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

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

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
Congenital absence of skin of limbs, Aplasia cutis congenita OMIM:600360
Aplasia Cutis Congenita, Nonsyndromic
Aplasia cutis congenita over the scalp vertex OMIM:107600
Exostoses-Anetodermia-Brachydactyly Type E Syndrome
Aplasia/Hypoplasia of the skin, Dermal atrophy, Macule ORPHA:1962
Scalp Defects And Postaxial Polydactyly
Aplasia cutis congenita of scalp OMIM:181250
Absence Of Fingerprints-Congenital Milia Syndrome
Milia, Hypohidrosis, Thin skin ORPHA:1658
Visceral Myopathy 2
Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m... OMIM:619350
Oculomotor-Levator Synkinesis
Eyelid retraction, Ptosis, Abnormal eyelid morphology OMIM:151610
Exostoses With Anetodermia And Brachydactyly, Type E
Dermal atrophy OMIM:133690
Charcot-Marie-Tooth Peroneal Muscular Atrophy, X-Linked, With Aplasia Cutis Congenita
Aplasia cutis congenita of scalp OMIM:302803
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Seizure, Upslanted palpebral fissure, Epicanthus, 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
Striae distensae, Atypical scarring of skin, Thin skin OMIM:225310
Pruritic Urticarial Papules And Plaques Of Pregnancy
Striae distensae OMIM:178995
Striae Distensae, Familial
Striae distensae OMIM:185200
Renal Glucosuria
Polyphagia, Polydipsia OMIM:233100
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, Skin ulcer, Thin skin ORPHA:743
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Abdominal pain, Hy... OMIM:611376
Hereditary Central Diabetes Insipidus
Diarrhea, Vomiting, Polydipsia ORPHA:30925
Type 1 Diabetes Mellitus
Polyphagia, Polydipsia OMIM:222100
Ptosis, Hereditary Congenital 1
Congenital ptosis OMIM:178300
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Severe Early-Onset Obesity-Insulin Resistance Syndrome Due To Sh2B1 Deficiency
Aggressive behavior, Polyphagia ORPHA:329249
Kleine-Levin Syndrome
Polydipsia, Abnormal eating behavior, Sweet craving, Polyphagia, Repetitive compulsive behavior, ... ORPHA:33543
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia ORPHA:2400
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Dermoodontodysplasia
Melanocytic nevus, Hypohidrosis, Thin skin ORPHA:1660
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Autism, Susceptibility To, X-Linked 6
Obesity, Ptosis, Seizure OMIM:300872
Acrogeria
Aplasia/Hypoplasia of the skin, Skin ulcer, Thin skin ORPHA:2500
Pick Disease Of Brain
Polyphagia, Inappropriate laughter, Motor stereotypy, Disinhibition OMIM:172700
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
X-Linked Ehlers-Danlos Syndrome
Thin skin ORPHA:75497
Yoon-Bellen Neurodevelopmental Syndrome
Optic atrophy, Failure to thrive, Bilateral ptosis, Downslanted palpebral fissures, Infantile spa... OMIM:619701
Obesity Due To Melanocortin 4 Receptor Deficiency
Polyphagia, Increased adipose tissue ORPHA:71529
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Dystonia-Deafness Syndrome 1
Achalasia, Dysphagia, Pseudobulbar paralysis OMIM:607371
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Thin skin ORPHA:1810
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Progressive ptosis, Facial palsy OMIM:164300
Silver-Russell Syndrome 2
Hyperhidrosis, Thin skin OMIM:618905
Intellectual Disability-Alacrima-Achalasia Syndrome
Aggressive behavior, Achalasia, Dysphagia ORPHA:289483
Familial Cervical Artery Dissection
Striae distensae, Thin skin ORPHA:36382
Obesity, Hyperphagia, And Developmental Delay
Polyphagia, Motor stereotypy OMIM:613886
Localized Dystrophic Epidermolysis Bullosa, Acral Form
Dermal atrophy, Milia, Erythematous plaque, Thin skin ORPHA:158673
Achalasia-Microcephaly Syndrome
Achalasia ORPHA:929
Fetal Encasement Syndrome
Thin skin OMIM:613630
Myasthenic Syndrome, Congenital, 17
Ptosis OMIM:616304
Central Diabetes Insipidus
Polydipsia, Diarrhea, Nausea and vomiting, Anorexia ORPHA:178029
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Gastroesophageal reflux, Vomiting, Nasogastric tube feeding, Abnormal gastrointestinal tract morp... ORPHA:1018
Epidermolysis Bullosa With Congenital Localized Absence Of Skin And Deformity Of Nails
Congenital localized absence of skin OMIM:132000
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Myasthenic Syndrome, Congenital, 15
Ptosis OMIM:616227
Hyperkeratosis Lenticularis Perstans
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer ORPHA:409
Dystrophic Epidermolysis Bullosa Pruriginosa
Atrophic scars, Milia, Dermal atrophy, Skin plaque, Subcutaneous nodule, Papule ORPHA:89843
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Intellectual Developmental Disorder, X-Linked 101
Optic atrophy, Unilateral ptosis, Seizure OMIM:300928
Body Mass Index Quantitative Trait Locus 20
Polyphagia OMIM:618406
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Hypoperistalsis, Abdominal distention OMIM:619365
Self-Improving Dystrophic Epidermolysis Bullosa
Milia, Atrophic scars, Skin erosion, Aplasia cutis congenita ORPHA:79411
2p15-16.1 microdeletion syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures DECIPHER:70
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Ptosis, Horizontal eyebrow, Seizure OMIM:619311
Myasthenic Syndrome, Congenital, 18
Ptosis OMIM:616330
Frontotemporal Dementia
Polyphagia, Inappropriate laughter, Disinhibition OMIM:600274
Myasthenic Syndrome, Congenital, 13
Ptosis OMIM:614750
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Thin skin OMIM:259410
Developmental Malformations-Deafness-Dystonia Syndrome
Achalasia, Dysphagia ORPHA:79107
Scleromyxedema
Hypoperistalsis, Abnormality of the gastrointestinal tract, Gastroesophageal reflux, Dysphagia ORPHA:167635
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Ptosis, Facial palsy OMIM:617732
Immunodeficiency 70
Celiac disease, Colitis, Achalasia OMIM:618969
Ehlers-Danlos Syndrome, Cardiac Valvular Type
Atrophic scars, Thin skin OMIM:225320
Obesity And Hypopigmentation
Polyphagia OMIM:620195
Microcephaly 16, Primary, Autosomal Recessive
Telecanthus, Ptosis, Seizure, Decreased body weight OMIM:616681
