| Carbimazole Sensitivity |
|
Drug-induced agranulocytosis |
OMIM:212060 |
| Oculomotor-Levator Synkinesis |
|
Ptosis, Abnormal eyelid morphology, Eyelid retraction |
OMIM:151610 |
| Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
|
Optic atrophy, Iris cyst, Ptosis, Epicanthus, Upslanted palpebral fissure |
OMIM:620086 |
| Marcus Gunn Phenomenon |
|
Congenital ptosis, Unilateral ptosis |
OMIM:154600 |
| Pupillary Membrane, Persistence Of |
|
Developmental cataract, Persistent pupillary membrane, Megalocornea |
OMIM:178900 |
| Undritz Anomaly |
|
Hypersegmentation of neutrophil nuclei |
OMIM:191500 |
| Anterior Segment Dysgenesis 8 |
|
Microphakia, Iris transillumination defect, Iridodonesis, Optic nerve dysplasia, Corneal stromal ... |
OMIM:617319 |
| Chronic Myeloid Leukemia |
|
Myeloproliferative disorder, Leukocytosis, Abnormal granulocyte morphology, Thrombocytopenia, Spl... |
ORPHA:521 |
| Ptosis, Hereditary Congenital 1 |
|
Congenital ptosis |
OMIM:178300 |
| Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Corneal opacity, Persistent pupillary membrane, Ptosis, Cataract, Aplasia/Hypoplasia of the iris |
ORPHA:1067 |
| Ptosis, Hereditary Congenital 2 |
|
Ptosis |
OMIM:300245 |
| Immunodeficiency 88 |
|
Eosinophilia |
OMIM:619630 |
| 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 |
|
Corneal opacity, Abnormal pupil morphology |
ORPHA:1661 |
| Anterior Segment Dysgenesis 3 |
|
Abnormal iris vasculature, Axenfeld anomaly, Hypoplastic iris stroma, Rieger anomaly, Posterior e... |
OMIM:601631 |
| Oculomotor-Abducens Synkinesis |
|
Ptosis |
OMIM:619215 |
| Winchester Syndrome |
|
Carpal osteolysis, Hirsutism, Corneal opacity, Broad metacarpals, Osteolysis involving tarsal bones |
OMIM:277950 |
| Riboflavin Transporter Deficiency |
|
Abnormal cranial nerve morphology, Tremor, Facial palsy, Abnormal autonomic nervous system physio... |
ORPHA:97229 |
| Neutropenia, Lethal Congenital, With Eosinophilia |
|
Eosinophilia, Neutropenia |
OMIM:257100 |
| Microphthalmia/Coloboma 10 |
|
Chorioretinal coloboma, Microcoria, Iris coloboma |
OMIM:616428 |
| 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 |
| Parkinsonism-Dystonia 2, Infantile-Onset |
|
Oculogyric crisis, Tremor, Abnormal autonomic nervous system physiology, Ptosis, Dystonia |
OMIM:618049 |
| Insensitivity To Pain, Congenital, With Anhidrosis |
|
Nail dysplasia, Recurrent corneal erosions, Nail dystrophy, Acral ulceration, Corneal ulceration,... |
OMIM:256800 |
| Myasthenic Syndrome, Congenital, 17 |
|
Ptosis |
OMIM:616304 |
| Myeloproliferative Disorder, Chronic, With Eosinophilia |
|
Eosinophilia, Myeloproliferative disorder |
OMIM:131440 |
| Erythrokeratodermia Variabilis |
|
Irregular hyperpigmentation, Hypermelanotic macule, Abnormal hair morphology, Abnormality of the ... |
ORPHA:317 |
| Exfoliation Syndrome |
|
Mydriasis, Phakodonesis, Iris hypoperfusion, Anisocoria, Pigment deposition in the trabecular mes... |
OMIM:177650 |
| Woolly Hair |
|
Hypopigmentation of hair, Brittle hair, Slow-growing hair, Abnormality of hair texture, Woolly ha... |
ORPHA:170 |
| Ophthalmoplegia, Familial Static |
|
Ptosis, Anisocoria |
OMIM:165000 |
| Episodic Pain Syndrome, Familial, 3 |
|
Abnormal autonomic nervous system physiology |
OMIM:615552 |
| Myasthenic Syndrome, Congenital, 15 |
|
Ptosis |
OMIM:616227 |
| Oculopharyngeal Muscular Dystrophy 1 |
|
Ptosis, Facial palsy, Progressive ptosis |
OMIM:164300 |
| 2p15-16.1 microdeletion syndrome |
|
Ptosis, Downslanted palpebral fissures, Telecanthus |
DECIPHER:70 |
| Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
| Mutilating Hereditary Sensory Neuropathy With Spastic Paraplegia |
|
Decreased motor nerve conduction velocity, Skin ulcer, Abnormal autonomic nervous system physiolo... |
ORPHA:139578 |
| Myasthenic Syndrome, Congenital, 8 |
|
Ptosis |
OMIM:615120 |
| Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Corneal opacity, Ptosis, Posterior embryotoxon, Chorioretinal coloboma, Cataract, ... |
ORPHA:1473 |
| Caribbean Parkinsonism |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Action tremor, Dystonia, A... |
ORPHA:97355 |
| Ectopia Lentis Et Pupillae |
|
Iris transillumination defect, Persistent pupillary membrane, Ectopia lentis, Ectopia pupillae, C... |
OMIM:225200 |
| Mitchell Syndrome |
|
Hyporeflexia of upper limbs, Abnormal autonomic nervous system physiology |
OMIM:618960 |
| Iridocorneal Endothelial Syndrome |
|
Polycoria, Iris nevus, Posterior synechiae of the anterior chamber, Corneal stromal edema, Iris a... |
ORPHA:64734 |
| Myasthenic Syndrome, Congenital, 18 |
|
Ptosis |
OMIM:616330 |
| Myasthenic Syndrome, Congenital, 13 |
|
Ptosis |
OMIM:614750 |
| Waardenburg Syndrome Type 2 |
|
Hypopigmented skin patches, Premature graying of hair, Aganglionic megacolon, Telecanthus, Hypopi... |
ORPHA:895 |
| Beta-Propeller Protein-Associated Neurodegeneration |
|
Optic atrophy, Tremor, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:329284 |
| Larsen-Like Osseous Dysplasia-Short Stature Syndrome |
|
Abnormal metaphysis morphology, Clinodactyly of the 5th finger, Abnormal metacarpal morphology, C... |
ORPHA:2370 |
| Woolly Hair Nevus |
|
Woolly scalp hair, Persistent pupillary membrane, Heterochromia iridis, Curly hair, Congenital po... |
ORPHA:79414 |
| Aniridia 1 |
|
Bilateral ptosis, Corneal neovascularization, Aniridia, Corneal erosion, Optic nerve hypoplasia, ... |
OMIM:106210 |
| Orthostatic Intolerance |
|
Orthostatic tachycardia |
OMIM:604715 |
| Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Rocker bottom foot, Abnormal anterior horn cell morphology, Single transverse palmar crease, Faci... |
OMIM:611890 |
| Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Ptosis, Facial palsy |
OMIM:617732 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
|
Abnormal lacrimal duct morphology, Synophrys, Ptosis, Epicanthus, Blepharophimosis |
ORPHA:126 |
| Corneal Dystrophy, Endothelial, X-Linked |
|
Band keratopathy, Corneal dystrophy, Corneal opacity |
OMIM:300779 |
| Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Ptosis, Abnormal autonomic nervous system physiology |
OMIM:610743 |
| Charcot-Marie-Tooth Disease Type 1B |
|
Decreased nerve conduction velocity, Abnormal pupil morphology |
ORPHA:101082 |
| Corneal Dystrophy, Posterior Polymorphous, 2 |
|
Corneal dystrophy, Corneal opacity |
OMIM:609140 |
| Corneal Dystrophy, Posterior Amorphous |
|
Corneal dystrophy, Ectopia pupillae, Iris coloboma |
OMIM:612868 |
| Sclerosteosis |
|
Optic atrophy, Diaphyseal undertubulation, Finger syndactyly, Facial palsy, Ptosis, 2-3 finger sy... |
ORPHA:3152 |
| Corneal Dystrophy-Perceptive Deafness Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:1490 |
| Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
| Terminal Osseous Dysplasia |
|
Mesomelic arm shortening, Telecanthus, Abnormal hand bone ossification, Camptodactyly of toe, Abn... |
OMIM:300244 |
| Corneal Dystrophy, Posterior Polymorphous, 1 |
|
Abnormal corneal endothelium morphology, Band keratopathy, Iris atrophy, Corneal opacity, Abnorma... |
OMIM:122000 |
| Ophthalmomandibulomelic Dysplasia |
|
Ulnar deviated club hands, Corneal opacity, Synostosis of carpal bones, Megalocornea, Micromelia,... |
ORPHA:2741 |
| Neutropenia, Severe Congenital, 2, Autosomal Dominant |
|
B lymphocytopenia, Monocytosis, Neutropenia |
OMIM:613107 |
| Gómez-López-Hernández Syndrome |
|
Alopecia of scalp, Corneal opacity, Toenail dysplasia, Telecanthus |
ORPHA:1532 |
| Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
|
Abnormal cranial nerve morphology, Ptosis |
OMIM:258470 |
| Dysautonomia-Like Disorder |
|
Abnormal autonomic nervous system physiology |
OMIM:224000 |
| Ophthalmoplegia, External, And Myopia |
|
Ptosis, Spina bifida, Chorioretinal degeneration |
OMIM:311000 |
| Neutropenia, Nonimmune Chronic Idiopathic, Of Adults |
|
Acute myeloid leukemia, Neutropenia |
OMIM:607847 |
| Neutropenia, Severe Congenital, 1, Autosomal Dominant |
|
Anemia, Thrombocytosis, Congenital agranulocytosis, Acute monocytic leukemia, Eosinophilia, Monoc... |
OMIM:202700 |
| Cataract-Microcornea Syndrome |
|
Microcornea, Corneal dystrophy, Corneal opacity, Cataract, Iris coloboma |
ORPHA:1377 |
| Multiple System Atrophy |
|
Axial dystonia, Resting tremor, Abnormal autonomic nervous system physiology, Autonomic erectile ... |
ORPHA:102 |
| Spinocerebellar Degeneration-Corneal Dystrophy Syndrome |
|
Corneal dystrophy, Corneal opacity |
ORPHA:3177 |
| Short Syndrome |
|
Abnormal anterior chamber morphology, Excessive wrinkled skin, Telecanthus, Corneal opacity, Mega... |
ORPHA:3163 |
| Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
|
2-3 toe syndactyly, Horizontal eyebrow, Ptosis, Epicanthus, Clinodactyly |
OMIM:619311 |
| Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Ptosis, Interphalangeal joint contracture of finger, Thick eyebrow, Sparse hair, Preaxial hand po... |
OMIM:606242 |
| Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased distal sensory nerve action potential, Distal upper limb muscle weakness, Hammertoe, Fa... |
OMIM:607684 |
| Adult-onset autosomal dominant leukodystrophy (ADLD) |
|
Abnormal autonomic nervous system physiology |
DECIPHER:59 |
| Mucolipidosis Iv |
|
Optic atrophy, Opacification of the corneal stroma, Dystonia, Corneal opacity |
OMIM:252650 |
| Unilateral Ocular Duplication |
|
Encephalocele, Blepharophimosis, Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphol... |
ORPHA:3374 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Vii |
|
Abnormal autonomic nervous system physiology |
OMIM:615548 |
| Atypical Rett Syndrome |
|
Pill-rolling tremor, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Short foot, ... |
ORPHA:3095 |
| Harel-Yoon Syndrome |
|
Optic atrophy, Corneal opacity, Dystonia, Developmental cataract, Hip dysplasia, Upslanted palpeb... |
OMIM:617183 |
| Multiple System Atrophy, Parkinsonian Type |
|
Axial dystonia, Resting tremor, Abnormal autonomic nervous system physiology, Autonomic erectile ... |
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 |
|
Sparse or absent eyelashes, Abnormal eyelid morphology, Abnormal eyelash morphology, Corneal opac... |
ORPHA:1794 |
| Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Cataract, Ptosis, Epicanthus |
ORPHA:1373 |
| Arthrogryposis, Distal, Type 7 |
|
Hammertoe, Metatarsus adductus, Ptosis, Cutaneous syndactyly of toes, Talipes equinovarus, Hip di... |
OMIM:158300 |
| Progressive Hemifacial Atrophy |
|
Ptosis, Heterochromia iridis |
ORPHA:1214 |
| Macrosomia-Microphthalmia-Cleft Palate Syndrome |
|
Microcornea, Corneal opacity |
ORPHA:2432 |
| Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction |
|
Aganglionic megacolon, Tapered finger, Abnormal autonomic nervous system physiology, Hyperconvex ... |
OMIM:613870 |
| Epilepsy, Familial Focal, With Variable Foci 4 |
|
Abnormal autonomic nervous system physiology |
OMIM:617935 |
| Stuve-Wiedemann Syndrome 1 |
|
Flexion contracture of toe, Femoral bowing, Clubbing, Abnormal autonomic nervous system physiolog... |
OMIM:601559 |
| Microphthalmia, Syndromic 13 |
|
Ptosis, Microcornea, Chorioretinal coloboma, Iris coloboma |
OMIM:300915 |
| Intellectual Developmental Disorder, X-Linked 101 |
|
Optic atrophy, Unilateral ptosis, Clinodactyly |
OMIM:300928 |
| Aplasia Cutis Congenita |
|
Skin ulcer, Finger syndactyly, Facial palsy, Toe syndactyly, Erythema |
ORPHA:1114 |
| Corneal Dystrophy, Posterior Polymorphous, 3 |
|
Keratoconus, Corneal dystrophy, Ectopia pupillae, Corneal guttata |
OMIM:609141 |
| Dermoids Of Cornea |
|
Corneal opacity |
OMIM:304730 |
| Galactosialidosis |
|
Corneal opacity |
ORPHA:351 |
| Autosomal Dominant Epilepsy With Auditory Features |
|
Abnormal autonomic nervous system physiology |
ORPHA:101046 |
| Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Ptosis, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:243180 |
| Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development |
|
Optic atrophy, Astigmatism, Myopic astigmatism, Microcornea, Corneal opacity, Downslanted palpebr... |
OMIM:152950 |
| Bartsocas-Papas Syndrome |
|
Popliteal pterygium, Hypoplastic toenails, Sparse or absent eyelashes, Finger syndactyly, Corneal... |
ORPHA:1234 |
| Hirschsprung Disease-Ganglioneuroblastoma Syndrome |
|
Aganglionic megacolon, Abnormal pupil morphology |
ORPHA:2151 |
| Multiple System Atrophy, Cerebellar Type |
|
Axial dystonia, Resting tremor, Abnormal autonomic nervous system physiology, Autonomic erectile ... |
ORPHA:227510 |
| Arthrogryposis, Distal, Type 2B3 |
|
Camptodactyly, Ptosis, Downslanted palpebral fissures, Ulnar deviation of the hand, Adducted thum... |
OMIM:618436 |
| Obesity Due To Sim1 Deficiency |
|
Abnormal autonomic nervous system physiology, Postural hypotension with compensatory tachycardia |
ORPHA:369873 |
| Brachyolmia Type 1, Hobaek Type |
|
Short iliac bones, Flattened proximal radial epiphyses, Short long bone, Corneal opacity, Flat ac... |
OMIM:271530 |
| Weiss-Kruszka Syndrome |
|
Clinodactyly of the 5th finger, Proximal placement of thumb, Highly arched eyebrow, Single transv... |
ORPHA:502430 |
| Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies |
|
Optic atrophy, Astigmatism, Sandal gap, Scarring alopecia of scalp, 3-4 toe syndactyly, Broad hal... |
OMIM:618727 |
| Glaucoma 3, Primary Congenital, D |
|
Primary congenital glaucoma, Ectopia lentis, Corneal opacity |
OMIM:613086 |
| Mucous Membrane Pemphigoid |
|
Corneal opacity |
ORPHA:46486 |
| Immunodeficiency 60 And Autoimmunity |
|
Decreased proportion of memory B cells, Decreased basophil count, Splenomegaly, Pancytopenia |
OMIM:618394 |
| Hidrotic Ectodermal Dysplasia |
|
Nail dystrophy, Small nail, Generalized hypotrichosis, Sparse axillary hair, Sparse hair, Fine ha... |
ORPHA:189 |
| Posterior Polymorphous Corneal Dystrophy |
|
Astigmatism, Chorioretinal degeneration, Corneal stromal edema, Corneal opacity, Abnormal Desceme... |
ORPHA:98973 |
| Multicentric Carpotarsal Osteolysis Syndrome |
|
Wrist swelling, Metacarpal osteolysis, Carpal osteolysis, Ulnar deviation of the hand or of finge... |
OMIM:166300 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Ptosis, Facial palsy |
OMIM:609283 |
| Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis, Ectopia lentis |
OMIM:110150 |
| Microcoria, Congenital |
|
Hypoplasia of the iris dilator muscle, Microcoria |
OMIM:156600 |
| Mietens Syndrome |
|
Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Clinodactyly of the... |
ORPHA:2557 |
| Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
| Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis, Dystonia |
OMIM:108600 |
| Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Highly arched eyebrow, Abnormal cranial nerve morphology, Synophrys, Ptosis, Thick eyebrow, Bleph... |
ORPHA:2057 |
| Microcephaly 16, Primary, Autosomal Recessive |
|
Ptosis, Simplified gyral pattern, Telecanthus |
OMIM:616681 |
| Neurodevelopmental Disorder With Poor Language And Loss Of Hand Skills |
|
Small hand, Dystonia, Abnormal autonomic nervous system physiology, Short foot |
OMIM:617903 |
| Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Clinodactyly of the 5th finger, Heterochromia iridis, Synophrys, Ptosis, Downslanted palpebral fi... |
ORPHA:1390 |
| Cornelia De Lange Syndrome 2 |
|
Limited elbow movement, Proximal placement of thumb, Highly arched eyebrow, Hirsutism, Short foot... |
OMIM:300590 |
| Posttransplant Acute Limbic Encephalitis |
|
Dystonia, Abnormal autonomic nervous system physiology |
ORPHA:163921 |
| Hereditary Bullous Dystrophy, Macular Type |
|
Short finger, Nail dystrophy, Hyperpigmentation of the skin, Alopecia, Corneal opacity, Atrichia,... |
ORPHA:1867 |
| Bilateral Striopallidodentate Calcinosis |
|
Corneal opacity |
ORPHA:1980 |
| Oculodentodigital Dysplasia, Autosomal Recessive |
|
Short palpebral fissure, 2-4 toe cutaneous syndactyly, Fifth finger distal phalanx clinodactyly, ... |
OMIM:257850 |
| Char Syndrome |
|
Highly arched eyebrow, Ptosis, Thick eyebrow, Patent ductus arteriosus |
OMIM:169100 |
| Duane Retraction Syndrome |
|
Irregular hyperpigmentation, Aniridia, Low posterior hairline, Hypoplastic iris stroma, Absent ra... |
ORPHA:233 |
| Dermatoosteolysis, Kirghizian Type |
|
Abnormal metaphysis morphology, Abnormality of the hand, Dystrophic fingernails, Skin ulcer, Tars... |
ORPHA:1657 |
| Ichthyosis, Congenital, Autosomal Recessive 11 |
|
Curly eyelashes, Brittle hair, Abnormality of the nail, Corneal opacity, Curly hair, Sparse eyela... |
OMIM:602400 |
| Hypertrichosis Cubiti |
|
Rhizomelia, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2220 |
| Leprosy |
|
Abnormal seventh cranial physiology, Iritis, Loss of eyelashes, Acral ulceration, Corneal ulcerat... |
ORPHA:548 |
| Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Broad finger, Astigmatism, Abnormal auditory evoked potentials, Low posterior hairline, Long eyel... |
OMIM:617523 |
| Warburg Micro Syndrome 1 |
|
Optic atrophy, Microcornea, Ptosis, Developmental cataract, Overlapping toe, Facial hypertrichosi... |
OMIM:600118 |
| Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Ptosis, Palpebral edema, Ectopia lentis, Iris coloboma |
ORPHA:1259 |
| Multiple Sulfatase Deficiency |
|
Optic atrophy, Corneal opacity, Broad thumb, Abnormality of retinal pigmentation, Thick eyebrow, ... |
ORPHA:585 |
| Bartsocas-Papas Syndrome 2 |
|
Popliteal pterygium, Axillary pterygium, Absent distal phalanges, Corneal opacity, 2-5 finger cut... |
OMIM:619339 |
| Trisomy 20P |
|
Abnormal hip bone morphology, Thick hair, Highly arched eyebrow, Finger syndactyly, Abnormal auto... |
ORPHA:261318 |
| Mucolipidosis Type Iii |
|
Large iliac wing, Corneal opacity, Abnormal hip bone morphology, Hypoplastic inferior ilia |
ORPHA:577 |
| Ramos-Arroyo Syndrome |
|
High anterior hairline, Aganglionic megacolon, Corneal ulceration, Chorioretinal atrophy, Abnorma... |
ORPHA:1051 |
| Waardenburg Syndrome Type 1 |
|
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Telecanthus, Abnorm... |
ORPHA:894 |
| Chilblain Lupus 1 |
|
Abnormality of the nail, Skin ulcer, Autoamputation of digits |
OMIM:610448 |
| Lattice Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Astigmatism, Central posterior corneal opacity, Central opacification... |
ORPHA:98964 |
| Alexander Disease |
|
Hydrocephalus, Microcoria |
OMIM:203450 |
| Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Ptosis, Claw hand deformity, Distal upper limb muscle ... |
OMIM:605285 |
| Corneal Dystrophy, Posterior Polymorphous, 4 |
|
Ectopia pupillae |
OMIM:618031 |
| Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Ptosis, Short-segment aganglionic megacolon |
OMIM:619465 |
| Systemic Mastocytosis With Associated Hematologic Neoplasm |
|
Normocytic anemia, Acute myeloid leukemia, Normochromic anemia, Chronic lymphatic leukemia, Chron... |
ORPHA:98849 |
| Multiple System Atrophy 1, Susceptibility To |
|
Orthostatic hypotension, Tremor, Iris atrophy, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:146500 |
| Moebius Syndrome |
|
Aplasia of the pectoralis major muscle, Clinodactyly of the 5th finger, Breast aplasia, Aplasia/H... |
ORPHA:570 |
| Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Clinodactyly of the 5th finger, 2-3 toe syndactyly, Almond-shaped palpebral fissure, Synophrys, P... |
ORPHA:589905 |
| Achalasia-Addisonianism-Alacrima Syndrome |
|
Optic atrophy, Orthostatic hypotension, Hyperpigmentation of the skin, Abnormal autonomic nervous... |
OMIM:231550 |
| Myopathy, Tubular Aggregate, 1 |
|
Abnormal pupil morphology |
OMIM:160565 |
| Classic Mycosis Fungoides |
|
Irregular hyperpigmentation, Hypopigmented skin patches, Skin ulcer, Abnormality of the nail, Abn... |
ORPHA:2584 |
| Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked |
|
Rocker bottom foot, Redundant neck skin, Astigmatism, Deep palmar crease, Telecanthus, Small nail... |
OMIM:301056 |
| Ectopia Pupillae |
|
Ectopia pupillae |
OMIM:129750 |
| Cataract 21, Multiple Types |
|
Microcornea, Corneal opacity, Cortical pulverulent cataract, Peters anomaly, Cerulean cataract, I... |
OMIM:610202 |
| Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
|
Optic atrophy, Bilateral ptosis, Oculogyric crisis, Tremor, Dystonia |
ORPHA:330050 |
| Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Telecanthus, Cone-shaped epiphyses of the 3rd toe, Ptosis, Cone-shaped epiphyses of the toes, Hyp... |
ORPHA:397973 |
| Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation |
|
Bilateral ptosis, Genu valgum, Cubitus valgus, Torticollis, Optic nerve hypoplasia, Abnormal auto... |
ORPHA:300570 |
| Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Congenital finger flexion contractures, Bilateral talipes equinovarus, Deviation o... |
ORPHA:1154 |
| X-Linked Recessive Ocular Albinism |
|
Iris hypopigmentation, Astigmatism, Abnormal pupil morphology, Ocular albinism |
ORPHA:54 |
| Frontofacionasal Dysplasia |
|
Upper eyelid coloboma, Telecanthus, Encephalocele, Microcornea, Limbal dermoid, Ptosis, Brushfiel... |
ORPHA:1791 |
| Ring Chromosome 1 Syndrome |
|
Clinodactyly of the 5th finger, Telecanthus, Ptosis, Downslanted palpebral fissures, Abnormal hai... |
ORPHA:1437 |
| Attrv30M Amyloidosis |
|
Abnormal autonomic nervous system physiology |
ORPHA:85447 |
| Arthrogryposis, Distal, Type 5 |
|
Astigmatism, Keratoglobus, Keratoconus, Absent phalangeal crease, Congenital finger flexion contr... |
