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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by 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.

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 Similarity of
phenotypes
Matching phenotypes Source
Oculomotor-Levator Synkinesis
Abnormal eyelid morphology, Eyelid retraction, Ptosis OMIM:151610
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Marcus Gunn Phenomenon
Congenital ptosis, Unilateral ptosis OMIM:154600
Setting-Sun Phenomenon, Familial Benign
Upper eyelid retraction OMIM:600598
22q11 duplication syndrome
Telecanthus DECIPHER:32
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Deafness, X-Linked 7
Thick eyebrow, Telecanthus, Ptosis OMIM:301018
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Bifid Nose, Autosomal Dominant
Ptosis OMIM:109740
Episodic Pain Syndrome, Familial, 3
Abnormal autonomic nervous system physiology OMIM:615552
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Myasthenic Syndrome, Congenital, 8
Facial palsy, Ptosis OMIM:615120
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Cortical Dysplasia, Complex, With Other Brain Malformations 3
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:615411
Cortical Dysplasia, Complex, With Other Brain Malformations 4
Gray matter heterotopia, Pachygyria, Subcortical band heterotopia, Agyria OMIM:615412
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations
Abnormality of neuronal migration, Simplified gyral pattern, Pachygyria, Polymicrogyria, Gray mat... OMIM:604317
Neurodevelopmental Disorder With Cerebellar Hypoplasia And Spasticity
Periventricular nodular heterotopia, Optic atrophy OMIM:618572
Lissencephaly 1
Subcortical band heterotopia, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:607432
Periventricular Nodular Heterotopia 6
Periventricular nodular heterotopia, Gray matter heterotopia OMIM:615544
Orthostatic Intolerance
Orthostatic tachycardia OMIM:604715
Periventricular Nodular Heterotopia 7
Periventricular nodular heterotopia, Optic atrophy, Gray matter heterotopia OMIM:617201
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
Epilepsy, Familial Focal, With Variable Foci 4
Abnormal autonomic nervous system physiology OMIM:617935
Oculopharyngeal Muscular Dystrophy
Progressive ptosis, Facial palsy OMIM:164300
Multicore Myopathy With Mental Retardation, Short Stature, And Hypogonadotropic Hypogonadism
Facial palsy, Ptosis OMIM:253320
Nodular Neuronal Heterotopia
Abnormality of neuronal migration ORPHA:2149
Orbital Margin, Hypoplasia Of
Lacrimal duct atresia, Congenital extraocular muscle anomaly, Lower eyelid coloboma OMIM:165600
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Ptosis, Epicanthus, Abnormal lacrimal duct morphology, Blepharophimosis, Synophrys ORPHA:126
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral narrow palpebral fissure, Unilateral ptosis OMIM:182875
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Microlissencephaly
Periventricular heterotopia, Simplified gyral pattern, Pachygyria, Polymicrogyria, Subcortical he... ORPHA:1083
Cobblestone Lissencephaly Without Muscular Or Ocular Involvement
Gray matter heterotopia, Optic atrophy, Type II lissencephaly, Dysgyria ORPHA:352682
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616323
Isolated Lissencephaly Type 1 Without Known Genetic Defects
Gray matter heterotopia, Pachygyria, Agyria ORPHA:1084
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Fibrosis Of Extraocular Muscles, Congenital, 3C
Highly arched eyebrow, Congenital bilateral ptosis, Congenital fibrosis of extraocular muscles OMIM:609384
Sub-Cortical Nodular Heterotopia
Abnormality of neuronal migration, Polymicrogyria, Subcortical heterotopia ORPHA:101029
Lissencephaly 3
Pachygyria, Polymicrogyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:611603
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
Highly arched eyebrow, Abnormal cranial nerve morphology, Ptosis, Thick eyebrow, Blepharophimosis... ORPHA:2057
Periventricular Heterotopia With Microcephaly, Autosomal Recessive
Periventricular nodular heterotopia, Periventricular heterotopia OMIM:608097
Mental Retardation, Autosomal Dominant 30
Ptosis OMIM:616083
Periventricular Nodular Heterotopia 8
Periventricular nodular heterotopia OMIM:618185
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis OMIM:616326
Aganglionosis, Total Intestinal
Total intestinal aganglionosis OMIM:202550
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis OMIM:300928
Band Heterotopia
Gray matter heterotopia, Subcortical band heterotopia, Polymicrogyria OMIM:600348
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Narrow palpebral fissure, Aganglionic megacolon, Ptosis, Epicanthus, Downslanted palpebral fissures OMIM:613603
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Adult-onset autosomal dominant leukodystrophy (ADLD)
Abnormal autonomic nervous system physiology DECIPHER:59
Waardenburg Syndrome Type 2
Aganglionic megacolon, Telecanthus, Ptosis ORPHA:895
Fazio-Londe Disease
Facial diplegia, Ptosis OMIM:211500
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:616325
Myasthenic Syndrome, Congenital, 12
Facial palsy, Ptosis OMIM:610542
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Facial palsy, Ptosis OMIM:616324
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Facial palsy, Ptosis OMIM:617069
Hypertrichosis Cubiti
Ptosis, Downslanted palpebral fissures, Abnormal eyelid morphology, Abnormal nasolacrimal system ... ORPHA:2220
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Simplified gyral pattern, Ptosis OMIM:616681
Cortical Dysplasia, Complex, With Other Brain Malformations 10
