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
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Myasthenic Syndrome, Congenital, 8
Facial palsy, Ptosis OMIM:615120
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
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Facial palsy, Ptosis OMIM:617732
Deafness, X-Linked 7
Thick eyebrow, Telecanthus, Ptosis OMIM:301018
Oculopharyngeal Muscular Dystrophy
Facial palsy, Progressive ptosis OMIM:164300
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Ptosis OMIM:253320
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Dysautonomia-Like Disorder
Abnormal autonomic nervous system physiology OMIM:224000
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ptosis OMIM:609283
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Abnormal cranial nerve morphology, Thick eyebrow, Ptosis, Highly arched eyebrow, Synophrys, Bleph... ORPHA:2057
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Aganglionic megacolon, Ptosis, Downslanted palpebral fissures, Narrow palpebral fissure, Epicanthus OMIM:613603
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Optic atrophy OMIM:300928
Waardenburg Syndrome Type 2
Telecanthus, Aganglionic megacolon, Ptosis ORPHA:895
2p15-16.1 microdeletion syndrome
Downslanted palpebral fissures, Telecanthus, Ptosis DECIPHER:70
Fazio-Londe Disease
Facial diplegia, Ptosis OMIM:211500
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616325
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Myasthenic Syndrome, Congenital, 12
Facial palsy, Ptosis OMIM:610542
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Facial palsy, Ptosis OMIM:616324
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Facial palsy, Ptosis OMIM:617069
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616326
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Superior rectus atrophy, Ptosis, Facial palsy, Levator palpebrae superioris atrophy, Congenital f... OMIM:600638
Hirschsprung Disease, Susceptibility To, 2
Aganglionic megacolon OMIM:600155
Hirschsprung Disease, Susceptibility To, 5
Aganglionic megacolon OMIM:600156
Hirschsprung Disease, Susceptibility To, 3
Aganglionic megacolon OMIM:613711
Hirschsprung Disease, Susceptibility To, 4
Aganglionic megacolon OMIM:613712
Myasthenic Syndrome, Congenital, 10
Facial palsy, Ptosis OMIM:254300
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ptosis OMIM:616322
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ptosis OMIM:243180
Amyotrophy, Hereditary Neuralgic
Upslanted palpebral fissure, Ptosis, Epicanthus, Blepharophimosis, Brachial plexus neuropathy OMIM:162100
Myasthenic Syndrome, Congenital, 21, Presynaptic
Facial palsy, Ptosis OMIM:617239
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Abnormal lacrimal duct morphology, Ptosis, Synophrys, Epicanthus, Blepharophimosis ORPHA:126
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Ptosis OMIM:616313
Sclerosteosis
Facial palsy, Optic atrophy, Ptosis ORPHA:3152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Facial palsy, Ptosis OMIM:615156
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Facial palsy, Frontalis muscle weakness, Ptosis OMIM:300580
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Myasthenic Syndrome, Congenital, 19
Facial palsy, Ptosis OMIM:616720
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ptosis ORPHA:2743
Orthostatic Hypotension 1
Orthostatic hypotension, Ptosis OMIM:223360
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Parkinsonism-Dystonia 2, Infantile-Onset
Abnormal autonomic nervous system physiology, Ptosis OMIM:618049
Hirschsprung Disease, Susceptibility To, 1
Aganglionic megacolon, Abnormality of enteric ganglion morphology OMIM:142623
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Facial palsy, Decreased motor nerve conduction velocity, Ptosis OMIM:607684
Hypertrichosis Cubiti
Thick eyebrow, Abnormal eyelash morphology, Ptosis, Downslanted palpebral fissures, Abnormal eyel... ORPHA:2220
Riboflavin Transporter Deficiency
Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, Ptosis, Optic di... ORPHA:97229
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Yoon-Bellen Neurodevelopmental Syndrome
Downslanted palpebral fissures, Bilateral ptosis, Optic atrophy OMIM:619701
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Optic atrophy ORPHA:329314
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Ptosis, Synophrys, Blepharophimosis, Frontalis muscle weakness OMIM:210745
Myopathy, Centronuclear, 1
Facial palsy, Ptosis OMIM:160150
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Paucity of anterior horn motor neurons, Downslanted palpebral fissures, Abnormal anterior... OMIM:611890
Spinal Muscular Atrophy, X-Linked 2
Facial palsy, Degeneration of anterior horn cells, Ptosis OMIM:301830
Joubert Syndrome 36
Ptosis, Highly arched eyebrow OMIM:618763
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Downslanted palpebral fissures, Optic disc pallor, Ptosis, Long eyelashes OMIM:617523