OMIM:108145 |
| Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome |
|
Narrow greater sciatic notch, Rhizomelia, Flared metaphysis, Metaphyseal spurs, Corneal opacity, ... |
ORPHA:85167 |
| 11Q22.2Q22.3 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Hyperpigmentation of ... |
ORPHA:444002 |
| Neurodegeneration With Brain Iron Accumulation 5 |
|
Tremor, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:300894 |
| Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy |
|
Narrow greater sciatic notch, Short finger, Rhizomelia, Flared metaphysis, Metaphyseal cupping, T... |
OMIM:608940 |
| Fuchs Heterochromic Iridocyclitis |
|
Anterior chamber inflammatory cells, Chorioretinal scar, Iris atrophy, Heterochromia iridis, Anis... |
ORPHA:263479 |
| Trismus-Pseudocamptodactyly Syndrome |
|
Ptosis |
ORPHA:3377 |
| Oculocerebrocutaneous Syndrome |
|
Hypopigmented skin patches, Iris coloboma, Finger syndactyly, Corneal opacity, Congenital hip dis... |
ORPHA:1647 |
| Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Highly arched eyebrow, Ptosis, Cataract |
OMIM:616154 |
| Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Cone-shaped epiphysis, Telecanthus, Ptosis, Hyperopic astigmatism, Hallux valgus, Blepharophimosis |
OMIM:606772 |
| Hec Syndrome |
|
Developmental cataract, Abnormal pupil morphology, Communicating hydrocephalus |
ORPHA:2119 |
| Trisomy 9P |
|
Bilateral single transverse palmar creases, Hypoplastic fingernail, Clinodactyly of the 5th finge... |
ORPHA:236 |
| Joubert Syndrome 36 |
|
Highly arched eyebrow, Ptosis |
OMIM:618763 |
| Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Hypopigmented skin patches, Abnormal thumb morphology, Abnormality of the wrist, Proximal placeme... |
ORPHA:1825 |
| Iatrogenic Botulism |
|
Ptosis, Mydriasis, Orthostatic hypotension |
ORPHA:254509 |
| Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis, Developmental cataract |
ORPHA:330054 |
| Proteus-Like Syndrome |
|
Hydrocephalus, Heterochromia iridis, Communicating hydrocephalus, Downslanted palpebral fissures,... |
ORPHA:2969 |
| Erythermalgia, Primary |
|
Abnormal autonomic nervous system physiology, Keratoconjunctivitis sicca |
OMIM:133020 |
| Whistling Face Syndrome, Recessive Form |
|
Short palpebral fissure, Telecanthus, Shoulder flexion contracture, Elbow flexion contracture, Ca... |
OMIM:277720 |
| Cerebellar Ataxia, Neuropathy, And Vestibular Areflexia Syndrome |
|
Decreased distal sensory nerve action potential, Abnormal autonomic nervous system physiology, Ve... |
OMIM:614575 |
| Hurler-Scheie Syndrome |
|
Corneal opacity, Generalized hirsutism, Abnormal nerve conduction velocity |
ORPHA:93476 |
| Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Ptosis |
OMIM:618197 |
| Neuropathy, Hereditary Sensory, Type Iic |
|
Intrinsic hand muscle atrophy, Autoamputation of digits, Acral ulceration |
OMIM:614213 |
| Autism, Susceptibility To, X-Linked 6 |
|
Ptosis |
OMIM:300872 |
| Thiel-Behnke Corneal Dystrophy |
|
Recurrent corneal erosions, Astigmatism, Subepithelial corneal opacities, Central corneal dystrop... |
ORPHA:98960 |
| Fazio-Londe Disease |
|
Ptosis, Facial diplegia |
OMIM:211500 |
| Wolfram Syndrome, Mitochondrial Form |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:598500 |
| Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Broad distal phalanx of finger, Astigmatism, Sandal gap, Synophrys, Postaxial polydactyly, Ptosis... |
OMIM:615761 |
| Tetanus |
|
Tremor, Opisthotonus, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:3299 |
| 2Q23.1 Microduplication Syndrome |
|
Bilateral ptosis, Abnormality of the hand, Astigmatism, Clinodactyly of the 5th finger, Sandal ga... |
ORPHA:313947 |
| Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Optic atrophy, Clinodactyly of the 5th finger, Tremor, Ptosis, Dystonia, Choreoathetosis |
OMIM:619422 |
| Goldberg-Shprintzen Megacolon Syndrome |
|
Aganglionic megacolon, Finger syndactyly, Sparse scalp hair, Ptosis, Sparse eyebrow, Iris coloboma |
ORPHA:66629 |
| Multiple Synostoses Syndrome 1 |
|
Radial deviation of finger, Proximal/middle symphalangism of 5th toe, Aplastic/hypoplastic toenai... |
OMIM:186500 |
| Fatty Acyl-Coa Reductase 1 Deficiency |
|
Highly arched eyebrow, Ptosis, Juvenile cataract |
ORPHA:438178 |
| Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome |
|
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Hip dysplasia, Cataract, Upslanted palpeb... |
ORPHA:496790 |
| Acrogeria |
|
Irregular hyperpigmentation, Skin ulcer, Excessive wrinkled skin, Fine hair, Short foot, Small hand |
ORPHA:2500 |
| Variant Abeta2M Amyloidosis |
|
Abnormal autonomic nervous system physiology, Arthralgia of the hip |
ORPHA:314652 |
| Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency |
|
Optic atrophy, Bilateral ptosis, Cataract |
ORPHA:329314 |
| Megalocornea |
|
Corneal arcus, Iris transillumination defect, Iridodonesis, Astigmatism, Mosaic corneal dystrophy... |
OMIM:309300 |
| Spondylometaphyseal Dysplasia With Corneal Dystrophy |
|
Short long bone, Corneal opacity, Metaphyseal widening, Limb undergrowth, Coarse metaphyseal trab... |
OMIM:618961 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Widely spaced toes, Shortening of all middle phalanges of the fingers, Tapered finger, Ptosis, Sh... |
OMIM:301900 |
| Free Sialic Acid Storage Disease |
|
Skin ulcer, Abnormality of the upper limb, Athetosis, Abnormality of skin pigmentation, Iris hypo... |
ORPHA:834 |
| Segawa Syndrome, Autosomal Recessive |
|
Ptosis, Tremor, Limb dystonia |
OMIM:605407 |
| Charcot-Marie-Tooth Disease Type 4B2 |
|
Optic atrophy, Decreased distal sensory nerve action potential, Proximal muscle weakness in upper... |
ORPHA:99956 |
| Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, 2-3 toe syndact... |
OMIM:218000 |
| Atopic Keratoconjunctivitis |
|
Corneal neovascularization, Loss of eyelashes, Abnormal eyelid morphology, Corneal opacity, Dry s... |
ORPHA:163934 |
| Morquio Syndrome C |
|
Corneal opacity |
OMIM:252300 |
| Neurotrophic Keratopathy |
|
Recurrent corneal erosions, Astigmatism, Corneal ulceration, Corneal stromal edema, Corneal scarr... |
ORPHA:137596 |
| Persistent Hyperplastic Primary Vitreous, Autosomal Recessive |
|
Iris coloboma, Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior cham... |
OMIM:221900 |
| Norrie Disease |
|
Optic atrophy, Buphthalmos, Corneal opacity, Hypoplasia of the iris, Shallow anterior chamber, Le... |
OMIM:310600 |
| 8Q21.11 Microdeletion Syndrome |
|
Abnormal metacarpal morphology, Finger syndactyly, Corneal opacity, Ptosis, Iris hypopigmentation... |
ORPHA:284160 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Camptodactyly, Absent toenail, Broad thumb, Unilateral ptosis, Br... |
OMIM:301026 |
| Corneal Dystrophy, Reis-Bucklers Type |
|
Palpebral edema, Corneal erosion, Corneal dystrophy, Corneal opacity, Opacification of the cornea... |
OMIM:608470 |
| Stickler Syndrome, Type Vi |
|
Ptosis, Downslanted palpebral fissures, Astigmatism |
OMIM:620022 |
| Mandibulofacial Dysostosis With Macroblepharon And Macrostomia |
|
Ectropion, Corneal opacity, Synophrys, Long palpebral fissure, Downslanted palpebral fissures, Th... |
OMIM:602562 |
| Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease |
|
Hypopigmented skin patches, Aganglionic megacolon, Decreased nerve conduction velocity, Torticoll... |
OMIM:609136 |
| Multicentric Osteolysis, Nodulosis, And Arthropathy |
|
Hypermelanotic macule, Thin metacarpal cortices, Corneal opacity, Wrist flexion contracture, Broa... |
OMIM:259600 |
| Amyloidosis, Hereditary, Transthyretin-Related |
|
Tremor, Abnormal autonomic nervous system physiology, Intention tremor, Ptosis, Orthostatic hypot... |
OMIM:105210 |
| Facial Spasm |
|
Anisocoria |
OMIM:134300 |
| Adult Syndrome |
|
Breast hypoplasia, Skin ulcer, Toenail dysplasia, Abnormality of the nail, Alopecia, Finger synda... |
ORPHA:978 |
| Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Congenital ptosis |
OMIM:254190 |
| Cardiofaciocutaneous Syndrome 4 |
|
Multiple lentigines, Alopecia of scalp, Telecanthus, Palmoplantar hyperkeratosis, Optic nerve hyp... |
OMIM:615280 |
| Ectodermal Dysplasia-Blindness Syndrome |
|
Skin ulcer, Corneal dystrophy, Microcornea, Abnormality of skin pigmentation, Abnormal fingernail... |
ORPHA:1806 |
| Microphthalmia, Isolated, With Corectopia |
|
Ectopia pupillae |
OMIM:156900 |
| Ophthalmomandibulomelic Dysplasia |
|
Fibular hypoplasia, Ulnar deviated club hands, Decreased mobility 3rd-5th fingers, Megalocornea, ... |
OMIM:164900 |
| Machado-Joseph Disease |
|
Ptosis, Dystonia, Abnormal autonomic nervous system physiology |
OMIM:109150 |
| Distal Deletion 6P |
|
Abnormal anterior chamber morphology, Clinodactyly of the 5th finger, Corneal opacity, Hypoplasia... |
ORPHA:96125 |
| Congenital Fibrosis Of Extraocular Muscles |
|
Congenital fibrosis of extraocular muscles, Optic nerve hypoplasia, Polymicrogyria, Levator palpe... |
ORPHA:45358 |
| Prieto Syndrome |
|
Radial deviation of finger, Talipes equinovarus, Ptosis, Epicanthus, Clinodactyly, Coxa valga |
OMIM:309610 |
| Phacoanaphylactic Uveitis |
|
Abnormal corneal endothelium morphology, Hypopyon, Corneal stromal edema, Posterior uveitis, Ante... |
ORPHA:209959 |
| Nasopalpebral Lipoma-Coloboma Syndrome |
|
Clinodactyly of the 5th finger, Telecanthus, Abnormal eyelash morphology, Corneal opacity, Conjun... |
ORPHA:2399 |
| Sporadic Adult-Onset Ataxia Of Unknown Etiology |
|
Abnormal vestibulo-ocular reflex, Abnormal cranial nerve morphology, Resting tremor, Abnormal aut... |
ORPHA:247234 |
| Mesomelia-Synostoses Syndrome |
|
Abnormality of the hand, Abnormal femur morphology, Abnormal tibia morphology, Abnormal metacarpa... |
ORPHA:2496 |
| Inherited Creutzfeldt-Jakob Disease |
|
Vestibular nystagmus, Tremor, Abnormal autonomic nervous system physiology |
ORPHA:282166 |
| Muenke Syndrome |
|
Capitate-hamate fusion, Radial deviation of finger, Cone-shaped epiphyses of the phalanges of the... |
OMIM:602849 |
| Axenfeld-Rieger Syndrome, Type 3 |
|
Hypoplasia of the iris, Posterior embryotoxon, Ectopia pupillae, Patent ductus arteriosus, Poster... |
OMIM:602482 |
| Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Postural tremor, Ptosis, Abnormal nerve conduction velocity, Torticollis |
OMIM:619862 |
| Tremor-Ataxia-Central Hypomyelination Syndrome |
|
Optic atrophy, Intention tremor, Dystonia, Postural tremor, Autonomic bladder dysfunction |
ORPHA:447896 |
| Familial Multiple Nevi Flammei |
|
Irregular hyperpigmentation, Hypermelanotic macule, Skin ulcer, Abnormal cranial nerve morphology... |
ORPHA:624 |
| Acro-Renal-Ocular Syndrome |
|
Sandal gap, Short humerus, Hypoplasia of the ulna, Aganglionic megacolon, Cataract, Preaxial hand... |
ORPHA:959 |
| Hoxha-Aliu Syndrome |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Highly arched eyebrow, Absen... |
OMIM:620662 |
| Frontonasal Dysplasia 1 |
|
Joint contracture of the hand, Radial deviation of finger, Pectoral muscle hypoplasia/aplasia, Po... |
OMIM:136760 |
| Arthrogryposis, Distal, Type 1A |
|
Rocker bottom foot, Single transverse palmar crease, Elbow flexion contracture, Ulnar deviation o... |
OMIM:108120 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ia |
|
Decreased sensory nerve conduction velocity, Acral ulceration, Cataract, Decreased motor nerve co... |
OMIM:162400 |
| Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Levator palpebrae superioris atrophy, Congenital fibrosis of extraocular muscle... |
OMIM:135700 |
| Juvenile Hyaline Fibromatosis |
|
Skin ulcer, Abnormal diaphysis morphology, Abnormal hair morphology |
ORPHA:2028 |
| Noonan Syndrome 13 |
|
Limited elbow extension, Multiple lentigines, Cubitus valgus, Broad eyebrow, Highly arched eyebro... |
OMIM:619087 |
| Dermoodontodysplasia |
|
Toenail dysplasia, Trichodysplasia, Abnormal eyelid morphology, Sparse scalp hair, Dry skin, Ptos... |
ORPHA:1660 |
| Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
| Brooke-Spiegler Syndrome |
|
Nodular changes affecting the eyelids, Skin ulcer, Trichoepithelioma, Skin appendage neoplasm, Fa... |
ORPHA:79493 |
| Rigidity And Multifocal Seizure Syndrome, Lethal Neonatal |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:614498 |
| Diffuse Palmoplantar Keratoderma, Bothnian Type |
|
Skin ulcer, Erythema, Diffuse palmoplantar hyperkeratosis |
ORPHA:2337 |
| Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Optic atrophy, Ptosis, Dystonia, Choreoathetosis |
OMIM:618238 |
| Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome |
|
Rhizomelia, 2-3 toe syndactyly, Microcornea, Long eyelashes, Cryptophthalmos, Sclerocornea, Ectop... |
OMIM:615877 |
| Incontinentia Pigmenti |
|
Irregular hyperpigmentation, Corneal opacity, Broad nail, Abnormal chorioretinal morphology, Abno... |
ORPHA:464 |
| Olmsted Syndrome 1 |
|
Nail dysplasia, Nail dystrophy, Corneal opacity, Autoamputation of digits, Sparse hair, Subungual... |
OMIM:614594 |
| Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Narrow greater sciatic notch, Abnormal metacarpal morphology, Acromesomelia, Abnor... |
ORPHA:168549 |
| Amyotrophy, Hereditary Neuralgic |
|
Ptosis, Brachial plexus neuropathy, Epicanthus, Upslanted palpebral fissure, Blepharophimosis |
OMIM:162100 |
| Carpenter Syndrome 1 |
|
Flared iliac wing, Duplication of the proximal phalanx of the hallux, Genu varum, Coxa valga, Opt... |
OMIM:201000 |
| X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Bilateral talipes equinovarus, Ptosis, Epicanthus, Finger clinodactyly, Coxa valga |
ORPHA:2958 |
| 2Q31.1 Microdeletion Syndrome |
|
Sandal gap, Abnormal fibula morphology, Abnormal tibia morphology, Abnormal metacarpal morphology... |
ORPHA:251014 |
| Limbal Stem Cell Deficiency |
|
Opacification of the corneal epithelium, Corneal neovascularization, Cornea verticillata, Blephar... |
ORPHA:171673 |
| Scalp-Ear-Nipple Syndrome |
|
Nail dysplasia, Palpebral edema, Broad thumb, Sparse axillary hair, Sparse hair, Fine hair, Devel... |
OMIM:181270 |
| Isolated Ectopia Lentis |
|
Cataract, Ectopia lentis, Ectopia pupillae |
ORPHA:1885 |
| Schwartz-Jampel Syndrome, Type 1 |
|
Flexion contracture of toe, Wrist flexion contracture, Anterior bowing of long bones, Coxa valga,... |
OMIM:255800 |
| Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
| Craniosynostosis 3 |
|
Single transverse palmar crease, Ptosis, Low anterior hairline, Brachydactyly, Hallux valgus |
OMIM:615314 |
| Coffin-Siris Syndrome 5 |
|
Sandal gap, Dystrophic toenail, Sparse scalp hair, Long eyelashes, Ptosis, Arachnodactyly, Thick ... |
OMIM:616938 |
| Acrofrontofacionasal Dysostosis |
|
Hypopigmented skin patches, Aplasia/Hypoplasia of the eyebrow, Abnormal epiphysis morphology, Mic... |
ORPHA:1784 |
| Porphyria Variegata |
|
Proximal muscle weakness in upper limbs, Hyperpigmentation of the skin, Hypopigmentation of the s... |
ORPHA:79473 |
| Infantile Neuroaxonal Dystrophy |
|
Optic atrophy, Dystonia, Abnormality of peripheral nerve conduction, Abnormal autonomic nervous s... |
ORPHA:35069 |
| Myasthenic Syndrome, Congenital, 16 |
|
Bilateral ptosis, Ptosis |
OMIM:614198 |
| Chromosome Xq13 Duplication Syndrome |
|
Limited elbow extension, Short palpebral fissure, Medial flaring of the eyebrow, Clinodactyly of ... |
OMIM:301069 |
| Cornelia De Lange Syndrome 5 |
|
Limited elbow extension, Clinodactyly of the 5th finger, Proximal placement of thumb, Telecanthus... |
OMIM:300882 |
| Spinal Cord Injury |
|
Allodynia, Abnormal autonomic nervous system physiology |
ORPHA:90058 |
| Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Ectropion, Abnormal thumb morphology, Hypopigmentation of hair, Athetosis, Corneal opacity, Choro... |
ORPHA:2719 |
| Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
|
Ptosis, Frontalis muscle weakness, Facial palsy |
OMIM:300580 |
| Spinocerebellar Ataxia 50 |
|
Head tremor, Action tremor, Ptosis, Postural tremor, Froment sign |
OMIM:620158 |
| Myasthenic Syndrome, Congenital, 12 |
|
Ptosis, Facial palsy |
OMIM:610542 |
| Spondylodysplastic Ehlers-Danlos Syndrome |
|
Subluxation of the small joints of the hand, Optic nerve hypoplasia, Abnormal femoral head morpho... |
ORPHA:536471 |
| Charcot-Marie-Tooth Disease Type 1E |
|
Decreased nerve conduction velocity, Hammertoe, Split hand, Hand muscle weakness, Anisocoria, Han... |
ORPHA:90658 |
| Proliferating Trichilemmal Cyst |
|
Skin ulcer, Sparse scalp hair |
ORPHA:492 |
| Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Ptosis |
ORPHA:171706 |
| Goldberg-Shprintzen Syndrome |
|
Aganglionic megacolon, Clinodactyly of the 5th finger, Corneal erosion, Telecanthus, Corneal ulce... |
OMIM:609460 |
| Keipert Syndrome |
|
Broad distal phalanx of finger, Clinodactyly of the 5th finger, Aplastic/hypoplastic toenail, Sho... |
ORPHA:2662 |
| Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Short palpebral fissure, Clinodactyly of the 5th finger, Highly arched eyebrow, Decreased palmar ... |
OMIM:615834 |
| Parkinsonian-Pyramidal Syndrome |
|
Dystonia, Abnormal autonomic nervous system physiology, Talipes equinovarus, Intention tremor |
ORPHA:171695 |
| Coffin-Siris Syndrome 8 |
|
Sparse scalp hair, Long eyelashes, Ptosis, Thick eyebrow, Hypertrichosis |
OMIM:618362 |
| Neuropathy, Congenital Hypomyelinating, 3 |
|
2-3 toe syndactyly, Facial diplegia, Bilateral talipes equinovarus, Ptosis, Hand clenching, Neona... |
OMIM:618186 |
| Spinocerebellar Ataxia Type 28 |
|
Limb dystonia, Head tremor, Ptosis, Dystonia, Kinetic tremor |
ORPHA:101109 |
| Hereditary Sensory And Autonomic Neuropathy Type 1 |
|
Decreased amplitude of sensory action potentials, Skin ulcer, Penetrating foot ulcers, Abnormalit... |
ORPHA:36386 |
| Cluster Headache, Familial |
|
Ptosis |
OMIM:119915 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Ic |
|
Decreased motor nerve conduction velocity, Skin ulcer, Distal upper limb muscle weakness, Autoamp... |
OMIM:613640 |
| Congenital Sialidosis Type 2 |
|
Optic atrophy, Polydactyly, Petechiae, Generalized hypertrichosis, Corneal opacity, Developmental... |
ORPHA:93400 |
| Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Short finger, Cone-shaped epiphysis, Astigmatism, 2-3 toe syndactyly, Ptosis, Downslanted palpebr... |
OMIM:618659 |
| Pelvis-Shoulder Dysplasia |
|
Clinodactyly of the 5th finger, Short clavicles, Hypoplastic acetabulae, Hypoplastic ilia, Congen... |
OMIM:169550 |
| Sudden Infant Death-Dysgenesis Of The Testes Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:168593 |
| Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Elbow flexion contracture, Exaggerated startle response, Long eyelashes, Ptosis, H... |
OMIM:617301 |
| Parkinson Disease, Late-Onset |
|
Resting tremor, Tremor, Abnormal autonomic nervous system physiology, Dystonia |
OMIM:168600 |
| Congenital Rubella Syndrome |
|
Abnormal metaphysis morphology, Corneal opacity, Abnormality of retinal pigmentation, Cataract, A... |
ORPHA:290 |
| Sialidosis Type 1 |
|
Cataract, Decreased nerve conduction velocity, Corneal opacity, Tremor |
ORPHA:812 |
| Knobloch Syndrome 1 |
|
Iris transillumination defect, Occipital encephalocele, Telecanthus, Spina bifida occulta, Band k... |
OMIM:267750 |
| Sialidosis Type 2 |
|
Tremor, Corneal opacity |
ORPHA:87876 |
| Intestinal Botulism |
|
Ptosis, Mydriasis |
ORPHA:178481 |
| Parkinson Disease 23, Autosomal Recessive Early-Onset |
|
Resting tremor, Abnormal autonomic nervous system physiology, Limb dystonia |
OMIM:616840 |
| Zellweger Syndrome |
|
Optic atrophy, Abnormal chorioretinal morphology, Epiphyseal stippling, Corneal opacity, Posterio... |
ORPHA:912 |
| Peroxisome Biogenesis Disorder 2A (Zellweger) |
|
Optic nerve dysplasia, Palpebral edema, Cubitus valgus, Talipes equinovarus, Single transverse pa... |
OMIM:214110 |
| Osteoporosis-Pseudoglioma Syndrome |
|
Abnormal femoral neck/head morphology, Crumpled long bones, Abnormal lower limb bone morphology, ... |
ORPHA:2788 |
| Toxin-Mediated Infectious Botulism |
|
Ptosis, Mydriasis |
ORPHA:230800 |
| Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Superior rectus atrophy, Facial palsy, Wrist flexion contracture, Levator palpebrae superioris at... |
OMIM:600638 |
| Anterior Segment Dysgenesis 7 |
|
Ocular anterior segment dysgenesis, Microcornea, Corneal opacity, Sclerocornea, Cataract, Buphtha... |
OMIM:269400 |
| Li-Campeau Syndrome |
|
Telecanthus, Ptosis, Downslanted palpebral fissures, Thick eyebrow, Patent ductus arteriosus |
OMIM:619189 |
| Alternating Hemiplegia Of Childhood |
|
Mydriasis, Tremor, Abnormal autonomic nervous system physiology, Dystonia, Thin eyebrow, Pallor, ... |
ORPHA:2131 |
| Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Long palpebral fissure, Ptosis, Pachygyria, Lissencephaly |
OMIM:614583 |
| Cutis Laxa, Autosomal Dominant 3 |
|
Premature skin wrinkling, Corneal opacity, Cutis laxa, Developmental cataract, Adducted thumb, De... |
OMIM:616603 |
| Aarskog-Scott Syndrome |
|
High anterior hairline, Clinodactyly of the 5th finger, Finger syndactyly, Single transverse palm... |
ORPHA:915 |
| Acrodermatitis Enteropathica |
|
Skin ulcer, Corneal erosion, Ridged nail, Abnormality of the nail, Abnormal eyelid morphology, Dr... |
ORPHA:37 |
| Stickler Syndrome Type 2 |
|
Cataract, Corneal opacity |
ORPHA:90654 |
| Miller Fisher Syndrome |
|
Facial palsy, Ptosis, Mydriasis, Anisocoria |
ORPHA:98919 |
| Aniridia-Absent Patella Syndrome |
|