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Microcolon, Umbilical hernia, Intestinal malrotation, Nausea and vomiting, Abnormality of the gas... ORPHA:2241
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Focal impaired awareness seizure, Seizure, Bilateral ptosis, Focal-onset seizure, ... ORPHA:330050
Vocal Cord Paralysis And Ptosis
Bilateral ptosis OMIM:193240
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Ptosis, Abnormal cranial nerve morphology OMIM:258470
Atrophoderma Vermiculata
Hyperkeratotic papule, Hypoplastic pilosebaceous units, Atrophic scars, Periauricular skin pits, ... ORPHA:79100
Intellectual Developmental Disorder, Autosomal Dominant 39
Polyphagia, Aggressive behavior, Self-mutilation OMIM:616521
Superficial Epidermolytic Ichthyosis
Thin skin ORPHA:455
Parietal Foramina 3
Aplasia cutis congenita of scalp OMIM:609566
Achalasia, Familial Esophageal
Xerostomia, Achalasia OMIM:200400
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Thin skin, Skin dimple ORPHA:261304
Senior-Loken Syndrome 4
Polydipsia OMIM:606996
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Oral aversion, Gastroesophageal reflux, Achalasia, Feeding difficulties OMIM:600987
14Q11.2 Microduplication Syndrome
Attention deficit hyperactivity disorder, Polyphagia, Feeding difficulties in infancy, Aggressive... ORPHA:261229
Joubert Syndrome 36
Highly arched eyebrow, Ptosis, Seizure OMIM:618763
Pseudoprogeria Syndrome
Thin skin ORPHA:2985
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Gastroesophageal reflux, Ineffective esophageal peristalsis, Chronic constipation, Gastrostomy tu... OMIM:619482
Autosomal Dominant Deafness-Onychodystrophy Syndrome
Aplasia cutis congenita ORPHA:79499
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Ptosis, Blepharophimosis, Abnormal lacrimal duct morphology, Synophrys ORPHA:126
Secondary Short Bowel Syndrome
Diarrhea, Vomiting, Volvulus, Malnutrition, Villous atrophy, Malabsorption, Abnormal small intest... ORPHA:95427
Juvenile Hyaline Fibromatosis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Papule, Skin ulcer ORPHA:2028
Familial Cold Urticaria
Abdominal pain, Polydipsia, Nausea and vomiting ORPHA:47045
Tetrasomy 18P
Achalasia ORPHA:3307
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome
Thin skin ORPHA:157965
Obesity Due To Sim1 Deficiency
Polyphagia, Attention deficit hyperactivity disorder ORPHA:369873
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
Acquired Central Diabetes Insipidus
Polydipsia ORPHA:95626
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13
Polyphagia, Feeding difficulties in infancy, Inappropriate laughter, Hyperactivity ORPHA:411515
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Coffin-Siris Syndrome 8
Failure to thrive, Seizure, Long eyelashes, Thick eyebrow, Ptosis OMIM:618362
Ochoa Syndrome
Constipation, Polydipsia, Bowel incontinence ORPHA:2704
Bardet-Biedl Syndrome 22
Polyphagia OMIM:617119
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Ptosis, Frontalis muscle weakness, Facial palsy, Decreased body weight OMIM:300580
Leptin Deficiency Or Dysfunction
Polyphagia OMIM:614962
Posterior Column Ataxia With Retinitis Pigmentosa
Camptodactyly, Joint contracture of the hand, Flexion contracture of finger, Achalasia OMIM:609033
Leptin Receptor Deficiency
Aggressive behavior, Polyphagia, Abnormal eating behavior OMIM:614963
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Achalasia ORPHA:436174
Prader-Willi Syndrome Due To Imprinting Mutation
Polyphagia, Feeding difficulties in infancy ORPHA:177910
Nephronophthisis-Like Nephropathy 2
Polydipsia OMIM:619468
Congenital Heart Defects And Ectodermal Dysplasia
Thin skin OMIM:617364
Triple A Syndrome
Achalasia ORPHA:869
Schaaf-Yang Syndrome
Gastroesophageal reflux, Polyphagia, Skin-picking, Constipation, Impulsivity, Camptodactyly, Flex... OMIM:615547
Huntington Disease
Oral-pharyngeal dysphagia, Disinhibition, Polyphagia, Addictive alcohol use, Aggressive behavior,... ORPHA:399
2Q23.1 Microdeletion Syndrome
Self-injurious behavior, Polyphagia, Paroxysmal bursts of laughter, Constipation, Hyperactivity, ... ORPHA:228402
Arthrochalasia Ehlers-Danlos Syndrome
Thin skin ORPHA:1899
Aplasia Cutis Congenita
Aplasia cutis congenita, Skin ulcer, Aplasia cutis congenita over the scalp vertex, Congenital lo... ORPHA:1114
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Webbed neck, Cigarette-paper scars, Thin skin OMIM:612350
Periventricular Nodular Heterotopia
Thin skin ORPHA:98892
Developmental And Epileptic Encephalopathy 18
Highly arched eyebrow, Generalized non-motor (absence) seizure, Downslanted palpebral fissures, G... OMIM:615476
Nephronophthisis 9
Polydipsia OMIM:613824
Speech Development, Delayed, With Facial Asymmetry, Strabismus, And Transverse Earlobe Crease
Unilateral ptosis, Unilateral narrow palpebral fissure OMIM:182875
Focal Facial Dermal Dysplasia Type I
Spotty hypopigmentation, Atrophic scars, Aplasia cutis congenita, Skin dimple ORPHA:79133
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Ptosis, Facial palsy OMIM:609283
Ulerythema Ophryogenesis
Hyperkeratotic papule, Dermal atrophy, Erythematous papule ORPHA:3406
Intermediate Generalized Junctional Epidermolysis Bullosa
Atrophic scars, Milia, Scarring alopecia of scalp, Aplasia cutis congenita ORPHA:79402
B4Galt7-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Atypical scarring of skin, Thin skin ORPHA:75496
Bardet-Biedl Syndrome 9
Polyphagia, Polydipsia OMIM:615986
Hypotonia-Cystinuria Syndrome
Polyphagia ORPHA:163690
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Thick eyebrow, Abnormal cranial nerve morphology, Ptosis, Blepharophimosis... ORPHA:2057
American Trypanosomiasis
Diarrhea, Aganglionic megacolon, Achalasia, Abdominal pain, Abnormal large intestine physiology ORPHA:3386
6Q16 Microdeletion Syndrome
Abnormal temper tantrums, Polyphagia, Poor suck ORPHA:171829
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Short-segment aganglionic megacolon, Ptosis OMIM:619465
Riboflavin Transporter Deficiency
Seizure, Abnormal cranial nerve morphology, Myoclonus, Cachexia, Ptosis, Abnormal autonomic nervo... ORPHA:97229
Diabetes Insipidus, Nephrogenic, 2, Autosomal