Lissencephaly, Periventricular ribbonlike heterotopia OMIM:618677
Lissencephaly 5
Gray matter heterotopia, Optic atrophy, Subcortical band heterotopia, Type II lissencephaly OMIM:615191
Periventricular Nodular Heterotopia 1
Abnormality of neuronal migration, Gray matter heterotopia, Patent ductus arteriosus OMIM:300049
Craniosynostosis 3
Ptosis OMIM:615314
Insulin-Like Growth Factor I Deficiency
Ptosis OMIM:608747
Chudley-Mccullough Syndrome
Gray matter heterotopia, Polymicrogyria OMIM:604213
Cluster Headache, Familial
Ptosis OMIM:119915
Hemimegalencephaly
Optic atrophy, Abnormal neuron morphology, Pachygyria, Polymicrogyria, Gray matter heterotopia ORPHA:99802
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Ptosis, Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital f... OMIM:600638
Amyotrophy, Hereditary Neuralgic
Ptosis, Upslanted palpebral fissure, Epicanthus, Brachial plexus neuropathy, Blepharophimosis OMIM:162100
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Facial palsy, Ptosis OMIM:616322
Myasthenic Syndrome, Congenital, 10
Facial palsy, Ptosis OMIM:254300
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Neurodevelopmental Disorder With Nonspecific Brain Abnormalities And With Or Without Seizures
Abnormality of neuronal migration OMIM:618709
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Ptosis, Abnormal autonomic nervous system physiology OMIM:243180
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... OMIM:135700
Myasthenic Syndrome, Congenital, 21, Presynaptic
Facial palsy, Ptosis OMIM:617239
Ring Chromosome 1 Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Facial palsy, Ptosis OMIM:616313
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Downslanted palpebral fissures, Ptosis OMIM:615476
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Bilateral Striopallidodentate Calcinosis
Abnormality of neuronal migration ORPHA:1980
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Facial palsy, Ptosis OMIM:615156
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
Myasthenic Syndrome, Congenital, 19
Facial palsy, Ptosis OMIM:616720
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Facial palsy, Ptosis OMIM:300580
Leber Congenital Amaurosis
Abnormality of neuronal migration, Abnormality of the optic disc ORPHA:65
Mismatch Repair Cancer Syndrome 4
Gray matter heterotopia OMIM:619101
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ptosis ORPHA:2743
Congenital Muscular Dystrophy Without Intellectual Disability
Gray matter heterotopia, Pachygyria, Facial diplegia ORPHA:370980
Orthostatic Hypotension 1
Orthostatic hypotension, Ptosis OMIM:223360
Goldberg-Shprintzen Megacolon Syndrome
Pachygyria, Sparse and thin eyebrow, Aganglionic megacolon, Ptosis ORPHA:66629
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Thick eyebrow, Ptosis OMIM:606242
Purpura Simplex
Ptosis OMIM:179000
Mental Retardation, Autosomal Dominant 13
Abnormality of neuronal migration, Pachygyria, Downslanted palpebral fissures OMIM:614563
Ascher Syndrome
Upper eyelid edema, Abnormal eyelid morphology, Blepharophimosis, Ptosis ORPHA:1253
Neonatal Adrenoleukodystrophy
Abnormality of neuronal migration, Optic atrophy, Ptosis ORPHA:44
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 6
Abnormality of neuronal migration, Pachygyria, Facial palsy OMIM:608840
Myasthenic Syndrome, Congenital, 16
Ptosis OMIM:614198
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Facial palsy, Ptosis OMIM:607684
Rare Non-Syndromic Intellectual Disability
Polymicrogyria, Ptosis ORPHA:101685
Mental Retardation, Autosomal Dominant 29
Synophrys, Downslanted palpebral fissures, Ptosis OMIM:616078
Chromosome 8Q21.11 Deletion Syndrome
Ptosis, Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Blepharophimosis OMIM:614230
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Symmetrical Thalamic Calcifications
Abnormality of neuronal migration ORPHA:1314
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Maternal Hyperthermia-Induced Birth Defects
Abnormality of neuronal migration ORPHA:2216
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis, Abnormal autonomic nervous system physiology OMIM:618049
Lissencephaly 6 With Microcephaly
Almond-shaped palpebral fissure, Microlissencephaly, Periventricular heterotopia, Simplified gyra... OMIM:616212
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Downslanted palpebral fissures, Simplified gyral pattern, Gray matter heterotopia,... OMIM:615219
Char Syndrome
Highly arched eyebrow, Thick eyebrow, Ptosis OMIM:169100
Riboflavin Transporter Deficiency
Optic disc pallor, Abnormal cranial nerve morphology, Ptosis, Facial palsy, Abnormal autonomic ne... ORPHA:97229
Coffin-Siris Syndrome 8
Thick eyebrow, Long eyelashes, Ptosis OMIM:618362
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Optic atrophy, Perisylvian polymicrogyria, Ptosis OMIM:615663
Autosomal Recessive Primary Microcephaly
Gray matter heterotopia, Pachygyria, Upslanted palpebral fissure ORPHA:2512
Progressive Hemifacial Atrophy
Ptosis ORPHA:1214
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Optic atrophy, Bilateral ptosis ORPHA:329314
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Thick eyebrow, Frontalis muscle weakness, Blepharophimosis, Synophrys OMIM:210745
Mental Retardation, Autosomal Dominant 26
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures, Short palpebral fissure, Thick eye... OMIM:615834
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Ptosis ORPHA:171706
3-Hydroxyisobutyric Aciduria
Abnormality of neuronal migration OMIM:236795
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Ptosis OMIM:120433
