Optic atrophy	OMIM:300928
Myasthenic Syndrome, Congenital, 15	Ptosis	OMIM:616227
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	DECIPHER:70
Waardenburg Syndrome Type 2	Telecanthus, Aganglionic megacolon, Ptosis	ORPHA:895
Fazio-Londe Disease	Facial diplegia, Ptosis	OMIM:211500
Myasthenic Syndrome, Congenital, 18	Ptosis	OMIM:616330
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis	OMIM:610743
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ptosis	OMIM:243180
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	Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimosis, Ptosis	OMIM:162100
Myasthenic Syndrome, Congenital, 12	Facial palsy, Ptosis	OMIM:610542
Neuropathy, Hereditary Motor And Sensory, Russe Type	Decreased motor nerve conduction velocity, Ptosis	OMIM:605285
Parkinsonism-Dystonia 2, Infantile-Onset	Abnormal autonomic nervous system physiology, Ptosis	OMIM:618049
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	Facial palsy, Ptosis	OMIM:616322
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:616325
Sclerosteosis	Optic atrophy, Facial palsy, Ptosis	ORPHA:3152
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Ptosis, Facial palsy, Frontalis muscle weakness	OMIM:300580
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Horizontal eyebrow, Ptosis	OMIM:619311
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Ptosis	ORPHA:2743
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Yoon-Bellen Neurodevelopmental Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Optic atrophy	OMIM:619701
Spastic Ataxia 1, Autosomal Dominant	Ptosis	OMIM:108600
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy...	ORPHA:97229
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Bilateral ptosis, Optic atrophy	ORPHA:329314
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial...	OMIM:301830
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis ...	OMIM:600638
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Frontalis muscle weakness, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:210745
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Ptosis	OMIM:606242
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial diplegia, ...	OMIM:611890
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
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, Downslanted palpebral fissures, Ptosis	ORPHA:1437
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Ptosis	OMIM:125250
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Ptosis	ORPHA:1373
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Aganglionic megacolon, Ptosis	ORPHA:66629
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Ptosis	OMIM:618238
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Congenital ptosis	OMIM:254190
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Ptosis	OMIM:616681
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Ptosis	OMIM:608930
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis...	OMIM:617523
Myoclonus, Intractable, Neonatal	Optic disc pallor, Ptosis	OMIM:617235
Arthrogryposis, Distal, Type 7	Ptosis	OMIM:158300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Ptosis	ORPHA:171706
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Ptosis	ORPHA:1473
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy, Ptosis	ORPHA:1154
Iatrogenic Botulism	Orthostatic hypotension, Ptosis	ORPHA:254509
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Ptosis	OMIM:169100
Fibrosis Of Extraocular Muscles, Congenital, 1	Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph...	OMIM:135700
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Facial palsy, Ptosis	OMIM:616313
Spinocerebellar Ataxia 50	Froment sign, Ptosis	OMIM:620158
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Ptosis	OMIM:614198
Coffin-Siris Syndrome 8	Long eyelashes, Thick eyebrow, Ptosis	OMIM:618362
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Thick eyebrow, Ptosis	ORPHA:894
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:277720
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Segawa Syndrome, Autosomal Recessive	Ptosis	OMIM:605407
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:608931
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Downslanted palpeb...	OMIM:615834
Myopathy, Centronuclear, 1	Facial palsy, Ptosis	OMIM:160150
Mungan Syndrome	Abnormality of the autonomic nervous system, Bilateral ptosis	OMIM:611376
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Blepharophimosis, Telecanthus, Ptosis	OMIM:606772
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:616323
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616326
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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ptosis	OMIM:617069
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis	OMIM:616321
Cluster Headache, Familial	Ptosis	OMIM:119915
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Ptosis	ORPHA:438178
Ascher Syndrome	Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology	ORPHA:1253
Progressive Hemifacial Atrophy	Ptosis	ORPHA:1214
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis	OMIM:617268
Arthrogryposis, Distal, Type 2B3	Downslanted palpebral fissures, Ptosis	OMIM:618436
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis	OMIM:618736
Deafness, X-Linked 7	Telecanthus, Thick eyebrow, Ptosis	OMIM:301018
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Ptosis	ORPHA:254881
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	ORPHA:3038
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ...	OMIM:300590
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Ptosis	OMIM:619422
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis	ORPHA:589905
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	ORPHA:1390
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Facial palsy, Lagophthalmos	OMIM:614744
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Ptosis	ORPHA:2958
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Narrow palpebral fissure, Ptosis	OMIM:301900
Proximal Xq28 Duplication Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:1762
11Q22.2Q22.3 Microdeletion Syndrome	Epicanthus, Thick eyebrow, Ptosis	ORPHA:444002
Joubert Syndrome 26	Ptosis	OMIM:616784
Warburg Micro Syndrome 1	Optic atrophy, Ptosis	OMIM:600118
Frontoocular Syndrome	Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:605321
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Ptosis	OMIM:619527
Congenital Ptosis	Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Congenital facial diplegia, Epicanthu...	ORPHA:91411
Autosomal Dominant Optic Atrophy Plus Syndrome	Temporal optic disc pallor, Absent brainstem auditory responses, Optic atrophy, Bilateral ptosis	ORPHA:1215
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Ptosis	ORPHA:83619
Prieto Syndrome	Epicanthus, Ptosis	OMIM:309610
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ptosis	OMIM:618637
Oculopharyngodistal Myopathy 2	Ptosis	OMIM:618940
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Ptosis	ORPHA:401768
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619989