Feeding difficulties in infancy, Vomiting, Polydipsia, Constipation OMIM:125800
Diabetes Insipidus, Nephrogenic, 1, X-Linked
Feeding difficulties in infancy, Vomiting, Polydipsia, Constipation OMIM:304800
Cluster Headache, Familial
Ptosis, Hyperhidrosis OMIM:119915
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia
Aplasia/Hypoplasia of the skin, Atypical scarring of skin, Subcutaneous nodule ORPHA:1366
Classical-Like Ehlers-Danlos Syndrome Type 1
Thin skin ORPHA:230839
Hypermetabolism Due To Uncoupled Mitochondrial Oxidative Phosphorylation 2
Polyphagia OMIM:620085
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Ptosis, Failure to thrive, Seizure OMIM:618238
Progressive Hemifacial Atrophy
Aplasia/Hypoplasia of the skin ORPHA:1214
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Achalasia OMIM:300858
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Obesity, Ptosis ORPHA:171706
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy
Dermal atrophy OMIM:617294
Spastic Ataxia 1, Autosomal Dominant
Ptosis OMIM:108600
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Ptosis, Failure to thrive OMIM:616326
Intellectual Developmental Disorder, Autosomal Dominant 72
Polyphagia, Attention deficit hyperactivity disorder, Overfriendliness, Feeding difficulties OMIM:620439
Temple Syndrome
Polyphagia, Feeding difficulties in infancy, Feeding difficulties, Nasogastric tube feeding ORPHA:254516
Familial Hyperaldosteronism Type I
Nausea, Polydipsia ORPHA:403
Hyperinsulinism Due To Ucp2 Deficiency
Polyphagia, Agitation, Feeding difficulties ORPHA:276556
Segawa Syndrome, Autosomal Recessive
Ptosis, Myoclonus OMIM:605407
Familial Partial Lipodystrophy, Dunnigan Type
Aplasia/Hypoplasia of the skin, Thin skin, Xanthomatosis ORPHA:2348
Weiss-Kruszka Syndrome
Epicanthus, Ptosis, Highly arched eyebrow, Downslanted palpebral fissures ORPHA:502430
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Seizure, Myoclonus, Ptosis, Clonic seizure, Status epilepticus, Bilateral tonic-clonic seizure wi... OMIM:610539
Hypertrichosis Cubiti
Downslanted palpebral fissures, Thick eyebrow, Abnormal nasolacrimal system morphology, Ptosis, A... ORPHA:2220
Joubert Syndrome 10
Polyphagia, Feeding difficulties in infancy, Frequent temper tantrums, Tube feeding OMIM:300804
Cebalid Syndrome
Polyphagia, Congenital diaphragmatic hernia, Feeding difficulties OMIM:618774
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Highly arched eyebrow, Ptosis, Seizure OMIM:616154
Borjeson-Forssman-Lehmann Syndrome
Seizure, Obesity, Ptosis, Blepharophimosis, Narrow palpebral fissure OMIM:301900
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency
Polyphagia, Agitation, Feeding difficulties ORPHA:276575
Kondoh Syndrome
Ptosis, Thick eyebrow OMIM:606242
Teratoma, Pineal
Polydipsia OMIM:273120
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency
Polyphagia, Agitation, Feeding difficulties ORPHA:276580
Pparg-Related Familial Partial Lipodystrophy
Aplasia/Hypoplasia of the skin, Thin skin, Xanthomatosis ORPHA:79083
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Abnormal intestine morphology, Celiac disease, Exocrine pancreatic insufficiency, Achalasia OMIM:615952
Fazio-Londe Disease
Ptosis, Facial diplegia OMIM:211500
11Q22.2Q22.3 Microdeletion Syndrome
Seizure, Obesity, Thick eyebrow, Epicanthus, Ptosis ORPHA:444002
Fatty Acyl-Coa Reductase 1 Deficiency
Highly arched eyebrow, Ptosis, Seizure ORPHA:438178
Diabetes Mellitus, Permanent Neonatal, 2
Myoclonic seizure, Bilateral tonic-clonic seizure with focal onset, Bilateral tonic-clonic seizur... OMIM:618856
Hyperinsulinism Due To Hnf1A Deficiency
Polyphagia, Agitation, Feeding difficulties ORPHA:324575
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Sparse eyebrow, Seizure, Generalized-onset seizure, Telecanthus, Thick eyebrow, Epicanthus, Ptosis OMIM:617268
Prolidase Deficiency
Aplasia/Hypoplasia of the skin, Papule, Skin ulcer, Thin skin ORPHA:742
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Seizure, Upslanted palpebral fissure, Almond-shaped palpebral fissure, Increased body weight, Epi... ORPHA:589905
Acth-Independent Macronodular Adrenal Hyperplasia
Striae distensae, Thin skin OMIM:219080
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Feeding difficulties, Achalasia, Dysphagia, Esophageal stenosis OMIM:615510
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Ptosis, Obesity, Blepharophimosis OMIM:606772
Pigmented Nodular Adrenocortical Disease, Primary, 2
Striae distensae, Thin skin OMIM:610475
Intellectual Developmental Disorder With Autism And Macrocephaly
Ptosis, Seizure, Overweight, Downslanted palpebral fissures OMIM:615032
Coenzyme Q10 Deficiency, Primary, 4
Epilepsia partialis continua, Seizure, Myoclonus, Generalized tonic seizure, Ptosis OMIM:612016
Myasthenic Syndrome, Congenital, 23, Presynaptic
Ptosis OMIM:618197
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased distal sensory nerve action potential, Ptosis, Decreased motor nerve conduction velocit... OMIM:607684
Intellectual Developmental Disorder, Autosomal Dominant 26
Highly arched eyebrow, Short palpebral fissure, Downslanted palpebral fissures, Thick eyebrow, Up... OMIM:615834
Parkinsonism-Dystonia 2, Infantile-Onset
Ptosis, Hyperhidrosis, Abnormal autonomic nervous system physiology OMIM:618049
Waardenburg Syndrome Type 2
Aganglionic megacolon, Telecanthus, Ptosis ORPHA:895
Graves Disease
Polyphagia, Hyperactivity OMIM:275000
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Ring Chromosome 1 Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:1437
Epidermolysis Bullosa, Junctional 1B, Severe
Atrophic scars, Milia, Congenital localized absence of skin OMIM:226700
Nephrogenic Diabetes Insipidus
Polydipsia, Nausea and vomiting, Constipation, Anorexia, Feeding difficulties ORPHA:223
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis OMIM:192800
Cutis Laxa, Autosomal Recessive, Type Iiia
Thin skin OMIM:219150
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Myoclonic seizure, Seizure, Long eyelashes, Bilateral tonic-clonic seizure with generalized onset... OMIM:619076
Xp22.3 Microdeletion Syndrome
Aplasia/Hypoplasia of the skin, Sacral dimple ORPHA:1643