Myopathy, Centronuclear, 1
Facial palsy, Ptosis OMIM:160150
Frias Syndrome
Downslanted palpebral fissures, Ptosis OMIM:609640
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Facial diplegia, Downslanted palpebral fissures, Abnormal anterior horn cell morphology, ... OMIM:611890
Mental Retardation, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Blepharophimosis, Ptosis OMIM:606772
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:617523
Fibrosis Of Extraocular Muscles, Congenital, 2
Bilateral ptosis, Congenital fibrosis of extraocular muscles OMIM:602078
Tetrasomy 18P
Abnormality of neuronal migration, Epicanthus, Downslanted palpebral fissures ORPHA:3307
Spinal Muscular Atrophy, X-Linked 2
Degeneration of anterior horn cells, Facial palsy, Ptosis OMIM:301830
Segawa Syndrome, Autosomal Recessive
Ptosis OMIM:605407
Mungan Syndrome
Bilateral ptosis, Abnormality of the autonomic nervous system OMIM:611376
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Joubert Syndrome
Abnormality of neuronal migration, Highly arched eyebrow, Aganglionic megacolon, Ptosis, Polymicr... ORPHA:475
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Ptosis, Telecanthus, Long palpebral fissure, Pachygyria, Lissencephaly OMIM:614583
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Ptosis OMIM:125250
Myopathy, Congenital, Bailey-Bloch
Ptosis, Telecanthus, Downslanted palpebral fissures, Short palpebral fissure, Blepharophimosis OMIM:255995
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Ptosis OMIM:608930
Whistling Face Syndrome, Recessive Form
Ptosis, Telecanthus, Epicanthus, Short palpebral fissure, Blepharophimosis OMIM:277720
Facial Paresis, Hereditary Congenital, 3
Facial palsy, Epicanthus, Ptosis OMIM:614744
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Aganglionic megacolon, Ptosis, Telecanthus, Downslanted palpebral fissures... OMIM:609460
Parkinson Disease 4, Autosomal Dominant
Orthostatic hypotension, Abnormal autonomic nervous system physiology OMIM:605543
Proximal Xq28 Duplication Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:1762
Cholestasis With Gallstone, Ataxia, And Visual Disturbance
Optic atrophy, Bilateral ptosis OMIM:214980
Mental Retardation, Autosomal Dominant 57
Ptosis, Upslanted palpebral fissure, Telecanthus, Epicanthus, Blepharophimosis OMIM:618050
Autosomal Recessive Chorioretinopathy-Microcephaly Syndrome
Abnormality of neuronal migration, Optic atrophy, Abnormal eyelash morphology ORPHA:2518
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Ptosis, Telecanthus, Sparse eyebrow, Epicanthus, Thick eyebrow OMIM:617268
Ophthalmoplegia, Familial Static
Ptosis OMIM:165000
Li-Ghorbani-Weisz-Hubshman Syndrome
Periventricular heterotopia, Upslanted palpebral fissure, Epicanthus, Telecanthus, Patent ductus ... OMIM:618974
Salih Myopathy
Facial palsy, Ptosis OMIM:611705
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis OMIM:616154
Warburg Micro Syndrome 1
Optic atrophy, Perisylvian polymicrogyria, Ptosis OMIM:600118
Ohdo Syndrome, X-Linked
Blepharophimosis, Ptosis OMIM:300895
Joubert Syndrome With Oculorenal Defect
Abnormality of neuronal migration, Highly arched eyebrow, Aganglionic megacolon, Ptosis ORPHA:2318
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent lacrimal punctum, Ptosis, Telecanthus, Absent eyelashes, Thick eyebrow ORPHA:228396
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Ptosis OMIM:618238
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Ptosis OMIM:221320
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis OMIM:618637
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis ORPHA:438178
Polymicrogyria Due To Tubb2B Mutation
Perisylvian polymicrogyria, Pachygyria, Polymicrogyria, Gray matter heterotopia, Lissencephaly ORPHA:300573
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
Iatrogenic Botulism
Orthostatic hypotension, Ptosis ORPHA:254509
Short Tarsus With Absence Of Lower Eyelashes
Absent lower eyelashes, Hypoplasia of the lower eyelids OMIM:600269
Isolated Congenital Alacrima
Ptosis, Lacrimal punctal atresia, Distichiasis, Lacrimal gland hypoplasia, Conjunctivitis ORPHA:91416
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis ORPHA:1875
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Ptosis, Epicanthus, Simplified gyral pattern, Pachygyria, Synophrys OMIM:617062
Cataract, Aberrant Oral Frenula, And Growth Retardation
Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Blepharophimosis OMIM:115645
Joubert Syndrome 30
Gray matter heterotopia, Ptosis OMIM:617622
Joubert Syndrome 26
Ptosis OMIM:616784
Adult Intestinal Botulism
Ptosis ORPHA:178487
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Myasthenic Syndrome, Congenital, 22
Ptosis OMIM:616224
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Non-Distal Monosomy 10Q
Upslanted palpebral fissure, Synophrys, Epicanthus, Ptosis ORPHA:1581
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Ptosis OMIM:608931
Oculocerebrocutaneous Syndrome
Gray matter heterotopia, Eyelid coloboma, Orbital cyst OMIM:164180
Waardenburg Syndrome Type 1
Aganglionic megacolon, Ptosis, Telecanthus, White eyelashes, Thick eyebrow, White eyebrow, Synophrys ORPHA:894
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis, Synophrys ORPHA:1390
Frontoocular Syndrome
Ptosis, Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Blepharophimosis OMIM:605321
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Optic atrophy, Epicanthus, Patent ductus arteriosus, Ptosis OMIM:618164
Legius Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:611431
Brain Small Vessel Disease 2
Subcortical heterotopia, Polymicrogyria OMIM:614483