Cataract, Ptosis, Aniridia |
ORPHA:1069 |
| Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Highly arched eyebrow, Tremor, Ptosis, Downslanted palpebral fissures, Overlapping toe |
ORPHA:457365 |
| Autosomal Dominant Spastic Ataxia Type 1 |
|
Ptosis, Abnormal eyelid morphology, Tremor, Dystonia |
ORPHA:251282 |
| Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis, Facial palsy |
OMIM:616325 |
| Familial Dysautonomia |
|
Optic atrophy, Orthostatic hypotension, Corneal erosion, Corneal opacity, Heterochromia iridis, A... |
ORPHA:1764 |
| Gm1 Gangliosidosis |
|
Optic atrophy, Abnormal metaphysis morphology, Abnormal diaphysis morphology, Hirsutism, Tremor, ... |
ORPHA:354 |
| Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Ptosis, Facial palsy |
OMIM:616322 |
| Tangier Disease |
|
Nail dysplasia, Ectropion, Nail dystrophy, Facial diplegia, Dry skin, Cicatricial ectropion, Opac... |
OMIM:205400 |
| Juberg-Hayward Syndrome |
|
Limited elbow extension, Abnormal carpal morphology, Aplasia/Hypoplasia of the thumb, Highly arch... |
OMIM:216100 |
| Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Ptosis, Facial palsy |
ORPHA:2743 |
| Jackson-Weiss Syndrome |
|
Abnormal fibula morphology, Short metatarsal, 2-3 toe syndactyly, Broad metatarsal, Split foot, P... |
ORPHA:1540 |
| Microphthalmia With Brain And Digit Anomalies |
|
Nail dysplasia, Proximal placement of thumb, Finger syndactyly, Microcornea, Sclerocornea, Chorio... |
ORPHA:139471 |
| Hartsfield Syndrome |
|
Encephalocele, Telecanthus, Lobar holoprosencephaly, Ptosis, Downslanted palpebral fissures |
ORPHA:2117 |
| 4Q21 Microdeletion Syndrome |
|
Tremor, Micromelia, Synophrys, Ptosis, Long eyelashes, Short palm, Generalized hirsutism, Toe syn... |
ORPHA:238750 |
| Kury-Isidor Syndrome |
|
Rocker bottom foot, Astigmatism, Proximal placement of thumb, Talipes equinovarus, Finger syndact... |
OMIM:619762 |
| Oculofaciocardiodental Syndrome |
|
Genu valgum, Cubitus valgus, Hammertoe, Clinodactyly of the 5th finger, Highly arched eyebrow, 2-... |
ORPHA:2712 |
| Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Astigmatism, Sparse scalp hair, Ptosis, Abnormal fingernail morphology, Arachnodactyly, Brachydac... |
ORPHA:2824 |
| Parkinson Disease 4, Autosomal Dominant |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
OMIM:605543 |
| Fabry Disease |
|
Abnormality of the hand, Corneal dystrophy, Abnormal autonomic nervous system physiology |
OMIM:301500 |
| Waardenburg Syndrome |
|
Premature graying of hair, Hypopigmented skin patches, Aganglionic megacolon, Telecanthus, Hypopi... |
ORPHA:3440 |
| Cenani-Lenz Syndrome |
|
Hypoplasia of the ulna, Ectropion, Hypoplasia of the radius, Abnormal metacarpal morphology, Fing... |
ORPHA:3258 |
| Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Frontalis muscle weakness, Synophrys, Ptosis, Cutaneous finger syndactyly, Thick eyebrow, Blephar... |
OMIM:210745 |
| Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Bilateral single transverse palmar creases, Abnormal thumb morphology, Abnormality of the wrist, ... |
ORPHA:2511 |
| Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Optic atrophy, Hypoplastic fingernail, Clinodactyly of the 5th finger, Triphalangeal thumb, Catar... |
OMIM:220500 |
| Chromosome 16Q12 Duplication Syndrome |
|
Cataract, Temporal optic disc pallor, Anisocoria |
OMIM:619649 |
| Uveal Melanoma |
|
Mydriasis, Inferior lens subluxation, Zonular cataract, Ciliary body melanoma, Iris melanoma |
ORPHA:39044 |
| Prolidase Deficiency |
|
Bilateral single transverse palmar creases, Skin ulcer, Genu valgum, Abnormal hip bone morphology... |
ORPHA:742 |
| Neonatal Adrenoleukodystrophy |
|
Optic atrophy, Bilateral single transverse palmar creases, Ptosis, Abnormality of retinal pigment... |
ORPHA:44 |
| Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Facial palsy, Scapular winging, Hand muscle weakness, Action tremor, Ptosis |
ORPHA:254886 |
| Alpha-Mannosidosis |
|
Corneal opacity, Bowing of the long bones, Hypoplastic inferior ilia, Hip dysplasia, Cataract |
ORPHA:61 |
| Juberg-Hayward Syndrome |
|
Hypoplasia of the radius, Abnormality of the wrist, Abnormal metacarpal morphology, Hammertoe, Hi... |
ORPHA:2319 |
| Isolated Congenital Alacrima |
|
Corneal erosion, Lacrimal gland hypoplasia, Distichiasis, Ptosis, Keratitis, Conjunctivitis, Lacr... |
ORPHA:91416 |
| Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Telecanthus, Ptosis, Sparse eyebrow, Dystonia, Thick eyebrow, Epicanthus |
OMIM:617268 |
| Spinal Muscular Atrophy, X-Linked 2 |
|
Degeneration of anterior horn cells, Ptosis, Facial palsy, Decreased compound muscle action poten... |
OMIM:301830 |
| Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis |
OMIM:616326 |
| Myoclonus, Intractable, Neonatal |
|
Ptosis, Athetosis, Optic disc pallor |
OMIM:617235 |
| Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Clinodactyly of the 5th finger, Sandal gap, Single transverse palmar crease, 2-3 toe syndactyly, ... |
OMIM:617061 |
| Chime Syndrome |
|
Skin ulcer, Aplasia/Hypoplasia of the phalanges of the toes, Corneal opacity, Abnormal epiphysis ... |
ORPHA:3474 |
| Spinocerebellar Degeneration And Corneal Dystrophy |
|
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma |
OMIM:271310 |
| Keratoendotheliitis Fugax Hereditaria |
|
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis |
OMIM:148200 |
| Gorlin-Chaudhry-Moss Syndrome |
|
Astigmatism, Upper eyelid coloboma, Abnormal metacarpal morphology, Abnormal eyelid morphology, G... |
ORPHA:2095 |
| Spinocerebellar Ataxia With Epilepsy |
|
Optic atrophy, Ptosis, Tremor, Dystonia |
ORPHA:254881 |
| Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis |
|
Abnormal autonomic nervous system physiology |
ORPHA:83601 |
| Ascher Syndrome |
|
Ptosis, Abnormal eyelid morphology, Blepharophimosis, Upper eyelid edema |
ORPHA:1253 |
| Deafness, X-Linked 7 |
|
Ptosis, Thick eyebrow, Telecanthus |
OMIM:301018 |
| Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
| Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Cataract, Ptosis |
ORPHA:1875 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ptosis |
OMIM:617069 |
| De Barsy Syndrome |
|
Excessive wrinkled skin, Athetosis, Corneal opacity, Coxa vara, Cutis laxa, Congenital hip disloc... |
ORPHA:2962 |
| Autosomal Recessive Dopa-Responsive Dystonia |
|
Generalized dystonia, Oculogyric crisis, Limb dystonia, Focal dystonia, Ptosis, Postural tremor, ... |
ORPHA:101150 |
| Focal Dermal Hypoplasia |
|
Corneal opacity, Hypoplastic pelvis, Split foot, Upper limb asymmetry, Abnormal palmar dermatogly... |
ORPHA:2092 |
| Lichen Planopilaris |
|
Hypopigmented skin patches, Skin ulcer, Pterygium, Onycholysis, Abnormal fingernail morphology, A... |
ORPHA:525 |
| Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay |
|
Highly arched eyebrow, Ptosis, Long palpebral fissure, Corneal opacity |
OMIM:620469 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iia |
|
Decreased sensory nerve conduction velocity, Decreased nerve conduction velocity, Osteolytic defe... |
OMIM:201300 |
| Vps11-Related Autosomal Recessive Hypomyelinating Leukodystrophy |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:466934 |
| Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant |
|
Developmental cataract, Corneal opacity |
OMIM:618815 |
| Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ptosis, Resting tremor, Dystonia |
ORPHA:401768 |
| 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 |
|
Ptosis, Downslanted palpebral fissures, Unilateral narrow palpebral fissure |
ORPHA:3038 |
| Leukodystrophy, Demyelinating, Adult-Onset, Autosomal Dominant |
|
Autonomic erectile dysfunction, Orthostatic hypotension due to autonomic dysfunction, Autonomic b... |
OMIM:169500 |
| Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Abnormal hip bone mor... |
ORPHA:3236 |
| Wagr Syndrome |
|
Cataract, Ptosis, Aplasia/Hypoplasia of the iris |
ORPHA:893 |
| Non-Distal Deletion 10Q |
|
Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Synophrys, Ptosis, Ep... |
ORPHA:1581 |
| Wild Type Attr Amyloidosis |
|
Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic dysfunctio... |
ORPHA:330001 |
| Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Clinodactyly of the 5th finger, Aplastic/hypoplastic toenail, Highly arched eyebrow, Tapered fing... |
OMIM:619293 |
| Ablepharon Macrostomia Syndrome |
|
Breast hypoplasia, Excessive wrinkled skin, Corneal erosion, Absent eyelashes, Redundant skin, Co... |
ORPHA:920 |
| Chromosome 6Pter-P24 Deletion Syndrome |
|
Rocker bottom foot, Short palpebral fissure, Ocular anterior segment dysgenesis, Clinodactyly of ... |
OMIM:612582 |
| Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
| Rere-Related Neurodevelopmental Syndrome |
|
Optic atrophy, Astigmatism, Broad eyebrow, Ptosis, Chorioretinal coloboma, Epicanthus, Hip dyspla... |
ORPHA:494344 |
| Joubert Syndrome |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Foot polydactyly, Ptosis, Hand polydactyly,... |
ORPHA:475 |
| 3Mc Syndrome 3 |
|
Preaxial polydactyly, Highly arched eyebrow, Blepharophimosis, Corneal opacity, Ptosis, Epicanthu... |
OMIM:248340 |
| Pure Autonomic Failure |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:441 |
| Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Stillbirth, Elbow flexion contracture, Scapular winging, Internally rotated shoulders, Camptodact... |
OMIM:617468 |
| Young-Onset Parkinson Disease |
|
Tremor, Abnormal autonomic nervous system physiology, Dystonia |
ORPHA:2828 |
| Nail-Patella Syndrome |
|
Microphakia, Ridged nail, Concave nail, Disproportionate prominence of the femoral medial condyle... |
OMIM:161200 |
| Intellectual Developmental Disorder With Autism And Dysmorphic Facies |
|
Bilateral ptosis, Overlapping toe, Astigmatism |
OMIM:620021 |
| Thrombocytopenia-Absent Radius Syndrome |
|
Femoral bowing, Corneal opacity, Broad thumb, Bilateral radial aplasia, Absent thumb, Aplasia/hyp... |
OMIM:274000 |
| Blau Syndrome |
|
Iritis, Skin ulcer, Flexion contracture of toe, Abnormal cranial nerve morphology, Band keratopat... |
OMIM:186580 |
| Cornea Plana 2, Autosomal Recessive |
|
Corneal arcus, Decreased corneal thickness, Corneal opacity, Sclerocornea, Flat cornea |
OMIM:217300 |
| Alagille Syndrome |
|
Spina bifida occulta, Keratoconus, Corneal dystrophy, Downslanted palpebral fissures, Abnormal pu... |
ORPHA:52 |
| Leukodystrophy, Hypomyelinating, 12 |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
OMIM:616683 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2 |
|
Encephalocele, Hydrocephalus, Type II lissencephaly, Persistent pupillary membrane, Pachygyria, C... |
OMIM:613150 |
| Ruvalcaba Syndrome |
|
Hypopigmented skin patches, Clinodactyly of the 5th finger, Proximal placement of thumb, Abnormal... |
ORPHA:3121 |
| Bartsocas-Papas Syndrome 1 |
|
Ectropion, Small nail, Hypoplastic iliac wing, Oligodactyly, Short metacarpal, Ablepharon, Absent... |
OMIM:263650 |
| Wieacker-Wolff Syndrome |
|
High anterior hairline, Proximal placement of thumb, Facial palsy, Camptodactyly, Ptosis, Dystoni... |
OMIM:314580 |
| Combined Oxidative Phosphorylation Deficiency 47 |
|
Ptosis, Short palm, Cataract, Toe syndactyly, Cone-shaped epiphyses of the distal phalanges of th... |
OMIM:618958 |
| Indifference To Pain, Congenital, Autosomal Recessive |
|
Abnormal nerve conduction velocity, Abnormal autonomic nervous system physiology |
OMIM:243000 |
| Cleft Palate-Large Ears-Small Head Syndrome |
|
Short distal phalanx of finger, Ptosis, Ulnar deviation of finger, Hypoplastic toenails |
ORPHA:2013 |
| Alexander Disease Type Ii |
|
Abnormal autonomic nervous system physiology |
ORPHA:363722 |
| Legius Syndrome |
|
Inguinal freckling, Low posterior hairline, Cafe-au-lait spot, Ptosis, Downslanted palpebral fiss... |
OMIM:611431 |
| Proximal Xq28 Duplication Syndrome |
|
Ptosis, Blepharophimosis, Epicanthus |
ORPHA:1762 |
| Joubert Syndrome With Oculorenal Defect |
|
Aganglionic megacolon, Encephalocele, Highly arched eyebrow, Hydrocephalus, Ptosis, Abnormality o... |
ORPHA:2318 |
| Wolfram Syndrome 1 |
|
Optic atrophy, Tremor, Cataract, Ptosis, Limited mobility of proximal interphalangeal joint, Pigm... |
OMIM:222300 |
| Microphthalmia/Coloboma 9 |
|
Ocular anterior segment dysgenesis, Microcornea, Ptosis, Sclerocornea, Narrow palpebral fissure, ... |
OMIM:615145 |
| Agel Amyloidosis |
|
Bilateral ptosis, Nail dystrophy, Corneal ulceration, Facial palsy, Dry skin, Cataract, Cutis lax... |
ORPHA:85448 |
| Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Optic atrophy, Ptosis, Dystonia, Pigmentary retinopathy |
OMIM:252011 |
| X-Linked Endothelial Corneal Dystrophy |
|
Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy |
ORPHA:293621 |
| Wound Botulism |
|
Ptosis, Mydriasis |
ORPHA:178475 |
| Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ptosis, Tremor |
OMIM:618637 |
| Joubert Syndrome With Renal Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Ptosis, Hand polydactyly, Iris coloboma |
ORPHA:220497 |
| Chilblain Lupus |
|
Finger swelling, Skin ulcer |
ORPHA:90280 |
| Adult-Onset Autosomal Dominant Leukodystrophy |
|
Orthostatic hypotension, Tremor, Abnormal auditory evoked potentials, Abnormal autonomic nervous ... |
ORPHA:99027 |
| Ichthyosis Follicularis-Alopecia-Photophobia Syndrome |
|
Corneal erosion, Hyperconvex fingernails, Oligodactyly, Corneal opacity, Sparse hair, Thin finger... |
ORPHA:2273 |
| Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Ptosis, Erlenmeyer flask deformity of the femurs, Intention tremor |
OMIM:610539 |
| Trigeminal Neuralgia |
|
Allodynia, Cranial nerve compression |
ORPHA:221091 |
| Coffin-Siris Syndrome 2 |
|
Sandal gap, Small nail, Hirsutism, Sparse scalp hair, Long eyelashes, Ptosis, Thick eyebrow, Abse... |
OMIM:614607 |
| Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Nail dysplasia, Short palpebral fissure, Astigmatism, Clinodactyly of the 5th finger, Dry skin, S... |
OMIM:613026 |
| Walker-Warburg Syndrome |
|
Optic atrophy, Microcornea, Corneal opacity, Cataract, Metatarsus valgus, Chorioretinal dysplasia... |
ORPHA:899 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5 |
|
Cataract, Corneal opacity, Low anterior hairline |
OMIM:613153 |
| Complex Regional Pain Syndrome |
|
Abnormality of hair growth, Slow-growing nails, Dry skin, Allodynia, Edema of the upper limbs, Er... |
ORPHA:83452 |
| Anterior Segment Dysgenesis 2 |
|
Aniridia, Microcornea, Corneal opacity, Congenital aphakia, Anterior segment of eye aplasia, Scle... |
OMIM:610256 |
| Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Aplasia/hypoplasia of the femur, Proximal placement of thumb, Hypoplastic pubic ramus, Dislocated... |
OMIM:609945 |
| Temple-Baraitser Syndrome |
|
Bilateral ptosis, High anterior hairline, Hypoplastic fingernail, Aplastic/hypoplastic toenail, H... |
ORPHA:420561 |
| Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Epicanthus |
OMIM:619989 |
| Coats Disease |
|
Leukocoria |
OMIM:300216 |
| Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
| Joubert Syndrome 26 |
|
Ptosis |
OMIM:616784 |
| Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
| Frontoocular Syndrome |
|
Short palpebral fissure, Ptosis, Epicanthus, Upslanted palpebral fissure, Blepharophimosis |
OMIM:605321 |
| Crouzon Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Ptosis, Melanocytic nevus, Conjunctivitis, Iris coloboma |
ORPHA:207 |
| Mucopolysaccharidosis, Type Ivb |
|
Genu valgum, Corneal opacity, Bilateral talipes equinovarus, Hypoplasia of the capital femoral ep... |
OMIM:253010 |
| Dermatofibrosarcoma Protuberans |
|
Skin ulcer, Erythema |
ORPHA:31112 |
| Corneal Dystrophy And Perceptive Deafness |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:217400 |
| Baraitser-Winter Syndrome 1 |
|
Highly arched eyebrow, Long palpebral fissure, Ptosis, Chorioretinal coloboma, Epicanthus, Patent... |
OMIM:243310 |
| Anterior Segment Dysgenesis 5 |
|
Microcornea, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Developmental catarac... |
OMIM:604229 |
| Mosaic Trisomy 1 |
|
Rocker bottom foot, Deviation of the 5th toe, Congenital bilateral ptosis, Hypoplastic thumbnail,... |
ORPHA:1692 |
| Inhalational Botulism |
|
Ptosis, Mydriasis |
ORPHA:254504 |
| Borjeson-Forssman-Lehmann Syndrome |
|
Abnormal hip bone morphology, Tapered finger, Camptodactyly of toe, Ptosis, Thick eyebrow, Short ... |
ORPHA:127 |
| Romano-Ward Syndrome |
|
Abnormal autonomic nervous system physiology |
ORPHA:101016 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Alopecia of scalp, Abnormal hair quantity, Dry skin, Low posterior hai... |
ORPHA:2617 |
| Acrofrontofacionasal Dysostosis 1 |
|
Optic atrophy, S-shaped palpebral fissures, Acetabular dysplasia, Small nail, Long eyebrows, Shor... |
OMIM:201180 |
| Joubert Syndrome With Ocular Defect |
|
Aganglionic megacolon, Highly arched eyebrow, Tremor, Foot polydactyly, Ptosis, Hand polydactyly,... |
ORPHA:220493 |
| Distal Duplication 6P |
|
Abnormal hair quantity, Abnormal eyelash morphology, Dry skin, Ptosis, Cataract, Fine hair, Bleph... |
ORPHA:1745 |
| Keratitis, Hereditary |
|
Opacification of the corneal stroma, Keratitis |
OMIM:148190 |
| Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Abnormality of the hand, Ocular anterior segment dysgenesis, Camptodactyly, Horizontal eyebrow, P... |
ORPHA:369891 |
| Haddad Syndrome |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology |
ORPHA:99803 |
| Oculopharyngodistal Myopathy 2 |
|
Ptosis |
OMIM:618940 |
| Sjogren-Larsson Syndrome |
|
Abnormality of the nail, Astigmatism, Opacification of the corneal epithelium, Abnormal hair morp... |
OMIM:270200 |
| Autosomal Dominant Epidermolytic Ichthyosis |
|
Palmoplantar keratoderma, Skin ulcer, Conjunctival hamartoma |
ORPHA:312 |
| Noonan Syndrome 5 |
|
Multiple lentigines, Cubitus valgus, Small nail, Dry skin, Curly hair, Cafe-au-lait spot, Ptosis,... |
OMIM:611553 |
| Rubinstein-Taybi Syndrome |
|
Clinodactyly of the 5th finger, Telecanthus, Highly arched eyebrow, Finger syndactyly, Hip dyspla... |
ORPHA:783 |
| Cardiofaciocutaneous Syndrome |
|
Multiple lentigines, Sparse or absent eyelashes, Redundant skin, Low posterior hairline, Sparse h... |
ORPHA:1340 |
| Leigh Syndrome |
|
Optic atrophy, Ptosis, Dystonia, Hypertrichosis, Pigmentary retinopathy |
OMIM:256000 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ptosis |
OMIM:617070 |
| Necrobiosis Lipoidica |
|
Abnormality of the hand, Skin ulcer, Abnormal forearm morphology, Erythema |
ORPHA:542592 |
| Benign Schwannoma |
|
Abnormality of the twelfth cranial nerve, Abnormal cranial nerve morphology, Abnormality of perip... |
ORPHA:252164 |
| Flynn-Aird Syndrome |
|
Cataract, Skin ulcer, Alopecia |
ORPHA:2047 |
| Proboscis Lateralis |
|
Iris coloboma, Optic nerve hypoplasia, Orbital cyst, Abnormal nasolacrimal system morphology, Abn... |
ORPHA:141099 |
| Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Ptosis, High anterior hairline, Orthostatic hypotension, Anisocoria |
OMIM:615510 |
| Juvenile Sialidosis Type 2 |
|
Optic atrophy, Generalized hypertrichosis, Corneal opacity, Cataract |
ORPHA:93399 |
| Ollier Disease |
|
Abnormal metaphysis morphology, Skin ulcer, Micromelia |
ORPHA:296 |
| Myopathy, Centronuclear, 1 |
|
Proximal upper limb amyotrophy, Ptosis, Proximal muscle weakness in upper limbs, Facial palsy |
OMIM:160150 |
| Chromosome 8Q21.11 Deletion Syndrome |
|
Short palpebral fissure, Short metacarpal, Camptodactyly, Ptosis, Downslanted palpebral fissures,... |
OMIM:614230 |
| Pontocerebellar Hypoplasia, Type 16 |
|
Optic atrophy, Ptosis, Cataract |
OMIM:619527 |
| Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Telecanthus, Highly arched eyebrow, Absent eyelashes, Ptosis, Absent lacrimal punctum, Thick eyebrow |
ORPHA:228396 |
| Werner Syndrome |
|
Premature graying of hair, Rocker bottom foot, Skin ulcer, Sparse scalp hair, White forelock, Abn... |
ORPHA:902 |
| Hurler Syndrome |
|
Abnormal diaphysis morphology, Abnormal nerve conduction velocity, Corneal opacity, Abnormal epip... |
ORPHA:93473 |
| Hereditary Acrokeratotic Poikiloderma |
|
Irregular hyperpigmentation, Ectropion, Nail dystrophy, Dystrophic fingernails, Hypopigmented ski... |
ORPHA:2907 |
| Melkersson-Rosenthal Syndrome |
|
Facial palsy, Abnormal autonomic nervous system physiology |
ORPHA:2483 |
| Attrv122I Amyloidosis |
|
Abnormal enteric nervous system morphology, Abnormal autonomic nervous system physiology |
ORPHA:85451 |
| Mucopolysaccharidosis, Type Vii |
|
Narrow greater sciatic notch, Genu valgum, Talipes equinovarus, Hirsutism, Corneal opacity, Large... |
OMIM:253220 |
| Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Palpebral edema, Telecanthus, Highly arched eyebrow, Polymicrogyria, Euryblepharon, Microcornea, ... |
ORPHA:2995 |
| Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles |
OMIM:602078 |
| Trisomy 5P |
|
Ptosis, Abnormal metacarpal morphology |
ORPHA:1742 |
| Alexander Disease |
|
Hyperpigmented nevi, Tremor, Facial palsy, Abnormal autonomic nervous system physiology, Ptosis |
ORPHA:58 |
| Infantile Sialic Acid Storage Disease |
|
Hypopigmentation of the skin, Ptosis, Epicanthus, Metaphyseal irregularity, Fair hair |
OMIM:269920 |
| Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Ptosis, Facial palsy |
OMIM:608930 |
| Congenital Factor Xii Deficiency |
|
Penetrating foot ulcers |
ORPHA:330 |
