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Gene: Nrtn MGI:108417

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
neurturin
Synonyms:
N/A

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 Nrtn 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.

The table below shows human diseases associated to Nrtn by orthology or direct annotation.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin... ORPHA:388

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Erythermalgia, Primary
Diarrhea, Xerostomia, Hyperhidrosis, Keratoconjunctivitis sicca, Constipation, Abnormal autonomic... OMIM:133020
Mungan Syndrome
Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Hypoperistalsis, Abdominal pain,... OMIM:611376
Generalized Eruptive Keratoacanthoma
Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis, Dysphagia, Ectropion ORPHA:411777
Epithelial Recurrent Erosion Dystrophy
Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera... ORPHA:293381
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis OMIM:620086
Horner Syndrome, Congenital
Congenital Horner syndrome, Deeply set eye, Heterochromia iridis OMIM:143000
Cockayne Syndrome Type 1
Absent brainstem auditory responses, Cataract, Tremor, Cryptorchidism, Diarrhea, Optic atrophy, U... ORPHA:90321
Isolated Congenital Alacrima
Keratitis, Corneal erosion, Lacrimal gland hypoplasia, Conjunctivitis, Lacrimal punctal atresia, ... ORPHA:91416
Keratoendotheliitis Fugax Hereditaria
Keratitis, Epiphora, Conjunctival hyperemia, Opacification of the corneal stroma OMIM:148200
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease
Absent brainstem auditory responses, Torticollis, White eyelashes, White eyebrow, Aganglionic meg... OMIM:609136
Achalasia-Addisonianism-Alacrima Syndrome
Orthostatic hypotension, Decreased circulating cortisol level, Optic atrophy, Anisocoria, Adrenoc... OMIM:231550
Ring Dermoid Of Cornea
Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con... OMIM:180550
Agel Amyloidosis
Cataract, Facial palsy, Bilateral ptosis, Xerostomia, Keratoconjunctivitis sicca, Blepharochalasi... ORPHA:85448
Achalasia, Familial Esophageal
Keratoconjunctivitis sicca, Achalasia, Xerostomia, Rheumatoid arthritis OMIM:200400
Yao Syndrome
Inflammatory abnormality of the skin, Pericarditis, Skin rash, Abdominal pain, Diarrhea, Xerostom... OMIM:617321
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Orthostatic hypotension, Esophageal stenosis, Feeding difficulties, Anisocoria, Hypohidrosis, Adr... OMIM:615510
Triple A Syndrome
Optic atrophy, Adrenal insufficiency, Anterior hypopituitarism, Achalasia, Iris coloboma ORPHA:869
Blepharonasofacial Malformation Syndrome
Epicanthus, Telecanthus, Lacrimation abnormality, Abnormal eyelash morphology, Cryptorchidism, Op... ORPHA:1252
Infant Botulism
Ptosis, Anorexia, Abdominal pain, Bowel incontinence, Xerostomia, Keratoconjunctivitis sicca, Con... ORPHA:178478
Cataract-Growth Hormone Deficiency-Sensory Neuropathy-Sensorineural Hearing Loss-Skeletal Dysplasia Syndrome
Cataract, Decreased response to growth hormone stimulation test, Developmental cataract, Achalasi... ORPHA:436174
Atopic Keratoconjunctivitis
Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s... ORPHA:163934
Limbal Stem Cell Deficiency
Lacrimation abnormality, Opacification of the corneal epithelium, Generalized opacification of th... ORPHA:171673
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease
Abnormal eyebrow morphology, Telecanthus, Aganglionic megacolon, Abdominal pain, Ileus, Hypohidro... ORPHA:163746
Classic Progressive Supranuclear Palsy Syndrome
Axial dystonia, Tremor, Neuromuscular dysphagia, Blepharospasm, Dystonia, Conjunctival hyperemia,... ORPHA:240071
Trichothiodystrophy 4, Nonphotosensitive
Epicanthus, Sparse eyelashes, Optic atrophy, Microcornea, Keratoconjunctivitis sicca OMIM:234050
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Recurrent skin infections, Gastrointestinal dysmotility, Corneal scarring, Hypohidrosis, Corneal ... OMIM:616488
Oculopharyngeal Muscular Dystrophy 1
Ptosis, Facial palsy, Dysphagia, Progressive ptosis OMIM:164300
Oculomotor-Levator Synkinesis
Ptosis, Eyelid retraction, Abnormal eyelid morphology OMIM:151610
Lambert-Eaton Myasthenic Syndrome
Xerostomia, Abnormality of the orbital region, Hypohidrosis, Keratoconjunctivitis sicca, Constipa... ORPHA:43393
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Recurrent bacterial skin infections, Sparse eyelashes, Trichiasis, Sparse eyebrow, Keratitis, Cor... OMIM:148210
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia
Hypoparathyroidism, Atrophic gastritis, Chronic active hepatitis, Cataract, Female hypogonadism, ... OMIM:240300
Ifap Syndrome 2
Cataract, Angular cheilitis, Keratitis, Posterior blepharitis, Keratoconjunctivitis sicca OMIM:619016
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia
Cataract, Decreased response to growth hormone stimulation test, Central adrenal insufficiency, D... OMIM:616007
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Corneal dystrophy, Sclerocornea, Hypohidrosis, Microcornea, Keratoconjunctivitis sicca ORPHA:1806
Neurotrophic Keratopathy
Anterior uveitis, Lacrimation abnormality, Abnormal fifth cranial nerve morphology, Corneal scarr... ORPHA:137596
Achalasia-Microcephaly Syndrome
Epicanthus, Achalasia ORPHA:929
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Dyspepsia, Cataract, Esophageal stenosis, Vaginal neoplasm, Hypoperistalsis, Keratitis, Esophagea... ORPHA:1018
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive
Keratoconus, Decreased lacrimation, Conjunctivitis, Erythroderma OMIM:242150
Xeroderma Pigmentosum, Complementation Group D
Cataract, Entropion, Keratitis, Choreoathetosis, Keratoconjunctivitis sicca, Conjunctivitis, Corn... OMIM:278730
Myasthenic Syndrome, Congenital, 15
Fatigable weakness, Ptosis OMIM:616227
Warburg Micro Syndrome 1
External genital hypoplasia, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, ... OMIM:600118
Reynolds Syndrome
Skin rash, Abnormal gastric mucosa morphology, Xerostomia, Arthritis, Keratoconjunctivitis sicca,... ORPHA:779
Kid Syndrome
Angular cheilitis, Posterior blepharitis, Recurrent cutaneous fungal infections, Conjunctivitis, ... ORPHA:477
Progressive Hemifacial Atrophy
Deeply set eye, Heterochromia iridis, Ptosis ORPHA:1214
Amyotrophy, Hereditary Neuralgic
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Deeply set eye, Brachial plexus neuropathy... OMIM:162100
Myasthenic Syndrome, Congenital, 18
Fatigable weakness, Ptosis OMIM:616330
Autoinflammation With Arthritis And Dyskeratosis
Thyroiditis, Uveitis, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization OMIM:617388
Vernal Keratoconjunctivitis
Lacrimation abnormality, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate ke... ORPHA:70476
Mitochondrial Complex Iv Deficiency, Nuclear Type 14
Deeply set eye, Epicanthus OMIM:619058
Frontonasal Dysplasia 2
Telecanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Bilateral cryptorchidism, Hypohidro... OMIM:613451
Waardenburg Syndrome
Abnormality of the gastrointestinal tract, Abnormal eyebrow morphology, Telecanthus, Intestinal o... ORPHA:3440
Tetrasomy 18P
Epicanthus, Achalasia, Downslanted palpebral fissures ORPHA:3307
Cubitus Valgus With Impaired Intellectual Development And Unusual Facies
Deeply set eye, Downslanted palpebral fissures OMIM:300471
Nasopalpebral Lipoma-Coloboma Syndrome
Absent lacrimal punctum, Lipomas of eyelids, Telecanthus, Hypertelorism, Sparse eyebrow, Upper ey... OMIM:167730
Waardenburg Syndrome Type 1
Telecanthus, White eyelashes, White eyebrow, Aganglionic megacolon, Lacrimation abnormality, Syno... ORPHA:894
Myasthenic Syndrome, Congenital, 13
Fatigable weakness, Ptosis OMIM:614750
Borjeson-Forssman-Lehmann Syndrome
Cryptorchidism, Hypoplasia of the prostate, Narrow palpebral fissure, Deeply set eye, Blepharophi... OMIM:301900
Harel-Yoon Syndrome
Corneal opacity, Optic atrophy, Developmental cataract, Upslanted palpebral fissure, Feeding diff... OMIM:617183
Posterior Column Ataxia With Retinitis Pigmentosa
Cataract, Optic atrophy, Achalasia, Decreased sensory nerve conduction velocity, Attenuation of r... OMIM:609033
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Plus
Streak ovary, Duplicated lacrimal punctum, Highly arched eyebrow, Elevated circulating luteinizin... ORPHA:572333
Lipoma Of The Conjunctiva
Conjunctival lipoma OMIM:151700
Sjogren Syndrome
Tubulointerstitial nephritis, Keratoconjunctivitis sicca, Xerostomia, Rheumatoid arthritis OMIM:270150
Tenorio Syndrome
Telecanthus, Recurrent pneumonia, Keratoconjunctivitis sicca, Gastroesophageal reflux, Recurrent ... OMIM:616260
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Orthostatic hypotension, Feeding difficulties in infancy, Episodic hyperhidrosis, Diarrhea, Vomit... OMIM:223900
O'Donnell-Luria-Rodan Syndrome
Cryptorchidism, Feeding difficulties, Deeply set eye, Vomiting, Downslanted palpebral fissures OMIM:618512
Pierpont Syndrome
Telecanthus, Hypertelorism, Cryptorchidism, Micropenis, Microcornea, Narrow palpebral fissure, Fe... OMIM:602342
Marcus Gunn Phenomenon
Unilateral ptosis, Congenital ptosis OMIM:154600
Myasthenic Syndrome, Congenital, 17
Feeding difficulties, Ptosis OMIM:616304
Cryoglobulinemic Vasculitis
Gastrointestinal hemorrhage, Viral hepatitis, Abdominal pain, Arthritis, Keratoconjunctivitis sic... ORPHA:91138
Dystonia-Deafness Syndrome 1
Cataract, Generalized dystonia, Oculogyric crisis, Leg dystonia, Pseudobulbar paralysis, Dysphagi... OMIM:607371
Familial Dysautonomia
Orthostatic hypotension, Corneal opacity, Feeding difficulties in infancy, Abnormal pupil morphol... ORPHA:1764
14Q11.2 Microdeletion Syndrome
Epicanthus, Highly arched eyebrow, Hypertelorism, Deeply set eye, Blepharophimosis, Sparse latera... ORPHA:261120
Antisynthetase Syndrome
Myositis, Skin rash, Myocarditis, Xerostomia, Keratoconjunctivitis sicca, Dysphagia ORPHA:81
Cleft Palate, Cardiac Defects, And Impaired Intellectual Development
Laterally extended eyebrow, Highly arched eyebrow, Sparse eyebrow, Feeding difficulties, Upslante... OMIM:600987
Graft Versus Host Disease
Fasciitis, Myositis, Maculopapular exanthema, Pneumonia, Inflammatory abnormality of the skin, Ab... ORPHA:39812
Dermatitis, Atopic
Keratoconus, Cataract, Recurrent skin infections, Eczema, Allergic rhinitis, Atopic dermatitis, C... OMIM:603165
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Recurrent otitis media, Lon... OMIM:602562
American Trypanosomiasis
Skin rash, Aganglionic megacolon, Abnormal large intestine physiology, Abdominal pain, Myocarditi... ORPHA:3386
Cockayne Syndrome
Feeding difficulties in infancy, Deeply set eye, Lentiglobus, Retinal arteriolar constriction, Ga... ORPHA:191
Stuve-Wiedemann Syndrome 1
Feeding difficulties, Hyperhidrosis, Deeply set eye, Abnormal autonomic nervous system physiology... OMIM:601559
Hydroa Vacciniforme
