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Gene: Gfra3 MGI:1201403

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

glial cell line derived neurotrophic factor family receptor alpha 3

Synonyms:

GFRalpha3, GFR alpha-3

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 Gfra3 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 Gfra3 (0 diseases)
Human diseases predicted to be associated with Gfra3 (910 diseases)

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

The table below shows human diseases predicted to be associated to Gfra3 by phenotypic similarity.

Disease	Matching phenotypes	Source
Oculomotor-Levator Synkinesis	Ptosis, Eyelid retraction, Abnormal eyelid morphology	OMIM:151610
Ptosis, Hereditary Congenital 1	Congenital ptosis	OMIM:178300
Marcus Gunn Phenomenon	Unilateral ptosis, Congenital ptosis	OMIM:154600
22q11 duplication syndrome	Telecanthus	DECIPHER:32
Ptosis, Hereditary Congenital 2	Ptosis	OMIM:300245
Fibrosis Of Extraocular Muscles, Congenital, 5	Ptosis	OMIM:616219
Ptosis, Strabismus, And Ectopic Pupils	Ptosis	OMIM:178330
Vocal Cord Paralysis And Ptosis	Bilateral ptosis	OMIM:193240
Oculomotor-Abducens Synkinesis	Ptosis	OMIM:619215
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis	Congenital ptosis	OMIM:192800
Episodic Pain Syndrome, Familial, 3	Abnormal autonomic nervous system physiology	OMIM:615552
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis	OMIM:620086
Myasthenic Syndrome, Congenital, 17	Ptosis	OMIM:616304
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence	Ptosis	OMIM:609612
Cortical Dysplasia, Complex, With Other Brain Malformations 3	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:615411
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria	Ptosis, Abnormal cranial nerve morphology	OMIM:258470
Ptosis-Vocal Cord Paralysis Syndrome	Ptosis	ORPHA:2997
2p15-16.1 microdeletion syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	DECIPHER:70
Myasthenic Syndrome, Congenital, 15	Ptosis	OMIM:616227
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity	Periventricular nodular heterotopia, Optic atrophy	OMIM:618572
Myasthenic Syndrome, Congenital, 8	Ptosis	OMIM:615120
Oculopharyngeal Muscular Dystrophy 1	Ptosis, Facial palsy, Progressive ptosis	OMIM:164300
Lissencephaly 1	Subcortical band heterotopia, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:607432
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome	Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis	ORPHA:126
Orthostatic Intolerance	Orthostatic tachycardia	OMIM:604715
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction	Facial palsy, Ptosis	OMIM:617732
Myasthenic Syndrome, Congenital, 13	Ptosis	OMIM:614750
Dysautonomia-Like Disorder	Abnormal autonomic nervous system physiology	OMIM:224000
Myasthenic Syndrome, Congenital, 18	Ptosis	OMIM:616330
Nodular Neuronal Heterotopia	Abnormality of neuronal migration	ORPHA:2149
Visceral Neuropathy, Familial, 2, Autosomal Recessive	Short-segment aganglionic megacolon, Ptosis	OMIM:619465
Orbital Margin, Hypoplasia Of	Lacrimal duct atresia, Lower eyelid coloboma, Congenital extraocular muscle anomaly	OMIM:165600
Microlissencephaly	Subcortical heterotopia, Periventricular heterotopia, Simplified gyral pattern, Lissencephaly, Pa...	ORPHA:1083
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease	Unilateral ptosis, Unilateral narrow palpebral fissure	OMIM:182875
Isolated Lissencephaly Type 1 Without Known Genetic Defects	Gray matter heterotopia, Pachygyria, Agyria	ORPHA:1084
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement	Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Dysgyria	ORPHA:352682
Lissencephaly 3	Periventricular laminar heterotopia, Pachygyria, Gray matter heterotopia, Lissencephaly, Polymicr...	OMIM:611603
Sub-Cortical Nodular Heterotopia	Polymicrogyria, Subcortical heterotopia, Abnormality of neuronal migration	ORPHA:101029
Periventricular Heterotopia With Microcephaly, Autosomal Recessive	Periventricular nodular heterotopia, Periventricular heterotopia	OMIM:608097
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors	Congenital ptosis	OMIM:254190
Fibrosis Of Extraocular Muscles, Congenital, 3C	Congenital bilateral ptosis, Congenital fibrosis of extraocular muscles, Highly arched eyebrow	OMIM:609384
Lissencephaly, X-Linked, 1	Gray matter heterotopia, Pachygyria, Lissencephaly, Agyria	OMIM:300067
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
Aganglionosis, Total Intestinal	Total intestinal aganglionosis	OMIM:202550
Intellectual Developmental Disorder, X-Linked 101	Unilateral ptosis, Optic atrophy	OMIM:300928
Adult-onset autosomal dominant leukodystrophy (ADLD)	Abnormal autonomic nervous system physiology	DECIPHER:59
Trismus-Pseudocamptodactyly Syndrome	Ptosis	ORPHA:3377
Fazio-Londe Disease	Facial diplegia, Ptosis	OMIM:211500
Waardenburg Syndrome Type 2	Telecanthus, Aganglionic megacolon, Ptosis	ORPHA:895
Ophthalmoplegia Totalis With Ptosis And Miosis	Ptosis	OMIM:258400
Autism, Susceptibility To, X-Linked 6	Ptosis	OMIM:300872
Hiatt-Neu-Cooper Neurodevelopmental Syndrome	Epicanthus, Horizontal eyebrow, Ptosis	OMIM:619311
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations	Pachygyria, Simplified gyral pattern, Abnormality of neuronal migration, Gray matter heterotopia,...	OMIM:604317
Spinocerebellar Ataxia, Autosomal Recessive 8	Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis	OMIM:610743
Hypertrichosis Cubiti	Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,...	ORPHA:2220
Chudley-Mccullough Syndrome	Gray matter heterotopia, Polymicrogyria	OMIM:604213
Visceral Neuropathy, Familial, 1, Autosomal Recessive	Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ptosis	OMIM:243180
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures	Abnormality of neuronal migration	OMIM:618709
Blepharoptosis, Myopia, And Ectopia Lentis	Congenital ptosis	OMIM:110150
Lissencephaly 5	Gray matter heterotopia, Subcortical band heterotopia, Optic atrophy, Type II lissencephaly	OMIM:615191
Hemimegalencephaly	Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Abnormal neuron morphology	ORPHA:99802
Fibrosis Of Extraocular Muscles, Congenital, 1	Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph...	OMIM:135700
Spastic Ataxia 1, Autosomal Dominant	Ptosis	OMIM:108600
Joubert Syndrome 36	Highly arched eyebrow, Ptosis	OMIM:618763
Ring Chromosome 1 Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1437
Microcephaly 16, Primary, Autosomal Recessive	Telecanthus, Simplified gyral pattern, Ptosis	OMIM:616681
Amyotrophy, Hereditary Neuralgic	Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimosis, Ptosis	OMIM:162100
Myasthenic Syndrome, Congenital, 23, Presynaptic	Ptosis	OMIM:618197
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
Myasthenic Syndrome, Congenital, 12	Facial palsy, Ptosis	OMIM:610542
Hirschsprung Disease, Susceptibility To, 3	Total colonic aganglionosis, Aganglionic megacolon, Long-segment aganglionic megacolon	OMIM:613711
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome	Epicanthus, Ptosis	ORPHA:1373
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
Bilateral Striopallidodentate Calcinosis	Abnormality of neuronal migration	ORPHA:1980
Deafness, X-Linked 7	Telecanthus, Thick eyebrow, Ptosis	OMIM:301018
Mismatch Repair Cancer Syndrome 4	Gray matter heterotopia	OMIM:619101
Cluster Headache, Familial	Ptosis	OMIM:119915
Charcot-Marie-Tooth Disease, Axonal, Type 2E	Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia...	OMIM:607684
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Facial palsy, Ptosis	ORPHA:2743
Yoon-Bellen Neurodevelopmental Syndrome	Downslanted palpebral fissures, Bilateral ptosis, Optic atrophy	OMIM:619701
Leber Congenital Amaurosis	Abnormal optic disc morphology, Abnormality of neuronal migration	ORPHA:65
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism	Thick eyebrow, Ptosis	OMIM:606242
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Optic atrophy, Simplified gyral pattern, Periventricular heterotopia	OMIM:616171
Myasthenic Syndrome, Congenital, 16	Bilateral ptosis, Ptosis	OMIM:614198
Congenital Muscular Dystrophy Without Intellectual Disability	Gray matter heterotopia, Facial diplegia, Pachygyria	ORPHA:370980
Lissencephaly 6 With Microcephaly	Periventricular heterotopia, Pachygyria, Almond-shaped palpebral fissure, Synophrys, Simplified g...	OMIM:616212
Neonatal Adrenoleukodystrophy	Optic atrophy, Abnormality of neuronal migration, Ptosis	ORPHA:44
Goldberg-Shprintzen Megacolon Syndrome	Sparse eyebrow, Pachygyria, Aganglionic megacolon, Ptosis	ORPHA:66629
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
Purpura Simplex	Ptosis	OMIM:179000
Symmetrical Thalamic Calcifications	Abnormality of neuronal migration	ORPHA:1314
Ascher Syndrome	Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology	ORPHA:1253
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6	Pachygyria, Facial palsy, Abnormality of neuronal migration	OMIM:608840
Char Syndrome	Thick eyebrow, Highly arched eyebrow, Ptosis	OMIM:169100
Maternal Hyperthermia-Induced Birth Defects	Abnormality of neuronal migration	ORPHA:2216
Riboflavin Transporter Deficiency	Optic disc pallor, Facial palsy, Abnormal cranial nerve morphology, Abnormal autonomic nervous sy...	ORPHA:97229
Wernicke-Korsakoff Syndrome	Ptosis	OMIM:277730
Autosomal Recessive Primary Microcephaly	Upslanted palpebral fissure, Gray matter heterotopia, Pachygyria	ORPHA:2512
Ophthalmoplegia, Familial Total, With Iris Transillumination	Ptosis	OMIM:165098
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency	Bilateral ptosis, Optic atrophy	ORPHA:329314
Myasthenic Syndrome, Congenital, 3A, Slow-Channel	Ptosis	OMIM:616321
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome	Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	ORPHA:3038
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Blepharophimosis, Telecanthus, Ptosis	OMIM:606772
Spinal Muscular Atrophy, X-Linked 2	Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial...	OMIM:301830
Progressive Hemifacial Atrophy	Ptosis	ORPHA:1214
Band Heterotopia	Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria	OMIM:600348
Frias Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:609640
