| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Oculomotor-Levator Synkinesis |
|
Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis |
OMIM:620086 |
| Marcus Gunn Phenomenon |
|
Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Megalocornea, Persistent pupillary membrane |
OMIM:178900 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Anterior Segment Dysgenesis 8 |
|
Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the... |
OMIM:617319 |
| Chronic Myeloid Leukemia |
|
Splenomegaly, Leukocytosis, Abnormal granulocyte morphology, Myeloproliferative disorder, Thrombo... |
ORPHA:521 |
| Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis |
ORPHA:1067 |
| Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
| Fibrosis Of Extraocular Muscles, Congenital, 5 |
|
Ptosis |
OMIM:616219 |
| Ptosis, Strabismus, And Ectopic Pupils |
|
Ptosis |
OMIM:178330 |
| Eosinophil Peroxidase Deficiency |
|
Eosinophil nuclear hypersegmentation |
OMIM:261500 |
| X-Linked Corneal Dermoid |
|
Abnormal pupil morphology, Corneal opacity |
ORPHA:1661 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Anterior Segment Dysgenesis 3 |
|
Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post... |
OMIM:601631 |
| Riboflavin Transporter Deficiency |
|
Optic disc pallor, Ptosis, Iris hypopigmentation, Facial palsy, Tremor, Abnormal autonomic nervou... |
ORPHA:97229 |
| Winchester Syndrome |
|
Corneal opacity, Osteolysis involving tarsal bones, Carpal osteolysis, Broad metacarpals, Hirsutism |
OMIM:277950 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Microphthalmia, Isolated, With Coloboma 10 |
|
Microcoria, Iris coloboma, Chorioretinal coloboma |
OMIM:616428 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Ptosis |
OMIM:618049 |
| Iris Pigment Epithelium Anomalies |
|
Iris cyst |
OMIM:601616 |
| Cataract 50 With Or Without Glaucoma |
|
Cataract, Persistent pupillary membrane |
OMIM:620253 |
| Nevoid Hypermelanosis, Linear And Whorled |
|
Eosinophilia |
OMIM:614323 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Sparse scalp hair, Postural hypotension with compensatory tachycardia, Autoamputation of digits, ... |
OMIM:256800 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Ptosis, Facial palsy, Progressive ptosis |
OMIM:164300 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Erythrokeratodermia Variabilis |
|
Alopecia, Cataract, Corneal opacity, Hypermelanotic macule, Tapered finger, Abnormal hair morphol... |
ORPHA:317 |
| Exfoliation Syndrome |
|
Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab... |
OMIM:177650 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Cataract, Slow-growing hair, Abnormality of hair texture,... |
ORPHA:170 |
| Ophthalmoplegia, Familial Static |
|
Anisocoria, Ptosis |
OMIM:165000 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Myasthenic Syndrome, Congenital, 15 |
|
Ptosis |
OMIM:616227 |
| Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
| 2p15-16.1 microdeletion syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Acral ulceration, Abnormal autonomic nervous system ph... |
ORPHA:139578 |
| Myasthenic Syndrome, Congenital, 8 |
|
Ptosis |
OMIM:615120 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior embryotoxon, Iris col... |
ORPHA:1473 |
| Mitchell Syndrome |
|
Hyporeflexia of upper limbs, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Persistent Idiopathic Facial Pain |
|
Abnormal autonomic nervous system physiology |
ORPHA:398147 |
| Ectopia Lentis Et Pupillae |
|
Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Persistent pupillary m... |
OMIM:225200 |
| Iridocorneal Endothelial Syndrome |
|
Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ... |
ORPHA:64734 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ptosis |
OMIM:616330 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmentation of hair, Telecanthus, Aganglionic megacolon, Hypopigmented skin patches, Prematu... |
ORPHA:895 |
| Myasthenic Syndrome, Congenital, 13 |
|
Ptosis |
OMIM:614750 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Tremor, Optic atrophy, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:329284 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Corneal opacity, Abnormal pelvic girdle bone morphology, Hip dysplasia, Abnormal metacarpal morph... |
ORPHA:2370 |
| Woolly Hair Nevus |
|
Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ... |
ORPHA:79414 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Abnormal anterior horn cell morphology, Single transverse palmar crease, Rocker bottom foot, Pauc... |
OMIM:611890 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Facial palsy, Ptosis |
OMIM:617732 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Corneal opacity, Corneal dystrophy, Band keratopathy |
OMIM:300779 |
| Aniridia 1 |
|
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... |
OMIM:106210 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:610743 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology |
ORPHA:101082 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal opacity, Corneal dystrophy |
OMIM:609140 |
| Sclerosteosis |
|
Finger syndactyly, Facial palsy, Optic atrophy, 2-3 finger syndactyly, Curved distal phalanges of... |
ORPHA:3152 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal cranial nerve morphology, Ptosis |
OMIM:258470 |
| Corneal Dystrophy, Posterior Amorphous |
|
Ectopia pupillae, Iris coloboma, Corneal dystrophy |
OMIM:612868 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:1490 |
| Ophthalmomandibulomelic Dysplasia |
|
Corneal opacity, Camptodactyly of finger, Micromelia, Elbow dislocation, Radioulnar dislocation, ... |
ORPHA:2741 |
| Terminal Osseous Dysplasia |
|
Syndactyly, Ptosis, Epicanthus, Telecanthus, Camptodactyly of finger, Abnormal hand bone ossifica... |
OMIM:300244 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
Monocytosis, B lymphocytopenia, Neutropenia |
OMIM:613107 |
| Ophthalmoplegia, External, And Myopia |
|
Chorioretinal degeneration, Spina bifida, Ptosis |
OMIM:311000 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... |
OMIM:122000 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Cataract-Microcornea Syndrome |
|
Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma |
ORPHA:1377 |
| Gómez-López-Hernández Syndrome |
|
Toenail dysplasia, Telecanthus, Alopecia of scalp, Corneal opacity |
ORPHA:1532 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monocytosis, Neutropenia, Thr... |
OMIM:202700 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Postural tremor, Abnormal autonomic nervous system physiology, Au... |
ORPHA:102 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal opacity, Corneal dystrophy |
ORPHA:3177 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Hand muscle atrophy, Decreased distal sensory nerve ac... |
OMIM:607684 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
Epicanthus, 2-3 toe syndactyly, Horizontal eyebrow, Clinodactyly, Ptosis |
OMIM:619311 |
| Short Syndrome |
|
Posterior embryotoxon, Alopecia, Corneal opacity, Telecanthus, Abnormal pupil morphology, Hypopla... |
ORPHA:3163 |
| Unilateral Ocular Duplication |
|
Encephalocele, Abnormal eyebrow morphology, Abnormal pupil morphology, Microcornea, Blepharophimo... |
ORPHA:3374 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Interphalangeal joint contracture of finger, Preaxial hand polydactyly, Widow's peak, Sparse hair... |
OMIM:606242 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Harel-Yoon Syndrome |
|
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Hip dysplasi... |
OMIM:617183 |
| Mucolipidosis Iv |
|
Optic atrophy, Corneal opacity, Opacification of the corneal stroma, Dystonia |
OMIM:252650 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Postural tremor, Abnormal autonomic nervous system physiology, Au... |
ORPHA:98933 |
| Myxopapillary Ependymoma |
|
Autonomic bladder dysfunction |
ORPHA:251643 |
| Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease |
|
Unilateral ptosis, Unilateral narrow palpebral fissure |
OMIM:182875 |
| Oculomaxillofacial Dysostosis |
|
Corneal opacity, Camptodactyly of finger, Abnormal eyelid morphology, Abnormal eyelash morphology... |
ORPHA:1794 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Cataract, Ptosis |
ORPHA:1373 |
| Arthrogryposis, Distal, Type 7 |
|
Metatarsus adductus, Hip dislocation, Cutaneous syndactyly of toes, Hammertoe, Talipes equinovaru... |
OMIM:158300 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Progressive Hemifacial Atrophy |
|
Heterochromia iridis, Ptosis |
ORPHA:1214 |
| Aplasia Cutis Congenita |
|
Finger syndactyly, Toe syndactyly, Facial palsy, Skin ulcer |
ORPHA:1114 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Hyperconvex nail, Tapered finger, Interphalangeal thumb joint contracture,... |
OMIM:613870 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Microphthalmia, Syndromic 13 |
|
Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis |
OMIM:300915 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Unilateral ptosis, Clinodactyly, Optic atrophy |
OMIM:300928 |
| Stuve-Wiedemann Syndrome 1 |
|
Single transverse palmar crease, Femoral bowing, Tibial bowing, Blotching pigmentation of the ski... |
OMIM:601559 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, Myopic ast... |
OMIM:152950 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:243180 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata |
OMIM:609141 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Postural tremor, Abnormal autonomic nervous system physiology, Au... |
ORPHA:227510 |
| Bartsocas-Papas Syndrome |
|
Finger syndactyly, Toe syndactyly, Corneal opacity, Alopecia totalis, Aplasia/Hypoplasia of the d... |
ORPHA:1234 |
| Duane Retraction Syndrome |
|
Aplasia/Hypoplasia of the thumb, Central heterochromia, Abnormal pupil morphology, Microcornea, A... |
ORPHA:233 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Abnormal pupil morphology, Aganglionic megacolon |
ORPHA:2151 |
| Arthrogryposis, Distal, Type 2B3 |
|
Hallux valgus, Ptosis, Ulnar deviation of the hand, Talipes equinovarus, Camptodactyly, Overlappi... |
OMIM:618436 |
| Glaucoma 3, Primary Congenital, D |
|
Corneal opacity, Primary congenital glaucoma, Ectopia lentis |
OMIM:613086 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Cataract, Broad hallux, Sandal gap, Scarring alopecia of scalp, Optic atrophy, Unilateral narrow ... |
OMIM:618727 |
| Immunodeficiency 60 And Autoimmunity |
|
Splenomegaly, Pancytopenia, Decreased proportion of memory B cells, Decreased basophil count |
OMIM:618394 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ptosis |
OMIM:609283 |
| Hidrotic Ectodermal Dysplasia |
|
Slow-growing nails, Palmoplantar hyperkeratosis, Absent pubic hair, Sparse hair, Absent eyebrow, ... |
ORPHA:189 |
| Obesity Due To Sim1 Deficiency |
|
Postural hypotension with compensatory tachycardia, Abnormal autonomic nervous system physiology |
ORPHA:369873 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Ulnar deviation of the hand, Corneal opacity, Wrist swelling, Osteolysis involving tarsal bones, ... |
OMIM:166300 |
| Posterior Polymorphous Corneal Dystrophy |
|
Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm... |
ORPHA:98973 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Ectopia lentis |
OMIM:110150 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Cataract, Corneal opacity, Sclerocornea, Coxa valga, Elbow dislocation, M... |
ORPHA:2557 |
| Microcoria, Congenital |
|
Microcoria, Hypoplasia of the iris dilator muscle |
OMIM:156600 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Highly arched eyebrow, Synophrys, Abnormal cranial nerve morphology, Blepharophimosis, Thick eyeb... |
ORPHA:2057 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Telecanthus, Simplified gyral pattern, Ptosis |
OMIM:616681 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Short foot, Small hand, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:617903 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis, Dystonia |
OMIM:108600 |
| Posttransplant Acute Limbic Encephalitis |
|
Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:163921 |
| Cornelia De Lange Syndrome 2 |
|
Ptosis, Thick eyebrow, Highly arched eyebrow, Limited elbow movement, Proximal placement of thumb... |
OMIM:300590 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Abnormality of retinal pigmentation, Ptosis, Epicanthus, Down-sloping shoulders, Synophrys, Downs... |
ORPHA:1390 |
| Leprosy |
|
Absent eyebrow, Alopecia, Autoamputation of digits, Abnormality of the seventh cranial nerve, Los... |
ORPHA:548 |
| Bartsocas-Papas Syndrome 2 |
|
2-5 finger cutaneous syndactyly, Corneal opacity, Small hand, Antecubital pterygium, Ankyloblepha... |
OMIM:619339 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Hypertrichosis Cubiti |
|
Rhizomelia, Abnormal nasolacrimal system morphology, Micromelia, Abnormal eyelid morphology, Abno... |
ORPHA:2220 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Alopecia, Cataract, Corneal opacity, Congenital abnormal hair pattern, Tapered finger, Spotty hyp... |
ORPHA:1867 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Epicanthus, Cataract, Sparse eyelashes, Broad long bones, Fifth finger distal phalanx clinodactyl... |
OMIM:257850 |
| Dermatoosteolysis, Kirghizian Type |
|
Tarsal synostosis, Abnormality of the hand, Keratitis, Skin ulcer, Abnormal diaphysis morphology,... |
ORPHA:1657 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Low posterior hairline, Astigmatism, Long... |
OMIM:617523 |
| Char Syndrome |
|
Patent ductus arteriosus, Thick eyebrow, Highly arched eyebrow, Ptosis |
OMIM:169100 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ectopia lentis, Palpebral edema, Iris coloboma, Ptosis |
ORPHA:1259 |
| Warburg Micro Syndrome 1 |
|
Ptosis, Overlapping toe, Optic atrophy, Developmental cataract, Microcornea, Facial hypertrichosi... |
OMIM:600118 |
| Chilblain Lupus 1 |
|
Autoamputation of digits, Abnormality of the nail, Skin ulcer |
OMIM:610448 |
| Mucolipidosis Type Iii |
|
Large iliac wing, Corneal opacity, Abnormal hip bone morphology, Hypoplastic inferior ilia |
ORPHA:577 |
| Ramos-Arroyo Syndrome |
|
Sparse scalp hair, Aganglionic megacolon, Keratitis, Dacryocystitis, Chorioretinal atrophy, Nasol... |
ORPHA:1051 |
| Moebius Syndrome |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Facial palsy,... |
ORPHA:570 |
| Megalocornea |
|
Iridodonesis, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Iris transillumination d... |
OMIM:309300 |
| Waardenburg Syndrome Type 1 |
|
Hypopigmentation of hair, White eyelashes, Aganglionic megacolon, White eyebrow, Telecanthus, Abn... |
ORPHA:894 |
| Trisomy 20P |
|
Finger syndactyly, Epicanthus, Thick hair, Highly arched eyebrow, Camptodactyly of finger, Preaxi... |
ORPHA:261318 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Distal upper limb muscle weakness, Claw hand deformity... |
OMIM:605285 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Neutrophilia, Eosinophilia, Splenomegaly, Leukocytosis... |
ORPHA:98849 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Papilledema, Optic disc pallor, Iris atrophy, Cataract, Anis... |
ORPHA:263479 |
| Alexander Disease |
|
Microcoria, Hydrocephalus |
OMIM:203450 |
| Multiple Sulfatase Deficiency |
|
Abnormality of retinal pigmentation, Thick eyebrow, Cataract, Corneal opacity, Broad hallux phala... |
ORPHA:585 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Orthostatic hypotension, Optic atrophy, Palmoplantar hyperkeratosis, Anisocoria, Abnormal autonom... |
OMIM:231550 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Hallux valgus, Telecanthus, Cone-shaped epiphyses of the 3rd toe, Hyperopic astigmatism, Blepharo... |
ORPHA:397973 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Epicanthus, Tapered finger, Almond-shaped palpebral fissure, Synophrys, 2-3 toe syndactyly, Hand ... |
ORPHA:589905 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon, Ptosis |
OMIM:619465 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly hair, Brittle hair, Corneal opacity, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Spa... |
OMIM:602400 |
| Lattice Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc... |
ORPHA:98964 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Multiple System Atrophy 1, Susceptibility To |
|
Iris atrophy, Orthostatic hypotension, Tremor, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:146500 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Blepharophimosis, Telecanthus, Hyperopic astigmatism, Ptosis |
OMIM:606772 |
| Iatrogenic Botulism |
|
Orthostatic hypotension, Mydriasis, Ptosis |
ORPHA:254509 |
| Classic Mycosis Fungoides |
|
Alopecia, Abnormal eyelid morphology, Erythema, Hypopigmented skin patches, Skin ulcer, Irregular... |
ORPHA:2584 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Torticollis, Epicanthus, Optic nerve hypoplasia, Metatarsus adductus, Bilateral ptosis, Small han... |
ORPHA:300570 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:300894 |
| Cataract 21, Multiple Types |
|
Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent cataract, Peters anomaly, I... |
OMIM:610202 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Vestibular areflexia, Decreased distal sensory nerve action potential, Abnormal autonomic nervous... |
OMIM:614575 |
| Oculocerebrocutaneous Syndrome |
|
Finger syndactyly, Alopecia, Congenital hip dislocation, Abnormal fingernail morphology, Corneal ... |
ORPHA:1647 |
| Ring Chromosome 1 Syndrome |
|
Telecanthus, Abnormal hair pattern, Clinodactyly of the 5th finger, Downslanted palpebral fissure... |
ORPHA:1437 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Oculogyric crisis, Tremor, Bilateral ptosis, Optic atrophy, Dystonia |
ORPHA:330050 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Telecanthus, Redundant neck skin, Corneal opacity, Optic nerve hypoplasia, Rocker bottom foot, Co... |
OMIM:301056 |
| X-Linked Recessive Ocular Albinism |
|
Abnormal pupil morphology, Astigmatism, Ocular albinism, Iris hypopigmentation |
ORPHA:54 |
| Trismus-Pseudocamptodactyly Syndrome |
|
Ptosis |
ORPHA:3377 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Ptosis, Brachydactyly, Epicanthus, Hyperpigmentation of the skin, Small hand, Short foot, Clinoda... |
ORPHA:444002 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Arachnodactyly, Optic atrophy, Deviation of finger, Bilateral talipes equinovarus, Congenital fin... |
ORPHA:1154 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Ivory epiphyses, Abnormality of retinal pigmentation, Short metacarpal, Bowing of the long bones,... |
ORPHA:85167 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Cataract, Highly arched eyebrow, Ptosis |
OMIM:616154 |
| Frontofacionasal Dysplasia |
|
Encephalocele, Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Upper eyelid coloboma, ... |
ORPHA:1791 |
| Trisomy 9P |
|
Brachydactyly, Bilateral single transverse palmar creases, Hypoplastic toenails, Abnormal pupil m... |