Amyotrophy, Hereditary Neuralgic
Brachial plexus neuropathy, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis OMIM:162100
Pemphigus Erythematosus
Localized skin lesion, Skin erosion, Focal dermal aplasia/hypoplasia, Hypopigmented skin patches,... ORPHA:79480
Neuropathy, Hereditary Motor And Sensory, Russe Type
Ptosis, Decreased motor nerve conduction velocity OMIM:605285
Mosaic Trisomy 14
Ptosis, Seizure, Blepharophimosis, Failure to thrive ORPHA:1703
Angelman Syndrome
Self-injurious behavior, Vomiting, Gastroesophageal reflux, Nasogastric tube feeding, Inappropria... ORPHA:72
Chromosome 22Q13 Duplication Syndrome
Polyphagia, Attention deficit hyperactivity disorder, Impulsivity OMIM:615538
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Ptosis, Abnormal autonomic nervous system physiology OMIM:610743
Aplasia Cutis-Myopia Syndrome
Aplasia cutis congenita, Skin ulcer ORPHA:1117
Familial Hyperaldosteronism Type Iii
Nausea, Polydipsia ORPHA:251274
Body Mass Index Quantitative Trait Locus 19
Polyphagia OMIM:617885
Cystinosis
Vomiting, Malabsorption, Motor stereotypy, Polydipsia ORPHA:213
Hypotrichosis-Lymphedema-Telangiectasia Syndrome
Thin skin OMIM:607823
Myoclonus, Intractable, Neonatal
Optic disc pallor, Ptosis, Myoclonus, Clonic seizure OMIM:617235
Myasthenic Syndrome, Congenital, 12
Ptosis, Facial palsy OMIM:610542
Smooth Muscle Dysfunction Syndrome
Intestinal malrotation, Hypoperistalsis OMIM:613834
Combined Oxidative Phosphorylation Deficiency 20
Ptosis, Small for gestational age, Focal-onset seizure OMIM:615917
Acrofacial Dysostosis Syndrome Of Rodriguez
Thin skin OMIM:201170
Trisomy 18P
Polyphagia, Attention deficit hyperactivity disorder, Pyloric stenosis ORPHA:1715
Pediatric-Onset Graves Disease
Diarrhea, Polydipsia, Nausea and vomiting, Polyphagia, Hyperactivity ORPHA:525731
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis, Seizure ORPHA:324262
Frontotemporal Lobar Degeneration With Tdp43 Inclusions, Grn-Related
Disinhibition, Polyphagia, Repetitive compulsive behavior, Agitation, Hypersexuality OMIM:607485
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Ptosis ORPHA:1373
19Q13.11 Microdeletion Syndrome
Aplasia cutis congenita, Thin skin ORPHA:217346
Sclerosteosis
Optic atrophy, Ptosis, Facial palsy ORPHA:3152
Mirage Syndrome
Gastroesophageal reflux, Achalasia, Chronic diarrhea, Esophageal stricture OMIM:617053
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Sparse eyebrow, Febrile seizure (within the age range of 3 months to 6 years), Downslanted palpeb... OMIM:619989
Osteogenesis Imperfecta, Type Ii
Thin skin OMIM:166210
Arthrogryposis, Distal, Type 7
Ptosis OMIM:158300
Spinocerebellar Ataxia, Autosomal Recessive 32
Abnormal nerve conduction velocity, Ptosis, Limb myoclonus OMIM:619862
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Ptosis, Facial palsy OMIM:616322
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Seizure, Downslanted palpebral fissures, Long eyelashes, Thick eyebrow, Pt... OMIM:300590
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:616325
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Cachexia, Ptosis, Seizure ORPHA:1933
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Ptosis, Hyperhidrosis, Small for gestational age, Seizure ORPHA:70594
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Seizure, Bilateral ptosis, Downslanted palpebral fissures OMIM:618859
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Ptosis, Facial palsy ORPHA:2743
Li-Campeau Syndrome
Seizure, Downslanted palpebral fissures, Telecanthus, Thick eyebrow, Ptosis OMIM:619189
Chromosome Xq13 Duplication Syndrome
Highly arched eyebrow, Short palpebral fissure, Sparse lateral eyebrow, Seizure, Febrile seizure ... OMIM:301069
Huriez Syndrome
Aplasia/Hypoplasia of the skin ORPHA:384
Whistling Face Syndrome, Recessive Form
Short palpebral fissure, Telecanthus, Epicanthus, Ptosis, Blepharophimosis OMIM:277720
Congenital Arthrogryposis With Anterior Horn Cell Disease
Ptosis, Facial diplegia, Seizure, Downslanted palpebral fissures OMIM:611890
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Epicanthus, Ptosis, Seizure ORPHA:1825
Char Syndrome
Ptosis, Highly arched eyebrow, Thick eyebrow OMIM:169100
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Congenital ptosis OMIM:254190
Pigmented Nodular Adrenocortical Disease, Primary, 1
Striae distensae, Thin skin OMIM:610489
Glucocorticoid Deficiency 2
Achalasia OMIM:607398
Marshall-Smith Syndrome
Thin skin ORPHA:561
Hypotonia-Cystinuria Syndrome
Polyphagia, Feeding difficulties in infancy OMIM:606407
Primary Unilateral Adrenal Hyperplasia
Nausea, Polydipsia ORPHA:231580
Myasthenic Syndrome, Congenital, 16
Ptosis, Bilateral ptosis OMIM:614198
Fibrosis Of Extraocular Muscles, Congenital, 1
Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atrophy, Superior rectus... OMIM:135700
Trisomy 5P
Obesity, Ptosis ORPHA:1742
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Aganglionic megacolon, Ptosis, Abnormal autonomic nervous system physiology OMIM:243180
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia
Gastroesophageal reflux, Vomiting, Eosinophilic microabscess formation in the esophagus, Feeding ... ORPHA:411696
Ehlers-Danlos Syndrome, Periodontal Type, 1
Atrophic scars, Thin skin OMIM:130080
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Hypohidrosis, Thin skin ORPHA:1812
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Ptosis, Upslanted palpebral fissure, Bilateral tonic-clonic seizure, Synophrys OMIM:616083
Whipple Disease
Gastrointestinal hemorrhage, Diarrhea, Polydipsia, Malabsorption, Anorexia, Abdominal pain ORPHA:3452
Septo-Optic Dysplasia Spectrum
Polydipsia, Tracheoesophageal fistula, Esophageal atresia, Constipation ORPHA:3157
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Aplasia cutis congenita OMIM:612138
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Aplasia/Hypoplasia of the skin, Dermal atrophy, Papule, Skin vesicle ORPHA:257
Nephronophthisis 4
Polydipsia OMIM:606966
Lichen Planopilaris
Dermal atrophy, Papule, Skin ulcer, Hypopigmented skin patches ORPHA:525
Hyperaldosteronism, Familial, Type Iii
Polydipsia OMIM:613677