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ptosis	OMIM:617070
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Ptosis	ORPHA:1875
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Ptosis	OMIM:252011
Ophthalmoplegia, External, And Myopia	Ptosis	OMIM:311000
Proteus Syndrome	Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Li-Campeau Syndrome	Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:619189
Autosomal Dominant Spastic Ataxia Type 1	Ptosis, Abnormal eyelid morphology	ORPHA:251282
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
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Epicanthus, Ptosis	ORPHA:1825
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Facial palsy, Ptosis	ORPHA:254886
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral...	OMIM:301069
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis	ORPHA:228396
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Ptosis	OMIM:616324
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Ptosis	OMIM:255310
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Ptosis	OMIM:615280
Oculopharyngeal Muscular Dystrophy	Ptosis	ORPHA:270
Neonatal Adrenoleukodystrophy	Optic atrophy, Ptosis	ORPHA:44
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis	ORPHA:330054
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Optic atrophy, Ptosis	OMIM:613559
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis	ORPHA:3440
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Ptosis	OMIM:618226
Legius Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611431
Fibrosis Of Extraocular Muscles, Congenital, 2	Bilateral ptosis, Congenital fibrosis of extraocular muscles	OMIM:602078
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Blepharophimosis, Telecanthus, Ptosis	ORPHA:397973
Hypotonia-Cystinuria Syndrome	Epicanthus, Ptosis	ORPHA:163690
Intellectual Developmental Disorder With Autism And Macrocephaly	Downslanted palpebral fissures, Ptosis	OMIM:615032
Purpura Simplex	Ptosis	OMIM:179000
Myasthenic Syndrome, Congenital, 10	Ptosis	OMIM:254300
Frias Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:609640
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Trisomy 5P	Ptosis	ORPHA:1742
Terminal Osseous Dysplasia	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:300244
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Myopathy, Centronuclear, 2	Facial palsy, Ptosis	OMIM:255200
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis	OMIM:110150
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ptosis	OMIM:615084
Stickler Syndrome, Type Vi	Downslanted palpebral fissures, Ptosis	OMIM:620022
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Ptosis	ORPHA:93262
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Optic disc pallor, Ptosis	ORPHA:363429
Intellectual Developmental Disorder, Autosomal Dominant 23	Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:615761
Non-Distal Deletion 10Q	Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys	ORPHA:1581
Spinocerebellar Ataxia Type 28	Ptosis	ORPHA:101109
Baraitser-Winter Syndrome 2	Long palpebral fissure, Telecanthus, Highly arched eyebrow, Ptosis	OMIM:614583
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ptosis	OMIM:254210
Orthostatic Hypotension 1	Orthostatic hypotension, Ptosis	OMIM:223360
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Optic atrophy, Ptosis	ORPHA:1185
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Synophrys, Ptosis	OMIM:616083
Mosaic Trisomy 14	Blepharophimosis, Ptosis	ORPHA:1703
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ptosis	OMIM:146500
Craniosynostosis 3	Ptosis	OMIM:615314
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:457365
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Ptosis	ORPHA:207
Hartsfield Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Congenital Myopathy 1B, Autosomal Recessive	Facial palsy, Ptosis	OMIM:255320
Noonan Syndrome 11	Downslanted palpebral fissures, Ptosis	OMIM:618499
Mcdonough Syndrome	Synophrys, Short palpebral fissure, Ptosis	ORPHA:2471
Leigh Syndrome	Optic atrophy, Ptosis	OMIM:256000
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ptosis	OMIM:605809
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:300882
Myasthenia Gravis	Facial palsy, Ptosis	OMIM:254200
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Narrow palpebral ...	OMIM:619293
Microphthalmia, Syndromic 13	Ptosis	OMIM:300915
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal fifth cranial nerve morphology	ORPHA:91412
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Ptosis, Abnormal upper motor neuron morphology	ORPHA:275872
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Ptosis	OMIM:617664
Hypotonia-Cystinuria Syndrome	Long eyelashes, Facial palsy, Ptosis	OMIM:606407
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Ptosis	ORPHA:2229
Congenital Myasthenic Syndromes With Glycosylation Defect	Facial palsy, Ptosis	ORPHA:353327
Cleft Palate-Large Ears-Small Head Syndrome	Ptosis	ORPHA:2013
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615433
Neurofibromatosis-Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:638
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia, Epicanthus, Ptosis	OMIM:618186
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Ptosis	OMIM:109150
Myasthenic Syndrome, Congenital, 5	Ptosis	OMIM:603034
Childhood-Onset Nemaline Myopathy	Facial diplegia, Ptosis	ORPHA:171439
Distal Duplication 15Q	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:1707
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Optic atrophy, Blepharophimosis, Broad eyebrow, Ptosis	ORPHA:494344
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:2318
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Downslanted palpebral fissu...	OMIM:609460
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl...	ORPHA:1791
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Facial diplegia, Ptosis	ORPHA:521411
Non-Specific Early-Onset Epileptic Encephalopathy	Downslanted palpebral fissures, Optic atrophy, Ptosis	ORPHA:442835
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:3236
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Aganglionic megacolon, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:613603
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Ptosis	OMIM:619972
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Ptosis	OMIM:615911
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:613792
Coffin-Siris Syndrome 5	Long eyelashes, Thick eyebrow, Ptosis	OMIM:616938
Joubert Syndrome With Renal Defect	Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:220497
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Ptosis	OMIM:221320
Developmental And Epileptic Encephalopathy 18	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:615476
Rhyns Syndrome	Ptosis	ORPHA:140976
Congenital Myopathy 6 With Ophthalmoplegia	Ptosis	OMIM:605637
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Ptosis	OMIM:610539
Joubert Syndrome 8	Optic disc pallor, Ptosis	OMIM:612291
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Ptosis	OMIM:615009