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Ptosis OMIM:606242
Ring Chromosome 1 Syndrome
Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:1437
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Ptosis OMIM:616681
Mungan Syndrome
Bilateral ptosis, Abnormality of the autonomic nervous system OMIM:611376
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Ptosis OMIM:608930
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Abnormal auditory evoked potentials, Optic atrophy, Ptosis OMIM:125250
Facial Paresis, Hereditary Congenital, 3
Epicanthus, Facial palsy, Ptosis OMIM:614744
Intellectual Developmental Disorder, Autosomal Dominant 30
Ptosis OMIM:616083
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Bilateral ptosis, Optic atrophy OMIM:214980
Salih Myopathy
Facial palsy, Ptosis OMIM:611705
Coffin-Siris Syndrome 8
Thick eyebrow, Ptosis, Long eyelashes OMIM:618362
Goldberg-Shprintzen Megacolon Syndrome
Sparse eyebrow, Aganglionic megacolon, Ptosis ORPHA:66629
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Ptosis, Highly arched eyebrow OMIM:615476
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Ptosis OMIM:618238
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Ptosis ORPHA:171706
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Ptosis, Downslanted palpebral fissures, Epicanthus, Blepharophimosis OMIM:614230
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
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
Intellectual Developmental Disorder, Autosomal Dominant 29
Downslanted palpebral fissures, Ptosis, Synophrys OMIM:616078
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ptosis OMIM:615911
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Blepharophimosis, Ptosis, Epicanthus, Telecanthus OMIM:277720
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:608931
Waardenburg Syndrome Type 1
White eyebrow, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyelashes, Synophrys, Telecanthus ORPHA:894
Char Syndrome
Thick eyebrow, Ptosis, Highly arched eyebrow OMIM:169100
Intellectual Developmental Disorder, Autosomal Dominant 26
Upslanted palpebral fissure, Short palpebral fissure, Thick eyebrow, Ptosis, Highly arched eyebro... OMIM:615834
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Intellectual Developmental Disorder, Autosomal Dominant 57
Upslanted palpebral fissure, Blepharophimosis, Ptosis, Epicanthus, Telecanthus OMIM:618050
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibro... OMIM:135700
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Thick eyebrow, Sparse eyebrow, Ptosis, Epicanthus, Telecanthus OMIM:617268
Myopathy, Congenital, Bailey-Bloch
Short palpebral fissure, Blepharophimosis, Ptosis, Downslanted palpebral fissures, Telecanthus OMIM:255995
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Bilateral ptosis, Optic atrophy ORPHA:330050
Cluster Headache, Familial
Ptosis OMIM:119915
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Ptosis, Highly arched eyebrow OMIM:616154
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Ptosis, Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduction ... OMIM:118301
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ptosis OMIM:618226
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy, Ptosis OMIM:613559
Ascher Syndrome
Upper eyelid edema, Blepharophimosis, Abnormal eyelid morphology, Ptosis ORPHA:1253
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Myasthenic Syndrome, Congenital, 16
Ptosis OMIM:614198
Fatty Acyl-Coa Reductase 1 Deficiency
Ptosis, Highly arched eyebrow ORPHA:438178
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:618736
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Optic atrophy, Ptosis OMIM:618164
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Blepharophimosis, Ptosis OMIM:606772
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Ptosis, Long eyelashes OMIM:619076
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Ptosis OMIM:619422
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Ptosis ORPHA:401768
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Autosomal Dominant Spastic Ataxia Type 1
Abnormal eyelid morphology, Ptosis ORPHA:251282
Joubert Syndrome 26
Ptosis OMIM:616784
Borjeson-Forssman-Lehmann Syndrome
Narrow palpebral fissure, Blepharophimosis, Ptosis OMIM:301900
Cornelia De Lange Syndrome 2
Long eyelashes, Thick eyebrow, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Syn... OMIM:300590
Rare Non-Syndromic Intellectual Disability
Ptosis ORPHA:101685
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Thick eyebrow, Ptosis ORPHA:444002
Leigh Syndrome With Leukodystrophy
Optic atrophy, Ptosis ORPHA:255241
Shashi-Pena Syndrome
Ptosis, Highly arched eyebrow OMIM:617190
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Downslanted palpebral fissures, Unilateral narrow palpebral fissure, Ptosis ORPHA:3038
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Ptosis OMIM:251900
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis ORPHA:1875
Warburg Micro Syndrome 1