Ohdo Syndrome
Sparse and thin eyebrow, Epicanthus, Blepharophimosis, Ptosis OMIM:249620
Spinocerebellar Ataxia 28
Ptosis OMIM:610246
Acromelic Frontonasal Dysostosis
Ptosis, Periventricular nodular heterotopia, Telecanthus, Downslanted palpebral fissures, Gray ma... OMIM:603671
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Bilateral ptosis ORPHA:330050
Autosomal Dominant Spastic Ataxia Type 1
Abnormal eyelid morphology, Ptosis ORPHA:251282
Shashi-Pena Syndrome
Highly arched eyebrow, Ptosis OMIM:617190
Dysplastic Cortical Hyperostosis
Abnormality of neuronal migration ORPHA:2204
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Ptosis, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, Syn... OMIM:300590
Peroxisome Biogenesis Disorder 13A (Zellweger)
Abnormality of neuronal migration OMIM:614887
Hypomelanosis Of Ito
Gray matter heterotopia, Epicanthus OMIM:300337
Charcot-Marie-Tooth Disease With Ptosis And Parkinsonism
Orthostatic hypotension, Degeneration of anterior horn cells, Decreased nerve conduction velocity... OMIM:118301
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Ptosis OMIM:615895
Prieto X-Linked Mental Retardation Syndrome
Epicanthus, Ptosis OMIM:309610
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Bilateral ptosis, Downslanted palpebral fissures OMIM:618859
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ptosis OMIM:618226
Borjeson-Forssman-Lehmann Syndrome
Narrow palpebral fissure, Blepharophimosis, Ptosis OMIM:301900
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Combined Oxidative Phosphorylation Deficiency 7
Facial diplegia, Optic atrophy, Ptosis OMIM:613559
Cardiofaciocutaneous Syndrome 4
Ptosis, Optic nerve hypoplasia, Absent eyebrow, Telecanthus, Epicanthus OMIM:615280
11Q22.2Q22.3 Microdeletion Syndrome
Thick eyebrow, Epicanthus, Ptosis ORPHA:444002
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Optic nerve hypoplasia, Downslanted palpebral fissures, Ptosis OMIM:618736
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Gray matter heterotopia, Type II lissencephaly, Optic nerve dysplasia OMIM:615287
Acalvaria
Abnormality of neuronal migration ORPHA:945
Meckel Syndrome, Type 10
Narrow palpebral fissure, Epicanthus, Ptosis OMIM:614175
Disproportionate Short Stature With Ptosis And Valvular Heart Lesions
Ptosis OMIM:126190
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Ptosis, Downslanted palpebral fiss... ORPHA:2211
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Long eyelashes, Ptosis OMIM:619076
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Blepharophimosis, Ptosis ORPHA:397973
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Ptosis OMIM:601462
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Li-Campeau Syndrome
Thick eyebrow, Telecanthus, Downslanted palpebral fissures, Ptosis OMIM:619189
Meier-Gorlin Syndrome 8
Ptosis OMIM:617564
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Palpebral edema, Ptosis ORPHA:1259
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Ptosis OMIM:619422
Trisomy 5P
Ptosis ORPHA:1742
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Ptosis ORPHA:401768
Hartsfield Syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Au-Kline Syndrome
Sparse lateral eyebrow, Downslanted palpebral fissures, Long palpebral fissure, Ptosis OMIM:616580
Spinocerebellar Ataxia, Autosomal Recessive 8
Ptosis OMIM:610743
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis ORPHA:1825
Myopathy, Proximal, With Ophthalmoplegia
Ptosis OMIM:605637
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Ptosis OMIM:615911
Leigh Syndrome With Leukodystrophy
Optic atrophy, Ptosis ORPHA:255241
Mitochondrial Complex I Deficiency, Nuclear Type 4
Ptosis OMIM:618225
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Optic atrophy, Ptosis OMIM:251900
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Walker-Warburg Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Optic atrophy, Pachygyria, Macrogy... ORPHA:899
Mitochondrial Dna Depletion Syndrome 11
Facial palsy, Ptosis OMIM:615084
Subependymal Nodular Heterotopia
Abnormality of neuronal migration, Gray matter heterotopia, Polymicrogyria ORPHA:101030
Chromosome 16P13.3 Duplication Syndrome
Upslanted palpebral fissure, Ptosis OMIM:613458
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ptosis OMIM:252011
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Absent brainstem auditory responses, Temporal optic disc pallor, Bilateral ptosis ORPHA:1215
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Downslanted palpebral fissures, Ptosis ORPHA:457365
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Blepharophimosis, Ptosis ORPHA:3236
Lissencephaly Syndrome, Norman-Roberts Type
Abnormality of neuronal migration, 4-layered lissencephaly, Microlissencephaly ORPHA:89844
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Ptosis, Telecanthus, Epicanthus, Optic disc coloboma, Downslanted palpebra... ORPHA:2995
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Optic nerve hypoplasia, Lissencephaly, Pachygyria, Polymicrogyria, Agyria, Subcortical heterotopi... OMIM:614643
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Joubert Syndrome With Renal Defect
Highly arched eyebrow, Aganglionic megacolon, Polymicrogyria, Ptosis ORPHA:220497
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Ptosis ORPHA:1067
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ptosis ORPHA:1933
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:617333
Neurofibromatosis-Noonan Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:638
Thrombocytopenia, Paris-Trousseau Type
Ptosis OMIM:188025
Congenital Ptosis