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement	Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis ...	OMIM:600638
Segawa Syndrome, Autosomal Recessive	Ptosis	OMIM:605407
3-Hydroxyisobutyric Aciduria	Abnormality of neuronal migration	OMIM:236795
Fibrosis Of Extraocular Muscles, Congenital, 2	Bilateral ptosis, Congenital fibrosis of extraocular muscles	OMIM:602078
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3	Ptosis	OMIM:617069
Blepharophimosis With Ptosis, Syndactyly, And Short Stature	Frontalis muscle weakness, Synophrys, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:210745
Arthrogryposis, Distal, Type 2B3	Downslanted palpebral fissures, Ptosis	OMIM:618436
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome	Ptosis	ORPHA:83619
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency	Ptosis	ORPHA:171706
Spinocerebellar Ataxia, Autosomal Recessive 32	Abnormal nerve conduction velocity, Ptosis	OMIM:619862
Arthrogryposis, Distal, Type 7	Ptosis	OMIM:158300
Parkinson Disease 4, Autosomal Dominant	Orthostatic hypotension, Abnormal autonomic nervous system physiology	OMIM:605543
Proximal Xq28 Duplication Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:1762
Tetrasomy 18P	Epicanthus, Downslanted palpebral fissures, Abnormality of neuronal migration	ORPHA:3307
Congenital Arthrogryposis With Anterior Horn Cell Disease	Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Facial diplegia, ...	OMIM:611890
Baraitser-Winter Syndrome 2	Telecanthus, Highly arched eyebrow, Lissencephaly, Long palpebral fissure, Pachygyria, Ptosis	OMIM:614583
Coffin-Siris Syndrome 8	Long eyelashes, Thick eyebrow, Ptosis	OMIM:618362
Ophthalmoplegia, Familial Static	Ptosis	OMIM:165000
Whistling Face Syndrome, Recessive Form	Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:277720
Ophthalmoplegia, External, And Myopia	Ptosis	OMIM:311000
Joubert Syndrome	Aganglionic megacolon, Highly arched eyebrow, Abnormality of neuronal migration, Polymicrogyria, ...	ORPHA:475
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Optic atrophy, Abnormal auditory evoked potentials, Ptosis	OMIM:125250
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome	Ptosis	ORPHA:2064
Li-Ghorbani-Weisz-Hubshman Syndrome	Epicanthus, Telecanthus, Periventricular heterotopia, Patent ductus arteriosus, Upslanted palpebr...	OMIM:618974
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome	Abnormal eyelash morphology, Optic atrophy, Abnormality of neuronal migration	ORPHA:2518
Polymicrogyria Due To Tubb2B Mutation	Perisylvian polymicrogyria, Gray matter heterotopia, Lissencephaly, Pachygyria, Polymicrogyria	ORPHA:300573
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder	Highly arched eyebrow, Ptosis	OMIM:616154
Warburg Micro Syndrome 1	Perisylvian polymicrogyria, Optic atrophy, Ptosis	OMIM:600118
Mitochondrial Complex I Deficiency, Nuclear Type 16	Optic atrophy, Ptosis	OMIM:618238
Oculopharyngeal Muscular Dystrophy	Ptosis	ORPHA:270
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Downslanted palpeb...	OMIM:615834
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis	ORPHA:228396
Short Tarsus With Absence Of Lower Eyelashes	Absent lower eyelashes, Hypoplasia of the lower eyelids	OMIM:600269
Deafness, Conductive, With Ptosis And Skeletal Anomalies	Ptosis	OMIM:221320
Joubert Syndrome With Oculorenal Defect	Aganglionic megacolon, Abnormality of neuronal migration, Highly arched eyebrow, Ptosis	ORPHA:2318
Myasthenic Syndrome, Congenital, 1B, Fast-Channel	Facial palsy, Ptosis	OMIM:608930
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency	Ptosis	OMIM:616326
Oculopharyngeal Myopathy With Leukoencephalopathy 1	Ptosis	OMIM:618637
Oculopharyngodistal Myopathy 2	Ptosis	OMIM:618940
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations	Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis...	OMIM:617523
Fatty Acyl-Coa Reductase 1 Deficiency	Highly arched eyebrow, Ptosis	ORPHA:438178
Myoclonus, Intractable, Neonatal	Optic disc pallor, Ptosis	OMIM:617235
Iatrogenic Botulism	Orthostatic hypotension, Ptosis	ORPHA:254509
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Optic atrophy, Ptosis	ORPHA:1473
Developmental Delay With Variable Neurologic And Brain Abnormalities	Long palpebral fissure, Gray matter heterotopia, Upslanted palpebral fissure, Sparse lateral eyebrow	OMIM:619694
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome	Optic atrophy, Ptosis	ORPHA:1154
Adult Intestinal Botulism	Ptosis	ORPHA:178487
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome	Ptosis	ORPHA:2229
Brain Small Vessel Disease 2	Subcortical heterotopia, Polymicrogyria	OMIM:614483
Spinocerebellar Ataxia 50	Froment sign, Ptosis	OMIM:620158
Stickler Syndrome, Type Vi	Downslanted palpebral fissures, Ptosis	OMIM:620022
Myasthenic Syndrome, Congenital, 4B, Fast-Channel	Ptosis	OMIM:616324
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Facial palsy, Ptosis	OMIM:616313
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619989
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Upslanted palpebral fissure, Synophrys, Ptosis	OMIM:616083
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome	Ptosis	ORPHA:330054
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language	Epicanthus, Telecanthus, Sparse eyebrow, Thick eyebrow, Ptosis	OMIM:617268
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	ORPHA:1390
Joubert Syndrome 30	Gray matter heterotopia, Ptosis	OMIM:617622
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome	Ptosis	ORPHA:1875
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:608931
Non-Distal Deletion 10Q	Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys	ORPHA:1581
Joubert Syndrome 26	Ptosis	OMIM:616784
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, Aganglionic megacolon, White eyebrow, Synophrys, Thick eyebrow, Ptosis	ORPHA:894
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency	Ptosis	ORPHA:324262
Periventricular Nodular Heterotopia 1	Gray matter heterotopia, Patent ductus arteriosus, Abnormality of neuronal migration	OMIM:300049
Mungan Syndrome	Abnormality of the autonomic nervous system, Bilateral ptosis	OMIM:611376
Hypotonia-Cystinuria Syndrome	Epicanthus, Ptosis	ORPHA:163690
Frontoocular Syndrome	Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:605321
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4	Ptosis	OMIM:617070
Myopathy, Centronuclear, 1	Facial palsy, Ptosis	OMIM:160150
Cornelia De Lange Syndrome 2	Highly arched eyebrow, Synophrys, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, ...	OMIM:300590
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome	Epicanthus, Ptosis	ORPHA:2958
Oculocerebrocutaneous Syndrome	Gray matter heterotopia, Eyelid coloboma, Orbital cyst	OMIM:164180
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Abnormality of neuronal migration	ORPHA:2204
Li-Campeau Syndrome	Telecanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:619189
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency	Facial palsy, Ptosis	OMIM:616323
Hypomelanosis Of Ito	Gray matter heterotopia, Epicanthus	OMIM:300337
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome	Epicanthus, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Ptosis	ORPHA:589905
Periventricular Nodular Heterotopia 7	Gray matter heterotopia, Optic disc pallor, Periventricular nodular heterotopia, Polymicrogyria	OMIM:617201
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Ptosis	OMIM:619972
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy	Optic disc pallor, Long eyelashes, Ptosis	OMIM:619076
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Narrow palpebral fissure, Ptosis	OMIM:301900
Prieto Syndrome	Epicanthus, Ptosis	OMIM:309610
11Q22.2Q22.3 Microdeletion Syndrome	Epicanthus, Thick eyebrow, Ptosis	ORPHA:444002
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis	OMIM:618736
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Palpebral edema, Ptosis	ORPHA:1259
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Blepharophimosis, Telecanthus, Ptosis	ORPHA:397973
Proteus Syndrome	Limbal dermoid, Downslanted palpebral fissures, Ptosis	OMIM:176920
Spinocerebellar Ataxia With Epilepsy	Optic atrophy, Ptosis	ORPHA:254881
Chromosome Xq13 Duplication Syndrome	Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral...	OMIM:301069
Autosomal Dominant Spastic Ataxia Type 1	Ptosis, Abnormal eyelid morphology	ORPHA:251282
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome	Epicanthus, Ptosis	ORPHA:1825
Trisomy 5P	Ptosis	ORPHA:1742
Craniosynostosis 3	Ptosis	OMIM:615314
Goldberg-Shprintzen Syndrome	Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Pachygyria, Downslanted pal...	OMIM:609460
Spinocerebellar Ataxia, Autosomal Recessive 31	Optic atrophy, Ptosis	OMIM:619422
Acalvaria	Abnormality of neuronal migration	ORPHA:945
Tubulinopathy-Associated Dysgyria	Bilateral ptosis, Pachygyria, Agyria, Dysgyria	ORPHA:467166
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogyria, Eyelid col...	ORPHA:2211
Legius Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611431
Myasthenic Syndrome, Congenital, 10	Ptosis	OMIM:254300
Hartsfield Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2117
Facial Paresis, Hereditary Congenital, 3	Unilateral ptosis, Epicanthus, Facial palsy, Lagophthalmos	OMIM:614744
Intellectual Developmental Disorder With Autism And Macrocephaly	Downslanted palpebral fissures, Ptosis	OMIM:615032
Microphthalmia, Syndromic 13	Ptosis	OMIM:300915
Subependymal Nodular Heterotopia	Gray matter heterotopia, Polymicrogyria, Abnormality of neuronal migration	ORPHA:101030
Isolated Congenital Alacrima	Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, Distichiasis, Ptosis	ORPHA:91416
Pontocerebellar Hypoplasia, Type 16	Optic atrophy, Ptosis	OMIM:619527
Lissencephaly Syndrome, Norman-Roberts Type	4-layered lissencephaly, Abnormality of neuronal migration, Microlissencephaly	ORPHA:89844
Walker-Warburg Syndrome	Abnormal cortical gyration, Pachygyria, Optic atrophy, Abnormality of neuronal migration, Macrogy...	ORPHA:899
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
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome	Blepharophimosis, Epicanthus, Ptosis	ORPHA:3236
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Macrogyria,...	ORPHA:2995
Proximal Myopathy With Extrapyramidal Signs	Optic atrophy, Ptosis	ORPHA:401768