Optic atrophy, Ptosis OMIM:600118
Frontoocular Syndrome
Upslanted palpebral fissure, Short palpebral fissure, Ptosis, Epicanthus, Blepharophimosis OMIM:605321
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis, Synophrys ORPHA:1390
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ptosis OMIM:615084
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Autosomal Dominant Optic Atrophy Plus Syndrome
Bilateral ptosis, Absent brainstem auditory responses, Temporal optic disc pallor, Optic atrophy ORPHA:1215
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ptosis OMIM:252011
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Legius Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:611431
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis OMIM:618637
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Ptosis, Decreased nerve conduction velocity ORPHA:1933
Proximal Xq28 Duplication Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:1762
Proteus Syndrome
Downslanted palpebral fissures, Limbal dermoid, Ptosis OMIM:176920
Goldberg-Shprintzen Syndrome
Thick eyebrow, Aganglionic megacolon, Ptosis, Highly arched eyebrow, Downslanted palpebral fissur... OMIM:609460
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Ptosis OMIM:120433
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Congenital Ptosis
Congenital bilateral ptosis, Unilateral ptosis, Unilateral narrow palpebral fissure, Long eyelash... ORPHA:91411
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Ptosis OMIM:617664
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Absent eyelashes, Thick eyebrow, Ptosis, Highly arched eyebrow, Telecanthus ORPHA:228396
Autosomal Recessive Progressive External Ophthalmoplegia
Facial palsy, Optic atrophy, Ptosis ORPHA:254886
Au-Kline Syndrome
Downslanted palpebral fissures, Long palpebral fissure, Ptosis, Sparse lateral eyebrow OMIM:616580
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ptosis ORPHA:52503
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Facial diplegia, Ptosis, Decreased sensory nerve condu... OMIM:218000
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis OMIM:619527
Cardiofaciocutaneous Syndrome 4
Optic nerve hypoplasia, Ptosis, Absent eyebrow, Sparse eyelashes, Epicanthus, Telecanthus OMIM:615280
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis OMIM:615895
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis ORPHA:1825
Purpura Simplex
Ptosis OMIM:179000
Myopathy, Centronuclear, 2
Facial palsy, Ptosis OMIM:255200
Waardenburg Syndrome
Aganglionic megacolon, Ptosis, Synophrys, Telecanthus, Abnormal eyebrow morphology ORPHA:3440
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis ORPHA:44
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Blepharophimosis, Ptosis ORPHA:397973
Li-Campeau Syndrome
Downslanted palpebral fissures, Thick eyebrow, Telecanthus, Ptosis OMIM:619189
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Myopathy, Congenital, With Fiber-Type Disproportion
Facial palsy, Ptosis OMIM:255310
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Hypotonia-Cystinuria Syndrome
Facial palsy, Ptosis, Long eyelashes OMIM:606407
Chromosome 16P13.3 Duplication Syndrome
Upslanted palpebral fissure, Ptosis OMIM:613458
Baraitser-Winter Syndrome 2
Telecanthus, Long palpebral fissure, Ptosis, Highly arched eyebrow OMIM:614583
Chromosome 3Pter-P25 Deletion Syndrome
Upslanted palpebral fissure, Ptosis, Highly arched eyebrow, Synophrys, Epicanthus, Blepharophimosis OMIM:613792
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis ORPHA:93262
Trisomy 5P
Ptosis ORPHA:1742
Fibrosis Of Extraocular Muscles, Congenital, 2
Bilateral ptosis, Congenital fibrosis of extraocular muscles OMIM:602078
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Optic atrophy, Ptosis ORPHA:1185
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Downslanted palpebral fissures, Blepharophimosis, Ptosis OMIM:617333
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Ptosis ORPHA:363429
Non-Distal Monosomy 10Q
Epicanthus, Upslanted palpebral fissure, Ptosis, Synophrys ORPHA:1581
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis OMIM:601462
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Ptosis OMIM:614175
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis OMIM:610743
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Ptosis OMIM:201050
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Ptosis ORPHA:521411
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Ptosis OMIM:126190
Craniosynostosis 3
Ptosis OMIM:615314
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Ptosis, Highly arched eyebrow ORPHA:457365
Crouzon Syndrome
Conjunctivitis, Optic atrophy, Ptosis ORPHA:207
Neuropathy, Congenital Hypomyelinating, 3
Epicanthus, Facial diplegia, Ptosis OMIM:618186
Hartsfield Syndrome
Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:2117
Myopathy, Proximal, With Ophthalmoplegia
Ptosis OMIM:605637
Leigh Syndrome
Optic atrophy, Ptosis OMIM:256000
Mosaic Trisomy 14
Blepharophimosis, Ptosis ORPHA:1703