Congenital bilateral ptosis, Telecanthus, Long eyelashes, Congenital Horner syndrome, Unilateral ... ORPHA:91411
Edinburgh Malformation Syndrome
Abnormality of neuronal migration, Synophrys ORPHA:1895
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Ptosis OMIM:617664
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Epicanthus inversus, Highly arched eyebrow, Upslanted palpebral fissure, Ptosis ORPHA:2988
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Facial palsy, Ptosis ORPHA:254886
Chromosome 5Q12 Deletion Syndrome
Long palpebral fissure, Ptosis OMIM:615668
Noonan Syndrome 11
Downslanted palpebral fissures, Ptosis OMIM:618499
Radio-Tartaglia Syndrome
Highly arched eyebrow, Narrow palpebral fissure, Upslanted palpebral fissure, Epicanthus, Downsla... OMIM:619312
Mcdonough Syndrome
Synophrys, Ptosis, Short palpebral fissure ORPHA:2471
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Ptosis OMIM:618170
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Facial di... OMIM:218000
Terminal Osseous Dysplasia
Telecanthus, Epicanthus, Ptosis OMIM:300244
Chromosome 2P16.1-P15 Deletion Syndrome
Ptosis, Optic nerve hypoplasia, Telecanthus, Epicanthus, Downslanted palpebral fissures, Short pa... OMIM:612513
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Epicanthus, Blepharophimosis, Synophrys OMIM:613792
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Leigh Syndrome
Optic atrophy, Hepatocellular necrosis, Ptosis OMIM:256000
Dermoodontodysplasia
Abnormal eyelid morphology, Ptosis ORPHA:1660
Kosaki Overgrowth Syndrome
Downslanted palpebral fissures, Ptosis OMIM:616592
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Juberg-Hayward Syndrome
Highly arched eyebrow, Ptosis OMIM:216100
Mosaic Trisomy 14
Blepharophimosis, Ptosis ORPHA:1703
Diabetes Mellitus, Permanent Neonatal, 2
Bilateral ptosis OMIM:618856
Intellectual Developmental Disorder, Autosomal Dominant 23
Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis, Synophrys OMIM:615761
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis OMIM:619527
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ptosis ORPHA:52503
Frontofacionasal Dysplasia
Limbal dermoid, Upper eyelid coloboma, Ptosis, Telecanthus, Absent inner eyelashes, Aplasia/Hypop... ORPHA:1791
Congenital Osteogenesis Imperfecta-Microcephaly-Cataracts Syndrome
Abnormality of neuronal migration ORPHA:2772
Myopathy, Centronuclear, 2
Facial palsy, Ptosis OMIM:255200
Mental Retardation, Autosomal Recessive 65
Downslanted palpebral fissures, Ptosis OMIM:618109
Waardenburg Syndrome
Aganglionic megacolon, Ptosis, Telecanthus, Abnormal eyebrow morphology, Synophrys ORPHA:3440
Man1B1-Cdg
Periventricular heterotopia, Long eyelashes, Epicanthus, Downslanted palpebral fissures, Sparse e... ORPHA:397941
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Rhyns Syndrome
Ptosis ORPHA:140976
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:157835
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Ptosis, Epicanthus, Patent ductus arteriosus, Long palpebral fissure, Pach... OMIM:243310
Myopathy, Congenital, With Fiber-Type Disproportion
Facial palsy, Ptosis OMIM:255310
Distal Trisomy 15Q
Blepharophimosis, Downslanted palpebral fissures, Ptosis ORPHA:1707
Brachydactyly, Type A1, With Short Stature, Scoliosis, Microcephaly, Ptosis, Hearing Loss, And Mental Retardation
Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:613627
Hypotonia-Cystinuria Syndrome
Long eyelashes, Facial palsy, Ptosis OMIM:606407
Desmosterolosis
Abnormality of neuronal migration, Abnormal cortical gyration, Epicanthus, Downslanted palpebral ... ORPHA:35107
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Ptosis ORPHA:93262
Spinocerebellar Ataxia-Dysmorphism Syndrome
Optic atrophy, Epicanthus, Ptosis ORPHA:1185
9Q21.13 Microdeletion Syndrome
Gray matter heterotopia, Long palpebral fissure, Ptosis ORPHA:531151
Orofaciodigital Syndrome Xvi
Gray matter heterotopia, Ptosis, Short palpebral fissure OMIM:617563
Congenital Myopathy With Myasthenic-Like Onset
Ptosis ORPHA:424107
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Ptosis ORPHA:363429
Joubert Syndrome 35
Highly arched eyebrow, Telecanthus, Ptosis, Synophrys OMIM:618161
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Pachygyria, Polymicrogyria, Long palpebral fissure, Ptosis OMIM:603387
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Optic nerve hypoplasia, Polymicrogyria, Gray matter heterotopia, Type II lissencep... ORPHA:370959
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Ptosis OMIM:618155
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Mental Retardation, Buenos Aires Type
Curly eyelashes, Long eyelashes, Downslanted palpebral fissures, Ptosis OMIM:249630
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Narrow palpebral fissure, Sparse eyelashes, Ptosis, Epicanthus, Sparse eye... OMIM:619293
Joubert Syndrome With Ocular Defect
Highly arched eyebrow, Aganglionic megacolon, Polymicrogyria, Ptosis ORPHA:220493
Coffin-Siris Syndrome 5
Thick eyebrow, Long eyelashes, Ptosis OMIM:616938
Macrocephaly And Epileptic Encephalopathy
Downslanted palpebral fissures, Ptosis OMIM:606369
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Ptosis ORPHA:521411
Multiple System Atrophy 1, Susceptibility To
Orthostatic hypotension, Ptosis, Abnormal autonomic nervous system physiology OMIM:146500
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Upslanted palpebral fissure, Epicanthus, Ptosis, Short palpebral fissure OMIM:617360
Thanatophoric Dysplasia
Gray matter heterotopia, Downslanted palpebral fissures, Patent ductus arteriosus ORPHA:2655