Superficial dermal perivascular inflammatory infiltrate, Eczema, Keratitis, Red eye, Epiphora, Ma... ORPHA:330058
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Hypospadias, Sparse eyebrow, Cryptorc... ORPHA:495875
Holocarboxylase Synthetase Deficiency
Nausea and vomiting, Eczema, Anorexia, Keratoconjunctivitis, Perioral eczema ORPHA:79242
Mucoepithelial Dysplasia, Hereditary
Cataract, Pneumonia, Recurrent pneumonia, Chronic diarrhea, Chronic mucocutaneous candidiasis, Ke... OMIM:158310
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome
Epicanthus, Oral-pharyngeal dysphagia, Tremor, Synophrys, Deeply set eye, Long eyelashes, Dystoni... ORPHA:480907
Mixed Connective Tissue Disease
Gastrointestinal hemorrhage, Pericarditis, Myositis, Skin rash, Gastritis, Myocarditis, Xerostomi... ORPHA:809
Lacrimoauriculodentodigital Syndrome 2
Absent lacrimal punctum, Lacrimal duct atresia, Lacrimal duct aplasia, Conjunctivitis, Alacrima OMIM:620192
Visceral Myopathy 2
Necrotizing enterocolitis, Intestinal obstruction, Gastroparesis, Intestinal malrotation, Intesti... OMIM:619350
Neurodevelopmental Disorder With Hypotonia, Seizures, And Absent Language
Epicanthus, Telecanthus, Sparse eyebrow, Deeply set eye, Dystonia, Nasogastric tube feeding, Thic... OMIM:617268
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Generalized dystonia, Hypertelorism, Dysphagia, Achalasia ORPHA:79107
Hemifacial Atrophy, Progressive
Blepharophimosis, Deeply set eye, Horner syndrome OMIM:141300
Marfanoid-Progeroid-Lipodystrophy Syndrome
Ectopia lentis, Feeding difficulties in infancy, Deeply set eye, Keratoconjunctivitis sicca, Prop... OMIM:616914
Igg4-Related Dacryoadenitis And Sialadenitis
Myositis, Palpebral edema, Enlarged lacrimal glands, Thyroiditis, Xerostomia, Abnormality of the ... ORPHA:79078
Trichothiodystrophy 1, Photosensitive
Intestinal obstruction, Cataract, Malabsorption, Chronic diarrhea, Microcornea, Keratoconjunctivi... OMIM:601675
Trichothiodystrophy
Congenital exfoliative erythroderma, Epicanthus, Eczema, Hypertelorism, Cryptorchidism, Developme... ORPHA:33364
Chromomycosis
Keratitis, Eyelid retraction, Keratoconjunctivitis sicca, Ectropion ORPHA:182
Recon Progeroid Syndrome
Red eye, Deeply set eye, Keratoconjunctivitis sicca, Absent lower eyelashes OMIM:620370
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Eczema, Xerostomia, Hypohidrosis, Keratoconjunctivitis sicca, Breast aplasia, Inflamma... ORPHA:238468
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic disc pallor, Lagophthalmos, Bilateral ptosis, Optic atrophy, Corneal scarring, Athetosis, C... ORPHA:404454
Sunct Syndrome
Palpebral edema, Episodic hyperhidrosis, Hyperhidrosis, Vomiting, Increased tear production, Conj... ORPHA:57145
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction
Nasal regurgitation, Facial palsy, Dysphagia, Ptosis OMIM:617732
Pierpont Syndrome
Telecanthus, Hypertelorism, Cryptorchidism, Microcornea, Narrow palpebral fissure, Deeply set eye ORPHA:487825
Ptosis, Hereditary Congenital 2
Ptosis OMIM:300245
Microsporidiosis
Myositis, Sinusitis, Cholangitis, Anorexia, Lymphadenitis, Abnormality of the parathyroid gland, ... ORPHA:2552
10Q22.3Q23.3 Microduplication Syndrome
Hypospadias, Hypotelorism, Upslanted palpebral fissure, Deeply set eye, Ambiguous genitalia, Chro... ORPHA:276422
Nasolacrimal Duct Cyst
Chronic irritative conjunctivitis, Abnormal lacrimal sac morphology, Dacryocystitis, Ectropion of... ORPHA:141083
Cornelia De Lange Syndrome 5
Telecanthus, Highly arched eyebrow, Hypertelorism, Feeding difficulties in infancy, Cryptorchidis... OMIM:300882
Intellectual Developmental Disorder, Autosomal Recessive 45
Highly arched eyebrow, Hypertelorism, Synophrys, Upslanted palpebral fissure, Deeply set eye, Dow... OMIM:615979
Immunodeficiency 70
Furuncle, Celiac disease, Retinal vasculitis, Colitis, Recurrent sinusitis, Achalasia OMIM:618969
Wilson-Turner Syndrome
Cataract, Hypogonadotropic hypogonadism, Cryptorchidism, Deeply set eye, Thick eyebrow ORPHA:3459
Lacrimoauriculodentodigital Syndrome
Xerostomia, Abnormal salivary gland morphology, Increased corneal thickness, Hypoplasia of the la... ORPHA:2363
Oculomotor-Abducens Synkinesis
Ptosis OMIM:619215
Chung-Jansen Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Feeding difficulties, Upslanted palpebral f... OMIM:617991
Crouzon Syndrome
Hypertelorism, Optic atrophy, Proptosis, Conjunctivitis, Iris coloboma, Ptosis ORPHA:207
Fibrosis Of Extraocular Muscles, Congenital, 5
Ptosis OMIM:616219
Spastic Ataxia 1, Autosomal Dominant
Dystonia, Dysphagia, Ptosis OMIM:108600
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities
Bilateral ptosis, Downslanted palpebral fissures, Deeply set eye, Feeding difficulties OMIM:618859
Severe Intellectual Disability-Poor Language-Strabismus-Grimacing Face-Long Fingers Syndrome
Epicanthus, Hypospadias, Optic nerve hypoplasia, Hyperopic astigmatism, Hypertelorism, Feeding di... ORPHA:363686
Cockayne Syndrome Type 3
Optic disc pallor, Neurogenic bladder, Cataract, Feeding difficulties, Microcornea, Deeply set ey... ORPHA:90324
Central Hypoventilation Syndrome, Congenital, 1
Aganglionic megacolon, Feeding difficulties, Hyperhidrosis, Chronic constipation, Abnormal autono... OMIM:209880
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Alacri... OMIM:103420
Ptosis, Strabismus, And Ectopic Pupils
Ptosis OMIM:178330
Nabais Sa-De Vries Syndrome, Type 1
Epicanthus, Telecanthus, Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Narrow palpebr... OMIM:618828
Myasthenic Syndrome, Congenital, 8
Ptosis OMIM:615120
Keratosis Pilaris Atrophicans
Absent eyelashes, Epiphora, Sparse eyebrow OMIM:604093
Intellectual Developmental Disorder, X-Linked 108
Deeply set eye, Downslanted palpebral fissures OMIM:301024
Autoimmune Polyendocrine Syndrome, Type Ii
Cataract, Hyperthyroidism, Band keratopathy, Primary adrenal insufficiency, Hepatitis, Chronic mu... OMIM:269200
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Anorexia, Oral-pharyngeal dysphagia, Intestinal perforation, Xerostomia, Gastrointestinal inflamm... ORPHA:95455
Deafness, Autosomal Dominant 34, With Or Without Inflammation
Arthritis, Conjunctivitis OMIM:617772
Warburg Micro Syndrome 4
Decreased motor nerve conduction velocity, Small scrotum, Feeding difficulties in infancy, Crypto... OMIM:615663
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy, Epiphora OMIM:122100
Focal Facial Dermal Dysplasia Type Iii
Epicanthus, Sparse lower eyelashes, Lacrimation abnormality, Highly arched eyebrow, Distichiasis,... ORPHA:1807
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Corneal opacity, Optic nerve hypoplasia, Cryptorchidism, Optic atrophy, Feeding difficu... ORPHA:496790
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Abdominal distention, Hypoperistalsis, Mydriasis OMIM:619365
Epithelial Recurrent Erosion Dystrophy
Corneal erosion, Epiphora OMIM:122400
Autosomal Agammaglobulinemia
Epicanthus, Sinusitis, Osteomyelitis, Skin rash, Recurrent skin infections, Malabsorption, Hypert... ORPHA:33110
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb
Epicanthus, Hypertelorism, Feeding difficulties, Hypotelorism, Narrow palpebral fissure, Deeply s... OMIM:613604
Gand Syndrome
Blepharophimosis, Narrow palpebral fissure, Deeply set eye, Hypertelorism OMIM:615074
Lacrimal Duct Defect
Sinusitis, Dacryocystitis, Lacrimal duct atresia, Conjunctivitis, Dacryocystocele, Epiphora OMIM:149700
Zika Virus Disease
Maculopapular exanthema, Skin rash, Arthritis, Abnormal optic disc morphology, Conjunctivitis, Le... ORPHA:448237
Arthrogryposis-Oculomotor Limitation-Electroretinal Anomalies Syndrome
Deeply set eye, Optic atrophy, Ptosis ORPHA:1154
Paroxysmal Hemicrania
Nausea and vomiting, Palpebral edema, Rhinitis, Conjunctival hyperemia, Epiphora, Ptosis ORPHA:157835
Peripheral Motor Neuropathy-Dysautonomia Syndrome
Achalasia, Hyperhidrosis ORPHA:2400
Desanto-Shinawi Syndrome
Hypertelorism, Synophrys, Feeding difficulties, Deeply set eye, Astigmatism, Constipation, Thick ... OMIM:616708
Parkinsonism-Dystonia 2, Infantile-Onset
Oculogyric crisis, Tremor, Hyperhidrosis, Abnormal autonomic nervous system physiology, Dystonia,... OMIM:618049
Autoimmune Polyendocrinopathy Type 3
Atrophic gastritis, Hypergonadotropic hypogonadism, Autoimmune hypoparathyroidism, Celiac disease... ORPHA:227982
Autoimmune Polyendocrinopathy Type 4
Atrophic gastritis, Hypergonadotropic hypogonadism, Celiac disease, Iridocyclitis, Xerostomia, He... ORPHA:227990
Congenital Disorder Of Deglycosylation 1
Ptosis, Decreased sensory nerve conduction velocity, Anhidrosis, Corneal opacity, Oral-pharyngeal... OMIM:615273
5Q14.3 Microdeletion Syndrome
Optic nerve hypoplasia, Feeding difficulties, Upslanted palpebral fissure, Deeply set eye, Thick ... ORPHA:228384
Lacrimoauriculodentodigital Syndrome 3
Absent lacrimal punctum, Epicanthus, Absent eyelashes, Xerostomia, Feeding difficulties, Lacrimal... OMIM:620193
Cockayne Syndrome B
Anhidrosis, Abnormal auditory evoked potentials, Tremor, Decreased nerve conduction velocity, Cry... OMIM:133540
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Periorbital dermoid cyst, Conjunctivitis, Alacrima, Lacrimal duct stenosis OMIM:615560
Riboflavin Transporter Deficiency
Optic disc pallor, Iris hypopigmentation, Facial palsy, Tremor, Abnormal cranial nerve morphology... ORPHA:97229
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive
Pneumonia, Purulent rhinitis, Diarrhea, Arthritis, Conjunctivitis, Otitis media OMIM:601457
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Achalasia, Alacrima, Dysphagia ORPHA:289483
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria, Achalasia, Alacrima, Dysphagia OMIM:300858
Freeman-Sheldon Syndrome
Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, Deeply set eye, Downslanted palpe... ORPHA:2053
Keratosis Follicularis Spinulosa Decalvans, X-Linked
Sparse eyelashes, Corneal dystrophy, Keratitis, Sparse eyebrow, Folliculitis, Conjunctivitis, Ble... OMIM:308800
2p15-16.1 microdeletion syndrome
Feeding difficulties in infancy, Telecanthus, Downslanted palpebral fissures, Ptosis DECIPHER:70
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome
Sparse eyebrow, Hypothyroidism, Lacrimation abnormality, Hypohidrosis ORPHA:1882
Moyamoya Angiopathy-Short Stature-Facial Dysmorphism-Hypergonadotropic Hypogonadism Syndrome
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... ORPHA:280679
Gelatinous Drop-Like Corneal Dystrophy
Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival... ORPHA:98957
Nasopalpebral Lipoma-Coloboma Syndrome
Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph... ORPHA:2399
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies
Hypertelorism, Feeding difficulties in infancy, Optic atrophy, Hypotelorism, Upslanted palpebral ... OMIM:618672
Myasthenic Syndrome, Congenital, 23, Presynaptic
Fatigable weakness, Poor suck, Ptosis OMIM:618197