Mcdonough Syndrome
Short palpebral fissure, Ptosis, Synophrys ORPHA:2471
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ptosis OMIM:146500
Intellectual Developmental Disorder, Autosomal Dominant 23
Downslanted palpebral fissures, Upslanted palpebral fissure, Ptosis, Synophrys OMIM:615761
Myasthenia Gravis
Facial palsy, Ptosis OMIM:254200
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis OMIM:618225
Terminal Osseous Dysplasia
Epicanthus, Telecanthus, Ptosis OMIM:300244
Marcus-Gunn Syndrome
Unilateral ptosis, Abnormal fifth cranial nerve morphology ORPHA:91412
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Meier-Gorlin Syndrome 8
Ptosis OMIM:617564
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Ptosis ORPHA:275872
Intellectual Developmental Disorder, Autosomal Recessive 65
Downslanted palpebral fissures, Ptosis OMIM:618109
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Ptosis OMIM:615668
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Facial palsy, Downslanted palpebral fissures, Ptosis OMIM:254940
Blepharophimosis-Impaired Intellectual Development Syndrome
Long eyelashes, Thick eyebrow, Sparse eyebrow, Ptosis, Highly arched eyebrow, Sparse eyelashes, N... OMIM:619293
Mental Retardation, Buenos Aires Type
Downslanted palpebral fissures, Long eyelashes, Ptosis, Curly eyelashes OMIM:249630
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Cornelia De Lange Syndrome 5
Long eyelashes, Ptosis, Highly arched eyebrow, Synophrys, Telecanthus OMIM:300882
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Facial palsy, Optic atrophy, Ptosis OMIM:258450
Machado-Joseph Disease
Abnormal autonomic nervous system physiology, Ptosis OMIM:109150
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Adult Intestinal Botulism
Ptosis ORPHA:178487
Minicore Myopathy With External Ophthalmoplegia
Facial palsy, Ptosis OMIM:255320
Congenital Myasthenic Syndromes With Glycosylation Defect
Facial palsy, Ptosis ORPHA:353327
Childhood-Onset Nemaline Myopathy
Facial diplegia, Ptosis ORPHA:171439
Distal Trisomy 15Q
Downslanted palpebral fissures, Blepharophimosis, Ptosis ORPHA:1707
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Juberg-Hayward Syndrome
Ptosis, Highly arched eyebrow OMIM:216100
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Ptosis, Highly arched eyebrow ORPHA:2318
Frontofacionasal Dysplasia
Absent inner eyelashes, Blepharophimosis, Aplasia/Hypoplasia of the eyebrow, Ptosis, Limbal dermo... ORPHA:1791
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
Coffin-Siris Syndrome 5
Thick eyebrow, Ptosis, Long eyelashes OMIM:616938
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Bilateral facial palsy ORPHA:254361
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Ptosis, Highly arched eyebrow ORPHA:220497
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Synophrys, Ptosis, Highly arched eyebrow OMIM:617062
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:3236
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis OMIM:616592
Combined Oxidative Phosphorylation Deficiency 24
Facial palsy, Optic atrophy, Ptosis OMIM:616239
Chromosome 2P16.1-P15 Deletion Syndrome
Short palpebral fissure, Blepharophimosis, Optic nerve hypoplasia, Ptosis, Downslanted palpebral ... OMIM:612513
Congenital Myopathy With Myasthenic-Like Onset
Ptosis ORPHA:424107
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Ptosis, Cranial nerve motor loss OMIM:211530
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Ptosis, Decrea... ORPHA:298
Rhyns Syndrome
Ptosis ORPHA:140976
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Joubert Syndrome
Aganglionic megacolon, Ptosis, Highly arched eyebrow ORPHA:475
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Joubert Syndrome 8
Optic disc pallor, Ptosis OMIM:612291
Dermoodontodysplasia
Abnormal eyelid morphology, Ptosis ORPHA:1660
Rere-Related Neurodevelopmental Syndrome
Ptosis, Broad eyebrow, Epicanthus, Blepharophimosis, Optic atrophy ORPHA:494344
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Joubert Syndrome 35
Telecanthus, Synophrys, Ptosis, Highly arched eyebrow OMIM:618161
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Upslanted palpebral fissure, Short palpebral fissure, Ptosis OMIM:617360
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Cataract, Aberrant Oral Frenula, And Growth Retardation
Upslanted palpebral fissure, Short palpebral fissure, Ptosis, Epicanthus, Blepharophimosis OMIM:115645
Tetrasomy 12P
Upslanted palpebral fissure, Telecanthus, Sparse eyebrow, Ptosis ORPHA:884
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ptosis OMIM:614261
Widow'S Peak Syndrome
Ptosis OMIM:314570
Schuurs-Hoeijmakers Syndrome
Long eyelashes, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Synophrys OMIM:615009
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Ptosis OMIM:609037
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
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Hengel-Maroofian-Schols Syndrome
Epicanthus, Thick eyebrow, Ptosis, Synophrys OMIM:619641