Intellectual Disability-Developmental Delay-Contractures Syndrome	Ptosis	ORPHA:3454
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	ORPHA:457365
Myasthenic Syndrome, Congenital, 6, Presynaptic	Ptosis	OMIM:254210
Terminal Osseous Dysplasia	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:300244
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis	ORPHA:2988
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies	Optic atrophy, Simplified gyral pattern, Gray matter heterotopia, Lissencephaly, Downslanted palp...	OMIM:615219
Spinocerebellar Ataxia Type 28	Ptosis	ORPHA:101109
Mitochondrial Complex Ii Deficiency, Nuclear Type 1	Optic atrophy, Ptosis	OMIM:252011
Joubert Syndrome With Renal Defect	Polymicrogyria, Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:220497
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria	Decreased nerve conduction velocity, Ptosis	ORPHA:1933
Thrombocytopenia, Paris-Trousseau Type	Ptosis	OMIM:188025
Neurofibromatosis-Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:638
Mega-Corpus-Callosum Syndrome With Cerebellar Hypoplasia And Cortical Malformations	Simplified gyral pattern, Periventricular heterotopia	OMIM:618273
Noonan Syndrome 11	Downslanted palpebral fissures, Ptosis	OMIM:618499
Glutathionuria	Gray matter heterotopia	OMIM:231950
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Subcortical heterotopia, Agyria, Optic nerve hypoplasia, Gray matter heterotopia, Lissencephaly, ...	OMIM:614643
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Ptosis	ORPHA:1067
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia	Epicanthus, Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow, Ptosis	OMIM:608624
Autosomal Recessive Progressive External Ophthalmoplegia	Optic atrophy, Facial palsy, Ptosis	ORPHA:254886
Intellectual Developmental Disorder, Autosomal Dominant 23	Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:615761
Developmental And Epileptic Encephalopathy 18	Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:615476
Radio-Tartaglia Syndrome	Epicanthus, Highly arched eyebrow, Long eyebrows, Synophrys, Upslanted palpebral fissure, Gray ma...	OMIM:619312
Congenital Myopathy 4A, Autosomal Dominant	Facial palsy, Ptosis	OMIM:255310
X-Linked Creatine Transporter Deficiency	Aganglionic megacolon, Ptosis	ORPHA:52503
Cardiofaciocutaneous Syndrome 4	Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Ptosis	OMIM:615280
Edinburgh Malformation Syndrome	Synophrys, Abnormality of neuronal migration	ORPHA:1895
Myasthenic Syndrome, Congenital, 22	Ptosis	OMIM:616224
Mcdonough Syndrome	Synophrys, Short palpebral fissure, Ptosis	ORPHA:2471
Cardiofaciocutaneous Syndrome 2	Absent eyebrow, Ptosis	OMIM:615278
Myasthenic Syndrome, Congenital, 4A, Slow-Channel	Ptosis	OMIM:605809
Combined Oxidative Phosphorylation Deficiency 7	Facial diplegia, Facial paralysis, Optic atrophy, Ptosis	OMIM:613559
Mosaic Trisomy 14	Blepharophimosis, Ptosis	ORPHA:1703
Leigh Syndrome	Ptosis, Optic atrophy, Hepatocellular necrosis	OMIM:256000
Dermoodontodysplasia	Ptosis, Abnormal eyelid morphology	ORPHA:1660
Juberg-Hayward Syndrome	Highly arched eyebrow, Ptosis	OMIM:216100
Mitochondrial Complex I Deficiency, Nuclear Type 5	Optic atrophy, Ptosis	OMIM:618226
Diabetes And Deafness, Maternally Inherited	Ptosis	OMIM:520000
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis	ORPHA:3440
Cleft Palate-Large Ears-Small Head Syndrome	Ptosis	ORPHA:2013
Congenital Muscular Dystrophy With Cerebellar Involvement	Optic nerve hypoplasia, Optic atrophy, Gray matter heterotopia, Polymicrogyria, Type II lissencep...	ORPHA:370959
Frontofacionasal Dysplasia	Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl...	ORPHA:1791
Rhyns Syndrome	Ptosis	ORPHA:140976
Birk-Landau-Perez Syndrome	Optic atrophy, Upslanted palpebral fissure, Long eyelashes, Pachygyria, Ptosis	OMIM:617595
Chromosome 3Q13.31 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:615433
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ...	OMIM:218000
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Polymicrogyria, Ptosis	OMIM:618731
Myopathy With Extrapyramidal Signs	Epicanthus, Perisylvian polymicrogyria, Optic atrophy, Ptosis	OMIM:615673
Man1B1-Cdg	Epicanthus, Long eyebrows, Periventricular heterotopia, Sparse eyebrow, Long eyelashes, Downslant...	ORPHA:397941
Baraitser-Winter Syndrome 1	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Lissencephaly, Long palpebral fissur...	OMIM:243310
Myopathy, Centronuclear, 2	Facial palsy, Ptosis	OMIM:255200
Distal Duplication 15Q	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:1707
Desmosterolosis	Epicanthus, Abnormal cortical gyration, Pachygyria, Patent ductus arteriosus, Abnormality of neur...	ORPHA:35107
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome	Abnormality of neuronal migration	ORPHA:2772
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome	Ptosis	ORPHA:2868
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Medial flaring of the eyebrow, Periventricular heterotopia, Optic atrophy, Upslanted palpebral fi...	OMIM:619833
Mitochondrial Dna Depletion Syndrome 11	Facial palsy, Ptosis	OMIM:615084
9Q21.13 Microdeletion Syndrome	Long palpebral fissure, Gray matter heterotopia, Ptosis	ORPHA:531151
Joubert Syndrome 3	Frontal polymicrogyria, Epicanthus, Highly arched eyebrow, Ptosis	OMIM:608629
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Optic atrophy, Ptosis	ORPHA:93262
Joubert Syndrome With Ocular Defect	Polymicrogyria, Aganglionic megacolon, Highly arched eyebrow, Ptosis	ORPHA:220493
Blepharophimosis-Impaired Intellectual Development Syndrome	Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Patent ductus arteriosus, Sy...	OMIM:619293
Myasthenic Syndrome, Congenital, 5	Ptosis	OMIM:603034
Chromosome 2P16.1-P15 Deletion Syndrome	Epicanthus, Telecanthus, Optic nerve hypoplasia, Blepharophimosis, Pachygyria, Downslanted palpeb...	OMIM:612513
Warburg Micro Syndrome 4	Decreased motor nerve conduction velocity, Perisylvian polymicrogyria, Optic atrophy, Ptosis	OMIM:615663
Cornelia De Lange Syndrome 5	Telecanthus, Highly arched eyebrow, Synophrys, Long eyelashes, Ptosis	OMIM:300882
Congenital Myopathy 6 With Ophthalmoplegia	Ptosis	OMIM:605637
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome	Optic disc pallor, Ptosis	ORPHA:363429
Joubert Syndrome 35	Telecanthus, Synophrys, Highly arched eyebrow, Ptosis	OMIM:618161
Microcephaly-Capillary Malformation Syndrome	Optic atrophy, Simplified gyral pattern, Ptosis	OMIM:614261
Visual Impairment And Progressive Phthisis Bulbi	Ptosis	OMIM:618283
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Abnormal autonomic nervous system physiology, Ptosis	OMIM:146500
Cerebral Palsy, Spastic Quadriplegic, 3	Gray matter heterotopia	OMIM:617008
Bachmann-Bupp Syndrome	Absent eyebrow, Sparse eyelashes, Focal polymicrogyria, Blepharophimosis, Downslanted palpebral f...	OMIM:619075
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies	Epicanthus, Patent ductus arteriosus, Upslanted palpebral fissure, Periventricular nodular hetero...	OMIM:618659
Orthostatic Hypotension 1	Orthostatic hypotension, Ptosis	OMIM:223360
Orofaciodigital Syndrome Xvi	Gray matter heterotopia, Short palpebral fissure, Ptosis	OMIM:617563
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Epicanthus, Optic nerve hypoplasia, Bilateral ptosis, Simplified gyral pattern, Congenital fibros...	ORPHA:300570
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Optic atrophy, Ptosis	ORPHA:1185
Coffin-Siris Syndrome 5	Long eyelashes, Thick eyebrow, Ptosis	OMIM:616938
Teebi Hypertelorism Syndrome 2	Upper eyelid coloboma, Thick eyebrow, Ptosis	OMIM:619736
Ophthalmoplegia, External, With Rib And Vertebral Anomalies	Ptosis	OMIM:618155
Crouzon Syndrome	Conjunctivitis, Optic atrophy, Ptosis	ORPHA:207
Gaucher Disease, Atypical, Due To Saposin C Deficiency	Ptosis	OMIM:610539
Congenital Myopathy 1B, Autosomal Recessive	Facial palsy, Ptosis	OMIM:255320
Schuurs-Hoeijmakers Syndrome	Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Long eyelashes, Downslanted palpebral...	OMIM:615009
Coenzyme Q10 Deficiency, Primary, 4	Ptosis	OMIM:612016
Combined Oxidative Phosphorylation Deficiency 20	Ptosis	OMIM:615917
Myasthenic Syndrome, Congenital, 1A, Slow-Channel	Ptosis	OMIM:601462
Myasthenia Gravis	Facial palsy, Ptosis	OMIM:254200
Tetrasomy 12P	Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis	ORPHA:884
Van Maldergem Syndrome 1	Epicanthus, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Blep...	OMIM:601390
Marcus-Gunn Syndrome	Unilateral ptosis, Abnormal fifth cranial nerve morphology	ORPHA:91412
Hengel-Maroofian-Schols Syndrome	Epicanthus, Synophrys, Thick eyebrow, Ptosis	OMIM:619641
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:1778
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Long palpebral fissure, Pachygyria, Polymicrogyria, Ptosis	OMIM:603387
Combined Oxidative Phosphorylation Deficiency 32	Optic atrophy, Ptosis	OMIM:617664
Hypotonia-Cystinuria Syndrome	Long eyelashes, Facial palsy, Ptosis	OMIM:606407
Noonan Syndrome 9	Sparse eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:616559
Congenital Myopathy With Myasthenic-Like Onset	Ptosis	ORPHA:424107
Thanatophoric Dysplasia	Gray matter heterotopia, Patent ductus arteriosus, Downslanted palpebral fissures	ORPHA:2655
Developmental And Epileptic Encephalopathy 84	Epicanthus, Synophrys, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:618792
Chromosome 3Pter-P25 Deletion Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:613792
Congenital Myasthenic Syndromes With Glycosylation Defect	Facial palsy, Ptosis	ORPHA:353327
Machado-Joseph Disease	Abnormal autonomic nervous system physiology, Ptosis	OMIM:109150
Neu-Laxova Syndrome	Abnormal nasolacrimal system morphology, Abnormal cortical gyration, Abnormal eyelid morphology, ...	ORPHA:2671
Neuropathy, Congenital Hypomyelinating, 3	Decreased motor nerve conduction velocity, Facial diplegia, Epicanthus, Ptosis	OMIM:618186
Mitochondrial Dna-Related Progressive External Ophthalmoplegia	Ptosis	ORPHA:663
Childhood-Onset Nemaline Myopathy	Facial diplegia, Ptosis	ORPHA:171439
Paroxysmal Hemicrania	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:157835
Spinocerebellar Ataxia 28	Ptosis	OMIM:610246
Congenital Disorder Of Glycosylation, Type Iio	Downslanted palpebral fissures, Ptosis	OMIM:616828
