Aplasia Cutis Congenita Of Limbs, Autosomal Recessive |
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Aplasia cutis congenita, Congenital absence of skin of limbs |
OMIM:600360 |
Aplasia Cutis Congenita, Nonsyndromic |
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Aplasia cutis congenita over the scalp vertex |
OMIM:107600 |
Exostoses-Anetodermia-Brachydactyly Type E Syndrome |
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Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1962 |
Scalp Defects And Postaxial Polydactyly |
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Aplasia cutis congenita of scalp |
OMIM:181250 |
Absence Of Fingerprints-Congenital Milia Syndrome |
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Milia, Thin skin, Hypohidrosis |
ORPHA:1658 |
Visceral Myopathy 2 |
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Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... |
OMIM:619350 |
Oculomotor-Levator Synkinesis |
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Ptosis, Eyelid retraction, Abnormal eyelid morphology |
OMIM:151610 |
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita |
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Aplasia cutis congenita of scalp |
OMIM:302803 |
Exostoses With Anetodermia And Brachydactyly, Type E |
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Dermal atrophy |
OMIM:133690 |
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features |
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Epicanthus, Optic atrophy, Upslanted palpebral fissure, Seizure, Ptosis |
OMIM:620086 |
Dermoodontodysplasia |
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Thin skin |
OMIM:125640 |
Marcus Gunn Phenomenon |
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Unilateral ptosis, Congenital ptosis |
OMIM:154600 |
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality |
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Atypical scarring of skin, Thin skin, Striae distensae |
OMIM:225310 |
Renal Glucosuria |
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Polydipsia, Polyphagia |
OMIM:233100 |
Intellectual Developmental Disorder, X-Linked, Syndromic 17 |
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Achalasia, Dysphagia |
OMIM:300858 |
Pruritic Urticarial Papules And Plaques Of Pregnancy |
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Striae distensae |
OMIM:178995 |
Striae Distensae, Familial |
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Striae distensae |
OMIM:185200 |
Moyamoya Disease 6 With Or Without Achalasia |
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Achalasia, Dysphagia |
OMIM:615750 |
Porokeratosis Of Mibelli |
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Aplasia/Hypoplasia of the skin |
ORPHA:735 |
Achalasia-Microcephaly Syndrome |
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Achalasia |
OMIM:200450 |
Kleine-Levin Hibernation Syndrome |
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Polyphagia |
OMIM:148840 |
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency |
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Aplasia/Hypoplasia of the skin, Thin skin |
ORPHA:745 |
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency |
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Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:743 |
Mungan Syndrome |
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Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... |
OMIM:611376 |
Hereditary Central Diabetes Insipidus |
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Polydipsia, Vomiting, Diarrhea |
ORPHA:30925 |
Type 1 Diabetes Mellitus |
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Polydipsia, Polyphagia |
OMIM:222100 |
Ptosis, Hereditary Congenital 1 |
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Congenital ptosis |
OMIM:178300 |
Ptosis, Hereditary Congenital 2 |
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Ptosis |
OMIM:300245 |
Kleine-Levin Syndrome |
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Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... |
ORPHA:33543 |
Peripheral Motor Neuropathy-Dysautonomia Syndrome |
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Achalasia |
ORPHA:2400 |
Autism, Susceptibility To, X-Linked 6 |
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Seizure, Obesity, Ptosis |
OMIM:300872 |
Deafness-Vitiligo-Achalasia Syndrome |
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Achalasia |
ORPHA:3239 |
Dermoodontodysplasia |
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Hypohidrosis, Thin skin, Melanocytic nevus |
ORPHA:1660 |
Fibrosis Of Extraocular Muscles, Congenital, 5 |
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Ptosis |
OMIM:616219 |
Acrogeria |
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Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:2500 |
Oculopharyngeal Muscular Dystrophy 1 |
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Ptosis, Facial palsy, Progressive ptosis |
OMIM:164300 |
Ptosis, Strabismus, And Ectopic Pupils |
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Ptosis |
OMIM:178330 |
Pick Disease Of Brain |
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Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition |
OMIM:172700 |
Obesity Due To Melanocortin 4 Receptor Deficiency |
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Polyphagia, Increased adipose tissue |
ORPHA:71529 |
X-Linked Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:75497 |
Oculomotor-Abducens Synkinesis |
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Ptosis |
OMIM:619215 |
Yoon-Bellen Neurodevelopmental Syndrome |
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Bilateral tonic-clonic seizure, Infantile spasms, Bilateral ptosis, Generalized myoclonic-atonic ... |
OMIM:619701 |
Dystonia-Deafness Syndrome 1 |
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Pseudobulbar paralysis, Achalasia, Dysphagia |
OMIM:607371 |
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia |
|
Thin skin, Hypohidrosis |
ORPHA:1810 |
Silver-Russell Syndrome 2 |
|
Thin skin, Hyperhidrosis |
OMIM:618905 |
Obesity, Hyperphagia, And Developmental Delay |
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Abnormal repetitive mannerisms, Polyphagia |
OMIM:613886 |
Achalasia-Microcephaly Syndrome |
|
Achalasia |
ORPHA:929 |
Fetal Encasement Syndrome |
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Thin skin |
OMIM:613630 |
Myasthenic Syndrome, Congenital, 17 |
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Ptosis |
OMIM:616304 |
Intellectual Disability-Alacrima-Achalasia Syndrome |
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Achalasia, Dysphagia, Aggressive behavior |
ORPHA:289483 |
Localized Dystrophic Epidermolysis Bullosa, Acral Form |
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Milia, Erythematous plaque, Thin skin, Dermal atrophy |
ORPHA:158673 |
Central Diabetes Insipidus |
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Nausea and vomiting, Polydipsia, Anorexia, Diarrhea |
ORPHA:178029 |
Hyperkeratosis Lenticularis Perstans |
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Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:409 |
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails |
|
Congenital localized absence of skin |
OMIM:132000 |
Myasthenic Syndrome, Congenital, 15 |
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Ptosis |
OMIM:616227 |
X-Linked Alport Syndrome-Diffuse Leiomyomatosis |
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Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... |
ORPHA:1018 |
Deafness, Congenital, With Vitiligo And Achalasia |
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Achalasia |
OMIM:221350 |
Myasthenic Syndrome, Congenital, 8 |
|
Ptosis |
OMIM:615120 |
Dystrophic Epidermolysis Bullosa Pruriginosa |
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Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule |
ORPHA:89843 |
Body Mass Index Quantitative Trait Locus 20 |
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Polyphagia |
OMIM:618406 |
Intellectual Developmental Disorder, X-Linked 101 |
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Unilateral ptosis, Seizure, Optic atrophy |
OMIM:300928 |
2p15-16.1 microdeletion syndrome |
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Telecanthus, Downslanted palpebral fissures, Ptosis |
DECIPHER:70 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4 |
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Abdominal distention, Hypoperistalsis |
OMIM:619365 |
Hiatt-Neu-Cooper Neurodevelopmental Syndrome |
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Seizure, Epicanthus, Horizontal eyebrow, Ptosis |
OMIM:619311 |
Myasthenic Syndrome, Congenital, 18 |
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Ptosis |
OMIM:616330 |
Frontotemporal Dementia |
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Polyphagia, Disinhibition, Inappropriate laughter |
OMIM:600274 |
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency |
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Polyphagia, Aggressive behavior |
ORPHA:329249 |
Myasthenic Syndrome, Congenital, 13 |
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Ptosis |
OMIM:614750 |
Familial Cervical Artery Dissection |
|
Thin skin, Striae distensae |
ORPHA:36382 |
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts |
|
Thin skin |
OMIM:259410 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
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Facial palsy, Ptosis |
OMIM:617732 |
Developmental Malformations-Deafness-Dystonia Syndrome |
|
Achalasia, Dysphagia |
ORPHA:79107 |
Immunodeficiency 70 |
|
Celiac disease, Achalasia, Colitis |
OMIM:618969 |
Ehlers-Danlos Syndrome, Cardiac Valvular Type |
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Atrophic scars, Thin skin |
OMIM:225320 |
Obesity And Hypopigmentation |
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Polyphagia |
OMIM:620195 |
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria |
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Abnormal cranial nerve morphology, Ptosis |
OMIM:258470 |
Scleromyxedema |
|
Abnormality of the gastrointestinal tract, Hypoperistalsis, Gastroesophageal reflux, Dysphagia |
ORPHA:167635 |
Microcephaly 16, Primary, Autosomal Recessive |
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Ptosis, Telecanthus, Seizure, Decreased body weight |
OMIM:616681 |
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome |
|
Omphalocele, Abnormality of the gastrointestinal tract, Nausea and vomiting, Intestinal malrotati... |
ORPHA:2241 |
Vocal Cord Paralysis And Ptosis |
|
Bilateral ptosis |
OMIM:193240 |
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect |
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Bilateral tonic-clonic seizure, Focal-onset seizure, Bilateral ptosis, Optic atrophy, Seizure, St... |
ORPHA:330050 |
Ptosis-Vocal Cord Paralysis Syndrome |
|
Ptosis |
ORPHA:2997 |
Atrophoderma Vermiculata |
|
Hypoplastic pilosebaceous units, Periauricular skin pits, Atrophic scars, Skin pit, Hyperkeratoti... |
ORPHA:79100 |
Intellectual Developmental Disorder, Autosomal Dominant 39 |
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Polyphagia, Self-mutilation, Aggressive behavior |
OMIM:616521 |
Achalasia, Familial Esophageal |
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Achalasia, Xerostomia |
OMIM:200400 |
Parietal Foramina 3 |
|
Aplasia cutis congenita of scalp |
OMIM:609566 |
Superficial Epidermolytic Ichthyosis |
|
Thin skin |
ORPHA:455 |
Paternal 20Q13.2Q13.3 Microdeletion Syndrome |
|
Skin dimple, Thin skin |
ORPHA:261304 |
Senior-Loken Syndrome 4 |
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Polydipsia |
OMIM:606996 |
14Q11.2 Microduplication Syndrome |
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Feeding difficulties in infancy, Polyphagia, Attention deficit hyperactivity disorder, Aggressive... |
ORPHA:261229 |
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development |
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Oral aversion, Achalasia, Gastroesophageal reflux, Feeding difficulties |
OMIM:600987 |
Joubert Syndrome 36 |
|
Seizure, Highly arched eyebrow, Ptosis |
OMIM:618763 |
Pseudoprogeria Syndrome |
|
Thin skin |
ORPHA:2985 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome |
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Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis |
ORPHA:126 |
Autosomal Dominant Deafness-Onychodystrophy Syndrome |
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Aplasia cutis congenita |
ORPHA:79499 |
Obesity Due To Sim1 Deficiency |
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Polyphagia, Attention deficit hyperactivity disorder, Feeding difficulties |
ORPHA:369873 |
Secondary Short Bowel Syndrome |
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Abnormal small intestine morphology, Villous atrophy, Aganglionic megacolon, Small intestinal dys... |
ORPHA:95427 |
Juvenile Hyaline Fibromatosis |
|
Subcutaneous nodule, Papule, Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:2028 |
Tetrasomy 18P |
|
Achalasia |
ORPHA:3307 |
Familial Cold Urticaria |
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Nausea and vomiting, Polydipsia, Abdominal pain |
ORPHA:47045 |
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome |
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Thin skin |
ORPHA:157965 |
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction |
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Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Gastroesophageal reflux... |
OMIM:619482 |
Acquired Central Diabetes Insipidus |
|
Polydipsia |
ORPHA:95626 |
Coffin-Siris Syndrome 8 |
|
Seizure, Long eyelashes, Failure to thrive, Thick eyebrow, Ptosis |
OMIM:618362 |
Obesity Due To Prohormone Convertase I Deficiency |
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Polyphagia, Increased adipose tissue |
ORPHA:71528 |
Obesity Due To Pro-Opiomelanocortin Deficiency |
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Polyphagia, Increased adipose tissue |
ORPHA:71526 |
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13 |
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Feeding difficulties in infancy, Hyperactivity, Polyphagia, Inappropriate laughter |
ORPHA:411515 |
Huntington Disease |
|
Aggressive behavior, Oral-pharyngeal dysphagia, Addictive alcohol use, Agitation, Compulsive beha... |
ORPHA:399 |
Ochoa Syndrome |
|
Polydipsia, Constipation, Bowel incontinence |
ORPHA:2704 |
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked |
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Frontalis muscle weakness, Ptosis, Facial palsy, Decreased body weight |
OMIM:300580 |
Leptin Receptor Deficiency |
|
Abnormal eating behavior, Polyphagia, Aggressive behavior |