Coenzyme Q10 Deficiency, Primary, 4	Ptosis	OMIM:612016
Diabetes And Deafness, Maternally Inherited	Ptosis	OMIM:520000
Joubert Syndrome	Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:475
Combined Oxidative Phosphorylation Deficiency 20	Ptosis	OMIM:615917
Hengel-Maroofian-Schols Syndrome	Epicanthus, Synophrys, Thick eyebrow, Ptosis	OMIM:619641
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Ptosis	OMIM:601462
Dermoodontodysplasia	Ptosis, Abnormal eyelid morphology	ORPHA:1660
Joubert Syndrome 35	Telecanthus, Synophrys, Highly arched eyebrow, Ptosis	OMIM:618161
Juberg-Hayward Syndrome	Highly arched eyebrow, Ptosis	OMIM:216100
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens...	ORPHA:298
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis	ORPHA:2064
Congenital Myopathy With Myasthenic-Like Onset	Ptosis	ORPHA:424107
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio...	OMIM:105210
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis	ORPHA:1259
Intellectual Disability-Developmental Delay-Contractures Syndrome	Ptosis	ORPHA:3454
Teebi Hypertelorism Syndrome 2	Upper eyelid coloboma, Thick eyebrow, Ptosis	OMIM:619736
Tetrasomy 12P	Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis	ORPHA:884
Chromosome 2P16.1-P15 Deletion Syndrome	Telecanthus, Epicanthus, Optic nerve hypoplasia, Blepharophimosis, Downslanted palpebral fissures...	OMIM:612513
Perlman Syndrome	Epicanthus, Ptosis	ORPHA:2849
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis	ORPHA:1067
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Ptosis	ORPHA:2868
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Ptosis	OMIM:615278
Myasthenic Syndrome, Congenital, 22	Ptosis	OMIM:616224
Postsynaptic Congenital Myasthenic Syndromes	Facial palsy, Ptosis	ORPHA:98913
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Facial palsy, Ptosis	ORPHA:3068
Myasthenic Syndrome, Congenital, 20, Presynaptic	Facial palsy, Ptosis	OMIM:617143
Freeman-Sheldon Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2053
Congenital Disorder Of Glycosylation, Type Iio	Downslanted palpebral fissures, Ptosis	OMIM:616828
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy, Ptosis	OMIM:609037
Myopathy With Extrapyramidal Signs	Epicanthus, Optic atrophy, Ptosis	OMIM:615673
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ptosis	OMIM:618225
Infantile Sialic Acid Storage Disease	Epicanthus, Ptosis	OMIM:269920
Developmental And Epileptic Encephalopathy 84	Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
Oculopharyngodistal Myopathy 3	Ptosis	OMIM:619473
Joubert Syndrome With Ocular Defect	Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:220493
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis	OMIM:614424
Hadziselimovic Syndrome	Epicanthus, Ptosis	OMIM:612946
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Optic atrophy, Facial palsy, Ptosis	OMIM:258450
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis	OMIM:613561
Birk-Landau-Perez Syndrome	Upslanted palpebral fissure, Long eyelashes, Optic atrophy, Ptosis	OMIM:617595
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis	ORPHA:2988
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome	Optic atrophy, Ptosis	ORPHA:137898
Isolated Atp Synthase Deficiency	Optic atrophy, Ptosis	ORPHA:254913
Fetal Trimethadione Syndrome	Epicanthus, Synophrys, Ptosis	ORPHA:1913
Spinocerebellar Ataxia, Autosomal Recessive 13	Ptosis	OMIM:614831
Thrombocytopenia, Paris-Trousseau Type	Ptosis	OMIM:188025
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ptosis	OMIM:615838
Spinocerebellar Ataxia 28	Ptosis	OMIM:610246
Arthrogryposis, Distal, Type 5	Blepharophimosis, Epicanthus, Ptosis	OMIM:108145
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Epicanthus, Optic atrophy, Lacrimal duct stenosis, Ptosis	ORPHA:457193
Congenital Myopathy 19	Ptosis	OMIM:618578
Keipert Syndrome	Epicanthus, Ptosis	ORPHA:2662
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:1778
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:391372
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis	OMIM:608423
King-Denborough Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:619542
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616801
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Optic atrophy, Ptosis	ORPHA:98673
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Ptosis	OMIM:618155
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ptosis	OMIM:616239
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Ptosis	OMIM:614261
Wieacker-Wolff Syndrome	Upslanted palpebral fissure, Facial palsy, Ptosis	OMIM:314580
Auriculocondylar Syndrome 2A	Ptosis	OMIM:614669
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Optic atrophy, Ptosis	OMIM:615663
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Sparse eyebrow, Optic atrophy, Lon...	ORPHA:261349
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Upslanted palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:618659
Coffin-Siris Syndrome 3	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614608
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:617333
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis	ORPHA:663
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Euryblephar...	ORPHA:2995
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Ptosis	OMIM:619566
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Bilateral ptosis, Ptosis	OMIM:616479
Combined Oxidative Phosphorylation Deficiency 47	Ptosis	OMIM:618958
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:157835
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Optic atrophy, Ptosis	OMIM:220500
Inclusion Body Myopathy And Brain White Matter Abnormalities	Ptosis	OMIM:619733
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse eyelashes, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:619075
Noonan Syndrome 9	Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:616559
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis	OMIM:615156
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ptosis	OMIM:617468
4Q21 Microdeletion Syndrome	Synophrys, Long eyelashes, Ptosis	ORPHA:238750
Leukodystrophy, Hypomyelinating, 20	Ptosis	OMIM:619071
Wolfram Syndrome 1	Optic atrophy, Ptosis	OMIM:222300
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Bleph...	OMIM:617360
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Eve...	OMIM:616737
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ptosis	OMIM:312170
Brown-Vialetto-Van Laere Syndrome 1	Ptosis, Facial palsy, Cranial nerve motor loss	OMIM:211530
Joubert Syndrome 3	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:608629
Ohdo Syndrome	Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis	OMIM:249620
Wagr Syndrome	Ptosis	ORPHA:893
Distal Duplication 6P	Abnormal eyelash morphology, Blepharophimosis, Ptosis	ORPHA:1745
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Ptosis	OMIM:300352
Coffin-Siris Syndrome 2	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614607
Myasthenic Syndrome, Congenital, 14	Ptosis	OMIM:616228
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Ptosis	OMIM:618098