Rere-Related Neurodevelopmental Syndrome	Epicanthus, Optic atrophy, Blepharophimosis, Broad eyebrow, Ptosis	ORPHA:494344
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect	Facial diplegia, Ptosis	ORPHA:521411
Fetal Trimethadione Syndrome	Epicanthus, Synophrys, Ptosis	ORPHA:1913
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Ptosis	OMIM:608423
Non-Specific Early-Onset Epileptic Encephalopathy	Downslanted palpebral fissures, Optic atrophy, Ptosis	ORPHA:442835
Poretti-Boltshauser Syndrome	Gray matter heterotopia	OMIM:615960
Intellectual Developmental Disorder, Autosomal Dominant 34	Upslanted palpebral fissure, Epicanthus, Synophrys, Bilateral ptosis	OMIM:616351
Keipert Syndrome	Epicanthus, Ptosis	ORPHA:2662
Xia-Gibbs Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Simplified gyral pattern, Ptosis	OMIM:615829
3C Syndrome	Downslanted palpebral fissures, Optic atrophy, Abnormality of neuronal migration	ORPHA:7
Freeman-Sheldon Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2053
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Epicanthus, Aganglionic megacolon, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:613603
Perlman Syndrome	Epicanthus, Ptosis	ORPHA:2849
Joubert Syndrome 8	Optic disc pallor, Ptosis	OMIM:612291
Mitochondrial Complex I Deficiency, Nuclear Type 4	Ptosis	OMIM:618225
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	OMIM:210700
Oculopharyngodistal Myopathy 3	Ptosis	OMIM:619473
Hadziselimovic Syndrome	Epicanthus, Ptosis	OMIM:612946
Thanatophoric Dysplasia Type 2	Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:93274
Spinocerebellar Ataxia, Autosomal Recessive 13	Ptosis	OMIM:614831
Infantile Sialic Acid Storage Disease	Epicanthus, Ptosis	OMIM:269920
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Ptosis	OMIM:613561
Mitochondrial Neurogastrointestinal Encephalomyopathy	Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Decreased sens...	ORPHA:298
Leukodystrophy, Hypomyelinating, 20	Ptosis	OMIM:619071
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2	Amyotrophic lateral sclerosis, Neurogenic bladder, Ptosis	OMIM:615911
Aniridia-Absent Patella Syndrome	Ptosis	ORPHA:1069
Amyloidosis, Hereditary, Transthyretin-Related	Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio...	OMIM:105210
Intellectual Developmental Disorder, X-Linked 12	Abnormality of neuronal migration	OMIM:300957
Vici Syndrome	Gray matter heterotopia, Optic atrophy	ORPHA:1493
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Epicanthus, Lacrimal duct stenosis, Patent ductus arteriosus, Optic atrophy, Ptosis	ORPHA:457193
Coach Syndrome 3	Ptosis	OMIM:619113
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Epicanthus, Downslanted palpebral fissures, Periventricular heterotopia	OMIM:614105
Joubert Syndrome With Hepatic Defect	Optic disc coloboma, Abnormality of neuronal migration, Highly arched eyebrow, Ptosis	ORPHA:1454
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Ptosis, Abnormal upper motor neuron morphology	ORPHA:275872
Myasthenic Syndrome, Congenital, 24, Presynaptic	Ptosis	OMIM:618198
Inclusion Body Myopathy And Brain White Matter Abnormalities	Ptosis	OMIM:619733
Congenital Myopathy 19	Ptosis	OMIM:618578
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5	Ptosis	OMIM:618098
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus	Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro...	ORPHA:572333
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis	Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:617333
Neuromuscular Oculoauditory Syndrome	Decreased nerve conduction velocity, Epicanthus, Periventricular heterotopia, Decreased amplitude...	OMIM:618733
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome	Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis	ORPHA:73246
King-Denborough Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:619542
Oculopharyngodistal Myopathy 4	Ptosis	OMIM:619790
Postsynaptic Congenital Myasthenic Syndromes	Facial palsy, Ptosis	ORPHA:98913
Arthrogryposis, Distal, Type 5	Blepharophimosis, Epicanthus, Ptosis	OMIM:108145
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome	Downslanted palpebral fissures, Facial palsy, Ptosis	ORPHA:3068
Wagr Syndrome	Ptosis	ORPHA:893
Cntnap2-Related Developmental And Epileptic Encephalopathy	Downslanted palpebral fissures, Abnormality of neuronal migration, Abnormal neuron morphology	ORPHA:163681
Myasthenic Syndrome, Congenital, 20, Presynaptic	Facial palsy, Ptosis	OMIM:617143
Coffin-Lowry Syndrome	Downslanted palpebral fissures, Epicanthus, Optic atrophy, Abnormality of neuronal migration	ORPHA:192
Auriculocondylar Syndrome 2A	Ptosis	OMIM:614669
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Ptosis	OMIM:619566
Periventricular Nodular Heterotopia	Patent ductus arteriosus, Periventricular heterotopia	ORPHA:98892
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature	Optic atrophy, Ptosis	OMIM:609037
Acromelic Frontonasal Dysostosis	Telecanthus, Optic nerve hypoplasia, Gray matter heterotopia, Periventricular nodular heterotopia...	OMIM:603671
Nager Syndrome	Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia...	ORPHA:245
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Blepharophimosis, Downslanted palpebral fissures, Ptosis	ORPHA:391372
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616801
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Epicanthus, Long eyelashes, Optic atrophy, Periventricular heterotopia	OMIM:618476
Ohdo Syndrome	Sparse eyebrow, Epicanthus, Blepharophimosis, Ptosis	OMIM:249620
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6	Ptosis	OMIM:615156
Joubert Syndrome 14	Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis	OMIM:614424
Tukel Syndrome	Congenital fibrosis of extraocular muscles, Ptosis	OMIM:609428
Combined Oxidative Phosphorylation Deficiency 47	Ptosis	OMIM:618958
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Bilateral ptosis, Optic atrophy, Facial palsy, Ptosis	OMIM:258450
Coffin-Siris Syndrome 3	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614608
Myasthenic Syndrome, Congenital, 14	Ptosis	OMIM:616228
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Epicanthus, Patent ductus arteriosus, Optic atrophy, Ptosis	OMIM:220500
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2	Bilateral ptosis, Ptosis	OMIM:616479
Robinow-Sorauf Syndrome	Bilateral ptosis, Downslanted palpebral fissures, Shallow orbits	OMIM:180750
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
Acrofrontofacionasal Dysostosis	Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1784
Wolfram Syndrome 1	Neurogenic bladder, Optic atrophy, Ptosis	OMIM:222300
Adult-Onset Autosomal Recessive Cerebellar Ataxia	Tortuosity of conjunctival vessels, Ptosis	ORPHA:284289
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Optic disc pallor, Ptosis	OMIM:615838
Distal Duplication 6P	Abnormal eyelash morphology, Blepharophimosis, Ptosis	ORPHA:1745
Van Maldergem Syndrome 2	Epicanthus, Subcortical band heterotopia, Gray matter heterotopia, Narrow palpebral fissure, Blep...	OMIM:615546
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect	Ptosis	OMIM:617468
4Q21 Microdeletion Syndrome	Synophrys, Long eyelashes, Ptosis	ORPHA:238750
Spinocerebellar Ataxia 47	Ptosis	OMIM:617931
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Gray matter heterotopia, Abnormal autonomic nervous system physiology, Shallow orbits, Long palpe...	ORPHA:453499
Chromosome 5Q12 Deletion Syndrome	Long palpebral fissure, Epicanthus, Patent ductus arteriosus, Ptosis	OMIM:615668
X-Linked Mandibulofacial Dysostosis	Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis	ORPHA:1131
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Gray matter heterotopia, Horizontal eyebrow, Thick eyebrow	OMIM:618797
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Upslanted palpebral fissure, Bleph...	OMIM:617360
Autosomal Dominant Optic Atrophy, Classic Form	Temporal optic disc pallor, Optic atrophy, Ptosis	ORPHA:98673
Takenouchi-Kosaki Syndrome	Highly arched eyebrow, Sparse eyebrow, Patent ductus arteriosus, Synophrys, Optic atrophy, Upslan...	OMIM:616737
Combined Oxidative Phosphorylation Deficiency 24	Optic atrophy, Ptosis	OMIM:616239
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Downslanted palpebral fissure...	OMIM:620098
Wieacker-Wolff Syndrome	Upslanted palpebral fissure, Facial palsy, Ptosis	OMIM:314580
Noonan Syndrome 5	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:611553
2P15P16.1 Microdeletion Syndrome	Epicanthus, Telecanthus, Optic nerve hypoplasia, Facial palsy, Sparse eyebrow, Optic atrophy, Lon...	ORPHA:261349
Visceral Myopathy, Familial, With External Ophthalmoplegia	Ptosis	OMIM:277320
Sunct Syndrome	Conjunctival hyperemia, Palpebral edema, Ptosis	ORPHA:57145
Blepharophimosis, Ptosis, And Epicanthus Inversus	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:110100
Fragile X Syndrome	Periventricular heterotopia	OMIM:300624
Noonan Syndrome 8	Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:615355
Pyruvate Dehydrogenase E1-Alpha Deficiency	Ptosis	OMIM:312170
Congenital Fibrosis Of Extraocular Muscles	Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular ...	ORPHA:45358
Autosomal Recessive Dopa-Responsive Dystonia	Ptosis	ORPHA:101150
Buratti-Harel Syndrome	Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis	OMIM:619314
Weiss-Kruszka Syndrome	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:618619
Meckel Syndrome, Type 10	Narrow palpebral fissure, Epicanthus, Ptosis	OMIM:614175
Frontonasal Dysplasia 1	Epicanthus, Ptosis	OMIM:136760
Muenke Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:602849
Richieri-Costa/Guion-Almeida Syndrome	Eyelid coloboma, Downslanted palpebral fissures, Ptosis	OMIM:268850
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Epicanthus, Patent ductus arteriosus, Synophrys, Upslanted palpebral fissure, Downslanted palpebr...	OMIM:617061
Microcephalic Primordial Dwarfism, Montreal Type	Ptosis	ORPHA:2617
Coffin-Siris Syndrome 2	Long eyelashes, Thick eyebrow, Ptosis	OMIM:614607
Juberg-Hayward Syndrome	Abnormal eyebrow morphology, Highly arched eyebrow, Ptosis	ORPHA:2319
Pyruvate Dehydrogenase E2 Deficiency	Ptosis	OMIM:245348
Congenital Myopathy 5 With Cardiomyopathy	Ptosis	OMIM:611705