OMIM:614963 |
Bardet-Biedl Syndrome 22 |
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Polyphagia |
OMIM:617119 |
Leptin Deficiency Or Dysfunction |
|
Polyphagia |
OMIM:614962 |
Posterior Column Ataxia With Retinitis Pigmentosa |
|
Flexion contracture of finger, Joint contracture of the hand, Achalasia, Camptodactyly |
OMIM:609033 |
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome |
|
Achalasia |
ORPHA:436174 |
Prader-Willi Syndrome Due To Imprinting Mutation |
|
Feeding difficulties in infancy, Polyphagia |
ORPHA:177910 |
Congenital Heart Defects And Ectodermal Dysplasia |
|
Thin skin |
OMIM:617364 |
Triple A Syndrome |
|
Achalasia |
ORPHA:869 |
Schaaf-Yang Syndrome |
|
Impulsivity, Flexion contracture, Poor suck, Feeding difficulties, Gastroesophageal reflux, Const... |
OMIM:615547 |
2Q23.1 Microdeletion Syndrome |
|
Hyperactivity, Abnormal repetitive mannerisms, Self-injurious behavior, Constipation, Polyphagia,... |
ORPHA:228402 |
Arthrochalasia Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1899 |
Periventricular Nodular Heterotopia |
|
Thin skin |
ORPHA:98892 |
Nephronophthisis-Like Nephropathy 2 |
|
Polydipsia |
OMIM:619468 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Cigarette-paper scars, Thin skin, Webbed neck |
OMIM:612350 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2 |
|
Facial palsy, Ptosis |
OMIM:609283 |
Aplasia Cutis Congenita |
|
Aplasia cutis congenita over the scalp vertex, Skin ulcer, Congenital localized absence of skin |
ORPHA:1114 |
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease |
|
Unilateral ptosis, Unilateral narrow palpebral fissure |
OMIM:182875 |
Developmental And Epileptic Encephalopathy 18 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow... |
OMIM:615476 |
Focal Facial Dermal Dysplasia Type I |
|
Skin dimple, Atrophic scars, Spotty hypopigmentation, Aplasia cutis congenita |
ORPHA:79133 |
Intermediate Generalized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atrophic scars, Milia, Aplasia cutis congenita |
ORPHA:79402 |
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Atrophic scars, Thin skin |
ORPHA:75496 |
Ulerythema Ophryogenesis |
|
Hyperkeratotic papule, Erythematous papule, Dermal atrophy |
ORPHA:3406 |
Riboflavin Transporter Deficiency |
|
Optic disc pallor, Facial palsy, Cachexia, Abnormal cranial nerve morphology, Seizure, Abnormal a... |
ORPHA:97229 |
Bardet-Biedl Syndrome 9 |
|
Polydipsia, Polyphagia |
OMIM:615986 |
Hypotonia-Cystinuria Syndrome |
|
Polyphagia |
ORPHA:163690 |
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome |
|
Highly arched eyebrow, Synophrys, Abnormal cranial nerve morphology, Blepharophimosis, Thick eyeb... |
ORPHA:2057 |
6Q16 Microdeletion Syndrome |
|
Poor suck, Polyphagia, Abnormal temper tantrums |
ORPHA:171829 |
Visceral Neuropathy, Familial, 2, Autosomal Recessive |
|
Short-segment aganglionic megacolon, Ptosis |
OMIM:619465 |
American Trypanosomiasis |
|
Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Diarrhea, Achalasia |
ORPHA:3386 |
Diabetes Insipidus, Nephrogenic, 2, Autosomal |
|
Feeding difficulties in infancy, Polydipsia, Vomiting, Constipation |
OMIM:125800 |
Diabetes Insipidus, Nephrogenic, 1, X-Linked |
|
Feeding difficulties in infancy, Polydipsia, Vomiting, Constipation |
OMIM:304800 |
Mitochondrial Complex I Deficiency, Nuclear Type 16 |
|
Seizure, Failure to thrive, Optic atrophy, Ptosis |
OMIM:618238 |
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2 |
|
Polyphagia |
OMIM:620085 |
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin, Atypical scarring of skin |
ORPHA:1366 |
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency |
|
Obesity, Ptosis |
ORPHA:171706 |
Progressive Hemifacial Atrophy |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1214 |
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy |
|
Dermal atrophy |
OMIM:617294 |
Classical-Like Ehlers-Danlos Syndrome Type 1 |
|
Thin skin |
ORPHA:230839 |
Spastic Ataxia 1, Autosomal Dominant |
|
Ptosis |
OMIM:108600 |
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency |
|
Failure to thrive, Ptosis |
OMIM:616326 |
Temple Syndrome |
|
Feeding difficulties in infancy, Feeding difficulties, Polyphagia, Nasogastric tube feeding |
ORPHA:254516 |
Cluster Headache, Familial |
|
Ptosis, Hyperhidrosis |
OMIM:119915 |
Familial Partial Lipodystrophy, Dunnigan Type |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:2348 |
Gaucher Disease, Atypical, Due To Saposin C Deficiency |
|
Bilateral tonic-clonic seizure with focal onset, Clonic seizure, Seizure, Status epilepticus, Myo... |
OMIM:610539 |
Familial Hyperaldosteronism Type I |
|
Polydipsia, Nausea |
ORPHA:403 |
Hyperinsulinism Due To Ucp2 Deficiency |
|
Agitation, Polyphagia, Feeding difficulties |
ORPHA:276556 |
Segawa Syndrome, Autosomal Recessive |
|
Myoclonus, Ptosis |
OMIM:605407 |
Hypertrichosis Cubiti |
|
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... |
ORPHA:2220 |
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder |
|
Seizure, Highly arched eyebrow, Ptosis |
OMIM:616154 |
Autoimmune Disease, Multisystem, Infantile-Onset, 1 |
|
Celiac disease, Achalasia, Abnormal intestine morphology, Exocrine pancreatic insufficiency |
OMIM:615952 |
Teratoma, Pineal |
|
Polydipsia |
OMIM:273120 |
Cebalid Syndrome |
|
Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties |
OMIM:618774 |
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency |
|
Agitation, Polyphagia, Feeding difficulties |
ORPHA:276575 |
Fazio-Londe Disease |
|
Facial diplegia, Ptosis |
OMIM:211500 |
Borjeson-Forssman-Lehmann Syndrome |
|
Obesity, Narrow palpebral fissure, Seizure, Blepharophimosis, Ptosis |
OMIM:301900 |
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies |
|
Blepharophimosis, Telecanthus, Obesity, Ptosis |
OMIM:606772 |
Pparg-Related Familial Partial Lipodystrophy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:79083 |
Intellectual Developmental Disorder With Autism And Macrocephaly |
|
Overweight, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:615032 |
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency |
|
Agitation, Polyphagia, Feeding difficulties |
ORPHA:276580 |
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism |
|
Thick eyebrow, Ptosis |
OMIM:606242 |
Diabetes Mellitus, Permanent Neonatal, 2 |
|
Bilateral ptosis, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with focal onset... |
OMIM:618856 |
Fatty Acyl-Coa Reductase 1 Deficiency |
|
Seizure, Highly arched eyebrow, Ptosis |
ORPHA:438178 |
11Q22.2Q22.3 Microdeletion Syndrome |
|
Epicanthus, Obesity, Seizure, Thick eyebrow, Ptosis |
ORPHA:444002 |
Hyperinsulinism Due To Hnf1A Deficiency |
|
Agitation, Polyphagia, Feeding difficulties |
ORPHA:324575 |
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome |
|
Epicanthus, Almond-shaped palpebral fissure, Synophrys, Increased body weight, Upslanted palpebra... |
ORPHA:589905 |
Parkinsonism-Dystonia 2, Infantile-Onset |
|
Ptosis, Abnormal autonomic nervous system physiology, Hyperhidrosis |
OMIM:618049 |
Prolidase Deficiency |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin, Papule |
ORPHA:742 |
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome |
|
Achalasia, Esophageal stenosis, Feeding difficulties, Dysphagia |
OMIM:615510 |
Coenzyme Q10 Deficiency, Primary, 4 |
|
Epilepsia partialis continua, Ptosis, Seizure, Myoclonus, Generalized tonic seizure |
OMIM:612016 |
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language |
|
Epicanthus, Telecanthus, Generalized-onset seizure, Sparse eyebrow, Seizure, Thick eyebrow, Ptosis |
OMIM:617268 |
Charcot-Marie-Tooth Disease, Axonal, Type 2E |
|
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... |
OMIM:607684 |
Myasthenic Syndrome, Congenital, 23, Presynaptic |
|
Ptosis |
OMIM:618197 |
Graves Disease, Susceptibility To, 1 |
|
Hyperactivity, Polyphagia |
OMIM:275000 |
Acth-Independent Macronodular Adrenal Hyperplasia |
|
Thin skin, Striae distensae |
OMIM:219080 |
Intellectual Developmental Disorder, Autosomal Dominant 26 |
|
Epicanthus, Thick eyebrow, Small for gestational age, Highly arched eyebrow, Upslanted palpebral ... |
OMIM:615834 |
Pigmented Nodular Adrenocortical Disease, Primary, 2 |
|
Thin skin, Striae distensae |
OMIM:610475 |
Waardenburg Syndrome Type 2 |
|
Telecanthus, Aganglionic megacolon, Ptosis |
ORPHA:895 |
Trismus-Pseudocamptodactyly Syndrome |
|
Ptosis |
ORPHA:3377 |
Ring Chromosome 1 Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1437 |
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis |
|
Congenital ptosis |
OMIM:192800 |
Nephrogenic Diabetes Insipidus |
|
Nausea and vomiting, Anorexia, Feeding difficulties, Constipation, Polydipsia |
ORPHA:223 |
Epidermolysis Bullosa, Junctional 1B, Severe |
|
Atrophic scars, Milia, Congenital localized absence of skin |
OMIM:226700 |
Amyotrophy, Hereditary Neuralgic |
|
Epicanthus, Upslanted palpebral fissure, Brachial plexus neuropathy, Blepharophimosis, Ptosis |
OMIM:162100 |
Chromosome 22Q13 Duplication Syndrome |
|
Attention deficit hyperactivity disorder, Polyphagia, Impulsivity |
OMIM:615538 |
Neuropathy, Hereditary Motor And Sensory, Russe Type |
|
Decreased motor nerve conduction velocity, Ptosis |
OMIM:605285 |
Cutis Laxa, Autosomal Recessive, Type Iiia |
|
Thin skin |
OMIM:219150 |
Xp22.3 Microdeletion Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin |
ORPHA:1643 |
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy |
|
Optic disc pallor, Bilateral tonic-clonic seizure with generalized onset, Myoclonic seizure, Seiz... |
OMIM:619076 |
Angelman Syndrome |
|
Abnormality of the gastrointestinal tract, Hyperactivity, Aggressive behavior, Gastrostomy tube f... |
ORPHA:72 |
Cystinosis |
|
Polydipsia, Abnormal repetitive mannerisms, Vomiting, Malabsorption |
ORPHA:213 |
Myasthenic Syndrome, Congenital, 12 |
|
Facial palsy, Ptosis |
OMIM:610542 |
Pemphigus Erythematosus |
|
Focal dermal aplasia/hypoplasia, Localized skin lesion, Hypopigmented skin patches, Erythematous ... |
ORPHA:79480 |
Mosaic Trisomy 14 |
|
Blepharophimosis, Seizure, Failure to thrive, Ptosis |
ORPHA:1703 |
Body Mass Index Quantitative Trait Locus 19 |
|
Polyphagia |
OMIM:617885 |
Spinocerebellar Ataxia, Autosomal Recessive 8 |
|
Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:610743 |
Combined Oxidative Phosphorylation Deficiency 20 |
|
Focal-onset seizure, Small for gestational age, Ptosis |
OMIM:615917 |
Myoclonus, Intractable, Neonatal |
|
Optic disc pallor, Myoclonus, Clonic seizure, Ptosis |
OMIM:617235 |
Aplasia Cutis-Myopia Syndrome |
|
Aplasia cutis congenita, Skin ulcer |
ORPHA:1117 |
Multisystemic Smooth Muscle Dysfunction Syndrome |
|
Intestinal malrotation, Hypoperistalsis |
OMIM:613834 |
Acrofacial Dysostosis Syndrome Of Rodriguez |
|
Thin skin |
OMIM:201170 |
Pediatric-Onset Graves Disease |
|
Nausea and vomiting, Hyperactivity, Diarrhea, Polydipsia, Polyphagia |
ORPHA:525731 |
19Q13.11 Microdeletion Syndrome |
|
Aplasia cutis congenita, Thin skin |
ORPHA:217346 |
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related |
|
Repetitive compulsive behavior, Hypersexuality, Agitation, Disinhibition, Polyphagia |
OMIM:607485 |
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency |
|
Seizure, Ptosis |
ORPHA:324262 |
Sclerosteosis |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:3152 |
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1373 |
Familial Hyperaldosteronism Type Iii |
|
Polydipsia, Nausea |
ORPHA:251274 |
Trisomy 18P |
|
Pyloric stenosis, Polyphagia, Attention deficit hyperactivity disorder |
ORPHA:1715 |
Hypotrichosis-Lymphedema-Telangiectasia Syndrome |
|
Thin skin |
OMIM:607823 |
Myasthenic Syndrome, Congenital, 3B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:616322 |
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616325 |
Spinocerebellar Ataxia, Autosomal Recessive 32 |
|
Abnormal nerve conduction velocity, Limb myoclonus, Ptosis |
OMIM:619862 |
Osteogenesis Imperfecta, Type Ii |
|
Thin skin |
OMIM:166210 |
Arthrogryposis, Distal, Type 7 |
|
Ptosis |
OMIM:158300 |
Cornelia De Lange Syndrome 2 |
|
Highly arched eyebrow, Synophrys, Seizure, Long eyelashes, Downslanted palpebral fissures, Thick ... |
OMIM:300590 |
Mirage Syndrome |
|
Achalasia, Chronic diarrhea, Gastroesophageal reflux, Esophageal stricture |
OMIM:617053 |
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies |
|
Epicanthus, Sparse eyebrow, Febrile seizure (within the age range of 3 months to 6 years), Downsl... |
OMIM:619989 |
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency |
|
Ptosis, Seizure, Small for gestational age, Hyperhidrosis |
ORPHA:70594 |
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities |
|
Bilateral ptosis, Seizure, Downslanted palpebral fissures |
OMIM:618859 |
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria |
|
Decreased nerve conduction velocity, Seizure, Cachexia, Ptosis |
ORPHA:1933 |
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome |
|
Facial palsy, Ptosis |
ORPHA:2743 |
Congenital Arthrogryposis With Anterior Horn Cell Disease |
|
Facial diplegia, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:611890 |
Autosomal Dominant Spastic Ataxia Type 1 |
|
Ptosis, Seizure, Abnormal eyelid morphology |
ORPHA:251282 |
Li-Campeau Syndrome |
|
Telecanthus, Seizure, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
OMIM:619189 |
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome |
|
Seizure, Epicanthus, Ptosis |
ORPHA:1825 |
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors |
|
Congenital ptosis |
OMIM:254190 |
Char Syndrome |
|
Thick eyebrow, Highly arched eyebrow, Ptosis |
OMIM:169100 |
Huriez Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:384 |
Whistling Face Syndrome, Recessive Form |
|
Telecanthus, Epicanthus, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:277720 |
Chromosome Xq13 Duplication Syndrome |
|
Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral... |
OMIM:301069 |
Pigmented Nodular Adrenocortical Disease, Primary, 1 |
|
Thin skin, Striae distensae |
OMIM:610489 |
Primary Unilateral Adrenal Hyperplasia |
|
Polydipsia, Nausea |
ORPHA:231580 |
Marshall-Smith Syndrome |
|
Thin skin |
ORPHA:561 |
Hypotonia-Cystinuria Syndrome |
|
Feeding difficulties in infancy, Polyphagia |
OMIM:606407 |
Myasthenic Syndrome, Congenital, 16 |
|
Bilateral ptosis, Ptosis |
OMIM:614198 |
Trisomy 5P |
|
Obesity, Ptosis |
ORPHA:1742 |
Visceral Neuropathy, Familial, 1, Autosomal Recessive |
|
Aganglionic megacolon, Abnormal autonomic nervous system physiology, Ptosis |
OMIM:243180 |
Fibrosis Of Extraocular Muscles, Congenital, 1 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... |
OMIM:135700 |
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities |
|
Upslanted palpebral fissure, Synophrys, Bilateral tonic-clonic seizure, Ptosis |
OMIM:616083 |
Ehlers-Danlos Syndrome, Periodontal Type, 1 |
|
Atrophic scars, Thin skin |
OMIM:130080 |