ORPHA:236 |
| Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Finger syndactyly, Epicanthus, Proximal placement of thumb, Abnormal thumb morphology, Hypopigmen... |
ORPHA:1825 |
| Hec Syndrome |
|
Communicating hydrocephalus, Abnormal pupil morphology, Developmental cataract |
ORPHA:2119 |
| Erythermalgia, Primary |
|
Keratoconjunctivitis sicca, Abnormal autonomic nervous system physiology |
OMIM:133020 |
| Fazio-Londe Disease |
|
Facial diplegia, Ptosis |
OMIM:211500 |
| Arthrogryposis, Distal, Type 5 |
|
Keratoconus, Abnormality of retinal pigmentation, Epicanthus, Arachnodactyly, Decreased palmar cr... |
OMIM:108145 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Ptosis |
OMIM:618197 |
| Proteus-Like Syndrome |
|
Communicating hydrocephalus, Cataract, Hydrocephalus, Abnormal pupil morphology, Limbal dermoid, ... |
ORPHA:2969 |
| Autism, Susceptibility To, X-Linked 6 |
|
Ptosis |
OMIM:300872 |
| Tetanus |
|
Tremor, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction, Opisthotonus |
ORPHA:3299 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Autoamputation of digits, Acral ulceration, Intrinsic hand muscle atrophy |
OMIM:614213 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Tremor, Optic atrophy, Choreoathetosis, Dystonia, Clinodactyly of the 5th finger, Ptosis |
OMIM:619422 |
| Thiel-Behnke Corneal Dystrophy |
|
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio... |
ORPHA:98960 |
| Hurler-Scheie Syndrome |
|
Abnormal nerve conduction velocity, Corneal opacity, Generalized hirsutism |
ORPHA:93476 |
| Whistling Face Syndrome, Recessive Form |
|
Epicanthus, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Ulnar deviation... |
OMIM:277720 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Bilateral ptosis, Cataract, Optic atrophy |
ORPHA:329314 |
| Multiple Synostoses Syndrome 1 |
|
Single transverse palmar crease, Symphalangism affecting the phalanges of the hand, Cutaneous fin... |
OMIM:186500 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Sandal gap, Postaxial polydactyly, Synophrys, Low anterior hairline, Upslanted palpebral fissure,... |
OMIM:615761 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse scalp hair, Finger syndactyly, Aganglionic megacolon, Sparse eyebrow, Iris coloboma, Ptosis |
ORPHA:66629 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arthralgia of the hip |
ORPHA:314652 |
| Acrogeria |
|
Small hand, Skin ulcer, Fine hair, Short foot, Excessive wrinkled skin, Irregular hyperpigmentation |
ORPHA:2500 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Coarse metaphyseal trabecularization, Corneal opacity, Metaphyseal widening, Squared iliac bones,... |
OMIM:618961 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Juvenile cataract, Highly arched eyebrow, Ptosis |
ORPHA:438178 |
| Free Sialic Acid Storage Disease |
|
Skin ulcer, Abnormality of skin pigmentation, Athetosis, Abnormality of the upper limb, Iris hypo... |
ORPHA:834 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Upslanted palpebral fissure, Hi... |
ORPHA:496790 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Shortening of all middle phalanges of the fingers, Tapered finger, Short toe, Shortening of all d... |
OMIM:301900 |
| Segawa Syndrome, Autosomal Recessive |
|
Tremor, Ptosis, Limb dystonia |
OMIM:605407 |
| 2Q23.1 Microduplication Syndrome |
|
Broad hallux, Sandal gap, Highly arched eyebrow, Abnormality of the hand, Bilateral ptosis, Low a... |
ORPHA:313947 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Ptosis |
ORPHA:1875 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Tapered finger, Decreased nerve conduction velocity, T... |
OMIM:218000 |
| 8Q21.11 Microdeletion Syndrome |
|
Finger syndactyly, Ptosis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Epic... |
ORPHA:284160 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea... |
OMIM:608470 |
| Norrie Disease |
|
Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallo... |
OMIM:310600 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Corneal opacity, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Downslanted palpeb... |
OMIM:602562 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Congenital ptosis |
OMIM:254190 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Developmental cataract, Ptosis |
ORPHA:330054 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Abnormal autonomic nervous system physiology, Intention tremor, Orthostatic hypotension d... |
OMIM:105210 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Peripheral opacification of the cornea, Metaphyseal widening, Metatarsal osteolysis, Camptodactyl... |
OMIM:259600 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Cataract, Abnormal fingernail morphology, Corneal dystrophy, Sclerocornea, Skin ulcer, Fine hair,... |
ORPHA:1806 |
| Adult Syndrome |
|
Sparse scalp hair, Alopecia, Absent nipple, Finger syndactyly, Toe syndactyly, Breast hypoplasia,... |
ORPHA:978 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Proximal muscle weakness in upper limbs, Cataract, Decreased distal sensory nerve action potentia... |
ORPHA:99956 |
| Neurotrophic Keratopathy |
|
Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem... |
ORPHA:137596 |
| Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Curly hair, Cataract, Sparse eyelashes, Optic nerve hypoplasia, Epicanthus, Telec... |
OMIM:615280 |
| Muenke Syndrome |
|
Ptosis, Broad hallux, Capitate-hamate fusion, Low anterior hairline, Cone-shaped epiphyses of the... |
OMIM:602849 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... |
OMIM:221900 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Absent brainstem auditory responses, Torticollis, White eyelashes, Aganglionic megacolon, White e... |
OMIM:609136 |
| Machado-Joseph Disease |
|
Ptosis, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:109150 |
| Ophthalmomandibulomelic Dysplasia |
|
Radial bowing, Coxa valga, Elbow dislocation, Ulnar deviated club hands, Fibular hypoplasia, Radi... |
OMIM:164900 |
| Prieto Syndrome |
|
Epicanthus, Coxa valga, Talipes equinovarus, Radial deviation of finger, Clinodactyly, Ptosis |
OMIM:309610 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Distal Deletion 6P |
|
Posterior embryotoxon, Epicanthus, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of... |
ORPHA:96125 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Cataract, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anisocoria, Congenital fi... |
ORPHA:45358 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Abnormal eyelash morphology, Sparse e... |
ORPHA:2399 |
| Inherited Creutzfeldt-Jakob Disease |
|
Tremor, Vestibular nystagmus, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Keipert Syndrome |
|
Unilateral ptosis, Broad hallux, Absent toenail, Broad distal phalanx of finger, Camptodactyly, C... |
OMIM:301026 |
| Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Brachydactyly, Ptosis, Telecanthus, Micromelia, Abnormality of the h... |
ORPHA:2496 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Resting tremor, Abnormal cranial nerve morphology, Abnormal autonomic nervous system physiology, ... |
ORPHA:247234 |
| Autosomal Recessive Cutis Laxa Type 2A |
|
Congenital hip dislocation, Corneal opacity, Thick hair, Athetosis, Abnormal cornea morphology, E... |
ORPHA:357058 |
| Phacoanaphylactic Uveitis |
|
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... |
ORPHA:209959 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Torticollis, Postural tremor, Ptosis |
OMIM:619862 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Postural tremor, Optic atrophy, Autonomic bladder dysfunction, Dystonia, Intention tremor |
ORPHA:447896 |
| Acro-Renal-Ocular Syndrome |
|
Microcornea, Triphalangeal thumb, Chorioretinal coloboma, Iris coloboma, Hypoplasia of the ulna, ... |
ORPHA:959 |
| Familial Multiple Nevi Flammei |
|
Hypermelanotic macule, Skin ulcer, Abnormality of the upper limb, Irregular hyperpigmentation, Ab... |
ORPHA:624 |
| Frontonasal Dysplasia 1 |
|
Ptosis, Epicanthus, Cataract, Widow's peak, Postaxial hand polydactyly, Pectoral muscle hypoplasi... |
OMIM:136760 |
| Atopic Keratoconjunctivitis |
|
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... |
ORPHA:163934 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Patent ductus arteriosus, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the an... |
OMIM:602482 |
| Juvenile Hyaline Fibromatosis |
|
Abnormal hair morphology, Abnormal diaphysis morphology, Skin ulcer |
ORPHA:2028 |
| Dermoodontodysplasia |
|
Sparse scalp hair, Abnormal eyelid morphology, Melanocytic nevus, Fingernail dysplasia, Trichodys... |
ORPHA:1660 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunct... |
ORPHA:97355 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased motor nerve conduction velocity, Cataract, Hand tremor, Acral ulceration, Decreased sen... |
OMIM:162400 |
| Noonan Syndrome 13 |
|
Ptosis, Epicanthus, Overlapping toe, Highly arched eyebrow, Tapered finger, Metatarsus adductus, ... |
OMIM:619087 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... |
OMIM:135700 |
| Stickler Syndrome, Type Vi |
|
Astigmatism, Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Choreoathetosis, Ptosis, Optic atrophy, Dystonia |
OMIM:618238 |
| Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimosis, Ptosis |
OMIM:162100 |
| Brooke-Spiegler Syndrome |
|
Skin appendage neoplasm, Facial palsy, Skin ulcer, Trichoepithelioma, Cylindroma, Nodular changes... |
ORPHA:79493 |
| Arthrogryposis, Distal, Type 1A |
|
Hip contracture, Ptosis, Congenital hip dislocation, Overlapping toe, Single transverse palmar cr... |
OMIM:108120 |
| Non-Epidermolytic Palmoplantar Keratoderma |
|
Diffuse palmoplantar hyperkeratosis, Erythema, Skin ulcer |
ORPHA:2337 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Epicanthus, Cataract, Rhizomelia, Sclerocornea, 2-3 toe syndactyly, Microcornea, Ectopia pupillae... |
OMIM:615877 |
| Olmsted Syndrome 1 |
|
Subungual hyperkeratosis, Autoamputation of digits, Corneal opacity, Palmoplantar keratoderma, Na... |
OMIM:614594 |
| Axial Spondylometaphyseal Dysplasia |
|
Cataract, Iliac crest serration, Proximal femoral metaphyseal irregularity, Optic atrophy, Upper ... |
ORPHA:168549 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Congenital hip dislocation, Micromelia, Bowing of the legs, Metaphyseal widening, Coxa vara, Micr... |
OMIM:255800 |
| Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
| Intestinal Botulism |
|
Mydriasis, Ptosis |
ORPHA:178481 |
| Craniosynostosis 3 |
|
Hallux valgus, Brachydactyly, Single transverse palmar crease, Low anterior hairline, Ptosis |
OMIM:615314 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Coxa valga, Finger clinodactyly, Bilateral talipes equinovarus, Ptosis |
ORPHA:2958 |
| Carpenter Syndrome 1 |
|
Duplication of the proximal phalanx of the hallux, Microcornea, Clinodactyly of the 5th finger, G... |
OMIM:201000 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Abnormality of peripheral nerve cond... |
ORPHA:35069 |
| Incontinentia Pigmenti |
|
Abnormal hand morphology, Uveitis, Abnormality of skin pigmentation, Abnormal toenail morphology,... |
ORPHA:464 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Abnormal autonomic nervous system physiology, Skin vesic... |
ORPHA:79473 |
| Coffin-Siris Syndrome 5 |
|
Sparse scalp hair, Thick eyebrow, Ptosis, Arachnodactyly, Sandal gap, Hypoplastic toenails, Low a... |
OMIM:616938 |
| Toxin-Mediated Infectious Botulism |
|
Mydriasis, Ptosis |
ORPHA:230800 |
| Parkinson Disease, Late-Onset |
|
Tremor, Resting tremor, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:168600 |
| 2Q31.1 Microdeletion Syndrome |
|
Hypoplastic toenails, Synophrys, Abnormal tibia morphology, Low anterior hairline, Short palm, Cl... |
ORPHA:251014 |
| Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Ptosis |
OMIM:610542 |
| Parkinsonian-Pyramidal Syndrome |
|
Talipes equinovarus, Dystonia, Abnormal autonomic nervous system physiology, Intention tremor |
ORPHA:171695 |
| Isolated Ectopia Lentis |
|
Ectopia pupillae, Cataract, Ectopia lentis |
ORPHA:1885 |
| Spinocerebellar Ataxia 50 |
|
Postural tremor, Action tremor, Head tremor, Froment sign, Ptosis |
OMIM:620158 |
| Myasthenic Syndrome, Congenital, 16 |
|
Bilateral ptosis, Ptosis |
OMIM:614198 |
| Scalp-Ear-Nipple Syndrome |
|
Anisocoria, Clinodactyly of the 5th finger, Sparse hair, Iris coloboma, Finger syndactyly, 2-3 to... |
OMIM:181270 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn... |
ORPHA:171673 |
| Cornelia De Lange Syndrome 5 |
|
Telecanthus, Toe syndactyly, Highly arched eyebrow, Proximal placement of thumb, Synophrys, Low a... |
OMIM:300882 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Ptosis |
ORPHA:171706 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Frontalis muscle weakness, Facial palsy, Ptosis |
OMIM:300580 |
| Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Hypertrichosis, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:618362 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Hypopigmentation of hair, Cataract, Corneal opacity, Arachnodactyly, Ectropion, Abnormal thumb mo... |
ORPHA:2719 |
| Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Kinetic tremor, Head tremor, Dystonia, Ptosis |
ORPHA:101109 |
| Keipert Syndrome |
|
Broad hallux phalanx, Ptosis, Epicanthus, Short hallux, Aplasia/Hypoplasia of the distal phalange... |
ORPHA:2662 |
| Proliferating Trichilemmal Cyst |
|
Sparse scalp hair, Skin ulcer |
ORPHA:492 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Decreased palmar creases, Highly arched eyebrow, Upslanted palpebral fissure, Downsla... |
OMIM:615834 |
| Congenital Sialidosis Type 2 |
|
Cataract, Corneal opacity, Optic atrophy, Developmental cataract, Polydactyly, Generalized hypert... |
ORPHA:93400 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Autoamputation of digits, Distal upper limb muscle wea... |
OMIM:613640 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Abnormal autonomic nervous system physiology, Limb dystonia |
OMIM:616840 |
| Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Tapered finger, Corneal erosion, Synop... |
OMIM:609460 |
| Acrofrontofacionasal Dysostosis |
|
Ptosis, Brachydactyly, Camptodactyly of finger, Micromelia, Brushfield spots, Hypopigmented skin ... |
ORPHA:1784 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Epicanthus, 2-3 toe syndactyly, Facial diplegia, Bilat... |
OMIM:618186 |
| Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Metatarsus adductus, Al... |
OMIM:301069 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Single transverse palmar crease, Metaphyseal widening, Abnormal finger morphology, Megalocornea, ... |
ORPHA:536471 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Hand muscle atrophy, Hand muscle weakness, Decreased nerve conduction velocity, Abnormal pupil mo... |
ORPHA:90658 |
| Sialidosis Type 1 |
|
Decreased nerve conduction velocity, Cataract, Corneal opacity, Tremor |
ORPHA:812 |
| Congenital Rubella Syndrome |
|
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, A... |
ORPHA:290 |
| Pelvis-Shoulder Dysplasia |
|
Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Optic disc coloboma, Hypoplas... |
OMIM:169550 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Hip contracture, Exaggerated startle response, Overlapping toe, Optic atrophy, Hip dislocation, E... |
OMIM:617301 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Brushfield spots, Metatar... |
OMIM:214110 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Abnormality of the autonomic nervous system, Penetrating foot ulcers, Skin ulcer, Decreased ampli... |
ORPHA:36386 |
| Chromosome 16Q12 Duplication Syndrome |
|
Temporal optic disc pallor, Cataract, Anisocoria |
OMIM:619649 |
| Sialidosis Type 2 |
|
Tremor, Corneal opacity |
ORPHA:87876 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Camptodactyly of finger, Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atro... |
OMIM:600638 |
| Zellweger Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Abnormal chorioretinal morphology, Brushfield spots, Optic... |
ORPHA:912 |
| Anterior Segment Dysgenesis 7 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante... |
OMIM:269400 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616325 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Crumpled long bones, Corneal opacity, Metaphyseal widening, Abnormal femoral neck/head morphology... |
ORPHA:2788 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:616322 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Hallux valgus, Ptosis, Epicanthus, Broad hallux, Tapered finger, Long fingers, Short toe, 2-3 toe... |
OMIM:618659 |
| Miller Fisher Syndrome |
|
Anisocoria, Mydriasis, Facial palsy, Ptosis |
ORPHA:98919 |
| Aarskog-Scott Syndrome |
|
Finger syndactyly, Epicanthus, Single transverse palmar crease, Camptodactyly of finger, High ant... |
ORPHA:915 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Lissencephaly, Long palpebral fissure, Pachygyria, Ptosis |
OMIM:614583 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Gm1 Gangliosidosis |
|
Generalized dystonia, Corneal opacity, Camptodactyly of finger, Tremor, Optic atrophy, Abnormal d... |
ORPHA:354 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Tangier Disease |
|
Cicatricial ectropion, Facial diplegia, Nail dystrophy, Nail dysplasia, Opacification of the corn... |
OMIM:205400 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Dermal translucency, Corneal opacity, Hip dislocation, Developmental cataract, Cutis laxa, Talipe... |
OMIM:616603 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Overlapping toe, Highly arched eyebrow, Tremor, Downslanted palpebral fissures, Ptosis |
ORPHA:457365 |
| Li-Campeau Syndrome |
|
Telecanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
OMIM:619189 |
| Aniridia-Absent Patella Syndrome |
|
Aniridia, Cataract, Ptosis |
ORPHA:1069 |
| Alternating Hemiplegia Of Childhood |
|
Tremor, Choreoathetosis, Abnormal autonomic nervous system physiology, Thin eyebrow, Dystonia, Pa... |
ORPHA:2131 |
| Microphthalmia With Brain And Digit Anomalies |
|
Finger syndactyly, Cataract, Sclerocornea, Proximal placement of thumb, Microcornea, Postaxial fo... |
ORPHA:139471 |
| Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Hypopigmentation of hair, Telecanthus, Aganglionic megacolon, Synoph... |
ORPHA:3440 |
| Acrodermatitis Enteropathica |
|
Ridged nail, Abnormal eyebrow morphology, Alopecia, Abnormal eyelid morphology, Corneal erosion, ... |
ORPHA:37 |
| 4Q21 Microdeletion Syndrome |
|
Toe syndactyly, Micromelia, Tremor, Synophrys, Small hand, Short foot, Long eyelashes, Short palm... |
ORPHA:238750 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Ptosis, Synophrys, Cutaneous finger syndactyly, Blepharophimosis, Thick eyebrow, Frontalis muscle... |
OMIM:210745 |
| Oculofaciocardiodental Syndrome |
|
Cataract, Highly arched eyebrow, Ectopia lentis, Short thumb, 2-3 toe syndactyly, Broad palm, Gen... |
ORPHA:2712 |