Lymphedema-Hypoparathyroidism Syndrome	Telecanthus, Ptosis	OMIM:247410
Aarskog-Scott Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:915
Dworschak-Punetha Neurodevelopmental Syndrome	Ptosis, Sparse lateral eyebrow	OMIM:619955
Brown-Vialetto-Van Laere Syndrome 1	Ptosis, Facial palsy, Cranial nerve motor loss	OMIM:211530
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency	Ptosis	ORPHA:70594
Mesomelia-Synostoses Syndrome	Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2496
Cardiac Valvular Dysplasia, X-Linked	Ptosis	OMIM:314400
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Upslanted palpebral fissure, Epicanthus, Horizontal eyebrow, Ptosis	ORPHA:369891
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Synophrys, Downslanted palpebral fissures, Telecanthus, Periventricular heterotopia	OMIM:618929
16Q24.3 Microdeletion Syndrome	Upslanted palpebral fissure, Optic nerve hypoplasia, Highly arched eyebrow, Periventricular heter...	ORPHA:261250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14	Ptosis	OMIM:615351
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Almond-shaped palpebral fissure, Downslanted palpebral fissure...	OMIM:619087
Spastic Ataxia 5, Autosomal Recessive	Ptosis	OMIM:614487
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Long eyelashes, Ptosis	OMIM:617190
Myasthenic Syndrome, Congenital, 19	Facial palsy, Ptosis	OMIM:616720
Pseudo-Torch Syndrome 2	Gray matter heterotopia, Patent ductus arteriosus, Polymicrogyria	OMIM:617397
Cerebral Creatine Deficiency Syndrome 1	Aganglionic megacolon, Ptosis	OMIM:300352
Combined Oxidative Phosphorylation Defect Type 7	Facial diplegia, Optic atrophy, Ptosis	ORPHA:254930
Dystonia 34, Myoclonic	Ptosis	OMIM:619724
Agel Amyloidosis	Facial palsy, Bilateral ptosis, Keratoconjunctivitis sicca, Blepharochalasis, Orthostatic hypoten...	ORPHA:85448
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)	Facial diplegia, Ptosis	OMIM:612073
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Ptosis	ORPHA:2511
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Patent ductus arteriosus, Upslanted palpebral fissure, Gray matter...	OMIM:214100
Intestinal Botulism	Ptosis	ORPHA:178481
Wieacker-Wolff Syndrome, Female-Restricted	Facial palsy, Ptosis	OMIM:301041
Orofaciodigital Syndrome V	Unilateral ptosis, Downslanted palpebral fissures, Optic disc coloboma, Aganglionic megacolon	OMIM:174300
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
Short Stature And Facioauriculothoracic Malformations	Ptosis	OMIM:609654
Toxin-Mediated Infectious Botulism	Ptosis	ORPHA:230800
Developmental And Epileptic Encephalopathy 110	Ptosis	OMIM:620149
Houge-Janssens Syndrome 1	Downslanted palpebral fissures, Ptosis	OMIM:616355
Congenital Disorder Of Deglycosylation 2	Gray matter heterotopia, Polymicrogyria, Highly arched eyebrow	OMIM:619775
Rubinstein-Taybi Syndrome	Telecanthus, Epicanthus, Highly arched eyebrow, Nasolacrimal duct obstruction, Downslanted palpeb...	ORPHA:783
Alkuraya-Kucinskas Syndrome	Upslanted palpebral fissure, Gray matter heterotopia, Lissencephaly	OMIM:617822
Aniridia 1	Bilateral ptosis, Polymicrogyria, Optic nerve hypoplasia, Ptosis	OMIM:106210
Holoprosencephaly	Epicanthus, Highly arched eyebrow, Synophrys, Optic atrophy, Abnormality of neuronal migration, U...	ORPHA:2162
Miller-Dieker Lissencephaly Syndrome	Epicanthus, Upslanted palpebral fissure, Gray matter heterotopia, Lissencephaly, Pachygyria, Agyria	OMIM:247200
Intellectual Developmental Disorder, Autosomal Dominant 56	Upslanted palpebral fissure, Ptosis	OMIM:617854
Noonan Syndrome 4	Epicanthus, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fissures, Ptosis	OMIM:610733
Chromosome 19Q13.11 Deletion Syndrome, Distal	Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissu...	OMIM:613026
Polyvalvular Heart Disease Syndrome	Ptosis	ORPHA:228410
3Mc Syndrome	Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral ...	ORPHA:293843
Axial Spondylometaphyseal Dysplasia	Optic atrophy, Ptosis	ORPHA:168549
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism	Ptosis	OMIM:616549
Carey-Fineman-Ziter Syndrome	Epicanthus, Downslanted palpebral fissures, Facial palsy, Ptosis	ORPHA:1358
Congenital Disorder Of Glycosylation, Type 2V	Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:619493
Typical Nemaline Myopathy	Facial diplegia, Facial palsy, Ptosis	ORPHA:171436
Neurocutaneous Melanocytosis	Abnormality of neuronal migration	ORPHA:2481
Aase-Smith Syndrome I	Ptosis	OMIM:147800
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures	Ptosis	OMIM:618170
Oculocerebrocutaneous Syndrome	Eyelid coloboma, Polymicrogyria, Ptosis	ORPHA:1647
Jackson-Weiss Syndrome	Ptosis	ORPHA:1540
Skeletal Dysplasia, Mild, With Joint Laxity And Advanced Bone Age	Patent ductus arteriosus, Downslanted palpebral fissures, Periventricular heterotopia	OMIM:618870
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome	Bilateral ptosis, Optic atrophy, Long eyelashes, Long palpebral fissure, Downslanted palpebral fi...	ORPHA:324540
Frontofacionasal Dysplasia	Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs...	OMIM:229400
Autosomal Recessive Multiple Pterygium Syndrome	Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Antecubital pterygium, Po...	ORPHA:2990
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Abnormality of neuronal migration	ORPHA:2063
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome	Ptosis	ORPHA:313772
Borjeson-Forssman-Lehmann Syndrome	Blepharophimosis, Thick eyebrow, Ptosis	ORPHA:127
Pyruvate Dehydrogenase E1-Beta Deficiency	Pachygyria, Periventricular heterotopia	ORPHA:255138
22Q11.2 Duplication Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:1727
Proboscis Lateralis	Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Optic nerve hyp...	ORPHA:141099
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5	Ptosis	OMIM:613077
Fountain Syndrome	Epicanthus, Synophrys, Thick eyebrow, Ptosis	ORPHA:3219
Congenital Multicore Myopathy With External Ophthalmoplegia	Facial diplegia, Facial palsy, Ptosis	ORPHA:98905
Holoprosencephaly 4	Ptosis	OMIM:142946
Fetal Alcohol Syndrome	Epicanthus, Telecanthus, Ptosis	ORPHA:1915
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia	Ptosis	OMIM:618451
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Ptosis	OMIM:606220
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Periventricular heterotopia, Simplified gyral pattern,...	ORPHA:468631
Schwartz-Jampel Syndrome, Type 1	Blepharophimosis, Ptosis, Narrow palpebral fissure, Long eyelashes in irregular rows	OMIM:255800
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Ptosis	OMIM:615510
Galloway-Mowat Syndrome	Pachygyria, Abnormality of neuronal migration	ORPHA:2065
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
Joubert Syndrome 7	Ptosis	OMIM:611560
Monosomy 18P	Epicanthus, Ptosis	ORPHA:1598
Acrofrontofacionasal Dysostosis 2	Downslanted palpebral fissures, Ptosis	OMIM:239710
Carnitine Palmitoyltransferase Ii Deficiency	Polymicrogyria, Pachygyria, Abnormality of neuronal migration, Renal tubular epithelial necrosis	ORPHA:157
Koolen-De Vries Syndrome	Epicanthus, Patent ductus arteriosus, Upslanted palpebral fissure, Gray matter heterotopia, Bleph...	OMIM:610443
Char Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	ORPHA:46627
Microphthalmia, Isolated, With Coloboma 9	Narrow palpebral fissure, Ptosis	OMIM:615145
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Telecanthus, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis	ORPHA:314655
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Ptosis	OMIM:619046
Codas Syndrome	Epicanthus, Ptosis	ORPHA:1458
Craniosynostosis 6	Ptosis	OMIM:616602
Okur-Chung Neurodevelopmental Syndrome	Epicanthus, Highly arched eyebrow, Synophrys, Simplified gyral pattern, Epicanthus inversus, Pach...	OMIM:617062
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)	Facial palsy, Ptosis	OMIM:607483
Multiple Acyl-Coa Dehydrogenase Deficiency	Gray matter heterotopia, Hepatic periportal necrosis, Telecanthus	ORPHA:26791
Ververi-Brady Syndrome	Upslanted palpebral fissure, Ptosis	OMIM:617982
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Ptosis	ORPHA:352447
Pontine Tegmental Cap Dysplasia	Facial palsy, Ptosis	OMIM:614688
16P13.11 Microdeletion Syndrome	Downslanted palpebral fissures, Abnormality of neuronal migration	ORPHA:261236
Periventricular Nodular Heterotopia 9	Epicanthus, Synophrys, Gray matter heterotopia, Periventricular nodular heterotopia, Polymicrogyria	OMIM:618918
Kury-Isidor Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:619762
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome	Ptosis	ORPHA:2824
Dopamine Beta-Hydroxylase Deficiency	Bilateral ptosis, Orthostatic hypotension	ORPHA:230
Coach Syndrome 1	Optic disc pallor, Ptosis	OMIM:216360
Chiari Malformation Type Ii	Gray matter heterotopia	OMIM:207950
Kaufman Oculocerebrofacial Syndrome	Optic disc pallor, Epicanthus, Telecanthus, Sparse eyebrow, Upslanted palpebral fissure, Blepharo...	OMIM:244450
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Ptosis	ORPHA:2522
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	ORPHA:33001
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy	Optic atrophy, Ptosis	OMIM:251900
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Upslanted palpebral fissure, Epicanthus, Ptosis	OMIM:300260
6Q Terminal Deletion Syndrome	Highly arched eyebrow, Periventricular heterotopia, Abnormality of neuronal migration, Gray matte...	ORPHA:75857
Fetal Hydantoin Syndrome	Epicanthus, Ptosis	ORPHA:1912
Kosaki Overgrowth Syndrome	Xanthelasma, Downslanted palpebral fissures, Ptosis	OMIM:616592
Sifrim-Hitz-Weiss Syndrome	Epicanthus, Patent ductus arteriosus, Upslanted palpebral fissure, Short palpebral fissure, Ptosis	OMIM:617159
Congenital Myopathy 22A, Classic	Bilateral ptosis, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:620351
Peroxisome Biogenesis Disorder 13A (Zellweger)	Gray matter heterotopia, Polymicrogyria	OMIM:614887
Cardiofaciocutaneous Syndrome	Epicanthus, Abnormal eyelash morphology, Optic atrophy, Sparse or absent eyelashes, Long palpebra...	ORPHA:1340
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Congenital bilateral ptosis, Ptosis	ORPHA:73272
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Abnormality of the autonomic ner...	ORPHA:79138