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Visual Impairment And Progressive Phthisis Bulbi
Ptosis OMIM:618283
Acrocraniofacial Dysostosis
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Ptosis OMIM:201050
Crouzon Disease
Optic atrophy, Ptosis, Conjunctivitis ORPHA:207
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation
Bilateral ptosis, Optic nerve hypoplasia, Epicanthus, Downslanted palpebral fissures, Simplified ... ORPHA:300570
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Ptosis, Long eyelashes, Telecanthus, Synophrys OMIM:300882
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Ptosis, Periventricular nodular heterotopia, Upslanted palpebral fissure, Epicanthus, Downslanted... OMIM:618659
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Upslanted palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:145420
Neuropathy, Congenital Hypomyelinating, 3
Facial diplegia, Epicanthus, Ptosis OMIM:618186
Van Maldergem Syndrome 1
Subcortical band heterotopia, Ptosis, Periventricular nodular heterotopia, Epicanthus, Simplified... OMIM:601390
Bachmann-Bupp Syndrome
Sparse eyelashes, Ptosis, Absent eyebrow, Downslanted palpebral fissures, Focal polymicrogyria, B... OMIM:619075
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Ptosis OMIM:610539
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Polymicrogyria, Ptosis OMIM:618731
Myasthenia Gravis
Facial palsy, Ptosis OMIM:254200
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis OMIM:312170
Widow'S Peak Syndrome
Ptosis OMIM:314570
Myopathy With Extrapyramidal Signs
Optic atrophy, Perisylvian polymicrogyria, Epicanthus, Ptosis OMIM:615673
Cerebral Palsy, Spastic Quadriplegic, 3
Gray matter heterotopia OMIM:617008
Marcus-Gunn Syndrome
Unilateral ptosis, Abnormal fifth cranial nerve morphology ORPHA:91412
Tetrasomy 12P
Sparse and thin eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis ORPHA:884
Neu-Laxova Syndrome
Abnormality of neuronal migration, Abnormal cortical gyration, Abnormal eyelid morphology, Pachyg... ORPHA:2671
Carey-Fineman-Ziter Syndrome
Facial palsy, Downslanted palpebral fissures, Epicanthus, Ptosis OMIM:254940
Pyruvate Dehydrogenase E2 Deficiency
Ptosis OMIM:245348
Myasthenic Syndrome, Congenital, 24, Presynaptic
Ptosis OMIM:618198
Machado-Joseph Disease
Ptosis, Abnormal autonomic nervous system physiology OMIM:109150
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Ptosis, Long eyelashes, Downslanted palpebral fissures, Patent ductus arte... OMIM:615009
Congenital Disorder Of Glycosylation, Type Iio
Downslanted palpebral fissures, Ptosis OMIM:616828
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Epicanthus, Upslanted palpebral fissure, Synophrys OMIM:616351
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Optic atrophy, Facial palsy, Ptosis OMIM:258450
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Telecanthus, Downslanted palpebral fissures, Epicanthus, Ptosis ORPHA:1778
Congenital Myasthenic Syndromes With Glycosylation Defect
Facial palsy, Ptosis ORPHA:353327
3C Syndrome
Abnormality of neuronal migration, Optic atrophy, Downslanted palpebral fissures ORPHA:7
Minicore Myopathy With External Ophthalmoplegia
Facial palsy, Ptosis OMIM:255320
Childhood-Onset Nemaline Myopathy
Facial diplegia, Ptosis ORPHA:171439
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Ptosis OMIM:615433
Noonan Syndrome 9
Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:616559
Hengel-Maroofian-Schols Syndrome
Thick eyebrow, Epicanthus, Ptosis, Synophrys OMIM:619641
Fetal Trimethadione Syndrome
Epicanthus, Ptosis, Synophrys ORPHA:1913
Developmental And Epileptic Encephalopathy 84
Ptosis, Epicanthus, Short palpebral fissure, Blepharophimosis, Synophrys OMIM:618792
Poretti-Boltshauser Syndrome
Gray matter heterotopia OMIM:615960
Plectin-Related Limb-Girdle Muscular Dystrophy R17
Bilateral ptosis, Bilateral facial palsy ORPHA:254361
Combined Oxidative Phosphorylation Deficiency 24
Optic atrophy, Facial palsy, Ptosis OMIM:616239
Thanatophoric Dysplasia Type 2
Abnormality of neuronal migration, Patent ductus arteriosus ORPHA:93274
Perlman Syndrome
Epicanthus, Ptosis ORPHA:2849
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis OMIM:210700
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Decreased sensory nerve conduction velocity, Abnormali... ORPHA:298
Arthrogryposis, Distal, Type 5
Epicanthus, Blepharophimosis, Ptosis OMIM:108145
Joubert Syndrome 8
Optic disc pallor, Ptosis OMIM:612291
Joubert Syndrome 14
Highly arched eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:614424
Brown-Vialetto-Van Laere Syndrome 1
Facial palsy, Cranial nerve motor loss, Ptosis OMIM:211530
Vici Syndrome
Gray matter heterotopia, Optic atrophy ORPHA:1493
Oculopharyngodistal Myopathy 3
Ptosis OMIM:619473
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Broad eyebrow, Ptosis, Epicanthus, Blepharophimosis ORPHA:494344
Hadziselimovic Syndrome
Epicanthus, Ptosis OMIM:612946
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Ptosis OMIM:616479
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis
Optic atrophy, Periventricular heterotopia OMIM:618476
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616449
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Ptosis OMIM:618098
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Ptosis OMIM:614261
Aniridia-Absent Patella Syndrome
Ptosis ORPHA:1069
Joubert Syndrome 3
Highly arched eyebrow, Epicanthus, Ptosis OMIM:608629
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Ptosis ORPHA:275872
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Highly arched eyebrow, Lacrimal gland aplasia, Ectopic lacrimal punctum, Ectropion, Ptosis, Telec... ORPHA:572333