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Ineffective esophageal peristalsis, Feeding difficulties, Chronic constipa... OMIM:209880
East Syndrome
Salt craving, Polydipsia ORPHA:199343
Focal Dermal Hypoplasia
Dermal atrophy, Aplasia/Hypoplasia of the skin, Macule, Skin nodule, Subcutaneous nodule, Thin skin ORPHA:2092
Pituitary Adenoma 4, Acth-Secreting
Striae distensae, Thin skin OMIM:219090
Spinocerebellar Ataxia With Epilepsy
Optic atrophy, Ptosis, Myoclonus, Bilateral tonic-clonic seizure with focal onset ORPHA:254881
Cardiac-Valvular Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:230851
Kosaki Overgrowth Syndrome
Xanthelasma, Thin skin OMIM:616592
Neurodevelopmental Disorder With Variable Motor And Language Impairment
Cafe-au-lait spot, Thin skin OMIM:617804
Short Syndrome
Thin skin OMIM:269880
Adams-Oliver Syndrome 4
Aplasia cutis congenita OMIM:615297
Leigh Syndrome, Nuclear
Optic atrophy, Ptosis, Failure to thrive, Seizure OMIM:256000
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Congenital fibrosis of extraocular muscles, Ptosis, Levator palpebrae superioris atrophy, Facial ... OMIM:600638
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Flexion contracture, Achalasia OMIM:616007
Adult Syndrome
Melanocytic nevus, Skin ulcer, Thin skin ORPHA:978
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Ptosis, Failure to thrive, Seizure OMIM:618226
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Ptosis, Obesity, Blepharophimosis ORPHA:397973
Primary Hyperaldosteronism-Seizures-Neurological Abnormalities Syndrome
Nausea, Polydipsia ORPHA:369929
Mitochondrial Complex I Deficiency, Nuclear Type 4
Myoclonic seizure, Ptosis, Myoclonus, Seizure OMIM:618225
Non-Specific Early-Onset Epileptic Encephalopathy
Optic atrophy, Failure to thrive, Seizure, Downslanted palpebral fissures, Myoclonus, Ptosis, Sta... ORPHA:442835
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Ptosis OMIM:617069
Spinocerebellar Ataxia 50
Froment sign, Ptosis, Myoclonus OMIM:620158
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Ptosis OMIM:616321
Senior-Loken Syndrome 3
Polydipsia OMIM:606995
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis, Failure to thrive, Seizure OMIM:269920
Intellectual Developmental Disorder, Autosomal Dominant 1
Self-injurious behavior, Gastroesophageal reflux, Bruxism, Inappropriate laughter, Recurrent hand... OMIM:156200
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Thick eyebrow, Ptosis, Blepharophimosis, Frontalis muscle weakness, Synophrys OMIM:210745
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Seizure, Telecanthus, Long palpebral fissure, Ptosis OMIM:614583
Congenital Myopathy With Myasthenic-Like Onset
Ptosis, Failure to thrive ORPHA:424107
Arthrogryposis, Distal, Type 2B3
Ptosis, Downslanted palpebral fissures OMIM:618436
Cornelia De Lange Syndrome 5
Highly arched eyebrow, Seizure, Long eyelashes, Telecanthus, Ptosis, Truncal obesity, Synophrys OMIM:300882
Tooth Agenesis, Selective, 4
Hypohidrosis, Palmoplantar hyperhidrosis, Thin skin OMIM:150400
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Failure to thrive, Seizure, Generalized-onset seizure, Infantile spasms, Facial diplegia, Ptosis,... OMIM:612073
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Thin skin OMIM:112250
Tetrasomy 12P
Sparse eyebrow, Telecanthus, Upslanted palpebral fissure, Cachexia, Ptosis, Hypohidrosis ORPHA:884
Premature Aging Syndrome, Penttinen Type
Skin nodule, Dermal atrophy, Keloids, Thin skin OMIM:601812
Localized Junctional Epidermolysis Bullosa
Atypical scarring of skin, Milia, Scarring alopecia of scalp, Aplasia cutis congenita, Skin detac... ORPHA:251393
Mcdonough Syndrome
Cachexia, Short palpebral fissure, Ptosis, Synophrys ORPHA:2471
Goldberg-Shprintzen Megacolon Syndrome
Aganglionic megacolon, Sparse eyebrow, Ptosis, Seizure ORPHA:66629
Diabetes And Deafness, Maternally Inherited
Ptosis, Seizure OMIM:520000
Mandibuloacral Dysplasia
Thin skin ORPHA:2457
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Man1B1-Cdg
Polyphagia ORPHA:397941
Ascher Syndrome
Upper eyelid edema, Ptosis, Abnormal eyelid morphology, Blepharophimosis ORPHA:1253
Geroderma Osteodysplastica
Thin skin ORPHA:2078
Spinal Muscular Atrophy, X-Linked 2
Ptosis, Decreased compound muscle action potential amplitude, Facial palsy OMIM:301830
Bardet-Biedl Syndrome 17
Polydipsia OMIM:615994
Warburg Micro Syndrome 1
Optic atrophy, Ptosis, Failure to thrive OMIM:600118
Spinocerebellar Ataxia, Autosomal Recessive 31
Optic atrophy, Ptosis, Seizure OMIM:619422
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Ptosis, Unilateral narrow palpebral fissure, Downslanted palpebral fissures ORPHA:3038
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Epicanthus, Ptosis ORPHA:2958
Recon Progeroid Syndrome
Thin skin OMIM:620370
Gitelman Syndrome
Vomiting, Polydipsia, Chondrocalcinosis, Salt craving, Constipation, Abdominal pain OMIM:263800
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Synophrys, Ptosis, Downslanted palpebral fissures ORPHA:1390
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Aplasia/Hypoplasia of the skin, Thin skin, Xanthomatosis ORPHA:280365
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Optic atrophy, Ptosis, Myoclonus, Seizure OMIM:252011
Insulinoma
Polyphagia, Zollinger-Ellison syndrome ORPHA:97279
Developmental Delay, Dysmorphic Facies, And Brain Anomalies
Ptosis, Thick eyebrow, Upslanted palpebral fissure, Febrile seizure (within the age range of 3 mo... OMIM:620535
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Cachexia, Ptosis, Seizure ORPHA:52503
Achalasia-Addisonianism-Alacrima Syndrome
Achalasia OMIM:231550
Symptomatic Form Of Fragile X Syndrome In Female Carriers
Thin skin ORPHA:449291
Hypohidrotic Ectodermal Dysplasia
Hypohidrosis, Thin skin ORPHA:238468
Deafness, X-Linked 7
Ptosis, Telecanthus, Thick eyebrow OMIM:301018
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Autosomal Dominant Spastic Ataxia Type 1
Ptosis, Abnormal eyelid morphology ORPHA:251282
Mandibuloacral Dysplasia With Type B Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90154
Chromosome 3Pter-P25 Deletion Syndrome