| Knobloch Syndrome 1 |
|
Occipital encephalocele, Epicanthus, Telecanthus, Optic disc pallor, Band keratopathy, Patent duc... |
OMIM:267750 |
| Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Lobar holoprosencephaly, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Ptosis, Micromelia, Ectropio... |
ORPHA:3258 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Ptosis |
ORPHA:2743 |
| Juberg-Hayward Syndrome |
|
Aplasia/Hypoplasia of the thumb, Highly arched eyebrow, Abnormal toe morphology, Abnormal carpal ... |
OMIM:216100 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Sparse scalp hair, Ptosis, Arachnodactyly, Abnormal fingernail morphology, Cone-shaped epiphysis,... |
ORPHA:2824 |
| Fabry Disease |
|
Abnormal autonomic nervous system physiology, Corneal dystrophy, Abnormality of the hand |
OMIM:301500 |
| Kury-Isidor Syndrome |
|
Finger syndactyly, Alopecia, Brachydactyly, Ptosis, Rocker bottom foot, Proximal placement of thu... |
OMIM:619762 |
| Wild Type Attr Amyloidosis |
|
Autonomic bladder dysfunction, Abnormal autonomic nervous system physiology, Orthostatic hypotens... |
ORPHA:330001 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Ptosis, Brachydactyly, Abnormal thumb morphology, Abnormal metacarpal morphology, Abnormal finger... |
ORPHA:2511 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Decreased compound muscle action potential amplitude, Facial... |
OMIM:301830 |
| Familial Dysautonomia |
|
Orthostatic hypotension, Corneal opacity, Abnormal pupil morphology, Corneal erosion, Optic atrop... |
ORPHA:1764 |
| Uveal Melanoma |
|
Iris melanoma, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Mydriasis |
ORPHA:39044 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Ptosis, Scapular winging, Facial palsy, Hand muscle weakness, Optic atrophy, Action tremor |
ORPHA:254886 |
| Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Toe syndactyly, Highly arched eyebrow, Short thumb, Hypoplasia of th... |
ORPHA:2319 |
| Alpha-Mannosidosis |
|
Bowing of the long bones, Cataract, Corneal opacity, Hip dysplasia, Hypoplastic inferior ilia |
ORPHA:61 |
| Neonatal Adrenoleukodystrophy |
|
Abnormality of retinal pigmentation, Cataract, Bilateral single transverse palmar creases, Optic ... |
ORPHA:44 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Ptosis, Epicanthus, Cataract, Hypoplastic toenails, Optic atrophy, Low anterior hairline, Short 5... |
OMIM:220500 |
| Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
| Prolidase Deficiency |
|
Abnormality of retinal pigmentation, Abnormal fingernail morphology, Arachnodactyly, Erythema, Lo... |
ORPHA:742 |
| Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Athetosis, Ptosis |
OMIM:617235 |
| Chime Syndrome |
|
Epicanthus, Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, ... |
ORPHA:3474 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Sclerocornea, Abnormal eyelid morphology, Low anterior hairline, Upper eyelid coloboma, Coarse ha... |
ORPHA:2095 |
| Ascher Syndrome |
|
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology |
ORPHA:1253 |
| Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Jackson-Weiss Syndrome |
|
Broad hallux phalanx, Toe syndactyly, Short metatarsal, 2-3 toe syndactyly, Symphalangism affecti... |
ORPHA:1540 |
| Keratoendotheliitis Fugax Hereditaria |
|
Keratitis, Conjunctival hyperemia, Opacification of the corneal stroma |
OMIM:148200 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ptosis |
OMIM:617069 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis |
OMIM:616326 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Tremor, Ptosis, Abnormal eyelid morphology, Dystonia |
ORPHA:251282 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Epicanthus, Telecanthus, Sparse eyebrow, Dystonia, Thick eyebrow, Ptosis |
OMIM:617268 |
| Spinocerebellar Ataxia With Epilepsy |
|
Tremor, Ptosis, Optic atrophy, Dystonia |
ORPHA:254881 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Ptosis, Thick eyebrow, Scapular winging, Sandal gap, Single transverse palmar crease, Epicanthus,... |
OMIM:617061 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Talipes equinovarus, Li... |
ORPHA:101150 |
| Focal Dermal Hypoplasia |
|
Abnormal palmar dermatoglyphics, Hypoplasia of the iris, Abnormality of skin pigmentation, Chorio... |
ORPHA:2092 |
| Lichen Planopilaris |
|
Alopecia, Abnormal fingernail morphology, Hypopigmented skin patches, Skin ulcer, Onycholysis, Pt... |
ORPHA:525 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Autoamputation of digits, Decreased nerve conduction velocity, Paronychia, Foot acroosteolysis, O... |
OMIM:201300 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Sparse scalp hair, Ptosis, Epicanthus, Sparse eyelashes, Highly arched eyebrow, Tapered finger, S... |
OMIM:619293 |
| Wagr Syndrome |
|
Aplasia/Hypoplasia of the iris, Cataract, Ptosis |
ORPHA:893 |
| Non-Distal Deletion 10Q |
|
Ptosis, Brachydactyly, Epicanthus, Synophrys, Upslanted palpebral fissure, Clinodactyly of the 5t... |
ORPHA:1581 |
| De Barsy Syndrome |
|
Dermal translucency, Epicanthus, Cataract, Corneal opacity, Congenital hip dislocation, Coxa vara... |
ORPHA:2962 |
| Dyggve-Melchior-Clausen Disease |
|
Epiphyseal dysplasia, Metaphyseal dysplasia, Abnormal pelvis bone morphology, Rhizomelia, Iliac c... |
ORPHA:239 |
| 3Mc Syndrome 3 |
|
Corneal opacity, Highly arched eyebrow, Epicanthus inversus, Preaxial polydactyly, Radioulnar syn... |
OMIM:248340 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Corneal opacity, Developmental cataract |
OMIM:618815 |
| Limited Cutaneous Systemic Sclerosis |
|
Hypopigmented skin patches, Skin ulcer, Abnormality of skin pigmentation, Narrow foramen obturato... |
ORPHA:220402 |
| Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Ptosis, Epicanthus, Blepharophimosis, Elbow dislocation, Fine hair, Abnormal hip bone morphology,... |
ORPHA:3236 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic bladder dysfunction, Autonomic erectile dysfunction, Orthostatic hypotension due to aut... |
OMIM:169500 |
| Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
| Ablepharon Macrostomia Syndrome |
|
Absent eyebrow, Ablepharon, Toe syndactyly, Corneal opacity, Camptodactyly of finger, Abnormal ha... |
ORPHA:920 |
| Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Optic atrophy, Hip dysplasia, Astigmatism, Chorioretinal coloboma, Peters anomaly, Bl... |
ORPHA:494344 |
| Joubert Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Hand polydactyly, Foot polydactyly, Iris co... |
ORPHA:475 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Abnormal shoulder morphology, Clinodactyly of the 5th finger, Phocomelia, Short p... |
OMIM:274000 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Broad toe, Epicanthus, Telecanthus, Rocker bottom foot, Pigmentary retinopathy, Hip dysplasia, Sh... |
OMIM:612582 |
| Wound Botulism |
|
Mydriasis, Ptosis |
ORPHA:178475 |
| Nail-Patella Syndrome |
|
Ridged nail, Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Iliac ho... |
OMIM:161200 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Hip contracture, Scapular winging, Internally rotated shoulders, Elbow flexion contracture, Still... |
OMIM:617468 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Young-Onset Parkinson Disease |
|
Tremor, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:2828 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Wolfram Syndrome 1 |
|
Cataract, Tremor, Optic atrophy, Limited mobility of proximal interphalangeal joint, Pigmentary r... |
OMIM:222300 |
| Cornea Plana 2, Autosomal Recessive |
|
Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness |
OMIM:217300 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Blau Syndrome |
|
Nongranulomatous uveitis, Cataract, Camptodactyly of finger, Band keratopathy, Uveitis, Skin ulce... |
OMIM:186580 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Cataract, Peters anomaly, Hydrocephalus, Buphthalmos, Persistent pupillary membran... |
OMIM:613150 |
| Bartsocas-Papas Syndrome 1 |
|
Cicatricial lagophthalmos, Ankyloblepharon, Hypoplastic iliac wing, Pterygium, Short phalanx of f... |
OMIM:263650 |
| Wieacker-Wolff Syndrome |
|
Facial palsy, Proximal placement of thumb, Hip dislocation, Upslanted palpebral fissure, Palmar h... |
OMIM:314580 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Bilateral ptosis, Astigmatism, Overlapping toe |
OMIM:620021 |
| Joubert Syndrome With Oculorenal Defect |
|
Encephalocele, Aganglionic megacolon, Highly arched eyebrow, Hydrocephalus, Abnormality of neuron... |
ORPHA:2318 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Toe syndactyly, Cataract, Cone-shaped epiphyses of the distal phalanges of the hand, Short palm, ... |
OMIM:618958 |
| Alagille Syndrome |
|
Keratoconus, Corneal dystrophy, Abnormal pupil morphology, Spina bifida occulta, Downslanted palp... |
ORPHA:52 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Hypoplastic toenails, Ptosis, Short distal phalanx of finger, Ulnar deviation of finger |
ORPHA:2013 |
| Ruvalcaba Syndrome |
|
Ptosis, Short metacarpal, Brachydactyly, Micromelia, Proximal placement of thumb, Abnormality of ... |
ORPHA:3121 |
| Gm1-Gangliosidosis, Type Iii |
|
Hypoplastic acetabulae, Flared iliac wing, Opacification of the corneal stroma, Dystonia |
OMIM:230650 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Abnormal auditory evoked potentials, Upper limb postural tremor, Tremor,... |
ORPHA:99027 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Ptosis, Pigmentary retinopathy, Optic atrophy, Dystonia |
OMIM:252011 |
| Proximal Xq28 Duplication Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:1762 |
| Microphthalmia, Isolated, With Coloboma 9 |
|
Sclerocornea, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysgenesis, Iris col... |
OMIM:615145 |
| Legius Syndrome |
|
Inguinal freckling, Epicanthus, Axillary freckling, Low posterior hairline, Freckling, Cafe-au-la... |
OMIM:611431 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Tremor, Ptosis |
OMIM:618637 |
| Agel Amyloidosis |
|
Cataract, Facial palsy, Bilateral ptosis, Dry skin, Cutis laxa, Keratoconjunctivitis sicca, Bleph... |
ORPHA:85448 |
| Anterior Segment Dysgenesis 2 |
|
Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber... |
OMIM:610256 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis, Erlenmeyer flask deformity of the femurs, Intention tremor |
OMIM:610539 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Hand polydactyly, Iris coloboma, Ptosis |
ORPHA:220497 |
| Inhalational Botulism |
|
Mydriasis, Ptosis |
ORPHA:254504 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Abnormal eyelid morphology, Uveitis, Hyperconvex fingernails, Conjunctivitis, Sparse hair, Abnorm... |
ORPHA:2273 |
| Chilblain Lupus |
|
Finger swelling, Skin ulcer |
ORPHA:90280 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Overlapping toe, Blepharophimosis, Sparse eyebrow, Astigmatism, Cutaneous finge... |
OMIM:613026 |
| Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Coffin-Siris Syndrome 2 |
|
Sparse scalp hair, Thick eyebrow, Absent fifth fingernail, Brachydactyly, Sandal gap, Ptosis, Low... |
OMIM:614607 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Ptosis, Resting tremor, Optic atrophy, Dystonia |
ORPHA:401768 |
| Temple-Baraitser Syndrome |
|
Epicanthus, Hypoplastic thumbnail, Delayed phalangeal epiphyseal ossification, Absent nail of hal... |
ORPHA:420561 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Low anterior hairline |
OMIM:613153 |
| Congenital Ptosis |
|
Congenital Horner syndrome, Unilateral ptosis, Telecanthus, Congenital facial diplegia, Epicanthu... |
ORPHA:91411 |
| Joubert Syndrome 26 |
|
Ptosis |
OMIM:616784 |
| Scheie Syndrome |
|
Corneal opacity, Genu valgum |
OMIM:607016 |
| Walker-Warburg Syndrome |
|
Cataract, Corneal opacity, Chorioretinal dysplasia, Optic atrophy, Microcornea, Metatarsus valgus... |
ORPHA:899 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Frontoocular Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:605321 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Hypoplastic pubic ramus, Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand... |
OMIM:609945 |
| Mosaic Trisomy 1 |
|
Long toe, Broad toe, Toe syndactyly, Arachnodactyly, Single transverse palmar crease, Hypoplastic... |
ORPHA:1692 |
| Corneal Dystrophy And Perceptive Deafness |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:217400 |
| Dermatofibrosarcoma Protuberans |
|
Erythema, Skin ulcer |
ORPHA:31112 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Cataract, Tapered finger, Blepharophimosis, Short toe, Abnormal hip bone morphology, Sparse hair,... |
ORPHA:127 |
| Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Edema of the upper limbs, Slow-growing nails, Erythema, Dry skin, All... |
ORPHA:83452 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Cataract, Abnormal eyelash morphology, Fine hair, Blepharophimosis, Dry s... |
ORPHA:1745 |
| Oculopharyngodistal Myopathy 2 |
|
Ptosis |
OMIM:618940 |
| Anterior Segment Dysgenesis 5 |
|
Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypoplasia of the iris, Anteri... |
OMIM:604229 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Hand polydactyly, Foot polydactyly, Iris co... |
ORPHA:220493 |
| Isolated Congenital Alacrima |
|
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... |
ORPHA:91416 |
| Trigeminal Neuralgia |
|
Cranial nerve compression, Allodynia |
ORPHA:221091 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619989 |
| Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Patent ductus arteriosus, Lissencephaly, Chorioretinal colobom... |
OMIM:243310 |
| Keratitis, Hereditary |
|
Keratitis, Opacification of the corneal stroma |
OMIM:148190 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Abnormal hair quantity, Dry skin, Low posterior hairline, Premature graying of hair, Alopecia of ... |
ORPHA:2617 |
| Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Conjunctivitis, Iris coloboma, Ptosis |
ORPHA:207 |
| Necrobiosis Lipoidica |
|
Erythema, Skin ulcer, Abnormality of the hand, Abnormal forearm morphology |
ORPHA:542592 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Short femoral neck, Opacification of the corneal stroma |
OMIM:271630 |
| Acrofrontofacionasal Dysostosis 1 |
|
Iris atrophy, Short metacarpal, Ptosis, Long eyebrows, Widow's peak, Optic atrophy, Long eyelashe... |
OMIM:201180 |
| Noonan Syndrome 5 |
|
Curly hair, Epicanthus, Sparse eyebrow, Dry skin, Fine hair, Multiple lentigines, Small nail, Cub... |
OMIM:611553 |
| Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ptosis |
OMIM:617070 |
| Melkersson-Rosenthal Syndrome |
|
Abnormal autonomic nervous system physiology, Facial palsy |
ORPHA:2483 |
| Rubinstein-Taybi Syndrome |
|
Finger syndactyly, Broad hallux phalanx, Ptosis, Abnormal distal phalanx morphology of finger, Ep... |
ORPHA:783 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Conjunctival hamartoma, Skin ulcer |
ORPHA:312 |
| Flynn-Aird Syndrome |
|
Alopecia, Cataract, Skin ulcer |
ORPHA:2047 |
| Leigh Syndrome |
|
Optic atrophy, Hypertrichosis, Pigmentary retinopathy, Dystonia, Ptosis |
OMIM:256000 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Macrogyria,... |
ORPHA:2995 |
| Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Cataract, Corneal opacity, Optic nerve hypoplasia, Abnor... |
ORPHA:141099 |
| Cardiofaciocutaneous Syndrome |
|
Brittle hair, Redundant skin, Sparse hair, Dystrophic fingernails, Abnormal morphology of ulna, A... |
ORPHA:1340 |
| Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Cataract, Corneal opacity, Generalized hypertrichosis |
ORPHA:93399 |
| Mucopolysaccharidosis, Type Ivb |
|
Corneal opacity, Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bone... |
OMIM:253010 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Anisocoria, Orthostatic hypotension, High anterior hairline, Ptosis |
OMIM:615510 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Syndactyly, Epicanthus, Abnormality of the hand, Low anterior hairline, Upslanted palpebral fissu... |
ORPHA:369891 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Skin ulcer, Micromelia |
ORPHA:296 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Syndactyly, Short metacarpal, Cataract, Epicanthus, Sclerocornea, Pigmentary retinopathy, Downsla... |
OMIM:614230 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
| Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Facial palsy, Ptosis |
OMIM:160150 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Ptosis |
OMIM:125250 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:608930 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Cataract, Optic atrophy, Ptosis |
OMIM:619527 |
| Rett Syndrome |
|
Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:778 |
| Oculopharyngeal Muscular Dystrophy |
|
Ptosis |
ORPHA:270 |
| Trisomy 5P |
|
Ptosis, Abnormal metacarpal morphology |
ORPHA:1742 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Ptosis |
OMIM:616324 |
| Hurler Syndrome |
|
Corneal opacity, Camptodactyly of finger, Abnormality of the elbow, Abnormality of skin pigmentat... |
ORPHA:93473 |
| Alexander Disease |
|
Facial palsy, Tremor, Abnormal autonomic nervous system physiology, Hyperpigmented nevi, Ptosis |
ORPHA:58 |
| Acrofrontofacionasal Dysostosis 2 |
|
Syndactyly, Redundant neck skin, Broad hallux, Widow's peak, Hand polydactyly, Downslanted palpeb... |
OMIM:239710 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Alobar holoprosencephaly |
OMIM:615433 |
| Van Den Ende-Gupta Syndrome |
|
Glenoid fossa hypoplasia, Sclerocornea, 2-3 toe cutaneous syndactyly, Femoral bowing, Camptodacty... |
OMIM:600920 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Enlarged interphalangeal joints, Proximal placement of thumb, Highly arched eyebrow, Abnormality ... |
ORPHA:2988 |
| Werner Syndrome |
|
Abnormality of retinal pigmentation, Sparse scalp hair, Cataract, Rocker bottom foot, Abnormal ha... |
ORPHA:902 |
| Galloway-Mowat Syndrome 1 |
|
Epicanthus, Cataract, Optic atrophy, Hand clenching, Hypoplasia of the iris, Talipes equinovarus,... |
OMIM:251300 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Hallux valgus, Thumb contracture, Short nail, Tapered finger, Duplication of distal phalanx of to... |
ORPHA:324540 |
| Infantile Sialic Acid Storage Disease |
|
Epicanthus, Fair hair, Hypopigmentation of the skin, Metaphyseal irregularity, Ptosis |
OMIM:269920 |
| Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles |
OMIM:602078 |
| Mucopolysaccharidosis, Type Vii |
|
Epicanthus, Corneal opacity, Metatarsus adductus, Hirsutism, Genu valgum, Coarse hair, Narrow gre... |
OMIM:253220 |
| Arthrogryposis, Distal, Type 2A |
|
Hip contracture, Flexion contracture of finger, Ptosis, Epicanthus, Shoulder flexion contracture,... |
OMIM:193700 |
| Purpura Simplex |
|
Ptosis |
OMIM:179000 |
| Hereditary Acrokeratotic Poikiloderma |
|
Finger syndactyly, Camptodactyly of finger, Abnormal metacarpal morphology, Erythema, Hypopigment... |