| Chromosome 3Q13.31 Deletion Syndrome |
|
Ptosis, Downslanted palpebral fissures, Epicanthus, Alobar holoprosencephaly |
OMIM:615433 |
| Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Ptosis, Abnormal auditory evoked potentials |
OMIM:125250 |
| Acrofrontofacionasal Dysostosis 2 |
|
Redundant neck skin, Broad thumb, Ptosis, Downslanted palpebral fissures, Hand polydactyly, Broad... |
OMIM:239710 |
| Brachyolmia Type 1, Toledo Type |
|
Broad tibial metaphyses, Opacification of the corneal stroma, Short femoral neck |
OMIM:271630 |
| Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome |
|
Optic atrophy, Bilateral ptosis, Flexion contracture of the 2nd finger, Joint contracture of the ... |
ORPHA:324540 |
| Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Increased carrying angle, Ptosis, Brachydactyly, Cataract, Hypertrichosis |
OMIM:247410 |
| Oculopharyngeal Muscular Dystrophy |
|
Ptosis |
ORPHA:270 |
| Gm1-Gangliosidosis, Type Iii |
|
Opacification of the corneal stroma, Dystonia, Hypoplastic acetabulae, Flared iliac wing |
OMIM:230650 |
| Frias Syndrome |
|
Ptosis, Downslanted palpebral fissures |
OMIM:609640 |
| Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Ptosis |
OMIM:616324 |
| Axenfeld-Rieger Syndrome, Type 1 |
|
Polycoria, Aniridia, Microcornea, Megalocornea, Hypoplasia of the iris, Posterior embryotoxon, Ri... |
OMIM:180500 |
| Fatal Familial Insomnia |
|
Abnormal autonomic nervous system physiology |
OMIM:600072 |
| Combined Oxidative Phosphorylation Deficiency 32 |
|
Optic atrophy, Tremor, Ptosis, Dystonia, Choreoathetosis |
OMIM:617664 |
| Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Optic atrophy, Scaling skin, Leukonychia, Skin ulcer, Abnormal hair morphology, Abnormal nasolacr... |
ORPHA:2526 |
| Van Den Ende-Gupta Syndrome |
|
Dislocated radial head, Femoral bowing, Arachnodactyly, Abnormal eyebrow morphology, Slender meta... |
OMIM:600920 |
| Arthrogryposis, Distal, Type 2A |
|
Rocker bottom foot, Flexion contracture of toe, Telecanthus, Shoulder flexion contracture, Elbow ... |
OMIM:193700 |
| Dyschondrosteosis-Nephritis Syndrome |
|
Madelung deformity, Ulnar bowing, Corneal opacity, Micromelia, Aplasia/Hypoplasia of the radius, ... |
ORPHA:1765 |
| Galloway-Mowat Syndrome 1 |
|
Optic atrophy, Small nail, Hypopigmentation of the skin, Camptodactyly, Slender finger, Hypoplasi... |
OMIM:251300 |
| Freeman-Sheldon Syndrome |
|
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Absent palmar crease, Ulnar devi... |
ORPHA:2053 |
| Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Broad distal phalanx of finger, Proximal placement of thumb, Highly arched eyebrow, Palmar edema,... |
ORPHA:2988 |
| Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
|
Anisocoria |
OMIM:300858 |
| Leukodystrophy, Hypomyelinating, 20 |
|
Ptosis, Hirsutism, Dystonia, Torticollis |
OMIM:619071 |
| Persistent Hyperplastic Primary Vitreous |
|
Microcornea, Corneal opacity, Persistent pupillary membrane, Shallow anterior chamber, Developmen... |
ORPHA:91495 |
| X-Linked Creatine Transporter Deficiency |
|
Aganglionic megacolon, Redundant skin, Athetosis, Ptosis, Dystonia |
ORPHA:52503 |
| Corneal Dystrophy, Fuchs Endothelial, 3 |
|
Corneal stromal edema, Corneal opacity, Corneal guttata |
OMIM:613267 |
| Mucopolysaccharidosis Type 1 |
|
Optic atrophy, Abnormal metaphysis morphology, Abnormal hip bone morphology, Split hand, Corneal ... |
ORPHA:579 |
| Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Ptosis, Abnormal metacarpal morphology, Brachydactyly |
ORPHA:93262 |
| Chromosome 3Pter-P25 Deletion Syndrome |
|
Highly arched eyebrow, Tapered finger, Synophrys, Postaxial polydactyly, Ptosis, Epicanthus, Over... |
OMIM:613792 |
| Immunodeficiency 107, Susceptibility To Invasive Staphylococcus Aureus Infection |
|
Pyoderma gangrenosum |
OMIM:619986 |
| Lowry-Maclean Syndrome |
|
Developmental glaucoma, Single transverse palmar crease, Generalized hypertrichosis, Corneal opac... |
ORPHA:2409 |
| Fountain Syndrome |
|
Abnormal metacarpal morphology, Synophrys, Ptosis, Large hands, Thick eyebrow, Coarse metaphyseal... |
ORPHA:3219 |
| Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ptosis |
ORPHA:663 |
| Charcot-Marie-Tooth Disease Type 4C |
|
Optic atrophy, Hammertoe, Head tremor, Anisocoria, Facial paralysis, Hip dysplasia, Decreased mot... |
ORPHA:99949 |
| Lambert-Eaton Myasthenic Syndrome |
|
Abnormality of the orbital region, Keratoconjunctivitis sicca, Abnormal autonomic nervous system ... |
ORPHA:43393 |
| Acrocraniofacial Dysostosis |
|
Genu valgum, Triphalangeal thumb, Abnormal hip bone morphology, Telecanthus, Partial duplication ... |
ORPHA:949 |
| Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Optic atrophy, Cubitus valgus, Slender long bone, Ptosis, Epicanthus, Coarse hair |
ORPHA:1185 |
| Frontofacionasal Dysplasia |
|
S-shaped palpebral fissures, Iris coloboma, Telecanthus, Microcornea, Ptosis, Cranium bifidum occ... |
OMIM:229400 |
| Microcephaly-Capillary Malformation Syndrome |
|
Optic atrophy, Small nail, Ptosis, Brachydactyly, Short distal phalanx of finger, Abnormal hair w... |
OMIM:614261 |
| Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Optic atrophy, Ptosis, Dystonia |
OMIM:618226 |
| Amoebic Keratitis |
|
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal ulceration,... |
ORPHA:67043 |
| Muenke Syndrome |
|
Hypopigmented skin patches, Hypermelanotic macule, Tarsal synostosis, Cone-shaped epiphysis, Hypo... |
ORPHA:53271 |
| 3Q29 Microduplication Syndrome |
|
Aniridia, Sandal gap, Camptodactyly of toe, Downslanted palpebral fissures, Sclerocornea, Catarac... |
ORPHA:251038 |
| Joubert Syndrome 30 |
|
Ptosis, Gray matter heterotopia, Polymicrogyria |
OMIM:617622 |
| Richieri-Costa/Guion-Almeida Syndrome |
|
Abnormal digit morphology, Ptosis, Downslanted palpebral fissures, Eyelid coloboma, Palmoplantar ... |
OMIM:268850 |
| Microcephalic Primordial Dwarfism, Montreal Type |
|
Premature graying of hair, Ptosis, Alopecia of scalp, Excessive wrinkling of palmar skin |
OMIM:210700 |
| Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type |
|
Bilateral talipes equinovarus, Mesomelia, Limb undergrowth, Shortening of all phalanges of finger... |
OMIM:601356 |
| Hypotonia-Cystinuria Syndrome |
|
Ptosis, Epicanthus |
ORPHA:163690 |
| Congenital Hereditary Endothelial Dystrophy Type Ii |
|
Corneal stromal edema, Corneal opacity, Abnormal Descemet membrane morphology, Increased corneal ... |
ORPHA:293603 |
| Bachmann-Bupp Syndrome |
|
Clinodactyly of the 5th finger, Small nail, Sparse scalp hair, Dry skin, Absent eyebrow, Sparse e... |
OMIM:619075 |
| Mosaic Trisomy 14 |
|
Bilateral single transverse palmar creases, Ptosis, Blepharophimosis, Camptodactyly of finger |
ORPHA:1703 |
| Al-Gazali Syndrome |
|
Broad distal phalanx of finger, Bowed humerus, Proximal radio-ulnar synostosis, Corneal opacity, ... |
OMIM:609465 |
| Foxp1 Syndrome |
|
Single transverse palmar crease, Prominent fingertip pads, Ptosis, Downslanted palpebral fissures... |
ORPHA:391372 |
| Myopathy, Centronuclear, 2 |
|
Ptosis, Facial palsy, Talipes equinovarus, Scapular winging |
OMIM:255200 |
| Myasthenic Syndrome, Congenital, 10 |
|
Ptosis |
OMIM:254300 |
| Rett Syndrome |
|
Dystonia, Abnormal autonomic nervous system physiology |
ORPHA:778 |
| Premature Aging Syndrome, Penttinen Type |
|
Palmoplantar hyperkeratosis, Slender long bone, Corneal stromal edema, Tibial bowing, Osteolytic ... |
OMIM:601812 |
| Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Ptosis |
ORPHA:324262 |
| Hurler Syndrome |
|
Diaphyseal undertubulation, Bilateral ptosis, Short clavicles, Hirsutism, Corneal opacity, Flared... |
OMIM:607014 |
| Bickerstaff Brainstem Encephalitis |
|
Mydriasis, Abnormal cranial nerve morphology, Facial palsy, Anisocoria, Abnormality of the autono... |
ORPHA:79138 |
| Oculopharyngeal Muscular Dystrophy 2 |
|
Ptosis |
OMIM:620460 |
| Intellectual Disability-Brachydactyly-Pierre Robin Syndrome |
|
Short palpebral fissure, Aplasia of the distal phalanx of the 5th toe, Telecanthus, Small nail, C... |
ORPHA:364577 |
| Rapp-Hodgkin Syndrome |
|
Nail dystrophy, 2-3 toe cutaneous syndactyly, Pili canaliculi, Decreased number of sweat glands, ... |
OMIM:129400 |
| Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Bilateral ptosis, 2-3 toe syndactyly, Curly hair, Synophrys, Epicanthus, Upslanted palpebral fiss... |
OMIM:616351 |
| Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Ptosis, Downslanted palpebral fissures, Optic nerve hypoplasia, Spina bifida occulta |
OMIM:618736 |
| Warburg Micro Syndrome 4 |
|
Optic atrophy, Microcornea, Hirsutism, Ptosis, Low anterior hairline, Developmental cataract, Dec... |
OMIM:615663 |
| Autosomal Dominant Keratitis |
|
Corneal neovascularization, Aniridia, Limbal stem cell deficiency, Microcornea, Abnormal corneal ... |
ORPHA:2334 |
| Char Syndrome |
|
Clinodactyly of the 5th finger, Symphalangism of the 5th finger, Mesoaxial foot polydactyly, Shor... |
ORPHA:46627 |
| Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
| Microphthalmia/Coloboma 12 |
|
Corneal opacity, Optic nerve aplasia, Chorioretinal coloboma, Optic disc coloboma, Peters anomaly |
OMIM:120200 |
| Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Long eyelashes, Synophrys, Ptosis, Downslanted palpebral fissures, Patent ... |
OMIM:615009 |
| Stromme Syndrome |
|
Stillbirth, Preaxial polydactyly, Optic nerve hypoplasia, Microcornea, Sclerocornea, Cataract, Pe... |
OMIM:243605 |
| Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Ptosis, Facial palsy |
OMIM:616313 |
| Tyrosinemia Type 2 |
|
Abnormality of the nail, Palmoplantar keratoderma, Corneal opacity, Tremor |
ORPHA:28378 |
| 2P15P16.1 Microdeletion Syndrome |
|
Optic atrophy, Bilateral single transverse palmar creases, Telecanthus, Sandal gap, Optic nerve h... |
ORPHA:261349 |
| Brittle Cornea Syndrome 2 |
|
Keratoglobus, Keratoconus, Decreased corneal thickness, Megalocornea, Sclerocornea, Flat cornea, ... |
OMIM:614170 |
| Pde4D Haploinsufficiency Syndrome |
|
Short metatarsal, Upper limb undergrowth, Bilateral coxa valga, Short metacarpal, Broad metatarsa... |
ORPHA:439822 |
| Dyskeratosis Congenita |
|
Premature graying of hair, Hypopigmented skin patches, Hypermelanotic macule, Nail dystrophy, Ski... |
ORPHA:1775 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Abnormal autonomic nervous system physiology, Shallow orbits, Long palpebral fissure, Ptosis, Hip... |
ORPHA:453499 |
| Saethre-Chotzen Syndrome |
|
Optic atrophy, Bilateral single transverse palmar creases, Clinodactyly of the 5th finger, Tripha... |
ORPHA:794 |
| Rhyns Syndrome |
|
Abnormal long bone morphology, Small epiphyses, Hypoplastic ilia, Ptosis, Abnormal acetabulum mor... |
ORPHA:140976 |
| Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Ptosis, Upslanted palpebral fissure, Synophrys |
OMIM:616083 |
| Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Ptosis, Downslanted palpebral fissures |
OMIM:615032 |
| Familial Pterygium Of The Conjunctiva |
|
Opacification of the corneal stroma |
ORPHA:2989 |
| Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis, Facial palsy |
OMIM:608931 |
| Combined Oxidative Phosphorylation Defect Type 29 |
|
Abnormal autonomic nervous system physiology, Optic neuropathy |
ORPHA:478029 |
| Distal Duplication 15Q |
|
Camptodactyly of finger, Ptosis, Downslanted palpebral fissures, Arachnodactyly, Blepharophimosis |
ORPHA:1707 |
| Alpha-Mannosidosis, Adult Form |
|
Cataract, Corneal opacity, Optic disc pallor |
ORPHA:309288 |
| Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Ptosis, Clinodactyly of the 5th finger, Small hand |
ORPHA:2868 |
| Tbck-Related Intellectual Disability Syndrome |
|
Broad finger, Broad toe, 2-3 toe syndactyly, Hirsutism, Corneal opacity, Synophrys, Thick eyebrow... |
ORPHA:488632 |
| 16P12.1P12.3 Triplication Syndrome |
|
Short palpebral fissure, 2-3 toe syndactyly, Prominent fingertip pads, Unilateral ptosis, Thick e... |
ORPHA:485405 |
| Congenital Primary Aphakia |
|
Developmental glaucoma, Aniridia, Aplasia/Hypoplasia affecting the anterior segment of the eye, C... |
ORPHA:83461 |
| Teebi Hypertelorism Syndrome 2 |
|
Clinodactyly of the 5th finger, Upper eyelid coloboma, Ptosis, Thick eyebrow, Syndactyly |
OMIM:619736 |
| Ichthyosis, X-Linked |
|
Palmoplantar keratoderma, Palmar hyperlinearity, Opacification of the corneal stroma |
OMIM:308100 |
| Chromosome 5Q12 Deletion Syndrome |
|
Astigmatism, Long palpebral fissure, Ptosis, Long fingers, Epicanthus, Long toe |
OMIM:615668 |
| Kaufman Oculocerebrofacial Syndrome |
|
Astigmatism, Clinodactyly of the 5th finger, Telecanthus, Single transverse palmar crease, Microc... |
OMIM:244450 |
| Isolated Agammaglobulinemia |
|
Clinodactyly of the 5th toe, Skin ulcer |
ORPHA:229717 |
| Codas Syndrome |
|
Short metacarpal, Abnormal epiphysis morphology, Congenital hip dislocation, Abnormal pelvic gird... |
ORPHA:1458 |
| Noonan Syndrome 9 |
|
Ptosis, Downslanted palpebral fissures, Prominent corneal nerve fibers, Sparse eyebrow |
OMIM:616559 |
| Prolidase Deficiency |
|
Skin ulcer, Facial hirsutism, Petechiae, Low posterior hairline, Ptosis |
OMIM:170100 |
| Noonan Syndrome 11 |
|
Ptosis, Downslanted palpebral fissures, Palmoplantar cutis laxa |
OMIM:618499 |
| Aplasia Cutis-Myopia Syndrome |
|
Abnormality of retinal pigmentation, Skin ulcer |
ORPHA:1117 |
| Refsum Disease |
|
Nail dysplasia, Hammertoe, Short metacarpal, Dry skin, Abnormal epiphysis morphology, Ptosis, Abn... |
ORPHA:773 |
| Foodborne Botulism |
|
Ptosis, Mydriasis |
ORPHA:228371 |
| Scheie Syndrome |
|
Corneal opacity, Abnormal nerve conduction velocity |
ORPHA:93474 |
| Coenzyme Q10 Deficiency, Primary, 4 |
|
Ptosis, Tremor |
OMIM:612016 |
| Gelatinous Drop-Like Corneal Dystrophy |
|
Corneal neovascularization, Central opacification of the cornea, Conjunctival amyloidosis, Subepi... |
ORPHA:98957 |
| Coffin-Siris Syndrome 3 |
|
Hirsutism, Sparse scalp hair, Long eyelashes, Ptosis, Thick eyebrow, Short distal phalanx of the ... |
OMIM:614608 |
| Isolated Atp Synthase Deficiency |
|
Optic atrophy, Ptosis, Dystonia, Cataract |
ORPHA:254913 |
| Schimmelpenning-Feuerstein-Mims Syndrome |
|
Abnormal finger morphology, Corneal opacity, Hypopigmentation of the skin, Abnormal toe morpholog... |
OMIM:163200 |
| Diamond-Blackfan Anemia 21 |
|
Genu valgum, Cubitus valgus, Sandal gap, Clinodactyly of the thumb, Synophrys, Horizontal eyebrow... |
OMIM:620072 |
| Dracunculiasis |
|
Skin ulcer |
ORPHA:231 |
| Smith-Lemli-Opitz Syndrome |
|
Proximal placement of thumb, Mesomelia, Hip dislocation, Optic atrophy, Aganglionic megacolon, Rh... |
ORPHA:818 |
| Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Premature graying of hair, Broad finger, Abnormal hand morphology, Ptosis, Short phalanx of finge... |
OMIM:300845 |
| Oculopharyngodistal Myopathy 3 |
|
Ptosis, Tremor, Pigmentary retinopathy |
OMIM:619473 |
| Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ptosis |
OMIM:254210 |
| Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hip bone morphology, Facial palsy, Ptosis, Downslanted p... |
ORPHA:3068 |
| Arthrogryposis, Distal, Type 3 |
|
Single transverse palmar crease, Ulnar deviation of the hand or of fingers of the hand, Congenita... |
OMIM:114300 |
| Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Short palpebral fissure, Redundant neck skin, Telecanthus, Highly arched eyebrow, Low posterior h... |
OMIM:617360 |
| Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Cataract, Ptosis, Intention tremor, Tortuosity of conjunctival vessels |
ORPHA:284289 |
| Chromosome 2P16.1-P15 Deletion Syndrome |
|
Short palpebral fissure, Telecanthus, Optic nerve hypoplasia, Calcaneovalgus deformity, Camptodac... |
OMIM:612513 |
| Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Ptosis, Optic disc pallor, Long eyelashes |
OMIM:619076 |
| Congenital Disorder Of Deglycosylation 1 |
|
Decreased sensory nerve conduction velocity, Corneal ulceration, Single transverse palmar crease,... |
OMIM:615273 |
| Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome |
|
Developmental glaucoma, Corneal opacity, Aniridia, Telecanthus |
ORPHA:1064 |
| Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Finger syndactyly, Ptosis, Downslanted palpebral fissures, Sparse eyebrow, Arachnodactyly, Short ... |
ORPHA:73246 |
| Postsynaptic Congenital Myasthenic Syndromes |
|
Facial palsy, Triceps weakness, Abnormality of the musculature of the upper limbs, Weakness of th... |
ORPHA:98913 |
| Peroxisome Biogenesis Disorder 1A (Zellweger) |
|
Rocker bottom foot, Redundant neck skin, Cubitus valgus, Talipes equinovarus, Epiphyseal stipplin... |
OMIM:214100 |
| Arthrogryposis Multiplex Congenita 5 |
|
Rocker bottom foot, Premature skin wrinkling, Talipes equinovarus, Hammertoe, Elbow flexion contr... |
OMIM:618947 |
| Epithelial Recurrent Erosion Dystrophy |
|
Recurrent corneal erosions, Corneal dystrophy, Subepithelial corneal opacities, Corneal scarring,... |
ORPHA:293381 |
| Branchio-Oculo-Facial Syndrome |
|
Premature graying of hair, Iris coloboma, Microcornea, Cataract, Ptosis, Fingernail dysplasia, Up... |
ORPHA:1297 |
| Mcdonough Syndrome |
|
Bilateral single transverse palmar creases, Ptosis, Short palpebral fissure, Synophrys |
ORPHA:2471 |
| Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
| Peters Anomaly |
|
Developmental glaucoma, Central opacification of the cornea, Subcapsular cataract, Thinning of De... |
ORPHA:708 |
| Meckel Syndrome, Type 10 |
|
Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ptosis, Ulnar deviation of the ... |
OMIM:614175 |
| Recessive X-Linked Ichthyosis |
|
Opacification of the corneal stroma, Dry skin |
ORPHA:461 |
| Chromosome 17P13.1 Deletion Syndrome |
|
Proximal placement of thumb, Telecanthus, Highly arched eyebrow, Hallux valgus, Elbow flexion con... |
OMIM:613776 |
| Monosomy 18P |
|
Low posterior hairline, Ptosis, Brachydactyly, Epicanthus, Generalized dystonia, Alopecia |
ORPHA:1598 |
| Microphthalmia, Isolated 2 |
|
Opacification of the corneal stroma |
OMIM:610093 |
| Mosaic Trisomy 9 |
|
Rocker bottom foot, Finger clinodactyly, Deep palmar crease, Small nail, Corneal opacity, Microme... |
ORPHA:99776 |
| Hengel-Maroofian-Schols Syndrome |
|
Synophrys, Ptosis, Dystonia, Thick eyebrow, Epicanthus |
OMIM:619641 |
| Hurler-Scheie Syndrome |
|
Hirsutism, Corneal opacity, Camptodactyly of finger, Thenar muscle atrophy, Contracture of the di... |
OMIM:607015 |
| Hajdu-Cheney Syndrome |
|
Skin ulcer, Telecanthus, Partial absence of toe, Dry skin, Bowing of the long bones, Synophrys, C... |
ORPHA:955 |
| Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
High anterior hairline, Supernumerary nipple, Joint contracture of the 5th finger, Single transve... |
OMIM:620098 |
| Congenital Myopathy 4A, Autosomal Dominant |
|
Ptosis, Facial palsy, Congenital hip dislocation |
OMIM:255310 |
| Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
|
Abnormality of skin pigmentation, Purpura, Skin ulcer |
ORPHA:743 |
| Neurocardiofaciodigital Syndrome |
|
Polydactyly, Sparse eyebrow, Sclerocornea, Syndactyly, Sparse hair, Cataract, Narrow palpebral fi... |
OMIM:619869 |
| Wagro Syndrome |
|
Aniridia, Corneal opacity, Ptosis, Downslanted palpebral fissures, Cataract |
OMIM:612469 |
| Fuchs Endothelial Corneal Dystrophy |
|
Abnormal Descemet membrane morphology, Abnormal corneal endothelium morphology, Reduced number of... |
ORPHA:98974 |
| Attenuated Chédiak-Higashi Syndrome |
|
Generalized hypopigmentation, Skin ulcer, Ocular albinism |
ORPHA:352723 |
| Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Limited elbow movement, Clinodactyly of the 5th finger, Proximal placement of thumb, Thick hair, ... |
OMIM:610759 |
| Infantile Myofibromatosis |
|
Irregular hyperpigmentation, Skin ulcer, Abnormal metaphysis morphology, Abnormal hair morphology |
ORPHA:2591 |
| Infant Botulism |
|
Ptosis, Mydriasis, Keratoconjunctivitis sicca |
ORPHA:178478 |
| Cardiofaciocutaneous Syndrome 2 |
|
Curly hair, Absent eyebrow, Ptosis, Sparse hair, Fine hair |
OMIM:615278 |
| Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques |
|
Skin ulcer, Abnormal fingernail morphology, Sparse hair, Palmoplantar keratoderma, Palmoplantar h... |
ORPHA:659 |
| Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ptosis |
OMIM:605809 |
| Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Clinodactyly of the 5th finger, Torticollis, Telecanthus, Athetosis, Bilateral talipes equinovaru... |
OMIM:620224 |
| Neurofibromatosis-Noonan Syndrome |
|
Ptosis, Downslanted palpebral fissures |
ORPHA:638 |
| Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Tremor, Ptosis, Dystonia, Epicanthus, Choreoathetosis |
OMIM:615673 |
| Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis, Flat cornea |
OMIM:618283 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Overlapping fingers, Finger syndactyly, Single transverse palmar crease, 2-3 toe syndactyly, Broa... |
ORPHA:464738 |
| Pyruvate Dehydrogenase E2 Deficiency |
|
Paroxysmal dystonia, Ptosis, Dystonia, Generalized dystonia, Choreoathetosis |
OMIM:245348 |
| Spinocerebellar Ataxia 47 |
|
Ptosis, Tapered finger, Clinodactyly, Small hand |
OMIM:617931 |
| Developmental Delay, Dysmorphic Facies, And Brain Anomalies |
|
Ptosis, Thick eyebrow, Upslanted palpebral fissure |
OMIM:620535 |
| X-Linked Agammaglobulinemia |
|
Hypopigmented skin patches, Alopecia, Skin ulcer, Conjunctivitis |