Highly arched eyebrow, Seizure, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis... OMIM:613792
Mandibuloacral Dysplasia With Type A Lipodystrophy
Dermal atrophy, Thin skin ORPHA:90153
Joubert Syndrome 26
Ptosis OMIM:616784
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Polydipsia, Acute hepatic failure, Malabsorption, Nausea and vomitin... ORPHA:537
Frontoocular Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Epicanthus, Ptosis, Blepharophimosis OMIM:605321
Foxp1 Syndrome
Failure to thrive, Seizure, Downslanted palpebral fissures, Ptosis, Blepharophimosis, Overweight ORPHA:391372
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Ptosis, Abnormal auditory evoked potentials OMIM:125250
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Seizure, Downslanted palpebral fissures, Failure to thrive in infancy, Epicanthus, Cachexia, Ptosis OMIM:616801
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Failure to thrive, Seizure, Infantile spasms, Myoclonus, Ptosis, Small for gestati... OMIM:614261
Congenital Myopathy 4A, Autosomal Dominant
Ptosis, Failure to thrive, Facial palsy OMIM:255310
Proximal Xq28 Duplication Syndrome
Epicanthus, Ptosis, Blepharophimosis ORPHA:1762
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Esophagitis, Achalasia, Feeding difficulties OMIM:615356
Prieto Syndrome
Epicanthus, Ptosis OMIM:309610
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Ptosis, Facial palsy OMIM:608930
Cutis Laxa, Autosomal Recessive, Type Iiib
Thin skin OMIM:614438
Congenital Heart Defects And Skeletal Malformations Syndrome
Thin skin OMIM:617602
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Ptosis, Seizure, Downslanted palpebral fissures OMIM:615433
Rapp-Hodgkin Syndrome
Hypohidrosis, Thin skin OMIM:129400
Pontocerebellar Hypoplasia, Type 16
Optic atrophy, Ptosis, Seizure OMIM:619527
Pyruvate Dehydrogenase E1-Alpha Deficiency
Ptosis, Myoclonus, Small for gestational age, Seizure OMIM:312170
Distal Duplication 15Q
Ptosis, Blepharophimosis, Seizure, Downslanted palpebral fissures ORPHA:1707
Magel2-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Gastroesophageal reflux, Xerostomia, Nasogastric tube feeding, Chronic ... ORPHA:398069
Dermatosparaxis Ehlers-Danlos Syndrome
Thin skin ORPHA:1901
Nephronophthisis 1
Polydipsia OMIM:256100
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Ptosis OMIM:617070
Glass Syndrome
Thin skin OMIM:612313
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Ptosis OMIM:618637
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Wagro Syndrome
Compulsive behaviors, Polyphagia, Aggressive behavior, Agitation OMIM:612469
Luscan-Lumish Syndrome
Polyphagia, Aggressive behavior OMIM:616831
Stuve-Wiedemann Syndrome 1
Milia, Hyperhidrosis, Thin skin OMIM:601559
Coffin-Siris Syndrome 5
Ptosis, Long eyelashes, Thick eyebrow, Seizure OMIM:616938
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia
Aplasia cutis congenita of scalp, Aplasia cutis congenita on trunk or limbs OMIM:619817
Adult Syndrome
Dermal atrophy, Thin skin OMIM:103285
Proteus Syndrome
Ptosis, Limbal dermoid, Downslanted palpebral fissures OMIM:176920
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Ptosis ORPHA:83619
Developmental And Epileptic Encephalopathy 84
Short palpebral fissure, Seizure, Epileptic spasm, Epicanthus, Ptosis, Blepharophimosis, Synophrys OMIM:618792
Xeroderma Pigmentosum
Hypopigmented skin patches, Dermal atrophy, Melanocytic nevus, Macule, Hypermelanotic macule, Thi... ORPHA:910
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Seizure, Facial diplegia, Epicanthus, Cachexia, Ptosis OMIM:618186
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Seizure, Generalized non-motor (absence) seizure, Ptosis, Bilateral tonic-clonic seizure, Multifo... OMIM:618170
Hyperparathyroidism-Jaw Tumor Syndrome
Peptic ulcer, Chondrocalcinosis, Polydipsia, Nausea and vomiting, Episodic abdominal pain, Consti... ORPHA:99880
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair
Polyphagia OMIM:609734
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormal auditory evoked potentials, Downslanted palpebral fissures, Long eyelashes, Ptosis, Opti... OMIM:617523
Perlman Syndrome
Epicanthus, Ptosis, Status epilepticus, Seizure ORPHA:2849
Hyperparathyroidism, Neonatal Severe
Feeding difficulties in infancy, Constipation, Polydipsia OMIM:239200
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Ptosis ORPHA:330054
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Hereditary Acrokeratotic Poikiloderma
Papule, Skin ulcer, Hypopigmented skin patches, Thin skin ORPHA:2907
Osteogenesis Imperfecta, Type I
Thin skin OMIM:166200
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Webbed neck, Preauricular pit, Cafe-au-lait spot, Thin skin OMIM:617506
Fabry Disease
Malabsorption, Nausea and vomiting, Achalasia, Anorexia, Abdominal pain ORPHA:324
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Ptosis, Facial palsy OMIM:616313
Hengel-Maroofian-Schols Syndrome
Seizure, Thick eyebrow, Epicanthus, Ptosis, Synophrys OMIM:619641
Chromosome 5Q12 Deletion Syndrome
Decreased body mass index, Seizure, Febrile seizure (within the age range of 3 months to 6 years)... OMIM:615668
Apparent Mineralocorticoid Excess
Polydipsia ORPHA:320
Parathyroid Carcinoma
Peptic ulcer, Chondrocalcinosis, Polydipsia, Nausea and vomiting, Episodic abdominal pain, Consti... ORPHA:143
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Optic atrophy, Ptosis ORPHA:1154
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Facial paralysis, Failure to thrive, Facial diplegia, Ptosis OMIM:613559
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Seizure, Downslanted palpebral fissures, Long eyelashes, Ptosis, Synophrys OMIM:615009
Aromatic L-Amino Acid Decarboxylase Deficiency
Ptosis, Hyperhidrosis, Failure to thrive, Seizure ORPHA:35708
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Ptosis, Facial palsy OMIM:608931
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Obsessive-compulsive t... ORPHA:98793
Legius Syndrome
Epicanthus, Ptosis, Downslanted palpebral fissures OMIM:611431
Neonatal Adrenoleukodystrophy
Optic atrophy, Ptosis, Seizure ORPHA:44
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Ptosis OMIM:616324