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome |
|
Thin skin, Hypohidrosis |
ORPHA:1812 |
Whipple Disease |
|
Gastrointestinal hemorrhage, Anorexia, Malabsorption, Abdominal pain, Diarrhea, Polydipsia |
ORPHA:3452 |
Septo-Optic Dysplasia Spectrum |
|
Esophageal atresia, Polydipsia, Constipation, Tracheoesophageal fistula |
ORPHA:3157 |
Ophthalmoplegia Totalis With Ptosis And Miosis |
|
Ptosis |
OMIM:258400 |
Pituitary Adenoma 4, Acth-Secreting |
|
Thin skin, Striae distensae |
OMIM:219090 |
Hyperaldosteronism, Familial, Type Iii |
|
Polydipsia |
OMIM:613677 |
East Syndrome |
|
Polydipsia, Salt craving |
ORPHA:199343 |
Epidermolysis Bullosa Simplex With Muscular Dystrophy |
|
Skin vesicle, Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule |
ORPHA:257 |
Central Hypoventilation Syndrome, Congenital, 1 |
|
Chronic constipation, Ineffective esophageal peristalsis, Aganglionic megacolon, Feeding difficul... |
OMIM:209880 |
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia |
|
Aplasia cutis congenita |
OMIM:612138 |
Nephronophthisis 4 |
|
Polydipsia |
OMIM:606966 |
Lichen Planopilaris |
|
Dermal atrophy, Papule, Hypopigmented skin patches, Skin ulcer |
ORPHA:525 |
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome |
|
Blepharophimosis, Telecanthus, Obesity, Ptosis |
ORPHA:397973 |
Focal Dermal Hypoplasia |
|
Macule, Aplasia/Hypoplasia of the skin, Skin nodule, Subcutaneous nodule, Thin skin, Dermal atrophy |
ORPHA:2092 |
Congenital Ptosis |
|
Unilateral ptosis, Anhidrosis, Congenital Horner syndrome, Telecanthus, Congenital facial diplegi... |
ORPHA:91411 |
Short Syndrome |
|
Thin skin |
OMIM:269880 |
Neurodevelopmental Disorder With Variable Motor And Language Impairment |
|
Cafe-au-lait spot, Thin skin |
OMIM:617804 |
Spinocerebellar Ataxia With Epilepsy |
|
Bilateral tonic-clonic seizure with focal onset, Optic atrophy, Myoclonus, Ptosis |
ORPHA:254881 |
Mitochondrial Complex I Deficiency, Nuclear Type 5 |
|
Seizure, Failure to thrive, Optic atrophy, Ptosis |
OMIM:618226 |
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement |
|
Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis ... |
OMIM:600638 |
Mitochondrial Complex I Deficiency, Nuclear Type 4 |
|
Seizure, Myoclonic seizure, Myoclonus, Ptosis |
OMIM:618225 |
Adult Syndrome |
|
Thin skin, Skin ulcer, Melanocytic nevus |
ORPHA:978 |
Cardiac-Valvular Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:230851 |
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia |
|
Achalasia, Flexion contracture |
OMIM:616007 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3 |
|
Ptosis |
OMIM:617069 |
Adams-Oliver Syndrome 4 |
|
Aplasia cutis congenita |
OMIM:615297 |
Spinocerebellar Ataxia 50 |
|
Froment sign, Myoclonus, Ptosis |
OMIM:620158 |
Kosaki Overgrowth Syndrome |
|
Xanthelasma, Thin skin |
OMIM:616592 |
Myasthenic Syndrome, Congenital, 3A, Slow-Channel |
|
Ptosis |
OMIM:616321 |
Blepharophimosis With Ptosis, Syndactyly, And Short Stature |
|
Ptosis, Synophrys, Blepharophimosis, Thick eyebrow, Frontalis muscle weakness |
OMIM:210745 |
Non-Specific Early-Onset Epileptic Encephalopathy |
|
Optic atrophy, Seizure, Status epilepticus, Myoclonus, Failure to thrive, Downslanted palpebral f... |
ORPHA:442835 |
Infantile Sialic Acid Storage Disease |
|
Seizure, Epicanthus, Failure to thrive, Ptosis |
OMIM:269920 |
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria) |
|
Generalized-onset seizure, Small for gestational age, Infantile spasms, Hyperhidrosis, Facial dip... |
OMIM:612073 |
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome |
|
Polydipsia, Nausea |
ORPHA:369929 |
Tooth Agenesis, Selective, 4 |
|
Palmoplantar hyperhidrosis, Thin skin, Hypohidrosis |
OMIM:150400 |
Cornelia De Lange Syndrome 5 |
|
Telecanthus, Highly arched eyebrow, Synophrys, Truncal obesity, Seizure, Long eyelashes, Ptosis |
OMIM:300882 |
Tetrasomy 12P |
|
Telecanthus, Cachexia, Sparse eyebrow, Hypohidrosis, Upslanted palpebral fissure, Ptosis |
ORPHA:884 |
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma |
|
Thin skin |
OMIM:112250 |
Senior-Loken Syndrome 3 |
|
Polydipsia |
OMIM:606995 |
Arthrogryposis, Distal, Type 2B3 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618436 |
Baraitser-Winter Syndrome 2 |
|
Telecanthus, Highly arched eyebrow, Seizure, Long palpebral fissure, Ptosis |
OMIM:614583 |
Intellectual Developmental Disorder, Autosomal Dominant 1 |
|
Aggressive behavior, Feeding difficulties, Self-injurious behavior, Gastroesophageal reflux, Inap... |
OMIM:156200 |
Localized Junctional Epidermolysis Bullosa |
|
Scarring alopecia of scalp, Atypical scarring of skin, Aplasia cutis congenita, Skin detachment, ... |
ORPHA:251393 |
Goldberg-Shprintzen Megacolon Syndrome |
|
Sparse eyebrow, Seizure, Aganglionic megacolon, Ptosis |
ORPHA:66629 |
Mcdonough Syndrome |
|
Synophrys, Short palpebral fissure, Cachexia, Ptosis |
ORPHA:2471 |
Mandibuloacral Dysplasia With Type B Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90154 |
Premature Aging Syndrome, Penttinen Type |
|
Keloids, Skin nodule, Thin skin, Dermal atrophy |
OMIM:601812 |
Mandibuloacral Dysplasia |
|
Thin skin |
ORPHA:2457 |
Spinal Muscular Atrophy, X-Linked 2 |
|
Decreased compound muscle action potential amplitude, Facial palsy, Ptosis |
OMIM:301830 |
Ascher Syndrome |
|
Blepharophimosis, Ptosis, Upper eyelid edema, Abnormal eyelid morphology |
ORPHA:1253 |
Diabetes And Deafness, Maternally Inherited |
|
Seizure, Ptosis |
OMIM:520000 |
Spinocerebellar Ataxia, Autosomal Recessive 31 |
|
Seizure, Optic atrophy, Ptosis |
OMIM:619422 |
Bardet-Biedl Syndrome 17 |
|
Polydipsia |
OMIM:615994 |
Man1B1-Cdg |
|
Polyphagia |
ORPHA:397941 |
Mitochondrial Complex Ii Deficiency, Nuclear Type 1 |
|
Seizure, Optic atrophy, Myoclonus, Ptosis |
OMIM:252011 |
Gitelman Syndrome |
|
Salt craving, Abdominal pain, Vomiting, Constipation, Polydipsia, Chondrocalcinosis |
OMIM:263800 |
Warburg Micro Syndrome 1 |
|
Failure to thrive, Optic atrophy, Ptosis |
OMIM:600118 |
Leigh Syndrome |
|
Seizure, Failure to thrive, Optic atrophy, Ptosis |
OMIM:256000 |
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence |
|
Ptosis |
OMIM:609612 |
Recon Progeroid Syndrome |
|
Thin skin |
OMIM:620370 |
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy |
|
Aplasia/Hypoplasia of the skin, Xanthomatosis, Thin skin |
ORPHA:280365 |
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2958 |
Geroderma Osteodysplastica |
|
Thin skin |
ORPHA:2078 |
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome |
|
Epicanthus, Synophrys, Downslanted palpebral fissures, Ptosis |
ORPHA:1390 |
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome |
|
Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis |
ORPHA:3038 |
Wernicke-Korsakoff Syndrome |
|
Ptosis |
OMIM:277730 |
Symptomatic Form Of Fragile X Syndrome In Female Carriers |
|
Thin skin |
ORPHA:449291 |
Deafness, X-Linked 7 |
|
Telecanthus, Thick eyebrow, Ptosis |
OMIM:301018 |
Achalasia-Addisonianism-Alacrima Syndrome |
|
Achalasia |
OMIM:231550 |
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy |
|
Optic atrophy, Abnormal auditory evoked potentials, Ptosis |
OMIM:125250 |
X-Linked Creatine Transporter Deficiency |
|
Seizure, Aganglionic megacolon, Cachexia, Ptosis |
ORPHA:52503 |
Joubert Syndrome 26 |
|
Ptosis |
OMIM:616784 |
Insulinoma |
|
Zollinger-Ellison syndrome, Polyphagia |
ORPHA:97279 |
Mandibuloacral Dysplasia With Type A Lipodystrophy |
|
Dermal atrophy, Thin skin |
ORPHA:90153 |
Frontoocular Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:605321 |
Chromosome 3Pter-P25 Deletion Syndrome |
|
Epicanthus, Small for gestational age, Highly arched eyebrow, Synophrys, Upslanted palpebral fiss... |
OMIM:613792 |
Hypohidrotic Ectodermal Dysplasia |
|
Thin skin, Hypohidrosis |
ORPHA:238468 |
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2 |
|
Epicanthus, Failure to thrive in infancy, Cachexia, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:616801 |
Myasthenic Syndrome, Congenital, 1B, Fast-Channel |
|
Facial palsy, Ptosis |
OMIM:608930 |
Congenital Myopathy With Myasthenic-Like Onset |
|
Failure to thrive, Ptosis |
ORPHA:424107 |
Proximal Xq28 Duplication Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:1762 |
Microcephaly-Capillary Malformation Syndrome |
|
Small for gestational age, Infantile spasms, Optic atrophy, Seizure, Myoclonus, Failure to thrive... |
OMIM:614261 |
Prieto Syndrome |
|
Epicanthus, Ptosis |
OMIM:309610 |
Pyruvate Dehydrogenase E1-Alpha Deficiency |
|
Seizure, Small for gestational age, Myoclonus, Ptosis |
OMIM:312170 |
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome |
|
Overweight, Seizure, Blepharophimosis, Failure to thrive, Downslanted palpebral fissures, Ptosis |
ORPHA:391372 |
Chromosome 3Q13.31 Deletion Syndrome |
|
Seizure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:615433 |
Rapp-Hodgkin Syndrome |
|
Thin skin, Hypohidrosis |
OMIM:129400 |
Nephronophthisis 3 |
|
Polydipsia |
OMIM:604387 |
Cutis Laxa, Autosomal Recessive, Type Iiib |
|
Thin skin |
OMIM:614438 |
Self-Improving Dystrophic Epidermolysis Bullosa |
|
Aplasia cutis congenita, Atrophic scars, Skin erosion, Milia |
ORPHA:79411 |
Congenital Heart Defects And Skeletal Malformations Syndrome |
|
Thin skin |
OMIM:617602 |
Toxic Epidermal Necrolysis |
|
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Abdominal pain, Intestin... |
ORPHA:537 |
Pontocerebellar Hypoplasia, Type 16 |
|
Seizure, Optic atrophy, Ptosis |
OMIM:619527 |
Hyperparathyroidism, Neonatal Severe |
|
Feeding difficulties in infancy, Polydipsia, Constipation |
OMIM:239200 |
Magel2-Related Prader-Willi-Like Syndrome |
|
Impulsivity, Flexion contracture, Xerostomia, Poor suck, Feeding difficulties, Chronic constipati... |
ORPHA:398069 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4 |
|
Ptosis |
OMIM:617070 |
Distal Duplication 15Q |
|
Blepharophimosis, Seizure, Downslanted palpebral fissures, Ptosis |
ORPHA:1707 |
Oculopharyngeal Myopathy With Leukoencephalopathy 1 |
|
Ptosis |
OMIM:618637 |
Oculopharyngodistal Myopathy 2 |
|
Ptosis |
OMIM:618940 |
Congenital Myopathy 4A, Autosomal Dominant |
|
Failure to thrive, Facial palsy, Ptosis |
OMIM:255310 |
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome |
|
Ptosis |
ORPHA:1875 |
Secondary Non-Traumatic Avascular Necrosis |
|
Addictive alcohol use, Abnormality of connective tissue |
ORPHA:399180 |
Nephronophthisis 1 |
|
Polydipsia |
OMIM:256100 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18 |
|
Achalasia, Esophagitis, Feeding difficulties |
OMIM:615356 |
Dermatosparaxis Ehlers-Danlos Syndrome |
|
Thin skin |
ORPHA:1901 |
Proteus Syndrome |
|
Limbal dermoid, Downslanted palpebral fissures, Ptosis |
OMIM:176920 |
Glass Syndrome |
|
Thin skin |
OMIM:612313 |
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome |
|
Ptosis |
ORPHA:83619 |
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures |
|
Multifocal seizures, Bilateral tonic-clonic seizure, Generalized non-motor (absence) seizure, Sei... |
OMIM:618170 |
Adult Syndrome |
|
Dermal atrophy, Thin skin |
OMIM:103285 |
Wagro Syndrome |
|
Agitation, Polyphagia, Compulsive behaviors, Aggressive behavior |
OMIM:612469 |
Luscan-Lumish Syndrome |
|
Polyphagia, Aggressive behavior |
OMIM:616831 |
Coffin-Siris Syndrome 5 |
|
Seizure, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:616938 |
Developmental And Epileptic Encephalopathy 84 |
|
Epicanthus, Epileptic spasm, Synophrys, Seizure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:618792 |
Xeroderma Pigmentosum |
|
Macule, Hypermelanotic macule, Hypopigmented skin patches, Melanocytic nevus, Thin skin, Dermal a... |
ORPHA:910 |
Stuve-Wiedemann Syndrome 1 |
|
Milia, Thin skin, Hyperhidrosis |
OMIM:601559 |
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations |
|
Optic disc pallor, Abnormal auditory evoked potentials, Long eyelashes, Downslanted palpebral fis... |
OMIM:617523 |
Hyperparathyroidism-Jaw Tumor Syndrome |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Lipoma, Poly... |
ORPHA:99880 |
Neuropathy, Congenital Hypomyelinating, 3 |
|
Decreased motor nerve conduction velocity, Epicanthus, Cachexia, Facial diplegia, Seizure, Ptosis |
OMIM:618186 |
Perlman Syndrome |
|
Seizure, Epicanthus, Status epilepticus, Ptosis |
ORPHA:2849 |
Myasthenic Syndrome, Congenital, 2A, Slow-Channel |
|
Facial palsy, Ptosis |
OMIM:616313 |
Ophthalmoplegia, External, And Myopia |
|
Ptosis |
OMIM:311000 |
Fabry Disease |
|
Nausea and vomiting, Anorexia, Malabsorption, Abdominal pain, Achalasia |
ORPHA:324 |
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair |
|
Polyphagia |
OMIM:609734 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Aplasia cutis congenita of scalp |
OMIM:619817 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
|
Preauricular pit, Cafe-au-lait spot, Thin skin, Webbed neck |
OMIM:617506 |
Parathyroid Carcinoma |
|
Nausea and vomiting, Peptic ulcer, Episodic abdominal pain, Constipation, Dysphagia, Lipoma, Poly... |
ORPHA:143 |
Hereditary Acrokeratotic Poikiloderma |
|
Skin ulcer, Hypopigmented skin patches, Papule, Thin skin |
ORPHA:2907 |
Osteogenesis Imperfecta, Type I |
|
Thin skin |
OMIM:166200 |
Myasthenic Syndrome, Congenital, 4B, Fast-Channel |
|
Ptosis |
OMIM:616324 |
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:608931 |
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome |
|
Optic atrophy, Ptosis |
ORPHA:1154 |
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome |
|
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis |
ORPHA:228396 |
Blepharophimosis-Impaired Intellectual Development Syndrome |
|
Epicanthus, Sparse eyelashes, Highly arched eyebrow, Sparse eyebrow, Synophrys, Narrow palpebral ... |
OMIM:619293 |
Oculopharyngeal Muscular Dystrophy |
|
Ptosis |
ORPHA:270 |
Neonatal Adrenoleukodystrophy |
|
Seizure, Optic atrophy, Ptosis |
ORPHA:44 |
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome |
|
Ptosis |
ORPHA:330054 |
Chromosome 5Q12 Deletion Syndrome |
|
Epicanthus, Seizure, Long palpebral fissure, Febrile seizure (within the age range of 3 months to... |
OMIM:615668 |
Combined Oxidative Phosphorylation Deficiency 7 |
|
Optic atrophy, Facial diplegia, Facial paralysis, Failure to thrive, Ptosis |
OMIM:613559 |
Hengel-Maroofian-Schols Syndrome |
|
Epicanthus, Synophrys, Seizure, Thick eyebrow, Ptosis |
OMIM:619641 |
Legius Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:611431 |
Freeman-Sheldon Syndrome |
|
Failure to thrive, Downslanted palpebral fissures, Ptosis |
ORPHA:2053 |
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked |
|
Anhidrosis, Thin skin, Hypoplastic-absent sebaceous glands, Hypohidrosis |
OMIM:305100 |
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion |
|
Gastroparesis, Feeding difficulties in infancy, Bulimia, Self-injurious behavior, Abnormal temper... |
ORPHA:98793 |
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2 |
|
Failure to thrive, Ptosis |
OMIM:613561 |