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome
Highly arched eyebrow, Tremor, Deeply set eye, Downslanted palpebral fissures, Ptosis ORPHA:457365
Corneal Dystrophy, Meesmann, 2
Epiphora, Recurrent corneal erosions OMIM:618767
Alazami Syndrome
Narrow palpebral fissure, Retractile testis, Deeply set eye, Short palpebral fissure OMIM:615071
Rhyns Syndrome
Deeply set eye, Hypopituitarism, Ptosis ORPHA:140976
Phip-Related Behavioral Problems-Intellectual Disability-Obesity-Dysmorphic Features Syndrome
Epicanthus, Hypertelorism, Almond-shaped palpebral fissure, Cryptorchidism, Synophrys, Feeding di... ORPHA:589905
Chromosome Xq13 Duplication Syndrome
Medial flaring of the eyebrow, Ptosis, Epicanthus, Highly arched eyebrow, Almond-shaped palpebral... OMIM:301069
Toriello-Lacassie-Droste Syndrome
Abnormal penis morphology, Epicanthus, Telecanthus, Aganglionic megacolon, Hypospadias, Blepharop... ORPHA:3339
Cockayne Syndrome A
Anhidrosis, Cataract, Abnormal auditory evoked potentials, Tremor, Decreased nerve conduction vel... OMIM:216400
Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due To Dguok Deficiency
Bilateral ptosis, Cataract, Optic atrophy, Dysphagia ORPHA:329314
Behçet Disease
Nausea and vomiting, Increased inflammatory response, Myositis, Cataract, Acne, Pericarditis, Ano... ORPHA:117
Borjeson-Forssman-Lehmann Syndrome
Hypoplasia of penis, Cataract, Small scrotum, Feeding difficulties in infancy, Cryptorchidism, De... ORPHA:127
Muckle-Wells Syndrome
Episcleritis, Skin rash, Abdominal pain, Optic atrophy, Uveitis, Arthritis, Conjunctivitis, Recur... ORPHA:575
Visceral Neuropathy, Familial, 1, Autosomal Recessive
Colonic diverticula, Aganglionic megacolon, Intestinal malrotation, Intestinal pseudo-obstruction... OMIM:243180
8P23.1 Duplication Syndrome
Deeply set eye, Adrenal insufficiency, Highly arched eyebrow, Hypertelorism ORPHA:251076
20P13 Microdeletion Syndrome
Telecanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Microcornea, Narrow palpebral fissu... ORPHA:313781
Facial Dysmorphism, Hypertrichosis, Epilepsy, Intellectual/Developmental Delay, And Gingival Overgrowth Syndrome
Optic nerve hypoplasia, Synophrys, Feeding difficulties, Deeply set eye, Long eyelashes, Horizont... OMIM:618381
Joubert Syndrome 26
Decreased response to growth hormone stimulation test, Hypertelorism, Central hypothyroidism, Mic... OMIM:616784
Xq27.3Q28 Duplication Syndrome
Cryptorchidism, Hypogonadism, Decreased testicular size, Deeply set eye ORPHA:261483
Usmani-Riazuddin Syndrome, Autosomal Recessive
Hypertelorism, Epicanthus, Conjunctival hyperemia OMIM:619548
Dacryocystitis-Osteopoikilosis Syndrome
Dacryocystitis, Lacrimation abnormality ORPHA:1562
Ptosis-Vocal Cord Paralysis Syndrome
Ptosis ORPHA:2997
Arthrogryposis, Distal, Type 5
Keratoconus, Epicanthus, Keratoglobus, Deeply set eye, Astigmatism, Blepharophimosis, Ptosis OMIM:108145
Sulfite Oxidase Deficiency, Isolated
Generalized dystonia, Eczema, Ectopia lentis, Choreoathetosis, Deeply set eye, Episodic vomiting OMIM:272300
Immunodeficiency 46
Chronic diarrhea, Conjunctivitis, Chronic oral candidiasis OMIM:616740
Lymphoid Interstitial Pneumonia
Skin rash, Eczema, Bronchiectasis, Keratoconjunctivitis sicca, Rheumatoid arthritis ORPHA:79128
Trisomy 8P
Hypertelorism, Cryptorchidism, Malrotation of small bowel, Annular pancreas, Upslanted palpebral ... ORPHA:264450
Periodic Fever, Familial, Autosomal Dominant
Gastrointestinal hemorrhage, Myositis, Skin rash, Maculopapular exanthema, Abdominal pain, Chroni... OMIM:142680
Myasthenic Syndrome, Congenital, 9, Associated With Acetylcholine Receptor Deficiency
Fatigable weakness, Facial palsy, Dysphagia, Ptosis OMIM:616325
Myasthenic Syndrome, Congenital, 3B, Fast-Channel
Fatigable weakness, Feeding difficulties, Facial palsy, Ptosis OMIM:616322
Primary Sjögren Syndrome
Myositis, Chronic active hepatitis, Glomerulonephritis, Lymphocytic interstitial pneumonia, Abnor... ORPHA:289390
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome
Deeply set eye, Synophrys, Thick eyebrow ORPHA:2429
Immunodeficiency, Common Variable, 2
Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Recurrent oti... OMIM:240500
Perlman Syndrome
Epicanthus, Hypoplasia of penis, Cryptorchidism, Abnormal pancreas morphology, Deeply set eye, Pt... ORPHA:2849
Immunodeficiency, Common Variable, 3
Recurrent otitis media, Conjunctivitis, Recurrent sinusitis OMIM:613493
Familial Cold Urticaria
Nausea and vomiting, Abdominal pain, Hyperhidrosis, Arthritis, Conjunctivitis ORPHA:47045
Scleromyxedema
Abnormality of the gastrointestinal tract, Abnormality of thyroid physiology, Hypoperistalsis, Ga... ORPHA:167635
Luo-Schoch-Yamamoto Syndrome
Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Feeding difficulties in in... OMIM:619460
Cdkl5-Deficiency Disorder
Deeply set eye, Synophrys ORPHA:505652
Ophthalmoplegic Neuromuscular Disorder With Abnormal Mitochondria
Abnormal cranial nerve morphology, Ptosis OMIM:258470
Herpes Simplex Virus Stromal Keratitis
Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Corneal ... ORPHA:137599
Intellectual Developmental Disorder, Autosomal Recessive 79
Deeply set eye, Feeding difficulties, Eczema, Intention tremor OMIM:620393
Achalasia-Microcephaly Syndrome
Achalasia OMIM:200450
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 18
Cataract, Tremor, Feeding difficulties, Athetosis, Esophagitis, Dystonia, Achalasia, Alacrima OMIM:615356
Congenital Arthrogryposis With Anterior Horn Cell Disease
Abnormal anterior horn cell morphology, Paucity of anterior horn motor neurons, Cryptorchidism, F... OMIM:611890
Peroxisomal Fatty Acyl-Coa Reductase 1 Disorder
Hypertelorism, Cataract, Highly arched eyebrow, Ptosis OMIM:616154
Congenital Disorder Of Glycosylation, Type 2V
Epicanthus, Hypertelorism, Nasogastric tube feeding in infancy, Hydrocele testis, Narrow palpebra... OMIM:619493
Deafness-Vitiligo-Achalasia Syndrome
Achalasia ORPHA:3239
Classical-Like Ehlers-Danlos Syndrome Type 2
Bilateral ptosis, Cryptorchidism, Keratoconjunctivitis sicca, Astigmatism, Periodontitis ORPHA:536532
Myasthenic Syndrome, Congenital, 3A, Slow-Channel
Prolonged miniature endplate currents, Decreased miniature endplate potentials, Dysphagia, Ptosis OMIM:616321
Agammaglobulinemia 6, Autosomal Recessive
Diarrhea, Recurrent pneumonia, Conjunctivitis, Recurrent otitis media, Chronic sinusitis OMIM:612692
Chromosome 20Q11-Q12 Deletion Syndrome
Feeding difficulties in infancy, Deeply set eye, Hypertelorism OMIM:614257
Dnm1L-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Oculogyric crisis, Tremor, Bilateral ptosis, Optic atrophy, Dystonia, Gastrostomy tube feeding in... ORPHA:330050
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant
Cataract, Sparse eyelashes, Sparse eyebrow, Keratitis, Folliculitis, Conjunctivitis, Blepharitis OMIM:612843
Congenital Muscular Dystrophy-Infantile Cataract-Hypogonadism Syndrome
Decreased testicular size, Cataract, Hypogonadism, Abnormality of the ovary, Ptosis ORPHA:1875
X-Linked Intellectual Disability-Cubitus Valgus-Dysmorphism Syndrome
Deeply set eye, Downslanted palpebral fissures ORPHA:85280
Abetalipoproteinemia
Chronic diarrhea, Keratoconjunctivitis sicca, Vomiting, Steatorrhea, Fat malabsorption, Corneal u... ORPHA:14
Encephalopathy Due To Sulfite Oxidase Deficiency
Feeding difficulties in infancy, Deeply set eye, Nausea and vomiting, Ectopia lentis ORPHA:833
Li-Campeau Syndrome
Telecanthus, Hypertelorism, Cryptorchidism, Gastrointestinal dysmotility, Hypothyroidism, Micrope... OMIM:619189
Hereditary Acrokeratotic Poikiloderma
Abnormality of the gastrointestinal tract, Eczema, Abnormal preputium morphology, Pustule, Xerost... ORPHA:2907
Moyamoya Disease 6 With Or Without Achalasia
Achalasia, Dysphagia OMIM:615750
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Corneal opacity, Optic atrophy, Posterior embryotoxon, Iris coloboma, Ptosis ORPHA:1473
Fatty Acyl-Coa Reductase 1 Deficiency
Hypertelorism, Juvenile cataract, Highly arched eyebrow, Ptosis ORPHA:438178
Malignant Atrophic Papulosis
Gastrointestinal hemorrhage, Constrictive pericarditis, Abnormal conjunctiva morphology, Gastroin... OMIM:602248
Mirage Syndrome
Hypospadias, Hypergonadotropic hypogonadism, Cryptorchidism, Esophageal stricture, Chronic diarrh... OMIM:617053
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Epicanthus, External genital hypoplasia, Blue irides, Hand tremor, Feeding difficulties, Upslante... ORPHA:3041
Tularemia
Skin rash, Pneumonia, Erythema nodosum, Conjunctivitis, Otitis media, Conjunctival hyperemia, Inf... ORPHA:3392
Myasthenic Syndrome, Congenital, 12
Fatigable weakness, Facial palsy, Ptosis OMIM:610542
Waardenburg Syndrome Type 2
Aganglionic megacolon, Telecanthus, Heterochromia iridis, Ptosis ORPHA:895
Coffin-Siris Syndrome 8
Eczema, Cryptorchidism, Feeding difficulties, Long eyelashes, Poor suck, Thick eyebrow, Ptosis OMIM:618362
Christianson Syndrome
Dystonia, Feeding difficulties in infancy, Deeply set eye, Gastroesophageal reflux, Dysphagia, Th... ORPHA:85278
Tremor-Ataxia-Central Hypomyelination Syndrome
Postural tremor, Hypogonadotropic hypogonadism, Optic atrophy, Dysphagia, Deeply set eye, Autonom... ORPHA:447896
Mitochondrial Complex I Deficiency, Nuclear Type 16
Optic atrophy, Feeding difficulties, Choreoathetosis, Adrenal insufficiency, Dystonia, Ptosis OMIM:618238
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 2
Facial palsy, Ptosis OMIM:609283
Radio-Tartaglia Syndrome
Epicanthus, Highly arched eyebrow, Long eyebrows, Tremor, Precocious puberty, Synophrys, Hypertel... OMIM:619312
Immunodeficiency, Common Variable, 1
Pneumonia, Diarrhea, Recurrent pneumonia, Bronchiectasis, Conjunctivitis, Recurrent sinusitis, Re... OMIM:607594
Hyperphosphatasia With Impaired Intellectual Development Syndrome 6
Necrotizing enterocolitis, Abdominal pain, Feeding difficulties, Developmental cataract, Deeply s... OMIM:616809
Crouzon Syndrome
Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, Shallow orbits, Dysgerminoma OMIM:123500
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Decreased response to growth hormone stimulation test, Hypertelorism, Celiac disease, Adrenocorti... ORPHA:293987
Juvenile Temporal Arteritis
Conjunctivitis, Allergic rhinitis ORPHA:26137
Pancreatic Triacylglycerol Lipase Deficiency
Abdominal pain, Abdominal distention, Diarrhea, Keratoconjunctivitis sicca, Colitis, Steatorrhea,... ORPHA:309031
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Laterally extended eyebrow, Synophrys, Buphthalmos, Keratoconjunctivitis sicca, Long eyelashes, A... OMIM:618479
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Telecanthus, Feeding difficulties in infancy, Astigmatism, Hooded upper eyelid, Alacrima, Ptosis OMIM:618548
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type
Deeply set eye, Limb tremor OMIM:300699
Trisomy 13