ORPHA:47 |
| Stüve-Wiedemann Syndrome |
|
Abnormal metaphysis morphology, Genu valgum, Elbow flexion contracture, Abnormal autonomic nervou... |
ORPHA:3206 |
| Sponastrime Dysplasia |
|
Short long bone, Congenital aphakia, Mesomelia, Metaphyseal irregularity, Flattened humeral epiph... |
ORPHA:93357 |
| Nager Syndrome |
|
Hypoplasia of the radius, Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Phocomelia, Ptosi... |
ORPHA:245 |
| Farber Disease |
|
Abnormality of the hand, Short finger, Abnormality of the wrist, Corneal opacity, Short toe, Abno... |
ORPHA:333 |
| Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis, Radial deviation of finger, Clinodactyly |
OMIM:188025 |
| Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Hydrocephalus, Polymicrogyria, Long palpebral fissure, Ptosis, Pachygyria |
OMIM:603387 |
| Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Optic atrophy, Ptosis, Dystonia, Brachydactyly, Epicanthus, Lacrimal duct stenosis |
ORPHA:457193 |
| Dubowitz Syndrome |
|
Sandal gap, Broad thumb, Abnormality of thumb phalanx, Fine hair, Aplasia/Hypoplasia of the thumb... |
ORPHA:235 |
| Al Amyloidosis |
|
Autonomic erectile dysfunction, Abnormal autonomic nervous system physiology, Postural hypotensio... |
ORPHA:85443 |
| Adult Intestinal Botulism |
|
Ptosis |
ORPHA:178487 |
| Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Ptosis, Downslanted palpebral fissures, Tremor |
ORPHA:442835 |
| Wolf-Hirschhorn Syndrome |
|
Optic atrophy, High anterior hairline, Hypoplastic pubic ramus, Short hallux, Highly arched eyebr... |
ORPHA:280 |
| Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
| Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Ptosis, Tremor, Dystonia, Choreoathetosis |
OMIM:312170 |
| Larsen Syndrome |
|
Spatulate thumbs, Multiple carpal ossification centers, Short metatarsal, Talipes equinovarus, Co... |
OMIM:150250 |
| Mucolipidosis Type Iv |
|
Palmoplantar keratoderma, Abnormality of retinal pigmentation, Corneal opacity |
ORPHA:578 |
| Dystonia 34, Myoclonic |
|
Torticollis, Writer's cramp, Head tremor, Ptosis, Dystonia, Hand tremor |
OMIM:619724 |
| Takenouchi-Kosaki Syndrome |
|
Optic atrophy, Proximal placement of thumb, Highly arched eyebrow, Tapered finger, Camptodactyly,... |
OMIM:616737 |
| Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies |
|
Highly arched eyebrow, 2-3 toe syndactyly, Anisocoria, Epicanthus, Tibial torsion, Overlapping to... |
OMIM:618653 |
| Xeroderma Pigmentosum |
|
Optic atrophy, Ectropion, Hypermelanotic macule, Hypopigmented skin patches, Entropion, Pterygium... |
ORPHA:910 |
| Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Ptosis, Decreased nerve conduction velocity, Generalized hirsutism |
ORPHA:1933 |
| Childhood-Onset Nemaline Myopathy |
|
Ptosis, Facial diplegia, Scapular winging |
ORPHA:171439 |
| Fryns Syndrome |
|
Aganglionic megacolon, Hypoplastic fingernail, Clinodactyly of the 5th finger, Corneal opacity, S... |
ORPHA:2059 |
| Neuropathy, Hereditary Sensory And Autonomic, Type Iib |
|
Osteolytic defects of the phalanges of the hand, Acral ulceration, Autoamputation of digits |
OMIM:613115 |
| Autosomal Dominant Optic Atrophy, Classic Form |
|
Optic atrophy, Temporal optic disc pallor, Scapular winging, Ptosis, Cataract |
ORPHA:98673 |
| Serotonin Syndrome |
|
Mydriasis, Tremor, Abnormality of the autonomic nervous system |
ORPHA:43116 |
| Chromosome 18P Deletion Syndrome |
|
Redundant neck skin, Radial deviation of finger, Clinodactyly of the 5th finger, Coxa vara, Ptosi... |
OMIM:146390 |
| Koolen-De Vries Syndrome |
|
Abnormality of hair texture, Prominent fingertip pads, Dry skin, Slender finger, Narrow palm, Pto... |
OMIM:610443 |
| Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
| Aarskog-Scott Syndrome |
|
Radial deviation of finger, Hyperextensibility of the finger joints, Single transverse palmar cre... |
OMIM:305400 |
| Developmental And Epileptic Encephalopathy 18 |
|
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures |
OMIM:615476 |
| Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities |
|
Dry hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Corneal opacity, Sparse scal... |
OMIM:620519 |
| Noonan Syndrome 4 |
|
Bilateral ptosis, High anterior hairline, Cubitus valgus, Curly hair, Ptosis, Downslanted palpebr... |
OMIM:610733 |
| Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Tremor, Dystonia, Oculogyric crisis |
ORPHA:70594 |
| Fish-Eye Disease |
|
Opacification of the corneal stroma |
OMIM:136120 |
| Oculopalatocerebral Syndrome |
|
Leukocoria |
OMIM:257910 |
| Myasthenic Syndrome, Congenital, 5 |
|
Ptosis |
OMIM:603034 |
| Mucopolysaccharidosis Type 3 |
|
Optic atrophy, Coarse hair, Genu valgum, Thick hair, Hirsutism, Corneal opacity, Synophrys, Gener... |
ORPHA:581 |
| Anterior Segment Dysgenesis 6 |
|
Corneal neovascularization, Developmental glaucoma, Corneal opacity, Abnormal Descemet membrane m... |
OMIM:617315 |
| Tick-Borne Encephalitis |
|
Abnormal glossopharyngeal nerve morphology, Abnormal cranial nerve morphology, Tremor, Facial pal... |
ORPHA:297 |
| Koolen-De Vries Syndrome |
|
Hypopigmentation of hair, Abnormality of hair texture, Dry skin, Ptosis, Arachnodactyly, Epicanth... |
ORPHA:96169 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Shoulder flexion cont... |
OMIM:619566 |
| Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Ptosis, Torticollis, Pseudoarthrosis |
OMIM:618155 |
| Joubert Syndrome 3 |
|
Highly arched eyebrow, Ptosis, Frontal polymicrogyria, Epicanthus |
OMIM:608629 |
| Bare Lymphocyte Syndrome, Type I |
|
Ectopia lentis, Skin ulcer |
OMIM:604571 |
| Cornelia De Lange Syndrome 1 |
|
Proximal placement of thumb, Highly arched eyebrow, Dislocated radial head, Low posterior hairlin... |
OMIM:122470 |
| Central Hypoventilation Syndrome, Congenital, 1 |
|
Downslanted palpebral fissures, Aganglionic megacolon, Abnormal autonomic nervous system physiology |
OMIM:209880 |
| Rodrigues Blindness |
|
Fine hair, Sclerocornea, Sparse hair, Microcornea |
OMIM:268320 |
| Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Ptosis, Tremor |
OMIM:614831 |
| Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
| Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Redundant neck skin, Deep palmar crease, Proximal placement of thumb, Telecanthus, Clinodactyly o... |
OMIM:604314 |
| Developmental And Epileptic Encephalopathy 84 |
|
Short palpebral fissure, Synophrys, Ptosis, Dystonia, Opisthotonus, Epicanthus, Blepharophimosis |
OMIM:618792 |
| Congenital Disorder Of Glycosylation, Type 2V |
|
Astigmatism, Low posterior hairline, Ptosis, Downslanted palpebral fissures, Epicanthus, Narrow p... |
OMIM:619493 |
| Fragile X-Associated Tremor/Ataxia Syndrome |
|
Abnormal autonomic nervous system physiology, Intention tremor |
ORPHA:93256 |
| Schimke Immuno-Osseous Dysplasia |
|
Multiple lentigines, Hypermelanotic macule, Abnormal femoral head morphology, Corneal opacity, Hy... |
ORPHA:1830 |
| Congenital Myopathy With Myasthenic-Like Onset |
|
Ptosis, Scapular winging |
ORPHA:424107 |
| Syndromic Recessive X-Linked Ichthyosis |
|
Corneal opacity |
ORPHA:281090 |
| Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ptosis, Hand muscle atrophy, Intrinsic hand muscle atrophy |
OMIM:601462 |
| Wieacker-Wolff Syndrome, Female-Restricted |
|
Rocker bottom foot, Radial deviation of the hand, Facial palsy, Ptosis, Hip contracture, Talipes ... |
OMIM:301041 |
| Buerger Disease |
|
Skin ulcer |
ORPHA:36258 |
| Paroxysmal Hemicrania |
|
Ptosis, Palpebral edema, Conjunctival hyperemia |
ORPHA:157835 |
| Trisomy 17P |
|
High anterior hairline, Clinodactyly of the 5th finger, Broad eyebrow, Low posterior hairline, Pt... |
ORPHA:261290 |
| Trichinellosis |
|
Facial palsy, Anisocoria, Conjunctival hyperemia, Abnormal uvea morphology, Conjunctivitis |
ORPHA:863 |
| Mucopolysaccharidosis Type 4 |
|
Abnormal metaphysis morphology, Genu valgum, Corneal opacity, Bowing of the long bones, Abnormal ... |
ORPHA:582 |
| Intellectual Disability-Alacrima-Achalasia Syndrome |
|
Anisocoria |
ORPHA:289483 |
| Diabetes And Deafness, Maternally Inherited |
|
Ptosis |
OMIM:520000 |
| Nmda Receptor Encephalitis |
|
Orthostatic tachycardia, Orthostatic hypotension, Oculogyric crisis, Abnormal sudomotor regulatio... |
ORPHA:217253 |
| Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Ptosis, Polymicrogyria |
OMIM:618731 |
| Lymphedema-Distichiasis Syndrome |
|
Ectropion, Corneal erosion, Patent ductus arteriosus, Distichiasis, Ptosis, Conjunctivitis, Cataract |
ORPHA:33001 |
| Tangier Disease |
|
Ectropion, Nail dystrophy, Facial diplegia, Corneal opacity, Dry skin |
ORPHA:31150 |
| Pfeiffer Syndrome |
|
Clinodactyly of the 5th finger, Finger syndactyly, Synostosis of carpal bones, Broad thumb, Ptosi... |
ORPHA:710 |
| Craniotubular Dysplasia, Ikegawa Type |
|
Optic atrophy, Mydriasis, Diaphyseal dysplasia, Optic nerve compression, Optic neuropathy, Broad ... |
OMIM:619727 |
| Fallot Complex-Intellectual Disability-Growth Delay Syndrome |
|
Clubbing of fingers, Single transverse palmar crease, 2-3 toe syndactyly, Frontal hirsutism, Down... |
ORPHA:3304 |
| Arthrogryposis, Distal, Type 5D |
|
Limited elbow movement, Highly arched eyebrow, Elbow flexion contracture, Calcaneovalgus deformit... |
OMIM:615065 |
| Congenital Myopathy 6 With Ophthalmoplegia |
|
Ptosis |
OMIM:605637 |
| Mosaic Trisomy 8 |
|
Hypopigmented skin patches, Deep palmar crease, Clinodactyly of the 5th finger, Hypopigmentation ... |
ORPHA:96061 |
| Angelman Syndrome |
|
Optic atrophy, Astigmatism, Keratoconus, Tremor, Hypopigmentation of the skin, Ptosis, Iris hypop... |
ORPHA:72 |
| Oculoauricular Syndrome |
|
Microphakia, Ocular anterior segment dysgenesis, Iris coloboma, Iris cyst, Microcornea, Chorioret... |
OMIM:612109 |
| Multiple Pterygium Syndrome, Escobar Variant |
|
Rocker bottom foot, Bilateral ptosis, Dislocated radial head, Arachnodactyly, Syndactyly, Hip dis... |
OMIM:265000 |
| 3Mc Syndrome |
|
Abnormal anterior chamber morphology, Caudal appendage, Telecanthus, Highly arched eyebrow, Ptosi... |
ORPHA:293843 |
| Neuroocular Syndrome |
|
Small nail, Highly arched eyebrow, Stellate iris, Prominent fingertip pads, Nasolacrimal duct obs... |
OMIM:619539 |
| Jacobsen Syndrome |
|
Optic atrophy, Iris coloboma, Clinodactyly of the 5th finger, Telecanthus, Abnormal eyelash morph... |
OMIM:147791 |
| Fetal Hydantoin Syndrome |
|
Hypoplastic fingernail, Triphalangeal thumb, Low posterior hairline, Ptosis, Epicanthus, Short di... |
ORPHA:1912 |
| Alpha-Mannosidosis, Infantile Form |
|
Genu valgum, Astigmatism, Highly arched eyebrow, Bilateral coxa valga, Corneal opacity, Bilateral... |
ORPHA:309282 |
| Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome |
|
Abnormality of the hand, Clinodactyly of the 5th finger, Slanting of the palpebral fissure, Conge... |
ORPHA:476126 |
| Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Congenital bilateral ptosis, Clinodactyly of the 5th finger, Single transverse palmar crease, Low... |
ORPHA:73272 |
| Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Ptosis, Pallor |
OMIM:613561 |
| Acute Radiation Syndrome |
|
Scaling skin, Skin ulcer, Hyperpigmentation of the skin, Hypopigmentation of the skin, Cataract |
ORPHA:454831 |
| Gabriele-De Vries Syndrome |
|
Telecanthus, Sandal gap, Hallux valgus, Tremor, Epiblepharon, Ptosis, Downslanted palpebral fissu... |
OMIM:617557 |
| Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Ptosis, Facial palsy, Scapular winging |
ORPHA:353327 |
| Oculocerebrorenal Syndrome Of Lowe |
|
Abnormal metaphysis morphology, Skin ulcer, Genu valgum, Hip dislocation, Generalized hypopigment... |
ORPHA:534 |
| Reticular Dysgenesis |
|
Skin ulcer |
ORPHA:33355 |
| Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Short palpebral fissure, Short finger, Aplasia of the distal phalanx of the 5th toe, Clinodactyly... |
OMIM:608670 |
| Granular Corneal Dystrophy Type Ii |
|
Recurrent corneal erosions, Granular corneal dystrophy, Central opacification of the cornea, Sube... |
ORPHA:98963 |
| Dyrk1A-Related Intellectual Disability Syndrome |
|
Polydactyly, Breast hypoplasia, Astigmatism, Clinodactyly of the 5th finger, Acromesomelia, Corne... |
ORPHA:464306 |
| Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Ptosis |
ORPHA:3454 |
| Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Broad lateral eyebrow, Gray matter heterotopia, Long eyelashes, Ptosis, Epicanthus |
OMIM:608624 |
| Joubert Syndrome 35 |
|
Highly arched eyebrow, Ptosis, Telecanthus, Synophrys |
OMIM:618161 |
| Spinocerebellar Ataxia 28 |
|
Ptosis, Dystonia |
OMIM:610246 |
| Combined Oxidative Phosphorylation Deficiency 20 |
|
Ptosis |
OMIM:615917 |
| Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Genu valgum, Cubitus valgus, Telecanthus, Low posterior hairline, Ptosis, Downslanted palpebral f... |
ORPHA:1778 |
| Peroxisome Biogenesis Disorder 5A (Zellweger) |
|
Optic nerve dysplasia, Optic atrophy, Palpebral edema, Cubitus valgus, Talipes equinovarus, Small... |
OMIM:614866 |
| Weiss-Kruszka Syndrome |
|
Hypoplastic fingernail, Proximal placement of thumb, Clinodactyly of the 5th finger, Highly arche... |
OMIM:618619 |
| Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Ptosis, Downslanted palpebral fissures, Hip contracture, Epicanthus, Tapered finger |
OMIM:616801 |
| Mucopolysaccharidosis Type 7 |
|
Diaphyseal undertubulation, Abnormal hip bone morphology, Epiphyseal stippling, Corneal opacity, ... |
ORPHA:584 |
| Buratti-Harel Syndrome |
|
Clinodactyly of the 5th finger, Small nail, Broad thumb, Ptosis, Downslanted palpebral fissures, ... |
OMIM:619314 |
| Oculopharyngodistal Myopathy 4 |
|
Postural tremor, Ptosis, Tremor |
OMIM:619790 |
| Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Abnormality of the hand, Decreased sensory nerve conduction velocity, Ptosis, Abnormality of the ... |
ORPHA:298 |
| Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Bilateral ptosis, Hammertoe, Shoulder dislocation, Redundant skin, Low posterior hairline, Ptosis... |
OMIM:618000 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Cataract, Ptosis |
OMIM:615351 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Optic atrophy, Bilateral ptosis, Facial palsy, Intention tremor, Ptosis, Dystonia |
OMIM:258450 |
| 3Mc Syndrome 1 |
|
Abnormal anterior chamber morphology, Caudal appendage, Clinodactyly of the 5th finger, Telecanth... |
OMIM:257920 |
| Frontorhiny |
|
Iris coloboma, Camptodactyly of finger, Ptosis, Brachydactyly, Epicanthus, Cataract, Finger clino... |
ORPHA:391474 |
| Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome |
|
Broad eyebrow, Optic nerve hypoplasia, Corneal dystrophy, Hirsutism, Corneal opacity, Synophrys, ... |
ORPHA:495875 |
| Noonan Syndrome 8 |
|
Hyperpigmentation of the skin, Curly hair, Ptosis, Downslanted palpebral fissures, Epicanthus, Pa... |
OMIM:615355 |
| Ververi-Brady Syndrome |
|
Clinodactyly of the 5th finger, Intention tremor, Ptosis, Metaphyseal irregularity, Upslanted pal... |
OMIM:617982 |
| Myasthenic Syndrome, Congenital, 22 |
|
Ptosis |
OMIM:616224 |
| Trichohepatoneurodevelopmental Syndrome |
|
Ectropion, Astigmatism, Fibular bowing, Clinodactyly of the 5th finger, Talipes equinovarus, Thor... |
OMIM:618268 |
| Birk-Landau-Perez Syndrome |
|
Optic atrophy, Long eyelashes, Ptosis, Dystonia, Choreoathetosis, Upslanted palpebral fissure |
OMIM:617595 |
| Perlman Syndrome |
|
Bilateral single transverse palmar creases, Ptosis, Epicanthus |
ORPHA:2849 |
| Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Talipes equinovarus, Ptosis, Camptodactyly |
OMIM:618198 |
| Microphthalmia, Syndromic 16 |
|
Sclerocornea, Ankyloblepharon |
OMIM:611038 |
| Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Hypoplastic fingernail, Talipes equinovarus, Hyperconvex fingernails, Finger syndactyly, Onychogr... |
ORPHA:2215 |
| Tetrasomy 12P |
|
Ptosis, Sparse eyebrow, Upslanted palpebral fissure, Telecanthus |
ORPHA:884 |
| Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Camptodactyly, Ptosis, Downslanted palpebral fissures, Blepharophimosis, Talipes equinovarus |
OMIM:617333 |
| Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Nail dystrophy, Palmoplantar keratoderma, Hyperpigmentation of the skin, Alopecia, Hypopigmentati... |
ORPHA:79396 |
| Joubert Syndrome With Hepatic Defect |
|
Highly arched eyebrow, Tremor, Postaxial hand polydactyly, Ptosis, Chorioretinal coloboma, Optic ... |
ORPHA:1454 |
| Giant Cell Arteritis |
|
Optic atrophy, Ptosis, Skin ulcer, Alopecia |
ORPHA:397 |
| Brain Small Vessel Disease 1 With Or Without Ocular Anomalies |
|
Corneal neovascularization, Astigmatism, Polycoria, Microcornea, Corneal opacity, Limb dystonia, ... |
OMIM:175780 |
| Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Optic atrophy, Ptosis, Tremor |
ORPHA:137898 |
| Hypermobile Ehlers-Danlos Syndrome |
|
Decreased nerve conduction velocity, Abnormality of the wrist, Keratoconus, Abnormal autonomic ne... |
ORPHA:285 |
| Hyperkeratosis Lenticularis Perstans |
|
Skin ulcer |
ORPHA:409 |
| Kindler Epidermolysis Bullosa |
|
Ectropion, Short 4th metacarpal, Finger syndactyly, Corneal opacity, Abnormality of skin pigmenta... |
ORPHA:2908 |
| 6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Oculogyric crisis, Ptosis, Dystonia, Opisthotonus, Pallor, Choreoathetosis |
ORPHA:13 |
| Cockayne Syndrome B |
|
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Abnormal hair morphology,... |
OMIM:133540 |
| Joubert Syndrome 14 |
|
Optic atrophy, Highly arched eyebrow, Postaxial polydactyly, Ptosis, Downslanted palpebral fissur... |
OMIM:614424 |
| Frontotemporal Dementia With Motor Neuron Disease |
|
Abnormal upper motor neuron morphology, Ptosis, Abnormal lower motor neuron morphology |
ORPHA:275872 |
| Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Abnormal cortical gyration, Encephalocele, Polymicrogyria, Ptosis, Downslanted palpebral fissures... |
ORPHA:2211 |
| Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Astigmatism, Ptosis, Downsla... |
OMIM:618109 |
| Arachnoid Cyst |
|
Mydriasis, Encephalocele, Hydrocephalus, Facial palsy, Cranial nerve compression, Ptosis, Holopro... |
ORPHA:2356 |
| Cutis Marmorata Telangiectatica Congenita |
|
Purpura, Finger syndactyly, Abnormality of the upper limb, Multiple cafe-au-lait spots, Short low... |
ORPHA:1556 |
| Fanconi Anemia |
|
Irregular hyperpigmentation, Abnormal femur morphology, Abnormality of the upper limb, Hip disloc... |
ORPHA:84 |
| Yunis-Varon Syndrome |
|
Rocker bottom foot, Redundant neck skin, Abnormal finger morphology, Aplasia of the 1st metacarpa... |
ORPHA:3472 |
| Mucolipidosis Ii Alpha/Beta |
|
Palpebral edema, Short long bone, Hypopigmentation of the skin, Flat acetabular roof, Flared ilia... |
OMIM:252500 |
| Cutis Marmorata Telangiectatica Congenita |
|
Leukocoria |
OMIM:219250 |
| Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Nail dysplasia, Scaling skin, Nail dystrophy, Recurrent corneal erosions, Corneal neovascularizat... |
OMIM:308205 |
| Granular Corneal Dystrophy Type I |
|
Recurrent corneal erosions, Abnormal corneal epithelium morphology, Central opacification of the ... |
ORPHA:98962 |
| Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Single transverse palmar crease, 2-3 toe syndactyly, Microcornea, Ptosis, Downslanted palpebral f... |
OMIM:616449 |
| Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Ptosis, Scapular winging, Shoulder girdle muscle weakness |
OMIM:608423 |
| Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Short palpebral fissure, Highly arched eyebrow, Hypoplastic fifth toenail, Sparse scalp hair, Lon... |
OMIM:615866 |
| Cryoglobulinemic Vasculitis |
|
Petechiae, Purpura, Skin ulcer, Keratoconjunctivitis sicca |
ORPHA:91138 |
| Witteveen-Kolk Syndrome |
|
Radial deviation of finger, Proximal placement of thumb, Shallow orbits, Arachnodactyly, Hypercon... |
OMIM:613406 |
| Basal Ganglia Disease, Biotin-Thiamine Responsive |
|
Truncal titubation, Facial palsy, Craniofacial dystonia, Action tremor, Ptosis, Dystonia, Opistho... |
OMIM:607483 |
| Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Microcornea, Ptosis, Epicanthus inversus, Narrow palpebral fi... |
OMIM:110100 |
| Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Genu valgum, Flared metaphysis, Delayed epiphyseal ossification, Short long bone, Dislocation of ... |
OMIM:616007 |
| Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Bilateral ptosis, Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar... |
OMIM:614701 |
| Congenital Disorder Of Glycosylation, Type Iio |
|
Ptosis, Downslanted palpebral fissures |
OMIM:616828 |
| Mucopolysaccharidosis, Type Vi |
|
Genu valgum, Hypoplastic iliac wing, Hypoplastic acetabulae, Hirsutism, Split hand, Corneal opaci... |
OMIM:253200 |
| Neuroleptic Malignant Syndrome |
|
Tremor, Abnormal autonomic nervous system physiology, Oculogyric crisis |
ORPHA:94093 |
| Revesz Syndrome |
|
Nail dystrophy, Megalocornea, Nail pits, Ridged fingernail, Sparse hair, Leukocoria, Fine hair, F... |
OMIM:268130 |
| Wolf-Hirschhorn Syndrome |
|
Hyperconvex fingernails, Highly arched eyebrow, Short hallux, Single transverse palmar crease, Sp... |
OMIM:194190 |
| Sifrim-Hitz-Weiss Syndrome |
|
Short palpebral fissure, Astigmatism, Short clavicles, Flat acetabular roof, Ptosis, Short femora... |
OMIM:617159 |
| Classical-Like Ehlers-Danlos Syndrome Type 2 |