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability |
|
Optic atrophy, Ptosis |
ORPHA:1473 |
Apparent Mineralocorticoid Excess |
|
Polydipsia |
ORPHA:320 |
Schuurs-Hoeijmakers Syndrome |
|
Highly arched eyebrow, Synophrys, Seizure, Long eyelashes, Downslanted palpebral fissures, Ptosis |
OMIM:615009 |
Cardiofaciocutaneous Syndrome 4 |
|
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Optic nerve hypoplasia, Hyperhidrosis,... |
OMIM:615280 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2 |
|
Gastroparesis, Feeding difficulties in infancy, Bulimia, Self-injurious behavior, Abnormal temper... |
ORPHA:177904 |
Pituitary Dermoid And Epidermoid Cysts |
|
Nausea and vomiting, Polydipsia |
ORPHA:91351 |
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1 |
|
Gastroparesis, Feeding difficulties in infancy, Bulimia, Self-injurious behavior, Abnormal temper... |
ORPHA:177901 |
Congenital Disorder Of Glycosylation, Type Iio |
|
Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:616828 |
Spinocerebellar Ataxia, Autosomal Recessive 13 |
|
Seizure, Ptosis |
OMIM:614831 |
Nephronophthisis 11 |
|
Polydipsia |
OMIM:613550 |
Spastic Ataxia 5, Autosomal Recessive |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Ptosis |
OMIM:614487 |
Kaufman Oculocerebrofacial Syndrome |
|
Preauricular skin tag, Thin skin |
OMIM:244450 |
Myasthenic Syndrome, Congenital, 10 |
|
Ptosis |
OMIM:254300 |
Flynn-Aird Syndrome |
|
Dermal atrophy |
OMIM:136300 |
Hadziselimovic Syndrome |
|
Epicanthus, Failure to thrive, Ptosis |
OMIM:612946 |
Helix Syndrome |
|
Polydipsia, Xerostomia |
OMIM:617671 |
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency |
|
Thin skin |
OMIM:615895 |
Waardenburg Syndrome Type 1 |
|
Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Synophrys, Thick eyebrow, Ptosis |
ORPHA:894 |
Terminal Osseous Dysplasia |
|
Upslanted palpebral fissure, Epicanthus, Telecanthus, Ptosis |
OMIM:300244 |
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15 |
|
Gastroparesis, Feeding difficulties in infancy, Bulimia, Self-injurious behavior, Abnormal temper... |
ORPHA:98754 |
Isolated Congenital Alacrima |
|
Achalasia |
ORPHA:91416 |
Wolfram Syndrome |
|
Gastrointestinal hemorrhage, Malabsorption, Feeding difficulties in infancy, Gastric ulcer, Const... |
ORPHA:3463 |
Focal Facial Dermal Dysplasia Type Iii |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1807 |
Agenesis Of The Corpus Callosum With Peripheral Neuropathy |
|
Decreased motor nerve conduction velocity, Decreased nerve conduction velocity, Facial diplegia, ... |
OMIM:218000 |
Adnp Syndrome |
|
Inguinal hernia, Aggressive behavior, Oral-pharyngeal dysphagia, Chronic constipation, Vomiting, ... |
ORPHA:404448 |
Panhypophysitis |
|
Polydipsia, Nausea, Poor appetite |
ORPHA:95513 |
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect |
|
Bilateral tonic-clonic seizure, Focal impaired awareness seizure, Ptosis |
OMIM:617468 |
Obesity Due To Congenital Leptin Deficiency |
|
Polyphagia |
ORPHA:66628 |
Arterial Tortuosity Syndrome |
|
Thin skin |
OMIM:208050 |
Adams-Oliver Syndrome 3 |
|
Aplasia cutis congenita |
OMIM:614814 |
Senior-Boichis Syndrome |
|
Aggressive behavior, Esophageal varix, Agitation, Attention deficit hyperactivity disorder, Polyd... |
ORPHA:84081 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 3 |
|
Failure to thrive, Status epilepticus, Ptosis |
OMIM:619046 |
Fibrosis Of Extraocular Muscles, Congenital, 2 |
|
Bilateral ptosis, Congenital fibrosis of extraocular muscles |
OMIM:602078 |
Intellectual Developmental Disorder, Autosomal Dominant 23 |
|
Upslanted palpebral fissure, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:615761 |
Nodular Non-Suppurative Panniculitis |
|
Subcutaneous nodule, Panniculitis, Aplasia/Hypoplasia of the skin |
ORPHA:33577 |
Myopathy, Centronuclear, 1 |
|
Facial palsy, Ptosis |
OMIM:160150 |
Spinocerebellar Ataxia Type 28 |
|
Ptosis |
ORPHA:101109 |
Myasthenic Syndrome, Congenital, 6, Presynaptic |
|
Ptosis |
OMIM:254210 |
Obesity Due To Leptin Receptor Gene Deficiency |
|
Polyphagia |
ORPHA:179494 |
Frias Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:609640 |
Purpura Simplex |
|
Ptosis |
OMIM:179000 |
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement |
|
Restlessness, Aggressive behavior, Feeding difficulties in infancy, Nasogastric tube feeding in i... |
ORPHA:251028 |
Oculocerebral Hypopigmentation Syndrome, Cross Type |
|
Thin skin |
ORPHA:2719 |
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome |
|
Optic disc pallor, Seizure, Ptosis |
ORPHA:363429 |
De Barsy Syndrome |
|
Thin skin |
ORPHA:2962 |
Stickler Syndrome, Type Vi |
|
Downslanted palpebral fissures, Ptosis |
OMIM:620022 |
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies |
|
Seizure, Infantile spasms, Ptosis |
OMIM:618731 |
Combined Oxidative Phosphorylation Deficiency 47 |
|
Failure to thrive, Ptosis |
OMIM:618958 |
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Thin skin |
ORPHA:536467 |
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion |
|
Ptosis, Telecanthus, Epileptic spasm, Bilateral tonic-clonic seizure with generalized onset, Foca... |
ORPHA:314655 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6 |
|
Slender build, Ptosis |
OMIM:615156 |
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome |
|
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
ORPHA:457365 |
Non-Distal Deletion 10Q |
|
Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys |
ORPHA:1581 |
Craniosynostosis 3 |
|
Ptosis |
OMIM:615314 |
Noonan Syndrome 11 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618499 |
Hartsfield Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2117 |
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance |
|
Polydipsia, Salt craving |
OMIM:612780 |
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome |
|
Generalized myoclonic seizure, Bilateral tonic-clonic seizure, Myoclonus, Ptosis |
ORPHA:313772 |
Myasthenic Syndrome, Congenital, 4A, Slow-Channel |
|
Ptosis |
OMIM:605809 |
Senior-Loken Syndrome 1 |
|
Polydipsia |
OMIM:266900 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Thin skin |
OMIM:612199 |
King-Denborough Syndrome |
|
Bilateral ptosis, Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:619542 |
Chromosome Xq26.3 Duplication Syndrome |
|
Polyphagia |
OMIM:300942 |
Joubert Syndrome 30 |
|
Seizure, Ptosis |
OMIM:617622 |
Renal Hypoplasia |
|
Polydipsia |
ORPHA:93101 |
Intellectual Developmental Disorder, Autosomal Dominant 34 |
|
Epicanthus, Bilateral tonic-clonic seizure, Bilateral ptosis, Synophrys, Upslanted palpebral fissure |
OMIM:616351 |
Mitochondrial Neurogastrointestinal Encephalomyopathy |
|
Decreased motor nerve conduction velocity, Cachexia, Weight loss, Abnormality of the extraocular ... |
ORPHA:298 |
Spondylodysplastic Ehlers-Danlos Syndrome |
|
Atrophic scars, Numerous nevi, Thin skin |
ORPHA:536471 |
Blepharoptosis, Myopia, And Ectopia Lentis |
|
Congenital ptosis |
OMIM:110150 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type |
|
Epicanthus, Tonic seizure, Generalized non-motor (absence) seizure, Upslanted palpebral fissure, ... |
OMIM:300260 |
Arterial Tortuosity Syndrome |
|
Thin skin |
ORPHA:3342 |
Wagr Syndrome |
|
Obesity, Ptosis |
ORPHA:893 |
Baraitser-Winter Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Seizure, Long palpebral fissure, Failure to thrive, Ptosis |
OMIM:243310 |
Childhood-Onset Nemaline Myopathy |
|
Facial diplegia, Slender build, Ptosis |
ORPHA:171439 |
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis |
|
Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis |
OMIM:618736 |
Microphthalmia, Syndromic 13 |
|
Ptosis |
OMIM:300915 |
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis |
|
Blepharophimosis, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:617333 |
Cleft Palate-Large Ears-Small Head Syndrome |
|
Ptosis |
ORPHA:2013 |
Combined Oxidative Phosphorylation Deficiency 32 |
|
Seizure, Optic atrophy, Ptosis |
OMIM:617664 |
Oligomeganephronia |
|
Polydipsia, Congenital diaphragmatic hernia |
ORPHA:2260 |
Ophthalmoplegia, Familial Total, With Iris Transillumination |
|
Ptosis |
OMIM:165098 |
Spinocerebellar Ataxia 47 |
|
Seizure, Ptosis |
OMIM:617931 |
Myasthenic Syndrome, Congenital, 5 |
|
Ptosis |
OMIM:603034 |
Adult Intestinal Botulism |
|
Ptosis |
ORPHA:178487 |
Paternal Uniparental Disomy Of Chromosome 1 |
|
Polyphagia, Abnormal dental enamel morphology |
ORPHA:251004 |
Neurofibromatosis-Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:638 |
Noonan Syndrome 8 |
|
Epicanthus, Large for gestational age, Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:615355 |
Sim1-Related Prader-Willi-Like Syndrome |
|
Xerostomia, Skin-picking, Abnormal temper tantrums, Polyphagia, Nasogastric tube feeding |
ORPHA:398079 |
Paroxysmal Hemicrania |
|
Focal sensory seizure with olfactory features, Conjunctival hyperemia, Palpebral edema, Ptosis |
ORPHA:157835 |
Methanol Poisoning |
|
Diarrhea, Addictive alcohol use, Vomiting, Abdominal pain |
ORPHA:31825 |
Rere-Related Neurodevelopmental Syndrome |
|
Epicanthus, Optic atrophy, Seizure, Blepharophimosis, Broad eyebrow, Ptosis |
ORPHA:494344 |
Coffin-Siris Syndrome 3 |
|
Seizure, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614608 |
Rubinstein-Taybi Syndrome |
|
Epicanthus, Telecanthus, Failure to thrive in infancy, Highly arched eyebrow, Nasolacrimal duct o... |
ORPHA:783 |
Borjeson-Forssman-Lehmann Syndrome |
|
Truncal obesity, Seizure, Blepharophimosis, Thick eyebrow, Ptosis |
ORPHA:127 |
Adult-Onset Autosomal Recessive Cerebellar Ataxia |
|
Generalized-onset seizure, Tortuosity of conjunctival vessels, Ptosis |
ORPHA:284289 |
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome |
|
Ptosis |
ORPHA:2229 |
Frontofacionasal Dysplasia |
|
Telecanthus, Blepharophimosis, Upper eyelid coloboma, Limbal dermoid, Absent inner eyelashes, Apl... |
ORPHA:1791 |
Autosomal Recessive Progressive External Ophthalmoplegia |
|
Optic atrophy, Facial palsy, Ptosis |
ORPHA:254886 |
X-Linked Intellectual Disability Due To Gria3 Mutations |
|
Bilateral tonic-clonic seizure, Seizure, Status epilepticus, Myoclonus, Eversion of lateral third... |
ORPHA:364028 |
Linear Skin Defects With Multiple Congenital Anomalies 2 |
|
Aplasia cutis congenita, Asymmetric, linear skin defects |
OMIM:300887 |
Houge-Janssens Syndrome 1 |
|
Seizure, Multifocal seizures, Downslanted palpebral fissures, Ptosis |
OMIM:616355 |
Ohdo Syndrome |
|
Epicanthus, Sparse eyebrow, Seizure, Blepharophimosis, Ptosis |
OMIM:249620 |
Developmental And Epileptic Encephalopathy 110 |
|
Generalized non-motor (absence) seizure, Focal impaired awareness hemiclonic seizure, Ptosis |
OMIM:620149 |
4Q21 Microdeletion Syndrome |
|
Seizure, Synophrys, Long eyelashes, Ptosis |
ORPHA:238750 |
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome |
|
Blepharophimosis, Epicanthus, Ptosis |
ORPHA:3236 |
Stiff Skin Syndrome |
|
Subcutaneous nodule, Aplasia/Hypoplasia of the skin |
ORPHA:2833 |
Prader-Willi Syndrome |
|
Gastroparesis, Nasogastric tube feeding in infancy, Xerostomia, Poor suck, Vomiting, Attention de... |
ORPHA:739 |
Congenital Myopathy 6 With Ophthalmoplegia |
|
Ptosis |
OMIM:605637 |
Proximal Myopathy With Extrapyramidal Signs |
|
Optic atrophy, Ptosis |
ORPHA:401768 |
7Q11.23 Microduplication Syndrome |
|
Inguinal hernia, Collectionism, Hyperactivity, Congenital diaphragmatic hernia, Aggressive behavi... |
ORPHA:96121 |
Rhyns Syndrome |
|
Ptosis |
ORPHA:140976 |
Hypomagnesemia 3, Renal |
|
Feeding difficulties in infancy, Polydipsia, Abdominal pain |
OMIM:248250 |
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome |
|
Aggressive behavior, Celiac disease, Gastrointestinal dysmotility, Feeding difficulties, Self-inj... |
ORPHA:293987 |
Sunct Syndrome |
|
Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Conjunctival hyperemia, Ptosis |
ORPHA:57145 |
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia |
|
Seizure, Bilateral tonic-clonic seizure with generalized onset, Ptosis |
OMIM:618451 |
Infantile Nephropathic Cystinosis |
|
Polydipsia, Vomiting, Constipation |
ORPHA:411629 |
Ataxia-Telangiectasia |
|
Multiple cafe-au-lait spots, Aplasia/Hypoplasia of the skin |
ORPHA:100 |
Myopathy With Extrapyramidal Signs |
|
Epicanthus, Optic atrophy, Seizure, Status epilepticus, Ptosis |
OMIM:615673 |
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy |
|
Ptosis |
OMIM:619972 |
Bachmann-Bupp Syndrome |
|
Absent eyebrow, Sparse eyelashes, Large for gestational age, Blepharophimosis, Downslanted palpeb... |
OMIM:619075 |
Visceral Myopathy 1 |
|
Gastroparesis, Aganglionic megacolon, Intestinal pseudo-obstruction, Abdominal pain, Abdominal di... |
OMIM:155310 |
Chromosome 19Q13.11 Deletion Syndrome, Distal |
|
Sparse eyelashes, Blepharophimosis, Sparse eyebrow, Long palpebral fissure, Febrile seizure (with... |
OMIM:613026 |
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder |
|
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Generalized non-motor (absence) se... |
OMIM:617360 |
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies |
|
Epicanthus, Upslanted palpebral fissure, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:618659 |
Muenke Syndrome |
|
Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:602849 |
Baraitser-Winter Cerebrofrontofacial Syndrome |
|
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Optic disc coloboma, Seizure, Eu... |
ORPHA:2995 |
Myasthenic Syndrome, Congenital, 1A, Slow-Channel |
|
Ptosis |
OMIM:601462 |
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14 |
|
Seizure, Ptosis |
OMIM:615351 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1 |
|
Molluscoid pseudotumors, Thin skin |
OMIM:225400 |
Distal Renal Tubular Acidosis |
|
Poor appetite, Diarrhea, Vomiting, Constipation, Polydipsia |
ORPHA:18 |
Isolated Atp Synthase Deficiency |
|
Myoclonic seizure, Seizure, Optic atrophy, Ptosis |
ORPHA:254913 |
Joubert Syndrome 35 |
|
Telecanthus, Synophrys, Highly arched eyebrow, Ptosis |
OMIM:618161 |
Meier-Gorlin Syndrome 1 |
|
Thin skin |
OMIM:224690 |
Deafness, Conductive, With Ptosis And Skeletal Anomalies |
|
Ptosis |
OMIM:221320 |
Juberg-Hayward Syndrome |
|
Highly arched eyebrow, Ptosis |
OMIM:216100 |
Arthrogryposis, Distal, Type 2A |
|
Epicanthus, Telecanthus, Small for gestational age, Abnormal auditory evoked potentials, Seizure,... |
OMIM:193700 |
Rabson-Mendenhall Syndrome |
|
Reduced subcutaneous adipose tissue, Polydipsia |
ORPHA:769 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4 |
|
Seizure, Failure to thrive, Facial palsy, Ptosis |
OMIM:610131 |
Autosomal Recessive Dopa-Responsive Dystonia |
|
Myoclonus, Ptosis |
ORPHA:101150 |
Coffin-Siris Syndrome 2 |
|
Seizure, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614607 |
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency |
|
Facial palsy, Ptosis |
OMIM:616323 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Ptosis, Hyperhidrosis |
ORPHA:2617 |
Marchiafava-Bignami Disease |