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Telecanthus, Thick eyebrow, Absent lacrimal punctum, Absent eyelashes, Ptosis ORPHA:228396
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Ptosis ORPHA:1473
Blepharophimosis-Impaired Intellectual Development Syndrome
Highly arched eyebrow, Sparse eyebrow, Seizure, Long eyelashes, Thick eyebrow, Sparse eyelashes, ... OMIM:619293
Freeman-Sheldon Syndrome
Ptosis, Failure to thrive, Downslanted palpebral fissures ORPHA:2053
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Obsessive-compulsive t... ORPHA:177904
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Anhidrosis, Hypohidrosis, Hypoplastic-absent sebaceous glands, Thin skin OMIM:305100
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Obsessive-compulsive t... ORPHA:177901
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Ptosis, Failure to thrive OMIM:613561
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Ptosis ORPHA:663
Cardiofaciocutaneous Syndrome 4
Telecanthus, Sparse eyelashes, Epicanthus, Ptosis, Absent eyebrow, Hyperhidrosis, Optic nerve hyp... OMIM:615280
Myasthenic Syndrome, Congenital, 10
Ptosis OMIM:254300
Pituitary Dermoid And Epidermoid Cysts
Polydipsia, Nausea and vomiting ORPHA:91351
Congenital Disorder Of Glycosylation, Type Iio
Ptosis, Seizure, Downslanted palpebral fissures OMIM:616828
Stickler Syndrome, Type Vi
Ptosis, Downslanted palpebral fissures OMIM:620022
Spinocerebellar Ataxia, Autosomal Recessive 13
Ptosis, Seizure OMIM:614831
Kaufman Oculocerebrofacial Syndrome
Preauricular skin tag, Thin skin OMIM:244450
Nephronophthisis 11
Polydipsia OMIM:613550
Flynn-Aird Syndrome
Dermal atrophy OMIM:136300
Spastic Ataxia 5, Autosomal Recessive
Ptosis, Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure OMIM:614487
Focal Facial Dermal Dysplasia Type Iii
Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots, Hypopigmented skin patches ORPHA:1807
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Thin skin OMIM:615895
Hadziselimovic Syndrome
Epicanthus, Ptosis, Failure to thrive OMIM:612946
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15
Self-injurious behavior, Abnormal temper tantrums, Bulimia, Gastroparesis, Polyphagia, Feeding di... ORPHA:98754
Helix Syndrome
Polydipsia, Xerostomia OMIM:617671
Oculopharyngeal Muscular Dystrophy 2
Ptosis OMIM:620460
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Seizure, Decreased nerve conduction velocity, Facial d... OMIM:218000
Waardenburg Syndrome Type 1
Telecanthus, Thick eyebrow, Aganglionic megacolon, Ptosis, White eyebrow, White eyelashes, Synophrys ORPHA:894
Adnp Syndrome
Abnormal temper tantrums, Vomiting, Gastroesophageal reflux, Oral-pharyngeal dysphagia, Umbilical... ORPHA:404448
Terminal Osseous Dysplasia
Epicanthus, Telecanthus, Ptosis, Upslanted palpebral fissure OMIM:300244
Panhypophysitis
Nausea, Polydipsia, Poor appetite ORPHA:95513
Arterial Tortuosity Syndrome
Thin skin OMIM:208050
Fibrosis Of Extraocular Muscles, Congenital, 2
Congenital fibrosis of extraocular muscles, Bilateral ptosis OMIM:602078
Wolfram Syndrome
Gastrointestinal hemorrhage, Polydipsia, Malabsorption, Feeding difficulties in infancy, Constipa... ORPHA:3463
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Status epilepticus, Ptosis, Failure to thrive OMIM:619046
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis, Focal impaired awareness seizure, Bilateral tonic-clonic seizure OMIM:617468
Adams-Oliver Syndrome 3
Aplasia cutis congenita OMIM:614814
Intellectual Developmental Disorder, Autosomal Dominant 23
Synophrys, Ptosis, Upslanted palpebral fissure, Downslanted palpebral fissures OMIM:615761
Obesity Due To Congenital Leptin Deficiency
Polyphagia ORPHA:66628
Senior-Boichis Syndrome
Polydipsia, Aggressive behavior, Attention deficit hyperactivity disorder, Esophageal varix, Agit... ORPHA:84081
Myopathy, Centronuclear, 1
Ptosis, Facial palsy OMIM:160150
Frias Syndrome
Ptosis, Downslanted palpebral fissures OMIM:609640
Oculocerebral Hypopigmentation Syndrome, Cross Type
Thin skin ORPHA:2719
Nodular Non-Suppurative Panniculitis
Aplasia/Hypoplasia of the skin, Subcutaneous nodule, Panniculitis ORPHA:33577
De Barsy Syndrome
Thin skin ORPHA:2962
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Ptosis, Infantile spasms, Seizure OMIM:618731
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Slender build, Ptosis OMIM:615156
Obesity Due To Leptin Receptor Gene Deficiency
Polyphagia ORPHA:179494
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Thin skin ORPHA:536467
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Self-mutilation, Polyphagia, Feeding difficulties in infancy, Aggressive behavior, Nasogastric tu... ORPHA:251028
Spinocerebellar Ataxia Type 28
Ptosis ORPHA:101109
Myasthenic Syndrome, Congenital, 6, Presynaptic
Ptosis OMIM:254210
Nephronophthisis 3
Polydipsia OMIM:604387
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Sparse lateral eyebrow, Seizure, Downslanted palpebral fissures, Epileptic spasm, Telecanthus, My... ORPHA:314655
Combined Oxidative Phosphorylation Deficiency 47
Ptosis, Failure to thrive OMIM:618958
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Ptosis, Downslanted palpebral fissures ORPHA:457365
King-Denborough Syndrome
Ptosis, Failure to thrive, Bilateral ptosis, Downslanted palpebral fissures OMIM:619542
Noonan Syndrome 11
Ptosis, Downslanted palpebral fissures OMIM:618499
Paroxysmal Hemicrania
Conjunctival hyperemia, Palpebral edema, Ptosis, Focal sensory seizure with olfactory features ORPHA:157835
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3
Polydipsia OMIM:617994
Non-Distal Deletion 10Q
Epicanthus, Ptosis, Upslanted palpebral fissure, Synophrys ORPHA:1581
Craniosynostosis 3
Ptosis OMIM:615314
Hartsfield Syndrome
Telecanthus, Ptosis, Downslanted palpebral fissures ORPHA:2117
Senior-Loken Syndrome 1
Polydipsia OMIM:266900
Spondylodysplastic Ehlers-Danlos Syndrome
Atrophic scars, Numerous nevi, Thin skin ORPHA:536471
Childhood-Onset Nemaline Myopathy
Slender build, Ptosis, Facial diplegia ORPHA:171439
Seizures, Sensorineural Deafness, Ataxia, Impaired Intellectual Development, And Electrolyte Imbalance