|
Bilateral ptosis, Astigmatism, Hammertoe, Sandal gap, Hallux valgus, Redundant skin, Shoulder dis... |
ORPHA:536532 |
| Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Genu valgum, Sandal gap, Myopic astigmatism, Absent phalangeal crease, Recurrent shoulder disloca... |
ORPHA:230851 |
| Infantile Systemic Hyalinosis |
|
Skin ulcer, Hyperpigmentation of the skin, Micromelia, Camptodactyly of finger, Short palm, Brach... |
ORPHA:2176 |
| Robinow-Sorauf Syndrome |
|
Bilateral ptosis, Shallow orbits, Broad thumb, Downslanted palpebral fissures, Broad hallux, Hall... |
OMIM:180750 |
| Blau Syndrome |
|
Skin ulcer, Hyperpigmentation of the skin, Abnormal cranial nerve morphology, Facial palsy, Dry s... |
ORPHA:90340 |
| Robinow Syndrome, Autosomal Recessive 1 |
|
Nail dysplasia, Radial deviation of finger, Mesomelic arm shortening, Small nail, Dislocated radi... |
OMIM:268310 |
| Carey-Fineman-Ziter Syndrome |
|
Aplasia of the pectoralis major muscle, Facial palsy, Ptosis, Downslanted palpebral fissures, Epi... |
ORPHA:1358 |
| Renal Nutcracker Syndrome |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology |
ORPHA:71273 |
| Fetal Trimethadione Syndrome |
|
Ptosis, Epicanthus, Synophrys |
ORPHA:1913 |
| Livedoid Vasculopathy |
|
Skin ulcer, Hyperpigmentation of the skin, Abnormality of the peripheral nervous system, Macular ... |
ORPHA:542643 |
| Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Short palpebral fissure, Redundant neck skin, Proximal placement of thumb, Telecanthus, Ptosis, C... |
OMIM:217980 |
| Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome |
|
Bilateral ptosis, Clinodactyly of the 5th finger, Tapered toe, Small nail, Absent eyelashes, Tape... |
ORPHA:544488 |
| Multiple Sulfatase Deficiency |
|
Broad thumb, Corneal opacity, Broad hallux |
OMIM:272200 |
| Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Ptosis, Proximal muscle weakness in upper limbs, Scapular winging |
OMIM:619733 |
| Sanjad-Sakati Syndrome |
|
Astigmatism, Corneal opacity, Short foot, Small hand |
ORPHA:2323 |
| Immunodeficiency 114, Folate-Responsive |
|
Skin ulcer |
OMIM:620603 |
| Loeys-Dietz Syndrome 4 |
|
Torticollis, Cutis laxa, Ptosis, Downslanted palpebral fissures, Arachnodactyly, Ectopia lentis, ... |
OMIM:614816 |
| Autosomal Recessive Multiple Pterygium Syndrome |
|
Popliteal pterygium, Axillary pterygium, Multiple pterygia, Telecanthus, Pterygium, Finger syndac... |
ORPHA:2990 |
| Hadziselimovic Syndrome |
|
Ptosis, Epicanthus |
OMIM:612946 |
| Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Ptosis |
OMIM:618225 |
| Encephalocraniocutaneous Lipomatosis |
|
Linear hyperpigmentation, Hypoplasia of the iris, Sclerocornea, Eyelid coloboma, Limbal dermoid, ... |
OMIM:613001 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
|
Mydriasis |
OMIM:619365 |
| Xp22.3 Microdeletion Syndrome |
|
Opacification of the corneal stroma |
ORPHA:1643 |
| Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Ptosis, Facial palsy |
OMIM:616323 |
| Cardiofaciocutaneous Syndrome 1 |
|
Optic nerve dysplasia, Multiple lentigines, Deep palmar crease, Cubitus valgus, Clinodactyly of t... |
OMIM:115150 |
| Hypotonia-Cystinuria Syndrome |
|
Ptosis, Facial palsy, Long eyelashes |
OMIM:606407 |
| 20Q11.2 Microduplication Syndrome |
|
Limited elbow extension, Palpebral edema, Deep palmar crease, Clinodactyly of the 5th finger, Lin... |
ORPHA:363659 |
| Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Limited elbow extension, Carpal bone hypoplasia, Small epiphyses, Femoral bowing, Short metacarpa... |
OMIM:616723 |
| Teebi-Shaltout Syndrome |
|
Rocker bottom foot, Caudal appendage, Telecanthus, Highly arched eyebrow, Slow-growing hair, Sing... |
OMIM:272950 |
| Oculo-Palato-Cerebral Syndrome |
|
Aplasia/Hypoplasia of the nails, Leukocoria, Cataract, Short foot, Small hand |
ORPHA:2714 |
| Joubert Syndrome 7 |
|
Postaxial polydactyly, Ptosis, Genu valgum, Postaxial hand polydactyly |
OMIM:611560 |
| Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction |
|
Ectopia pupillae, Epicanthus, Patent ductus arteriosus |
OMIM:618223 |
| Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Aganglionic megacolon, Ptosis, Downslanted palpebral fissures, Epicanthus, Narrow palpebral fissu... |
OMIM:613603 |
| Wiedemann-Rautenstrauch Syndrome |
|
Corneal opacity, Action tremor, Short humerus, Aplasia/Hypoplasia of the nails, Sparse hair, Long... |
ORPHA:3455 |
| Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Ptosis, Optic disc pallor |
ORPHA:363429 |
| Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation |
|
Astigmatism, Corneal opacity, Short foot, Short toe, Flexion contracture of finger, Tapered finge... |
ORPHA:464311 |
| Mitochondrial Dna Depletion Syndrome 11 |
|
Ptosis, Facial palsy |
OMIM:615084 |
| Adnp Syndrome |
|
Polydactyly, Bilateral ptosis, High anterior hairline, Astigmatism, Sandal gap, Slanting of the p... |
ORPHA:404448 |
| King-Denborough Syndrome |
|
Bilateral ptosis, Downslanted palpebral fissures, Ptosis |
OMIM:619542 |
| Congenital Myopathy 19 |
|
Ptosis |
OMIM:618578 |
| Van Maldergem Syndrome 2 |
|
Short palpebral fissure, High anterior hairline, Short 4th metacarpal, Hip subluxation, Short cla... |
OMIM:615546 |
| Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Ptosis, Facial diplegia, Dystonia, Athetosis |
OMIM:612073 |
| Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Ptosis, Amyotrophic lateral sclerosis |
OMIM:615911 |
| Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Abnormal hip bone morphology, Finger syndactyly, Synostosis of carpal bones, Low posterior hairli... |
ORPHA:1323 |
| Lacrimoauriculodentodigital Syndrome |
|
Nail dysplasia, Recurrent corneal erosions, Corneal neovascularization, Hypoplasia of the lacrima... |
ORPHA:2363 |
| Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome |
|
Short palpebral fissure, Abnormality of the hand, Clinodactyly of the 5th finger, Optic nerve hyp... |
ORPHA:508498 |
| Shashi-Pena Syndrome |
|
Deep palmar crease, Highly arched eyebrow, Short metacarpal, Synophrys, Long eyelashes, Ptosis, E... |
OMIM:617190 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Ptosis, Tremor, Dystonia, Oculogyric crisis |
ORPHA:35708 |
| Mucolipidosis Type Iii Alpha/Beta |
|
Corneal opacity, Epicanthus |
ORPHA:423461 |
| Congenital Myopathy 1B, Autosomal Recessive |
|
Ptosis, Facial palsy |
OMIM:255320 |
| Macular Corneal Dystrophy |
|
Recurrent corneal erosions, Decreased corneal thickness, Punctate opacification of the cornea, Hy... |
ORPHA:98969 |
| Autosomal Dominant Cutis Laxa |
|
Redundant neck skin, Premature skin wrinkling, Redundant skin, Corneal opacity, Cutis laxa, Ptosi... |
ORPHA:90348 |
| Kbg Syndrome |
|
Radial deviation of finger, Clinodactyly of the 5th finger, Telecanthus, Single transverse palmar... |
OMIM:148050 |
| Superficial Siderosis |
|
Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve plexus, Dysgyria, A... |
ORPHA:247245 |
| Joubert Syndrome 1 |
|
Highly arched eyebrow, Postaxial hand polydactyly, Ptosis, Postaxial foot polydactyly, Chorioreti... |
OMIM:213300 |
| Xia-Gibbs Syndrome |
|
Ptosis, Downslanted palpebral fissures, Upslanted palpebral fissure, Simplified gyral pattern |
OMIM:615829 |
| Ohdo Syndrome |
|
Clinodactyly of the 5th finger, Ptosis, Sparse eyebrow, Epicanthus, Blepharophimosis |
OMIM:249620 |
| Gomez-Lopez-Hernandez Syndrome |
|
Opacification of the corneal stroma, Downslanted palpebral fissures, Alopecia |
OMIM:601853 |
| Reynolds Syndrome |
|
Irregular hyperpigmentation, Skin ulcer, Keratoconjunctivitis sicca |
ORPHA:779 |
| Schwartz-Jampel Syndrome |
|
Flexion contracture of toe, Wrist flexion contracture, Abnormal eyebrow morphology, Abnormal epip... |
ORPHA:800 |
| Houge-Janssens Syndrome 1 |
|
Hydrocephalus, Ptosis, Downslanted palpebral fissures |
OMIM:616355 |
| Autosomal Recessive Ataxia Due To Pex10 Deficiency |
|
Mydriasis |
ORPHA:247815 |
| Lathosterolosis |
|
Microcornea, Postaxial hand polydactyly, Ptosis, Downslanted palpebral fissures, Epicanthus, Cata... |
ORPHA:46059 |
| Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Ptosis, Facial diplegia, Facial paralysis |
OMIM:613559 |
| Leishmaniasis |
|
Pallor, Skin ulcer |
ORPHA:507 |
| Orthostatic Hypotension 1 |
|
Ptosis, Orthostatic hypotension, Brachydactyly |
OMIM:223360 |
| Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
| Aase-Smith Syndrome I |
|
Hydrocephalus, Ptosis |
OMIM:147800 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
High anterior hairline, Highly arched eyebrow, Optic nerve hypoplasia, Slow-growing hair, Low pos... |
OMIM:617506 |
| Ohdo Syndrome, X-Linked |
|
High anterior hairline, Hip dysplasia, Cafe-au-lait spot, Ptosis, Downslanted palpebral fissures,... |
OMIM:300895 |
| Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Supernumerary nipple, Talipes equinovarus, Highly arched eyebrow, Hyperextensibility of the finge... |
OMIM:213980 |
| Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Sandal gap, Postaxial hand polydactyly, Postaxial polydactyly, Downslanted... |
OMIM:174300 |
| Noonan Syndrome 10 |
|
Cubitus valgus, Hyperpigmentation of the skin, Curly hair, Cafe-au-lait spot, Ptosis, Downslanted... |
OMIM:616564 |
| Cervical Hypertrichosis-Peripheral Neuropathy Syndrome |
|
Skin ulcer, Generalized hirsutism |
ORPHA:2218 |
| Coach Syndrome 1 |
|
Ptosis, Dystonia, Postaxial hand polydactyly, Optic disc pallor |
OMIM:216360 |
| Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Torticollis, Oculogyric crisis, Athetosis, Blepharospasm, Limb dystonia, Exaggerated startle resp... |
OMIM:608643 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1 |
|
Optic atrophy, Optic nerve hypoplasia, Corneal opacity, Megalocornea, Cataract, Buphthalmos, Pete... |
OMIM:236670 |
| Scheie Syndrome |
|
Genu valgum, Corneal opacity |
OMIM:607016 |
| Osteopetrosis, Autosomal Recessive 5 |
|
Optic atrophy, Stillbirth, Mydriasis, Hip subluxation, Flared metaphysis, Facial palsy, Optic dis... |
OMIM:259720 |
| Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Chorioretinal coloboma, Ptosis, Blepharophimosis, Meningocele |
ORPHA:2031 |
| Neurofibromatosis Type 1 |
|
Hypopigmented skin patches, Inguinal freckling, Genu valgum, Abnormal hip bone morphology, Slende... |
ORPHA:636 |
| Fryns Syndrome |
|
Rocker bottom foot, Stillbirth, Aganglionic megacolon, Proximal placement of thumb, Facial hirsut... |
OMIM:229850 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Ptosis, Shoulder girdle muscle weakness |
OMIM:615156 |
| 9Q21.13 Microdeletion Syndrome |
|
Long palpebral fissure, Ptosis, Gray matter heterotopia |
ORPHA:531151 |
| Cockayne Syndrome A |
|
Optic atrophy, Square pelvis bone, Decreased nerve conduction velocity, Hypoplastic iliac wing, T... |
OMIM:216400 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Bilateral ptosis, Ptosis |
OMIM:616479 |
| Wiedemann-Steiner Syndrome |
|
Short palpebral fissure, Abnormality of the hand, Rhizomelia, Clinodactyly of the 5th finger, Tel... |
ORPHA:319182 |
| Takayasu Arteritis |
|
Skin ulcer |
ORPHA:3287 |
| Pyogenic Sterile Arthritis, Pyoderma Gangrenosum, And Acne |
|
Elbow flexion contracture, Pyoderma gangrenosum |
OMIM:604416 |
| Carey-Fineman-Ziter Syndrome 1 |
|
Pectoralis hypoplasia, Facial palsy, Ptosis, Downslanted palpebral fissures, Lagophthalmos, Epica... |
OMIM:254940 |
| Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Popliteal pterygium, Tarsal synostosis, Multiple pterygia, Elbow flexion contracture, Camptodacty... |
OMIM:178110 |
| Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous |
|
Corneal pterygium, Recurrent loss of toenails and fingernails, Nail dystrophy, Skin ulcer, Symble... |
OMIM:245660 |
| Congenital Myopathy 22A, Classic |
|
Bilateral ptosis, Scapular winging, Congenital finger flexion contractures, Synophrys, Ptosis, Do... |
OMIM:620351 |
| Combined Immunodeficiency Due To Dock8 Deficiency |
|
Skin ulcer |
ORPHA:217390 |
| Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Ptosis, Dystonia, Choreoathetosis |
OMIM:618451 |
| Typical Nemaline Myopathy |
|
Genu valgum, Facial diplegia, Facial palsy, Ptosis, Genu varum, Hip dislocation |
ORPHA:171436 |
| Mosaic Variegated Aneuploidy Syndrome |
|
Clinodactyly of the 5th finger, Abnormality of the upper limb, Corneal opacity, Multiple cafe-au-... |
ORPHA:1052 |
| Roberts-Sc Phocomelia Syndrome |
|
Radial deviation of finger, Corneal opacity, Wrist flexion contracture, Shallow orbits, Short hum... |
OMIM:268300 |
| Joubert Syndrome 37 |
|
Postaxial polydactyly, Ptosis, Sparse hair |
OMIM:619185 |
| Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Broad eyebrow, Microcornea, Ptosis, Downslanted palpebral fissures, Abnorm... |
OMIM:235730 |
| Phace Syndrome |
|
Abnormality of the orbital region, Optic nerve hypoplasia, Heterochromia iridis, Ptosis, Scleroco... |
ORPHA:42775 |
| Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome |
|
Optic atrophy, Bilateral ptosis, Corneal neovascularization, Tarsal sclerosis, Sclerosis of finge... |
ORPHA:404454 |
| Helsmoortel-Van Der Aa Syndrome |
|
Bilateral ptosis, Sandal gap, Prominent fingertip pads, Short lower limbs, Ectropion of lower eye... |
OMIM:615873 |
| Myasthenic Syndrome, Congenital, 14 |
|
Ptosis, Scapular winging |
OMIM:616228 |
| Scarf Syndrome |
|
Hypoplastic nipples, Low posterior hairline, Cutis laxa, Ptosis, Downslanted palpebral fissures, ... |
ORPHA:3134 |
| Dominant Beta-Thalassemia |
|
Skin ulcer, Genu valgum, Hyperpigmentation of the skin, Bowing of the long bones, Pallor, Upslant... |
ORPHA:231226 |
| Mucoepithelial Dysplasia, Hereditary |
|
Nail dysplasia, Nail dystrophy, Corneal neovascularization, Chronic monilial nail infection, Kera... |
OMIM:158310 |
| Schimke Immunoosseous Dysplasia |
|
Lateral displacement of the femoral head, Hypermelanotic macule, Astigmatism, Talipes equinovarus... |
OMIM:242900 |
| Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency |
|
Dystrophic fingernails, Skin ulcer, Abnormal hair morphology, Skin vesicle, Paronychia |
ORPHA:2314 |
| Peters Plus Syndrome |
|
Optic atrophy, Short palpebral fissure, Rhizomelia, Clinodactyly of the 5th finger, Microcornea, ... |
ORPHA:709 |
| Beta-Thalassemia |
|
Pallor, Skin ulcer |
ORPHA:848 |
| Sunct Syndrome |
|
Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:57145 |
| Mucolipidosis Iii Gamma |
|
Genu valgum, Claw hand deformity, Flat capital femoral epiphysis, Shoulder contracture, Finger jo... |
OMIM:252605 |
| Immunodeficiency, Common Variable, 12, With Autoimmunity |
|
Pyoderma gangrenosum, Alopecia |
OMIM:616576 |
| 14Q22Q23 Microdeletion Syndrome |
|
Bilateral single transverse palmar creases, Short 4th metacarpal, Clinodactyly of the 5th finger,... |
ORPHA:264200 |
| Mesomelia-Synostoses Syndrome |
|
Carpometacarpal synostosis, Short metatarsal, Telecanthus, Metacarpal synostosis, Distal femoral ... |
OMIM:600383 |
| Arthrogryposis, Distal, Type 12 |
|
Clinodactyly of the 5th finger, Tapered distal phalanges of finger, Congenital finger flexion con... |
OMIM:620545 |
| Orofaciodigital Syndrome Xvi |
|
Ptosis, Gray matter heterotopia, Short palpebral fissure |
OMIM:617563 |
| Autosomal Recessive Robinow Syndrome |
|
Bilateral single transverse palmar creases, Abnormal hip bone morphology, Sandal gap, Broad thumb... |
ORPHA:1507 |
| Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Bilateral ptosis, Highly arched eyebrow, Septo-optic dysplasia, Sparse hair, Cone-shaped epiphysi... |
OMIM:619841 |
| Mucolipidosis Iii Alpha/Beta |
|
Carpal bone hypoplasia, Short long bone, Split hand, Hyperopic astigmatism, Irregular carpal bone... |
OMIM:252600 |
| Mucopolysaccharidosis, Type Iva |
|
Genu valgum, Pointed proximal second through fifth metacarpals, Metaphyseal widening, Large elbow... |
OMIM:253000 |
| Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Short palpebral fissure, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microcornea, Tapered... |
OMIM:616734 |
| Juvenile Glaucoma |
|
Abnormal anterior chamber morphology, Temporal optic disc pallor, Abnormality iris morphology, Op... |
ORPHA:98977 |
| Spondyloepiphyseal Dysplasia, Maroteaux Type |
|
Short palm, Genu valgum, Opacification of the corneal stroma, Short femoral neck |
OMIM:184095 |
| Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Oculogyric crisis, Tremor, Limb dystonia, Ptosis, Dystonia |
ORPHA:352649 |
| Yunis-Varon Syndrome |
|
Bilateral single transverse palmar creases, Redundant neck skin, Flat acetabular roof, Aplasia/Hy... |
OMIM:216340 |
| Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Hypoplastic fingernail, Hyperconvex fingernails, Ptosis, Skin vesicle, Alopecia |
ORPHA:257 |
| Pseudo-Torch Syndrome 1 |
|
Petechiae, Opacification of the corneal stroma, Dystonia, Cataract |
OMIM:251290 |
| Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Highly arched eyebrow, Iris atrophy, Arachnodactyly, Syndactyly, Ectopia pupillae, Adducted thumb... |
ORPHA:261552 |
| Fabry Disease |
|
Optic atrophy, Abnormal femur morphology, Cornea verticillata, Corneal dystrophy, Corneal opacity... |
ORPHA:324 |
| Neurofaciodigitorenal Syndrome |
|
Triphalangeal thumb, Abnormal metacarpal morphology, Corneal dystrophy, Abnormal distal phalanx m... |
ORPHA:2673 |
| Atypical Werner Syndrome |
|
Premature graying of hair, Rocker bottom foot, Skin ulcer, Osteolytic defects of the phalanges of... |
ORPHA:79474 |
| Cerebrooculonasal Syndrome |
|
Optic nerve hypoplasia, Postaxial hand polydactyly, Sparse eyelashes, Ptosis, Sparse eyebrow, Pos... |
OMIM:605627 |
| Dubowitz Syndrome |
|
Short palpebral fissure, Clinodactyly of the 5th finger, Telecanthus, Single transverse palmar cr... |
OMIM:223370 |
| Coach Syndrome 3 |
|
Ptosis |
OMIM:619113 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Ptosis |
OMIM:618098 |
| Developmental And Epileptic Encephalopathy 110 |
|
Ptosis, Small hand |
OMIM:620149 |
| Nephronophthisis 11 |
|
Anisocoria |
OMIM:613550 |
| Corneal Endothelial Dystrophy |
|
Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat... |
OMIM:217700 |
| Pierson Syndrome |
|
Posterior lenticonus, Hypoplasia of the ciliary body, Microcoria, Hypoplasia of the iris, Rieger ... |
OMIM:609049 |
| Lymphedema-Distichiasis Syndrome |
|
Recurrent corneal erosions, Ectropion, Patent ductus arteriosus, Corneal ulceration, Distichiasis... |
OMIM:153400 |
| Spondyloepiphyseal Dysplasia Tarda, X-Linked |
|
Irregular epiphyses, Hypoplastic iliac wing, Coxa vara, Hypoplasia of the capital femoral epiphys... |
OMIM:313400 |
| Cystinosis |
|
Corneal opacity |
ORPHA:213 |
| Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Ptosis, Dystonia, Upslanted palpebral fissure |
OMIM:617854 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Limited elbow extension, Genu valgum, Myopic astigmatism, Broad long bone diaphyses, Hypopigmenta... |
OMIM:301066 |
| Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Hydrocephalus, Ptosis, Downslanted palpebral fissures, Epicanthus, Patent ductus arteriosus |
OMIM:104350 |
| Encephalocraniocutaneous Lipomatosis |
|
Iris coloboma, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Corneal opaci... |
ORPHA:2396 |
| Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Skin ulcer, Corneal opacity, Ptosis, Papilledema, Ecchymosis, Hallux valgus |
ORPHA:2072 |
| Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Acetabular dysplasia, Ptosis, Low posterior hairline |
OMIM:616549 |
| Fish-Eye Disease |
|
Corneal opacity |
ORPHA:79292 |
| Spastic Ataxia 5, Autosomal Recessive |
|
Ptosis, Dystonia |
OMIM:614487 |
| Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Ectropion, S-shaped palpebral fissures, Abnormal lacrimal duct morphology, Lacrimal gland aplasia... |
ORPHA:572333 |
| Joubert Syndrome 8 |
|
Ptosis, Occipital encephalocele, Optic disc pallor |
OMIM:612291 |
| Chromosome 16P13.3 Duplication Syndrome |
|
Rocker bottom foot, Proximal placement of hallux, Proximal placement of thumb, Sandal gap, Hip di... |
OMIM:613458 |
| Microphthalmia With Linear Skin Defects Syndrome |
|
Hypopigmented skin patches, Hyperpigmentation of the skin, Abnormality of the nail, Abnormal naso... |
ORPHA:2556 |
| Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Short palpebral fissure, Astigmatism, Sandal gap, Hirsutism, Synophrys, Ptosis, Downslanted palpe... |
OMIM:616078 |
| Marden-Walker Syndrome |
|
Camptodactyly, Ptosis, Arachnodactyly, Epicanthus, Radioulnar synostosis, Blepharophimosis, Talip... |
OMIM:248700 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Ptosis, Epicanthus, Upslanted palpe... |
OMIM:300260 |
| Distal Deletion 3P |
|
Abnormal vestibulo-ocular reflex, Clinodactyly of the 5th finger, Telecanthus, Postaxial hand pol... |
ORPHA:1620 |
| Histiocytoid Cardiomyopathy |
|
Optic atrophy, Corneal opacity, Congenital aphakia, Megalocornea, Pallor |
ORPHA:137675 |
| Arboleda-Tham Syndrome |
|
Sandal gap, Highly arched eyebrow, Upper limb amyotrophy, Genu varum, Optic atrophy, Astigmatism,... |
OMIM:616268 |
| Acute Transverse Myelitis |
|
Orthostatic hypotension, Abnormal autonomic nervous system physiology, Autonomic bladder dysfunction |
ORPHA:139417 |
| Holoprosencephaly 4 |
|
Semilobar holoprosencephaly, Ptosis |
OMIM:142946 |
| Wolfram Syndrome |
|
Optic atrophy, Abnormal autonomic nervous system physiology |
ORPHA:3463 |
| Refsum Disease, Classic |
|
Cataract, Ptosis, Short fourth metatarsal |