Cardiofaciocutaneous Syndrome 2
Ptosis, Absent eyebrow OMIM:615278
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Ptosis OMIM:616828
Arthrogryposis, Distal, Type 5
Epicanthus, Blepharophimosis, Ptosis OMIM:108145
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Intellectual Developmental Disorder, Autosomal Dominant 34
Epicanthus, Upslanted palpebral fissure, Bilateral ptosis, Synophrys OMIM:616351
Macrocephaly And Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis OMIM:606369
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Postsynaptic Congenital Myasthenic Syndromes
Facial palsy, Ptosis ORPHA:98913
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Ptosis OMIM:615433
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Ptosis, Synophrys, Epicanthus, Blepharophimosis OMIM:618792
Oculopharyngodistal Myopathy 3
Ptosis OMIM:619473
Non-Specific Early-Onset Epileptic Encephalopathy
Downslanted palpebral fissures, Optic atrophy, Ptosis ORPHA:442835
Fetal Trimethadione Syndrome
Epicanthus, Ptosis, Synophrys ORPHA:1913
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Ptosis, Highly arched eyebrow ORPHA:220493
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Myopathy, Congenital, Progressive, With Scoliosis
Ptosis OMIM:618578
Joubert Syndrome 14
Epicanthus, Downslanted palpebral fissures, Ptosis, Highly arched eyebrow OMIM:614424
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:2053
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis OMIM:619566
Autosomal Dominant Optic Atrophy, Classic Form
Temporal optic disc pallor, Optic atrophy, Ptosis ORPHA:98673
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Ptosis ORPHA:137898
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Upslanted palpebral fissure, Epicanthus inversus, Ptosis, Highly arched eyebrow ORPHA:2988
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Optic atrophy, Ptosis, Lacrimal duct stenosis ORPHA:457193
Myopathy With Extrapyramidal Signs
Epicanthus, Optic atrophy, Ptosis OMIM:615673
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Epicanthus, Upslanted palpebral fissure, Ptosis OMIM:613627
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Ptosis OMIM:615663
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616449
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis OMIM:618155
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Downslanted palpebral fissures, Blepharophimosis, Ptosis ORPHA:391372
Combined Oxidative Phosphorylation Deficiency 47
Ptosis OMIM:618958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ptosis OMIM:616479
4Q21 Microdeletion Syndrome
Synophrys, Ptosis, Long eyelashes ORPHA:238750
Joubert Syndrome 3
Epicanthus, Ptosis, Highly arched eyebrow OMIM:608629
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1778
Combined Oxidative Phosphorylation Deficiency 12
Ptosis OMIM:614924
Mcdonough Syndrome
Upslanted palpebral fissure, Ptosis, Synophrys OMIM:248950
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis OMIM:618198
Wieacker-Wolff Syndrome
Facial palsy, Ptosis, Upslanted palpebral fissure OMIM:314580
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:618659
Isolated Congenital Alacrima
Lacrimal punctal atresia, Ptosis, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
2P15P16.1 Microdeletion Syndrome
Long eyelashes, Blepharophimosis, Telecanthus, Optic nerve hypoplasia, Sparse eyebrow, Ptosis, Do... ORPHA:261349
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Baraitser-Winter Cerebrofrontofacial Syndrome
Euryblepharon, Palpebral edema, Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Lo... ORPHA:2995
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ptosis OMIM:300352
King-Denborough Syndrome
Downslanted palpebral fissures, Bilateral ptosis, Ptosis OMIM:619542
Wagr Syndrome
Ptosis ORPHA:893
Acromelic Frontonasal Dysostosis
Downslanted palpebral fissures, Telecanthus, Ptosis OMIM:603671
Ohdo Syndrome
Epicanthus, Blepharophimosis, Sparse eyebrow, Ptosis OMIM:249620
Combined Oxidative Phosphorylation Deficiency 33
Ptosis OMIM:617713
Wolfram Syndrome 1
Optic atrophy, Ptosis OMIM:222300
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Takenouchi-Kosaki Syndrome
Upslanted palpebral fissure, Sparse eyebrow, Ptosis, Highly arched eyebrow, Downslanted palpebral... OMIM:616737
Bachmann-Bupp Syndrome
Ptosis, Absent eyebrow, Downslanted palpebral fissures, Sparse eyelashes, Blepharophimosis OMIM:619075
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Ptosis OMIM:612073
Distal Trisomy 6P
Blepharophimosis, Abnormal eyelash morphology, Ptosis ORPHA:1745
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616801
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis OMIM:617468
Muenke Syndrome
Downslanted palpebral fissures, Ptosis OMIM:602849
Acrofrontofacionasal Dysostosis
Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis, Eyelid coloboma ORPHA:1784
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis ORPHA:2617
Frontonasal Dysplasia 1
Epicanthus, Ptosis OMIM:136760