Wound Botulism	Ptosis	ORPHA:178475
Bilateral Perisylvian Polymicrogyria	Facial diplegia, Perisylvian predominant thick cortex pachygyria, Abnormality of neuronal migrati...	ORPHA:98889
Chromosome 17P13.1 Deletion Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Narrow palpebral fissure, Downslanted ...	OMIM:613776
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Optic atrophy, Ptosis	ORPHA:1555
Gjc2-Related Late-Onset Primary Lymphedema	Ptosis	ORPHA:568051
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy	Optic atrophy, Ptosis	ORPHA:436271
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Patent ductus arteriosus, Synop...	OMIM:610759
Inhalational Botulism	Ptosis	ORPHA:254504
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Abnormal shape of the palpebral fissure, Downslanted palpebral fissu...	ORPHA:363659
Jacobsen Syndrome	Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio...	OMIM:147791
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Polymicrogyria, Abnormality of neuronal migration	OMIM:608836
Thanatophoric Dysplasia Type 1	Gray matter heterotopia, Patent ductus arteriosus	ORPHA:1860
Trisomy 17P	Patent ductus arteriosus, Downslanted palpebral fissures, Broad eyebrow, Ptosis	ORPHA:261290
Orofaciodigital Syndrome Type 6	Epicanthus, Abnormality of neuronal migration, Highly arched eyebrow	ORPHA:2754
Ruvalcaba Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:3121
Charcot-Marie-Tooth Disease Type 4B2	Decreased distal sensory nerve action potential, Optic atrophy, Ptosis	ORPHA:99956
Aicardi Syndrome	Optic disc coloboma, Optic atrophy, Gray matter heterotopia, Pachygyria, Polymicrogyria, Sparse l...	OMIM:304050
Joubert Syndrome 37	Ptosis	OMIM:619185
Bohring-Opitz Syndrome	Upslanted palpebral fissure, Gray matter heterotopia, Epicanthus	OMIM:605039
Arthrogryposis, Distal, Type 5D	Ptosis, Highly arched eyebrow, Lagophthalmos	OMIM:615065
Myopathy, Myofibrillar, 8	Ptosis	OMIM:617258
Acro-Renal-Ocular Syndrome	Epicanthus, Aganglionic megacolon, Optic disc coloboma, Short palpebral fissure, Ptosis	ORPHA:959
Miller Fisher Syndrome	Facial palsy, Ptosis	ORPHA:98919
3Mc Syndrome 3	Blepharophimosis, Epicanthus inversus, Highly arched eyebrow, Ptosis	OMIM:248340
Cdags Syndrome	Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis	OMIM:603116
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:606851
Carnitine Palmitoyl Transferase Ii Deficiency, Neonatal Form	Polymicrogyria, Pachygyria, Abnormality of neuronal migration, Renal tubular epithelial necrosis	ORPHA:228308
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
Oculogastrointestinal Muscular Dystrophy	Ptosis	ORPHA:1876
Insulin-Like Growth Factor I Deficiency	Ptosis	OMIM:608747
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A	Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt...	OMIM:178110
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2	Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Patent...	OMIM:617506
Galloway-Mowat Syndrome 1	Epicanthus, Pachygyria, Optic atrophy, Ptosis	OMIM:251300
Joubert Syndrome 1	Optic disc pallor, Epicanthus, Highly arched eyebrow, Optic disc coloboma, Ptosis	OMIM:213300
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Ptosis	ORPHA:257
Cerebrofacioarticular Syndrome	Blepharophimosis, Gray matter heterotopia, Epicanthus	ORPHA:314679
3Mc Syndrome 1	Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Synophrys, Blepharophimosis, Epi...	OMIM:257920
Pde4D Haploinsufficiency Syndrome	Long palpebral fissure, Narrow palpebral fissure, Ptosis	ORPHA:439822
Cardiac, Facial, And Digital Anomalies With Developmental Delay	Epicanthus, Patent ductus arteriosus, Optic atrophy, Ptosis	OMIM:618164
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Absent eyelashes, Optic nerve dysplasia, Palpebral thickening, Downsl...	OMIM:115150
Muenke Syndrome	Ptosis	ORPHA:53271
Intellectual Developmental Disorder, Autosomal Recessive 65	Downslanted palpebral fissures, Ptosis	OMIM:618109
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:3134
Alg11-Cdg	Gray matter heterotopia	ORPHA:280071
Beck-Fahrner Syndrome	Lacrimal duct stenosis, Ptosis	OMIM:618798
Thanatophoric Dysplasia, Type I	Gray matter heterotopia	OMIM:187600
Marden-Walker Syndrome	Blepharophimosis, Epicanthus, Ptosis	OMIM:248700
Genitourinary And/Or Brain Malformation Syndrome	Epicanthus, Upslanted palpebral fissure, Gray matter heterotopia, Epicanthus inversus, Polymicrog...	OMIM:618820
Acrocraniofacial Dysostosis	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:949
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Telecanthus, Patent ductus arteriosus, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:217980
Carey-Fineman-Ziter Syndrome 1	Epicanthus, Facial palsy, Lagophthalmos, Downslanted palpebral fissures, Ptosis	OMIM:254940
Myasthenia, Limb-Girdle, Autoimmune	Ptosis	OMIM:159400
2Q31.1 Microdeletion Syndrome	Epicanthus, Synophrys, Optic disc coloboma, Downslanted palpebral fissures, Short palpebral fissu...	ORPHA:251014
Synaptic Congenital Myasthenic Syndromes	Bilateral ptosis, Facial palsy, Ptosis	ORPHA:98915
Mitochondrial Complex Iv Deficiency, Nuclear Type 1	Optic atrophy, Ptosis	OMIM:220110
Cenani-Lenz Syndrome	Ectropion, Downslanted palpebral fissures, Ptosis	ORPHA:3258
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Ptosis	OMIM:212112
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Blepharophimosis, Ptosis	ORPHA:2031
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3	Ptosis	OMIM:609286
Alexander Disease	Abnormal autonomic nervous system physiology, Facial palsy, Ptosis	ORPHA:58
Saethre-Chotzen Syndrome	Blepharospasm, Epicanthus, Optic atrophy, Ptosis	ORPHA:794
Multiple Pterygium Syndrome, Escobar Variant	Epicanthus, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pterygium, Intercru...	OMIM:265000
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Highly arched eyebrow, Sparse eyebrow, Patent ductus arteriosus, Synophrys, Optic atrophy, Upslan...	ORPHA:487796
Emanuel Syndrome	Upslanted palpebral fissure, Patent ductus arteriosus, Hooded eyelid, Ptosis	ORPHA:96170
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Ptosis	OMIM:560000
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Ptosis	ORPHA:364028
Lateral Meningocele Syndrome	Neurogenic bladder, Telecanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:130720
Arthrogryposis, Distal, Type 1A	Ptosis	OMIM:108120
Refsum Disease, Classic	Ptosis	OMIM:266500
8Q21.11 Microdeletion Syndrome	Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:284160
Arima Syndrome	Gray matter heterotopia, Optic atrophy, Ptosis	OMIM:243910
Tyshchenko Syndrome	Ptosis	OMIM:615102
Moebius Syndrome	Epicanthus, Blepharitis, Facial palsy, Ptosis	ORPHA:570
Arthrogryposis, Distal, Type 3	Epicanthus, Ptosis	OMIM:114300
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:104350
Spinocerebellar Ataxia 36	Ptosis	OMIM:614153
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Optic disc pallor, Patent ductus arteriosus, Abnormality of neuronal migration	ORPHA:464311
Isolated Complex I Deficiency	Optic disc pallor, Optic neuropathy, Ptosis	ORPHA:2609
Phelan-Mcdermid Syndrome	Epicanthus, Palpebral edema, Patent ductus arteriosus, Long eyelashes, Thick eyebrow, Ptosis	OMIM:606232
Six2-Related Frontonasal Dysplasia	Epicanthus inversus, Ptosis	ORPHA:488437
Ehlers-Danlos Syndrome, Classic-Like, 2	Bilateral ptosis, Thin eyebrow, Ptosis	OMIM:618000
Koolen-De Vries Syndrome	Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Ptosis	ORPHA:96169
Mucopolysaccharidosis, Type Ii	Papilledema, Ptosis	OMIM:309900
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:614230
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Ptosis	ORPHA:1323
Basel-Vanagaite-Smirin-Yosef Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:616449
Intellectual Developmental Disorder, Autosomal Dominant 57	Epicanthus, Telecanthus, Upslanted palpebral fissure, Blepharophimosis, Ptosis	OMIM:618050
Neurodevelopmental Disorder With Seizures, Microcephaly, And Brain Abnormalities	Gray matter heterotopia, Frontal polymicrogyria, Patent ductus arteriosus, Pachygyria	OMIM:620024
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Optic nerve hypoplasia, Gray matter heterotopia, Shallow orbits, Long palpebral fissure, Eversion...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Optic nerve hypoplasia, Gray matter heterotopia, Shallow orbits, Long palpebral fissure, Eversion...	ORPHA:352665
Branchio-Oculo-Facial Syndrome	Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis	ORPHA:1297
Cerebrooculonasal Syndrome	Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Ptosis	OMIM:605627
Oculofaciocardiodental Syndrome	Patent ductus arteriosus, Highly arched eyebrow, Ptosis	ORPHA:2712
Brain Dopamine-Serotonin Vesicular Transport Disease	Ptosis	ORPHA:352649
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:619758
Spinocerebellar Ataxia Type 36	Ptosis	ORPHA:276198
3Mc Syndrome 2	Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis	OMIM:265050
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Blepharophimosis, Ptosis	ORPHA:2728
Microcephaly, Epilepsy, And Diabetes Syndrome 1	Optic atrophy, Simplified gyral pattern, Ptosis	OMIM:614231
Angelman Syndrome	Optic disc pallor, Optic atrophy, Ptosis	ORPHA:72
Infant Botulism	Keratoconjunctivitis sicca, Ptosis	ORPHA:178478
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Ptosis	OMIM:167100
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency	Ptosis	ORPHA:13
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome	Pseudopapilledema, Ptosis	OMIM:146255
Rhyns Syndrome	Ptosis	OMIM:602152
Wiedemann-Steiner Syndrome	Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Long eyelashes, Short palpebral fissure, Ptosis	ORPHA:319182
Treacher Collins Syndrome 1	Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow...	OMIM:154500
Autosomal Recessive Spastic Paraplegia Type 77	Neurogenic bladder, Ptosis	ORPHA:466722
Gabriele-De Vries Syndrome	Telecanthus, Sparse eyebrow, Epiblepharon, Downslanted palpebral fissures, Ptosis	OMIM:617557
Arachnoid Cyst	Cranial nerve compression, Facial palsy, Ptosis	ORPHA:2356
Pfeiffer Syndrome	Ptosis	ORPHA:710
Foodborne Botulism	Ptosis	ORPHA:228371
Autosomal Dominant Centronuclear Myopathy	Ptosis	ORPHA:169189