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissure...	OMIM:620098
Autosomal Recessive Dopa-Responsive Dystonia	Ptosis	ORPHA:101150
Myasthenic Syndrome, Congenital, 24, Presynaptic	Ptosis	OMIM:618198
Myasthenic Syndrome, Congenital, 19	Facial palsy, Ptosis	OMIM:616720
Coach Syndrome 3	Ptosis	OMIM:619113
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis	ORPHA:73246
Orofaciodigital Syndrome V	Unilateral ptosis, Downslanted palpebral fissures, Optic disc coloboma, Aganglionic megacolon	OMIM:174300
Frontonasal Dysplasia 1	Epicanthus, Ptosis	OMIM:136760
Combined Oxidative Phosphorylation Defect Type 7	Facial diplegia, Optic atrophy, Ptosis	ORPHA:254930
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	ORPHA:2617
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Oculopharyngodistal Myopathy 4	Ptosis	OMIM:619790
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Ptosis	OMIM:618731
Noonan Syndrome 5	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611553
Aarskog-Scott Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:915
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Facial diplegia, Ptosis	OMIM:612073
Muenke Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:602849
Agel Amyloidosis	Facial palsy, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Orthostatic hypoten...	ORPHA:85448
Chromosome 5Q12 Deletion Syndrome	Long palpebral fissure, Epicanthus, Ptosis	OMIM:615668
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Ptosis	OMIM:301041
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Upslanted palpebral fissure, Epicanthus, Horizontal eyebrow, Ptosis	ORPHA:369891
Acrofrontofacionasal Dysostosis 1	Long eyebrows, Optic atrophy, Long eyelashes, S-shaped palpebral fissures, Ptosis	OMIM:201180
Glycine Encephalopathy With Normal Serum Glycine	Long eyelashes, Optic atrophy, Ptosis	OMIM:617301
Arthrogryposis, Distal, Type 2A	Telecanthus, Epicanthus, Abnormal auditory evoked potentials, Blepharophimosis, Ptosis	OMIM:193700
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissures, Thick eyebrow...	OMIM:617061
Acrofrontofacionasal Dysostosis	Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1784
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Joubert Syndrome 30	Ptosis	OMIM:617622
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure...	OMIM:619087
Weiss-Kruszka Syndrome	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:618619
Spinocerebellar Ataxia 47	Ptosis	OMIM:617931
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Ptosis	ORPHA:168549
Richieri-Costa/Guion-Almeida Syndrome	Eyelid coloboma, Downslanted palpebral fissures, Ptosis	OMIM:268850
Carey-Fineman-Ziter Syndrome	Epicanthus, Downslanted palpebral fissures, Facial palsy, Ptosis	ORPHA:1358
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2496
Baraitser-Winter Syndrome 1	Long palpebral fissure, Epicanthus, Highly arched eyebrow, Ptosis	OMIM:243310
Typical Nemaline Myopathy	Facial diplegia, Facial palsy, Ptosis	ORPHA:171436
Noonan Syndrome 8	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615355
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis	ORPHA:2511
Congenital Myopathy 5 With Cardiomyopathy	Ptosis	OMIM:611705
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bilateral ptosis, Optic atrophy, Long eyelashes, Long palpebral fissure, Downslanted palpebral fi...	ORPHA:324540
Buratti-Harel Syndrome	Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:619314
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Highly arched eyebrow, Ptosis	ORPHA:2319
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	OMIM:210700
X-Linked Mandibulofacial Dysostosis	Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1131
Meckel Syndrome, Type 10	Narrow palpebral fissure, Epicanthus, Ptosis	OMIM:614175
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Facial palsy, Ptosis	ORPHA:98905
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Ptosis	ORPHA:70594
Pyruvate Dehydrogenase E2 Deficiency	Ptosis	OMIM:245348
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Ptosis	OMIM:617854
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:617190
Ophthalmoplegia, Familial Static	Ptosis	OMIM:165000
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis	OMIM:608624
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Ptosis	OMIM:615510
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Facial palsy, Ptosis	OMIM:619424
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4	Facial palsy, Ptosis	OMIM:610131
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Ptosis	OMIM:615351
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissu...	OMIM:613026
Developmental And Epileptic Encephalopathy 110	Ptosis	OMIM:620149
Noonan Syndrome 4	Epicanthus, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:610733
Dworschak-Punetha Neurodevelopmental Syndrome	Ptosis, Sparse lateral eyebrow	OMIM:619955
Spastic Ataxia 5, Autosomal Recessive	Ptosis	OMIM:614487
Rubinstein-Taybi Syndrome	Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpeb...	ORPHA:783
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Antecubital pterygium, Po...	ORPHA:2990
Schwartz-Jampel Syndrome, Type 1	Blepharophimosis, Ptosis, Narrow palpebral fissure, Long eyelashes in irregular rows	OMIM:255800
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp...	ORPHA:141099
Houge-Janssens Syndrome 1	Downslanted palpebral fissures, Ptosis	OMIM:616355
Cardiac Valvular Dysplasia, X-Linked	Ptosis	OMIM:314400
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Ptosis	OMIM:616549
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Ptosis	OMIM:607483
Fountain Syndrome	Epicanthus, Synophrys, Thick eyebrow, Ptosis	ORPHA:3219
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis	OMIM:618170
Pontine Tegmental Cap Dysplasia	Facial palsy, Ptosis	OMIM:614688
Coach Syndrome 1	Optic disc pallor, Ptosis	OMIM:216360
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Blepharo...	OMIM:244450
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:127
Polyvalvular Heart Disease Syndrome	Ptosis	ORPHA:228410
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ptosis	ORPHA:313772
Congenital Disorder Of Glycosylation, Type 2V	Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619493
Dopamine Beta-Hydroxylase Deficiency	Bilateral ptosis, Orthostatic hypotension	ORPHA:230
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:110100
Jackson-Weiss Syndrome	Ptosis	ORPHA:1540
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Ptosis	OMIM:251900
Monosomy 18P	Epicanthus, Ptosis	ORPHA:1598
22Q11.2 Duplication Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1727
Cardiofaciocutaneous Syndrome	Epicanthus, Abnormal eyelash morphology, Optic atrophy, Sparse or absent eyelashes, Long palpebra...	ORPHA:1340
Short Stature And Facioauriculothoracic Malformations	Ptosis	OMIM:609654
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Ptosis	OMIM:618451
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Optic atrophy, Ptosis	ORPHA:1555
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Ptosis	OMIM:247410