Cataract, Abnormal eyelash morphology, Abnormal retinal vascular morphology, Cryptorchidism, Opti... ORPHA:3378
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive
Bitot spots of the conjunctiva OMIM:277350
Blepharophimosis-Ptosis-Esotropia-Syndactyly-Short Stature Syndrome
Highly arched eyebrow, Hypertelorism, Synophrys, Abnormal cranial nerve morphology, Blepharophimo... ORPHA:2057
Goldberg-Shprintzen Megacolon Syndrome
Bifid scrotum, Aganglionic megacolon, Hypospadias, Hypertelorism, Sparse eyebrow, Iris coloboma, ... ORPHA:66629
Hemophagocytic Lymphohistiocytosis, Familial, 4
Skin rash, Conjunctivitis OMIM:603552
Autoimmune Disease, Multisystem, Infantile-Onset, 1
Eczema, Celiac disease, Interstitial pneumonitis, Abnormal intestine morphology, Achalasia, Hypot... OMIM:615952
Myasthenic Syndrome, Congenital, 1B, Fast-Channel
Facial palsy, Dysphagia, Poor suck, Decreased miniature endplate potentials, Ptosis OMIM:608930
Muckle-Wells Syndrome
Conjunctival hyperemia, Conjunctivitis, Recurrent aphthous stomatitis, Maculopapular exanthema OMIM:191900
Developmental And Epileptic Encephalopathy 84
Epicanthus, Gastrostomy tube feeding in infancy, Synophrys, Opisthotonus, Deeply set eye, Dystoni... OMIM:618792
Nizon-Isidor Syndrome
Unilateral ptosis, Hypospadias, Hypertelorism, Sparse eyebrow, Feeding difficulties in infancy, U... OMIM:618872
Hiatt-Neu-Cooper Neurodevelopmental Syndrome
Epicanthus, Horizontal eyebrow, Ptosis OMIM:619311
Inverted Duplicated Chromosome 15 Syndrome
Epicanthus, Precocious puberty, Cryptorchidism, Synophrys, Feeding difficulties, Deeply set eye, ... ORPHA:3306
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Nausea and vomiting, Epicanthus, Malabsorption, Decreased nerve conduction velocity,... ORPHA:285
Mental Retardation, Microcephaly, Growth Retardation, Joint Contractures, And Facial Dysmorphism
Atopic dermatitis, Thick eyebrow, Ptosis OMIM:606242
Nabais Sa-De Vries Syndrome, Type 2
Hypertelorism, Sparse eyebrow, Feeding difficulties in infancy, Chronic constipation, Deeply set ... OMIM:618829
Myoclonus, Intractable, Neonatal
Optic disc pallor, Feeding difficulties, Athetosis, Dysphagia, Impaired oral bolus formation, Poo... OMIM:617235
Oculopharyngeal Myopathy With Leukoencephalopathy 1
Tremor, Gastrointestinal dysmotility, Dysphagia, Ptosis OMIM:618637
1p36 microdeletion syndrome
Deeply set eye DECIPHER:18
Intellectual Developmental Disorder, X-Linked 101
Unilateral ptosis, Optic atrophy OMIM:300928
Galloway-Mowat Syndrome 5
Deeply set eye, Epicanthus, Hypertelorism OMIM:617731
Silent Sinus Syndrome
Deeply set eye ORPHA:71276
20Q11.2 Microdeletion Syndrome
Deeply set eye, Hypertelorism ORPHA:444051
Dermatopathia Pigmentosa Reticularis
Abnormal conjunctiva morphology, Hypohidrosis OMIM:125595
Branchiootorenal Syndrome 1
Lacrimal duct stenosis, Facial palsy, Intestinal malrotation, Lacrimation abnormality, Lacrimal d... OMIM:113650
Cystic Fibrosis-Gastritis-Megaloblastic Anemia Syndrome
Telecanthus, Gastritis, Hypospadias, Hypertelorism, Diarrhea, Glandular hypospadias, Deeply set e... ORPHA:2575
Chromosome 2Q37 Deletion Syndrome
Eczema, Highly arched eyebrow, Feeding difficulties, Upslanted palpebral fissure, Narrow palpebra... OMIM:600430
6P22 Microdeletion Syndrome
Deeply set eye, Epicanthus, Hypotelorism ORPHA:251046
Fabry Disease
Conjunctival telangiectasia, Nausea and vomiting, Cataract, Corneal opacity, Corneal dystrophy, A... ORPHA:324
Stag1-Related Intellectual Disability-Facial Dysmorphism-Gastroesophageal Reflux Syndrome
Cryptorchidism, Synophrys, Feeding difficulties, Deeply set eye, Long eyelashes, Gastroesophageal... ORPHA:502434
Deeah Syndrome
Epicanthus, Anterior pituitary hypoplasia, Decreased response to growth hormone stimulation test,... OMIM:619004
Sarcoidosis
Abnormality of the gastrointestinal tract, Cataract, Maculopapular exanthema, Facial palsy, Hyper... ORPHA:797
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion
Celiac disease, Synophrys, Feeding difficulties, Deeply set eye, Astigmatism, Constipation, Downs... ORPHA:284169
Familial Cold Autoinflammatory Syndrome 1
Skin rash, Arthritis, Conjunctivitis, Uveitis OMIM:120100
Arthrogryposis, Distal, Type 7
Feeding difficulties, Dysphagia, Ptosis OMIM:158300
Short Stature-Delayed Bone Age Due To Thyroid Hormone Metabolism Deficiency
Increased circulating T4 concentration, Decreased circulating free T3, Ptosis ORPHA:171706
Neurodevelopmental Disorder With Or Without Hyperkinetic Movements And Seizures, Autosomal Dominant
Oculogyric crisis, Feeding difficulties, Deeply set eye, Constipation, Dystonia OMIM:614254
Williams-Beuren Region Duplication Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Feeding difficulties, Chro... OMIM:609757
Segawa Syndrome, Autosomal Recessive
Tremor, Limb dystonia, Ptosis OMIM:605407
Visceral Neuropathy, Familial, 2, Autosomal Recessive
Chronic constipation, Short-segment aganglionic megacolon, Ptosis OMIM:619465
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions, Alacrima OMIM:601549
2q37 monosomy
Deeply set eye DECIPHER:44
Charcot-Marie-Tooth Disease, Axonal, Type 2E
Decreased motor nerve conduction velocity, Decreased distal sensory nerve action potential, Facia... OMIM:607684
Intellectual Developmental Disorder, Autosomal Dominant 2
Deeply set eye OMIM:614113
Spinal Muscular Atrophy, X-Linked 2
Hypospadias, Facial palsy, Cryptorchidism, Decreased compound muscle action potential amplitude, ... OMIM:301830
Chronic Graft Versus Host Disease
Fasciitis, Anorexia, Phimosis, Abdominal pain, Urinary bladder inflammation, Esophageal stricture... ORPHA:99921
Basilicata-Akhtar Syndrome
Epicanthus, Telecanthus, Precocious puberty, Feeding difficulties, Chronic constipation, Deeply s... OMIM:301032
Myasthenic Syndrome, Congenital, 6, Presynaptic
Generalized hypotonia due to defect at the neuromuscular junction, Fatigable weakness, Dysphagia,... OMIM:254210
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Corneal opacity, Lacrimation abnormality, Uveal ectropion, Abnormal ... ORPHA:98973
Spinocerebellar Ataxia, Autosomal Recessive 32
Torticollis, Postural tremor, Dysphagia, Abnormal nerve conduction velocity, Ptosis OMIM:619862
Myasthenic Syndrome, Congenital, 4A, Slow-Channel
Feeding difficulties in infancy, Generalized hypotonia due to defect at the neuromuscular junctio... OMIM:605809
Lacrimoauriculodentodigital Syndrome 1
Absent lacrimal punctum, Telecanthus, Hypoplastic lacrimal duct, Absence of Stensen duct, Hyperte... OMIM:149730
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Epicanthus, Highly arched eyebrow, Tremor, Deeply set eye, Downslanted palpebral fissures OMIM:618342
Bachmann-Bupp Syndrome
Absent eyebrow, Sparse eyelashes, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism,... OMIM:619075
Central Hypoventilation Syndrome, Congenital, 2, And Autonomic Dysfunction
Small intestinal dysmotility, Feeding difficulties, Chronic constipation, Astigmatism, Gastroesop... OMIM:619482
Combined Oxidative Phosphorylation Deficiency 31
Deeply set eye, Cataract, Feeding difficulties OMIM:617228
Multisystemic Smooth Muscle Dysfunction Syndrome
Cryptorchidism, Hypoperistalsis, Intestinal malrotation, Mydriasis OMIM:613834
Intellectual Developmental Disorder, Autosomal Recessive 39
Deeply set eye, Synophrys OMIM:615541
Satb2-Associated Syndrome Due To A Pathogenic Variant
Feeding difficulties in infancy, Celiac disease, Deeply set eye, Gastroesophageal reflux, Dysphag... ORPHA:576283
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Hypospadias, Supernumerary nipple, Absent eyelashes, Nasogastric tube feeding i... OMIM:106260
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language
Upslanted palpebral fissure, Deeply set eye, Hypertelorism, Feeding difficulties OMIM:613443
Kury-Isidor Syndrome
Feeding difficulties, Deeply set eye, Astigmatism, Recurrent otitis media, Downslanted palpebral ... OMIM:619762
Acrocraniofacial Dysostosis
Telecanthus, Lacrimation abnormality, Hypertelorism, Proptosis, Downslanted palpebral fissures, P... ORPHA:949
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked
Frontalis muscle weakness, Poor suck, Facial palsy, Ptosis OMIM:300580
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies
Telecanthus, Hyperopic astigmatism, Atopic dermatitis, Blepharophimosis, Ptosis OMIM:606772
Developmental And Epileptic Encephalopathy 64
Paroxysmal dystonia, Epicanthus, Highly arched eyebrow, Sparse eyebrow, Deeply set eye, Long eyel... OMIM:618004
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia
Highly arched eyebrow, Cryptorchidism, Chronic diarrhea, Alacrima, Chronic constipation, Long eye... OMIM:619005
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Eczema, Hypertelorism, Dacryocystitis, Cryptorchidism, Pseudohypoparathyroidism, Feeding difficul... ORPHA:464288
Richieri-Costa/Guion-Almeida Syndrome
Hypotelorism, Deeply set eye, Eyelid coloboma, Downslanted palpebral fissures, Iris coloboma, Ptosis OMIM:268850
Intellectual Developmental Disorder, Autosomal Dominant 52
Hypertelorism, Bilateral cryptorchidism, Cryptorchidism, Synophrys, Feeding difficulties, Chronic... OMIM:617796
Moyamoya Disease 4 With Short Stature, Hypergonadotropic Hypogonadism, And Facial Dysmorphism
Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone stimulation test, ... OMIM:300845
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Feeding difficulties, Fatigable weakness, Dysphagia, Ptosis OMIM:608931
Cataract-Aberrant Oral Frenula-Growth Delay Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1373
Periventricular Nodular Heterotopia 7
Optic disc pallor, Hypertelorism, Cryptorchidism, Feeding difficulties, Deeply set eye, Proptosis OMIM:617201
Spinocerebellar Ataxia, Autosomal Recessive 31
Tremor, Optic atrophy, Dysphagia, Feeding difficulties, Choreoathetosis, Dystonia, Ptosis OMIM:619422
Frontofacionasal Dysplasia
Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ... ORPHA:1791
X-Linked Agammaglobulinemia
Recurrent cutaneous abscess formation, Sinusitis, Osteomyelitis, Skin rash, Malabsorption, Recurr... ORPHA:47
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies
Epicanthus, Hypertelorism, Feeding difficulties, Chronic constipation, Deeply set eye, Downslante... OMIM:619056
Fazio-Londe Disease
Facial diplegia, Dysphagia, Ptosis OMIM:211500
Microcephaly 16, Primary, Autosomal Recessive
Cryptorchidism, Telecanthus, Ptosis OMIM:616681
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Lacrimation abnormality, Hypogonadotropic hypogonadism, Hypertelorism ORPHA:1135
Myasthenic Syndrome, Congenital, 11, Associated With Acetylcholine Receptor Deficiency
Feeding difficulties, Poor suck, Tube feeding, Ptosis OMIM:616326
Hepatoerythropoietic Porphyria
Recurrent bacterial skin infections, Loss of eyelashes, Keratoconjunctivitis, Scleritis, Seborrho... ORPHA:95159
Intellectual Developmental Disorder, Autosomal Dominant 26
Epicanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Feeding difficulties, Upslanted ... OMIM:615834
Neuropathy, Hereditary Motor And Sensory, Russe Type
Decreased motor nerve conduction velocity, Ptosis OMIM:605285
Cerebrooculofacioskeletal Syndrome 1
Cataract, Cryptorchidism, Recurrent pneumonia, Deeply set eye, Blepharophimosis OMIM:214150
Proximal 16P11.2 Microduplication Syndrome
Sparse eyelashes, Hypertelorism, Sparse eyebrow, Tremor, Deeply set eye, Micropenis ORPHA:370079
Congenital Disorder Of Glycosylation, Type Iy
Deeply set eye, Hypospadias, Feeding difficulties OMIM:300934
Rotor Syndrome
Conjunctival icterus ORPHA:3111
Short Syndrome
Telecanthus, Corneal opacity, Poor appetite, Hypertelorism, Abnormal pupil morphology, Abnormal a... ORPHA:3163
Emanuel Syndrome
Torticollis, Intestinal malrotation, Cryptorchidism, Feeding difficulties, Upslanted palpebral fi... OMIM:609029
X-Linked Intellectual Disability-Cerebellar Hypoplasia Syndrome
Deeply set eye, Intention tremor ORPHA:137831
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay
Deeply set eye, Gastroesophageal reflux OMIM:618158
Intellectual Developmental Disorder, Autosomal Dominant 47
Supernumerary nipple, Cryptorchidism, Feeding difficulties, Deeply set eye, Gastroesophageal refl... OMIM:617635
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Skin rash, Abnormal auditory evoked potentials, Astigmatism, Long eyelashes, D... OMIM:617523
Neurodevelopmental Disorder With Absent Language And Variable Seizures
Feeding difficulties, Upslanted palpebral fissure, Chronic constipation, Deeply set eye, Proptosis OMIM:618707
Lessel-Kreienkamp Syndrome
Epicanthus, Feeding difficulties, Upslanted palpebral fissure, Deeply set eye, Gastroesophageal r... OMIM:619149
Smith-Magenis Syndrome
Hypertelorism, Precocious puberty, Feeding difficulties in infancy, Synophrys, Microcornea, Upsla... ORPHA:819
X-Linked Intellectual Disability-Dysmorphism-Cerebral Atrophy Syndrome
Cryptorchidism, Epicanthus, Hypertelorism, Ptosis ORPHA:2958
Autoimmune Hypoparathyroidism
Abdominal symptom, Cataract, Autoimmune hypoparathyroidism, Chronic mucocutaneous candidiasis, Co... ORPHA:36913
Spinocerebellar Ataxia, Autosomal Recessive 8
Optic atrophy, Abnormal autonomic nervous system physiology, Ptosis OMIM:610743
Houge-Janssens Syndrome 1
Hypertelorism, Pyloric stenosis, Chronic diarrhea, Deeply set eye, Downslanted palpebral fissures... OMIM:616355
Autosomal Dominant Spastic Ataxia Type 1
Abnormal eyelid morphology, Tremor, Dysphagia, Dystonia, Ptosis ORPHA:251282
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies
Corneal dystrophy, Upslanted palpebral fissure, Deeply set eye, Hypothyroidism, Short palpebral f... OMIM:617763
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Feeding difficulties, Hyperhidrosis, Gastroesophageal reflux, Poor suck, Alacrima OMIM:614653
Johanson-Blizzard Syndrome
Absent lacrimal punctum, Hypoplasia of penis, Hypospadias, Lacrimation abnormality, Malabsorption... ORPHA:2315
Proteus Syndrome
Limbal dermoid, Downslanted palpebral fissures, Ptosis OMIM:176920
Bardet-Biedl Syndrome 7
Deeply set eye, Hypogonadism, Hypertelorism OMIM:615984
Joubert Syndrome 37
Hypertelorism, Cryptorchidism, Deeply set eye, Micropenis, Decreased testicular size, Ptosis OMIM:619185
Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type
Hypertelorism, Almond-shaped palpebral fissure, Synophrys, Upslanted palpebral fissure, Deeply se... OMIM:300860
Myasthenic Syndrome, Congenital, 2A, Slow-Channel
Fatigable weakness, Poor suck, Facial palsy, Ptosis OMIM:616313
Contractures-Ectodermal Dysplasia-Cleft Lip/Palate Syndrome
Lacrimation abnormality, Hypohidrosis ORPHA:1484
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome
Telecanthus, Supernumerary nipple, Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Pete... OMIM:618929
Poikiloderma With Neutropenia
Skin rash, Hypertelorism, Sparse eyebrow, Recurrent pneumonia, Nasolacrimal duct obstruction, Con... OMIM:604173
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits
Hypertelorism, Upslanted palpebral fissure, Narrow palpebral fissure, Deeply set eye, Dystonia OMIM:618087
Kilquist Syndrome
Intestinal malrotation, Midgut malrotation, Xerostomia, Feeding difficulties, Chronic constipatio... OMIM:619080
Acrodermatitis Enteropathica
Abnormal eyebrow morphology, Anorexia, Abnormal eyelid morphology, Pustule, Poor appetite, Cornea... ORPHA:37
Focal Segmental Glomerulosclerosis And Neurodevelopmental Syndrome
Hypospadias, Glomerulonephritis, Synophrys, Chronic constipation, Deeply set eye, Head tremor OMIM:619428
Neurodevelopmental Disorder With Short Stature, Prominent Forehead, And Feeding Difficulties
Epicanthus, Sparse eyelashes, Sparse eyebrow, Feeding difficulties, Upslanted palpebral fissure, ... OMIM:620070
Prieto Syndrome
Cryptorchidism, Epicanthus, Hypertelorism, Ptosis OMIM:309610
Paternal 20Q13.2Q13.3 Microdeletion Syndrome
Deeply set eye, Hypertelorism, Aplasia/Hypoplasia of the eyebrow, Feeding difficulties ORPHA:261304
19P13.13 Microdeletion Syndrome
Epicanthus, Optic nerve hypoplasia, Abdominal pain, Hypertelorism, Diarrhea, Optic atrophy, Funct... ORPHA:357001
Clouston Syndrome
Cataract, Sparse eyelashes, Sparse eyebrow, Conjunctivitis, Blepharitis OMIM:129500
Ritscher-Schinzel Syndrome 4
Hypertelorism, Cryptorchidism, Hypotelorism, Athetosis, Deeply set eye, Proptosis, Dysphagia, Mic... OMIM:619435
Forsythe-Wakeling Syndrome
Deeply set eye OMIM:613606
Mitochondrial Neurogastrointestinal Encephalomyopathy
Decreased motor nerve conduction velocity, Abnormality of the gastrointestinal tract, Hypogonadot... ORPHA:298
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Hypertelorism, Optic atrophy, Deeply set eye, Astigmatism, Dystonia OMIM:616875
Spinocerebellar Ataxia Type 28
Dystonia, Kinetic tremor, Head tremor, Limb dystonia, Ptosis ORPHA:101109
Immunodeficiency, Common Variable, 8, With Autoimmunity
Atrophic gastritis, Villous atrophy, Pneumonia, Erythema nodosum, Recurrent pneumonia, Chronic di... OMIM:614700
Malan Overgrowth Syndrome
Feeding difficulties in infancy, Optic disc pallor, Downslanted palpebral fissures, Deeply set eye ORPHA:420179
Rere-Related Neurodevelopmental Syndrome
Epicanthus, Hypospadias, Cryptorchidism, Optic atrophy, Dysphagia, Feeding difficulties, Astigmat... ORPHA:494344
Warburg Micro Syndrome 2
Small scrotum, Cataract, Cryptorchidism, Optic atrophy, Developmental cataract, Microcornea, Hypo... OMIM:614225
1Q41Q42 Microdeletion Syndrome
Hypergonadotropic hypogonadism, Cryptorchidism, Abnormality iris morphology, Hypotelorism, Upslan... ORPHA:250999
Autism Spectrum Disorder Due To Auts2 Deficiency
Epicanthus, Eczema, Highly arched eyebrow, Hypertelorism, Feeding difficulties in infancy, Bilate... ORPHA:352490
Wolfram Syndrome 1
Neurogenic bladder, Cataract, Tremor, Hypothyroidism, Optic atrophy, Dysphagia, Testicular atroph... OMIM:222300
Schinzel-Giedion Syndrome
Streak ovary, Aganglionic megacolon, Hypospadias, Hypertelorism, Recurrent pneumonia, Dysphagia, ... ORPHA:798
Shigellosis
Pneumonia, Anorexia, Abdominal pain, Intestinal perforation, Myocarditis, Peritonitis, Hepatic fa... ORPHA:810
Sclerosteosis
Optic atrophy, Facial palsy, Ptosis ORPHA:3152
Char Syndrome
Hypertelorism, Thick eyebrow, Highly arched eyebrow, Ptosis OMIM:169100
Hypocomplementemic Urticarial Vasculitis
Episcleritis, Nausea and vomiting, Skin rash, Abdominal pain, Diarrhea, Uveitis, Arthritis, Conju... ORPHA:36412
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia
Deeply set eye, Congenital pyloric atresia OMIM:612138
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities
Downslanted palpebral fissures, Deeply set eye, Long eyelashes, Hypertelorism OMIM:618089
Chopra-Amiel-Gordon Syndrome
Almond-shaped palpebral fissure, Deeply set eye, Upslanted palpebral fissure, Feeding difficulties OMIM:619504
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome
Epicanthus, Hypoplasia of penis, Supernumerary nipple, Abnormal eyelid morphology, Feeding diffic... ORPHA:1812
Lymphedema-Distichiasis Syndrome
Cataract, Ectropion, Recurrent skin infections, Corneal erosion, Tubulointerstitial nephritis, Co... ORPHA:33001
De Sanctis-Cacchione Syndrome
Entropion, Keratitis, Bilateral cryptorchidism, Optic atrophy, Gonadal hypoplasia, Choreoathetosi... OMIM:278800
Wieacker-Wolff Syndrome, Female-Restricted
Facial palsy, Feeding difficulties, Deeply set eye, Dysphagia, Ptosis OMIM:301041
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome
Nausea and vomiting, Abnormality of the gastrointestinal tract, Intestinal malrotation, Hypoperis... ORPHA:2241
Deafness, Congenital, With Vitiligo And Achalasia
Achalasia OMIM:221350
Emanuel Syndrome
Hooded eyelid, Cryptorchidism, Feeding difficulties, Upslanted palpebral fissure, Deeply set eye,... ORPHA:96170
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Epicanthus, Cryptorchidism, Deeply set eye, Gastroesophageal reflux, Constipation, Dysphagia, Rec... OMIM:618494
Myasthenic Syndrome, Congenital, 5
Feeding difficulties in infancy, Prolonged miniature endplate currents, Fatigable weakness, Dysph... OMIM:603034
Eec Syndrome
Entropion, Hypospadias, Decreased response to growth hormone stimulation test, Lacrimation abnorm... ORPHA:1896
2Q23.1 Microduplication Syndrome
Highly arched eyebrow, Bilateral ptosis, Hypotelorism, Astigmatism, Long eyelashes, Vomiting, Gas... ORPHA:313947
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Epicanthus, Supernumerary nipple, Hypertelorism, Sparse eyebrow, Synophrys, Upslanted palpebral f... OMIM:620098
Cockayne Syndrome Type 2
Feeding difficulties in infancy, Cryptorchidism, Uveitis, Developmental cataract, Conjunctivitis,... ORPHA:90322
Whistling Face Syndrome, Recessive Form
Telecanthus, Epicanthus, Hypertelorism, Blepharophimosis, Short palpebral fissure, Ptosis OMIM:277720
Joubert Syndrome 14
Epicanthus, Highly arched eyebrow, Hypertelorism, Optic atrophy, Deeply set eye, Downslanted palp... OMIM:614424
Frank-Ter Haar Syndrome
Deeply set eye, Downslanted palpebral fissures, Acne, Hypertelorism ORPHA:137834
Combined Oxidative Phosphorylation Deficiency 32
Tremor, Optic atrophy, Dysphagia, Feeding difficulties, Choreoathetosis, Gastroesophageal reflux,... OMIM:617664
Biotinidase Deficiency
Skin rash, Recurrent skin infections, Seborrheic dermatitis, Feeding difficulties in infancy, Dia... OMIM:253260
Lichen Planus Pemphigoides
Conjunctivitis, Blepharitis ORPHA:254478
Mannosidosis, Beta A, Lysosomal
Tortuosity of conjunctival vessels OMIM:248510
Chromosome 22Q11.2 Deletion Syndrome, Distal
Deeply set eye, Highly arched eyebrow OMIM:611867
Intellectual Developmental Disorder, X-Linked 30
Upslanted palpebral fissure, Deeply set eye OMIM:300558
Mosaic Trisomy 14
Hypoplasia of penis, Hypospadias, Hypertelorism, Cryptorchidism, Blepharophimosis, Ptosis ORPHA:1703
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies
Hypospadias, Intestinal malrotation, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synoph... OMIM:618316
Trisomy 5P
Hypertelorism, Hypoplasia of penis, Ptosis ORPHA:1742
Combined Immunodeficiency With Facio-Oculo-Skeletal Anomalies
Psoriasiform dermatitis, Lacrimal duct stenosis, Optic nerve hypoplasia, Palpebral edema, Hyperte... ORPHA:221139
Chondroectodermal Dysplasia With Night Blindness
Epiphora, Otitis media, Hyperhidrosis ORPHA:319195
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum
Bowel incontinence, Hypertelorism, Sparse eyebrow, Synophrys, Optic atrophy, Feeding difficulties... OMIM:617193
Ring Chromosome 1 Syndrome
Feeding difficulties in infancy, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:1437
Spinocerebellar Ataxia With Epilepsy
Acute hepatic failure, Tremor, Optic atrophy, Dystonia, Ptosis ORPHA:254881
Leber Congenital Amaurosis 8
Keratoconus, Deeply set eye, Cataract OMIM:613835
Syngap1-Related Developmental And Epileptic Encephalopathy
Tremor, Feeding difficulties in infancy, Hypospadias, Deeply set eye ORPHA:544254
Spinocerebellar Ataxia 50
Ptosis, Postural tremor, Head tremor, Froment sign, Action tremor OMIM:620158
Joubert Syndrome 36
Highly arched eyebrow, Ptosis OMIM:618763
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Spontaneous esophageal perforation, Cataract, Esophageal stricture, Malnutrition, Corneal scarrin... OMIM:226600
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia
Sinusitis, Pneumonia, Decreased response to growth hormone stimulation test, Enteroviral hepatiti... OMIM:307200
Neurodevelopmental Disorder With Or Without Variable Brain Abnormalities
Hypertelorism, Synophrys, Myopic astigmatism, Encopresis, Upslanted palpebral fissure, Narrow pal... OMIM:618443
Ascher Syndrome
Abnormal eyelid morphology, Goiter, Hypertelorism, Upper eyelid edema, Blepharophimosis, Hypothyr... ORPHA:1253
Autosomal Recessive Progressive External Ophthalmoplegia
Ptosis, Facial palsy, Optic atrophy, Optic neuritis, Dysphagia, Action tremor ORPHA:254886
Myasthenic Syndrome, Congenital, 1A, Slow-Channel
Prolonged miniature endplate currents, Feeding difficulties, Fatigable weakness, Dysphagia, Ptosis OMIM:601462
Mitochondrial Complex Iv Deficiency, Nuclear Type 20
Deeply set eye, Synophrys, Long eyelashes OMIM:619064
Myasthenic Syndrome, Congenital, 4B, Fast-Channel
Fatigable weakness of skeletal muscles, Feeding difficulties, Ptosis OMIM:616324
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent pupillary membrane, Ptosis ORPHA:1067
Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome
Epicanthus, Synophrys, Abnormal lacrimal duct morphology, Blepharophimosis, Ptosis ORPHA:126
Intellectual Developmental Disorder, Autosomal Dominant 23
Hypospadias, Synophrys, Feeding difficulties, Upslanted palpebral fissure, Astigmatism, Downslant... OMIM:615761
Pontocerebellar Hypoplasia, Type 16
Cataract, Optic atrophy, Dysphagia, Ptosis OMIM:619527
Neuropathy, Hereditary Sensory And Autonomic, Type I, With Cough And Gastroesophageal Reflux
Gastroesophageal reflux, Alacrima OMIM:608088
X-Linked Intellectual Disability, Schimke Type
Choreoathetosis, Deeply set eye, Poor suck, Gastrostomy tube feeding in infancy ORPHA:85285
Myasthenia, Congenital, Refractory To Acetylcholinesterase Inhibitors
Fatigable weakness, Congenital ptosis OMIM:254190
Bainbridge-Ropers Syndrome
Epicanthus, Intestinal malrotation, Highly arched eyebrow, Supernumerary nipple, Precocious puber... OMIM:615485
Iatrogenic Botulism
Orthostatic hypotension, Mydriasis, Xerostomia, Constipation, Dysphagia, Ptosis ORPHA:254509
Hyperostosis Cranialis Interna
Proptosis, Optic atrophy, Facial palsy, Epiphora OMIM:144755
Congenital Erythropoietic Porphyria
Recurrent bacterial skin infections, Loss of eyelashes, Keratoconjunctivitis, Scleritis, Seborrho... ORPHA:79277
Intellectual Developmental Disorder With Autism And Macrocephaly
Hypertelorism, Constipation, Downslanted palpebral fissures, Ptosis OMIM:615032
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Telecanthus, Hyperopic astigmatism, Atopic dermatitis, Blepharophimosis, Ptosis ORPHA:397973
Arthrogryposis, Distal, Type 2A
Epicanthus, Telecanthus, Abnormal auditory evoked potentials, Feeding difficulties in infancy, Cr... OMIM:193700
Chromosome 3Q13.31 Deletion Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Shawl scrotum, Micropenis, Downslanted palpebral fissu... OMIM:615433
Pitt-Hopkins Syndrome
Aganglionic megacolon, Supernumerary nipple, Hiatus hernia, Cryptorchidism, Feeding difficulties,... ORPHA:2896
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Ptosis OMIM:300915
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 3
Dysphagia, Ptosis OMIM:617069
Neurofibromatosis-Noonan Syndrome
Hypertelorism, Cryptorchidism, Dysphagia, Downslanted palpebral fissures, Ptosis ORPHA:638
Encephalopathy Due To Defective Mitochondrial And Peroxisomal Fission 1
Optic disc pallor, Optic atrophy, Feeding difficulties, Athetosis, Deeply set eye OMIM:614388
Intellectual Developmental Disorder With Autism And Dysmorphic Facies
Bilateral ptosis, Astigmatism, Hypertelorism OMIM:620021
Cerebrooculofacioskeletal Syndrome 2
Cataract, Small scrotum, Developmental cataract, Deeply set eye, Micropenis OMIM:610756
Pontocerebellar Hypoplasia, Type 6
Deeply set eye, Gastroesophageal reflux, Poor suck, Feeding difficulties OMIM:611523
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Hypertelorism, Cryptorchidism, Developmental glaucoma, Pyloric stenosis, Narrow palpebr... OMIM:614438
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Epicanthus, Abnormal retinal vascular morphology, Synophrys, Downslanted palpebral fissures, Hete... ORPHA:1390
Myasthenic Syndrome, Congenital, 16
Fatigable weakness, Bilateral ptosis, Ptosis OMIM:614198
Wagr Syndrome
Cataract, Cryptorchidism, Aplasia/Hypoplasia of the iris, Ambiguous genitalia, Displacement of th... ORPHA:893
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome
Facial palsy, Ptosis ORPHA:2743
Zygomycosis
Fasciitis, Sinusitis, Acute infectious pneumonia, Unusual gastrointestinal infection, Colitis, Vo... ORPHA:73263
Corneal Dystrophy, Posterior Polymorphous, 1
Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ... OMIM:122000
Paroxysmal Extreme Pain Disorder
Lacrimation abnormality OMIM:167400
Trismus-Pseudocamptodactyly Syndrome
Ptosis ORPHA:3377
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Developmental cataract, Ptosis ORPHA:330054
Childhood-Onset Nemaline Myopathy
Hypertelorism, Fatigable weakness of bulbar muscles, Neuromuscular dysphagia, Feeding difficultie... ORPHA:171439
Chromosome 17Q12 Duplication Syndrome
Esophageal atresia, Downslanted palpebral fissures, Deeply set eye, Peters anomaly OMIM:614526
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypertelorism, Optic atrophy, Proptosis, Inflammatory abnormality of the eye, Ptosis ORPHA:93262
Mitochondrial Complex I Deficiency, Nuclear Type 5
Optic atrophy, Dysphagia, Vomiting, Dystonia, Episodic vomiting, Ptosis OMIM:618226
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Decreased motor nerve conduction velocity, Hypertelorism, Tremor, Decreased nerve conduction velo... OMIM:218000
Alazami Syndrome
Sparse eyebrow, Abnormality of the orbital region, Narrow palpebral fissure, Deeply set eye, Shor... ORPHA:319671
Loeys-Dietz Syndrome 4
Torticollis, Flat cornea, Eosinophilic infiltration of the esophagus, Hypertelorism, Deeply set e... OMIM:614816
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1
Epicanthus, Hypertelorism, Sparse eyebrow, Upslanted palpebral fissure, Chronic constipation, Dee... OMIM:619720
Blepharophimosis-Impaired Intellectual Development Syndrome
Epicanthus, Sparse eyelashes, Hypospadias, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, ... OMIM:619293
Hypertrichosis Cubiti
Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash morphology,... ORPHA:2220
Frontoocular Syndrome
Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Blepharophimosis, Short palpebr... OMIM:605321
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3
Deeply set eye, Epicanthus, Highly arched eyebrow, Gastrostomy tube feeding in infancy OMIM:616900
Cardiofaciocutaneous Syndrome 4
Absent eyebrow, Epicanthus, Telecanthus, Sparse eyelashes, Cataract, Optic nerve hypoplasia, Decr... OMIM:615280
Paganini-Miozzo Syndrome
Deeply set eye, Downslanted palpebral fissures, Feeding difficulties OMIM:301025
Terminal Osseous Dysplasia
Epicanthus, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Iris coloboma, Ptosis OMIM:300244
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome
Fasciitis, Pericarditis, Myositis, Skin rash, Intestinal obstruction, Abdominal pain, Orchitis, P... ORPHA:32960
Neonatal Adrenoleukodystrophy
Primary adrenal insufficiency, Cataract, Optic atrophy, Ptosis ORPHA:44
Charge Syndrome
Bifid scrotum, Epicanthus, Hypogonadotropic hypogonadism, Facial palsy, Highly arched eyebrow, La... ORPHA:138
Cluster Headache, Familial
Hyperhidrosis, Ptosis OMIM:119915
Autism, Susceptibility To, X-Linked 6
Ptosis OMIM:300872
Pterygium Of Conjunctiva And Cornea
Abnormal conjunctiva morphology, Pterygium OMIM:178000
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome
Absent eyebrow, Sparse eyelashes, Hypertelorism, Absent eyelashes, Bilateral ptosis, Sparse eyebr... ORPHA:544488
Epiphyseal Dysplasia-Hearing Loss-Dysmorphism Syndrome
Hypertelorism, Epicanthus, Ptosis ORPHA:1825
Holoprosencephaly
Hypoplasia of penis, Feeding difficulties in infancy, Synophrys, Hypotelorism, Deeply set eye, Ga... ORPHA:2162
Xeroderma Pigmentosum, Complementation Group F
Tremor, Deeply set eye, Astigmatism OMIM:278760
Spinocerebellar Ataxia, Autosomal Recessive 10
Tortuosity of conjunctival vessels, Intention tremor OMIM:613728
Stromme Syndrome
Cataract, Jejunal atresia, Optic nerve hypoplasia, Sclerocornea, Intestinal malrotation, Hypertel... OMIM:243605
16P11.2P12.2 Microdeletion Syndrome
Epicanthus, Feeding difficulties, Hypotelorism, Deeply set eye, Gastroesophageal reflux, Blepharo... ORPHA:261211
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Episcleritis, Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Aganglion... ORPHA:2273
Chromosome 14Q11-Q22 Deletion Syndrome
Epicanthus, Unilateral cryptorchidism, Anterior pituitary hypoplasia, Hypertelorism, Bilateral cr... OMIM:613457
Xeroderma Pigmentosum, Complementation Group A
Entropion, Keratitis, Choreoathetosis, Conjunctivitis, Ectropion OMIM:278700
Xeroderma Pigmentosum, Variant Type
Keratitis, Entropion, Conjunctivitis, Ectropion OMIM:278750
Bone Marrow Failure Syndrome 3
Epicanthus, Eczema, Hypertelorism, Pancreatic steatosis, Cryptorchidism, Feeding difficulties, De... OMIM:617052
Macrostomia-Preauricular Tags-External Ophthalmoplegia Syndrome
Hypertelorism, Ptosis ORPHA:83619
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 4
Dysphagia, Ptosis OMIM:617070
Autosomal Recessive Dopa-Responsive Dystonia