Arthrogryposis, Distal, Type 2A
Blepharophimosis, Ptosis, Abnormal auditory evoked potentials, Epicanthus, Telecanthus OMIM:193700
Aarskog-Scott Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:915
Autosomal Recessive Dopa-Responsive Dystonia
Ptosis ORPHA:101150
Noonan Syndrome 9
Downslanted palpebral fissures, Sparse eyebrow, Ptosis OMIM:616559
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Ptosis ORPHA:168549
Inclusion Body Myopathy And Brain White Matter Abnormalities
Ptosis OMIM:619733
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Downslanted palpebral fissures, Sparse eyebrow, Ptosis, Lacrimal duct stenosis ORPHA:73246
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Ptosis ORPHA:254930
Noonan Syndrome 5
Epicanthus, Downslanted palpebral fissures, Sparse eyebrow, Ptosis OMIM:611553
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Ptosis OMIM:610131
Coach Syndrome 3
Ptosis OMIM:619113
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Abnormal lacrimal duct morphology, Lacrimal gland hypoplasia, S-shaped palpebral fissures, Thick ... ORPHA:572333
Agel Amyloidosis
Blepharochalasis, Bilateral ptosis, Keratoconjunctivitis sicca, Facial palsy, Orthostatic hypoten... ORPHA:85448
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Acrofrontofacionasal Dysostosis 1
Long eyebrows, S-shaped palpebral fissures, Long eyelashes, Ptosis, Optic atrophy OMIM:201180
Richieri-Costa/Guion-Almeida Syndrome
Downslanted palpebral fissures, Ptosis, Eyelid coloboma OMIM:268850
Mesomelia-Synostoses Syndrome
Downslanted palpebral fissures, Telecanthus, Abnormal eyebrow morphology, Ptosis ORPHA:2496
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Noonan Syndrome 13
Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Broad eyebrow, Almond-shaped palpe... OMIM:619087
Wieacker-Wolff Syndrome, Female-Restricted
Facial palsy, Ptosis OMIM:301041
Joubert Syndrome 30
Ptosis OMIM:617622
Baraitser-Winter Syndrome 1
Epicanthus, Long palpebral fissure, Ptosis, Highly arched eyebrow OMIM:243310
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Ptosis, Highly arched eyebrow ORPHA:2319
Carey-Fineman-Ziter Syndrome
Epicanthus, Facial palsy, Downslanted palpebral fissures, Ptosis ORPHA:1358
Ohdo Syndrome, X-Linked
Blepharophimosis, Ptosis OMIM:300895
Typical Nemaline Myopathy
Facial palsy, Facial diplegia, Ptosis ORPHA:171436
Nager Syndrome
Aplasia/Hypoplasia of the eyebrow, Lower eyelid coloboma, Ptosis, Downslanted palpebral fissures,... ORPHA:245
Weiss-Kruszka Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis, Highly arched eyebrow OMIM:618619
Leukodystrophy, Hypomyelinating, 20
Ptosis OMIM:619071
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis ORPHA:2511
Orofaciodigital Syndrome V
Unilateral ptosis, Downslanted palpebral fissures, Optic disc coloboma, Aganglionic megacolon OMIM:174300
Glycine Encephalopathy With Normal Serum Glycine
Optic atrophy, Ptosis, Long eyelashes OMIM:617301
Noonan Syndrome 8
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:615355
Buratti-Harel Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis, Sparse medial eyebrow OMIM:619314
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Long eyelashes, Thick eyebrow, Downslanted palpebral fissures, Bilateral ptosis, Long palpebral f... ORPHA:324540
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Spinocerebellar Ataxia 47
Ptosis OMIM:617931
Congenital Multicore Myopathy With External Ophthalmoplegia
Facial palsy, Facial diplegia, Ptosis ORPHA:98905
Helsmoortel-Van Der Aa Syndrome
Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis, Eyelid coloboma OMIM:615873
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis OMIM:618731
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Upslanted palpebral fissure, Thick eyebrow, Ptosis, Downslanted palpebral fissures, Synophrys, Ep... OMIM:617061
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Upslanted palpebral fissure, Ptosis, Horizontal eyebrow ORPHA:369891
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyebrow, Ptosis, Long palpebral fissure, Sparse eyelashes, Blepha... OMIM:613026
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Epicanthus, Optic atrophy, Ptosis OMIM:220500
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis OMIM:613561
X-Linked Mandibulofacial Dysostosis
Epicanthus, Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures, Ptosis ORPHA:1131
Proboscis Lateralis
Orbital cyst, Unilateral narrow palpebral fissure, Optic nerve hypoplasia, Nasolacrimal duct obst... ORPHA:141099
Spinocerebellar Ataxia With Dysmorphism
Ptosis OMIM:271270
Fountain Syndrome
Epicanthus, Thick eyebrow, Ptosis, Synophrys ORPHA:3219
Noonan Syndrome 4
Sparse eyebrow, Ptosis, Downslanted palpebral fissures, Bilateral ptosis, Epicanthus OMIM:610733
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Spastic Ataxia 5, Autosomal Recessive
Ptosis OMIM:614487
Intellectual Developmental Disorder, Autosomal Dominant 35
Downslanted palpebral fissures, Ptosis OMIM:616355
Thymic Tumor
Palpebral edema, Ptosis ORPHA:100100