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Ptosis	ORPHA:436271
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Abnormality of the autonomic ner...	ORPHA:79138
Joubert Syndrome 7	Ptosis	OMIM:611560
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:300260
Codas Syndrome	Epicanthus, Ptosis	ORPHA:1458
Kury-Isidor Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:619762
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio...	OMIM:147791
Acro-Renal-Ocular Syndrome	Epicanthus, Aganglionic megacolon, Optic disc coloboma, Short palpebral fissure, Ptosis	ORPHA:959
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Ptosis	ORPHA:1915
3Mc Syndrome	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral ...	ORPHA:293843
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ptosis	ORPHA:352447
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:620351
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Optic atrophy, Ptosis	ORPHA:99956
Miller Fisher Syndrome	Facial palsy, Ptosis	ORPHA:98919
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Ptosis	OMIM:239710
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ptosis	OMIM:619046
Ververi-Brady Syndrome	Upslanted palpebral fissure, Ptosis	OMIM:617982
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis	ORPHA:314655
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Long palpebral fissure, Ptosis, Abnormal autonomic nervous system physiology, Shallow orbits	ORPHA:453499
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Highly arched eyebrow, Optic disc coloboma, Ptosis	OMIM:213300
Dystonia 34, Myoclonic	Ptosis	OMIM:619724
Craniosynostosis 6	Ptosis	OMIM:616602
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Absent eyelashes, Optic nerve dysplasia, Palpebral thickening, Downsl...	OMIM:115150
Aniridia-Absent Patella Syndrome	Ptosis	ORPHA:1069
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital bilateral ptosis, Ptosis	ORPHA:73272
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Narrow palpebral fissure, Downslanted ...	OMIM:613776
Congenital Fibrosis Of Extraocular Muscles	Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Optic nerve hyp...	ORPHA:45358
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Ptosis	ORPHA:2522
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615829
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Facial palsy, Lagophthalmos, Downslanted palpebral fissures, Ptosis	OMIM:254940
2Q31.1 Microdeletion Syndrome	Epicanthus, Synophrys, Optic disc coloboma, Downslanted palpebral fissures, Short palpebral fissu...	ORPHA:251014
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Abnormal shape of the palpebral fissure, Downslanted palpebral fissu...	ORPHA:363659
Synaptic Congenital Myasthenic Syndromes	Bilateral ptosis, Facial palsy, Ptosis	ORPHA:98915
Myopathy, Myofibrillar, 8	Ptosis	OMIM:617258
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Ptosis	OMIM:220110
Char Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:46627
Fetal Hydantoin Syndrome	Epicanthus, Ptosis	ORPHA:1912
Joubert Syndrome 37	Ptosis	OMIM:619185
Pde4D Haploinsufficiency Syndrome	Long palpebral fissure, Narrow palpebral fissure, Ptosis	ORPHA:439822
Saethre-Chotzen Syndrome	Blepharospasm, Epicanthus, Optic atrophy, Ptosis	ORPHA:794
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Ptosis	ORPHA:531151
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasolacrimal duct ob...	OMIM:610759
Ruvalcaba Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:3121
Alexander Disease	Abnormal autonomic nervous system physiology, Facial palsy, Ptosis	ORPHA:58
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Ptosis	OMIM:606220
Sifrim-Hitz-Weiss Syndrome	Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Ptosis	OMIM:617159
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Upslan...	OMIM:617506
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Ptosis	OMIM:603387
Visceral Myopathy, Familial, With External Ophthalmoplegia	Ptosis	OMIM:277320
Marden-Walker Syndrome	Blepharophimosis, Epicanthus, Ptosis	OMIM:248700
Frontofacionasal Dysplasia	Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs...	OMIM:229400
Moebius Syndrome	Epicanthus, Blepharitis, Facial palsy, Ptosis	ORPHA:570
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
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	ORPHA:33001
Intestinal Botulism	Ptosis	ORPHA:178481
Isolated Complex I Deficiency	Optic disc pallor, Optic neuropathy, Ptosis	ORPHA:2609
Acrocraniofacial Dysostosis	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:949
Toxin-Mediated Infectious Botulism	Ptosis	ORPHA:230800
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Ptosis	ORPHA:364028
Trisomy 17P	Downslanted palpebral fissures, Broad eyebrow, Ptosis	ORPHA:261290
Cenani-Lenz Syndrome	Ectropion, Downslanted palpebral fissures, Ptosis	ORPHA:3258
Microphthalmia, Isolated, With Coloboma 9	Narrow palpebral fissure, Ptosis	OMIM:615145
Mucopolysaccharidosis, Type Ii	Papilledema, Ptosis	OMIM:309900
Aase-Smith Syndrome I	Ptosis	OMIM:147800
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Ptosis	ORPHA:2824
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pterygium, Intercru...	OMIM:265000
Arthrogryposis, Distal, Type 5D	Ptosis, Highly arched eyebrow, Lagophthalmos	OMIM:615065
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt...	OMIM:178110
Intellectual Developmental Disorder, Autosomal Recessive 65	Downslanted palpebral fissures, Ptosis	OMIM:618109
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ptosis	OMIM:609286
Orofaciodigital Syndrome Xvi	Short palpebral fissure, Ptosis	OMIM:617563
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Eve...	ORPHA:487796
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:3134
Arthrogryposis, Distal, Type 1A	Ptosis	OMIM:108120
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Ptosis	OMIM:618798
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Synophrys, Blepharophimosis, Epi...	OMIM:257920
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis	OMIM:613077
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis	OMIM:605627
Angelman Syndrome	Optic disc pallor, Optic atrophy, Ptosis	ORPHA:72
Emanuel Syndrome	Upslanted palpebral fissure, Hooded eyelid, Ptosis	ORPHA:96170
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Optic atrophy, Ptosis	OMIM:618164
Koolen-De Vries Syndrome	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	ORPHA:96169
Joubert Syndrome With Hepatic Defect	Optic disc coloboma, Highly arched eyebrow, Ptosis	ORPHA:1454
Muenke Syndrome	Ptosis	ORPHA:53271
Tukel Syndrome	Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Blepharophimosis, Ptosis	ORPHA:2031
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Pseudopapilledema, Ptosis	OMIM:146255
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis	OMIM:217980
Cdags Syndrome	Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis	OMIM:603116
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Thin eyebrow, Ptosis	OMIM:618000
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ptosis	OMIM:560000
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616449