Ventriculomegaly With Cystic Kidney Disease	Gray matter heterotopia	OMIM:219730
Lymphedema-Distichiasis Syndrome	Ectropion, Distichiasis, Conjunctivitis, Ptosis	OMIM:153400
Distal Deletion 3P	Blepharophimosis, Epicanthus, Telecanthus, Ptosis	ORPHA:1620
Beare-Stevenson Cutis Gyrata Syndrome	Downslanted palpebral fissures, Optic atrophy, Ptosis	OMIM:123790
Lateral Meningocele Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2789
Pagod Syndrome	Optic atrophy, Abnormality of neuronal migration	ORPHA:991
Giant Cell Arteritis	Optic atrophy, Ptosis	ORPHA:397
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Facial palsy, Ptosis	OMIM:157640
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development	Blepharophimosis, Telecanthus, Long eyelashes, Ptosis	OMIM:604314
Ohdo Syndrome, X-Linked	Epicanthus, Sparse eyebrow, Blepharophimosis, Downslanted palpebral fissures, Ptosis	OMIM:300895
Congenital Myasthenic Syndrome	Ptosis, Frontalis muscle weakness	ORPHA:590
Presynaptic Congenital Myasthenic Syndromes	Ptosis, Frontalis muscle weakness	ORPHA:98914
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism	Ptosis	OMIM:300845
Congenital Myopathy 13	Telecanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:255995
Reni Syndrome	Ptosis	OMIM:617575
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:305400
Chilton-Okur-Chung Neurodevelopmental Syndrome	Ptosis, Septo-optic dysplasia, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral pt...	OMIM:619841
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:264200
Scarf Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:312830
Chromosome 18P Deletion Syndrome	Epicanthus, Ptosis	OMIM:146390
Opitz-Kaveggia Syndrome	Gray matter heterotopia, Epicanthus, Downslanted palpebral fissures	OMIM:305450
Kbg Syndrome	Telecanthus, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Pt...	OMIM:148050
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash...	ORPHA:2526
Prolidase Deficiency	Ptosis	OMIM:170100
Refsum Disease	Ptosis	ORPHA:773
Orofaciodigital Syndrome I	Epicanthus, Telecanthus, Abnormal cortical gyration, Gray matter heterotopia, Downslanted palpebr...	OMIM:311200
Trichohepatoneurodevelopmental Syndrome	Epicanthus, Ectropion, Almond-shaped palpebral fissure, Patent ductus arteriosus, Synophrys, Long...	OMIM:618268
Mitochondrial Complex Iii Deficiency, Nuclear Type 6	Ptosis	OMIM:615453
Orofaciodigital Syndrome Xiv	Telecanthus, Periventricular heterotopia, Patent ductus arteriosus, Optic disc coloboma, Simplifi...	OMIM:615948
Nijmegen Breakage Syndrome	Upslanted palpebral fissure, Abnormality of neuronal migration, Abnormal eyelid morphology	ORPHA:647
Noonan Syndrome 10	Epicanthus, Sparse eyebrow, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:616564
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome	Ptosis	ORPHA:3217
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Epicanthus, Ptosis	OMIM:616723
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
Acromelic Frontonasal Dysplasia	Telecanthus, Ptosis	ORPHA:1827
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Upslanted palpebral fissure, Telecanthus, Ptosis	OMIM:620224
Wagro Syndrome	Downslanted palpebral fissures, Ptosis	OMIM:612469
Helsmoortel-Van Der Aa Syndrome	Epicanthus, Facial palsy, Bilateral ptosis, Ectropion of lower eyelids, Upslanted palpebral fissu...	OMIM:615873
Rapp-Hodgkin Syndrome	Sparse eyebrow, Absent lacrimal punctum, Sparse eyelashes, Ptosis	OMIM:129400
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
Vici Syndrome	Gray matter heterotopia, Epicanthus, Ptosis	OMIM:242840
Multiple Pterygium-Malignant Hyperthermia Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:2215
Kearns-Sayre Syndrome	Ptosis	OMIM:530000
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Upslanted palpebral fissu...	OMIM:213980
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Gray matter heterotopia, Optic nerve dysplasia, Type II lissencephaly	OMIM:615287
Autosomal Recessive Ataxia, Beauce Type	Ptosis	ORPHA:88644
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:616728
Noonan Syndrome 2	Epicanthus, Sparse eyebrow, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:605275
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Optic atrophy, Upslanted palpebral fissure, Blepharophimosis, Epicanthus inversus, Downslanted pa...	OMIM:309590
Loeys-Dietz Syndrome 4	Downslanted palpebral fissures, Ptosis	OMIM:614816
Oculopharyngodistal Myopathy 1	Bilateral ptosis, Facial palsy, Ptosis	OMIM:164310
Frontorhiny	Epicanthus, Ptosis	ORPHA:391474
Leigh Syndrome	Optic atrophy, Ptosis	ORPHA:506
Smith-Lemli-Opitz Syndrome	Epicanthus, Aganglionic megacolon, Abnormal eyelash morphology, Patent ductus arteriosus, Optic a...	ORPHA:818
Combined Oxidative Phosphorylation Deficiency 33	Ptosis	OMIM:617713
Neurofaciodigitorenal Syndrome	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2673
Basel-Vanagaite-Smirin-Yosef Syndrome	Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:464738
Fanconi Anemia	Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Almond-shaped palpebral fissure, P...	ORPHA:84
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse lateral eyebrow	OMIM:223370
Cardiac-Valvular Ehlers-Danlos Syndrome	Thick eyebrow, Ptosis	ORPHA:230851
Jacobsen Syndrome	Epicanthus, Ectropion, Eyelid coloboma, Pachygyria, Downslanted palpebral fissures, Aplasia/Hypop...	ORPHA:2308
Skin Creases, Congenital Symmetric Circumferential, 2	Epicanthus, Synophrys, Upslanted palpebral fissure, Blepharophimosis, Downslanted palpebral fissu...	OMIM:616734
Joubert Syndrome 21	Ptosis, Optic atrophy, Megalopapilla	OMIM:615636
Congenital Myopathy 17	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:618975
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Ptosis	OMIM:608643
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis	ORPHA:306542
Arboleda-Tham Syndrome	Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Patent ductus arteriosus, Optic atroph...	OMIM:616268
Intellectual Developmental Disorder, Autosomal Dominant 29	Synophrys, Downslanted palpebral fissures, Short palpebral fissure, Ptosis	OMIM:616078
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Ptosis	OMIM:613385
Shprintzen-Goldberg Craniosynostosis Syndrome	Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits	OMIM:182212
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Telecanthus, Hooded upper eyelid, Ptosis	OMIM:618548
Au-Kline Syndrome	Lagophthalmos, Shallow orbits, Long palpebral fissure, Downslanted palpebral fissures, Sparse lat...	OMIM:616580
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Keratoconjunctivitis sicca, Thick eyebrow, Ptosis	OMIM:616007
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Ptosis	ORPHA:70595
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Patent ductus arteriosus, Ptosis	OMIM:259100
Mitochondrial Complex I Deficiency, Nuclear Type 1	Upslanted palpebral fissure, Optic disc pallor, Optic neuropathy, Ptosis	OMIM:252010
Neutral Lipid Storage Disease With Ichthyosis	Ectropion, Ptosis	ORPHA:98907
Lathosterolosis	Epicanthus, Downslanted palpebral fissures, Ptosis	ORPHA:46059
22Q11.2 Deletion Syndrome	Telecanthus, Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Patent ductus arterio...	ORPHA:567
Multiple Synostoses Syndrome 1	Upslanted palpebral fissure, Ptosis	OMIM:186500
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Sparse eyebrow, Synophrys, Ptosis	OMIM:309583
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Ptosis	OMIM:309520
Phosphoribosylpyrophosphate Synthetase Superactivity	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:300661
Coffin-Siris Syndrome	Patent ductus arteriosus, Prominent eyelashes, Simplified gyral pattern, Thick eyebrow, Ptosis	ORPHA:1465
Dubowitz Syndrome	Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Sparse lateral eyebrow	ORPHA:235
Teebi-Shaltout Syndrome	Telecanthus, Highly arched eyebrow, Ptosis	OMIM:272950
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr...	OMIM:613458
Autosomal Dominant Progressive External Ophthalmoplegia	Facial diplegia, Facial palsy, Ptosis	ORPHA:254892
Hunter-Macdonald Syndrome	Patent ductus arteriosus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure,...	OMIM:611962
Autosomal Dominant Robinow Syndrome	Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal...	ORPHA:3107
Myasthenia Gravis	Ptosis	ORPHA:589
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis	ORPHA:369950
Loeys-Dietz Syndrome 5	Long palpebral fissure, Downslanted palpebral fissures, Ptosis	OMIM:615582
Duane Retraction Syndrome	Blepharophimosis, Blepharospasm, Short palpebral fissure, Ptosis	ORPHA:233
17Q24.2 Microdeletion Syndrome	Synophrys, Patent ductus arteriosus after birth at term, Downslanted palpebral fissures, Thick ey...	ORPHA:529962
Combined Oxidative Phosphorylation Deficiency 12	Ptosis	OMIM:614924
Smith-Lemli-Opitz Syndrome	Epicanthus, Aganglionic megacolon, Periventricular heterotopia, Patent ductus arteriosus, Ptosis	OMIM:270400
Autosomal Recessive Robinow Syndrome	Epicanthus, Upslanted palpebral fissure, Long eyelashes, Long palpebral fissure, Downslanted palp...	ORPHA:1507
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:301066
Shprintzen-Goldberg Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	ORPHA:2462
Auriculocondylar Syndrome	Ptosis	ORPHA:137888
Fontaine Progeroid Syndrome	Periventricular heterotopia, Patent ductus arteriosus, Synophrys, Gray matter heterotopia, Downsl...	OMIM:612289
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis	ORPHA:280
Glycogen Storage Disease Xii	Epicanthus, Ptosis	OMIM:611881
Neuroocular Syndrome	Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L...	OMIM:619539
Faciocardiomelic Syndrome	Telecanthus, Short eyelashes, Ptosis	OMIM:612731
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1	Downslanted palpebral fissures, Epicanthus, Long eyelashes, Ptosis	OMIM:607721
Menke-Hennekam Syndrome 1	Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Long eyelashes, Blepharophim...	OMIM:618332
Spondylodysplastic Ehlers-Danlos Syndrome	Optic disc coloboma, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis	ORPHA:536471
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia	Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis	OMIM:613563
Neurofibromatosis-Noonan Syndrome	Ptosis, Epicanthus, Downslanted palpebral fissures, Lisch nodules	OMIM:601321