|
Malnutrition, Addictive alcohol use, Vomiting, Aggressive behavior |
ORPHA:221074 |
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency |
|
Small for gestational age, Congenital bilateral ptosis, Truncal obesity, Failure to thrive, Ptosis |
ORPHA:73272 |
Iatrogenic Botulism |
|
Orthostatic hypotension, Ptosis |
ORPHA:254509 |
Teebi Hypertelorism Syndrome 2 |
|
Upper eyelid coloboma, Thick eyebrow, Ptosis |
OMIM:619736 |
Intellectual Developmental Disorder, Autosomal Dominant 56 |
|
Upslanted palpebral fissure, Seizure, Myoclonus, Ptosis |
OMIM:617854 |
Dworschak-Punetha Neurodevelopmental Syndrome |
|
Ptosis, Seizure, Sparse lateral eyebrow |
OMIM:619955 |
Orthostatic Hypotension 1 |
|
Seizure, Orthostatic hypotension, Ptosis |
OMIM:223360 |
Combined Oxidative Phosphorylation Deficiency 24 |
|
Seizure, Status epilepticus, Optic atrophy, Ptosis |
OMIM:616239 |
Meckel Syndrome, Type 10 |
|
Narrow palpebral fissure, Epicanthus, Seizure, Ptosis |
OMIM:614175 |
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies |
|
Epicanthus, Sparse eyebrow, Synophrys, Upslanted palpebral fissure, Seizure, Downslanted palpebra... |
OMIM:620098 |
Xeroderma Pigmentosum Variant |
|
Dermal atrophy |
ORPHA:90342 |
Weaver Syndrome |
|
Inguinal hernia, Camptodactyly, Umbilical hernia, Joint contracture of the hand, Polyphagia |
OMIM:277590 |
Gangliocytoma |
|
Polyphagia |
ORPHA:251937 |
Warburg Micro Syndrome 4 |
|
Decreased motor nerve conduction velocity, Optic atrophy, Seizure, Status epilepticus, Ptosis |
OMIM:615663 |
Noonan Syndrome 5 |
|
Epicanthus, Large for gestational age, Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:611553 |
Intellectual Disability-Developmental Delay-Contractures Syndrome |
|
Ptosis |
ORPHA:3454 |
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome |
|
Ptosis |
ORPHA:2868 |
Lipodystrophy, Congenital Generalized, Type 1 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:608594 |
Shashi-Pena Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Seizure, Long eyelashes, Febrile seizure (within th... |
OMIM:617190 |
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome |
|
Ptosis |
ORPHA:1067 |
Pontine Tegmental Cap Dysplasia |
|
Seizure, Failure to thrive, Facial palsy, Ptosis |
OMIM:614688 |
Blepharoptosis-Myopia-Ectopia Lentis Syndrome |
|
Palpebral edema, Ptosis |
ORPHA:1259 |
Cardiofaciocutaneous Syndrome 2 |
|
Absent eyebrow, Ptosis |
OMIM:615278 |
Myasthenic Syndrome, Congenital, 22 |
|
Ptosis |
OMIM:616224 |
Myopathy, Centronuclear, 2 |
|
Facial palsy, Ptosis |
OMIM:255200 |
Noonan Syndrome 13 |
|
Epicanthus, Generalized-onset seizure, Highly arched eyebrow, Infantile spasms, Almond-shaped pal... |
OMIM:619087 |
Prader-Willi Syndrome |
|
Feeding difficulties in infancy, Polyphagia, Self-injurious behavior, Attention deficit hyperacti... |
OMIM:176270 |
Multiple System Atrophy 1, Susceptibility To |
|
Anhidrosis, Orthostatic hypotension, Hypohidrosis, Abnormal autonomic nervous system physiology, ... |
OMIM:146500 |
Erdheim-Chester Disease |
|
Nausea and vomiting, Polydipsia, Abdominal pain |
ORPHA:35687 |
Oculopharyngodistal Myopathy 3 |
|
Ptosis |
OMIM:619473 |
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia |
|
Failure to thrive, Myoclonus, Ptosis |
OMIM:560000 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Thin skin |
OMIM:266920 |
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome |
|
Ptosis |
ORPHA:2064 |
Helsmoortel-Van Der Aa Syndrome |
|
Thin skin |
OMIM:615873 |
Joubert Syndrome 8 |
|
Optic disc pallor, Obesity, Ptosis |
OMIM:612291 |
Birk-Landau-Perez Syndrome |
|
Failure to thrive in infancy, Optic atrophy, Upslanted palpebral fissure, Long eyelashes, Ptosis |
OMIM:617595 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Thin skin |
OMIM:151050 |
Mitochondrial Dna Depletion Syndrome 11 |
|
Facial palsy, Ptosis |
OMIM:615084 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 8 |
|
Optic disc pallor, Failure to thrive, Ptosis |
OMIM:615838 |
Hnf1B-Related Autosomal Dominant Tubulointerstitial Kidney Disease |
|
Abnormality of exocrine pancreas physiology, Pyloric stenosis, Polydipsia |
ORPHA:93111 |
Kyphoscoliotic Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Thin skin |
ORPHA:536545 |
Crouzon Syndrome |
|
Optic atrophy, Conjunctivitis, Ptosis |
ORPHA:207 |
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Seizure, Downslanted palpebral fissures, Thic... |
OMIM:617061 |
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome |
|
Seizure, Optic atrophy, Ptosis |
ORPHA:137898 |
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia |
|
Epicanthus, Obesity, Long eyelashes, Broad lateral eyebrow, Ptosis |
OMIM:608624 |
Crouzon Syndrome-Acanthosis Nigricans Syndrome |
|
Optic atrophy, Ptosis |
ORPHA:93262 |
Congenital Myopathy 1B, Autosomal Recessive |
|
Facial palsy, Ptosis |
OMIM:255320 |
Fetal Trimethadione Syndrome |
|
Epicanthus, Synophrys, Ptosis |
ORPHA:1913 |
Arthrogryposis, Distal, Type 5 |
|
Blepharophimosis, Epicanthus, Ptosis |
OMIM:108145 |
Joubert Syndrome With Oculorenal Defect |
|
Seizure, Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:2318 |
Congenital Myopathy 19 |
|
Ptosis |
OMIM:618578 |
Chromosome 4Q32.1-Q32.2 Triplication Syndrome |
|
Epicanthus, Aganglionic megacolon, Narrow palpebral fissure, Seizure, Downslanted palpebral fissu... |
OMIM:613603 |
Spinocerebellar Ataxia 28 |
|
Ptosis |
OMIM:610246 |
Wieacker-Wolff Syndrome |
|
Upslanted palpebral fissure, Seizure, Facial palsy, Ptosis |
OMIM:314580 |
Dermatoosteolysis, Kirghizian Type |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:1657 |
Keipert Syndrome |
|
Epicanthus, Ptosis |
ORPHA:2662 |
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Optic atrophy, Seizure, Ptosis |
ORPHA:457193 |
Joubert Syndrome With Renal Defect |
|
Seizure, Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:220497 |
2P15P16.1 Microdeletion Syndrome |
|
Epicanthus, Telecanthus, Facial palsy, Optic nerve hypoplasia, Sparse eyebrow, Optic atrophy, Lon... |
ORPHA:261349 |
Lipodystrophy, Congenital Generalized, Type 2 |
|
Reduced subcutaneous adipose tissue, Lipodystrophy, Reduced intraabdominal adipose tissue, Reduce... |
OMIM:269700 |
Auriculocondylar Syndrome 2A |
|
Ptosis |
OMIM:614669 |
Xia-Gibbs Syndrome |
|
Upslanted palpebral fissure, Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:615829 |
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature |
|
Seizure, Optic atrophy, Ptosis |
OMIM:609037 |
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2 |
|
Ptosis |
OMIM:608423 |
Cerebral Creatine Deficiency Syndrome 1 |
|
Seizure, Failure to thrive, Aganglionic megacolon, Ptosis |
OMIM:300352 |
Juvenile Nephropathic Cystinosis |
|
Polydipsia, Vomiting, Poor appetite, Feeding difficulties |
ORPHA:411634 |
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome |
|
Upslanted palpebral fissure, Epicanthus inversus, Highly arched eyebrow, Ptosis |
ORPHA:2988 |
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Telecanthus, Ptosis |
ORPHA:1778 |
Thrombocytopenia, Paris-Trousseau Type |
|
Ptosis |
OMIM:188025 |
Gitelman Syndrome |
|
Nausea and vomiting, Salt craving, Abdominal pain, Diarrhea, Constipation, Polydipsia, Chondrocal... |
ORPHA:358 |
Autosomal Dominant Optic Atrophy, Classic Form |
|
Temporal optic disc pallor, Seizure, Optic atrophy, Ptosis |
ORPHA:98673 |
Joubert Syndrome |
|
Seizure, Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:475 |
Spinocerebellar Ataxia-Dysmorphism Syndrome |
|
Epicanthus, Optic atrophy, Ptosis |
ORPHA:1185 |
Ophthalmoplegia, External, With Rib And Vertebral Anomalies |
|
Ptosis |
OMIM:618155 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2 |
|
Bilateral ptosis, Ptosis |
OMIM:616479 |
Loeys-Dietz Syndrome |
|
Atypical scarring of skin, Thin skin, Striae distensae |
ORPHA:60030 |
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27 |
|
Ptosis |
OMIM:619566 |
Proximal Renal Tubular Acidosis |
|
Malabsorption, Diarrhea, Enamel hypomineralization, Vomiting, Polydipsia |
ORPHA:47159 |
Amyloidosis, Hereditary, Transthyretin-Related |
|
Seizure, Abnormal autonomic nervous system physiology, Orthostatic hypotension due to autonomic d... |
OMIM:105210 |
Chromosome 2P16.1-P15 Deletion Syndrome |
|
Telecanthus, Epicanthus, Optic nerve hypoplasia, Blepharophimosis, Downslanted palpebral fissures... |
OMIM:612513 |
Congenital Myasthenic Syndromes With Glycosylation Defect |
|
Facial palsy, Ptosis |
ORPHA:353327 |
22Q11.2 Duplication Syndrome |
|
Seizure, Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:1727 |
Dystonia 34, Myoclonic |
|
Myoclonus, Ptosis |
OMIM:619724 |
Mitochondrial Dna-Related Progressive External Ophthalmoplegia |
|
Ptosis |
ORPHA:663 |
Epidermolysis Bullosa Simplex With Pyloric Atresia |
|
Aplasia cutis congenita on trunk or limbs, Scarring alopecia of scalp, Skin erosion, Atrophic sca... |
ORPHA:158684 |
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome |
|
Seizure, Epicanthus, Optic atrophy, Ptosis |
OMIM:220500 |
Inclusion Body Myopathy And Brain White Matter Abnormalities |
|
Ptosis |
OMIM:619733 |
Waardenburg Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Synophrys, Ptosis |
ORPHA:3440 |
Fountain Syndrome |
|
Epicanthus, Synophrys, Seizure, Thick eyebrow, Ptosis |
ORPHA:3219 |
Noonan Syndrome 4 |
|
Epicanthus, Large for gestational age, Sparse eyebrow, Bilateral ptosis, Downslanted palpebral fi... |
OMIM:610733 |
Cushing Disease |
|
Striae distensae, Thin skin, Skin ulcer |
ORPHA:96253 |
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy |
|
Seizure, Failure to thrive, Optic atrophy, Ptosis |
ORPHA:436271 |
X-Linked Acrogigantism |
|
Abdominal distention, Polyphagia |
ORPHA:300373 |
Insulin-Like Growth Factor I Deficiency |
|
Ptosis, Decreased body weight |
OMIM:608747 |
Takenouchi-Kosaki Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Sei... |
OMIM:616737 |
Oculocerebrocutaneous Syndrome |
|
Skin tags, Preauricular skin tag, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1647 |
Leukodystrophy, Hypomyelinating, 20 |
|
Ptosis |
OMIM:619071 |
Ablepharon Macrostomia Syndrome |
|
Thin skin |
ORPHA:920 |
Joubert Syndrome 3 |
|
Epicanthus, Highly arched eyebrow, Ptosis |
OMIM:608629 |
Autosomal Recessive Multiple Pterygium Syndrome |
|
Epicanthus, Telecanthus, Multiple pterygia, Abnormal eyelid morphology, Antecubital pterygium, Po... |
ORPHA:2990 |
Oculocerebrocutaneous Syndrome |
|
Focal dermal aplasia/hypoplasia |
OMIM:164180 |
Distal Duplication 6P |
|
Abnormal eyelash morphology, Blepharophimosis, Ptosis |
ORPHA:1745 |
9Q21.13 Microdeletion Syndrome |
|
Long palpebral fissure, Seizure, Ptosis |
ORPHA:531151 |
Noonan Syndrome 9 |
|
Sparse eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:616559 |
Acrofacial Dysostosis, Palagonia Type |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:1787 |
Myasthenic Syndrome, Congenital, 14 |
|
Ptosis |
OMIM:616228 |
Wolfram Syndrome 1 |
|
Seizure, Optic atrophy, Ptosis |
OMIM:222300 |
Autosomal Recessive Polycystic Kidney Disease |
|
Gastrointestinal hemorrhage, Cholangiocarcinoma, Esophageal varix, Feeding difficulties, Fat mala... |
ORPHA:731 |
Combined Oxidative Phosphorylation Defect Type 7 |
|
Facial diplegia, Failure to thrive, Optic atrophy, Ptosis |
ORPHA:254930 |
Brain-Lung-Thyroid Syndrome |
|
Hyperactivity, Abnormal drinking behavior, Compulsive behaviors, Abnormal eating behavior |
ORPHA:209905 |
Frontonasal Dysplasia 1 |
|
Epicanthus, Ptosis |
OMIM:136760 |
Flynn-Aird Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:2047 |
Kury-Isidor Syndrome |
|
Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:619762 |
Aarskog-Scott Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:915 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5 |
|
Ptosis |
OMIM:618098 |
Joubert Syndrome With Ocular Defect |
|
Seizure, Aganglionic megacolon, Highly arched eyebrow, Ptosis |
ORPHA:220493 |
Curry-Jones Syndrome |
|
Aplasia/Hypoplasia of the skin, Hypopigmented skin patches |
ORPHA:1553 |
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency |
|
Upslanted palpebral fissure, Epicanthus, Horizontal eyebrow, Ptosis |
ORPHA:369891 |
Arima Syndrome |
|
Polydipsia, Esophageal varix |
OMIM:243910 |
Atypical Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer |
ORPHA:79474 |
Pde4D Haploinsufficiency Syndrome |
|
Obesity, Narrow palpebral fissure, Seizure, Long palpebral fissure, Ptosis |
ORPHA:439822 |
Myasthenic Syndrome, Congenital, 24, Presynaptic |
|
Ptosis |
OMIM:618198 |
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome |
|
Sparse eyebrow, Downslanted palpebral fissures, Lacrimal duct stenosis, Ptosis |
ORPHA:73246 |
Coach Syndrome 3 |
|
Ptosis |
OMIM:619113 |
Oculopharyngodistal Myopathy 4 |
|
Ptosis |
OMIM:619790 |
Prolidase Deficiency |
|
Febrile seizure (within the age range of 3 months to 6 years), Failure to thrive, Ptosis |
OMIM:170100 |
Isolated Osteopoikilosis |
|
Keloids, Addictive alcohol use |
ORPHA:166119 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1 |
|
Bilateral ptosis, Optic atrophy, Facial palsy, Ptosis |
OMIM:258450 |
Intellectual Developmental Disorder, Autosomal Dominant 57 |
|
Epicanthus, Telecanthus, Upslanted palpebral fissure, Seizure, Blepharophimosis, Failure to thriv... |
OMIM:618050 |
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1 |
|
Long palpebral fissure, Seizure, Ptosis |
OMIM:603387 |
Nager Syndrome |
|
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... |
ORPHA:245 |
Bartter Syndrome, Type 2, Antenatal |
|
Diarrhea, Vomiting, Constipation, Polydipsia, Chondrocalcinosis |
OMIM:241200 |
Acrofrontofacionasal Dysostosis |
|
Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1784 |
Postsynaptic Congenital Myasthenic Syndromes |
|
Facial palsy, Ptosis |
ORPHA:98913 |
Microcephaly, Epilepsy, And Diabetes Syndrome 1 |
|
Generalized-onset seizure, Bilateral tonic-clonic seizure, Bilateral tonic-clonic seizure with fo... |
OMIM:614231 |
Mesomelia-Synostoses Syndrome |
|
Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2496 |
Weiss-Kruszka Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:618619 |
Goldberg-Shprintzen Syndrome |
|
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Downslanted palpebral fissu... |
OMIM:609460 |
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus |
|
Lacrimal gland aplasia, Telecanthus, Ectropion, Duplicated lacrimal punctum, Highly arched eyebro... |
ORPHA:572333 |
Joubert Syndrome 14 |
|
Epicanthus, Highly arched eyebrow, Optic atrophy, Downslanted palpebral fissures, Ptosis |
OMIM:614424 |
Oculogastrointestinal Muscular Dystrophy |
|
Cachexia, Ptosis |
ORPHA:1876 |
Richieri-Costa/Guion-Almeida Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
OMIM:268850 |
Acrofrontofacionasal Dysostosis 1 |
|
Long eyebrows, Optic atrophy, Seizure, Long eyelashes, S-shaped palpebral fissures, Ptosis |
OMIM:201180 |
Mitochondrial Complex Iv Deficiency, Nuclear Type 1 |
|
Seizure, Failure to thrive, Optic atrophy, Ptosis |