ORPHA:2907 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal... |
OMIM:180500 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Radial bowing, Corneal opacity, Micromelia, Ulnar bowing, Madelung deformity, Aplasia/Hypoplasia ... |
ORPHA:1765 |
| Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Melanonychia, Abnormality of retinal pigmentation, Epicanthus, Cataract, Abnormal nasolacrimal sy... |
ORPHA:2526 |
| Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Ulnar deviation of finger, Talipes equinovarus, Downslanted palpebral fi... |
ORPHA:2053 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Ptosis, Telecanthus, Cataract, Hypertrichosis, Increased carrying angle, Brachydactyly |
OMIM:247410 |
| Frias Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Ptosis, Brachydactyly, Optic atrophy, Abnormal metacarpal morphology |
ORPHA:93262 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Tremor, Optic atrophy, Choreoathetosis, Dystonia, Ptosis |
OMIM:617664 |
| Lowry-Maclean Syndrome |
|
Corneal opacity, Single transverse palmar crease, Developmental glaucoma, Generalized hypertricho... |
ORPHA:2409 |
| Lambert-Eaton Myasthenic Syndrome |
|
Keratoconjunctivitis sicca, Abnormal autonomic nervous system physiology, Orthostatic hypotension... |
ORPHA:43393 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Ptosis, Torticollis, Hirsutism, Dystonia |
OMIM:619071 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Redundant skin, Athetosis, Dystonia, Ptosis |
ORPHA:52503 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Ptosis, Optic atrophy, Dystonia |
OMIM:618226 |
| Muenke Syndrome |
|
Hypopigmentation of hair, Hypermelanotic macule, Tarsal synostosis, Hypopigmented skin patches, C... |
ORPHA:53271 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Decreased motor nerve conduction velocity, Optic atrophy, Anisocoria, Hammertoe, Hip dysplasia, H... |
ORPHA:99949 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Overlapping toe, Postaxial polydactyly, Highly arched eyebrow, Tapered finger, Synoph... |
OMIM:613792 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Optic atrophy, Slender long bone, Coarse hair, Cubitus valgus, Ptosis |
ORPHA:1185 |
| Acrocraniofacial Dysostosis |
|
Ptosis, Telecanthus, Abnormal fingernail morphology, Tapered finger, Coxa valga, Ulnar deviation ... |
ORPHA:949 |
| Amoebic Keratitis |
|
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... |
ORPHA:67043 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Palmoplantar cutis laxa, Abnormal digit morpholo... |
OMIM:268850 |
| Microcephaly-Capillary Malformation Syndrome |
|
Ptosis, Brachydactyly, Abnormal hair whorl, Optic atrophy, Small nail, Clinodactyly, Short distal... |
OMIM:614261 |
| Persistent Hyperplastic Primary Vitreous |
|
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... |
ORPHA:91495 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Ptosis, Alopecia of scalp, Excessive wrinkling of palmar skin |
OMIM:210700 |
| Fountain Syndrome |
|
Metaphyseal dysplasia, Brachydactyly, Coarse metaphyseal trabecularization, Ptosis, Epicanthus, S... |
ORPHA:3219 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Shortening of all metacarpals, Shortening of all phalanges of fingers, Bilateral talipes equinova... |
OMIM:601356 |
| 3Q29 Microduplication Syndrome |
|
Cataract, Toe syndactyly, Sandal gap, Sclerocornea, Aniridia, Iris coloboma, Downslanted palpebra... |
ORPHA:251038 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as... |
ORPHA:293603 |
| Hypotonia-Cystinuria Syndrome |
|
Epicanthus, Ptosis |
ORPHA:163690 |
| Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Low anterior hairline, Developmental ca... |
OMIM:615663 |
| Frontofacionasal Dysplasia |
|
Telecanthus, Cataract, Blepharophimosis, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped ... |
OMIM:229400 |
| Rhyns Syndrome |
|
Abnormal acetabulum morphology, Hypoplastic ilia, Abnormal long bone morphology, Small epiphyses,... |
ORPHA:140976 |
| Myopathy, Centronuclear, 2 |
|
Talipes equinovarus, Scapular winging, Facial palsy, Ptosis |
OMIM:255200 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Ptosis |
ORPHA:324262 |
| Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Mydriasis, Abnormal cranial nerve morpho... |
ORPHA:79138 |
| Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse scalp hair, Sparse eyelashes, Blepharophimosis, Small nail, Clinodactyly o... |
OMIM:619075 |
| Rapp-Hodgkin Syndrome |
|
Syndactyly, Ptosis, Absent lacrimal punctum, Sparse eyelashes, Slow-growing hair, Supernumerary n... |
OMIM:129400 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Telecanthus, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of... |
ORPHA:364577 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Spina bifida occulta, Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis |
OMIM:618736 |
| Mosaic Trisomy 14 |
|
Blepharophimosis, Ptosis, Camptodactyly of finger, Bilateral single transverse palmar creases |
ORPHA:1703 |
| Hurler Syndrome |
|
Corneal opacity, Hypoplasia of the femoral head, Coxa valga, Bilateral ptosis, Metaphyseal wideni... |
OMIM:607014 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Curly hair, Epicanthus, Bilateral ptosis, Synophrys, 2-3 toe syndactyly, Short foot, Upslanted pa... |
OMIM:616351 |
| Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Single transverse palmar crease, Blepharophimosis, Frontal upsweep of hair, Prominent fingertip p... |
ORPHA:391372 |
| Premature Aging Syndrome, Penttinen Type |
|
Brachydactyly, Corneal opacity, Palmoplantar hyperkeratosis, Tibial bowing, Corneal stromal edema... |
OMIM:601812 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Facial palsy, Ptosis |
OMIM:616313 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
| Mucopolysaccharidosis Type 1 |
|
Corneal opacity, Split hand, Optic atrophy, Low anterior hairline, Abnormal epiphysis morphology,... |
ORPHA:579 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ptosis |
OMIM:254300 |
| Coloboma, Ocular, Autosomal Dominant |
|
Optic nerve aplasia, Corneal opacity, Optic disc coloboma, Chorioretinal coloboma, Peters anomaly |
OMIM:120200 |
| Autosomal Dominant Keratitis |
|
Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hypoplastic iris stroma, Op... |
ORPHA:2334 |
| Stromme Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Preaxial polydactyly, Microcornea, Stillbirth, Pe... |
OMIM:243605 |
| Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
| Tyrosinemia Type 2 |
|
Tremor, Palmoplantar keratoderma, Corneal opacity, Abnormality of the nail |
ORPHA:28378 |
| Brittle Cornea Syndrome 2 |
|
Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Decreased corneal thickness, Corneal perfor... |
OMIM:614170 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Brachydactyly, Ptosis, Epicant... |
ORPHA:794 |
| Al-Gazali Syndrome |
|
Proximal radio-ulnar synostosis, Bowed humerus, Corneal opacity, Sclerocornea, Bilateral talipes ... |
OMIM:609465 |
| 2P15P16.1 Microdeletion Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Sandal gap, Optic nerve hypoplasia, Supernumerary nipple, Facial... |
ORPHA:261349 |
| Pde4D Haploinsufficiency Syndrome |
|
Ptosis, Short metacarpal, Broad hallux, Short toe, Short metatarsal, Upper limb undergrowth, Cone... |
ORPHA:439822 |
| Char Syndrome |
|
Toe syndactyly, Mesoaxial foot polydactyly, Mesoaxial hand polydactyly, Supernumerary nipple, Sym... |
ORPHA:46627 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Hip dysplasia, Abnormal autonomic nervous system physiology, Shallow orbits, Long palpebral fissu... |
ORPHA:453499 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:608931 |
| Foodborne Botulism |
|
Mydriasis, Ptosis |
ORPHA:228371 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Upslanted palpebral fissure, Synophrys, Ptosis |
OMIM:616083 |
| Alpha-Mannosidosis, Adult Form |
|
Optic disc pallor, Cataract, Corneal opacity |
ORPHA:309288 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Alopecia, Corneal opacity, Abnormal toe morphology, Abnormal finger morphology, Hypopigmentation ... |
OMIM:163200 |
| Kaufman Oculocerebrofacial Syndrome |
|
Optic disc pallor, Epicanthus, Congenital hip dislocation, Long palm, Single transverse palmar cr... |
OMIM:244450 |
| Distal Duplication 15Q |
|
Arachnodactyly, Camptodactyly of finger, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
ORPHA:1707 |
| Teebi Hypertelorism Syndrome 2 |
|
Syndactyly, Upper eyelid coloboma, Clinodactyly of the 5th finger, Thick eyebrow, Ptosis |
OMIM:619736 |
| Joubert Syndrome 30 |
|
Gray matter heterotopia, Ptosis |
OMIM:617622 |
| Codas Syndrome |
|
Ptosis, Short metacarpal, Congenital hip dislocation, Cataract, Epicanthus, Abnormal pelvic girdl... |
ORPHA:1458 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad toe, Epicanthus, Corneal opacity, Synophrys, Hirsutism, 2-3 toe syndactyly, Upslanted palpe... |
ORPHA:488632 |
| Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Low anterior hairline, Large hands, Long eyelashes, Downslanted... |
OMIM:615009 |
| 16P12.1P12.3 Triplication Syndrome |
|
Hallux valgus, Unilateral ptosis, Epicanthus, Tapered finger, 2-3 toe syndactyly, Clinodactyly of... |
ORPHA:485405 |
| Refsum Disease |
|
Abnormality of retinal pigmentation, Short metacarpal, Cataract, Hammertoe, Abnormal epiphysis mo... |
ORPHA:773 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Tremor, Ptosis |
OMIM:612016 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Clinodactyly of the 5th finger, Small hand, Ptosis |
ORPHA:2868 |
| Noonan Syndrome 9 |
|
Sparse eyebrow, Downslanted palpebral fissures, Prominent corneal nerve fibers, Ptosis |
OMIM:616559 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... |
ORPHA:98957 |
| Dyskeratosis Congenita |
|
Abnormal eyebrow morphology, Alopecia, Cataract, Abnormal fingernail morphology, Hypermelanotic m... |
ORPHA:1775 |
| Ichthyosis, X-Linked |
|
Palmar hyperlinearity, Palmoplantar keratoderma, Opacification of the corneal stroma |
OMIM:308100 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Isolated Agammaglobulinemia |
|
Skin ulcer, Clinodactyly of the 5th toe |
ORPHA:229717 |
| Noonan Syndrome 11 |
|
Palmoplantar cutis laxa, Downslanted palpebral fissures, Ptosis |
OMIM:618499 |
| Coffin-Siris Syndrome 3 |
|
Sparse scalp hair, Ptosis, Hirsutism, Short distal phalanx of the 5th finger, Long eyelashes, Thi... |
OMIM:614608 |
| Oculopharyngodistal Myopathy 3 |
|
Tremor, Pigmentary retinopathy, Ptosis |
OMIM:619473 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Skin ulcer |
ORPHA:1117 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Cataract, Abnormal hand morphology, Small hand, Premature graying of hair, Broad finger, Short ph... |
OMIM:300845 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ptosis |
OMIM:254210 |
| Diamond-Blackfan Anemia 21 |
|
Hallux valgus, Unilateral ptosis, Sandal gap, Tapered finger, Preaxial hand polydactyly, Synophry... |
OMIM:620072 |
| Isolated Atp Synthase Deficiency |
|
Ptosis, Cataract, Optic atrophy, Dystonia |
ORPHA:254913 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Ptosis, Cataract, Tortuosity of conjunctival vessels, Intention tremor |
ORPHA:284289 |
| Arthrogryposis, Distal, Type 3 |
|
Ptosis, Epicanthus, Congenital hip dislocation, Overlapping toe, Single transverse palmar crease,... |
OMIM:114300 |
| Chromosome 5Q12 Deletion Syndrome |
|
Long toe, Epicanthus, Long fingers, Astigmatism, Long palpebral fissure, Ptosis |
OMIM:615668 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Facial palsy, Abnormal hip bone morphology, Clinodactyly of the 5th finger, Downslanted palpebral... |
ORPHA:3068 |
| Adult Intestinal Botulism |
|
Ptosis |
ORPHA:178487 |
| Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Curly hair, Epicanthus, Telecanthus, Redundant neck skin, Highly arched eyebrow, Low posterior ha... |
OMIM:617360 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Epicanthus, Telecanthus, Arachnodactyly, Optic nerve hypoplasia, Metatarsus adductus, Calcaneoval... |
OMIM:612513 |
| Smith-Lemli-Opitz Syndrome |
|
Sclerocornea, Proximal placement of thumb, Iris coloboma, Finger syndactyly, Rhizomelia, Abnormal... |
ORPHA:818 |
| Infant Botulism |
|
Keratoconjunctivitis sicca, Mydriasis, Ptosis |
ORPHA:178478 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Toe syndactyly, Arachnodactyly, Lacrimal duct stenosis, Sparse eyebrow, Short ... |
ORPHA:73246 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Optic disc pallor, Epicanthus, Cataract, Ulnar deviation of the hand, Single transverse palmar cr... |
OMIM:214100 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus |
ORPHA:1064 |
| Arthrogryposis Multiplex Congenita 5 |
|
Optic disc pallor, Ptosis, Rocker bottom foot, Hip dislocation, Elbow flexion contracture, Hand t... |
OMIM:618947 |
| Branchio-Oculo-Facial Syndrome |
|
Cataract, Preaxial hand polydactyly, Nasolacrimal duct obstruction, Microcornea, Premature grayin... |
ORPHA:1297 |
| Scheie Syndrome |
|
Abnormal nerve conduction velocity, Corneal opacity |
ORPHA:93474 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Long eyelashes, Ptosis |
OMIM:619076 |
| Mcdonough Syndrome |
|
Ptosis, Synophrys, Short palpebral fissure, Bilateral single transverse palmar creases |
ORPHA:2471 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
| Mosaic Trisomy 9 |
|
Corneal opacity, Rocker bottom foot, Micromelia, Camptodactyly of finger, Elbow dislocation, Hip ... |
ORPHA:99776 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Hallux valgus, Epicanthus, Telecanthus, Arachnodactyly, Broad hallux, Proximal placement of thumb... |
OMIM:613776 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Facial palsy, Triceps weakness, Weakness of long finger extensor muscles, Shoulder girdle muscle ... |
ORPHA:98913 |
| Meckel Syndrome, Type 10 |
|
Epicanthus, Ulnar deviation of the hand, Postaxial polydactyly, Postaxial hand polydactyly, Posta... |
OMIM:614175 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the distal interp... |
OMIM:607015 |
| Peters Anomaly |
|
Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c... |
ORPHA:708 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Monosomy 18P |
|
Alopecia, Generalized dystonia, Brachydactyly, Epicanthus, Low posterior hairline, Ptosis |
ORPHA:1598 |
| Mucolipidosis Iii Gamma |
|
Abnormality of the hand, Flat capital femoral epiphysis, Genu valgum, Flared iliac wing, Opacific... |
OMIM:252605 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De... |
ORPHA:98974 |
| Epithelial Recurrent Erosion Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... |
ORPHA:293381 |
| Recessive X-Linked Ichthyosis |
|
Dry skin, Opacification of the corneal stroma |
ORPHA:461 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Ptosis, Laterally extended eyebrow, Thick eyebrow, Toe syndactyly, Thick hair, Highly arched eyeb... |
OMIM:610759 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Infantile Myofibromatosis |
|
Abnormal hair morphology, Irregular hyperpigmentation, Abnormal metaphysis morphology, Skin ulcer |
ORPHA:2591 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ptosis |
OMIM:605809 |
| Tubulinopathy-Associated Dysgyria |
|
Bilateral ptosis, Pachygyria, Agyria, Dysgyria |
ORPHA:467166 |
| Congenital Disorder Of Deglycosylation 1 |
|
Ptosis, Corneal opacity, Single transverse palmar crease, Small hand, Intrinsic hand muscle atrop... |
OMIM:615273 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Fine hair, Sparse hair, Ptosis |
OMIM:615278 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Skin ulcer, Purpura |
ORPHA:743 |
| Spinocerebellar Ataxia 47 |
|
Ptosis, Clinodactyly, Small hand, Tapered finger |
OMIM:617931 |
| Wagro Syndrome |
|
Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, Ptosis |
OMIM:612469 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Alopecia, Abnormal fingernail morphology, Erythema, Skin ulcer, Palmoplantar keratoderma, Palmopl... |
ORPHA:659 |
| Prolidase Deficiency |
|
Skin ulcer, Low posterior hairline, Facial hirsutism, Petechiae, Ptosis |
OMIM:170100 |
| Farber Disease |
|
Corneal opacity, Abnormality of the hand, Short toe, Abnormality of the elbow, Abnormal conjuncti... |
ORPHA:333 |
| Myopathy With Extrapyramidal Signs |
|
Epicanthus, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Ptosis |
OMIM:615673 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Generalized dystonia, Choreoathetosis, Dystonia, Ptosis |
OMIM:245348 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Ocular albinism, Skin ulcer |
ORPHA:352723 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Single transverse palmar crease, Supernumerary nipple, Sparse eyebrow, Synophrys, 2-3... |
OMIM:620098 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Congenital hip dislocation, Facial palsy, Ptosis |
OMIM:255310 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Long palpebral fissure, Pachygyria, Polymicrogyria, Ptosis |
OMIM:603387 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Clinodactyly, Radial deviation of finger, Ptosis |
OMIM:188025 |
| Hajdu-Cheney Syndrome |
|
Coarse metaphyseal trabecularization, Cataract, Abnormal fingernail morphology, Brachydactyly, Bo... |
ORPHA:955 |
| Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Synophrys, Dystonia, Thick eyebrow, Ptosis |
OMIM:619641 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Brachydactyly, Epicanthus, Lacrimal duct stenosis, Optic atrophy, Dystonia, Ptosis |
ORPHA:457193 |
| Neurofibromatosis-Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:638 |
| Sjogren-Larsson Syndrome |
|
Astigmatism, Opacification of the corneal epithelium |
OMIM:270200 |
| Bare Lymphocyte Syndrome, Type I |
|
Skin ulcer, Ectopia lentis |
OMIM:604571 |
| Stüve-Wiedemann Syndrome |
|
Bowing of the long bones, Camptodactyly of finger, Micromelia, Metaphyseal widening, Elbow flexio... |
ORPHA:3206 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Tremor, Ptosis, Choreoathetosis, Dystonia |
OMIM:312170 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Torticollis, Telecanthus, Broad hallux, Tapered finger, Short thumb, Low anterior hairline, Chore... |
OMIM:620224 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Sparse scalp hair, Finger syndactyly, Ptosis, Overlapping toe, Single transverse palmar crease, E... |
ORPHA:464738 |
| Nager Syndrome |
|
Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Hypoplasia of the radius, Lower eyelid c... |
ORPHA:245 |
| X-Linked Agammaglobulinemia |
|
Alopecia, Conjunctivitis, Hypopigmented skin patches, Skin ulcer |
ORPHA:47 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia, Ptosis |
OMIM:619724 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
| Sponastrime Dysplasia |
|
Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip... |
ORPHA:93357 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Tremor, Downslanted palpebral fissures, Optic atrophy, Ptosis |
ORPHA:442835 |
| Xeroderma Pigmentosum |
|