Arthrogryposis, Distal, Type 3	Epicanthus, Ptosis	OMIM:114300
8Q21.11 Microdeletion Syndrome	Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:284160
Arachnoid Cyst	Cranial nerve compression, Facial palsy, Ptosis	ORPHA:2356
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Ptosis	OMIM:616592
Refsum Disease, Classic	Ptosis	OMIM:266500
Tyshchenko Syndrome	Ptosis	OMIM:615102
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:606851
Acromelic Frontonasal Dysostosis	Telecanthus, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis	OMIM:603671
Beare-Stevenson Cutis Gyrata Syndrome	Downslanted palpebral fissures, Optic atrophy, Ptosis	OMIM:123790
3Mc Syndrome 3	Blepharophimosis, Epicanthus inversus, Highly arched eyebrow, Ptosis	OMIM:248340
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis	OMIM:606232
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Facial palsy, Ptosis	OMIM:157640
Giant Cell Arteritis	Optic atrophy, Ptosis	ORPHA:397
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Ptosis	ORPHA:1647
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis	ORPHA:257
Aniridia 1	Bilateral ptosis, Optic nerve hypoplasia, Ptosis	OMIM:106210
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Ptosis	OMIM:212112
Congenital Myasthenic Syndrome	Ptosis, Frontalis muscle weakness	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ptosis, Frontalis muscle weakness	ORPHA:98914
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:614230
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:619758
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:618050
Wound Botulism	Ptosis	ORPHA:178475
Branchio-Oculo-Facial Syndrome	Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis	ORPHA:1297
Spinocerebellar Ataxia 36	Ptosis	OMIM:614153
Visual Impairment And Progressive Phthisis Bulbi	Ptosis	OMIM:618283
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:264200
Gjc2-Related Late-Onset Primary Lymphedema	Ptosis	ORPHA:568051
Brain Dopamine-Serotonin Vesicular Transport Disease	Ptosis	ORPHA:352649
Insulin-Like Growth Factor I Deficiency	Ptosis	OMIM:608747
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash...	ORPHA:2526
Spinocerebellar Ataxia Type 36	Ptosis	ORPHA:276198
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis	ORPHA:13
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral fissure, Ptosis	ORPHA:319182
Inhalational Botulism	Ptosis	ORPHA:254504
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis	ORPHA:1323
Oculogastrointestinal Muscular Dystrophy	Ptosis	ORPHA:1876
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:305400
Lateral Meningocele Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2789
Van Maldergem Syndrome 2	Epicanthus, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:615546
Gabriele-De Vries Syndrome	Telecanthus, Sparse eyebrow, Epiblepharon, Downslanted palpebral fissures, Ptosis	OMIM:617557
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Ptosis	OMIM:300845
Autosomal Dominant Centronuclear Myopathy	Ptosis	ORPHA:169189
Galloway-Mowat Syndrome 1	Epicanthus, Optic atrophy, Ptosis	OMIM:251300
Van Maldergem Syndrome 1	Blepharophimosis, Epicanthus, Short palpebral fissure, Ptosis	OMIM:601390
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:300895
Rhyns Syndrome	Ptosis	OMIM:602152
Holoprosencephaly	Epicanthus, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Blephar...	ORPHA:2162
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Blepharophimosis, Telecanthus, Long eyelashes, Ptosis	OMIM:604314
3Mc Syndrome 2	Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis	OMIM:265050
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atrophy, Long eyela...	OMIM:122470
Arthrogryposis Multiplex Congenita 5	Upslanted palpebral fissure, Optic disc pallor, Ptosis	OMIM:618947
Chilton-Okur-Chung Neurodevelopmental Syndrome	Septo-optic dysplasia, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Sy...	OMIM:619841
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Facial palsy, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissu...	OMIM:615873
Oculofaciocardiodental Syndrome	Highly arched eyebrow, Ptosis	ORPHA:2712
Infant Botulism	Keratoconjunctivitis sicca, Ptosis	ORPHA:178478
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Ptosis	ORPHA:2728
Reni Syndrome	Ptosis	OMIM:617575
Pfeiffer Syndrome	Ptosis	ORPHA:710
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:104350
Distal Deletion 3P	Blepharophimosis, Epicanthus, Telecanthus, Ptosis	ORPHA:1620
Prolidase Deficiency	Ptosis	OMIM:170100
Refsum Disease	Ptosis	ORPHA:773
Six2-Related Frontonasal Dysplasia	Epicanthus inversus, Ptosis	ORPHA:488437
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:312830
Kbg Syndrome	Telecanthus, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Pt...	OMIM:148050
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Upslanted palpebral fissure, Telecanthus, Ptosis	OMIM:620224
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2215
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Epicanthus inversus, Downslanted pa...	OMIM:309590
X-Linked Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98863
Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy	Ptosis	ORPHA:98853
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Facial palsy, Ptosis	OMIM:164310
Chromosome 18P Deletion Syndrome	Epicanthus, Ptosis	OMIM:146390
Koolen-De Vries Syndrome	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	OMIM:610443
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Long eyelashes, Ptosis	OMIM:618268
Leigh Syndrome	Optic atrophy, Ptosis	ORPHA:506
Lateral Meningocele Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:130720
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	OMIM:153400
Rapp-Hodgkin Syndrome	Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis	OMIM:129400
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Ptosis	OMIM:616723
Congenital Myopathy 13	Telecanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:255995
Foodborne Botulism	Ptosis	ORPHA:228371
Acromelic Frontonasal Dysplasia	Telecanthus, Ptosis	ORPHA:1827
Joubert Syndrome 21	Ptosis, Optic atrophy, Megalopapilla	OMIM:615636
Holoprosencephaly 4	Ptosis	OMIM:142946
Smith-Lemli-Opitz Syndrome	Epicanthus, Aganglionic megacolon, Abnormal eyelash morphology, Optic atrophy, Upslanted palpebra...	ORPHA:818
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:464738
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ptosis	OMIM:615453
Autosomal Recessive Ataxia, Beauce Type	Ptosis	ORPHA:88644
Fanconi Anemia	Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Almond-shaped palpebral fissure, U...	ORPHA:84
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Long eyelashes, Thick ...	OMIM:213980
Loeys-Dietz Syndrome 4	Downslanted palpebral fissures, Ptosis	OMIM:614816
Wagro Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:612469
Noonan Syndrome 10	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616564
Cardiac-Valvular Ehlers-Danlos Syndrome	Thick eyebrow, Ptosis	ORPHA:230851
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse lateral eyebrow	OMIM:223370