Generalized dystonia, Postural tremor, Oculogyric crisis, Focal dystonia, Feeding difficulties, C... ORPHA:101150
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Telecanthus, Sparse eyelashes, Cataract, Microcornea, Deeply set eye, Persistent pupi... OMIM:257850
Difference Of Sex Development-Intellectual Disability Syndrome
Hypoplasia of penis, Small scrotum, Synophrys, Deeply set eye, Hypogonadism ORPHA:2983
Trisomy 9P
Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism ORPHA:236
Schuurs-Hoeijmakers Syndrome
Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Feeding difficulties, Long eyela... OMIM:615009
Tbck-Related Intellectual Disability Syndrome
Epicanthus, Neurogenic bladder, Corneal opacity, Eczema, Decreased response to growth hormone sti... ORPHA:488632
Myasthenic Syndrome, Congenital, 10
Fatigable weakness, Ptosis OMIM:254300
Chondrodysplasia-Difference Of Sex Development Syndrome
Telecanthus, Male pseudohermaphroditism, Hypoplasia of the iris, Deeply set eye, Blepharophimosis ORPHA:1422
Arboleda-Tham Syndrome
Bilateral cryptorchidism, Deeply set eye, Conjunctivitis, Gastroesophageal reflux, Chronic otitis... OMIM:616268
Cornelia De Lange Syndrome 2
Highly arched eyebrow, Synophrys, Long eyelashes, Gastroesophageal reflux, Downslanted palpebral ... OMIM:300590
Short Syndrome
Rieger anomaly, Telecanthus, Cataract, Ovarian cyst, Deeply set eye, Astigmatism, Megalocornea OMIM:269880
11Q22.2Q22.3 Microdeletion Syndrome
Epicanthus, Feeding difficulties, Thick eyebrow, Ptosis ORPHA:444002
X-Linked Creatine Transporter Deficiency
Aganglionic megacolon, Ileus, Athetosis, Constipation, Dystonia, Ptosis ORPHA:52503
Xeroderma Pigmentosum, Complementation Group E
Keratitis, Entropion, Conjunctivitis, Ectropion OMIM:278740
Congenital Myasthenic Syndromes With Glycosylation Defect
Abnormal peripheral nervous system synaptic transmission, Facial palsy, Fatigable weakness, Favor... ORPHA:353327
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation
Cataract, Deeply set eye, Horizontal eyebrow, Thick eyebrow, Gastrostomy tube feeding in infancy OMIM:618797
Intellectual Developmental Disorder, X-Linked, Syndromic 33
Eczema, Oral-pharyngeal dysphagia, Tremor, Hypertelorism, Synophrys, Nasolacrimal duct obstructio... OMIM:300966
X-Linked Intellectual Disability, Cilliers Type
Hypergonadotropic hypogonadism, Hypospadias, Cryptorchidism, Increased circulating gonadotropin l... ORPHA:163971
Sanjad-Sakati Syndrome
Hypoparathyroidism, Hypoplasia of penis, Intestinal obstruction, Corneal opacity, Cryptorchidism,... ORPHA:2323
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome
Recurrent skin infections, Hypertelorism, Hypothyroidism, Feeding difficulties, Recurrent otitis ... ORPHA:391372
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy
Optic atrophy, Abnormal auditory evoked potentials, Ptosis OMIM:125250
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities
Deeply set eye, Epicanthus, Constipation, Feeding difficulties OMIM:618430
Chromosome 10Q22.3-Q23.2 Deletion Syndrome
Upslanted palpebral fissure, Deeply set eye, Breast aplasia, Hypertelorism OMIM:612242
Noonan Syndrome 11
Feeding difficulties in infancy, Hypertelorism, Downslanted palpebral fissures, Ptosis OMIM:618499
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome
Epicanthus, Lacrimal duct stenosis, Intestinal malrotation, Cryptorchidism, Optic atrophy, Feedin... ORPHA:457193
Dyskeratosis Congenita, X-Linked
Cataract, Sparse eyelashes, Hypospadias, Phimosis, Cryptorchidism, Esophageal stricture, Optic at... OMIM:305000
Mcdonough Syndrome
Hypertelorism, Cryptorchidism, Synophrys, Short palpebral fissure, Ptosis ORPHA:2471
Oculoauriculofrontonasal Syndrome
Limbal dermoid, Upper eyelid coloboma, Hypertelorism ORPHA:398156
Smith-Magenis Syndrome
Deeply set eye, Synophrys, Constipation OMIM:182290
X-Linked Intellectual Disability Due To Gria3 Mutations
Cryptorchidism, Deeply set eye, Eversion of lateral third of lower eyelids, Micropenis, Ptosis ORPHA:364028
Chromosome 1Q41-Q42 Deletion Syndrome
Supernumerary nipple, Hypertelorism, Sparse eyebrow, Cryptorchidism, Hypotelorism, Upslanted palp... OMIM:612530
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Optic atrophy, Feeding difficulties, Upsl... OMIM:616975
Lassa Fever
Nausea and vomiting, Abdominal pain, Diarrhea, Conjunctivitis, Dysphagia ORPHA:99824
Proximal Myopathy With Extrapyramidal Signs
Resting tremor, Dystonia, Optic atrophy, Ptosis ORPHA:401768
Combined Oxidative Phosphorylation Deficiency 47
Cryptorchidism, Cataract, Dysphagia, Ptosis OMIM:618958
Trichinellosis
Skin rash, Facial palsy, Central retinal artery occlusion, Anisocoria, Conjunctivitis, Dysphagia,... ORPHA:863
17Q12 Microduplication Syndrome
Deeply set eye, Synophrys, Tracheoesophageal fistula ORPHA:261272
Spastic Paraplegia-Severe Developmental Delay-Epilepsy Syndrome
Deeply set eye, Hypertelorism, Dystonia ORPHA:464282
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Epicanthus, Hypospadias, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, Upslante... OMIM:618659
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Epicanthus, Vaginal hernia, Lacrimation abnormality ORPHA:2916
Phelan-Mcdermid Syndrome
Epicanthus, Palpebral edema, Hypertelorism, Feeding difficulties, Hypohidrosis, Deeply set eye, L... OMIM:606232
Toxic Epidermal Necrolysis
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Entropion, Abdominal pai... ORPHA:537
Chromosome Xq27.3-Q28 Duplication Syndrome
Cryptorchidism, Increased circulating gonadotropin level, Deeply set eye, Hypogonadism, Decreased... OMIM:300869
Alagille Syndrome
Keratoconus, Corneal dystrophy, Hypertelorism, Cryptorchidism, Abnormal pupil morphology, Deeply ... ORPHA:52
Ssr4-Cdg
Abnormality of the gastrointestinal tract, Feeding difficulties, Deeply set eye, Gastroesophageal... ORPHA:370927
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Cryptorchidism, Decreased testicular size, Deeply set eye ORPHA:85279
Chromosome 3Pter-P25 Deletion Syndrome
Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Synophrys, Feeding difficulties... OMIM:613792
Rhyns Syndrome
Decreased response to growth hormone stimulation test, Pituitary hypothyroidism, Deeply set eye, ... OMIM:602152
Delayed Speech-Facial Asymmetry-Strabismus-Ear Lobe Creases Syndrome
Hypertelorism, Unilateral narrow palpebral fissure, Downslanted palpebral fissures, Ptosis ORPHA:3038
Mitochondrial Complex Ii Deficiency, Nuclear Type 1
Dystonia, Optic atrophy, Ptosis OMIM:252011
Isolated Atp Synthase Deficiency
Cataract, Optic atrophy, Hypogonadism, Dystonia, Hypothyroidism, Ptosis ORPHA:254913
Helix Syndrome
Anhidrosis, Hyperparathyroidism, Xerostomia, Hypohidrosis, Alacrima OMIM:617671
Avian Influenza
Pneumonia, Abdominal pain, Diarrhea, Hepatitis, Conjunctivitis, Vomiting, Infectious encephalitis... ORPHA:454836
Proximal Xq28 Duplication Syndrome
Epicanthus, Hypospadias, Cryptorchidism, Blepharophimosis, Ptosis ORPHA:1762
Neurodevelopmental Disorder With Speech Delay And Variable Ocular Anomalies
Epicanthus, Hypertelorism, Sparse eyebrow, Downslanted palpebral fissures, Ptosis OMIM:619989
Chronic Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Feedi... ORPHA:529808
Acute Bilirubin Encephalopathy
Conjunctival icterus, Abnormal conjunctiva morphology, Abnormal auditory evoked potentials, Feedi... ORPHA:529799
Stickler Syndrome, Type Vi
Astigmatism, Downslanted palpebral fissures, Ptosis OMIM:620022
Legius Syndrome
Hypertelorism, Epicanthus, Downslanted palpebral fissures, Ptosis OMIM:611431
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures
Telecanthus, Torticollis, Cryptorchidism, Upslanted palpebral fissure, Athetosis, Choreoathetosis... OMIM:620224
Noonan Syndrome 9
Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Cryptorchidism, Downslanted palpeb... OMIM:616559
Beaulieu-Boycott-Innes Syndrome
Upslanted palpebral fissure, Deeply set eye, Endometriosis, Short palpebral fissure OMIM:613680
Autosomal Dominant Optic Atrophy, Classic Form
Cataract, Optic atrophy, Feeding difficulties, Hypogonadism, Dysphagia, Temporal optic disc pallo... ORPHA:98673
Congenital Myopathy 22A, Classic
Bilateral ptosis, Synophrys, Deeply set eye, Proptosis, Downslanted palpebral fissures, Ptosis OMIM:620351
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Upslanted palpebral fissure, Deeply set eye, Astigmatism, G... OMIM:610954
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome
Deeply set eye, Feeding difficulties OMIM:617915
Cutis Laxa, Autosomal Recessive, Type Iib
Hypertelorism, Hypotelorism, Deeply set eye, Gastroesophageal reflux, Downslanted palpebral fissures OMIM:612940
D-Glyceric Aciduria
Optic nerve hypoplasia, Opisthotonus, Deeply set eye, Gastroesophageal reflux, Micropenis OMIM:220120
Oculodentodigital Dysplasia
Epicanthus, Cataract, Neurogenic bladder, Hypertelorism, Optic atrophy, Abnormality iris morpholo... ORPHA:2710
Dyskeratosis Congenita, Autosomal Recessive 1
Sparse eyelashes, Esophageal stricture, Nasolacrimal duct obstruction, Pterygium, Epiphora OMIM:224230
Xeroderma Pigmentosum, Complementation Group C
Keratitis, Entropion, Conjunctivitis, Ectropion OMIM:278720
Congenital Myopathy With Myasthenic-Like Onset
Fatigable weakness, Feeding difficulties, Ptosis ORPHA:424107
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly, Highly arched eyebrow, Synophrys, Upslanted palpebral fissure, Deeply set eye, Th... OMIM:270450
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome
Blepharophimosis, Deeply set eye ORPHA:2570
Adult-Onset Autosomal Recessive Cerebellar Ataxia
Intention tremor, Cataract, Tortuosity of conjunctival vessels, Ptosis ORPHA:284289
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Cryptorchidism, Hypotelorism, Feeding difficulties, Deeply set eye, Downslanted palpebral fissures OMIM:602471
Leukodystrophy, Hypomyelinating, 20
Torticollis, Feeding difficulties, Chronic constipation, Dystonia, Ptosis OMIM:619071
Teebi Hypertelorism Syndrome 2
Hypospadias, Hypertelorism, Upper eyelid coloboma, Proptosis, Thick eyebrow, Ptosis OMIM:619736
Oculocerebrorenal Syndrome Of Lowe
Hyperparathyroidism, Cataract, Corneal opacity, Lacrimation abnormality, Malabsorption, Feeding d... ORPHA:534
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis
Epicanthus, Telecanthus, Optic atrophy, Deeply set eye, Gastrostomy tube feeding in infancy OMIM:618590
Say-Barber-Miller Syndrome
Eczema, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Erythema nodosum, Cryptorchidism, O... ORPHA:3132
Mitochondrial Dna Depletion Syndrome 11
Hypergonadotropic hypogonadism, Facial palsy, Chronic diarrhea, Nausea, Ptosis OMIM:615084
Megalencephaly
Macroorchidism, Deeply set eye, Long penis ORPHA:2477
Fibrosis Of Extraocular Muscles, Congenital, 3A, With Or Without Extraocular Involvement
Facial palsy, Superior rectus atrophy, Levator palpebrae superioris atrophy, Congenital fibrosis ... OMIM:600638