Conjunctival telangiectasia, Alopecia, Cataract, Entropion, Hypermelanotic macule, Keratitis, Ery... |
ORPHA:910 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Epicanthus, Overlapping toe, Supernumerary nipple, Highly arched eyebrow, Tapered finger, 2-3 toe... |
OMIM:618653 |
| Mucolipidosis Type Iv |
|
Abnormality of retinal pigmentation, Palmoplantar keratoderma, Corneal opacity |
ORPHA:578 |
| Visual Impairment And Progressive Phthisis Bulbi |
|
Flat cornea, Ptosis |
OMIM:618283 |
| Larsen Syndrome |
|
Short metacarpal, Corneal opacity, Short nail, Spatulate thumbs, Elbow dislocation, Dislocated wr... |
OMIM:150250 |
| Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Hypoplastic toenails, Low anterior... |
ORPHA:235 |
| Al Amyloidosis |
|
Autonomic erectile dysfunction, Postural hypotension with compensatory tachycardia, Abnormal auto... |
ORPHA:85443 |
| Anterior Segment Dysgenesis 6 |
|
Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi... |
OMIM:617315 |
| Chromosome 18P Deletion Syndrome |
|
Epicanthus, Toe syndactyly, Redundant neck skin, Coxa vara, Radial deviation of finger, Dystonia,... |
OMIM:146390 |
| Serotonin Syndrome |
|
Abnormality of the autonomic nervous system, Tremor, Mydriasis |
ORPHA:43116 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Generalized hirsutism, Ptosis |
ORPHA:1933 |
| Fryns Syndrome |
|
Hypoplastic fingernail, Aganglionic megacolon, Corneal opacity, Clinodactyly of the 5th finger, S... |
ORPHA:2059 |
| Wolf-Hirschhorn Syndrome |
|
Hypoplastic pubic ramus, Ptosis, Epicanthus, Arachnodactyly, Sclerocornea, Highly arched eyebrow,... |
ORPHA:280 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Autoamputation of digits, Acral ulceration, Osteolytic defects of the phalanges of the hand |
OMIM:613115 |
| Takenouchi-Kosaki Syndrome |
|
Overlapping toe, Proximal placement of thumb, Highly arched eyebrow, Sparse eyebrow, Tapered fing... |
OMIM:616737 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ptosis |
OMIM:603034 |
| Aarskog-Scott Syndrome |
|
Hyperextensibility of the finger joints, Syndactyly, Ptosis, Single transverse palmar crease, Wid... |
OMIM:305400 |
| Tangier Disease |
|
Corneal opacity, Facial diplegia, Nail dystrophy, Dry skin, Ectropion |
ORPHA:31150 |
| Tick-Borne Encephalitis |
|
Facial palsy, Tremor, Abnormal glossopharyngeal nerve morphology, Abnormal autonomic nervous syst... |
ORPHA:297 |
| Noonan Syndrome 4 |
|
Curly hair, Epicanthus, Sparse eyebrow, Bilateral ptosis, Blue irides, Cubitus valgus, High anter... |
OMIM:610733 |
| Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Scapular winging, Ptosis |
ORPHA:171439 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Scapular winging, Cataract, Optic atrophy, Temporal optic disc pallor, Ptosis |
ORPHA:98673 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Downslanted palpebral fissures, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:209880 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Cataract, Arachnodactyly, Epicanthus, Abnormality of hair texture, Hip ... |
ORPHA:96169 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Rodrigues Blindness |
|
Microcornea, Sparse hair, Sclerocornea, Fine hair |
OMIM:268320 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Tremor, Ptosis, Oculogyric crisis, Dystonia |
ORPHA:70594 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Shoulder flexion contracture, Elbow flexion contracture,... |
OMIM:619566 |
| Koolen-De Vries Syndrome |
|
Ptosis, Epicanthus, Cataract, Abnormality of hair texture, Blepharophimosis, Hypotrophy of the sm... |
OMIM:610443 |
| Developmental And Epileptic Encephalopathy 18 |
|
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:615476 |
| Cornelia De Lange Syndrome 1 |
|
Single transverse palmar crease, Micromelia, Proximal placement of thumb, Synophrys, Microcornea,... |
OMIM:122470 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Tremor, Ptosis |
OMIM:614831 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology, Intention tremor |
ORPHA:93256 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Hand muscle atrophy, Intrinsic hand muscle atrophy, Ptosis |
OMIM:601462 |
| Revesz Syndrome |
|
Leukocoria, Nail pits, Fine, reticulate skin pigmentation, Fine hair, Nail dystrophy, Sparse hair... |
OMIM:268130 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Torticollis, Pseudoarthrosis, Ptosis |
OMIM:618155 |
| Neurocardiofaciodigital Syndrome |
|
Optic disc pallor, Syndactyly, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure, ... |
OMIM:619869 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Hip contracture, Radial deviation of the hand, Facial palsy, Rocker bottom foot, Hip dislocation,... |
OMIM:301041 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Encephalocele, Abnormal cortical gyration, Pachygyria, Abnormality of neuronal migration, Macrogy... |
ORPHA:2211 |
| 3Mc Syndrome |
|
Ptosis, Telecanthus, Supernumerary nipple, Highly arched eyebrow, Blepharophimosis, Hip dislocati... |
ORPHA:293843 |
| Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Synophrys, Opisthotonus, Dystonia, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:618792 |
| Joubert Syndrome 3 |
|
Frontal polymicrogyria, Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:608629 |
| Nmda Receptor Encephalitis |
|
Orthostatic hypotension, Oculogyric crisis, Orthostatic tachycardia, Opisthotonus, Choreoathetosi... |
ORPHA:217253 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Ptosis, Telecanthus, Redundant neck skin, Supernumerary nipple, Proximal placement of thumb, Blep... |
OMIM:604314 |
| Trichinellosis |
|
Facial palsy, Anisocoria, Conjunctivitis, Abnormal uvea morphology, Conjunctival hyperemia |
ORPHA:863 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Ptosis |
OMIM:605637 |
| Trisomy 17P |
|
Cataract, Tapered finger, Low posterior hairline, Clinodactyly of the 5th finger, High anterior h... |
ORPHA:261290 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Epicanthus, Low posterior hairline, Narrow palpebral fissure, Astigmatism, Talipes equinovarus, D... |
OMIM:619493 |
| Schimke Immuno-Osseous Dysplasia |
|
Wide capital femoral epiphyses, Corneal opacity, Hypermelanotic macule, Abnormal femoral head mor... |
ORPHA:1830 |
| Diabetes And Deafness, Maternally Inherited |
|
Ptosis |
OMIM:520000 |
| Arthrogryposis, Distal, Type 5D |
|
Ptosis, Congenital hip dislocation, Highly arched eyebrow, Limited elbow movement, Lagophthalmos,... |
OMIM:615065 |
| Mosaic Trisomy 8 |
|
Corneal opacity, Camptodactyly of finger, Patellar aplasia, Hypopigmented skin patches, Narrow pe... |
ORPHA:96061 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Metaphyseal dysplasia, Epicanthus, Optic neuropathy, Optic atrophy, Broad ischia, Diaphyseal dysp... |
OMIM:619727 |
| Jacobsen Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct ob... |
OMIM:147791 |
| Angelman Syndrome |
|
Keratoconus, Optic disc pallor, Ptosis, Tremor, Optic atrophy, Astigmatism, Fair hair, Hypopigmen... |
ORPHA:72 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Polymicrogyria, Ptosis |
OMIM:618731 |
| Pfeiffer Syndrome |
|
Finger syndactyly, Brachydactyly, Ptosis, Symphalangism affecting the phalanges of the hand, Hip ... |
ORPHA:710 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Intercrural pterygium, Camptodactyly of toe, Pterygium, Dislocated radial head, Syndactyly, Arach... |
OMIM:265000 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Telecanthus, Sandal gap, Tremor, Sparse eyebrow, Long fingers, Epiblepharon, Front... |
OMIM:617557 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Unilateral ptosis, Single transverse palmar crease, 2-3 toe syndactyly, Clubbing of toes, Opistho... |
ORPHA:3304 |
| Mucopolysaccharidosis Type 3 |
|
Cataract, Corneal opacity, Thick hair, Avascular necrosis of the capital femoral epiphysis, Synop... |
ORPHA:581 |
| Fetal Hydantoin Syndrome |
|
Ptosis, Hypoplastic fingernail, Epicanthus, Low posterior hairline, Coarse hair, Triphalangeal th... |
ORPHA:1912 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Single transverse palmar crease, Low anterior hairline, Low posterior hairline, Congenital bilate... |
ORPHA:73272 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Pallor, Ptosis |
OMIM:613561 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Scapular winging, Facial palsy, Ptosis |
ORPHA:353327 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Epicanthus, Abnormality of the hand, Tapered finger, Tremor, Unilateral radial aplasia, Synophrys... |
ORPHA:476126 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Cataract, Patent ductus arteriosus, Corneal erosion, Conjunctivitis, Distichiasis, Ectropion |
ORPHA:33001 |
| Alpha-Mannosidosis, Infantile Form |
|
Optic disc pallor, Cataract, Corneal opacity, Highly arched eyebrow, Genu valgum, Cortical thicke... |
ORPHA:309282 |
| Granular Corneal Dystrophy Type Ii |
|
Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,... |
ORPHA:98963 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Sparse scalp hair, Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology,... |
ORPHA:534 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Scapular winging, Ptosis |
ORPHA:424107 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Ptosis |
ORPHA:3454 |
| Joubert Syndrome 35 |
|
Telecanthus, Synophrys, Highly arched eyebrow, Ptosis |
OMIM:618161 |
| 3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Ptosis, Telecanthus, Single interphalangeal crease of fifth finger, ... |
OMIM:257920 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Ptosis |
OMIM:615917 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Atrichia, Periungual erythema, Scaling skin, Neonatal death, Dystrophic fingernails, Absent eyebr... |
OMIM:308205 |
| Oculopharyngodistal Myopathy 4 |
|
Tremor, Postural tremor, Ptosis |
OMIM:619790 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Choreoathetosis, Upslanted palpebral fissure, Long eyelashes, Dystonia, Ptosis |
OMIM:617595 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Facial palsy, Bilateral ptosis, Optic atrophy, Dystonia, Intention tremor, Ptosis |
OMIM:258450 |
| Neuroocular Syndrome |
|
Hyperextensibility of the finger joints, Brittle hair, Synophrys, Lens coloboma, Microcornea, Cli... |
OMIM:619539 |
| Weiss-Kruszka Syndrome |
|
Ptosis, Epicanthus, Single transverse palmar crease, Proximal placement of thumb, Highly arched e... |
OMIM:618619 |
| Mucopolysaccharidosis Type 4 |
|
Bowing of the long bones, Corneal opacity, Coxa valga, Genu valgum, Abnormal epiphysis morphology... |
ORPHA:582 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Epicanthus, Telecanthus, Genu valgum, Low posterior hairline, Cubitus valgus, Downslanted palpebr... |
ORPHA:1778 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Hip contracture, Epicanthus, Tapered finger, Downslanted palpebral fissures, Ptosis |
OMIM:616801 |
| Buratti-Harel Syndrome |
|
Epicanthus, Broad hallux, Small nail, Clinodactyly of the 5th finger, Sparse medial eyebrow, Down... |
OMIM:619314 |
| Reticular Dysgenesis |
|
Skin ulcer |
ORPHA:33355 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Hallux valgus, Optic disc pallor, Toe syndactyly, Corneal opacity, Arachnodactyly, Astigmatism, P... |
ORPHA:464306 |
| Oculoauricular Syndrome |
|
Cataract, Sclerocornea, Chorioretinal atrophy, Nasolacrimal duct obstruction, Developmental catar... |
OMIM:612109 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Ptosis |
OMIM:615351 |
| Spinocerebellar Ataxia 28 |
|
Ptosis, Dystonia |
OMIM:610246 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Epicanthus, Cataract, Palpebral edema, Single transverse palmar crease, Brushfield spots, Metatar... |
OMIM:614866 |
| Acute Radiation Syndrome |
|
Cataract, Skin ulcer, Scaling skin, Hypopigmentation of the skin, Hyperpigmentation of the skin |
ORPHA:454831 |
| Frontorhiny |
|
Ptosis, Epicanthus, Cataract, Camptodactyly of finger, Widow's peak, Finger clinodactyly, Iris co... |
ORPHA:391474 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Corneal opacity, Optic nerve hypoplasia, Corneal dystrophy, Sparse eyebrow, Synoph... |
ORPHA:495875 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Telecanthus, Corneal opacity, Aplasia of the distal phalanx of the 5th toe, Synophrys, Aplasia of... |
OMIM:608670 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Flat cornea, Arachnodactyly, Protrusio acetabuli, Talipes equinovarus, Downslanted p... |
OMIM:614816 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Abnormality of the hand, Abnormality of the extraocula... |
ORPHA:298 |
| Myasthenic Syndrome, Congenital, 22 |
|
Ptosis |
OMIM:616224 |
| Noonan Syndrome 8 |
|
Curly hair, Epicanthus, Palmoplantar cutis laxa, Downslanted palpebral fissures, Hyperpigmentatio... |
OMIM:615355 |
| Mucolipidosis Iii Alpha/Beta |
|
Soft tissue swelling of interphalangeal joints, Hyperopic astigmatism, Irregular carpal bones, Sp... |
OMIM:252600 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Gray matter heterotopia, Long eyelashes, Broad lateral eyebrow, Ptosis |
OMIM:608624 |
| Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Ptosis, Facial palsy, Truncal titubation, Opisthotonus, Dystonia, Craniofacial dystonia, Action t... |
OMIM:607483 |
| Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Ptosis, Talipes equinovarus, Camptodactyly |
OMIM:618198 |
| Microphthalmia, Syndromic 16 |
|
Ankyloblepharon, Sclerocornea |
OMIM:611038 |
| Perlman Syndrome |
|
Ptosis, Epicanthus, Bilateral single transverse palmar creases |
ORPHA:2849 |
| Tetrasomy 12P |
|
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Ptosis |
ORPHA:884 |
| Ververi-Brady Syndrome |
|
Upslanted palpebral fissure, Intention tremor, Clinodactyly of the 5th finger, Metaphyseal irregu... |
OMIM:617982 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Tremor, Optic atrophy, Ptosis |
ORPHA:137898 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Talipes equinovarus, Camptodactyly, Blepharophimosis, Downslanted palpebral fissures, Ptosis |
OMIM:617333 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Hallux valgus, Redundant skin, Bilateral ptosis, Squared iliac bones, Hip dislocation, Low poster... |
OMIM:618000 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Finger syndactyly, Ptosis, Arachnodactyly, Long palm, Camptodactyly of finger, Tapered finger, Me... |
ORPHA:2215 |
| Trichohepatoneurodevelopmental Syndrome |
|
Curly hair, Epicanthus, Ectropion, Overlapping toe, Almond-shaped palpebral fissure, Synophrys, H... |
OMIM:618268 |
| Nizon-Isidor Syndrome |
|
Unilateral ptosis, Sparse eyebrow, Long fingers, Upper eyelid edema, Prominent fingertip pads, Do... |
OMIM:618872 |
| Arachnoid Cyst |
|
Encephalocele, Facial palsy, Mydriasis, Hydrocephalus, Cranial nerve compression, Holoprosencepha... |
ORPHA:2356 |
| Mucopolysaccharidosis Type 7 |
|
Corneal opacity, Metatarsus adductus, Epiphyseal stippling, Abnormal hip bone morphology, Diaphys... |
ORPHA:584 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal lower motor neuron morphology, Ptosis, Abnormal upper motor neuron morphology |
ORPHA:275872 |
| Joubert Syndrome 14 |
|
Epicanthus, Postaxial polydactyly, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fi... |
OMIM:614424 |
| Benign Schwannoma |
|
Facial palsy, Abnormality of the twelfth cranial nerve, Vestibular schwannoma, Abnormality of per... |
ORPHA:252164 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Dystonia, Corneal opacity, Polycoria, Developmental cataract, Microcornea, Hypoplasia of the iris... |
OMIM:175780 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Alopecia, Corneal opacity, Erythema, Onychogryposis, Depigmentation/hyperpigmentation of skin, Ge... |
ORPHA:79396 |
| Paroxysmal Hemicrania |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:157835 |
| Giant Cell Arteritis |
|
Alopecia, Optic atrophy, Skin ulcer, Ptosis |
ORPHA:397 |
| Joubert Syndrome With Hepatic Defect |
|
Highly arched eyebrow, Tremor, Postaxial hand polydactyly, Optic disc coloboma, Chorioretinal col... |
ORPHA:1454 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Opisthotonus, Choreoathetosis, Pallor, Dystonia, Ptosis |
ORPHA:13 |
| Yunis-Varon Syndrome |
|
Aplasia of the distal phalanges of the hand, Redundant neck skin, Single transverse palmar crease... |
ORPHA:3472 |
| Cutis Marmorata Telangiectatica Congenita |
|
Finger syndactyly, Toe syndactyly, Leukocoria, Abnormality of the upper limb, Multiple cafe-au-la... |
ORPHA:1556 |
| Carey-Fineman-Ziter Syndrome |
|
Ptosis, Epicanthus, Facial palsy, Aplasia of the pectoralis major muscle, Ulnar deviation of fing... |
ORPHA:1358 |
| Granular Corneal Dystrophy Type I |
|
Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of... |
ORPHA:98962 |
| Fanconi Anemia |
|
Abnormal eyelid morphology, Abnormal femur morphology, Abnormality of skin pigmentation, Triphala... |
ORPHA:84 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Cataract, Single transverse palmar crease, 2-3 toe syndactyly, Microcornea, Sparse ha... |
OMIM:616449 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Syndactyly, Single transverse palmar crease, Highly arched eyebrow, Bilateral ptosis, Synophrys, ... |
OMIM:614701 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Scapular winging, Shoulder girdle muscle weakness, Ptosis |
OMIM:608423 |
| Cryoglobulinemic Vasculitis |
|
Keratoconjunctivitis sicca, Petechiae, Skin ulcer, Purpura |
ORPHA:91138 |
| Kindler Epidermolysis Bullosa |
|
Finger syndactyly, Corneal opacity, Camptodactyly of finger, Erythema, Abnormality of skin pigmen... |
ORPHA:2908 |
| Cockayne Syndrome B |
|
Dry hair, Abnormal auditory evoked potentials, Decreased nerve conduction velocity, Tremor, Abnor... |
OMIM:133540 |
| Sifrim-Hitz-Weiss Syndrome |
|
Epicanthus, Tapered finger, Flat acetabular roof, Upslanted palpebral fissure, Astigmatism, Short... |
OMIM:617159 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
| Wolf-Hirschhorn Syndrome |
|
Rieger anomaly, Epicanthus, Pseudoepiphyses of the metacarpals, Single transverse palmar crease, ... |
OMIM:194190 |
| Sanjad-Sakati Syndrome |
|
Short foot, Astigmatism, Corneal opacity, Small hand |
ORPHA:2323 |
| Neuroleptic Malignant Syndrome |
|
Tremor, Oculogyric crisis, Abnormal autonomic nervous system physiology |
ORPHA:94093 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Ptosis, Congenital hip dislocation, Cataract, Tapered finger, Delayed epiphyseal ossification, Fl... |
OMIM:616007 |
| Blau Syndrome |
|
Cataract, Facial palsy, Camptodactyly of finger, Keratitis, Iridocyclitis, Erythema, Skin ulcer, ... |
ORPHA:90340 |
| Robinow-Sorauf Syndrome |
|
Hallux valgus, Broad hallux, Bilateral ptosis, Shallow orbits, Duplication of the distal phalanx ... |
OMIM:180750 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Syndactyly, Ptosis, Telecanthus, Redundant neck skin, Proximal placement of thumb, Short palm, Bl... |
OMIM:217980 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Hallux valgus, Sandal gap, Recurrent shoulder dislocation, Long fingers, Myopic astigmatism, Calc... |