OMIM:266500 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Resting tremor, Facial palsy, Ptosis, Cataract, Hand tremor |
OMIM:157640 |
| Choreoacanthocytosis |
|
Oromandibular dystonia, Resting tremor, Blepharospasm, Abnormal autonomic nervous system physiolo... |
ORPHA:2388 |
| Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Limited elbow extension, Redundant neck skin, Hypoplastic fingernail, Small nail, ... |
OMIM:123790 |
| Van Maldergem Syndrome 1 |
|
Short palpebral fissure, Gray matter heterotopia, Ptosis, Simplified gyral pattern, Epicanthus, P... |
OMIM:601390 |
| Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Contracture of the proximal interphalangeal joint of the 5th finger, Clinodactyly of the 5th fing... |
OMIM:280000 |
| Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Multiple lentigines, Loose anagen hair, Deep palmar crease, Cubitus valgus, Astigmatism, Hyperpig... |
OMIM:607721 |
| Mucopolysaccharidosis, Type Ii |
|
Split hand, Ptosis, Papilledema, Abnormality of retinal pigmentation, Hypertrichosis |
OMIM:309900 |
| Polyarteritis Nodosa |
|
Skin ulcer, Erythema |
ORPHA:767 |
| Jacobsen Syndrome |
|
Ectropion, Finger syndactyly, Microcornea, Cataract, Toe clinodactyly, Ptosis, Downslanted palpeb... |
ORPHA:2308 |
| Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Optic atrophy, Abnormal number of hair whorls, Redundant neck skin, Radial deviation of finger, T... |
OMIM:618164 |
| Rutherfurd Syndrome |
|
Opacification of the corneal stroma, Corneal dystrophy |
OMIM:180900 |
| Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Ptosis, Intention tremor |
OMIM:618170 |
| Mungan Syndrome |
|
Bilateral ptosis, Abnormality of the autonomic nervous system |
OMIM:611376 |
| Combined Oxidative Phosphorylation Deficiency 58 |
|
Optic atrophy, Ptosis, Exaggerated startle response, Epicanthus |
OMIM:620451 |
| Dermochondrocorneal Dystrophy |
|
Abnormality of the hand, Corneal dystrophy, Subepithelial corneal opacities, Irregular tarsal oss... |
OMIM:221800 |
| Autoimmune Polyendocrinopathy Type 1 |
|
Hypopigmented skin patches, Abnormal fingernail morphology, Cataract, Opacification of the cornea... |
ORPHA:3453 |
| Autosomal Dominant Robinow Syndrome |
|
Coxa valga, Hip dislocation, Micromelia, Short palm, Downslanted palpebral fissures, Ridged finge... |
ORPHA:3107 |
| Lcat Deficiency |
|
Corneal opacity |
ORPHA:650 |
| Fucosidosis |
|
Abnormality of the nail, Corneal opacity |
ORPHA:349 |
| Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Optic atrophy, Palmoplantar cutis gyrata, Abnormality of the nail, Ptosis, Downslanted palpebral ... |
ORPHA:1555 |
| Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Ptosis, Dystonia |
ORPHA:313772 |
| Norrie Disease |
|
Optic atrophy, Abnormal chorioretinal morphology, Aplasia/Hypoplasia of the lens, Corneal opacity... |
ORPHA:649 |
| Aymé-Gripp Syndrome |
|
Rocker bottom foot, Bilateral ptosis, Breast hypoplasia, Clinodactyly of the 5th finger, Sparse s... |
ORPHA:1272 |
| Codas Syndrome |
|
Genu valgum, Proximal placement of thumb, Squared iliac bones, Delayed ossification of carpal bon... |
OMIM:600373 |
| Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Optic atrophy, Proximal placement of thumb, Highly arched eyebrow, Tapered finger, Camptodactyly,... |
ORPHA:487796 |
| Cohen-Gibson Syndrome |
|
Thin nail, Small nail, Flared metaphysis, Hypoplastic iliac wing, Camptodactyly, Broad thumb, Pto... |
OMIM:617561 |
| Limb Body Wall Complex |
|
Aplasia/hypoplasia involving bones of the upper limbs, Aplasia of the proximal phalanges of the h... |
ORPHA:2369 |
| Meckel Syndrome |
|
Optic atrophy, Abnormal chorioretinal morphology, Microcornea, Postaxial hand polydactyly, Bowing... |
ORPHA:564 |
| Congenital Myopathy 5 With Cardiomyopathy |
|
Ptosis |
OMIM:611705 |
| Fraser Syndrome 1 |
|
Upper eyelid coloboma, Small nail, Aplasia/Hypoplasia of the thumb, Absent eyelashes, Corneal opa... |
OMIM:219000 |
| X-Linked Mandibulofacial Dysostosis |
|
Ptosis, Downslanted palpebral fissures, Epicanthus, Aplasia/Hypoplasia of the eyebrow |
ORPHA:1131 |
| Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Contracture of the proximal interphalangeal joint of the 4th finger, Telecanthus, Ptosis, Epicant... |
OMIM:618050 |
| Neuropathy, Hereditary Sensory, With Spastic Paraplegia, Autosomal Recessive |
|
Decreased motor nerve conduction velocity, Decreased amplitude of sensory action potentials, Acra... |
OMIM:256840 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Ptosis, Optic disc pallor |
OMIM:615838 |
| Beta-Thalassemia Major |
|
Skin ulcer, Genu valgum, Hyperpigmentation of the skin, Bowing of the long bones, Pallor, Upslant... |
ORPHA:231214 |
| Scarf Syndrome |
|
Hypoplastic nipples, Low posterior hairline, Cutis laxa, Ptosis, Downslanted palpebral fissures, ... |
OMIM:312830 |
| Craniosynostosis 6 |
|
Ptosis, Spina bifida occulta |
OMIM:616602 |
| Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Ptosis, Tremor, Facial palsy |
OMIM:619424 |
| Brown-Vialetto-Van Laere Syndrome 1 |
|
Ptosis, Cranial nerve motor loss, Facial palsy, Hand muscle atrophy |
OMIM:211530 |
| Lathosterolosis |
|
2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Talipes equinovarus, Postaxial hand p... |
OMIM:607330 |
| Tukel Syndrome |
|
Postaxial oligodactyly, Carpal bone aplasia, Ptosis, Syndactyly, Congenital fibrosis of extraocul... |
OMIM:609428 |
| Short Stature, Impaired Intellectual Development, Microcephaly, Hypotonia, And Ocular Anomalies |
|
Bilateral ptosis, Hip subluxation, Bilateral camptodactyly, Prominent fingertip pads, Synophrys, ... |
OMIM:619557 |
| Lateral Meningocele Syndrome |
|
Meningocele, Ptosis, Downslanted palpebral fissures, Epicanthus, Iris coloboma |
ORPHA:2789 |
| Hutchinson-Gilford Progeria Syndrome |
|
Hypermelanotic macule, Dystrophic fingernails, Loss of eyelashes, Premature skin wrinkling, Corne... |
ORPHA:740 |
| Chronic Mucocutaneous Candidiasis |
|
Skin ulcer, Abnormality of the nail, Broad nail, Abnormal fingernail morphology, Abnormal toenail... |
ORPHA:1334 |
| Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Pectoral muscle hypoplasia/aplasia, Cataract, Sparse eyelashes, Ptosis, Sparse eyebrow, Camptodac... |
ORPHA:306542 |
| Holoprosencephaly |
|
Optic atrophy, Highly arched eyebrow, Synophrys, Ptosis, Hand polydactyly, Dystonia, Thick eyebro... |
ORPHA:2162 |
| Cardiac Valvular Dysplasia, X-Linked |
|
Cutis laxa, Ptosis |
OMIM:314400 |
| Spinocerebellar Ataxia Type 36 |
|
Ptosis, Intention tremor, Hand tremor, Head tremor |
ORPHA:276198 |
| Cerebral Creatine Deficiency Syndrome 1 |
|
Ptosis, Aganglionic megacolon, Dystonia |
OMIM:300352 |
| Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Ptosis, Facial diplegia |
ORPHA:521411 |
| Botulism |
|
Mydriasis |
ORPHA:1267 |
| Smooth Muscle Dysfunction Syndrome |
|
Dysgyria, Mydriasis, Patent ductus arteriosus |
OMIM:613834 |
| Rhyns Syndrome |
|
Short long bone, Ptosis, Radial bowing, Brachydactyly, Short femoral neck |
OMIM:602152 |
| Synaptic Congenital Myasthenic Syndromes |
|
Bilateral ptosis, Scapular winging, Facial palsy, Hand muscle weakness, Ptosis, Limited wrist ext... |
ORPHA:98915 |
| Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Short palpebral fissure, Redundant neck skin, Astigmatism, Cubitus valgus, Short metatarsal, Shor... |
OMIM:617157 |
| Myopathy, Myofibrillar, 8 |
|
Ptosis, Scapular winging, Joint contracture of the 5th finger |
OMIM:617258 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Cataract, Ptosis |
OMIM:609286 |
| Dworschak-Punetha Neurodevelopmental Syndrome |
|
Sparse lateral eyebrow, Ptosis |
OMIM:619955 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Optic atrophy, Short palpebral fissure, Small nail, Tapered finger, Short foot, Low posterior hai... |
OMIM:309590 |
| Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Clinodactyly of the 5th finger, Oligodactyly, Ptosis, Upslanted palpebral fissure, Short foot |
OMIM:619758 |
| Emanuel Syndrome |
|
Astigmatism, Hooded eyelid, Hydrocephalus, Ptosis, Patent ductus arteriosus, Upslanted palpebral ... |
ORPHA:96170 |
| Noonan Syndrome 2 |
|
Hypermelanotic macule, Redundant neck skin, Cubitus valgus, Telecanthus, Hyperpigmentation of the... |
OMIM:605275 |
| Wilson Disease |
|
Abnormality of the hand, Kayser-Fleischer ring |
ORPHA:905 |
| Mucopolysaccharidosis Type 2, Severe Form |
|
Optic atrophy, Diaphyseal undertubulation, Corneal opacity, Camptodactyly of finger, Papilledema,... |
ORPHA:217085 |
| Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Polydactyly, Telecanthus, Sparse lateral eyebrow, Ptosis, Downslanted palpebral fissures |
ORPHA:314655 |
| Acromelic Frontonasal Dysplasia |
|
Patellar hypoplasia, Telecanthus, Ptosis, Aplasia/Hypoplasia of the tibia, Abnormal toenail morph... |
ORPHA:1827 |
| Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Ptosis, Facial diplegia, Facial palsy, Shoulder girdle muscle weakness |
ORPHA:98905 |
| Leigh Syndrome |
|
Optic atrophy, Athetosis, Frontal hirsutism, Ptosis, Dystonia, Cataract, Choreoathetosis, Hypertr... |
ORPHA:506 |
| Rubinstein-Taybi Syndrome 1 |
|
Broad distal phalanx of finger, Highly arched eyebrow, Dislocated radial head, Hypoplastic iliac ... |
OMIM:180849 |
| Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Astigmatism, Joint contracture of the 5th finger, 2-3 toe syndactyly, Narrow palm, Ptosis, Broad ... |
OMIM:619934 |
| Amoebiasis Due To Free-Living Amoebae |
|
Skin ulcer, Corneal ulceration, Facial palsy, Conjunctival hyperemia, Corneal perforation |
ORPHA:68 |
| Phelan-Mcdermid Syndrome |
|
Palpebral edema, Clinodactyly of the 5th finger, Toenail dysplasia, 2-3 toe syndactyly, Long eyel... |
OMIM:606232 |
| Combined Oxidative Phosphorylation Deficiency 24 |
|
Optic atrophy, Ptosis |
OMIM:616239 |
| Mucopolysaccharidosis Type 2, Attenuated Form |
|
Optic atrophy, Diaphyseal undertubulation, Corneal opacity, Camptodactyly of finger, Papilledema,... |
ORPHA:217093 |
| Axenfeld-Rieger Syndrome, Type 2 |
|
Opacification of the corneal stroma, Microcornea, Telecanthus, Anterior chamber synechiae |
OMIM:601499 |
| Papa Syndrome |
|
Skin ulcer |
ORPHA:69126 |
| 3Mc Syndrome 2 |
|
Limited elbow movement, Caudal appendage, Torticollis, Highly arched eyebrow, Ptosis, Downslanted... |
OMIM:265050 |
| Toxic Epidermal Necrolysis |
|
Skin ulcer, Entropion, Corneal erosion, Conjunctivitis, Erythema |
ORPHA:537 |
| Adult Polyglucosan Body Disease |
|
Skin ulcer |
ORPHA:206583 |
| Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Short clavicles, Recurrent shoulder dislocation, Finger joint contracture, Ptosis, Down-sloping s... |
OMIM:212112 |
| Polyvalvular Heart Disease Syndrome |
|
Ptosis |
ORPHA:228410 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Osteolytic defects of the phalanges of the hand, Redundant skin, Clubbing, Ptosis, Palmoplantar h... |
OMIM:259100 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Talipes equinovarus, Hyperextensibility of the finger joints, Single transverse palmar crease, Sy... |
OMIM:309583 |
| Autosomal Recessive Spastic Paraplegia Type 77 |
|
Paroxysmal dystonia, Intention tremor, Ptosis, Dystonia, Hip dysplasia |
ORPHA:466722 |
| Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Limited elbow extension, Slender long bone, Single transverse palmar crease, Camptodactyly, Ptosi... |
OMIM:613385 |
| Vascular Ehlers-Danlos Syndrome |
|
Excessive wrinkled skin, Telecanthus, Keratoconus, Abnormal eyelash morphology, Abnormality of ha... |
ORPHA:286 |
| Osteogenesis Imperfecta |
|
Abnormal metaphysis morphology, Diaphyseal undertubulation, Genu valgum, Abnormal tibia morpholog... |
ORPHA:666 |
| Pituitary Apoplexy |
|
Ptosis, Mydriasis |
ORPHA:95613 |
| Congenital Myopathy 17 |
|
Overlapping fingers, Telecanthus, Tapered finger, Ptosis, Downslanted palpebral fissures, Hand cl... |
OMIM:618975 |
| Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Excessive wrinkled skin, Keratoconus, Microcornea, Congenital hip dislocation, Ptosis, Downslante... |
OMIM:225400 |
| Ayme-Gripp Syndrome |
|
Nail dystrophy, Broad eyebrow, Sparse scalp hair, Camptodactyly, Ptosis, Downslanted palpebral fi... |
OMIM:601088 |
| Short Stature And Facioauriculothoracic Malformations |
|
Ptosis |
OMIM:609654 |
| 22Q11.2 Duplication Syndrome |
|
Ptosis, Downslanted palpebral fissures, Epicanthus |
ORPHA:1727 |
| Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ptosis |
ORPHA:352447 |
| Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development |
|
Opacification of the corneal stroma |
OMIM:204850 |
| Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Genu valgum, Telecanthus, Dislocated radial head, Camptodactyly, Shallow orbits, Metatarsus adduc... |
OMIM:182212 |
| Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Ptosis, Short clavicles, Short 4th metacarpal |
OMIM:606220 |
| Oculoectodermal Syndrome |
|
Astigmatism, Hyperpigmentation of the skin, Microcornea, Chorioretinal atrophy, Opacification of ... |
OMIM:600268 |
| Pontine Tegmental Cap Dysplasia |
|
Ptosis, Head titubation, Facial palsy |
OMIM:614688 |
| Granulomatosis With Polyangiitis |
|
Skin ulcer, Keratitis, Uveitis, Conjunctivitis |
OMIM:608710 |
| Menke-Hennekam Syndrome 1 |
|
Short palpebral fissure, Clinodactyly of the 5th finger, Telecanthus, Sandal gap, Hip dysplasia, ... |
OMIM:618332 |
| Combined Oxidative Phosphorylation Defect Type 7 |
|
Optic atrophy, Ptosis, Facial diplegia |
ORPHA:254930 |
| Cree Mental Retardation Syndrome |
|
Rocker bottom foot, Ptosis, Downslanted palpebral fissures, Cutaneous finger syndactyly |
OMIM:606851 |
| Gabriele-De Vries Syndrome |
|
Breast hypoplasia, Frontal upsweep of hair, Astigmatism, Telecanthus, Sandal gap, Hallux valgus, ... |
ORPHA:506358 |
| Monosomy 13Q14 |
|
Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Ptosis, Brach... |
ORPHA:1587 |
| Myhre Syndrome |
|
Abnormal metaphysis morphology, Short palpebral fissure, Large iliac wing, Abnormal pubic bone mo... |
ORPHA:2588 |
| Primary Sjögren Syndrome |
|
Purpura, Skin ulcer, Abnormality of the peripheral nervous system, Dry skin, Vitiligo, Corneal pe... |
ORPHA:289390 |
| Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Abnormal autonomic nervous system physiology, Brachydactyly |
ORPHA:293987 |
| Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Ptosis, Facial palsy |
OMIM:617143 |
| Pgm3-Cdg |
|
Narrow palpebral fissure, Skin ulcer, Brachydactyly |
ORPHA:443811 |
| Cornelia De Lange Syndrome |
|
Bilateral single transverse palmar creases, Proximal placement of thumb, Highly arched eyebrow, O... |
ORPHA:199 |
| Systemic Sclerosis |
|
Irregular hyperpigmentation, Nail bed telangiectasia, Osteolytic defects of the phalanges of the ... |
ORPHA:90291 |
| Pyoderma Gangrenosum |
|
Skin vesicle, Skin ulcer |
ORPHA:48104 |
| Microscopic Polyangiitis |
|
Skin ulcer, Erythema, Uveitis |
ORPHA:727 |
| Juvenile Dermatomyositis |
|
Palpebral edema, Skin ulcer, Dry skin, Erythema, Alopecia |
ORPHA:93672 |
| Tyshchenko Syndrome |
|
Ptosis, Low anterior hairline, Thick hair, Supernumerary nipple |
OMIM:615102 |
| Fetal Alcohol Syndrome |
|
Ptosis, Telecanthus, Epicanthus |
ORPHA:1915 |
| Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Proximal phalangeal periosteal thickening, Osteolytic defects of the phalanges of the hand, Metat... |
OMIM:161700 |
| Acromelic Frontonasal Dysostosis |
|
Patellar hypoplasia, Telecanthus, Optic nerve hypoplasia, Ptosis, Downslanted palpebral fissures,... |
OMIM:603671 |
| Palatal Anomalies-Widely Spaced Teeth-Facial Dysmorphism-Developmental Delay Syndrome |
|
Bilateral ptosis, High anterior hairline, Clinodactyly of the 5th finger, Sparse scalp hair, Syno... |
ORPHA:477993 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Ptosis |
OMIM:619046 |
| Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Synophrys, Ptosis, Downslanted palpebral f... |
OMIM:616728 |
| Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Subcapsular cataract, Ptosis, Shoulder girdle muscle weakness, Alopecia |
ORPHA:98907 |
| Mucopolysaccharidosis Type 6 |
|
Abnormal metaphysis morphology, Opacification of the corneal stroma, Genu valgum, Epiphyseal dysp... |
ORPHA:583 |
| Myasthenia Gravis |
|
Ptosis, Facial palsy |
OMIM:254200 |
| Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Fibular hypoplasia, Hip subluxation, Facial hirsutism, Thick hair, Highly arched eyebrow, Catarac... |
ORPHA:444077 |
| Lateral Meningocele Syndrome |
|
Telecanthus, Meningocele, Hydrocephalus, Ptosis, Downslanted palpebral fissures, Patent ductus ar... |
OMIM:130720 |
| Mucopolysaccharidosis Type 2 |
|
Optic atrophy, Decreased nerve conduction velocity, Corneal opacity, Papilledema, Abnormality of ... |
ORPHA:580 |
| Diffuse Cutaneous Systemic Sclerosis |
|
Skin ulcer, Narrow foramen obturatorium |
ORPHA:220393 |
| Cranioectodermal Dysplasia 2 |
|
Polydactyly, Rhizomelia, Telecanthus, Postaxial hand polydactyly, Sparse eyelashes, Cutis laxa, S... |
OMIM:613610 |
| Williams Syndrome |
|
Genu valgum, Clinodactyly of the 5th finger, Redundant skin, Tremor, Aplasia/Hypoplasia of the ir... |
ORPHA:904 |
| Anterior Segment Dysgenesis 1 |
|
Ocular anterior segment dysgenesis, Microcornea, Posterior polar cataract, Opacification of the c... |
OMIM:107250 |
| Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Ptosis |
OMIM:277320 |
| Koolen-De Vries Syndrome Due To A Point Mutation |
|
Optic atrophy, Short palpebral fissure, Prominent fingertip pads, Hypopigmentation of the skin, C... |
ORPHA:363965 |
| 17Q21.31 Microdeletion Syndrome |
|
Optic atrophy, Short palpebral fissure, Prominent fingertip pads, Hypopigmentation of the skin, C... |
ORPHA:363958 |
| Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Ptosis |
ORPHA:2522 |
| Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome |
|
Sclerocornea, Iris coloboma |
ORPHA:77298 |
| Squamous Cell Carcinoma Of The Anal Canal |
|
Skin ulcer |
ORPHA:424019 |
| Au-Kline Syndrome |
|
Deep palmar crease, Clinodactyly of the 5th finger, Shallow orbits, Sparse lateral eyebrow, Ptosi... |
OMIM:616580 |
| Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
|
Pyoderma gangrenosum |
OMIM:150550 |
| 22Q11.2 Deletion Syndrome |
|
Optic atrophy, Hypopigmented skin patches, Purpura, Aganglionic megacolon, Corneal neovasculariza... |
ORPHA:567 |
| Autosomal Dominant Progressive External Ophthalmoplegia |
|
Resting tremor, Facial diplegia, Facial palsy, Tremor, Ptosis, Cataract, Shoulder girdle muscle w... |
ORPHA:254892 |
| Pachydermoperiostosis |
|
Abnormal hair quantity, Abnormal epiphysis morphology, Ptosis, Abnormal fingernail morphology, Ab... |
ORPHA:2796 |
| Immunoglobulin A Vasculitis |
|
Optic atrophy, Purpura, Skin ulcer, Erythema |
ORPHA:761 |
| Microphthalmia, Syndromic 2 |
|
2-3 toe cutaneous syndactyly, Hammertoe, Sandal gap, Contracture of the proximal interphalangeal ... |
OMIM:300166 |
| Genitourinary And/Or Brain Malformation Syndrome |
|
Short palpebral fissure, Astigmatism, Polymicrogyria, Gray matter heterotopia, Ptosis, Holoprosen... |
OMIM:618820 |
| Linear Skin Defects With Multiple Congenital Anomalies 3 |
|
Lacrimal duct atresia, Hyperpigmented streaks, Sclerocornea |
OMIM:300952 |
| Acquired Purpura Fulminans |
|
Macular purpura, Pyoderma gangrenosum |
ORPHA:49566 |
| Retinoblastoma |
|
Heterochromia iridis, Uveitis, Hypopyon, Leukocoria |
ORPHA:790 |
| Saethre-Chotzen Syndrome |
|
Clinodactyly of the 5th finger, Buphthalmos, Absent first metatarsal, Abnormal nasolacrimal syste... |
OMIM:101400 |
| Hunter-Macdonald Syndrome |
|
Short palpebral fissure, Cubitus valgus, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Camp... |
OMIM:611962 |
| Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum |
|
Trichiasis, Nail dystrophy, Skin ulcer, Corneal erosion, Hyperpigmentation of the skin, Hypopigme... |
ORPHA:95455 |
| Costello Syndrome |
|
Limited elbow movement, Redundant neck skin, Deep palmar crease, Thin nail, Talipes equinovarus, ... |
OMIM:218040 |
| Okur-Chung Neurodevelopmental Syndrome |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Single transverse palmar crease, Synophrys... |
OMIM:617062 |
| Loeys-Dietz Syndrome 5 |
|
Increased arm span, Flexion contracture of toe, Bilateral coxa valga, Scapular winging, Congenita... |
OMIM:615582 |
| Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type) |
|
Recurrent corneal erosions, Acral ulceration, Corneal ulceration, Autoamputation of digits, Corne... |
OMIM:256810 |
| Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Ptosis, Pigmentary retinopathy, Mottled pigmentation of photoexposed areas |
OMIM:560000 |
| Myasthenic Syndrome, Congenital, 19 |
|
Ptosis, Facial palsy |
OMIM:616720 |
| Pudendal Neuralgia |
|
Allodynia |
ORPHA:60039 |
| Anterior Cutaneous Nerve Entrapment Syndrome |
|
Allodynia |
ORPHA:51890 |
| Dermatomyositis |
|
Facial erythema, Skin ulcer, V-sign, Abnormality of the nail, Abnormal hair quantity, Abnormal ey... |
ORPHA:221 |
| Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Optic atrophy, Ptosis, Pigmentary retinopathy |
ORPHA:436271 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ptosis |
OMIM:613077 |
| Diamond-Blackfan Anemia |
|
Abnormality of the thenar eminence, Triphalangeal thumb, Developmental glaucoma, Abnormality of t... |
ORPHA:124 |
| Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects |
|
Highly arched eyebrow, Hirsutism, Tapered finger, Short foot, Camptodactyly, Synophrys, Downslant... |