OMIM:220110 |
Pseudohypoparathyroidism Type 1C |
|
Abdominal symptom, Enamel hypoplasia, Polyphagia |
ORPHA:79444 |
Microbrachycephaly-Ptosis-Cleft Lip Syndrome |
|
Ptosis |
ORPHA:2511 |
Cystinosis, Nephropathic |
|
Exocrine pancreatic insufficiency, Polydipsia, Dysphagia, Oral-pharyngeal dysphagia |
OMIM:219800 |
Ruvalcaba Syndrome |
|
Seizure, Downslanted palpebral fissures, Ptosis |
ORPHA:3121 |
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome |
|
Downslanted palpebral fissures, Facial palsy, Ptosis |
ORPHA:3068 |
Congenital Myopathy 5 With Cardiomyopathy |
|
Ptosis |
OMIM:611705 |
Cardiofaciocutaneous Syndrome 1 |
|
Absent eyebrow, Epicanthus, Absent eyelashes, Optic nerve dysplasia, Hyperhidrosis, Seizure, Palp... |
OMIM:115150 |
Joubert Syndrome 37 |
|
Obesity, Ptosis |
OMIM:619185 |
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities |
|
Nail-biting, Aggressive behavior, Hair-pulling, Polyphagia, Self-injurious behavior, Fixated inte... |
OMIM:620330 |
Buratti-Harel Syndrome |
|
Epicanthus, Sparse medial eyebrow, Downslanted palpebral fissures, Ptosis |
OMIM:619314 |
Machado-Joseph Disease |
|
Abnormal autonomic nervous system physiology, Ptosis |
OMIM:109150 |
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency |
|
Seizure, Myoclonus, Ptosis |
ORPHA:13 |
Juberg-Hayward Syndrome |
|
Abnormal eyebrow morphology, Highly arched eyebrow, Ptosis |
ORPHA:2319 |
Beck-Fahrner Syndrome |
|
Seizure, Lacrimal duct stenosis, Ptosis |
OMIM:618798 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3 |
|
Seizure, Ptosis |
OMIM:609286 |
Carey-Fineman-Ziter Syndrome 1 |
|
Epicanthus, Facial palsy, Lagophthalmos, Seizure, Failure to thrive, Downslanted palpebral fissur... |
OMIM:254940 |
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development |
|
Telecanthus, Small for gestational age, Seizure, Long eyelashes, Blepharophimosis, Ptosis |
OMIM:604314 |
X-Linked Mandibulofacial Dysostosis |
|
Epicanthus, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Ptosis |
ORPHA:1131 |
Pyruvate Dehydrogenase E2 Deficiency |
|
Ptosis |
OMIM:245348 |
Microcephalic Primordial Dwarfism, Montreal Type |
|
Ptosis |
OMIM:210700 |
20Q11.2 Microduplication Syndrome |
|
Epicanthus, Palpebral edema, Seizure, Abnormal shape of the palpebral fissure, Downslanted palpeb... |
ORPHA:363659 |
Craniopharyngioma |
|
Nausea and vomiting, Polyphagia |
ORPHA:54595 |
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1 |
|
Thin skin |
OMIM:129900 |
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome |
|
Blepharophimosis, Seizure, Ptosis |
ORPHA:2031 |
Wiedemann-Steiner Syndrome |
|
Epicanthus, Telecanthus, Thick eyebrow, Synophrys, Seizure, Long eyelashes, Failure to thrive, Sh... |
ORPHA:319182 |
Herpes Simplex Virus Encephalitis |
|
Nausea and vomiting, Addictive alcohol use |
ORPHA:1930 |
Restrictive Dermopathy 1 |
|
Skin erosion, Thin skin |
OMIM:275210 |
Schwartz-Jampel Syndrome, Type 1 |
|
Blepharophimosis, Ptosis, Narrow palpebral fissure, Long eyelashes in irregular rows |
OMIM:255800 |
Emanuel Syndrome |
|
Hooded eyelid, Upslanted palpebral fissure, Seizure, Failure to thrive, Ptosis |
ORPHA:96170 |
Frontotemporal Dementia With Motor Neuron Disease |
|
Ptosis |
ORPHA:275872 |
Ohdo Syndrome, X-Linked |
|
Epicanthus, Sparse eyebrow, Seizure, Decreased body weight, Blepharophimosis, Downslanted palpebr... |
OMIM:300895 |
Lyme Disease |
|
Skin nodule, Dermal atrophy |
ORPHA:91546 |
Six2-Related Frontonasal Dysplasia |
|
Epicanthus inversus, Small for gestational age, Ptosis |
ORPHA:488437 |
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect |
|
Facial diplegia, Ptosis |
ORPHA:521411 |
Warburg-Cinotti Syndrome |
|
Thin skin |
OMIM:618175 |
Xeroderma Pigmentosum, Complementation Group A |
|
Dermal atrophy, Erythematous papule, Hypermelanotic macule, Verrucous epidermal nevus |
OMIM:278700 |
Alexander Disease |
|
Facial palsy, Hyperhidrosis, Seizure, Abnormal autonomic nervous system physiology, Failure to th... |
ORPHA:58 |
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures |
|
Telecanthus, Bilateral tonic-clonic seizure, Infantile spasms, Generalized non-motor (absence) se... |
OMIM:620224 |
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type) |
|
Seizure, Facial palsy, Ptosis |
OMIM:607483 |
Marden-Walker Syndrome |
|
Blepharophimosis, Seizure, Epicanthus, Ptosis |
OMIM:248700 |
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism |
|
Ptosis |
OMIM:616549 |
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects |
|
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Synophrys, Nasolacrimal duct ob... |
OMIM:610759 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin skin |
OMIM:264090 |
1P36 Deletion Syndrome |
|
Camptodactyly of finger, Feeding difficulties in infancy, Abnormal repetitive mannerisms, Pyloric... |
ORPHA:1606 |
Intellectual Developmental Disorder, Autosomal Dominant 29 |
|
Generalized-onset seizure, Synophrys, Obesity, Seizure, Febrile seizure (within the age range of ... |
OMIM:616078 |
Pseudohypoparathyroidism Type 1A |
|
Abdominal symptom, Enamel hypoplasia, Polyphagia |
ORPHA:79443 |
Cardiac Valvular Dysplasia, X-Linked |
|
Ptosis |
OMIM:314400 |
Myasthenic Syndrome, Congenital, 20, Presynaptic |
|
Facial palsy, Ptosis |
OMIM:617143 |
Phelan-Mcdermid Syndrome |
|
Epicanthus, Palpebral edema, Hypohidrosis, Seizure, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:606232 |
Coach Syndrome 1 |
|
Optic disc pallor, Seizure, Ptosis |
OMIM:216360 |
Monosomy 18P |
|
Epicanthus, Ptosis |
ORPHA:1598 |
Polyvalvular Heart Disease Syndrome |
|
Ptosis |
ORPHA:228410 |
Bartter Syndrome, Type 4A, Neonatal, With Sensorineural Deafness |
|
Polydipsia |
OMIM:602522 |
Congenital Disorder Of Glycosylation, Type 2V |
|
Narrow palpebral fissure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:619493 |
Jackson-Weiss Syndrome |
|
Ptosis |
ORPHA:1540 |
Lipodystrophy Due To Peptidic Growth Factors Deficiency |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1979 |
Acquired Aneurysmal Subarachnoid Hemorrhage |
|
Addictive alcohol use, Vomiting, Nausea |
ORPHA:90065 |
Myasthenia Gravis |
|
Facial palsy, Ptosis |
OMIM:254200 |
Cardiofaciocutaneous Syndrome |
|
Epicanthus, Failure to thrive in infancy, Abnormal eyelash morphology, Optic atrophy, Sparse or a... |
ORPHA:1340 |
Wieacker-Wolff Syndrome, Female-Restricted |
|
Facial palsy, Ptosis |
OMIM:301041 |
Epidermolysis Bullosa, Lethal Acantholytic |
|
Skin erosion, Aplasia cutis congenita |
OMIM:609638 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
|
Seizure, Abnormal autonomic nervous system physiology, Shallow orbits, Long palpebral fissure, Fa... |
ORPHA:453499 |
Ophthalmoplegia, Familial Static |
|
Ptosis |
OMIM:165000 |
Okur-Chung Neurodevelopmental Syndrome |
|
Epicanthus, Highly arched eyebrow, Synophrys, Epicanthus inversus, Failure to thrive, Atonic seiz... |
OMIM:617062 |
Blepharophimosis, Ptosis, And Epicanthus Inversus |
|
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Ptosis |
OMIM:110100 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1 |
|
Upslanted palpebral fissure, Seizure, Ptosis |
OMIM:619758 |
Acute Lung Injury |
|
Addictive alcohol use |
ORPHA:178320 |
Short Stature And Facioauriculothoracic Malformations |
|
Ptosis |
OMIM:609654 |
Lathosterolosis |
|
Epicanthus, Seizure, Myoclonus, Failure to thrive, Downslanted palpebral fissures, Ptosis |
ORPHA:46059 |
Hypermobile Ehlers-Danlos Syndrome |
|
Atypical scarring of skin, Subcutaneous nodule, Thin skin |
ORPHA:285 |
Koolen-De Vries Syndrome |
|
Epicanthus, Small for gestational age, Upslanted palpebral fissure, Seizure, Blepharophimosis, Fa... |
OMIM:610443 |
Joubert Syndrome 7 |
|
Ptosis |
OMIM:611560 |
Jacobsen Syndrome |
|
Epicanthus, Telecanthus, Abnormal eyelash morphology, Optic atrophy, Nasolacrimal duct obstructio... |
OMIM:147791 |
Codas Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1458 |
Acute Promyelocytic Leukemia |
|
Stomatitis, Addictive alcohol use, Anorexia, Abdominal pain |
ORPHA:520 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Seizure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:616449 |
Subacute Cutaneous Lupus Erythematosus |
|
Annular cutaneous lesion, Dermal atrophy |
ORPHA:163525 |
Brain Dopamine-Serotonin Vesicular Transport Disease |
|
Ptosis, Hyperhidrosis |
ORPHA:352649 |
Congenital Myopathy 22A, Classic |
|
Bilateral ptosis, Synophrys, Downslanted palpebral fissures, Ptosis |
OMIM:620351 |
Koolen-De Vries Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Seizure, Blepharophimosis, Ptosis |
ORPHA:96169 |
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome |
|
Ptosis |
ORPHA:352447 |
Ablepharon-Macrostomia Syndrome |
|
Thin skin |
OMIM:200110 |
Axial Spondylometaphyseal Dysplasia |
|
Optic atrophy, Ptosis |
ORPHA:168549 |
Lymphedema-Hypoparathyroidism Syndrome |
|
Telecanthus, Ptosis |
OMIM:247410 |
Fetal Alcohol Syndrome |
|
Epicanthus, Telecanthus, Ptosis |
ORPHA:1915 |
Combined Oxidative Phosphorylation Deficiency 12 |
|
Seizure, Failure to thrive, Ptosis |
OMIM:614924 |
Autosomal Dominant Centronuclear Myopathy |
|
Ptosis, Large for gestational age |
ORPHA:169189 |
Lipodystrophy, Familial Partial, Type 7 |
|
Thin skin |
OMIM:606721 |
Spinocerebellar Ataxia Type 36 |
|
Limb myoclonus, Ptosis |
ORPHA:276198 |
3Mc Syndrome |
|
Telecanthus, Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral ... |
ORPHA:293843 |
Ververi-Brady Syndrome |
|
Upslanted palpebral fissure, Ptosis |
OMIM:617982 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 6 |
|
Failure to thrive, Ptosis |
OMIM:615453 |
Chromosome 18P Deletion Syndrome |
|
Epicanthus, Small for gestational age, Ptosis |
OMIM:146390 |
Acrofrontofacionasal Dysostosis 2 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:239710 |
Reni Syndrome |
|
Seizure, Ptosis |
OMIM:617575 |
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism |
|
Seizure, Ptosis |
OMIM:300845 |
Brown-Vialetto-Van Laere Syndrome 1 |
|
Cranial nerve motor loss, Facial palsy, Ptosis |
OMIM:211530 |
Typical Nemaline Myopathy |
|
Facial diplegia, Facial palsy, Ptosis |
ORPHA:171436 |
Chromosome 17P13.1 Deletion Syndrome |
|
Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Narrow palpebral fissure, Downslanted ... |
OMIM:613776 |
Craniosynostosis 6 |
|
Ptosis |
OMIM:616602 |
Wiedemann-Rautenstrauch Syndrome |
|
Thin skin |
ORPHA:3455 |
Carey-Fineman-Ziter Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Facial palsy, Ptosis |
ORPHA:1358 |
Autosomal Recessive Spastic Paraplegia Type 77 |
|
Seizure, Myoclonus, Ptosis |
ORPHA:466722 |
Microcephaly-Cervical Spine Fusion Anomalies Syndrome |
|
Ptosis |
ORPHA:2522 |
Myopathy, Myofibrillar, 8 |
|
Ptosis |
OMIM:617258 |
Dysosteosclerosis |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1782 |
2Q31.1 Microdeletion Syndrome |
|
Epicanthus, Synophrys, Optic disc coloboma, Seizure, Downslanted palpebral fissures, Short palpeb... |
ORPHA:251014 |
Giant Cell Arteritis |
|
Ptosis, Weight loss, Optic atrophy, Hyperhidrosis |
ORPHA:397 |
Congenital Multicore Myopathy With External Ophthalmoplegia |
|
Facial diplegia, Facial palsy, Ptosis |
ORPHA:98905 |
Aarskog-Scott Syndrome |
|
Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:305400 |
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome |
|
Cachexia, Ptosis |
ORPHA:3217 |
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome |
|
Epicanthus, Obesity, Seizure, Failure to thrive, Downslanted palpebral fissures, Thick eyebrow, P... |
ORPHA:369950 |
Char Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:46627 |
Fetal Hydantoin Syndrome |
|
Epicanthus, Ptosis |
ORPHA:1912 |
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2 |
|
Ptosis |
OMIM:615911 |
Glycine Encephalopathy With Normal Serum Glycine |
|
Optic atrophy, Long eyelashes, Ptosis |
OMIM:617301 |
Microcephaly-Lymphedema-Chorioretinopathy Syndrome |
|
Epicanthus, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash... |
ORPHA:2526 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Aggressive behavior, Feeding difficulties in infancy, Dysphagia, Gastroe... |
OMIM:607872 |
Aromatic L-Amino Acid Decarboxylase Deficiency |
|
Blepharospasm, Ptosis, Myoclonus, Hyperhidrosis |
OMIM:608643 |
Distal Deletion 3P |
|
Epicanthus, Telecanthus, Seizure, Blepharophimosis, Ptosis |
ORPHA:1620 |
Trichohepatoneurodevelopmental Syndrome |
|
Epicanthus, Ectropion, Almond-shaped palpebral fissure, Synophrys, Seizure, Long eyelashes, Decre... |
OMIM:618268 |
Saethre-Chotzen Syndrome |
|
Epicanthus, Optic atrophy, Blepharospasm, Seizure, Ptosis |
ORPHA:794 |
Aniridia-Absent Patella Syndrome |
|
Ptosis |
ORPHA:1069 |
Joubert Syndrome 1 |
|
Optic disc pallor, Epicanthus, Hemifacial spasm, Highly arched eyebrow, Optic disc coloboma, Ptosis |
OMIM:213300 |
Sifrim-Hitz-Weiss Syndrome |
|
Upslanted palpebral fissure, Epicanthus, Short palpebral fissure, Ptosis |
OMIM:617159 |
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome |
|
Seizure, Myoclonus, Ptosis |
ORPHA:70595 |
Proboscis Lateralis |
|
Abnormal eyebrow morphology, Epicanthus, Abnormal nasolacrimal system morphology, Abnormal locati... |
ORPHA:141099 |
Kearns-Sayre Syndrome |
|
Seizure, Ptosis |
OMIM:530000 |
Galloway-Mowat Syndrome 1 |
|
Epicanthus, Small for gestational age, Optic atrophy, Seizure, Ptosis |
OMIM:251300 |
Myasthenic Syndrome, Congenital, 19 |
|
Facial palsy, Ptosis |
OMIM:616720 |
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects |
|
Ptosis |
OMIM:606220 |
Malignant Atrophic Papulosis |
|
Ptosis, Seizure, Weight loss |
ORPHA:679 |
Cushing Syndrome Due To Ectopic Acth Secretion |
|
Striae distensae, Thin skin, Skin ulcer |
ORPHA:99889 |
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism |
|
Long eyelashes, Short palpebral fissure, Highly arched eyebrow, Ptosis |
OMIM:615866 |
17Q24.2 Microdeletion Syndrome |
|
Failure to thrive in infancy, Synophrys, Truncal obesity, Seizure, Downslanted palpebral fissures... |
ORPHA:529962 |
Acrocraniofacial Dysostosis |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:949 |
Adams-Oliver Syndrome |
|
Aplasia cutis congenita, Aplasia/Hypoplasia of the skin |
ORPHA:974 |
Trisomy 17P |
|
Downslanted palpebral fissures, Broad eyebrow, Ptosis |
ORPHA:261290 |
Acromelic Frontonasal Dysplasia |
|
Seizure, Telecanthus, Ptosis |
ORPHA:1827 |
Cenani-Lenz Syndrome |
|
Ectropion, Downslanted palpebral fissures, Ptosis |
ORPHA:3258 |
Isolated Complex I Deficiency |
|
Optic disc pallor, Failure to thrive, Optic neuropathy, Ptosis |
ORPHA:2609 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Conjunctivitis, Ptosis |
ORPHA:33001 |
Leigh Syndrome |
|
Infantile spasms, Optic atrophy, Seizure, Status epilepticus, Failure to thrive, Ptosis |
ORPHA:506 |
Visceral Myopathy, Familial, With External Ophthalmoplegia |
|
Ptosis |
OMIM:277320 |
Mucopolysaccharidosis, Type Ii |
|
Papilledema, Seizure, Ptosis |
OMIM:309900 |
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome |
|
Dermal atrophy |
ORPHA:69735 |