Charge Syndrome	Epicanthus, Facial palsy, Highly arched eyebrow, Patent ductus arteriosus, Optic atrophy, Abnorma...	ORPHA:138
Nail-Patella Syndrome	Antecubital pterygium, Ptosis	OMIM:161200
Schwartz-Jampel Syndrome	Abnormal eyebrow morphology, Blepharospasm, Long eyelashes in irregular rows, Blepharophimosis, D...	ORPHA:800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Sparse eyelashes, Abnormal cortical gyration, Sparse eyebrow, Microlissencephaly, Gray matter het...	OMIM:210710
Phace Syndrome	Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis	ORPHA:42775
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
Noonan Syndrome 3	Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:609942
Mismatch Repair Cancer Syndrome 1	Gray matter heterotopia	OMIM:276300
Good Syndrome	Ptosis	ORPHA:169105
Holoprosencephaly 14	Gray matter heterotopia, Periventricular heterotopia	OMIM:619895
Myhre Syndrome	Blepharophimosis, Short palpebral fissure, Ptosis	ORPHA:2588
Intellectual Developmental Disorder, Autosomal Dominant 68	Epicanthus, Patent ductus arteriosus, Ptosis	OMIM:619934
Non-Functioning Pituitary Adenoma	Ptosis	ORPHA:91349
Primary Hepatic Neuroendocrine Carcinoma	Ptosis	ORPHA:100085
Kabuki Syndrome	Ptosis, Highly arched eyebrow, Long eyelashes, Eversion of lateral third of lower eyelids, Sparse...	ORPHA:2322
Opitz Gbbb Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Telecanthus, Ptosis	ORPHA:2745
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Ptosis	OMIM:615273
Pituitary Hormone Deficiency, Combined Or Isolated, 8	Ptosis	OMIM:620303
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Ptosis	ORPHA:228426
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Ptosis	OMIM:615895
Zygomycosis	Ptosis, Chemosis, Abnormal cranial nerve morphology	ORPHA:73263
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Patent ductu...	ORPHA:2363
Ayme-Gripp Syndrome	Upslanted palpebral fissure, Downslanted palpebral fissures, Broad eyebrow, Ptosis	OMIM:601088
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Epicanthus, Telecanthus, Highly arched eyebrow, Sparse lateral eyebrow, Ptosis	OMIM:280000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Patent ductus arteriosus, Synophrys, Long eyelashes, Downslanted palpebral...	ORPHA:444077
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Patent ductus arteriosus, Highly arched eyebrow, Ptosis	ORPHA:2282
Malignant Atrophic Papulosis	Ptosis	ORPHA:679
Pituitary Apoplexy	Ptosis	ORPHA:95613
Coffin-Siris Syndrome 4	Patent ductus arteriosus, Long eyelashes, Thick eyebrow, Ptosis	OMIM:614609
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Epicanthus, Optic disc coloboma, Short palpebral fissure, Ptosis	OMIM:617157
Lathosterolosis	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:607330
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of neuronal migration	ORPHA:3186
Myasthenic Syndrome, Congenital, 21, Presynaptic	Ptosis	OMIM:617239
Kallmann Syndrome	Ptosis	ORPHA:478
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Epicanthus, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis	OMIM:609945
Mesomelia-Synostoses Syndrome	Telecanthus, Downslanted palpebral fissures, Ptosis	OMIM:600383
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Epicanthus, Downslanted palpebral fissures, Ptosis	OMIM:225400
Monosomy 22Q13.3	Epicanthus, Palpebral edema, Long eyelashes, Thick eyebrow, Ptosis	ORPHA:48652
Prolactinoma	Ptosis	ORPHA:2965
Chime Syndrome	Upslanted palpebral fissure, Epicanthus, Ptosis	ORPHA:3474
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Patent ductus arteriosus, Downslanted palpebral fissures, Thick eyebrow, P...	ORPHA:1519
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Patent ductus arteriosus, Ptosis	ORPHA:17
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome	Ptosis	ORPHA:1969
Mowat-Wilson Syndrome	Aganglionic megacolon, Patent ductus arteriosus, Downslanted palpebral fissures, Broad eyebrow, P...	OMIM:235730
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Ptosis	OMIM:607459
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Nasolacrimal duct obs...	OMIM:180849
Noonan Syndrome With Multiple Lentigines	Ptosis	ORPHA:500
Marden-Walker Syndrome	Blepharophimosis, Short palpebral fissure, Ptosis	ORPHA:2461
Erdheim-Chester Disease	Xanthelasma, Ptosis	ORPHA:35687
Pachydermoperiostosis	Ptosis	ORPHA:2796
Costello Syndrome	Epicanthus, Vestibular schwannoma, Downslanted palpebral fissures, Ptosis	OMIM:218040
Orofaciodigital Syndrome Type 14	Upslanted palpebral fissure, Patent ductus arteriosus, Telecanthus, Periventricular heterotopia	ORPHA:434179
Abetalipoproteinemia	Keratoconjunctivitis sicca, Ptosis	ORPHA:14
Gabriele-De Vries Syndrome	Telecanthus, Lacrimal duct stenosis, Sparse eyebrow, Downslanted palpebral fissures, Ptosis	ORPHA:506358
Kabuki Syndrome 1	Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent eyelashes, Long palpebral fiss...	OMIM:147920
Cohen-Gibson Syndrome	Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:617561
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)	Ptosis	OMIM:603041
Codas Syndrome	Ptosis	OMIM:600373
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Ptosis	ORPHA:2072
Fetal Akinesia Deformation Sequence 1	Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis	OMIM:208150
Noonan Syndrome	Downslanted palpebral fissures, Ptosis	ORPHA:648
Monosomy 13Q14	Epicanthus, Ptosis	ORPHA:1587
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyelashes, Absent eyebrow, Aganglionic megacolon, Ptosis	OMIM:308205
Degcags Syndrome	Abnormal eyebrow morphology, Abnormal eyelash morphology, Patent ductus arteriosus, Synophrys, Lo...	OMIM:619488
Leopard Syndrome 1	Epicanthus, Ptosis	OMIM:151100
Proteus Syndrome	Retinal hamartoma, Gray matter heterotopia, Downslanted palpebral fissures, Ptosis	ORPHA:744
Thrombocytopenia-Absent Radius Syndrome	Patent ductus arteriosus, Ptosis	OMIM:274000
Hypermobile Ehlers-Danlos Syndrome	Decreased nerve conduction velocity, Epicanthus, Keratoconjunctivitis sicca, Ptosis	ORPHA:285
Cardiospondylocarpofacial Syndrome	Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis	OMIM:157800
Meckel Syndrome, Type 1	Epicanthus inversus, Patent ductus arteriosus, Ptosis	OMIM:249000
Cornelia De Lange Syndrome	Highly arched eyebrow, Curly eyelashes, Synophrys, Long eyelashes, Blepharitis, Thick eyebrow, Pt...	ORPHA:199
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Ptosis	OMIM:161700
Joubert Syndrome 5	Ptosis	OMIM:610188
Aicardi-Goutières Syndrome	Eyelid coloboma, Ptosis	ORPHA:51
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Upslanted palpebral fissure, Epicanthus, Optic atrophy, Ptosis	OMIM:309580
Microphthalmia, Syndromic 2	Patent ductus arteriosus, Laterally curved eyebrow, Blepharophimosis, Thick eyebrow, Ptosis	OMIM:300166
Kawasaki Disease	Conjunctivitis, Ptosis	ORPHA:2331
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Periventricular heterotopi...	ORPHA:261552
Glycogen Storage Disease Due To Acid Maltase Deficiency	Ptosis	ORPHA:365
Noonan Syndrome 1	Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	OMIM:163950
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Telecanthus, Aganglionic megacolon, Periventricular heterotopia, Polymicrogyria, Broad eyebrow, P...	ORPHA:261537
Diamond-Blackfan Anemia	Epicanthus, Ptosis	ORPHA:124
Coffin-Siris Syndrome 1	Patent ductus arteriosus, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, Ptosis	OMIM:135900
Hydrolethalus Syndrome 1	Gray matter heterotopia, Abnormal cortical gyration	OMIM:236680
Tsh-Secreting Pituitary Adenoma	Ptosis	ORPHA:91347
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Highly arched eyebrow, Trichiasis, Patent ductus arteriosus, Nasolacrimal duct obstruction, Downs...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Highly arched eyebrow, Trichiasis, Patent ductus arteriosus, Nasolacrimal duct obstruction, Downs...	ORPHA:353277
Branchiooculofacial Syndrome	Telecanthus, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Ptosis	OMIM:113620
Pearson Syndrome	Ptosis	ORPHA:699
Mowat-Wilson Syndrome	Telecanthus, Aganglionic megacolon, Periventricular heterotopia, Patent ductus arteriosus, Horizo...	ORPHA:2152
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities	Ptosis	OMIM:618748
Genitopatellar Syndrome	Pachygyria, Downslanted palpebral fissures, Periventricular heterotopia	OMIM:606170
Mitochondrial Complex Iii Deficiency, Nuclear Type 1	Ptosis	OMIM:124000
Wolf-Hirschhorn Syndrome	Epicanthus, Highly arched eyebrow, Ptosis	OMIM:194190
Saethre-Chotzen Syndrome	Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits	OMIM:101400
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
Charge Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Facial palsy, Ptosis	OMIM:214800
Okamoto Syndrome	Long palpebral fissure, Ptosis	ORPHA:2729
Autosomal Dominant Cutis Laxa	Ptosis	ORPHA:90348
Peters-Plus Syndrome	Upslanted palpebral fissure, Narrow palpebral fissure, Patent ductus arteriosus, Ptosis	OMIM:261540
Microphthalmia, Syndromic 1	Optic disc coloboma, Aganglionic megacolon, Ptosis	OMIM:309800
Pallister-Hall Syndrome	Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis	ORPHA:672
Trichorhinophalangeal Syndrome, Type Ii	Thick eyebrow, Ptosis	OMIM:150230
Viss Syndrome	Long palpebral fissure, Patent ductus arteriosus, Ectropion, Ptosis	OMIM:619472
Vascular Ehlers-Danlos Syndrome	Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Abnormal eyelash morphology, Aplasia/Hypoplas...	ORPHA:286
Primrose Syndrome	Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis	OMIM:259050
Pallister-Killian Syndrome	Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Patent ductus arteriosus, Upslanted pa...	OMIM:601803
Craniofacial Microsomia 1	Blepharophimosis, Patent ductus arteriosus, Upper eyelid coloboma, Limbal dermoid, 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 Gfra3

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 Gfra3.

No publications found that use IMPC mice or data for Gfra3.

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
Gfra3^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells
Gfra3^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

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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