OMIM:301044 |
| Wiskott-Aldrich Syndrome |
|
Purpura, Skin ulcer, Petechiae, Blepharitis, Keratitis, Conjunctivitis |
ORPHA:906 |
| Wilson Disease |
|
Sunflower cataract, Decreased nerve conduction velocity, Kayser-Fleischer ring, Tremor, Limb dyst... |
OMIM:277900 |
| X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Ptosis, Eversion of lateral third of lower eyelids |
ORPHA:364028 |
| Cushing Disease |
|
Purpura, Skin ulcer, Optic nerve compression, Hyperpigmentation of the skin, Hirsutism, Sparse sc... |
ORPHA:96253 |
| Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Cubitus valgus, Highly arched eyebrow, Low posterior hairline, Cafe-au-lait spot, Ptosis, Downsla... |
OMIM:613563 |
| Branchiooculofacial Syndrome |
|
Premature graying of hair, Iris coloboma, Hypoplastic fingernail, Supernumerary nipple, Telecanth... |
OMIM:113620 |
| Calciphylaxis |
|
Skin ulcer |
ORPHA:280062 |
| Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Finger syndactyly, Generalized hypopigmentation, Multiple cafe-au-lait spots, Ptosis, Abnormality... |
ORPHA:1969 |
| Linear Skin Defects With Multiple Congenital Anomalies 1 |
|
Single transverse palmar crease, Sclerocornea, Cataract, Peters anomaly, Pigmentary retinopathy, ... |
OMIM:309801 |
| X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Elbow flexion contractur... |
ORPHA:98863 |
| Insulin-Like Growth Factor I Deficiency |
|
Ptosis, Clinodactyly of the 5th finger |
OMIM:608747 |
| Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Elbow flexion contractur... |
ORPHA:261 |
| Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Proximal upper limb amyotrophy, Proximal muscle weakness in upper limbs, Elbow flexion contractur... |
ORPHA:98853 |
| Cdags Syndrome |
|
Ectropion, Short clavicles, Sparse scalp hair, Sparse eyelashes, Ptosis, Sparse eyebrow |
OMIM:603116 |
| Beta-Thalassemia Intermedia |
|
Pallor, Skin ulcer |
ORPHA:231222 |
| Fusariosis |
|
Paronychia, Keratitis, Skin ulcer |
ORPHA:228119 |
| Beck-Fahrner Syndrome |
|
Ptosis, Lacrimal duct stenosis |
OMIM:618798 |
| Coffin-Siris Syndrome 1 |
|
Sandal gap, Dislocated radial head, Prominent fingertip pads, Prominent interphalangeal joints, L... |
OMIM:135900 |
| Kosaki Overgrowth Syndrome |
|
Xanthelasma, Downslanted palpebral fissures, Ptosis |
OMIM:616592 |
| Trichorhinophalangeal Syndrome, Type Ii |
|
Alopecia of scalp, Astigmatism, Clinodactyly of the 5th finger, Hip subluxation, Cone-shaped epip... |
OMIM:150230 |
| Ring Chromosome 7 Syndrome |
|
Bilateral ptosis, Genu valgum, Clinodactyly of the 5th finger, Hyperpigmented nevi, Highly arched... |
ORPHA:1449 |
| Smith-Lemli-Opitz Syndrome |
|
2-3 toe cutaneous syndactyly, Aganglionic megacolon, Hip subluxation, Proximal placement of thumb... |
OMIM:270400 |
| Shprintzen-Goldberg Syndrome |
|
Abnormal metaphysis morphology, Genu valgum, Telecanthus, Bowing of the long bones, Ptosis, Downs... |
ORPHA:2462 |
| Combined Oxidative Phosphorylation Deficiency 33 |
|
Ptosis, Astigmatism |
OMIM:617713 |
| Kabuki Syndrome |
|
Highly arched eyebrow, Microcornea, Long eyelashes, Sparse lateral eyebrow, Ptosis, Short middle ... |
ORPHA:2322 |
| Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Broad thumb, Ptosis, Hyperextensibility of the finger joints, Arachnodactyly |
OMIM:309520 |
| Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Astigmatism, Clinodactyly of the 5th finger, Ptosis, Downslanted palpebral fissures, Thick eyebro... |
ORPHA:369950 |
| Autosomal Dominant Severe Congenital Neutropenia |
|
Pyoderma gangrenosum |
ORPHA:486 |
| Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Optic atrophy, Ptosis, Pigmentary retinopathy |
OMIM:220110 |
| Neurofibromatosis-Noonan Syndrome |
|
Inguinal freckling, Cubitus valgus, Multiple cafe-au-lait spots, Low posterior hairline, Ptosis, ... |
OMIM:601321 |
| Charge Syndrome |
|
Optic atrophy, Polydactyly, Abnormal tibia morphology, Clinodactyly of the 5th finger, Abnormal c... |
ORPHA:138 |
| Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Ptosis, Facial palsy |
OMIM:610131 |
| Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Optic atrophy, Ptosis |
OMIM:609037 |
| Vici Syndrome |
|
Hypopigmentation of hair, Hypopigmentation of the skin, Ptosis, Developmental cataract, Epicanthu... |
OMIM:242840 |
| Coffin-Siris Syndrome |
|
Small nail, Hypoplastic fifth toenail, Hirsutism, Sparse scalp hair, Ptosis, Thick eyebrow, Low a... |
ORPHA:1465 |
| Degcags Syndrome |
|
Premature graying of hair, Hypopigmentation of the skin, Low posterior hairline, Abnormal eyebrow... |
OMIM:619488 |
| Fetal Akinesia Deformation Sequence 1 |
|
Rocker bottom foot, Stillbirth, Short palpebral fissure, Telecanthus, Slender long bone, Ulnar de... |
OMIM:208150 |
| Doors Syndrome |
|
Optic atrophy, Bilateral ptosis, Aplasia/Hypoplasia of the phalanges of the 2nd toe, Sirenomelia,... |
ORPHA:79500 |
| Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Cataract, Ptosis |
ORPHA:70595 |
| Neuropathy, Hereditary Sensory And Autonomic, Type V |
|
Hand tremor, Acral ulceration |
OMIM:608654 |
| Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome |
|
Optic atrophy, Purpura, Skin ulcer |
OMIM:615688 |
| Microphthalmia, Syndromic 3 |
|
Cataract, Optic nerve hypoplasia, Optic nerve aplasia, Sclerocornea |
OMIM:206900 |
| Chronic Granulomatous Disease |
|
Hypermelanotic macule, Skin ulcer |
ORPHA:379 |
| Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Ptosis |
OMIM:251900 |
| 17Q24.2 Microdeletion Syndrome |
|
Abnormality of the wrist, Cubitus valgus, Upper limb undergrowth, Synophrys, Broad thumb, Ptosis,... |
ORPHA:529962 |
| Chronic Graft Versus Host Disease |
|
Recurrent corneal erosions, Nail dystrophy, Skin ulcer, Erythema, Abnormality of skin pigmentatio... |
ORPHA:99921 |
| Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
| Oculogastrointestinal Muscular Dystrophy |
|
Ptosis |
ORPHA:1876 |
| Disabling Pansclerotic Morphea Of Childhood |
|
Skin ulcer |
OMIM:620443 |
| Noonan Syndrome |
|
Clinodactyly of the 5th finger, Abnormal hair quantity, Low posterior hairline, Ptosis, Downslant... |
ORPHA:648 |
| Congenital Myasthenic Syndrome |
|
Frontalis muscle weakness, Ptosis, Congenital hip dislocation |
ORPHA:590 |
| Presynaptic Congenital Myasthenic Syndromes |
|
Frontalis muscle weakness, Ptosis, Congenital hip dislocation |
ORPHA:98914 |
| Galactosialidosis |
|
Conjunctival telangiectasia, Opacification of the corneal stroma |
OMIM:256540 |
| Autosomal Dominant Centronuclear Myopathy |
|
Ptosis, Proximal muscle weakness in upper limbs |
ORPHA:169189 |
| Parkes Weber Syndrome |
|
Scaling skin, Skin ulcer, Abnormality of the upper limb, Abnormal femoral metaphysis morphology, ... |
ORPHA:90307 |
| Spinocerebellar Ataxia 36 |
|
Ptosis |
OMIM:614153 |
| Microphthalmia, Syndromic 6 |
|
Polydactyly, Abnormality of the hand, Clinodactyly of the 5th finger, Finger syndactyly, Orbital ... |
OMIM:607932 |
| Apolipoprotein A-I Deficiency |
|
Xanthelasma, Opacification of the corneal stroma |
ORPHA:425 |
| Autosomal Recessive Ataxia, Beauce Type |
|
Arm dystonia, Ptosis |
ORPHA:88644 |
| Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Ptosis, Astigmatism, Hooded upper eyelid, Telecanthus |
OMIM:618548 |
| Subcutaneous Panniculitis-Like T-Cell Lymphoma |
|
Skin ulcer |
ORPHA:86884 |
| Catastrophic Antiphospholipid Syndrome |
|
Skin ulcer |
ORPHA:464343 |
| Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Ptosis, Short palm, Brachydactyly |
ORPHA:3217 |
| Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ragged-red muscle fibers, Distal amyotrophy, Allodynia |
OMIM:603041 |
| Coffin-Siris Syndrome 4 |
|
Short phalanx of the 5th toe, Sparse scalp hair, Long eyelashes, Ptosis, Prominent interphalangea... |
OMIM:614609 |
| Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2 |
|
Mydriasis, Patent ductus arteriosus |
OMIM:619351 |
| Hereditary Spherocytosis |
|
Pallor, Skin ulcer |
ORPHA:822 |
| Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome |
|
Opacification of the corneal stroma |
OMIM:215250 |
| Proteus Syndrome |
|
Irregular hyperpigmentation, Macrodactyly, Abnormal finger morphology, Upper limb asymmetry, Gene... |
ORPHA:744 |
| Six2-Related Frontonasal Dysplasia |
|
Ptosis, Epicanthus inversus |
ORPHA:488437 |
| Noonan Syndrome With Multiple Lentigines |
|
Multiple lentigines, Excessive wrinkled skin, Scapular winging, Ptosis, Melanocytic nevus, Freckling |
ORPHA:500 |
| Reni Syndrome |
|
Ptosis, Hyperpigmentation of the skin |
OMIM:617575 |
| Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal forearm bone morphology, Splayed toes, ... |
ORPHA:99413 |
| Mosaic Monosomy X |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal forearm bone morphology, Splayed toes, ... |
ORPHA:99228 |
| Monosomy X |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal forearm bone morphology, Splayed toes, ... |
ORPHA:99226 |
| Retinoblastoma |
|
Leukocoria |
OMIM:180200 |
| Turner Syndrome |
|
Hyperconvex fingernails, Low posterior hairline, Abnormal forearm bone morphology, Splayed toes, ... |
ORPHA:881 |
| Oculopharyngodistal Myopathy 1 |
|
Ptosis, Bilateral ptosis, Tremor, Facial palsy |
OMIM:164310 |
| Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Ptosis, Blepharophimosis |
ORPHA:2728 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Shallow orbits, Long palpebral fissure, Ptosis, Postaxial polydactyly, Hi... |
ORPHA:453504 |
| Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Shallow orbits, Long palpebral fissure, Ptosis, Postaxial polydactyly, Hi... |
ORPHA:352665 |
| Meige Disease |
|
Skin ulcer |
ORPHA:90186 |
| Congenital Myopathy 13 |
|
Short palpebral fissure, Telecanthus, Ptosis, Downslanted palpebral fissures, Blepharophimosis |
OMIM:255995 |
| Peters-Plus Syndrome |
|
Limited elbow movement, Square pelvis bone, Proximal placement of thumb, Short metacarpal, Syndac... |
OMIM:261540 |
| Meckel Syndrome, Type 1 |
|
Radial deviation of finger, Postaxial hand polydactyly, Bowing of the long bones, Foot polydactyl... |
OMIM:249000 |
| Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Periosteal thickening of long tubular bones, Clubbing of fingers |
OMIM:167100 |
| Microphthalmia, Syndromic 1 |
|
Radial deviation of finger, Aganglionic megacolon, Ciliary body coloboma, Iris coloboma, Short cl... |
OMIM:309800 |
| Arima Syndrome |
|
Optic atrophy, Postaxial hand polydactyly, Ptosis, Chorioretinal coloboma, Postaxial foot polydac... |
OMIM:243910 |
| Isolated Complex I Deficiency |
|
Ptosis, Optic disc pallor, Optic neuropathy |
ORPHA:2609 |
| Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Polydactyly, Ptosis, Short humerus, Dystonia, Short femur, Choreoathetosis |
ORPHA:17 |
| Specc1L-Related Hypertelorism Syndrome |
|
Clinodactyly of the 5th finger, Highly arched eyebrow, Finger syndactyly, Ptosis, Downslanted pal... |
ORPHA:1519 |
| Neutrophilic Dermatosis, Acute Febrile |
|
Erythema, Pyoderma gangrenosum |
OMIM:608068 |
| Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Ptosis, Clinodactyly, Camptodactyly |
ORPHA:228426 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Ptosis |
OMIM:615453 |
| Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Polydactyly, Trichiasis, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx ... |
ORPHA:353284 |
| Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Polydactyly, Trichiasis, Widened distal phalanges, Deviation of the hallux, Broad distal phalanx ... |
ORPHA:353277 |
| Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Cataract, Ptosis, Retinal pigment epithelial mottling, Scapular winging |
OMIM:607459 |
| Gaucher Disease |
|
Abnormality of skin pigmentation, Tremor, Corneal opacity |
ORPHA:355 |
| Sweet Syndrome |
|
Skin vesicle, Abnormality of the hand, Pyoderma gangrenosum |
ORPHA:3243 |
| Treacher Collins Syndrome 1 |
|
Upper eyelid coloboma, Ptosis, Downslanted palpebral fissures, Lower eyelid coloboma, Sparse lowe... |
OMIM:154500 |
| Plague |
|
Mydriasis, Skin ulcer, Dry skin, Conjunctival hyperemia, Abnormality of the elbow |
ORPHA:707 |
| Familial Keratoacanthoma |
|
Skin ulcer |
ORPHA:493 |
| Non-Functioning Pituitary Adenoma |
|
Ptosis, Pallor, Abnormal hair quantity |
ORPHA:91349 |
| Okamoto Syndrome |
|
Polydactyly, Redundant neck skin, Astigmatism, Long palpebral fissure, Ptosis, Extension of hair ... |
ORPHA:2729 |
| Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis |
OMIM:159400 |
| Scorpion Envenomation |
|
Mydriasis, Purpura, Tremor, Erythema |
ORPHA:466677 |
| Loeys-Dietz Syndrome 1 |
|
Postaxial hand polydactyly, Camptodactyly, Postaxial polydactyly, Ptosis, Downslanted palpebral f... |
OMIM:609192 |
| Faciocardiomelic Syndrome |
|
Polydactyly, Telecanthus, Slender long bone, Hypoplastic pelvis, Ptosis, Short eyelashes |
OMIM:612731 |
| Noonan Syndrome 1 |
|
Radial deviation of finger, Cubitus valgus, Dry skin, Woolly hair, Low posterior hairline, Cafe-a... |
OMIM:163950 |
| Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Corneal ulceration, Ptosis, Abnormality of retinal pigmentation, Tali... |
ORPHA:14 |
| Kearns-Sayre Syndrome |
|
Ptosis |
OMIM:530000 |
| Kallmann Syndrome |
|
Ptosis, Breast hypoplasia, Tremor |
ORPHA:478 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3 |
|
Optic atrophy, Buphthalmos, Megalocornea, Cataract, Opacification of the corneal stroma, Pallor |
OMIM:253280 |
| Acrofacial Dysostosis, Cincinnati Type |
|
Clinodactyly of the 5th finger, Upper eyelid coloboma, Pterygium, Flared lower limb metaphysis, S... |
OMIM:616462 |
| Malignant Atrophic Papulosis |
|
Cataract, Ptosis |
ORPHA:679 |
| Cocaine Intoxication |
|
Mydriasis, Tremor |
ORPHA:90068 |
| Combined Oxidative Phosphorylation Deficiency 12 |
|
Ptosis, Dystonia |
OMIM:614924 |
| Kabuki Syndrome 1 |
|
Bilateral ptosis, Highly arched eyebrow, Hirsutism, Prominent fingertip pads, Congenital hip disl... |
OMIM:147920 |
| Aicardi-Goutières Syndrome |
|
Developmental glaucoma, Tremor, Dry skin, Ptosis, Dystonia, Eyelid coloboma |
ORPHA:51 |
| Monosomy 22Q13.3 |
|
Palpebral edema, Clinodactyly of the 5th finger, Long eyelashes, Ptosis, Large hands, Thick eyebr... |
ORPHA:48652 |
| Pallister-Killian Syndrome |
|
Hypopigmentation of the skin, Upslanted palpebral fissure, Sparse hair, Hip dislocation, Rhizomel... |
OMIM:601803 |
| Prolactinoma |
|
Ptosis, Pallor, Abnormal hair quantity |
ORPHA:2965 |
| Noonan Syndrome 3 |
|
Ptosis, Downslanted palpebral fissures, Epicanthus, Patent ductus arteriosus |
OMIM:609942 |
| Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Optic atrophy, Radial deviation of finger, Genu valgum, Tapered finger, Slender finger, Ptosis, E... |
OMIM:309580 |
| Joubert Syndrome 21 |
|
Optic atrophy, Occipital encephalocele, Megalopapilla, Encephalocele, Ptosis |
OMIM:615636 |
| Marden-Walker Syndrome |
|
Short palpebral fissure, Metatarsus adductus, Ptosis, Arachnodactyly, Camptodactyly of finger, Ra... |
ORPHA:2461 |
| Holoprosencephaly 9 |
|
Abnormal cortical gyration, Alobar holoprosencephaly, Hydrocephalus, Optic nerve hypoplasia, Ptos... |
OMIM:610829 |
| Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Ptosis, Upslanted palpebral fissure, Optic disc pallor, Optic neuropathy |
OMIM:252010 |
| Kawasaki Disease |
|
Abnormality of nail color, Palmar edema, Conjunctival hyperemia, Palmoplantar erythema, Ptosis, S... |
ORPHA:2331 |
| Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Ptosis, Downslanted palpebral fissures, Epicanthus, Sparse hair |
OMIM:300661 |
| Pallister-Hall Syndrome |
|
Nail dysplasia, Short 4th metacarpal, Bilateral postaxial polydactyly, Polydactyly affecting the ... |
ORPHA:672 |
| Hereditary Sensory And Autonomic Neuropathy Type 4 |
|
Abnormal hip bone morphology, Corneal ulceration, Dry skin, Corneal scarring, Abnormality of the ... |
ORPHA:642 |
| Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Highly arched eyebrow, Ptosis, Patent ductus arteriosus |
ORPHA:2282 |
| Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Aganglionic megacolon, Genu valgum, Broad eyebrow, Telecanthus, Astigmatism, Hallux valgus, Axenf... |
ORPHA:261537 |
| Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Ptosis, Pseudopapilledema |
OMIM:146255 |
| Leopard Syndrome 1 |
|
Limited elbow movement, Multiple lentigines, Cubitus valgus, Scapular winging, Cafe-au-lait spot,... |
OMIM:151100 |
| Cardiospondylocarpofacial Syndrome |
|
Cone-shaped epiphysis, Tarsal synostosis, Telecanthus, Ptosis, Pseudoepiphyses, Epicanthus, Brach... |
OMIM:157800 |
| Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
| Hereditary Elliptocytosis |
|
Skin ulcer |
ORPHA:288 |
| Myasthenia Gravis |
|
Ptosis |
ORPHA:589 |
| Opitz Gbbb Syndrome |
|
Ptosis, Downslanted palpebral fissures, Telecanthus, Patent ductus arteriosus |
ORPHA:2745 |
| Charge Syndrome |
|
Hypoplasia of the ulna, Facial palsy, Absent tibia, Hand monodactyly, Bilateral talipes equinovar... |
OMIM:214800 |
| Erdheim-Chester Disease |
|
Abnormal metaphysis morphology, Xanthelasma, Ptosis, Abnormal epiphysis morphology |
ORPHA:35687 |
| Zygomycosis |
|
Abnormal cranial nerve morphology, Ptosis, Chemosis |
ORPHA:73263 |
| Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
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Optic atrophy, Ptosis, Simplified gyral pattern |
OMIM:614231 |
| Granulomatosis With Polyangiitis |
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Purpura, Skin ulcer |
ORPHA:900 |
| Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
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Ptosis, Nail dystrophy |
OMIM:615895 |
| Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis |
ORPHA:100085 |
| Malakoplakia |
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Skin ulcer |
ORPHA:556 |
| Primrose Syndrome |
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Dystrophic fingernails, Genu valgum, Narrow iliac wing, Sparse scalp hair, Synophrys, Metatarsus ... |
OMIM:259050 |
| Leukocyte Adhesion Deficiency, Type I |
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Skin ulcer |
OMIM:116920 |
| Singleton-Merten Syndrome 1 |
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High anterior hairline, Hypoplastic distal radial epiphyses, Expanded metatarsals with widened me... |
OMIM:182250 |
| Glycogen Storage Disease Xii |
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Ptosis, Epicanthus |
OMIM:611881 |
| Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
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Cataract, Ptosis, Neonatal death, Brittle hair |
OMIM:124000 |
| Tsh-Secreting Pituitary Adenoma |
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Ptosis, Pallor, Tremor, Abnormal hair quantity |
ORPHA:91347 |
| Good Syndrome |
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Ptosis |
ORPHA:169105 |
| Pearson Syndrome |
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Hyperpigmentation of the skin, Corneal stromal edema, Cafe-au-lait spot, Ptosis, Cataract, Pigmen... |
ORPHA:699 |
| Simple Cryoglobulinemia |
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Purpura, Acral ulceration |
ORPHA:91139 |
| Viss Syndrome |
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Rocker bottom foot, Ectropion, Genu valgum, Contracture of the proximal interphalangeal joint of ... |
OMIM:619472 |
| Cushing Syndrome Due To Ectopic Acth Secretion |
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Purpura, Skin ulcer, Hyperpigmentation of the skin, Hirsutism, Sparse scalp hair, Ecchymosis, Str... |
ORPHA:99889 |
| Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
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Ptosis |
OMIM:620303 |
| Gaucher Disease, Type Iiic |
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Opacification of the corneal stroma |
OMIM:231005 |
| Joubert Syndrome 5 |
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Ptosis, Occipital encephalocele |
OMIM:610188 |
| Digeorge Syndrome |
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Short palpebral fissure, Sclerocornea, Blepharophimosis, Posterior embryotoxon |
OMIM:188400 |
| Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13 |
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Optic nerve dysplasia, Opacification of the corneal stroma |
OMIM:615287 |
| Myasthenic Syndrome, Congenital, 21, Presynaptic |
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Ptosis |
OMIM:617239 |
| Alpha-N-Acetylgalactosaminidase Deficiency Type 2 |
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Opacification of the corneal stroma |
ORPHA:79280 |
| Glycogen Storage Disease Due To Acid Maltase Deficiency |
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Ptosis |
ORPHA:365 |
| Leukocyte Adhesion Deficiency |
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Conjunctivitis, Nail dystrophy, Pyoderma gangrenosum, Nasolacrimal sac granuloma |
ORPHA:2968 |
| Adenocarcinoma Of The Anal Canal |
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Skin ulcer |
ORPHA:424016 |
| Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
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Ptosis |
OMIM:618748 |
| Craniofacial Microsomia 1 |
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Occipital encephalocele, Upper eyelid coloboma, Hydrocephalus, Ptosis, Patent ductus arteriosus, ... |
OMIM:164210 |
| Hereditary Sensory And Autonomic Neuropathy Type 5 |
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ORPHA:64752 |