Multiple Pterygium Syndrome, Escobar Variant |
|
Epicanthus, Bilateral ptosis, Neck pterygia, Antecubital pterygium, Popliteal pterygium, Intercru... |
OMIM:265000 |
Frontofacionasal Dysplasia |
|
Telecanthus, Ankyloblepharon, Eyelid coloboma, S-shaped palpebral fissures, Blepharophimosis, Abs... |
OMIM:229400 |
Kbg Syndrome |
|
Telecanthus, Synophrys, Seizure, Long palpebral fissure, Downslanted palpebral fissures, Thick ey... |
OMIM:148050 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant |
|
Ptosis, Hyperhidrosis |
OMIM:167100 |
Microphthalmia, Isolated, With Coloboma 9 |
|
Narrow palpebral fissure, Ptosis |
OMIM:615145 |
Intestinal Botulism |
|
Ptosis |
ORPHA:178481 |
Porphyria Cutanea Tarda |
|
Addictive alcohol use, Scarring, Corneal scarring, Hepatocellular carcinoma |
ORPHA:101330 |
Intellectual Developmental Disorder, Autosomal Recessive 65 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:618109 |
Arthrogryposis, Distal, Type 1A |
|
Ptosis |
OMIM:108120 |
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome |
|
Ptosis |
ORPHA:2824 |
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A |
|
Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt... |
OMIM:178110 |
Arthrogryposis, Distal, Type 5D |
|
Ptosis, Highly arched eyebrow, Lagophthalmos |
OMIM:615065 |
Dyskeratosis Congenita |
|
Macule, Aplasia/Hypoplasia of the skin, Hypermelanotic macule, Hypopigmented skin patches, Skin u... |
ORPHA:1775 |
Toxin-Mediated Infectious Botulism |
|
Ptosis |
ORPHA:230800 |
Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:3134 |
Congenital Disorder Of Deglycosylation 1 |
|
Anhidrosis, Hyperhidrosis, Myoclonic seizure, Seizure, Myoclonus, Decreased body weight, Decrease... |
OMIM:615273 |
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome |
|
Highly arched eyebrow, Sparse eyebrow, Synophrys, Optic atrophy, Upslanted palpebral fissure, Sei... |
ORPHA:487796 |
Cerebrooculonasal Syndrome |
|
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Sparse eyebrow, Seizure, Ptosis |
OMIM:605627 |
3Mc Syndrome 1 |
|
Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Synophrys, Blepharophimosis, Epi... |
OMIM:257920 |
X-Linked Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Ptosis |
ORPHA:98863 |
Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Ptosis |
ORPHA:261 |
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy |
|
Obesity, Ptosis |
ORPHA:98853 |
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4 |
|
Telecanthus, Multifocal seizures, Myoclonic seizure, Hooded upper eyelid, Ptosis |
OMIM:618548 |
Aase-Smith Syndrome I |
|
Ptosis |
OMIM:147800 |
Vascular Ehlers-Danlos Syndrome |
|
Macule, Subcutaneous nodule, Cigarette-paper scars, Melanocytic nevus, Thin skin |
ORPHA:286 |
Orofaciodigital Syndrome Xvi |
|
Short palpebral fissure, Ptosis |
OMIM:617563 |
Holoprosencephaly |
|
Epicanthus, Failure to thrive in infancy, Highly arched eyebrow, Synophrys, Optic atrophy, Upslan... |
ORPHA:2162 |
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies |
|
Epicanthus, Multifocal seizures, Synophrys, Obesity, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:301066 |
Werner Syndrome |
|
Aplasia/Hypoplasia of the skin, Skin ulcer |
ORPHA:902 |
Joubert Syndrome With Hepatic Defect |
|
Seizure, Optic disc coloboma, Highly arched eyebrow, Ptosis |
ORPHA:1454 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5 |
|
Ptosis |
OMIM:613077 |
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence |
|
Blepharophimosis, Telecanthus, Short palpebral fissure, Ptosis |
OMIM:217980 |
Muenke Syndrome |
|
Ptosis |
ORPHA:53271 |
Ehlers-Danlos Syndrome, Classic-Like, 2 |
|
Bilateral ptosis, Thin eyebrow, Ptosis |
OMIM:618000 |
Cardiac, Facial, And Digital Anomalies With Developmental Delay |
|
Seizure, Epicanthus, Optic atrophy, Ptosis |
OMIM:618164 |
Arthrogryposis, Distal, Type 3 |
|
Epicanthus, Ptosis |
OMIM:114300 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type |
|
Small for gestational age, Optic atrophy, Upslanted palpebral fissure, Seizure, Blepharophimosis,... |
OMIM:309590 |
8Q21.11 Microdeletion Syndrome |
|
Blepharophimosis, Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:284160 |
Congenital Myasthenic Syndrome |
|
Frontalis muscle weakness, Seizure, Ptosis |
ORPHA:590 |
Presynaptic Congenital Myasthenic Syndromes |
|
Frontalis muscle weakness, Seizure, Ptosis |
ORPHA:98914 |
Tyshchenko Syndrome |
|
Ptosis |
OMIM:615102 |
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome |
|
Optic atrophy, Downslanted palpebral fissures, Ptosis |
ORPHA:1555 |
Cdags Syndrome |
|
Sparse eyebrow, Ectropion, Sparse eyelashes, Ptosis |
OMIM:603116 |
Acromelic Frontonasal Dysostosis |
|
Telecanthus, Optic nerve hypoplasia, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:603671 |
Refsum Disease, Classic |
|
Ptosis |
OMIM:266500 |
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type |
|
Hypoplastic pilosebaceous units |
OMIM:601345 |
Staphylococcal Necrotizing Pneumonia |
|
Addictive alcohol use |
ORPHA:36238 |
Desmosterolosis |
|
Aplasia/Hypoplasia of the skin, Dermal atrophy |
ORPHA:35107 |
Autoimmune Disease, Multisystem, With Facial Dysmorphism |
|
Failure to thrive in infancy, Ptosis |
OMIM:613385 |
Cree Mental Retardation Syndrome |
|
Downslanted palpebral fissures, Ptosis |
OMIM:606851 |
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy |
|
Facial palsy, Ptosis |
OMIM:619424 |
Congenital Myopathy 17 |
|
Downslanted palpebral fissures, Telecanthus, Failure to thrive in infancy, Ptosis |
OMIM:618975 |
Adams-Oliver Syndrome 5 |
|
Cutis marmorata telangiectatica congenita, Aplasia cutis congenita |
OMIM:616028 |
3Mc Syndrome 3 |
|
Blepharophimosis, Epicanthus inversus, Highly arched eyebrow, Ptosis |
OMIM:248340 |
Chromosome 8Q21.11 Deletion Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:614230 |
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism |
|
Ptosis |
OMIM:212112 |
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy |
|
Optic atrophy, Ptosis |
OMIM:251900 |
Tukel Syndrome |
|
Congenital fibrosis of extraocular muscles, Ptosis |
OMIM:609428 |
Branchio-Oculo-Facial Syndrome |
|
Upslanted palpebral fissure, Nasolacrimal duct obstruction, Ptosis |
ORPHA:1297 |
Synaptic Congenital Myasthenic Syndromes |
|
Bilateral ptosis, Facial palsy, Ptosis |
ORPHA:98915 |
Basel-Vanagaite-Smirin-Yosef Syndrome |
|
Epicanthus, Sparse eyebrow, Seizure, Downslanted palpebral fissures, Ptosis |
ORPHA:464738 |
Arachnoid Cyst |
|
Seizure, Cranial nerve compression, Facial palsy, Ptosis |
ORPHA:2356 |
Spinocerebellar Ataxia 36 |
|
Ptosis |
OMIM:614153 |
Acute Radiation Syndrome |
|
Dermal atrophy, Skin ulcer |
ORPHA:454831 |
Wound Botulism |
|
Ptosis |
ORPHA:178475 |
Kabuki Syndrome |
|
Ptosis, Highly arched eyebrow, Obesity, Seizure, Long eyelashes, Eversion of lateral third of low... |
ORPHA:2322 |
Cutis Marmorata Telangiectatica Congenita |
|
Multiple cafe-au-lait spots, Skin erosion, Aplasia/Hypoplasia of the skin, Blue nevus |
ORPHA:1556 |
Monosomy 22Q13.3 |
|
Epicanthus, Palpebral edema, Obesity, Hypohidrosis, Seizure, Long eyelashes, Thick eyebrow, Ptosis |
ORPHA:48652 |
Mitochondrial Complex I Deficiency, Nuclear Type 1 |
|
Optic disc pallor, Bilateral tonic-clonic seizure, Optic neuropathy, Upslanted palpebral fissure,... |
OMIM:252010 |
Van Maldergem Syndrome 2 |
|
Epicanthus, Narrow palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:615546 |
Gjc2-Related Late-Onset Primary Lymphedema |
|
Ptosis |
ORPHA:568051 |
Lateral Meningocele Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2789 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type |
|
Seizure, Ptosis |
OMIM:309520 |
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures |
|
Epicanthus, Focal-onset seizure, Typical absence seizure, Optic disc coloboma, Obesity, Failure t... |
OMIM:617157 |
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome |
|
Ptosis |
ORPHA:1323 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Sparse eyebrow, Epiblepharon, Downslanted palpebral fissures, Ptosis |
OMIM:617557 |
Van Maldergem Syndrome 1 |
|
Blepharophimosis, Epicanthus, Short palpebral fissure, Ptosis |
OMIM:601390 |
Skin Creases, Congenital Symmetric Circumferential, 2 |
|
Epicanthus, Synophrys, Upslanted palpebral fissure, Seizure, Blepharophimosis, Downslanted palpeb... |
OMIM:616734 |
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form |
|
Skin erosion, Atypical scarring of skin, Nevus, Aplasia cutis congenita, Milia |
ORPHA:89842 |
Rhyns Syndrome |
|
Ptosis |
OMIM:602152 |
Phosphoribosylpyrophosphate Synthetase Superactivity |
|
Downslanted palpebral fissures, Epicanthus, Small for gestational age, Ptosis |
OMIM:300661 |
Au-Kline Syndrome |
|
Lagophthalmos, Shallow orbits, Long palpebral fissure, Failure to thrive, Downslanted palpebral f... |
OMIM:616580 |
Inhalational Botulism |
|
Ptosis |
ORPHA:254504 |
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1 |
|
Epicanthus, Highly arched eyebrow, Large for gestational age, Synophrys, Upslanted palpebral fiss... |
OMIM:213980 |
Xeroderma Pigmentosum, Complementation Group E |
|
Dermal atrophy |
OMIM:278740 |
Kallmann Syndrome |
|
Seizure, Obesity, Ptosis |
ORPHA:478 |
Myasthenia Gravis |
|
Seizure, Ptosis |
ORPHA:589 |
Neutral Lipid Storage Disease With Ichthyosis |
|
Ectropion, Obesity, Ptosis |
ORPHA:98907 |
Cornelia De Lange Syndrome 1 |
|
Highly arched eyebrow, Curly eyelashes, Synophrys, Optic disc coloboma, Optic atrophy, Seizure, L... |
OMIM:122470 |
Oculofaciocardiodental Syndrome |
|
Highly arched eyebrow, Ptosis |
ORPHA:2712 |
3Mc Syndrome 2 |
|
Highly arched eyebrow, Blepharophimosis, Epicanthus inversus, Downslanted palpebral fissures, Ptosis |
OMIM:265050 |
Congenital Fibrosis Of Extraocular Muscles |
|
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Optic nerve hyp... |
ORPHA:45358 |
Koolen-De Vries Syndrome Due To A Point Mutation |
|
Epicanthus, Generalized-onset seizure, Small for gestational age, Focal hemiclonic seizure, Focal... |
ORPHA:363965 |
17Q21.31 Microdeletion Syndrome |
|
Epicanthus, Generalized-onset seizure, Small for gestational age, Focal hemiclonic seizure, Focal... |
ORPHA:363958 |
Charcot-Marie-Tooth Disease Type 4B2 |
|
Decreased distal sensory nerve action potential, Optic atrophy, Ptosis |
ORPHA:99956 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Sparse eyebrow, Seizure, Synophrys, Ptosis |
OMIM:309583 |
Infant Botulism |
|
Keratoconjunctivitis sicca, Ptosis |
ORPHA:178478 |
Oculopharyngodistal Myopathy 1 |
|
Ptosis, Facial palsy, Bilateral ptosis, Weight loss |
OMIM:164310 |
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type |
|
Blepharophimosis, Ptosis |
ORPHA:2728 |
Pfeiffer Syndrome |
|
Ptosis |
ORPHA:710 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1 |
|
Epicanthus, Large for gestational age, Long eyelashes, Failure to thrive, Downslanted palpebral f... |
OMIM:607721 |
Refsum Disease |
|
Ptosis |
ORPHA:773 |
Autosomal Dominant Progressive External Ophthalmoplegia |
|
Facial palsy, Facial diplegia, Seizure, Failure to thrive, Ptosis |
ORPHA:254892 |
Visual Impairment And Progressive Phthisis Bulbi |
|
Ptosis |
OMIM:618283 |
Moebius Syndrome |
|
Epicanthus, Blepharitis, Facial palsy, Ptosis |
ORPHA:570 |
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria |
|
Hyperhidrosis, Seizure, Myoclonus, Failure to thrive, Ptosis |
ORPHA:17 |
Acro-Renal-Ocular Syndrome |
|
Epicanthus, Aganglionic megacolon, Optic disc coloboma, Short palpebral fissure, Ptosis |
ORPHA:959 |
Multiple Pterygium-Malignant Hyperthermia Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:2215 |
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome |
|
Telecanthus, Epicanthus, Bilateral tonic-clonic seizure, Highly arched eyebrow, Large for gestati... |
OMIM:280000 |
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis |
|
Ptosis, Seizure, Myoclonus, Weight loss |
OMIM:607459 |
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:104350 |
Xeroderma Pigmentosum, Variant Type |
|
Dermal atrophy |
OMIM:278750 |
Scarf Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:312830 |
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type) |
|
Ptosis, Slender build, Cachexia, Weight loss |
OMIM:603041 |
Bickerstaff Brainstem Encephalitis |
|
Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Abnor... |
ORPHA:79138 |
Miller Fisher Syndrome |
|
Facial palsy, Ptosis |
ORPHA:98919 |
Lateral Meningocele Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:130720 |
Loeys-Dietz Syndrome 5 |
|
Long palpebral fissure, Downslanted palpebral fissures, Failure to thrive in infancy, Ptosis |
OMIM:615582 |
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type |
|
Epicanthus, Ptosis |
OMIM:616723 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
|
Optic nerve hypoplasia, Typical absence seizure, Hyperhidrosis, Seizure, Shallow orbits, Long pal... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
|
Optic nerve hypoplasia, Typical absence seizure, Hyperhidrosis, Seizure, Shallow orbits, Long pal... |
ORPHA:352665 |
Shprintzen-Goldberg Syndrome |
|
Telecanthus, Failure to thrive, Downslanted palpebral fissures, Ptosis |
ORPHA:2462 |
Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Seizure, Blepharophimosis, Sparse lateral eyebrow |
ORPHA:235 |
Ethylene Glycol Poisoning |
|
Gastritis, Addictive alcohol use, Vomiting, Nausea |
ORPHA:31826 |
Barber-Say Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:1231 |
Congenital Myopathy 13 |
|
Telecanthus, Blepharophimosis, Downslanted palpebral fissures, Short palpebral fissure, Ptosis |
OMIM:255995 |
Lymphedema-Distichiasis Syndrome |
|
Ectropion, Distichiasis, Conjunctivitis, Ptosis |
OMIM:153400 |
Foodborne Botulism |
|
Ptosis |
ORPHA:228371 |
Chilton-Okur-Chung Neurodevelopmental Syndrome |
|
Septo-optic dysplasia, Hooded eyelid, Highly arched eyebrow, Sparse eyebrow, Bilateral ptosis, Sy... |
OMIM:619841 |
Duane Retraction Syndrome |
|
Blepharospasm, Seizure, Blepharophimosis, Short palpebral fissure, Ptosis |
ORPHA:233 |
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1 |
|
Ptosis, Hyperhidrosis |
OMIM:259100 |
Beare-Stevenson Cutis Gyrata Syndrome |
|
Optic atrophy, Downslanted palpebral fissures, Ptosis |
OMIM:123790 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Highly arched eyebrow, Optic atrophy, Seizure, Failure to thrive, Downslanted palpebr... |
ORPHA:280 |
Primary Hepatic Neuroendocrine Carcinoma |
|
Ptosis, Weight loss |
ORPHA:100085 |
Autosomal Recessive Ataxia, Beauce Type |
|
Ptosis |
ORPHA:88644 |
22Q11.2 Deletion Syndrome |
|
Telecanthus, Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Optic atrophy, Obesit... |
ORPHA:567 |
Loeys-Dietz Syndrome 4 |
|
Downslanted palpebral fissures, Ptosis |
OMIM:614816 |
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia |
|
Epicanthus, Highly arched eyebrow, Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:613563 |
Schwartz-Jampel Syndrome |
|
Abnormal eyebrow morphology, Cachexia, Blepharospasm, Distichiasis, Long eyelashes in irregular r... |
