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Gene: Gfra2 MGI:1195462

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Registered for phenotyping at IMPC

Phenotyping is planned for a knockout strain of this gene but data is not currently available.

Gene Summary

Name:
glial cell line derived neurotrophic factor family receptor alpha 2
Synonyms:
GFR alpha 2,  GFR alpha-2

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Gfra2 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Gfra2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Aplasia Cutis Congenita Of Limbs, Autosomal Recessive
Aplasia cutis congenita, Congenital absence of skin of limbs OMIM:600360
Aplasia Cutis Congenita, Nonsyndromic
Aplasia cutis congenita over the scalp vertex OMIM:107600
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Macule, Aplasia/Hypoplasia of the skin, Dermal atrophy ORPHA:1962
Scalp Defects And Postaxial Polydactyly
Aplasia cutis congenita of scalp OMIM:181250
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Thin skin, Hypohidrosis ORPHA:1658
Visceral Myopathy 2
Intestinal obstruction, Necrotizing enterocolitis, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita
Aplasia cutis congenita of scalp OMIM:302803
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Optic atrophy, Upslanted palpebral fissure, Seizure, Ptosis OMIM:620086
Dermoodontodysplasia
Thin skin OMIM:125640
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Ehlers-Danlos Syndrome With Platelet Dysfunction From Fibronectin Abnormality
Atypical scarring of skin, Thin skin, Striae distensae OMIM:225310
Renal Glucosuria
Polydipsia, Polyphagia OMIM:233100
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia, Dysphagia OMIM:300858
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Porokeratosis Of Mibelli
Aplasia/Hypoplasia of the skin ORPHA:735
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Kleine-Levin Hibernation Syndrome
Polyphagia OMIM:148840
Severe Hereditary Thrombophilia Due To Congenital Protein C Deficiency
Aplasia/Hypoplasia of the skin, Thin skin ORPHA:745
Severe Hereditary Thrombophilia Due To Congenital Protein S Deficiency
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:743
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
Hereditary Central Diabetes Insipidus
Polydipsia, Vomiting, Diarrhea ORPHA:30925
Type 1 Diabetes Mellitus
Polydipsia, Polyphagia OMIM:222100
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Kleine-Levin Syndrome
Poor appetite, Abnormal eating behavior, Repetitive compulsive behavior, Sweet craving, Hypersexu... ORPHA:33543
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Autism, Susceptibility To, X-Linked 6
Seizure, Obesity, Ptosis OMIM:300872
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Dermoodontodysplasia
Hypohidrosis, Thin skin, Melanocytic nevus ORPHA:1660
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Acrogeria
Aplasia/Hypoplasia of the skin, Thin skin, Skin ulcer ORPHA:2500
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Facial palsy, Progressive ptosis OMIM:164300
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Pick Disease Of Brain
Abnormal repetitive mannerisms, Polyphagia, Inappropriate laughter, Disinhibition OMIM:172700
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Increased adipose tissue ORPHA:71529
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Yoon-Bellen Neurodevelopmental Syndrome
Bilateral tonic-clonic seizure, Infantile spasms, Bilateral ptosis, Generalized myoclonic-atonic ... OMIM:619701
Dystonia-Deafness Syndrome 1
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
Abnormal repetitive mannerisms, Polyphagia OMIM:613886
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Fetal Encasement Syndrome
Thin skin OMIM:613630
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Intellectual Disability-Alacrima-Achalasia Syndrome
Achalasia, Dysphagia, Aggressive behavior ORPHA:289483
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Milia, Erythematous plaque, Thin skin, Dermal atrophy ORPHA:158673
Central Diabetes Insipidus
Nausea and vomiting, Polydipsia, Anorexia, Diarrhea ORPHA:178029
Hyperkeratosis Lenticularis Perstans
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
Ptosis OMIM:616227
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Esophageal stenosis, Hypoperistalsis, Esophageal neoplasm, Abnormal esophagus morpholo... ORPHA:1018
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Dystrophic Epidermolysis Bullosa Pruriginosa
Subcutaneous nodule, Atrophic scars, Dermal atrophy, Skin plaque, Milia, Papule ORPHA:89843
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Seizure, Optic atrophy OMIM:300928
2p15-16.1 microdeletion syndrome
Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis OMIM:619365
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Seizure, Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Frontotemporal Dementia
Polyphagia, Disinhibition, Inappropriate laughter OMIM:600274
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Polyphagia, Aggressive behavior ORPHA:329249
Myasthenic Syndrome, Congenital, 13
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
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
Atrophic scars, Thin skin OMIM:225320
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Scleromyxedema
Abnormality of the gastrointestinal tract, Hypoperistalsis, Gastroesophageal reflux, Dysphagia ORPHA:167635
Microcephaly 16, Primary, Autosomal Recessive
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
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
Polyphagia, Self-mutilation, Aggressive behavior OMIM:616521
Achalasia, Familial Esophageal
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
Polydipsia OMIM:606996
14Q11.2 Microduplication Syndrome
Feeding difficulties in infancy, Polyphagia, Attention deficit hyperactivity disorder, Aggressive... ORPHA:261229
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
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
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia cutis congenita ORPHA:79499
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder, Feeding difficulties ORPHA:369873
Secondary Short Bowel Syndrome
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
Nausea and vomiting, Polydipsia, Abdominal pain ORPHA:47045
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin ORPHA:157965
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
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
Polyphagia, Increased adipose tissue ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency
Polyphagia, Increased adipose tissue ORPHA:71526
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
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
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
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

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Gfra2

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Gfra2.

No publications found that use IMPC mice or data for Gfra2.

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MGI Allele Allele Type Produced
Gfra2em1(IMPC)Mhzh Deletion Mice

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