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow...	OMIM:154500
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Epicanthus inversus, Ptosis	OMIM:617062
Autosomal Recessive Spastic Paraplegia Type 77	Ptosis	ORPHA:466722
Kearns-Sayre Syndrome	Ptosis	OMIM:530000
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Ptosis	OMIM:613385
Mitochondrial Complex I Deficiency, Nuclear Type 1	Upslanted palpebral fissure, Optic disc pallor, Optic neuropathy, Ptosis	OMIM:252010
Shprintzen-Goldberg Craniosynostosis Syndrome	Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits	OMIM:182212
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:616728
Combined Oxidative Phosphorylation Deficiency 33	Ptosis	OMIM:617713
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Keratoconjunctivitis sicca, Thick eyebrow, Ptosis	OMIM:616007
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper eyelid edema, Con...	OMIM:616268
Frontorhiny	Epicanthus, Ptosis	ORPHA:391474
Myasthenia, Limb-Girdle, Autoimmune	Ptosis	OMIM:159400
Au-Kline Syndrome	Lagophthalmos, Shallow orbits, Long palpebral fissure, Downslanted palpebral fissures, Sparse lat...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:616078
Congenital Myopathy 17	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:618975
Noonan Syndrome 2	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:605275
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Ptosis	OMIM:608643
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted palpebral fissu...	OMIM:616734
22Q11.2 Deletion Syndrome	Telecanthus, Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Optic atrophy, Upslan...	ORPHA:567
Multiple Synostoses Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:186500
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Facial palsy, Ptosis	ORPHA:254892
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Hooded upper eyelid, Ptosis	OMIM:618548
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Sparse lateral eyebrow	ORPHA:235
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ptosis	OMIM:309520
Lathosterolosis	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:46059
Neurofaciodigitorenal Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2673
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Shallow orbits, Long palpebral fissure, Eversion of lateral third of lowe...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Shallow orbits, Long palpebral fissure, Eversion of lateral third of lowe...	ORPHA:352665
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Ptosis	OMIM:309583
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ptosis	ORPHA:70595
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis	OMIM:167100
Neutral Lipid Storage Disease With Ichthyosis	Ectropion, Ptosis	ORPHA:98907
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr...	OMIM:613458
Autosomal Dominant Robinow Syndrome	Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal...	ORPHA:3107
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis	ORPHA:280
Loeys-Dietz Syndrome 5	Long palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615582
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Ptosis	OMIM:272950
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Ptosis	OMIM:614231
Autosomal Recessive Robinow Syndrome	Epicanthus, Upslanted palpebral fissure, Long eyelashes, Long palpebral fissure, Downslanted palp...	ORPHA:1507
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Eyelid coloboma, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Duane Retraction Syndrome	Blepharophimosis, Blepharospasm, Short palpebral fissure, Ptosis	ORPHA:233
Spondylodysplastic Ehlers-Danlos Syndrome	Optic disc coloboma, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis	ORPHA:536471
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis	ORPHA:3217
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:300661
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis	ORPHA:306542
Shprintzen-Goldberg Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2462
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:369950
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:301066
Koolen-De Vries Syndrome Due To A Point Mutation	Epicanthus, Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Epicanthus, Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure...	ORPHA:363958
Phace Syndrome	Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis	ORPHA:42775
Combined Oxidative Phosphorylation Deficiency 12	Ptosis	OMIM:614924
Myasthenia Gravis	Ptosis	ORPHA:589
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Blepharospasm, Long eyelashes in irregular rows, Blepharophimosis, D...	ORPHA:800
Auriculocondylar Syndrome	Ptosis	ORPHA:137888
Jacobsen Syndrome	Epicanthus, Ectropion, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the...	ORPHA:2308
Arima Syndrome	Optic atrophy, Ptosis	OMIM:243910
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Downslanted palpebral fissures, Epicanthus, Long eyelashes, Ptosis	OMIM:607721
Nail-Patella Syndrome	Antecubital pterygium, Ptosis	OMIM:161200
Neuroocular Syndrome	Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L...	OMIM:619539
Charge Syndrome	Epicanthus, Facial palsy, Highly arched eyebrow, Optic atrophy, Abnormal cranial nerve morphology...	ORPHA:138
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Ptosis	OMIM:615273
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:613563
Hunter-Macdonald Syndrome	Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:611962
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Ptosis	OMIM:259100
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim...	OMIM:618332
Zygomycosis	Ptosis, Chemosis, Abnormal cranial nerve morphology	ORPHA:73263
Non-Functioning Pituitary Adenoma	Ptosis	ORPHA:91349
17Q24.2 Microdeletion Syndrome	Synophrys, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:529962
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Long eyelashes, Eversion of lateral third of lower eyelids, Sparse...	ORPHA:2322
Primary Hepatic Neuroendocrine Carcinoma	Ptosis	ORPHA:100085
Glycogen Storage Disease Xii	Epicanthus, Ptosis	OMIM:611881
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Optic disc coloboma, Short palpebral fissure, Ptosis	OMIM:617157
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Ptosis	ORPHA:228426
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissure, Ptosis	OMIM:618820
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Sparse lateral eyebrow, Ptosis	OMIM:280000
Myhre Syndrome	Blepharophimosis, Short palpebral fissure, Ptosis	ORPHA:2588
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Ptosis	OMIM:615895
Neurofibromatosis-Noonan Syndrome	Ptosis, Epicanthus, Downslanted palpebral fissures, Lisch nodules	OMIM:601321
Pituitary Apoplexy	Ptosis	ORPHA:95613
Opitz Gbbb Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2745
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun...	ORPHA:2363
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis	OMIM:609945
Noonan Syndrome 3	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:609942
