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 |
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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 |
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Upslanted palpebral fissure, Ptosis |
OMIM:186500 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
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Sparse eyebrow, Synophrys, Ptosis |
OMIM:309583 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Ptosis |
OMIM:309520 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
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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 |
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Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Sparse lateral eyebrow |
ORPHA:235 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Ptosis |
OMIM:272950 |
Chromosome 16P13.3 Duplication Syndrome |
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Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr... |
OMIM:613458 |
Autosomal Dominant Progressive External Ophthalmoplegia |
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Facial diplegia, Facial palsy, Ptosis |
ORPHA:254892 |
Hunter-Macdonald Syndrome |
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Patent ductus arteriosus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure,... |
OMIM:611962 |
Autosomal Dominant Robinow Syndrome |
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Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal... |
ORPHA:3107 |
Myasthenia Gravis |
|
Ptosis |
ORPHA:589 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
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Epicanthus, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
ORPHA:369950 |
Loeys-Dietz Syndrome 5 |
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Long palpebral fissure, Downslanted palpebral fissures, Ptosis |
OMIM:615582 |
Duane Retraction Syndrome |
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Blepharophimosis, Blepharospasm, Short palpebral fissure, Ptosis |
ORPHA:233 |
17Q24.2 Microdeletion Syndrome |
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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 |
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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 |
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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 |
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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 |
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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 |
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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 |