ORPHA:230851 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Supernumerary nipple, Contracture of the proximal interphalangeal joint of the 4th finger, Astigm... |
OMIM:618109 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Hallux valgus, Alopecia, Arachnodactyly, Sandal gap, Phalangeal dislocation, Equinus calcaneus, E... |
ORPHA:536532 |
| Witteveen-Kolk Syndrome |
|
Proximal placement of thumb, Anisocoria, Short palm, Clinodactyly of the 5th finger, Shallow orbi... |
OMIM:613406 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis |
OMIM:618225 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616323 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Sparse scalp hair, Ptosis, Highly arched eyebrow, Hypoplastic fifth fingernail, Long eyelashes, H... |
OMIM:615866 |
| Mucolipidosis Ii Alpha/Beta |
|
Brittle hair, Metaphyseal widening, Sparse hair, Megalocornea, Hypopigmentation of the skin, Spar... |
OMIM:252500 |
| Infantile Systemic Hyalinosis |
|
Camptodactyly of finger, Micromelia, Skin ulcer, Short palm, Hyperpigmentation of the skin, Brach... |
ORPHA:2176 |
| Orthostatic Hypotension 1 |
|
Ptosis, Orthostatic hypotension, Brachydactyly |
OMIM:223360 |
| Livedoid Vasculopathy |
|
Abnormality of the peripheral nervous system, Hyperpigmented streaks, Skin ulcer, Macular purpura... |
ORPHA:542643 |
| Hadziselimovic Syndrome |
|
Epicanthus, Ptosis |
OMIM:612946 |
| Neurofibromatosis Type 1 |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generaliz... |
ORPHA:636 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Proximal muscle weakness in upper limbs, Scapular winging, Ptosis |
OMIM:619733 |
| Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Curly hair, Hyperextensibility of the finger joints, Slow-growing hair, Epicanthu... |
OMIM:115150 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Mucopolysaccharidosis, Type Vi |
|
Epiphyseal dysplasia, Corneal opacity, Metaphyseal widening, Split hand, Genu valgum, Flared ilia... |
OMIM:253200 |
| Hypotonia-Cystinuria Syndrome |
|
Long eyelashes, Facial palsy, Ptosis |
OMIM:606407 |
| Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Ptosis |
ORPHA:1913 |
| 20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Short foot, Deep palmar crease, Downslanted palpebral fissures, Abno... |
ORPHA:363659 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Ptosis, Short metacarpal, Short fourth metatarsal, Overlapping toe, Epicanthus, Femoral bowing, N... |
OMIM:616723 |
| Teebi-Shaltout Syndrome |
|
Syndactyly, Ptosis, Ulnar deviation of the hand, Slow-growing hair, Single transverse palmar crea... |
OMIM:272950 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Alopecia, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal... |
OMIM:613001 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Finger syndactyly, Epicanthus, Telecanthus, Camptodactyly of finger, Multiple pterygia, Abnormal ... |
ORPHA:2990 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Microcornea, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:110100 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Absent eyebrow, Alopecia, Sparse scalp hair, Sparse eyelashes, Tapered toe, Tapered finger, Hypop... |
ORPHA:544488 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Aganglionic megacolon, Tapered finger, Narrow palpebral fissure, Talipes equinovarus,... |
OMIM:613603 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Ptosis, Facial diplegia, Athetosis, Dystonia |
OMIM:612073 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Epicanthus, Patent ductus arteriosus |
OMIM:618223 |
| Acromelic Frontonasal Dysostosis |
|
Syndactyly, Telecanthus, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyly,... |
OMIM:603671 |
| Multiple Sulfatase Deficiency |
|
Broad hallux, Corneal opacity, Broad thumb |
OMIM:272200 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Finger syndactyly, Ptosis, Camptodactyly of finger, Low posterior hairline, Abnormal hip bone mor... |
ORPHA:1323 |
| Oculo-Palato-Cerebral Syndrome |
|
Cataract, Small hand, Leukocoria, Short foot, Aplasia/Hypoplasia of the nails |
ORPHA:2714 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Facial palsy, Ptosis |
OMIM:255320 |
| Lacrimoauriculodentodigital Syndrome |
|
Abnormal digit morphology, Syndactyly, Finger syndactyly, Increased corneal thickness, Short thum... |
ORPHA:2363 |
| Joubert Syndrome 7 |
|
Ptosis, Postaxial hand polydactyly, Postaxial polydactyly, Genu valgum |
OMIM:611560 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Optic disc pallor, Corneal opacity, Tapered finger, Short toe, Short foot, Astigmatism, Flexion c... |
ORPHA:464311 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Optic disc pallor, Ptosis |
ORPHA:363429 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ptosis |
OMIM:615084 |
| Adnp Syndrome |
|
Sparse scalp hair, Broad hallux, Single transverse palmar crease, Sandal gap, Abnormal toe morpho... |
ORPHA:404448 |
| Van Maldergem Syndrome 2 |
|
Short fourth metatarsal, Ulnar deviation of the hand, Epicanthus, High anterior hairline, Cutaneo... |
OMIM:615546 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Amyotrophic lateral sclerosis, Ptosis |
OMIM:615911 |
| Congenital Myopathy 19 |
|
Ptosis |
OMIM:618578 |
| Wiedemann-Rautenstrauch Syndrome |
|
Tremor, Synophrys, Sparse hair, Long toe, Lagophthalmos, 2-3 toe syndactyly, Hirsutism, Dermal tr... |
ORPHA:3455 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Unilateral ptosis, Broad hallux, Optic nerve hypoplasia, Facial palsy, Abnormality of the hand, O... |
ORPHA:508498 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Exaggerated startle response, Torticollis, Oculogyric crisis, Limb tremor, Choreoathetosis, Athet... |
OMIM:608643 |
| Macular Corneal Dystrophy |
|
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ... |
ORPHA:98969 |
| Xia-Gibbs Syndrome |
|
Upslanted palpebral fissure, Downslanted palpebral fissures, Simplified gyral pattern, Ptosis |
OMIM:615829 |
| Kbg Syndrome |
|
Syndactyly, Telecanthus, Single transverse palmar crease, Synophrys, Low anterior hairline, Low p... |
OMIM:148050 |
| Autosomal Dominant Cutis Laxa |
|
Ptosis, Dermal translucency, Redundant neck skin, Corneal opacity, Redundant skin, Hip dislocatio... |
ORPHA:90348 |
| Shashi-Pena Syndrome |
|
Ptosis, Short metacarpal, Epicanthus, Highly arched eyebrow, Synophrys, Deep palmar crease, Long ... |
OMIM:617190 |
| King-Denborough Syndrome |
|
Bilateral ptosis, Downslanted palpebral fissures, Ptosis |
OMIM:619542 |
| Superficial Siderosis |
|
Anisocoria, Abnormality of the brachial nerve plexus, Abnormality of the vestibulocochlear nerve,... |
ORPHA:247245 |
| Ohdo Syndrome |
|
Epicanthus, Sparse eyebrow, Clinodactyly of the 5th finger, Blepharophimosis, Ptosis |
OMIM:249620 |
| Gomez-Lopez-Hernandez Syndrome |
|
Alopecia, Downslanted palpebral fissures, Opacification of the corneal stroma |
OMIM:601853 |
| Schwartz-Jampel Syndrome |
|
Micromelia, Low anterior hairline, Coxa vara, Microcornea, Wrist flexion contracture, Generalized... |
ORPHA:800 |
| Reynolds Syndrome |
|
Keratoconjunctivitis sicca, Irregular hyperpigmentation, Skin ulcer |
ORPHA:779 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Downslanted palpebral fissures, Ptosis |
OMIM:616355 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ptosis |
ORPHA:663 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Curly hair, Ptosis, Epicanthus, Slow-growing hair, Optic nerve hypoplasia, Highly arched eyebrow,... |
OMIM:617506 |
| Congenital Primary Aphakia |
|
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea |
ORPHA:83461 |
| Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
| Lathosterolosis |
|
Epicanthus, Toe syndactyly, Cataract, Postaxial hand polydactyly, Microcornea, Postaxial foot pol... |
ORPHA:46059 |
| Orofaciodigital Syndrome V |
|
Unilateral ptosis, Aganglionic megacolon, Sandal gap, Postaxial polydactyly, Postaxial hand polyd... |
OMIM:174300 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Buphthalmos, Peters anomaly, Me... |
OMIM:236670 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Meningocele, Chorioretinal coloboma, Ptosis |
ORPHA:2031 |
| Fryns Syndrome |
|
Prominent fingertip pads, Aganglionic megacolon, Single transverse palmar crease, Proximal placem... |
OMIM:229850 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Ptosis |
OMIM:147800 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic disc pallor, Facial palsy, Flared metaphysis, Optic atrophy, Stillbirth, Hip subluxation, M... |
OMIM:259720 |
| Ohdo Syndrome, X-Linked |
|
Epicanthus, Ulnar deviation of the hand, Overlapping toe, Sparse eyebrow, Short thumb, Clinodacty... |
OMIM:300895 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Hyperextensibility of the finger joints, Ptosis, Epicanthus, Overlapping toe, Highly arched eyebr... |
OMIM:213980 |
| 9Q21.13 Microdeletion Syndrome |
|
Long palpebral fissure, Gray matter heterotopia, Ptosis |
ORPHA:531151 |
| Takayasu Arteritis |
|
Skin ulcer |
ORPHA:3287 |
| Joubert Syndrome 1 |
|
Optic disc pallor, Epicanthus, Highly arched eyebrow, Postaxial hand polydactyly, Optic disc colo... |
OMIM:213300 |
| Coach Syndrome 1 |
|
Ptosis, Optic disc pallor, Postaxial hand polydactyly, Dystonia |
OMIM:216360 |
| Wiedemann-Steiner Syndrome |
|
Epicanthus, Telecanthus, Rhizomelia, Abnormality of the hand, Tapered finger, Synophrys, Abnormal... |
ORPHA:319182 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Facial diplegia, Facial paralysis, Optic atrophy, Ptosis |
OMIM:613559 |
| Roberts-Sc Phocomelia Syndrome |
|
Tetraphocomelia, Eyelid coloboma, Shallow orbits, Sparse hair, Phocomelia, Wrist flexion contract... |
OMIM:268300 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Pyoderma gangrenosum, Elbow flexion contracture |
OMIM:604416 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Hip contracture, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Antecubital pte... |
OMIM:178110 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Cataract, Facial palsy, Tapered finger, Lagophthalmos, Pectoralis hypoplasia, Talipes... |
OMIM:254940 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Bilateral ptosis, Ptosis |
OMIM:616479 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Symblepharon, Recurrent loss of toenails and fingernails, Skin ulcer, Nail dystrophy, Corneal pte... |
OMIM:245660 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Generalized hirsutism, Skin ulcer |
ORPHA:2218 |
| Joubert Syndrome 37 |
|
Sparse hair, Postaxial polydactyly, Ptosis |
OMIM:619185 |
| Noonan Syndrome 10 |
|
Curly hair, Epicanthus, Prominent corneal nerve fibers, Sparse eyebrow, Palmoplantar cutis laxa, ... |
OMIM:616564 |
| Typical Nemaline Myopathy |
|
Ptosis, Facial palsy, Hip dislocation, Genu valgum, Facial diplegia, Genu varum |
ORPHA:171436 |
| Scarf Syndrome |
|
Epicanthus, Low posterior hairline, Cutis laxa, Short sternum, Hypoplastic nipples, Sparse hair, ... |
ORPHA:3134 |
| Phace Syndrome |
|
Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,... |
ORPHA:42775 |
| Orofaciodigital Syndrome Xvi |
|
Gray matter heterotopia, Short palpebral fissure, Ptosis |
OMIM:617563 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Shoulder girdle muscle weakness, Ptosis |
OMIM:615156 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Epicanthus, Cataract, Corneal opacity, Multiple cafe-au-lait spots, Abnormality of skin pigmentat... |
ORPHA:1052 |
| Cockayne Syndrome A |
|
Hip contracture, Dry hair, Cataract, Abnormal auditory evoked potentials, Decreased nerve conduct... |
OMIM:216400 |
| Schimke Immunoosseous Dysplasia |
|
Hypermelanotic macule, Hypoplasia of the capital femoral epiphysis, Fine hair, Coarse hair, Astig... |
OMIM:242900 |
| Myasthenic Syndrome, Congenital, 14 |
|
Scapular winging, Ptosis |
OMIM:616228 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Short fourth metatarsal, Hooded eyelid, Single transverse palmar crease, S... |
OMIM:619841 |
| 14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Finger syndactyly, Toe syndactyly, Ptosis, Epicanthus, Short foot, Downslant... |
ORPHA:264200 |
| Mesomelia-Synostoses Syndrome |
|
Ptosis, Telecanthus, Ulnar deviation of the hand, Progressive forearm bowing, Micromelia, Short m... |
OMIM:600383 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Choreoathetosis, Ptosis, Dystonia |
OMIM:618451 |
| Congenital Myopathy 22A, Classic |
|
Hip contracture, Scapular winging, Bilateral ptosis, Synophrys, Congenital finger flexion contrac... |
OMIM:620351 |
| Helsmoortel-Van Der Aa Syndrome |
|
Ectropion of lower eyelids, Eyelid coloboma, Short 4th toe, Clinodactyly of the 5th finger, Promi... |
OMIM:615873 |
| Autosomal Recessive Robinow Syndrome |
|
Clinodactyly of the 5th finger, Bilateral single transverse palmar creases, Synostosis of carpal ... |
ORPHA:1507 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic disc pallor, Congenital hip dislocation, Coxa valga, Lagophthalmos, Bilateral ptosis, Optic... |
ORPHA:404454 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Dominant Beta-Thalassemia |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pallor, Hyperpigm... |
ORPHA:231226 |
| Autosomal Dominant Hyper-Ige Syndrome |
|
Abnormal hair morphology, Paronychia, Skin ulcer, Skin vesicle, Dystrophic fingernails |
ORPHA:2314 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Alopecia, Pyoderma gangrenosum |
OMIM:616576 |
| Yunis-Varon Syndrome |
|
Congenital hip dislocation, Redundant neck skin, Single transverse palmar crease, Sclerocornea, S... |
OMIM:216340 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Limb dystonia, Oculogyric crisis, Tremor, Dystonia, Ptosis |
ORPHA:352649 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Ptosis |
OMIM:618098 |
| Neurofaciodigitorenal Syndrome |
|
Epicanthus, Abnormal distal phalanx morphology of finger, Corneal dystrophy, Abnormality of the e... |
ORPHA:2673 |
| Mucoepithelial Dysplasia, Hereditary |
|
Alopecia, Cataract, Keratoconjunctivitis, Coarse hair, Nail dystrophy, Opacification of the corne... |
OMIM:158310 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Abnormal pupil morphology, Calcaneovalgus deformity, Microcornea, Long hallux, Iris coloboma, Lon... |
ORPHA:261552 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Alopecia, Hypoplastic fingernail, Hyperconvex fingernails, Skin vesicle, Ptosis |
ORPHA:257 |
| Atypical Werner Syndrome |
|
Abnormal hair quantity, Abnormality of retinal pigmentation, Alopecia, Short palm, Rocker bottom ... |
ORPHA:79474 |
| Coach Syndrome 3 |
|
Ptosis |
OMIM:619113 |
| Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Postaxial polydactyly, Sparse eyebrow, Post... |
OMIM:605627 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Sunct Syndrome |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:57145 |
| Peters Plus Syndrome |
|
Cataract, Corneal opacity, Toe syndactyly, Micromelia, Rhizomelia, Short toe, Optic atrophy, Micr... |
ORPHA:709 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Upslanted palpebral fissure, Ptosis, Dystonia |
OMIM:617854 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Dubowitz Syndrome |
|
Sparse scalp hair, Syndactyly, Ptosis, Epicanthus, Single transverse palmar crease, Telecanthus, ... |
OMIM:223370 |
| Developmental And Epileptic Encephalopathy 110 |
|
Small hand, Ptosis |
OMIM:620149 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Coxa vara, Hypoplasia of the capital femoral epiphysis, Irregular epiphyses, Short femoral neck, ... |
OMIM:313400 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Tapered finger, Blepharophimosis, Long fingers, Synophrys, Low anterior hairline, 2-3... |
OMIM:616734 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Pierson Syndrome |
|
Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Hypoplasia of the iris... |
OMIM:609049 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Tapered finger, Myopic astigmatism, Synophrys, Limited elbow extension, Hip dislocati... |
OMIM:301066 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Hallux valgus, Papilledema, Corneal opacity, Skin ulcer, Ecchymosis, Ptosis |
ORPHA:2072 |
| Lymphedema-Distichiasis Syndrome |
|
Ptosis, Patent ductus arteriosus, Corneal ulceration, Conjunctivitis, Recurrent corneal erosions,... |
OMIM:153400 |
| Juvenile Glaucoma |
|
Optic neuropathy, Abnormality iris morphology, Increased cup-to-disc ratio, Temporal optic disc p... |
ORPHA:98977 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ptosis, Dystonia |
OMIM:614487 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Sandal gap, Rocker bottom foot, Proximal placement of thumb, Tapered finger, Short th... |
OMIM:613458 |
| Marden-Walker Syndrome |
|
Epicanthus, Arachnodactyly, Radioulnar synostosis, Talipes equinovarus, Camptodactyly, Blepharoph... |
OMIM:248700 |
| Joubert Syndrome 8 |
|
Occipital encephalocele, Optic disc pallor, Ptosis |
OMIM:612291 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Ptosis, Acetabular dysplasia, Low posterior hairline |
OMIM:616549 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Broad hallux, Sandal gap, Synophrys, Hip dysplasia, Astigmatism, Cutaneous finger syndactyly, Dow... |
OMIM:616078 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Patent ductus arteriosus, Hydrocephalus, Downslanted palpebral fissures, Ptosis |
OMIM:104350 |
| Arboleda-Tham Syndrome |
|
Conjunctivitis, Sparse medial eyebrow, Genu varum, Highly arched eyebrow, Short hallux, Enlarged ... |
OMIM:616268 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Epicanthus, Abnormal number of hair whorls, Redundant neck skin, Optic atrophy, Clinodactyly, Ptosis |
OMIM:618164 |
| Mowat-Wilson Syndrome |
|
Cataract, Aganglionic megacolon, Patent ductus arteriosus, Microcornea, Ectopia pupillae, Chorior... |
OMIM:235730 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, 2-3 toe cutaneous syndactyly, Upslanted palpebral fissure, Short foot, Clinodactyly o... |
OMIM:300260 |
| Histiocytoid Cardiomyopathy |
|
Corneal opacity, Optic atrophy, Pallor, Megalocornea, Congenital aphakia |
ORPHA:137675 |
| Pseudo-Torch Syndrome 1 |
|
Cataract, Petechiae, Opacification of the corneal stroma, Dystonia |
OMIM:251290 |
| Wolfram Syndrome |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
| Van Maldergem Syndrome 1 |
|
Epicanthus, Subcortical band heterotopia, Simplified gyral pattern, Gray matter heterotopia, Blep... |
OMIM:601390 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ptosis, Intention tremor |
OMIM:618170 |
| Distal Deletion 3P |
|
Epicanthus, Telecanthus, Blepharophimosis, Postaxial hand polydactyly, Clinodactyly of the 5th fi... |
ORPHA:1620 |
| Polyarteritis Nodosa |
|
Erythema, Skin ulcer |
ORPHA:767 |
| Mucopolysaccharidosis, Type Iva |
|
Ulnar deviation of the wrist, Coxa valga, Epiphyseal deformities of tubular bones, Metaphyseal wi... |
OMIM:253000 |
| Refsum Disease, Classic |
|
Short fourth metatarsal, Cataract, Ptosis |