Salt craving, Polydipsia OMIM:612780
Arterial Tortuosity Syndrome
Thin skin ORPHA:3342
Chromosome Xq26.3 Duplication Syndrome
Polyphagia OMIM:300942
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the extraocular muscles, Cachexia, Ptos... ORPHA:298
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Ptosis, Myoclonus, Generalized myoclonic seizure, Bilateral tonic-clonic seizure ORPHA:313772
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Failure to thrive, Seizure, Long palpebral fissure, Epicanthus, Ptosis OMIM:243310
Intellectual Developmental Disorder, Autosomal Dominant 34
Bilateral ptosis, Upslanted palpebral fissure, Epicanthus, Bilateral tonic-clonic seizure, Synophrys OMIM:616351
Proximal Myopathy With Extrapyramidal Signs
Optic atrophy, Ptosis ORPHA:401768
Renal Hypoplasia
Polydipsia ORPHA:93101
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Ptosis OMIM:605809
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Generalized non-motor (absence) seizure, Seizure, Upslanted palpebral fissure, Decreased body wei... OMIM:300260
Cerebroretinal Microangiopathy With Calcifications And Cysts 1
Thin skin OMIM:612199
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis OMIM:110150
Wagr Syndrome
Obesity, Ptosis ORPHA:893
Combined Oxidative Phosphorylation Deficiency 32
Optic atrophy, Ptosis, Seizure OMIM:617664
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Ptosis, Blepharophimosis, Seizure, Downslanted palpebral fissures OMIM:617333
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Long palpebral fissure, Highly arched eyebrow, Myoclonic seizure, Ptosis OMIM:620469
Microphthalmia, Syndromic 13
Ptosis OMIM:300915
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Ptosis, Optic nerve hypoplasia, Downslanted palpebral fissures OMIM:618736
Cleft Palate-Large Ears-Small Head Syndrome
Ptosis ORPHA:2013
Oligomeganephronia
Polydipsia, Congenital diaphragmatic hernia ORPHA:2260
Neurofibromatosis-Noonan Syndrome
Ptosis, Downslanted palpebral fissures ORPHA:638
Paternal Uniparental Disomy Of Chromosome 1
Abnormal dental enamel morphology, Polyphagia ORPHA:251004
Stiff Skin Syndrome
Aplasia/Hypoplasia of the skin, Subcutaneous nodule ORPHA:2833
Noonan Syndrome 8
Failure to thrive, Downslanted palpebral fissures, Large for gestational age, Epicanthus, Ptosis OMIM:615355
Myasthenic Syndrome, Congenital, 5
Ptosis OMIM:603034
Spinocerebellar Ataxia 47
Ptosis, Seizure OMIM:617931
Frontofacionasal Dysplasia
Telecanthus, Absent inner eyelashes, Upper eyelid coloboma, Ptosis, Blepharophimosis, Aplasia/Hyp... ORPHA:1791
Sim1-Related Prader-Willi-Like Syndrome
Abnormal temper tantrums, Xerostomia, Nasogastric tube feeding, Polyphagia, Skin-picking ORPHA:398079
Coffin-Siris Syndrome 3
Ptosis, Long eyelashes, Thick eyebrow, Seizure OMIM:614608
Rere-Related Neurodevelopmental Syndrome
Optic atrophy, Seizure, Epicanthus, Broad eyebrow, Ptosis, Blepharophimosis ORPHA:494344
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Ptosis ORPHA:2229
Rubinstein-Taybi Syndrome
Highly arched eyebrow, Seizure, Downslanted palpebral fissures, Failure to thrive in infancy, Tel... ORPHA:783
Linear Skin Defects With Multiple Congenital Anomalies 2
Aplasia cutis congenita, Asymmetric, linear skin defects OMIM:300887
Borjeson-Forssman-Lehmann Syndrome
Seizure, Thick eyebrow, Ptosis, Blepharophimosis, Truncal obesity ORPHA:127
X-Linked Intellectual Disability Due To Gria3 Mutations
Eversion of lateral third of lower eyelids, Seizure, Slender build, Myoclonus, Ptosis, Bilateral ... ORPHA:364028
Sunct Syndrome
Conjunctival hyperemia, Ptosis, Hyperhidrosis, Palpebral edema, Episodic hyperhidrosis ORPHA:57145
Autosomal Recessive Progressive External Ophthalmoplegia
Optic atrophy, Ptosis, Facial palsy ORPHA:254886
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Bilateral tonic-clonic seizure with generalized onset, Ptosis, Seizure OMIM:618451
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Self-injurious behavior, Polydipsia, Polyphagia, Gastrointestinal dysmotility, Aggressive behavio... ORPHA:293987
Houge-Janssens Syndrome 1
Multifocal seizures, Ptosis, Seizure, Downslanted palpebral fissures OMIM:616355
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Generalized-onset seizure, Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Failure to thrive, Seizure, Downslanted palpebral fissures, Optic disc col... ORPHA:2995
Developmental And Epileptic Encephalopathy 110
Ptosis, Focal impaired awareness hemiclonic seizure, Generalized non-motor (absence) seizure OMIM:620149
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Ptosis ORPHA:1875
Ohdo Syndrome
Sparse eyebrow, Seizure, Epicanthus, Ptosis, Blepharophimosis OMIM:249620
Prader-Willi Syndrome
Vomiting, Xerostomia, Gastroparesis, Polyphagia, Attention deficit hyperactivity disorder, Nasoga... ORPHA:739
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Seizure, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus, Ptosis OMIM:618659
Joubert Syndrome 30
Ptosis, Seizure OMIM:617622
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Epicanthus, Ptosis, Blepharophimosis ORPHA:3236
4Q21 Microdeletion Syndrome
Long eyelashes, Ptosis, Seizure, Synophrys ORPHA:238750
Visceral Myopathy 1
Microcolon, Diarrhea, Vomiting, Intestinal pseudo-obstruction, Malnutrition, Gastroparesis, Megad... OMIM:155310
Bachmann-Bupp Syndrome
Downslanted palpebral fissures, Large for gestational age, Sparse eyelashes, Ptosis, Absent eyebr... OMIM:619075
7Q11.23 Microduplication Syndrome
Self-injurious behavior, Congenital diaphragmatic hernia, Chronic constipation, Inguinal hernia, ... ORPHA:96121
Adult Intestinal Botulism
Ptosis ORPHA:178487
Congenital Myopathy 6 With Ophthalmoplegia
Ptosis OMIM:605637
Myopathy With Extrapyramidal Signs
Optic atrophy, Seizure, Epicanthus, Ptosis, Status epilepticus OMIM:615673
Infantile Nephropathic Cystinosis
Vomiting, Polydipsia, Constipation ORPHA:411629
Ataxia-Telangiectasia
Aplasia/Hypoplasia of the skin, Multiple cafe-au-lait spots ORPHA:100
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
Chromosome 19Q13.11 Deletion Syndrome, Distal
Short palpebral fissure, Sparse eyebrow, Failure to thrive, Febrile seizure (within the age