Lathosterolosis	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:607330
Smith-Lemli-Opitz Syndrome	Epicanthus, Aganglionic megacolon, Ptosis	OMIM:270400
Kallmann Syndrome	Ptosis	ORPHA:478
Ayme-Gripp Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:601088
Malignant Atrophic Papulosis	Ptosis	ORPHA:679
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ...	ORPHA:444077
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Prolactinoma	Ptosis	ORPHA:2965
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ptosis	OMIM:607459
Good Syndrome	Ptosis	ORPHA:169105
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:225400
Costello Syndrome	Epicanthus, Vestibular schwannoma, Downslanted palpebral fissures, Ptosis	OMIM:218040
Vici Syndrome	Epicanthus, Ptosis	OMIM:242840
Noonan Syndrome With Multiple Lentigines	Ptosis	ORPHA:500
Chime Syndrome	Upslanted palpebral fissure, Epicanthus, Ptosis	ORPHA:3474
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Ptosis	OMIM:619934
Marden-Walker Syndrome	Blepharophimosis, Short palpebral fissure, Ptosis	ORPHA:2461
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Long eyelashes, ...	OMIM:180849
Mowat-Wilson Syndrome	Downslanted palpebral fissures, Aganglionic megacolon, Broad eyebrow, Ptosis	OMIM:235730
Monosomy 22Q13.3	Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis	ORPHA:48652
Pachydermoperiostosis	Ptosis	ORPHA:2796
Coffin-Siris Syndrome 4	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614609
Erdheim-Chester Disease	Xanthelasma, Ptosis	ORPHA:35687
Mesomelia-Synostoses Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:600383
Abetalipoproteinemia	Keratoconjunctivitis sicca, Ptosis	ORPHA:14
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ptosis	OMIM:620303
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Ptosis	ORPHA:17
Coffin-Siris Syndrome	Prominent eyelashes, Thick eyebrow, Ptosis	ORPHA:1465
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Highly arched eyebrow, Ptosis	ORPHA:2282
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyelashes, Absent eyebrow, Aganglionic megacolon, Ptosis	OMIM:308205
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Ptosis	ORPHA:2072
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	ORPHA:506358
Specc1L-Related Hypertelorism Syndrome	Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:1519
Codas Syndrome	Ptosis	OMIM:600373
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Long palpebral fiss...	OMIM:147920
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis	ORPHA:1969
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ptosis	OMIM:603041
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Epicanthus, Keratoconjunctivitis sicca, Ptosis	ORPHA:285
Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:648
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis	OMIM:617239
Fetal Akinesia Deformation Sequence 1	Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis	OMIM:208150
Degcags Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Synophrys, Long eyelashes, Ptosis	OMIM:619488
Leopard Syndrome 1	Epicanthus, Ptosis	OMIM:151100
Cardiospondylocarpofacial Syndrome	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:157800
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis	OMIM:309580
Monosomy 13Q14	Epicanthus, Ptosis	ORPHA:1587
Thrombocytopenia-Absent Radius Syndrome	Ptosis	OMIM:274000
Cohen-Gibson Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:617561
Cornelia De Lange Syndrome	Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Blepharitis, Thick eyebrow, Pt...	ORPHA:199
Aicardi-Goutières Syndrome	Eyelid coloboma, Ptosis	ORPHA:51
Meckel Syndrome, Type 1	Epicanthus inversus, Ptosis	OMIM:249000
Glycogen Storage Disease Due To Acid Maltase Deficiency	Ptosis	ORPHA:365
Kawasaki Disease	Conjunctivitis, Ptosis	ORPHA:2331
Diamond-Blackfan Anemia	Epicanthus, Ptosis	ORPHA:124
Joubert Syndrome 5	Ptosis	OMIM:610188
Branchiooculofacial Syndrome	Telecanthus, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Ptosis	OMIM:113620
Microphthalmia, Syndromic 2	Blepharophimosis, Laterally curved eyebrow, Thick eyebrow, Ptosis	OMIM:300166
Tsh-Secreting Pituitary Adenoma	Ptosis	ORPHA:91347
Pearson Syndrome	Ptosis	ORPHA:699
Coffin-Siris Syndrome 1	Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Ptosis	OMIM:135900
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Trichiasis, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpebral fissures,...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Trichiasis, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpebral fissures,...	ORPHA:353277
Noonan Syndrome 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:163950
Turner Syndrome Due To Structural X Chromosome Anomalies	Epicanthus, Neck pterygia, Ptosis	ORPHA:99413
Mosaic Monosomy X	Epicanthus, Neck pterygia, Ptosis	ORPHA:99228
Monosomy X	Epicanthus, Neck pterygia, Ptosis	ORPHA:99226
Turner Syndrome	Epicanthus, Neck pterygia, Ptosis	ORPHA:881
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:194190
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis	OMIM:124000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis	OMIM:161700
Okamoto Syndrome	Long palpebral fissure, Ptosis	ORPHA:2729
Saethre-Chotzen Syndrome	Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits	OMIM:101400
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Optic atrophy, Broad eyebr...	ORPHA:261552
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ptosis	OMIM:618748
Charge Syndrome	Downslanted palpebral fissures, Facial palsy, Ptosis	OMIM:214800
Autosomal Dominant Cutis Laxa	Ptosis	ORPHA:90348
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Aganglionic megacolon, Broad eyebrow, Ptosis	ORPHA:261537
Proteus Syndrome	Retinal hamartoma, Downslanted palpebral fissures, Ptosis	ORPHA:744
Microphthalmia, Syndromic 1	Optic disc coloboma, Aganglionic megacolon, Ptosis	OMIM:309800
Trichorhinophalangeal Syndrome, Type Ii	Thick eyebrow, Ptosis	OMIM:150230
Peters-Plus Syndrome	Upslanted palpebral fissure, Narrow palpebral fissure, Ptosis	OMIM:261540
Pallister-Hall Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:672
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Aplasia/Hypoplas...	ORPHA:286
Viss Syndrome	Long palpebral fissure, Ectropion, Ptosis	OMIM:619472
Primrose Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:259050
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Upslanted palpebral fissure, Ptosis	OMIM:601803
Craniofacial Microsomia 1	Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis	OMIM:164210
Singleton-Merten Syndrome 1	Ptosis	OMIM:182250

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 Artn

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 Artn.

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

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele	Allele Type	Produced
Artn^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	ES Cells
Artn^{tm1(KOMP)Vlcg}	Reporter-tagged deletion allele (with selection cassette)	ES Cells
Artn^{tm372558(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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