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ptosis ORPHA:352447
Borjeson-Forssman-Lehmann Syndrome
Thick eyebrow, Blepharophimosis, Ptosis ORPHA:127
Alacrima, Achalasia, And Mental Retardation Syndrome
Orthostatic hypotension, Ptosis OMIM:615510
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Broad lateral eyebrow, Ptosis OMIM:608624
Kaufman Oculocerebrofacial Syndrome
Upslanted palpebral fissure, Blepharophimosis, Sparse eyebrow, Ptosis, Optic disc pallor, Epicant... OMIM:244450
Monosomy 18P
Epicanthus, Ptosis ORPHA:1598
Rubinstein-Taybi Syndrome
Nasolacrimal duct obstruction, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Epi... ORPHA:783
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis OMIM:615351
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis OMIM:616549
Autosomal Recessive Multiple Pterygium Syndrome
Popliteal pterygium, Pterygium, Ptosis, Antecubital pterygium, Downslanted palpebral fissures, Mu... ORPHA:2990
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Ptosis OMIM:220110
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Coach Syndrome 1
Optic disc pallor, Ptosis OMIM:216360
Pontine Tegmental Cap Dysplasia
Facial palsy, Ptosis OMIM:614688
Craniosynostosis 6
Ptosis OMIM:616602
Joubert Syndrome 7
Ptosis OMIM:611560
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Facial palsy, Ptosis OMIM:607483
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Facial palsy, Ptosis OMIM:619424
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Aganglionic megacolon, Ptosis, Epicanthus, Optic disc coloboma ORPHA:959
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Ptosis ORPHA:436271
Dopamine Beta-Hydroxylase Deficiency
Bilateral ptosis, Orthostatic hypotension ORPHA:230
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis OMIM:618170
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis OMIM:212112
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ptosis ORPHA:313772
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Ptosis OMIM:247410
Blepharophimosis, Ptosis, And Epicanthus Inversus
Blepharophimosis, Telecanthus, Ptosis, Highly arched eyebrow, Epicanthus inversus OMIM:110100
Codas Syndrome
Epicanthus, Ptosis ORPHA:1458
Jacobsen Syndrome
Abnormal eyelash morphology, Nasolacrimal duct obstruction, Ptosis, Eyelid coloboma, Epicanthus, ... OMIM:147791
Short Stature And Facioauriculothoracic Malformations
Ptosis OMIM:609654
Bickerstaff Brainstem Encephalitis
Abnormality of the autonomic nervous system, Abnormal cranial nerve morphology, Ptosis, Decreased... ORPHA:79138
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Ptosis ORPHA:1915
Acrofrontofacionasal Dysostosis 2
Downslanted palpebral fissures, Ptosis OMIM:239710
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Downslanted palpebral fissures, Narrow palpebral fissure, Ptosis OMIM:619493
Beare-Stevenson Cutis Gyrata Syndrome
Downslanted palpebral fissures, Optic atrophy, Ptosis OMIM:123790
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies
Upslanted palpebral fissure, Epicanthus inversus, Ptosis OMIM:600159
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis ORPHA:70594
Cardiofaciocutaneous Syndrome
Aplasia/Hypoplasia of the eyebrow, Abnormal eyelash morphology, Ptosis, Downslanted palpebral fis... ORPHA:1340
22Q11.2 Duplication Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:1727
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Ptosis ORPHA:73272
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Ptosis OMIM:619046
3Mc Syndrome
Blepharophimosis, Telecanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures, Epi... ORPHA:293843
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Upslanted palpebral fissure, Short palpebral fissure, Ptosis OMIM:617159
20Q11.2 Microduplication Syndrome
Abnormal shape of the palpebral fissure, Palpebral edema, Ptosis, Downslanted palpebral fissures,... ORPHA:363659
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Downslanted palpebral fissures, Telecanthus, Ptosis, Sparse lateral eyebrow ORPHA:314655
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Downslanted palpebral fissures, Optic atrophy, Ptosis ORPHA:1555
Dystonia 34, Myoclonic
Ptosis OMIM:619724
Pde4D Haploinsufficiency Syndrome
Narrow palpebral fissure, Long palpebral fissure, Ptosis ORPHA:439822
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Optic atrophy, Ptosis ORPHA:99956
Myoclonus, Intractable, Neonatal
Ptosis OMIM:617235
Cardiofaciocutaneous Syndrome 1
Absent eyelashes, Optic nerve dysplasia, Ptosis, Absent eyebrow, Downslanted palpebral fissures, ... OMIM:115150
Fetal Hydantoin Syndrome
Epicanthus, Ptosis ORPHA:1912
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis OMIM:603387
Ververi-Brady Syndrome
Upslanted palpebral fissure, Ptosis OMIM:617982
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Joubert Syndrome 1
Ptosis, Highly arched eyebrow, Optic disc pallor, Epicanthus, Optic disc coloboma OMIM:213300
Schwartz-Jampel Syndrome, Type 1
Narrow palpebral fissure, Blepharophimosis, Long eyelashes in irregular rows, Ptosis OMIM:255800