Wagr Syndrome
Ptosis ORPHA:893
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis OMIM:619566
Pseudo-Torch Syndrome 2
Gray matter heterotopia, Polymicrogyria, Patent ductus arteriosus OMIM:617397
Freeman-Sheldon Syndrome
Downslanted palpebral fissures, Ptosis ORPHA:2053
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Optic atrophy, Ptosis OMIM:609037
Joubert Syndrome With Hepatic Defect
Abnormality of neuronal migration, Highly arched eyebrow, Optic disc coloboma, Ptosis ORPHA:1454
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Ptosis OMIM:212112
Alkuraya-Kucinskas Syndrome
Gray matter heterotopia, Upslanted palpebral fissure, Lissencephaly OMIM:617822
Coach Syndrome 3
Ptosis OMIM:619113
Keipert Syndrome
Epicanthus, Ptosis ORPHA:2662
Van Maldergem Syndrome 2
Subcortical band heterotopia, Ptosis, Periventricular nodular heterotopia, Epicanthus, Short palp... OMIM:615546
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Ptosis OMIM:617143
Neuromuscular Oculoauditory Syndrome
Decreased amplitude of sensory action potentials, Epicanthus, Decreased nerve conduction velocity... OMIM:618733
Sunct Syndrome
Conjunctival hyperemia, Palpebral edema, Ptosis ORPHA:57145
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Facial palsy, Downslanted palpebral fissures, Ptosis ORPHA:3068
Mcdonough Syndrome
Upslanted palpebral fissure, Ptosis, Synophrys OMIM:248950
Myopathy, Congenital, Progressive, With Scoliosis
Ptosis OMIM:618578
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Optic atrophy, Ptosis, Lacrimal duct stenosis, Epicanthus, Patent ductus arteriosus ORPHA:457193
Periventricular Nodular Heterotopia
Patent ductus arteriosus, Periventricular heterotopia ORPHA:98892
Coffin-Lowry Syndrome
Abnormality of neuronal migration, Optic atrophy, Epicanthus, Downslanted palpebral fissures ORPHA:192
Acrofrontofacionasal Dysostosis
Aplasia/Hypoplasia of the eyebrow, Eyelid coloboma, Downslanted palpebral fissures, Ptosis ORPHA:1784
Combined Oxidative Phosphorylation Deficiency 47
Ptosis OMIM:618958
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis OMIM:614831
Cntnap2-Related Developmental And Epileptic Encephalopathy
Abnormality of neuronal migration, Downslanted palpebral fissures, Abnormal neuron morphology ORPHA:163681
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Intellectual Developmental Disorder, X-Linked 12
Abnormality of neuronal migration OMIM:300957
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Sparse and thin eyebrow, Lacrimal duct stenosis, Downslanted palpebral fissures, Ptosis ORPHA:73246
Combined Oxidative Phosphorylation Deficiency 33
Ptosis OMIM:617713
Combined Oxidative Phosphorylation Deficiency 12
Ptosis OMIM:614924
Postsynaptic Congenital Myasthenic Syndromes
Facial palsy, Ptosis ORPHA:98913
4Q21 Microdeletion Syndrome
Long eyelashes, Ptosis, Synophrys ORPHA:238750
Fragile X Syndrome
Periventricular heterotopia OMIM:300624
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Downslanted palpebral fissures, Ptosis ORPHA:442835
Distal Trisomy 6P
Blepharophimosis, Abnormal eyelash morphology, Ptosis ORPHA:1745
Pterygium Colli And Mental Retardation With Facial And Digital Anomalies
Epicanthus inversus, Upslanted palpebral fissure, Ptosis OMIM:600159
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Blepharophimosis, Downslanted palpebral fissures, Ptosis ORPHA:391372
Wolfram Syndrome 1
Optic atrophy, Ptosis, Neurogenic bladder OMIM:222300
King-Denborough Syndrome
Bilateral ptosis, Downslanted palpebral fissures, Ptosis OMIM:619542
Nager Syndrome
Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lower eyelashes, Aplasia/Hy... ORPHA:245
Leukodystrophy, Hypomyelinating, 20
Ptosis OMIM:619071
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Gray matter heterotopia, Thick eyebrow, Horizontal eyebrow OMIM:618797
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Ptosis OMIM:300352
Frontonasal Dysplasia 1
Epicanthus, Ptosis OMIM:136760
Spinocerebellar Ataxia With Dysmorphism
Ptosis OMIM:271270
Peroxisome Biogenesis Disorder 1A (Zellweger)
Optic disc pallor, Upslanted palpebral fissure, Epicanthus, Patent ductus arteriosus, Polymicrogy... OMIM:214100
Juberg-Hayward Syndrome
Highly arched eyebrow, Abnormal eyebrow morphology, Ptosis ORPHA:2319
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Optic atrophy, Ptosis ORPHA:137898
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Ptosis OMIM:618451
Spinocerebellar Ataxia 47
Ptosis OMIM:617931
Muenke Syndrome
Downslanted palpebral fissures, Ptosis OMIM:602849
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Richieri-Costa/Guion-Almeida Syndrome
Eyelid coloboma, Downslanted palpebral fissures, Ptosis OMIM:268850
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis OMIM:613561
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis OMIM:617468
Takenouchi-Kosaki Syndrome
Optic atrophy, Highly arched eyebrow, Ptosis, Upslanted palpebral fissure, Sparse eyebrow, Downsl... OMIM:616737
Autosomal Dominant Optic Atrophy, Classic Form
Optic atrophy, Temporal optic disc pallor, Ptosis ORPHA:98673
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:616801
Visceral Myopathy, Familial, With External Ophthalmoplegia
Ptosis OMIM:277320
Noonan Syndrome 5
Epicanthus, Downslanted palpebral fissures, Sparse eyebrow, Ptosis OMIM:611553
Microcephalic Primordial Dwarfism, Montreal Type
Ptosis ORPHA:2617
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormal autonomic nervous system physiology, Ptosis, Long palpebral fissure, Gray matter heterot... ORPHA:453499
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Broad lateral eyebrow, Epicanthus, Ptosis OMIM:608624