ORPHA:800 |
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency |
|
Failure to thrive in infancy, Ptosis |
ORPHA:228426 |
Joubert Syndrome 21 |
|
Seizure, Optic atrophy, Megalopapilla, Ptosis |
OMIM:615636 |
Noonan Syndrome 10 |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:616564 |
Dubowitz Syndrome |
|
Ptosis, Epicanthus, Telecanthus, Blepharophimosis, Short palpebral fissure, Sparse lateral eyebrow |
OMIM:223370 |
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1 |
|
Facial palsy, Ptosis |
OMIM:157640 |
Shprintzen-Goldberg Craniosynostosis Syndrome |
|
Ptosis, Telecanthus, Downslanted palpebral fissures, Shallow orbits |
OMIM:182212 |
Holoprosencephaly 4 |
|
Ptosis |
OMIM:142946 |
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form |
|
Aplasia cutis congenita, Aplasia cutis congenita on trunk or limbs, Milia, Atrophic scars |
ORPHA:79396 |
Combined Oxidative Phosphorylation Deficiency 33 |
|
Ptosis |
OMIM:617713 |
Treacher Collins Syndrome 1 |
|
Sparse lower eyelashes, Lacrimal duct stenosis, Lower eyelid coloboma, Upper eyelid coloboma, Dow... |
OMIM:154500 |
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features |
|
Synophrys, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
OMIM:616728 |
Arboleda-Tham Syndrome |
|
Epicanthus, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Upper eyelid edema, Sei... |
OMIM:616268 |
Vici Syndrome |
|
Seizure, Epicanthus, Failure to thrive, Ptosis |
OMIM:242840 |
Xeroderma Pigmentosum, Complementation Group C |
|
Dermal atrophy |
OMIM:278720 |
Frontorhiny |
|
Epicanthus, Ptosis |
ORPHA:391474 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Aganglionic megacolon, Abnormal eyelash morphology, Optic atrophy, Upslanted palpebra... |
ORPHA:818 |
Non-Functioning Pituitary Adenoma |
|
Seizure, Ptosis |
ORPHA:91349 |
Fanconi Anemia |
|
Epicanthus, Aganglionic megacolon, Abnormal eyelid morphology, Almond-shaped palpebral fissure, W... |
ORPHA:84 |
Jacobsen Syndrome |
|
Epicanthus, Ectropion, Seizure, Eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplas... |
ORPHA:2308 |
Cirrhotic Cardiomyopathy |
|
Addictive alcohol use |
ORPHA:57777 |
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome |
|
Cachexia, Ptosis |
ORPHA:1969 |
Noonan Syndrome 2 |
|
Sparse eyebrow, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:605275 |
Faciocardiomelic Syndrome |
|
Ptosis, Telecanthus, Short eyelashes, Large for gestational age |
OMIM:612731 |
Menke-Hennekam Syndrome 1 |
|
Epicanthus, Telecanthus, Thick eyebrow, Upslanted palpebral fissure, Seizure, Long eyelashes, Ble... |
OMIM:618332 |
Multiple Synostoses Syndrome 1 |
|
Upslanted palpebral fissure, Ptosis |
OMIM:186500 |
Arthrogryposis Multiplex Congenita 5 |
|
Upslanted palpebral fissure, Optic disc pallor, Ptosis |
OMIM:618947 |
14Q22Q23 Microdeletion Syndrome |
|
Optic nerve aplasia, Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:264200 |
Myasthenia, Limb-Girdle, Autoimmune |
|
Ptosis |
OMIM:159400 |
Ayme-Gripp Syndrome |
|
Upslanted palpebral fissure, Seizure, Downslanted palpebral fissures, Broad eyebrow, Ptosis |
OMIM:601088 |
Neurofaciodigitorenal Syndrome |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2673 |
Eec Syndrome |
|
Hypohidrosis, Aplasia/Hypoplasia of the skin, Nevus |
ORPHA:1896 |
Lathosterolosis |
|
Seizure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:607330 |
Autosomal Dominant Robinow Syndrome |
|
Epicanthus, Curly eyelashes, Upslanted palpebral fissure, Euryblepharon, Long eyelashes, Long pal... |
ORPHA:3107 |
Chromosome 16P13.3 Duplication Syndrome |
|
Epicanthus, Synophrys, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Narrow palpebr... |
OMIM:613458 |
Rubinstein-Taybi Syndrome 1 |
|
Broad eyebrow, Epicanthus, Small for gestational age, Highly arched eyebrow, Nasolacrimal duct ob... |
OMIM:180849 |
Kindler Syndrome |
|
Dermal atrophy, Spotty hypopigmentation, Diffuse skin atrophy |
OMIM:173650 |
Aniridia 1 |
|
Bilateral ptosis, Optic nerve hypoplasia, Ptosis |
OMIM:106210 |
Prolactinoma |
|
Seizure, Ptosis |
ORPHA:2965 |
Autosomal Recessive Robinow Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Long eyelashes, Long palpebral fissure, Downslanted palp... |
ORPHA:1507 |
Teebi-Shaltout Syndrome |
|
Telecanthus, Highly arched eyebrow, Ptosis |
OMIM:272950 |
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome |
|
Pseudopapilledema, Ptosis |
OMIM:146255 |
Hypertelorism-Hypospadias-Polysyndactyly Syndrome |
|
Eyelid coloboma, Downslanted palpebral fissures, Ptosis |
ORPHA:2211 |
Toriello-Lacassie-Droste Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:3339 |
Lacrimoauriculodentodigital Syndrome |
|
Lacrimal gland aplasia, Absent lacrimal punctum, Hypoplasia of the lacrimal punctum, Keratoconjun... |
ORPHA:2363 |
Kabuki Syndrome 1 |
|
Bilateral tonic-clonic seizure with focal onset, Highly arched eyebrow, Sparse eyebrow, Bilateral... |
OMIM:147920 |
Chime Syndrome |
|
Upslanted palpebral fissure, Seizure, Epicanthus, Ptosis |
ORPHA:3474 |
Phace Syndrome |
|
Seizure, Optic nerve hypoplasia, Abnormality of the orbital region, Ptosis |
ORPHA:42775 |
Coffin-Siris Syndrome 4 |
|
Seizure, Long eyelashes, Thick eyebrow, Ptosis |
OMIM:614609 |
Auriculocondylar Syndrome |
|
Ptosis |
ORPHA:137888 |
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome |
|
Epicanthus, Sparse eyelashes, Sparse eyebrow, Eyelid coloboma, Ptosis |
ORPHA:306542 |
Marden-Walker Syndrome |
|
Blepharophimosis, Failure to thrive, Short palpebral fissure, Ptosis |
ORPHA:2461 |
Nail-Patella Syndrome |
|
Antecubital pterygium, Ptosis |
OMIM:161200 |
Neuroocular Syndrome |
|
Highly arched eyebrow, Lagophthalmos, Synophrys, Nasolacrimal duct obstruction, Long eyelashes, L... |
OMIM:619539 |
Pachydermoperiostosis |
|
Ptosis, Hyperhidrosis |
ORPHA:2796 |
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome |
|
Highly arched eyebrow, Synophrys, Obesity, Long eyelashes, Downslanted palpebral fissures, Thick ... |
ORPHA:444077 |
Hunter-Macdonald Syndrome |
|
Upslanted palpebral fissure, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:611962 |
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome |
|
Papilledema, Bilateral tonic-clonic seizure with generalized onset, Cachexia, Generalized myoclon... |
ORPHA:2072 |
Tsh-Secreting Pituitary Adenoma |
|
Ptosis, Weight loss, Seizure, Hyperhidrosis |
ORPHA:91347 |
Abetalipoproteinemia |
|
Keratoconjunctivitis sicca, Failure to thrive, Ptosis |
ORPHA:14 |
Codas Syndrome |
|
Seizure, Ptosis |
OMIM:600373 |
Coffin-Siris Syndrome |
|
Seizure, Prominent eyelashes, Thick eyebrow, Ptosis |
ORPHA:1465 |
Glycogen Storage Disease Xii |
|
Epicanthus, Ptosis |
OMIM:611881 |
Kindler Epidermolysis Bullosa |
|
Atypical scarring of skin, Aplasia/Hypoplasia of the skin, Milia |
ORPHA:2908 |
Gabriele-De Vries Syndrome |
|
Telecanthus, Small for gestational age, Lacrimal duct stenosis, Sparse eyebrow, Downslanted palpe... |
ORPHA:506358 |
Genitourinary And/Or Brain Malformation Syndrome |
|
Epicanthus, Upslanted palpebral fissure, Epicanthus inversus, Short palpebral fissure, Ptosis |
OMIM:618820 |
Myhre Syndrome |
|
Blepharophimosis, Short palpebral fissure, Ptosis |
ORPHA:2588 |
Smith-Lemli-Opitz Syndrome |
|
Epicanthus, Aganglionic megacolon, Seizure, Failure to thrive, Ptosis |
OMIM:270400 |
Neurofibromatosis-Noonan Syndrome |
|
Ptosis, Epicanthus, Downslanted palpebral fissures, Lisch nodules |
OMIM:601321 |
Rothmund-Thomson Syndrome |
|
Aplasia/Hypoplasia of the skin |
ORPHA:2909 |
Fetal Akinesia Deformation Sequence 1 |
|
Telecanthus, Small for gestational age, Blepharophimosis, Short palpebral fissure, Ptosis |
OMIM:208150 |
Pituitary Apoplexy |
|
Ptosis |
ORPHA:95613 |
Cornelia De Lange Syndrome |
|
Curly eyelashes, Highly arched eyebrow, Synophrys, Truncal obesity, Seizure, Long eyelashes, Fail... |
ORPHA:199 |
Opitz Gbbb Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
ORPHA:2745 |
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia |
|
Epicanthus, Antecubital pterygium, Popliteal pterygium, Blepharophimosis, Ptosis |
OMIM:609945 |
Microphthalmia With Linear Skin Defects Syndrome |
|
Sacral dimple, Aplasia/Hypoplasia of the skin, Hypopigmented skin patches, Dermal atrophy |
ORPHA:2556 |
Aicardi-Goutières Syndrome |
|
Seizure, Eyelid coloboma, Panniculitis, Ptosis |
ORPHA:51 |
Noonan Syndrome 3 |
|
Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:609942 |
Dermatomyositis |
|
Aplasia/Hypoplasia of the skin, Skin ulcer, Papule |
ORPHA:221 |
Cohen-Gibson Syndrome |
|
Seizure, Epicanthus, Downslanted palpebral fissures, Ptosis |
OMIM:617561 |
Costello Syndrome |
|
Epicanthus, Vestibular schwannoma, Failure to thrive, Downslanted palpebral fissures, Ptosis |
OMIM:218040 |
Mitochondrial Complex Iii Deficiency, Nuclear Type 1 |
|
Seizure, Failure to thrive, Ptosis |
OMIM:124000 |
Microphthalmia, Syndromic 2 |
|
Seizure, Laterally curved eyebrow, Decreased body weight, Blepharophimosis, Thick eyebrow, Ptosis |
OMIM:300166 |
Good Syndrome |
|
Ptosis |
ORPHA:169105 |
Charge Syndrome |
|
Epicanthus, Facial palsy, Highly arched eyebrow, Optic atrophy, Abnormal cranial nerve morphology... |
ORPHA:138 |
Noonan Syndrome With Multiple Lentigines |
|
Ptosis |
ORPHA:500 |
Cardiospondylocarpofacial Syndrome |
|
Epicanthus, Telecanthus, Upslanted palpebral fissure, Failure to thrive, Ptosis |
OMIM:157800 |
Degcags Syndrome |
|
Abnormal eyebrow morphology, Small for gestational age, Abnormal eyelash morphology, Synophrys, L... |
OMIM:619488 |
Intellectual Developmental Disorder, Autosomal Dominant 68 |
|
Epicanthus, Ptosis |
OMIM:619934 |
Pearson Syndrome |
|
Seizure, Small for gestational age, Ptosis |
ORPHA:699 |
Zygomycosis |
|
Chemosis, Abnormal cranial nerve morphology, Ptosis |
ORPHA:73263 |
Wolf-Hirschhorn Syndrome |
|
Epicanthus, Small for gestational age, Highly arched eyebrow, Seizure, Failure to thrive, Ptosis |
OMIM:194190 |
Mesomelia-Synostoses Syndrome |
|
Telecanthus, Downslanted palpebral fissures, Ptosis |
OMIM:600383 |
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult |
|
Ptosis, Hyperhidrosis |
OMIM:161700 |
Glycogen Storage Disease Due To Acid Maltase Deficiency |
|
Failure to thrive, Ptosis |
ORPHA:365 |
Ifap Syndrome 1, With Or Without Bresheck Syndrome |
|
Absent eyebrow, Aganglionic megacolon, Absent eyelashes, Hypohidrosis, Seizure, Ptosis |
OMIM:308205 |
Thrombocytopenia-Absent Radius Syndrome |
|
Seizure, Ptosis |
OMIM:274000 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Aplasia/Hypoplasia of the skin |
ORPHA:2658 |
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome |
|
Highly arched eyebrow, Ptosis |
ORPHA:2282 |
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1 |
|
Epicanthus, Optic atrophy, Obesity, Upslanted palpebral fissure, Seizure, Ptosis |
OMIM:309580 |
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities |
|
Seizure, Ptosis |
OMIM:618748 |
Pituitary Hormone Deficiency, Combined Or Isolated, 8 |
|
Ptosis |
OMIM:620303 |
Diamond-Blackfan Anemia |
|
Epicanthus, Small for gestational age, Ptosis |
ORPHA:124 |
Specc1L-Related Hypertelorism Syndrome |
|
Thick eyebrow, Downslanted palpebral fissures, Highly arched eyebrow, Ptosis |
ORPHA:1519 |
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency |
|
Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstruction, Obesity, Seizure, Failure to th... |
ORPHA:353284 |
Rubinstein-Taybi Syndrome Due To Crebbp Mutations |
|
Highly arched eyebrow, Trichiasis, Nasolacrimal duct obstruction, Obesity, Seizure, Failure to th... |
ORPHA:353277 |
Noonan Syndrome |
|
Downslanted palpebral fissures, Ptosis |
ORPHA:648 |
Mowat-Wilson Syndrome |
|
Aganglionic megacolon, Seizure, Downslanted palpebral fissures, Broad eyebrow, Ptosis |
OMIM:235730 |
Myasthenic Syndrome, Congenital, 21, Presynaptic |
|
Ptosis |
OMIM:617239 |
Leopard Syndrome 1 |
|
Epicanthus, Ptosis |
OMIM:151100 |
Noonan Syndrome 1 |
|
Downslanted palpebral fissures, Epicanthus, Failure to thrive in infancy, Ptosis |
OMIM:163950 |
Monosomy 13Q14 |
|
Epicanthus, Ptosis |
ORPHA:1587 |
Trichorhinophalangeal Syndrome, Type Ii |
|
Hypohidrosis, Hyperhidrosis, Seizure, Febrile seizure (within the age range of 3 months to 6 year... |
OMIM:150230 |
Turner Syndrome Due To Structural X Chromosome Anomalies |
|
Epicanthus, Failure to thrive in infancy, Neck pterygia, Obesity, Ptosis |
ORPHA:99413 |
Mosaic Monosomy X |
|
Epicanthus, Failure to thrive in infancy, Neck pterygia, Obesity, Ptosis |
ORPHA:99228 |
Monosomy X |
|
Epicanthus, Failure to thrive in infancy, Neck pterygia, Obesity, Ptosis |
ORPHA:99226 |
Turner Syndrome |
|
Epicanthus, Failure to thrive in infancy, Neck pterygia, Obesity, Ptosis |
ORPHA:881 |
Coffin-Siris Syndrome 1 |
|
Seizure, Long eyelashes, Downslanted palpebral fissures, Thick eyebrow, Ptosis |
OMIM:135900 |
Meckel Syndrome, Type 1 |
|
Epicanthus inversus, Ptosis |
OMIM:249000 |
Proteus Syndrome |
|
Cachexia, Retinal hamartoma, Seizure, Downslanted palpebral fissures, Ptosis |
ORPHA:744 |
Kawasaki Disease |
|
Conjunctivitis, Ptosis |
ORPHA:2331 |
Branchiooculofacial Syndrome |
|
Telecanthus, Facial palsy, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Seizure, P... |
OMIM:113620 |
Alström Syndrome |
|
Dorsocervical fat pad, Esophageal varix, Gastroesophageal reflux, Hepatic failure, Polyphagia |
ORPHA:64 |
Joubert Syndrome 5 |
|
Ptosis |
OMIM:610188 |
Peters-Plus Syndrome |
|
Upslanted palpebral fissure, Seizure, Narrow palpebral fissure, Decreased body weight, Ptosis |
OMIM:261540 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Telecanthus, Epicanthus, Aganglionic megacolon, Highly arched eyebrow, Focal-onset seizure, Optic... |
ORPHA:261552 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Telecanthus, Aganglionic megacolon, Focal-onset seizure, Seizure, Atypical absence seizure, Failu... |
ORPHA:261537 |
Primrose Syndrome |
|
Epicanthus, Synophrys, Truncal obesity, Seizure, Downslanted palpebral fissures, Ptosis |
OMIM:259050 |
Pallister-Hall Syndrome |
|
Ptosis, Downslanted palpebral fissures, Focal emotional seizure with laughing, Large for gestatio... |
ORPHA:672 |
Okamoto Syndrome |
|
Long palpebral fissure, Ptosis |
ORPHA:2729 |
Saethre-Chotzen Syndrome |
|
Ptosis, Abnormal nasolacrimal system morphology, Shallow orbits |
OMIM:101400 |
Autosomal Dominant Cutis Laxa |
|
Ptosis |
ORPHA:90348 |
Pallister-Killian Syndrome |
|
Anhidrosis, Telecanthus, Epicanthus, Sparse eyelashes, Sparse eyebrow, Obesity, Hypohidrosis, Ups... |
OMIM:601803 |
Viss Syndrome |
|
Ectropion, Failure to thrive, Long palpebral fissure, Ptosis |
OMIM:619472 |
Charge Syndrome |
|
Downslanted palpebral fissures, Facial palsy, Ptosis |
OMIM:214800 |
Microphthalmia, Syndromic 1 |
|
Seizure, Optic disc coloboma, Aganglionic megacolon, Ptosis |
OMIM:309800 |
Singleton-Merten Syndrome 1 |
|
Ptosis, Decreased body weight |
OMIM:182250 |
Craniofacial Microsomia 1 |
|
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis |
OMIM:164210 |