OMIM:266500 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Curly hair, Sparse scalp hair, Epicanthus, Loose anagen hair, Astigmatism, Long eyelashes, Multip... |
OMIM:607721 |
| Jacobsen Syndrome |
|
Broad hallux phalanx, Finger syndactyly, Cataract, Toe syndactyly, Epicanthus, Ectropion, Short t... |
ORPHA:2308 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Ptosis, Redundant neck skin, Overlapping toe, Optic atrophy, Downslanted palpebral fissures, Smal... |
OMIM:123790 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Cataract, Facial palsy, Hand tremor, Ptosis |
OMIM:157640 |
| Rutherfurd Syndrome |
|
Corneal dystrophy, Opacification of the corneal stroma |
OMIM:180900 |
| Holoprosencephaly 4 |
|
Ptosis, Semilobar holoprosencephaly |
OMIM:142946 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:139417 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Ptosis, Brachydactyly, Telecanthus, Epicanthus, Highly arched eyebrow, Broad 2nd toe, Palmoplanta... |
OMIM:280000 |
| Dermochondrocorneal Dystrophy |
|
Subepithelial corneal opacities, Corneal dystrophy, Abnormality of the hand, Anterior cortical ca... |
OMIM:221800 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ptosis, Dystonia |
ORPHA:313772 |
| Encephalocraniocutaneous Lipomatosis |
|
Alopecia, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, A... |
ORPHA:2396 |
| Mungan Syndrome |
|
Abnormality of the autonomic nervous system, Bilateral ptosis |
OMIM:611376 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Alopecia, Cataract, Abnormal fingernail morphology, Hypopigmented skin patches, Opacification of ... |
ORPHA:3453 |
| Fraser Syndrome 1 |
|
Absent eyebrow, Aplasia/Hypoplasia of the thumb, Corneal opacity, Absent eyelashes, Aplasia/Hypop... |
OMIM:219000 |
| Aymé-Gripp Syndrome |
|
Sparse scalp hair, Cataract, Rocker bottom foot, Tapered finger, Bilateral ptosis, Developmental ... |
ORPHA:1272 |
| Norrie Disease |
|
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... |
ORPHA:649 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Fabry Disease |
|
Conjunctival telangiectasia, Cataract, Corneal opacity, Corneal dystrophy, Optic atrophy, Abnorma... |
ORPHA:324 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Abnormality of retinal pigmentation, Corneal opacity, Abnormal nasolacrimal system morphology, Sc... |
ORPHA:2556 |
| Autosomal Dominant Robinow Syndrome |
|
Micromelia, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger syndactyly, Alopecia, C... |
ORPHA:3107 |
| Choreoacanthocytosis |
|
Resting tremor, Head titubation, Blepharospasm, Abnormal autonomic nervous system physiology, Lim... |
ORPHA:2388 |
| Limb Body Wall Complex |
|
Duplication of hand bones, Corneal opacity, Broad hallux, Aplasia/hypoplasia involving bones of t... |
ORPHA:2369 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Hand muscle atrophy, Ptosis, Facial palsy, Cranial nerve motor loss |
OMIM:211530 |
| Cohen-Gibson Syndrome |
|
Epicanthus, Cataract, Thin nail, Coxa valga, Long fingers, Flared metaphysis, Melanocytic nevus, ... |
OMIM:617561 |
| Meckel Syndrome |
|
Bowing of the long bones, Cataract, Abnormal chorioretinal morphology, Sclerocornea, Preaxial han... |
ORPHA:564 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Acral ulceration, Decreased amplitude of sensory actio... |
OMIM:256840 |
| Codas Syndrome |
|
Short humerus, Short metacarpal, Congenital hip dislocation, Cataract, Metaphyseal dysplasia, Pro... |
OMIM:600373 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Palmoplantar cutis gyrata, Optic atrophy, Melanocytic nevus, Palmoplantar keratoderma, Downslante... |
ORPHA:1555 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Ptosis |
OMIM:611705 |
| Craniosynostosis 6 |
|
Spina bifida occulta, Ptosis |
OMIM:616602 |
| Scarf Syndrome |
|
Epicanthus, Low anterior hairline, Low posterior hairline, Cutis laxa, Short sternum, Hypoplastic... |
OMIM:312830 |
| X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1131 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Ptosis |
OMIM:615838 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Overlapping toe, Proximal placement of thumb, Highly arched eyebrow, Sparse eyebrow, Tapered fing... |
ORPHA:487796 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Ptosis, Overlapping toe, Tapered finger, Epicanthus inversus, Optic atrophy, Small hand, Low post... |
OMIM:309590 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Brachydactyly, Epicanthus, Telecanthus, Hypertrichosis, Upslanted palpebral fissure, Contracture ... |
OMIM:618050 |
| Tukel Syndrome |
|
Syndactyly, Ptosis, Congenital fibrosis of extraocular muscles, Carpal synostosis, Carpal bone ap... |
OMIM:609428 |
| Fucosidosis |
|
Corneal opacity, Abnormality of the nail |
ORPHA:349 |
| Beta-Thalassemia Major |
|
Bowing of the long bones, Skin ulcer, Genu valgum, Upslanted palpebral fissure, Pallor, Hyperpigm... |
ORPHA:231214 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Ptosis, Epicanthus, Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's ... |
ORPHA:306542 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Mucopolysaccharidosis, Type Ii |
|
Papilledema, Abnormality of retinal pigmentation, Split hand, Hypertrichosis, Ptosis |
OMIM:309900 |
| Hutchinson-Gilford Progeria Syndrome |
|
Absent eyebrow, Corneal opacity, Alopecia totalis, Hypermelanotic macule, Coxa valga, Limited wri... |
ORPHA:740 |
| Holoprosencephaly |
|
Ptosis, Epicanthus, Highly arched eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure,... |
ORPHA:2162 |
| Lateral Meningocele Syndrome |
|
Epicanthus, Meningocele, Downslanted palpebral fissures, Iris coloboma, Ptosis |
ORPHA:2789 |
| Amoebiasis Due To Free-Living Amoebae |
|
Facial palsy, Skin ulcer, Corneal perforation, Conjunctival hyperemia, Corneal ulceration |
ORPHA:68 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Ptosis, Short metacarpal, Brachydactyly, Epicanthus, Redundant neck skin, Optic disc coloboma, Sh... |
OMIM:617157 |
| Chronic Mucocutaneous Candidiasis |
|
Abnormal fingernail morphology, Erythema, Broad nail, Skin ulcer, Abnormal toenail morphology, Ab... |
ORPHA:1334 |
| Rhyns Syndrome |
|
Brachydactyly, Radial bowing, Short long bone, Short femoral neck, Ptosis |
OMIM:602152 |
| Synaptic Congenital Myasthenic Syndromes |
|
Scapular winging, Facial palsy, Limited wrist extension, Hand muscle weakness, Bilateral ptosis, ... |
ORPHA:98915 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Ptosis |
OMIM:609286 |
| Spinocerebellar Ataxia Type 36 |
|
Intention tremor, Ptosis, Hand tremor, Head tremor |
ORPHA:276198 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Ptosis, Aganglionic megacolon, Dystonia |
OMIM:300352 |
| 3Mc Syndrome 2 |
|
Ptosis, Torticollis, Highly arched eyebrow, Limited elbow movement, Hip dislocation, Radioulnar s... |
OMIM:265050 |
| Wilson Disease |
|
Kayser-Fleischer ring, Abnormality of the hand |
ORPHA:905 |
| Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Hypoplastic toenails, 2-3 toe syndactyly, Large hands, Long eyelashe... |
OMIM:606232 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Tremor, Facial palsy, Ptosis |
OMIM:619424 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Sparse lateral eyebrow |
OMIM:619955 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa, Ptosis |
OMIM:314400 |
| Emanuel Syndrome |
|
Congenital hip dislocation, Hooded eyelid, Redundant neck skin, Upslanted palpebral fissure, Asti... |
ORPHA:96170 |
| Leigh Syndrome |
|
Ptosis, Alopecia, Cataract, Optic atrophy, Choreoathetosis, Athetosis, Dystonia, Frontal hirsutis... |
ORPHA:506 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Telecanthus, Polydactyly, Downslanted palpebral fissures, Sparse lateral eyebrow, Ptosis |
ORPHA:314655 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Short fourth metatarsal, Epicanthus, Overlapping toe, Bilateral ptosis, Synophrys, Bilateral camp... |
OMIM:619557 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Shoulder girdle muscle weakness, Facial palsy, Ptosis |
ORPHA:98905 |
| Rubinstein-Taybi Syndrome 1 |
|
Single transverse palmar crease, Low anterior hairline, Hypoplastic iliac wing, Prominent fingert... |
OMIM:180849 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Broad hallux, Narrow palm, 2-3 toe syndactyly, Astigmatism, Joint contracture of the ... |
OMIM:619934 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Microcornea, Opacification of the corneal stroma, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Redundant skin, Erythema, Clubbing, Osteolytic defects of the phalanges of the hand, Palmoplantar... |
OMIM:259100 |
| Myopathy, Myofibrillar, 8 |
|
Scapular winging, Joint contracture of the 5th finger, Ptosis |
OMIM:617258 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Ptosis |
OMIM:616239 |
| Acromelic Frontonasal Dysplasia |
|
Telecanthus, Patellar hypoplasia, Talipes equinovarus, Preaxial foot polydactyly, Abnormal toenai... |
ORPHA:1827 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Recurrent shoulder dislocation, Down-sloping shoulders, Finger joint contracture, Short clavicles... |
OMIM:212112 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Short foot, Upslanted palpebral fissure, Clinodactyly of the 5th finger, Oligodactyly, Ptosis |
OMIM:619758 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Optic... |
ORPHA:217085 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
| Pituitary Apoplexy |
|
Mydriasis, Ptosis |
ORPHA:95613 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Keratoconus, Epicanthus, Congenital hip dislocation, Arachnodactyly, Protrusio acetabuli, Microco... |
OMIM:225400 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Hyperextensibility of the finger joints, Long palm, Single transverse palmar crease, Sparse eyebr... |
OMIM:309583 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly of finger, Optic... |
ORPHA:217093 |
| Toxic Epidermal Necrolysis |
|
Entropion, Corneal erosion, Erythema, Skin ulcer, Conjunctivitis |
ORPHA:537 |
| Vascular Ehlers-Danlos Syndrome |
|
Keratoconus, Dermal translucency, Alopecia, Congenital hip dislocation, Telecanthus, Hypoplastic ... |
ORPHA:286 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Hip dysplasia, Dystonia, Intention tremor, Ptosis |
ORPHA:466722 |
| Osteogenesis Imperfecta |
|
Bowing of the long bones, Corneal opacity, Rhizomelia, Micromelia, Protrusio acetabuli, Fractures... |
ORPHA:666 |
| Polyvalvular Heart Disease Syndrome |
|
Ptosis |
ORPHA:228410 |
| Congenital Myopathy 17 |
|
Telecanthus, Overlapping toe, Tapered finger, Hand clenching, Overlapping fingers, Clinodactyly, ... |
OMIM:618975 |
| Ayme-Gripp Syndrome |
|
Sparse scalp hair, Ptosis, Tapered finger, Developmental cataract, Upslanted palpebral fissure, R... |
OMIM:601088 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Short 4th metacarpal, Short clavicles, Ptosis |
OMIM:606220 |
| 22Q11.2 Duplication Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1727 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ptosis |
OMIM:609654 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Oculoectodermal Syndrome |
|
Epicanthus, Supernumerary nipple, Hyperpigmented streaks, Chorioretinal atrophy, Microcornea, Eye... |
OMIM:600268 |
| Menke-Hennekam Syndrome 1 |
|
Epicanthus, Cataract, Broad hallux, Overlapping toe, Sandal gap, Telecanthus, Blepharophimosis, U... |
OMIM:618332 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Hallux valgus, Single transverse palmar crease, Slender long bone, Camptodactyly, Clinodactyly, L... |
OMIM:613385 |
| Juvenile Dermatomyositis |
|
Alopecia, Palpebral edema, Erythema, Skin ulcer, Dry skin |
ORPHA:93672 |
| Pontine Tegmental Cap Dysplasia |
|
Head titubation, Facial palsy, Ptosis |
OMIM:614688 |
| Lathosterolosis |
|
Epicanthus, Toe syndactyly, Cataract, Postaxial hand polydactyly, Postaxial foot polydactyly, Tal... |
OMIM:607330 |
| Granulomatosis With Polyangiitis |
|
Keratitis, Skin ulcer, Conjunctivitis, Uveitis |
OMIM:608710 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Ptosis, Telecanthus, Arachnodactyly, Metatarsus adductus, Metaphyseal widening, Genu valgum, Shal... |
OMIM:182212 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Facial diplegia, Ptosis |
ORPHA:521411 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
| Gabriele-De Vries Syndrome |
|
Hallux valgus, Telecanthus, Sydney crease, Sandal gap, Lacrimal duct stenosis, Tremor, Sparse eye... |
ORPHA:506358 |
| Noonan Syndrome 2 |
|
Curly hair, Epicanthus, Sparse eyebrow, Low posterior hairline, Palmoplantar cutis laxa, Cubitus ... |
OMIM:605275 |
| Monosomy 13Q14 |
|
Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Ptosis, Epicanthus, Clinodactyly of... |
ORPHA:1587 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Facial palsy, Ptosis |
OMIM:617143 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Optic atrophy, Ptosis |
ORPHA:254930 |
| Systemic Sclerosis |
|
Abnormal phalangeal joint morphology of the hand, Alopecia, Nail bed telangiectasia, Spotty hypop... |
ORPHA:90291 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal autonomic nervous system physiology, Brachydactyly |
ORPHA:293987 |
| Wilson Disease |
|
Dystonia, Decreased nerve conduction velocity, Tremor, Hand tremor, Kayser-Fleischer ring, Limb d... |
OMIM:277900 |
| Myhre Syndrome |
|
Ptosis, Brachydactyly, Cataract, Blepharophimosis, Abnormal epiphysis morphology, Short palm, Lar... |
ORPHA:2588 |
| Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Ptosis |
ORPHA:1915 |
| Tyshchenko Syndrome |
|
Low anterior hairline, Thick hair, Supernumerary nipple, Ptosis |
OMIM:615102 |
| Mucopolysaccharidosis Type 6 |
|
Epiphyseal dysplasia, Abnormal metaphysis morphology, Opacification of the corneal stroma, Genu v... |
ORPHA:583 |
| Microscopic Polyangiitis |
|
Erythema, Skin ulcer, Uveitis |
ORPHA:727 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Clubbing, Foot acroosteolysis, Periosteal thickening o... |
OMIM:161700 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse scalp hair, Brachydactyly, Supernumerary nipple, Tapered finger, Hypoplastic toenails, Spa... |
ORPHA:477993 |
| Myasthenia Gravis |
|
Facial palsy, Ptosis |
OMIM:254200 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ptosis |
ORPHA:352447 |
| Pgm3-Cdg |
|
Narrow palpebral fissure, Skin ulcer, Brachydactyly |
ORPHA:443811 |
| Cornelia De Lange Syndrome |
|
Micromelia, Proximal placement of thumb, Synophrys, Low anterior hairline, Microcornea, Clinodact... |
ORPHA:199 |
| Primary Sjögren Syndrome |
|
Purpura, Abnormality of the peripheral nervous system, Skin ulcer, Keratoconjunctivitis sicca, Co... |
ORPHA:289390 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ptosis |
OMIM:619046 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Supernumerary nipple, Highly arched eyebrow, Hypoplastic toenails, Tapered finger, Synophrys, Sho... |
OMIM:616728 |
| Cree Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Downslanted palpebral fissures, Rocker bottom foot, Ptosis |
OMIM:606851 |
| Lateral Meningocele Syndrome |
|
Telecanthus, Patent ductus arteriosus, Meningocele, Hydrocephalus, Downslanted palpebral fissures... |
OMIM:130720 |
| Anterior Segment Dysgenesis 1 |
|
Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula... |
OMIM:107250 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ptosis, Alopecia, Shoulder girdle muscle weakness, Subcapsular cataract, Ectropion |
ORPHA:98907 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Curly hair, Ptosis, Cataract, Abnormal fingernail morphology, Thick hair, Highly arched eyebrow, ... |
ORPHA:444077 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Iris coloboma, Sclerocornea |
ORPHA:77298 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Narrow foramen obturatorium, Skin ulcer |
ORPHA:220393 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum |
OMIM:150550 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Ptosis |
OMIM:277320 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Hand muscle atrophy, Ptosis, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Epicanthu... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Hand muscle atrophy, Ptosis, Alopecia, Anomaly of lower limb diaphyses, Arachnodactyly, Epicanthu... |
ORPHA:363958 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Ptosis |
ORPHA:2522 |
| Au-Kline Syndrome |
|
Ptosis, Overlapping toe, Postaxial polydactyly, Supernumerary nipple, Coxa valga, Lagophthalmos, ... |
OMIM:616580 |
| Cranioectodermal Dysplasia 2 |
|
Unilateral ptosis, Syndactyly, Epicanthus, Telecanthus, Rhizomelia, Sparse eyelashes, Blepharophi... |
OMIM:613610 |
| 22Q11.2 Deletion Syndrome |
|
Telecanthus, Cataract, Aganglionic megacolon, Arachnodactyly, Epicanthus, Abnormal eyelid morphol... |
ORPHA:567 |
| Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Patent ductus arteriosus, Mydriasis |
OMIM:613834 |
| Williams Syndrome |
|
Hallux valgus, Epicanthus, Flat cornea, Corneal opacity, Cataract, Abnormal fingernail morphology... |
ORPHA:904 |
| Mucopolysaccharidosis Type 2 |
|
Papilledema, Abnormality of retinal pigmentation, Corneal opacity, Decreased nerve conduction vel... |
ORPHA:580 |
| Pachydermoperiostosis |
|
Abnormal hair quantity, Ptosis, Abnormal fingernail morphology, Abnormal hair pattern, Small hand... |
ORPHA:2796 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Ptosis, Epicanthus, Broad hallux, Single transverse palmar crease, Highly arched eyebrow, Synophr... |
OMIM:617062 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Cataract, Facial palsy, Tremor, Facial diplegia, Shoulder girdle muscle weakness,... |
ORPHA:254892 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Gray matter heterotopia, Astigmatism, Holoprosencephaly,... |
OMIM:618820 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Hyperpigmented streaks, Sclerocornea |
OMIM:300952 |
| Hunter-Macdonald Syndrome |
|
Epiphyseal dysplasia, Blepharophimosis, Metatarsus adductus, 2-3 toe syndactyly, Upslanted palpeb... |
OMIM:611962 |
| Saethre-Chotzen Syndrome |
|
Hallux valgus, Syndactyly, Absent first metatarsal, Toe syndactyly, Partial duplication of the di... |
OMIM:101400 |
| Retinoblastoma |
|
Hypopyon, Heterochromia iridis, Leukocoria, Uveitis |
ORPHA:790 |
| Costello Syndrome |
|
Deep-set nails, Curly hair, Hyperextensibility of the finger joints, Epicanthus, Redundant neck s... |
OMIM:218040 |
| Acquired Purpura Fulminans |
|
Pyoderma gangrenosum, Macular purpura |
ORPHA:49566 |
| Immunoglobulin A Vasculitis |
|
Erythema, Optic atrophy, Skin ulcer, Purpura |
ORPHA:761 |
| Microphthalmia, Syndromic 2 |
|
Broad hallux, Sandal gap, Blepharophimosis, 2-3 toe cutaneous syndactyly, 2-3 toe syndactyly, Dev... |
OMIM:300166 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Anterior uveitis, Symblepharon, Trichiasis, Keratitis, Corneal erosion, Skin ulcer, Keratoconjunc... |
ORPHA:95455 |
| Loeys-Dietz Syndrome 5 |
|
Scapular winging, Arachnodactyly, Increased arm span, Downslanted palpebral fissures, Talipes equ... |
OMIM:615582 |
| Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Ptosis |