Noonan Syndrome 8
Epicanthus, Downslanted palpebral fissures, Patent ductus arteriosus, Ptosis OMIM:615355
Thymic Tumor
Palpebral edema, Ptosis ORPHA:100100
Wieacker-Wolff Syndrome
Upslanted palpebral fissure, Facial palsy, Ptosis OMIM:314580
Lymphedema-Hypoparathyroidism Syndrome
Telecanthus, Ptosis OMIM:247410
Autosomal Recessive Dopa-Responsive Dystonia
Ptosis ORPHA:101150
X-Linked Mandibulofacial Dysostosis
Aplasia/Hypoplasia of the eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:1131
2P15P16.1 Microdeletion Syndrome
Optic atrophy, Ptosis, Optic nerve hypoplasia, Facial palsy, Telecanthus, Epicanthus, Downslanted... ORPHA:261349
Buratti-Harel Syndrome
Sparse medial eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:619314
Mesomelia-Synostoses Syndrome
Telecanthus, Downslanted palpebral fissures, Abnormal eyebrow morphology, Ptosis ORPHA:2496
Blepharophimosis, Ptosis, And Epicanthus Inversus
Highly arched eyebrow, Ptosis, Telecanthus, Epicanthus inversus, Blepharophimosis OMIM:110100
Aarskog-Scott Syndrome
Epicanthus, Downslanted palpebral fissures, Ptosis ORPHA:915
Weiss-Kruszka Syndrome
Highly arched eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:618619
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Ptosis OMIM:613077
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
16Q24.3 Microdeletion Syndrome
Highly arched eyebrow, Optic nerve hypoplasia, Upslanted palpebral fissure, Periventricular heter... ORPHA:261250
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Facial diplegia, Ptosis OMIM:612073
Noonan Syndrome 13
Highly arched eyebrow, Broad eyebrow, Almond-shaped palpebral fissure, Ptosis, Epicanthus, Downsl... OMIM:619087
Arthrogryposis, Distal, Type 2A
Abnormal auditory evoked potentials, Ptosis, Telecanthus, Epicanthus, Blepharophimosis OMIM:193700
Cree Mental Retardation Syndrome
Downslanted palpebral fissures, Ptosis OMIM:606851
Spastic Ataxia 5, Autosomal Recessive
Ptosis OMIM:614487
Chromosome 19Q13.11 Deletion Syndrome, Distal
Sparse eyelashes, Ptosis, Sparse eyebrow, Long palpebral fissure, Short palpebral fissure, Blepha... OMIM:613026
Holoprosencephaly
Abnormality of neuronal migration, Optic atrophy, Highly arched eyebrow, Ptosis, Upslanted palpeb... ORPHA:2162
Glycogen Storage Disease Xii
Epicanthus, Ptosis OMIM:611881
Agel Amyloidosis
Keratoconjunctivitis sicca, Orthostatic hypotension due to autonomic dysfunction, Bilateral ptosi... ORPHA:85448
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Synophrys, Telecanthus, Downslanted palpebral fissures, Periventricular heterotopia OMIM:618929
Acrofrontofacionasal Dysostosis 1
Optic atrophy, Ptosis, Long eyelashes, S-shaped palpebral fissures, Long eyebrows OMIM:201180
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Facial palsy, Ptosis OMIM:610131
Miller-Dieker Lissencephaly Syndrome
Upslanted palpebral fissure, Epicanthus, Pachygyria, Agyria, Gray matter heterotopia, Lissencephaly OMIM:247200
Helsmoortel-Van Der Aa Syndrome
Eyelid coloboma, Narrow palpebral fissure, Downslanted palpebral fissures, Ptosis OMIM:615873
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Ptosis ORPHA:2511
Jackson-Weiss Syndrome
Ptosis ORPHA:1540
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Abnormality of neuronal migration ORPHA:2063
Thanatophoric Dysplasia, Type I
Gray matter heterotopia OMIM:187600
Combined Oxidative Phosphorylation Defect Type 7
Facial diplegia, Optic atrophy, Ptosis ORPHA:254930
Axial Spondylometaphyseal Dysplasia
Optic atrophy, Ptosis ORPHA:168549
Intestinal Botulism
Ptosis ORPHA:178481
Short Stature And Facioauriculothoracic Malformations
Ptosis OMIM:609654
Wieacker-Wolff Syndrome, Female-Restricted
Facial palsy, Ptosis OMIM:301041
Toxin-Mediated Infectious Botulism
Ptosis ORPHA:230800
Cardiac Valvular Dysplasia, X-Linked
Ptosis OMIM:314400
Aniridia 1
Bilateral ptosis, Optic nerve hypoplasia, Polymicrogyria, Ptosis OMIM:106210
Deafness, Onychodystrophy, Osteodystrophy, Mental Retardation, And Seizures Syndrome
Optic atrophy, Epicanthus, Patent ductus arteriosus, Ptosis OMIM:220500
Myoclonus, Intractable, Neonatal
Ptosis OMIM:617235
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Ptosis OMIM:615351
Typical Nemaline Myopathy
Facial diplegia, Facial palsy, Ptosis ORPHA:171436
Craniosynostosis 6
Ptosis OMIM:616602
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis OMIM:616549
Holoprosencephaly 4
Ptosis OMIM:142946
Noonan Syndrome 4
Ptosis, Bilateral ptosis, Epicanthus, Downslanted palpebral fissures, Sparse eyebrow OMIM:610733
Frontofacionasal Dysplasia
Ptosis, Ankyloblepharon, Telecanthus, Absent inner eyelashes, S-shaped palpebral fissures, Eyelid... OMIM:229400
Pyruvate Dehydrogenase E1-Beta Deficiency
Pachygyria, Periventricular heterotopia ORPHA:255138
3Mc Syndrome
Highly arched eyebrow, Ptosis, Telecanthus, Downslanted palpebral fissures, Epicanthus inversus, ... ORPHA:293843
Aase-Smith Syndrome I
Ptosis OMIM:147800
Microphthalmia, Isolated, With Coloboma 9
Narrow palpebral fissure, Ptosis OMIM:615145
Joubert Syndrome 7
Ptosis OMIM:611560
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Ptosis ORPHA:352447
Fountain Syndrome
Thick eyebrow, Epicanthus, Ptosis, Synophrys ORPHA:3219
Oculocerebrocutaneous Syndrome
Eyelid coloboma, Polymicrogyria, Ptosis ORPHA:1647
Rubinstein-Taybi Syndrome
Highly arched eyebrow, Ptosis, Telecanthus, Downslanted palpebral fissures, Epicanthus, Nasolacri... ORPHA:783
Proboscis Lateralis
Abnormality of the ocular adnexa, Abnormality of bony orbit of skull, Ptosis, Optic nerve hypopla... ORPHA:141099
Neurocutaneous Melanocytosis
Abnormality of neuronal migration ORPHA:2481