Kniest-Like Dysplasia With Pursed Lips And Ectopia Lentis
Ptosis OMIM:245160
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Ptosis ORPHA:2522
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Ptosis OMIM:300845
Synaptic Congenital Myasthenic Syndromes
Bilateral ptosis, Facial palsy, Ptosis ORPHA:98915
Ruvalcaba Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:3121
Saethre-Chotzen Syndrome
Epicanthus, Blepharospasm, Optic atrophy, Ptosis ORPHA:794
2Q31.1 Microdeletion Syndrome
Short palpebral fissure, Ptosis, Downslanted palpebral fissures, Synophrys, Epicanthus, Optic dis... ORPHA:251014
Aase-Smith Syndrome I
Ptosis OMIM:147800
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Long palpebral fissure, Shallow orbits, Abnormal autonomic nervous system physiology, Ptosis ORPHA:453499
Lymphedema-Distichiasis Syndrome
Ectropion, Conjunctivitis, Ptosis, Distichiasis ORPHA:33001
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis OMIM:613077
Glycogen Storage Disease Xii
Epicanthus, Ptosis OMIM:611881
Joubert Syndrome 37
Ptosis OMIM:619185
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Marden-Walker Syndrome
Epicanthus, Blepharophimosis, Ptosis OMIM:248700
Frontofacionasal Dysplasia
Absent inner eyelashes, S-shaped palpebral fissures, Blepharophimosis, Ptosis, Eyelid coloboma, T... OMIM:229400
Birk-Landau-Perez Syndrome
Ptosis OMIM:617595
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Hooded eyelid, Long eyelashes, Thick eyebrow, Nasolacrimal duct obstruction, Ptosis, Highly arche... OMIM:610759
Char Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:46627
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Ptosis ORPHA:531151
Mucopolysaccharidosis, Type Ii
Ptosis, Papilledema OMIM:309900
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Upslanted palpebral fissure, Ptosis OMIM:300260
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Facial palsy, Ptosis OMIM:157640
Intestinal Botulism
Ptosis ORPHA:178481
Alexander Disease
Facial palsy, Abnormal autonomic nervous system physiology, Ptosis ORPHA:58
Coffin-Siris Syndrome 9
Short palpebral fissure, Long eyelashes, Ptosis, Highly arched eyebrow OMIM:615866
Toxin-Mediated Infectious Botulism
Ptosis ORPHA:230800
Cdags Syndrome
Sparse eyelashes, Ectropion, Sparse eyebrow, Ptosis OMIM:603116
Moebius Syndrome
Epicanthus, Facial palsy, Blepharitis, Ptosis ORPHA:570
Myopathy, Myofibrillar, 8
Ptosis OMIM:617258
Acrocraniofacial Dysostosis
Downslanted palpebral fissures, Telecanthus, Ptosis ORPHA:949
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Epicanthus, Ptosis OMIM:616723
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Popliteal pterygium, Neck pterygia, Ptosis, Antecubital pterygium, Downsla... OMIM:265000
Cenani-Lenz Syndrome
Downslanted palpebral fissures, Ectropion, Ptosis ORPHA:3258
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Ptosis ORPHA:2824
Isolated Complex I Deficiency
Optic neuropathy, Optic disc pallor, Ptosis ORPHA:2609
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Ptosis OMIM:609286
Refsum Disease, Classic
Ptosis OMIM:266500
Muenke Syndrome
Ptosis ORPHA:53271
Lymphedema-Distichiasis Syndrome
Conjunctivitis, Ptosis, Distichiasis OMIM:153400
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Upslanted palpebral fissure, Sparse eyebrow, Ptosis, Highly arched eyebrow, Downslanted palpebral... ORPHA:487796
Emanuel Syndrome
Upslanted palpebral fissure, Hooded eyelid, Ptosis ORPHA:96170
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Ptosis OMIM:617563
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Short palpebral fissure, Blepharophimosis, Ptosis OMIM:217980
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Downslanted palpebral fissures, Multiple pterygia, Ptosis OMIM:178110
Tukel Syndrome
Ptosis, Congenital fibrosis of extraocular muscles OMIM:609428
Scarf Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:3134
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Ptosis ORPHA:364028
Arthrogryposis, Distal, Type 1A
Ptosis OMIM:108120
Arachnoid Cyst
Facial palsy, Cranial nerve compression, Ptosis ORPHA:2356
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Pseudopapilledema, Ptosis OMIM:146255
Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome
Upslanted palpebral fissure, Long eyelashes, Thick eyebrow, Sparse eyebrow, Ptosis, Highly arched... OMIM:213980
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Ptosis ORPHA:2031
Arthrogryposis, Distal, Type 3
Epicanthus, Ptosis OMIM:114300
Rhyns Syndrome
Ptosis OMIM:602152
Koolen-De Vries Syndrome
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Ptosis ORPHA:96169
Phelan-Mcdermid Syndrome
Long eyelashes, Thick eyebrow, Palpebral edema, Ptosis, Epicanthus OMIM:606232
Arthrogryposis, Distal, Type 5D
Ptosis, Highly arched eyebrow OMIM:615065
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Upslanted palpebral fissure, Sparse lateral eyebrow, Lacrimal duct stenosis, Optic nerve hypoplas... OMIM:617506
Beck-Fahrner Syndrome