OMIM:616720 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Autoamputation of digits, Corneal scarring, Acral ulceration, Recurrent corneal erosions, Dystoni... |
OMIM:256810 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Pigmentary retinopathy, Optic atrophy, Ptosis |
ORPHA:436271 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ptosis |
OMIM:613077 |
| Diamond-Blackfan Anemia |
|
Epicanthus, Absent thumb, Short thumb, Developmental glaucoma, Partial duplication of thumb phala... |
ORPHA:124 |
| Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
| Branchiooculofacial Syndrome |
|
Ptosis, Telecanthus, Cataract, Facial palsy, Supernumerary nipple, Single transverse palmar creas... |
OMIM:113620 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Eversion of lateral third of lower eyelids, Ptosis |
ORPHA:364028 |
| Cushing Disease |
|
Sparse scalp hair, Striae distensae, Hirsutism, Skin ulcer, Ecchymosis, Optic nerve compression, ... |
ORPHA:96253 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ptosis, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contracture, Proximal up... |
ORPHA:98863 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contracture, Proximal up... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal muscle weakness in upper limbs, Scapular winging, Elbow flexion contracture, Proximal up... |
ORPHA:98853 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Unilateral ptosis, Broad hallux, 1-2 toe syndactyly, Highly arched eyebrow, Tapered finger, Synop... |
OMIM:301044 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Abnormality of retinal pigmentation, Finger syndactyly, Ptosis, Melanocytic nevus, Multiple cafe-... |
ORPHA:1969 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Cataract, Single transverse palmar crease, Sclerocornea, Pigmentary retinopathy, Peters anomaly, ... |
OMIM:309801 |
| Proteus Syndrome |
|
Central heterochromia, Abnormal finger morphology, Abnormality of skin pigmentation, Chorioretina... |
ORPHA:744 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Highly arched eyebrow, Fine hair, Low posterior hairline, Finger joint hypermobility,... |
OMIM:613563 |
| Insulin-Like Growth Factor I Deficiency |
|
Clinodactyly of the 5th finger, Ptosis |
OMIM:608747 |
| Beck-Fahrner Syndrome |
|
Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Sparse scalp hair, Thick eyebrow, Syndactyly, Scapular winging, Single transverse palmar crease, ... |
OMIM:150230 |
| Coffin-Siris Syndrome 1 |
|
Dry hair, Single transverse palmar crease, Prominent interphalangeal joints, Prominent fingertip ... |
OMIM:135900 |
| Ring Chromosome 7 Syndrome |
|
Unilateral ptosis, Epicanthus, Single transverse palmar crease, Highly arched eyebrow, Bilateral ... |
ORPHA:1449 |
| Cdags Syndrome |
|
Sparse scalp hair, Ectropion, Sparse eyelashes, Sparse eyebrow, Short clavicles, Ptosis |
OMIM:603116 |
| Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Cataract, Aganglionic megacolon, Overlapping toe, Micromelia, Proximal placement of t... |
OMIM:270400 |
| Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Small hand, Hip dislocation, Microcornea, Long eyelashes, Short mi... |
ORPHA:2322 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
| Wiskott-Aldrich Syndrome |
|
Keratitis, Skin ulcer, Conjunctivitis, Blepharitis, Petechiae, Purpura |
ORPHA:906 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Hyperextensibility of the finger joints, Arachnodactyly, Broad thumb, Ptosis |
OMIM:309520 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Fusariosis |
|
Keratitis, Paronychia, Skin ulcer |
ORPHA:228119 |
| Shprintzen-Goldberg Syndrome |
|
Bowing of the long bones, Telecanthus, Arachnodactyly, Camptodactyly of finger, Elbow dislocation... |
ORPHA:2462 |
| Charge Syndrome |
|
Ptosis, Brachydactyly, Epicanthus, Facial palsy, Highly arched eyebrow, Abnormal tibia morphology... |
ORPHA:138 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Pigmentary retinopathy, Optic atrophy, Ptosis |
OMIM:220110 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Astigmatism, Ptosis |
OMIM:617713 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Epicanthus, Astigmatism, Clinodactyly of the 5th finger, Downslanted palpebral fissures, Thick ey... |
ORPHA:369950 |
| Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy, Ptosis |
OMIM:609037 |
| Coffin-Siris Syndrome |
|
Sparse scalp hair, Thick eyebrow, Ptosis, Hypoplastic fifth fingernail, Prominent eyelashes, Low ... |
ORPHA:1465 |
| Neurofibromatosis-Noonan Syndrome |
|
Inguinal freckling, Epicanthus, Axillary freckling, Low posterior hairline, Lisch nodules, Multip... |
OMIM:601321 |
| Doors Syndrome |
|
Epicanthus, Cataract, Abnormal fingernail morphology, Aplasia/Hypoplasia of the phalanges of the ... |
ORPHA:79500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Facial palsy, Ptosis |
OMIM:610131 |
| Fetal Akinesia Deformation Sequence 1 |
|
Hip contracture, Ptosis, Ulnar deviation of the hand, Telecanthus, Rocker bottom foot, Camptodact... |
OMIM:208150 |
| Microphthalmia, Syndromic 3 |
|
Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea |
OMIM:206900 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Acral ulceration, Hand tremor |
OMIM:608654 |
| Vici Syndrome |
|
Hypopigmentation of hair, Cataract, Epicanthus, Albinism, Ocular albinism, Developmental cataract... |
OMIM:242840 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Ptosis |
OMIM:251900 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Cataract, Ptosis |
ORPHA:70595 |
| Chronic Granulomatous Disease |
|
Hypermelanotic macule, Skin ulcer |
ORPHA:379 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Skin ulcer, Purpura |
OMIM:615688 |
| Degcags Syndrome |
|
Synophrys, Low anterior hairline, Abnormality of skin pigmentation, Premature graying of hair, Pa... |
OMIM:619488 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
| Congenital Myasthenic Syndrome |
|
Ptosis, Congenital hip dislocation, Frontalis muscle weakness |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Ptosis, Congenital hip dislocation, Frontalis muscle weakness |
ORPHA:98914 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Spinocerebellar Ataxia 36 |
|
Ptosis |
OMIM:614153 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Arm dystonia, Ptosis |
ORPHA:88644 |
| Autosomal Dominant Centronuclear Myopathy |
|
Proximal muscle weakness in upper limbs, Ptosis |
ORPHA:169189 |
| Oculogastrointestinal Muscular Dystrophy |
|
Ptosis |
ORPHA:1876 |
| Microphthalmia, Syndromic 6 |
|
Finger syndactyly, Thumb contracture, Toe syndactyly, Single transverse palmar crease, Sclerocorn... |
OMIM:607932 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Opacification of the corneal stroma |
ORPHA:425 |
| Dermatomyositis |
|
Abnormal hair quantity, Abnormal eyelid morphology, Erythema, Skin ulcer, Dry skin, Abnormality o... |
ORPHA:221 |
| Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
| 17Q24.2 Microdeletion Syndrome |
|
Thick eyebrow, Synophrys, Upper limb undergrowth, Cubitus valgus, Abnormality of the wrist, Downs... |
ORPHA:529962 |
| Parkes Weber Syndrome |
|
Abnormal femoral metaphysis morphology, Skin ulcer, Hypertrophy of the upper limb, Abnormality of... |
ORPHA:90307 |
| Noonan Syndrome |
|
Abnormal hair quantity, Ptosis, Low posterior hairline, Melanocytic nevus, Coarse hair, Radioulna... |
ORPHA:648 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer |
ORPHA:86884 |
| Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Patent ductus arteriosus, Mydriasis |
OMIM:619351 |
| Chronic Graft Versus Host Disease |
|
Alopecia, Erythema, Skin ulcer, Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Ony... |
ORPHA:99921 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Astigmatism, Hooded upper eyelid, Ptosis |
OMIM:618548 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Distal amyotrophy, Ragged-red muscle fibers, Allodynia |
OMIM:603041 |
| Coffin-Siris Syndrome 4 |
|
Sparse scalp hair, Ptosis, Prominent interphalangeal joints, Short phalanx of the 5th toe, Long e... |
OMIM:614609 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Ptosis, Brachydactyly, Short palm |
ORPHA:3217 |
| Reni Syndrome |
|
Hyperpigmentation of the skin, Ptosis |
OMIM:617575 |
| Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Ptosis |
ORPHA:2728 |
| Noonan Syndrome With Multiple Lentigines |
|
Scapular winging, Melanocytic nevus, Excessive wrinkled skin, Multiple lentigines, Freckling, Ptosis |
ORPHA:500 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Postaxial polydactyly, Supernumerary nipple, Hip dysplasia, Talipes equin... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Postaxial polydactyly, Supernumerary nipple, Hip dysplasia, Talipes equin... |
ORPHA:352665 |
| Meckel Syndrome, Type 1 |
|
Syndactyly, Bowing of the long bones, Camptodactyly of finger, Postaxial polydactyly, Postaxial h... |
OMIM:249000 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Short 5th metacarp... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Short 5th metacarp... |
ORPHA:99228 |
| Monosomy X |
|
Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Short 5th metacarp... |
ORPHA:99226 |
| Six2-Related Frontonasal Dysplasia |
|
Epicanthus inversus, Ptosis |
ORPHA:488437 |
| Turner Syndrome |
|
Hypoplastic toenails, Dermatoglyphic ridges abnormal, Hyperconvex fingernails, Short 5th metacarp... |
ORPHA:881 |
| Oculopharyngodistal Myopathy 1 |
|
Tremor, Bilateral ptosis, Facial palsy, Ptosis |
OMIM:164310 |
| Gaucher Disease |
|
Tremor, Abnormality of skin pigmentation, Corneal opacity |
ORPHA:355 |
| Peters-Plus Syndrome |
|
Single transverse palmar crease, Limited elbow movement, Proximal placement of thumb, Short metat... |
OMIM:261540 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Clubbing of fingers, Periosteal thickening of long tubular bones |
OMIM:167100 |
| Microphthalmia, Syndromic 1 |
|
Syndactyly, Aganglionic megacolon, Abnormal palmar dermatoglyphics, Down-sloping shoulders, Optic... |
OMIM:309800 |
| Arima Syndrome |
|
Postaxial hand polydactyly, Optic atrophy, Postaxial foot polydactyly, Chorioretinal coloboma, Pt... |
OMIM:243910 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Short humerus, Short femur, Choreoathetosis, Polydactyly, Dystonia, Ptosis |
ORPHA:17 |
| Congenital Myopathy 13 |
|
Telecanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:255995 |
| Specc1L-Related Hypertelorism Syndrome |
|
Finger syndactyly, Ptosis, Highly arched eyebrow, Widow's peak, Short toe, Clinodactyly of the 5t... |
ORPHA:1519 |
| Isolated Complex I Deficiency |
|
Optic disc pallor, Optic neuropathy, Ptosis |
ORPHA:2609 |
| Plague |
|
Abnormality of the elbow, Skin ulcer, Conjunctival hyperemia, Dry skin, Mydriasis |
ORPHA:707 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Syndactyly, Ptosis, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trich... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Syndactyly, Ptosis, Cataract, Broad hallux, Deviation of the hallux, Highly arched eyebrow, Trich... |
ORPHA:353277 |
| Noonan Syndrome 1 |
|
Ptosis, Epicanthus, Woolly hair, Dry skin, Low posterior hairline, Radial deviation of finger, Cu... |
OMIM:163950 |
| Non-Functioning Pituitary Adenoma |
|
Abnormal hair quantity, Pallor, Ptosis |
ORPHA:91349 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ptosis |
OMIM:615453 |
| Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Retinal pigment epithelial mottling, Scapular winging, Cataract, Ptosis |
OMIM:607459 |
| Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
| Sweet Syndrome |
|
Skin vesicle, Pyoderma gangrenosum, Abnormality of the hand |
ORPHA:3243 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Ptosis, Clinodactyly, Camptodactyly |
ORPHA:228426 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis |
OMIM:159400 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ptosis, Dystonia |
OMIM:614924 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Cataract, Optic atrophy, Buphthalmos, Pallor, Opacification of the corneal stroma, Megalocornea |
OMIM:253280 |
| Okamoto Syndrome |
|
Ptosis, Redundant neck skin, Extension of hair growth on temples to lateral eyebrow, Hip dysplasi... |
ORPHA:2729 |
| Kearns-Sayre Syndrome |
|
Ptosis |
OMIM:530000 |
| Faciocardiomelic Syndrome |
|
Telecanthus, Slender long bone, Polydactyly, Short eyelashes, Hypoplastic pelvis, Ptosis |
OMIM:612731 |
| Abetalipoproteinemia |
|
Abnormality of retinal pigmentation, Keratoconjunctivitis sicca, Talipes equinovarus, Corneal ulc... |
ORPHA:14 |
| Malignant Atrophic Papulosis |
|
Cataract, Ptosis |
ORPHA:679 |
| Kallmann Syndrome |
|
Tremor, Breast hypoplasia, Ptosis |
ORPHA:478 |
| Scorpion Envenomation |
|
Tremor, Purpura, Erythema, Mydriasis |
ORPHA:466677 |
| Aicardi-Goutières Syndrome |
|
Tremor, Developmental glaucoma, Eyelid coloboma, Dystonia, Dry skin, Ptosis |
ORPHA:51 |
| Prolactinoma |
|
Abnormal hair quantity, Pallor, Ptosis |
ORPHA:2965 |
| Cocaine Intoxication |
|
Tremor, Mydriasis |
ORPHA:90068 |
| Joubert Syndrome 21 |
|
Encephalocele, Occipital encephalocele, Optic atrophy, Megalopapilla, Ptosis |
OMIM:615636 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Ptosis, Epicanthus, Tapered finger, Optic atrophy, Genu valgum, Upslanted palpebral fissure, Tali... |
OMIM:309580 |
| Marden-Walker Syndrome |
|
Arachnodactyly, Camptodactyly of finger, Metatarsus adductus, Radioulnar synostosis, Blepharophim... |
ORPHA:2461 |
| Kabuki Syndrome 1 |
|
Congenital hip dislocation, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Prominent ey... |
OMIM:147920 |
| Monosomy 22Q13.3 |
|
Epicanthus, Palpebral edema, Hypoplastic toenails, Large hands, Long eyelashes, Clinodactyly of t... |
ORPHA:48652 |
| Noonan Syndrome 3 |
|
Epicanthus, Patent ductus arteriosus, Downslanted palpebral fissures, Ptosis |
OMIM:609942 |
| Pallister-Hall Syndrome |
|
Mesoaxial polydactyly, Broad toe, Toe syndactyly, Overlapping toe, Radial bowing, Ptosis, Postaxi... |
ORPHA:672 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Sparse hair, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:300661 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Corneal scarring, Dry skin, Aplasia of the sweat glands, Abnormality of peripheral nerve conducti... |
ORPHA:642 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Upslanted palpebral fissure, Optic disc pallor, Optic neuropathy, Ptosis |
OMIM:252010 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Keratoconus, Epicanthus, Decreased nerve conduction velocity, Elbow dislocation, Hip dislocation,... |
ORPHA:285 |
| Pallister-Killian Syndrome |
|
Congenital hip dislocation, Single transverse palmar crease, Hyperpigmented streaks, Hypopigmente... |
OMIM:601803 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Syndactyly, Long toe, Cataract, Aganglionic megacolon, Ulnar deviation of the hand... |
ORPHA:261537 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Ptosis |
OMIM:146255 |
| Myasthenia Gravis |
|
Ptosis |
ORPHA:589 |
| Cardiospondylocarpofacial Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Tarsal synostosis, Cone-shaped epiphysis, Short foot, Pseudoepip... |
OMIM:157800 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Patent ductus arteriosus, Highly arched eyebrow, Ptosis |
ORPHA:2282 |
| Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
| Leopard Syndrome 1 |
|
Scapular winging, Epicanthus, Limited elbow movement, Multiple lentigines, Cubitus valgus, Cafe-a... |
OMIM:151100 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Cataract, Facial palsy, Down-sloping shoulders, Abnormal palmar dermatogl... |
OMIM:214800 |
| Opitz Gbbb Syndrome |
|
Patent ductus arteriosus, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:2745 |
| Erdheim-Chester Disease |
|
Xanthelasma, Abnormal metaphysis morphology, Abnormal epiphysis morphology, Ptosis |
ORPHA:35687 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer, Purpura |
ORPHA:900 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Nail dystrophy, Ptosis |
OMIM:615895 |
| Primrose Syndrome |
|
Sparse scalp hair, Hip contracture, Ptosis, Epicanthus, Absent facial hair, Metatarsus adductus, ... |
OMIM:259050 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Optic atrophy, Simplified gyral pattern, Ptosis |
OMIM:614231 |
| Leukocyte Adhesion Deficiency, Type I |
|
Skin ulcer |
OMIM:116920 |
| Malakoplakia |
|
Skin ulcer |
ORPHA:556 |
| Glycogen Storage Disease Xii |
|
Epicanthus, Ptosis |
OMIM:611881 |
| Zygomycosis |
|
Ptosis, Chemosis, Abnormal cranial nerve morphology |
ORPHA:73263 |
| Singleton-Merten Syndrome 1 |
|
Ptosis, Hypoplastic distal radial epiphyses, Coxa valga, Hip dislocation, Osteolytic defects of t... |
OMIM:182250 |
| Tsh-Secreting Pituitary Adenoma |
|
Tremor, Ptosis, Pallor, Abnormal hair quantity |
ORPHA:91347 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis |
ORPHA:100085 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Brittle hair, Cataract, Neonatal death, Ptosis |
OMIM:124000 |
| Pearson Syndrome |
|
Cataract, Corneal stromal edema, Pigmentary retinopathy, Cafe-au-lait spot, Hyperpigmentation of ... |
ORPHA:699 |
| Simple Cryoglobulinemia |
|
Acral ulceration, Purpura |
ORPHA:91139 |
| Good Syndrome |
|
Ptosis |
ORPHA:169105 |
| Split Cord Malformation |
|
Tufted hairs, Talipes cavus equinovarus, Penetrating foot ulcers, Talipes equinovarus, Hyperpigme... |
ORPHA:573278 |
| Kawasaki Disease |
|
Palmoplantar erythema, Abnormality of nail color, Conjunctivitis, Ptosis |
ORPHA:2331 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
|
Sparse scalp hair, Striae distensae, Hirsutism, Skin ulcer, Ecchymosis, Hyperpigmentation of the ... |
ORPHA:99889 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ptosis |
OMIM:620303 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
|
Optic nerve dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
| Gaucher Disease, Type Iiic |
|
Opacification of the corneal stroma |
OMIM:231005 |
| Viss Syndrome |
|
Long toe, Sparse scalp hair, Alopecia, Ectropion, Arachnodactyly, Rocker bottom foot, Hip disloca... |
OMIM:619472 |
| Joubert Syndrome 5 |
|
Occipital encephalocele, Ptosis |
OMIM:610188 |
| Digeorge Syndrome |
|
Blepharophimosis, Posterior embryotoxon, Short palpebral fissure, Sclerocornea |
OMIM:188400 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Ptosis |
OMIM:617239 |
| Adenocarcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424016 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Ptosis |
ORPHA:365 |
| Leukocyte Adhesion Deficiency |
|
Nasolacrimal sac granuloma, Conjunctivitis, Nail dystrophy, Pyoderma gangrenosum |
ORPHA:2968 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
|
Opacification of the corneal stroma |
ORPHA:79280 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Ptosis |
OMIM:618748 |
| Craniofacial Microsomia 1 |
|
Occipital encephalocele, Blepharophimosis, Patent ductus arteriosus, Hydrocephalus, Upper eyelid ... |
OMIM:164210 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
|
|
ORPHA:64752 |