Developmental Delay With Or Without Dysmorphic Facies And Autism
Epicanthus, Small scrotum, Highly arched eyebrow, Supernumerary nipple, Hypertelorism, Cryptorchi... OMIM:618454
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Anhidrosis, Tremor, Hypohidrosis, Abnormal autonomic nervo... OMIM:146500
Congenital Myopathy 4A, Autosomal Dominant
Feeding difficulties, Facial palsy, Dysphagia, Ptosis OMIM:255310
12Q14 Microdeletion Syndrome
Intestinal malrotation, Hypertelorism, Tremor, Synophrys, Deeply set eye, Thick eyebrow ORPHA:94063
2Q37 Microdeletion Syndrome
Eczema, Supernumerary nipple, Highly arched eyebrow, Sparse eyebrow, Pyloric stenosis, Upslanted ... ORPHA:1001
Congenital Ptosis
Unilateral ptosis, Congenital Horner syndrome, Telecanthus, Anhidrosis, Congenital facial diplegi... ORPHA:91411
Frias Syndrome
Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis OMIM:609640
Non-Specific Early-Onset Epileptic Encephalopathy
Tremor, Optic atrophy, Feeding difficulties, Gastroesophageal reflux, Downslanted palpebral fissu... ORPHA:442835
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Deeply set eye, Astigmatism, Optic atrophy ORPHA:480898
Stevens-Johnson Syndrome
Acute hepatic failure, Nausea and vomiting, Gastrointestinal hemorrhage, Entropion, Abdominal pai... ORPHA:36426
Mosaic Variegated Aneuploidy Syndrome 2
Epicanthus, Decreased response to growth hormone stimulation test, Hypothyroidism, Hypotelorism, ... OMIM:614114
Aarskog-Scott Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Shawl scrotum, Megalocornea, Downslanted palpebral fis... ORPHA:915
8Q21.11 Microdeletion Syndrome
Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Eczema, Hypoplasia of... ORPHA:284160
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities
Supernumerary nipple, Hypertelorism, Synophrys, Upslanted palpebral fissure, Ptosis OMIM:616083
Juberg-Hayward Syndrome
Hypertelorism, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Ptosis OMIM:216100
Lymphedema-Distichiasis Syndrome
Ectropion, Distichiasis, Conjunctivitis, Recurrent corneal erosions, Corneal ulceration, Ptosis OMIM:153400
Hyperuricemia, Infantile, With Abnormal Behavior And Normal Hypoxanthine Guanine Phosphoribosyltransferase
Alacrima OMIM:240000
Visceral Neuropathy-Brain Anomalies-Facial Dysmorphism-Developmental Delay Syndrome
Lacrimal duct stenosis, Intestinal pseudo-obstruction, Sparse eyebrow, Cryptorchidism, Constipati... ORPHA:73246
Dopa-Responsive Dystonia Due To Sepiapterin Reductase Deficiency
Oculogyric crisis, Tremor, Hyperhidrosis, Dystonia, Ptosis ORPHA:70594
Facial Paresis, Hereditary Congenital, 3
Unilateral ptosis, Epicanthus, Facial palsy, Lagophthalmos, Feeding difficulties, Dysphagia OMIM:614744
Machado-Joseph Disease
Dysphagia, Proptosis, Abnormal autonomic nervous system physiology, Dystonia, Ptosis OMIM:109150
Dyskeratosis Congenita, Digenic
Sparse eyelashes, Bilateral ptosis, Gastroesophageal reflux, Dysphagia, Decreased testicular size... OMIM:620040
Hengel-Maroofian-Schols Syndrome
Epicanthus, Hypertelorism, Synophrys, Dystonia, Thick eyebrow, Ptosis OMIM:619641
Pelviscapular Dysplasia
Blepharophimosis, Deeply set eye, Hypertelorism ORPHA:93333
Myopathy With Extrapyramidal Signs
Epicanthus, Hypertelorism, Tremor, Optic atrophy, Choreoathetosis, Dystonia, Ptosis OMIM:615673
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Deeply set eye, Astigmatism, Optic nerve dysplasia OMIM:617296
Combined Oxidative Phosphorylation Deficiency 7
Optic atrophy, Paralytic ileus, Facial diplegia, Dysphagia, Facial paralysis, Ptosis OMIM:613559
Transketolase Deficiency
Cataract, Conjunctivitis, Uveitis, Seborrheic dermatitis ORPHA:488618
Myasthenic Syndrome, Congenital, 3C, Associated With Acetylcholine Receptor Deficiency
Facial palsy, Feeding difficulties, Dysphagia, Poor suck, Ptosis OMIM:616323
Duane Retraction Syndrome
Central heterochromia, Abnormal pupil morphology, Anorectal anomaly, Microcornea, Blepharospasm, ... ORPHA:233
Coenzyme Q10 Deficiency, Primary, 4
Tremor, Ptosis OMIM:612016
Oculopharyngodistal Myopathy 3
Tremor, Dysphagia, Ptosis OMIM:619473
Buratti-Harel Syndrome
Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Recurrent pneumonia, Gastroesophageal ref... OMIM:619314
Intellectual Disability-Myopathy-Short Stature-Endocrine Defect Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Facial palsy, Hypertelorism, Tracheoesophagea... ORPHA:3068
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome
Deeply set eye ORPHA:521390
Tumoral Calcinosis, Normophosphatemic, Familial
Conjunctivitis OMIM:610455
Intellectual Developmental Disorder, Autosomal Dominant 29
Hypertelorism, Cryptorchidism, Synophrys, Deeply set eye, Astigmatism, Downslanted palpebral fiss... OMIM:616078
7Q11.23 Microduplication Syndrome
Hypospadias, Hypertelorism, Cryptorchidism, Narrow palpebral fissure, Abnormal optic disc morphol... ORPHA:96121
Pyruvate Dehydrogenase E2 Deficiency
Paroxysmal dystonia, Generalized dystonia, Feeding difficulties, Choreoathetosis, Dystonia, Ptosis OMIM:245348
Hypotonia, Ataxia, And Delayed Development Syndrome
Hypertelorism, Cryptorchidism, Synophrys, Micropenis, Upslanted palpebral fissure, Deeply set eye... OMIM:617330
Relapsing Polychondritis
Episcleritis, Pericarditis, Cataract, Chondritis of pinna, Keratitis, Myocarditis, Hepatitis, Uve... ORPHA:728
Agammaglobulinemia, X-Linked
Enteroviral hepatitis, Prostatitis, Epididymitis, Recurrent pneumonia, Bronchiectasis, Chronic di... OMIM:300755
Baraitser-Winter Syndrome 2
Telecanthus, Highly arched eyebrow, Hypertelorism, Long palpebral fissure, Ptosis OMIM:614583
Postsynaptic Congenital Myasthenic Syndromes
Facial palsy, Fatigable weakness of neck muscles, Fatigable weakness of respiratory muscles, Decr... ORPHA:98913
Arthrogryposis, Distal, Type 2B3
Downslanted palpebral fissures, Ptosis OMIM:618436
Glycogen Storage Disease Iii
Deeply set eye OMIM:232400
Microphthalmia, Isolated, With Coloboma 9
Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral fissure, Ocular anterior segment dysge... OMIM:615145
Oculopharyngodistal Myopathy 2
Ptosis OMIM:618940
Pseudohypoparathyroidism Type 1B
Abdominal symptom, Cataract, Decreased response to growth hormone stimulation test, Pseudohypopar... ORPHA:94089
Blepharophimosis With Ptosis, Syndactyly, And Short Stature
Ptosis, Synophrys, Blepharophimosis, Thick eyebrow, Frontalis muscle weakness OMIM:210745
Cleft Palate-Large Ears-Small Head Syndrome
Hypospadias, Ptosis ORPHA:2013
Ophthalmoplegia Totalis With Ptosis And Miosis
Ptosis OMIM:258400
Distal Xq28 Microduplication Syndrome
Deeply set eye, Hypothyroidism, Aplasia/Hypoplasia of the eyebrow, Upper eyelid edema ORPHA:293939
Neuropathy, Congenital Hypomyelinating, 3
Decreased motor nerve conduction velocity, Epicanthus, Facial diplegia, Gastroesophageal reflux, ... OMIM:618186
Hypotonia-Cystinuria Syndrome
Hypergonadotropic hypogonadism, Facial palsy, Decreased response to growth hormone stimulation te... OMIM:606407
Wac-Related Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome
Epicanthus, Hypertelorism, Synophrys, Gastrointestinal dysmotility, Feeding difficulties, Deeply ... ORPHA:466943
Acrofrontofacionasal Dysostosis
Bifid scrotum, Hypospadias, Hypertelorism, Brushfield spots, Eyelid coloboma, Downslanted palpebr... ORPHA:1784
Noonan Syndrome 13
Epicanthus, Highly arched eyebrow, Hypertelorism, Almond-shaped palpebral fissure, Cryptorchidism... OMIM:619087
Joubert Syndrome With Renal Defect
Aganglionic megacolon, Highly arched eyebrow, Tremor, Feeding difficulties, Iris coloboma, Ptosis ORPHA:220497
Gaucher Disease, Atypical, Due To Saposin C Deficiency
Intention tremor, Ptosis OMIM:610539
3Mc Syndrome 3
Bifid scrotum, Corneal opacity, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Micropenis,... OMIM:248340
Myopathy, Centronuclear, 1
Facial palsy, Ptosis OMIM:160150
Wernicke-Korsakoff Syndrome
Ptosis OMIM:277730
Mitochondrial Dna Depletion Syndrome 5 (Encephalomyopathic With Or Without Methylmalonic Aciduria)
Feeding difficulties in infancy, Hyperhidrosis, Athetosis, Facial diplegia, Gastroesophageal refl... OMIM:612073
Goldberg-Shprintzen Syndrome
Telecanthus, Aganglionic megacolon, Highly arched eyebrow, Synophrys, Corneal erosion, Megalocorn... OMIM:609460
Biotinidase Deficiency
Skin rash, Optic neuropathy, Optic atrophy, Conjunctivitis, Eczematoid dermatitis ORPHA:79241
Mowat-Wilson Syndrome
Bifid scrotum, Cataract, Aganglionic megacolon, Hypospadias, Supernumerary nipple, Hypertelorism,... OMIM:235730
Microcephalic Primordial Dwarfism, Montreal Type
Hyperhidrosis, Cryptorchidism, Congenital pyloric atresia, Ptosis ORPHA:2617
Autosomal Recessive Multiple Pterygium Syndrome
Epicanthus, Telecanthus, Hypoplasia of penis, Small scrotum, Multiple pterygia, Abnormal eyelid m... ORPHA:2990
Neurodevelopmental Disorder With Microcephaly, Seizures, And Brain Atrophy
Optic disc pallor, Long eyelashes, Ptosis OMIM:619076
Tetrasomy 12P
Telecanthus, Hypertelorism, Sparse eyebrow, Hypohidrosis, Upslanted palpebral fissure, Ptosis ORPHA:884
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cryptorchidism, Upslanted palpebral fissure, Deeply set eye, Cholelithiasis, Micropenis, Decrease... OMIM:300534
Rajab Interstitial Lung Disease With Brain Calcifications 2
Feeding difficulties in infancy, Deeply set eye, Hypopituitarism, Hypothyroidism OMIM:619013
Oculopharyngodistal Myopathy 4
Tremor, Postural tremor, Dysphagia, Ptosis OMIM:619790
Congenital Myopathy 19
Cryptorchidism, Dysphagia, Ptosis OMIM:618578
Intellectual Developmental Disorder, Autosomal Dominant 7
Feeding difficulties in infancy, Deeply set eye, Hypotelorism OMIM:614104
King-Denborough Syndrome
Hypertelorism, Bilateral cryptorchidism, Bilateral ptosis, Cryptorchidism, Downslanted palpebral ... OMIM:619542
Dural Sinus Malformation
Nausea and vomiting, Papilledema, Chemosis, Proptosis ORPHA:97339
Dilated Cardiomyopathy-Hypergonadotropic Hypogonadism Syndrome
Precocious puberty, Polycystic ovaries, Hypergonadotropic hypogonadism, Ptosis ORPHA:2229
Angelman Syndrome
Keratoconus, Optic disc pallor, Abnormality of the gastrointestinal tract, Iris hypopigmentation,... ORPHA:72
Distal Duplication 15Q
Cryptorchidism, Blepharophimosis, Abnormality of female external genitalia, Downslanted palpebral... ORPHA:1707
Dyrk1A-Related Intellectual Disability Syndrome
Optic disc pallor, Corneal opacity, Eczema, Anterior pituitary hypoplasia, Hypospadias, Cryptorch... ORPHA:464306
Jacobsen Syndrome
Epicanthus, Telecanthus, Hypospadias, Hypertelorism, Abnormal eyelash morphology, Cryptorchidism,... OMIM:147791
De Barsy Syndrome
Epicanthus, Cataract, Corneal opacity, Hypertelorism, Cryptorchidism, Athetosis, Deeply set eye, ... ORPHA:2962
Joubert Syndrome
Aganglionic megacolon, Highly arched eyebrow, Tremor, Feeding difficulties in infancy, Iris colob... ORPHA:475
Sarcoidosis, Susceptibility To, 1
Optic neuropathy, Anorexia, Iridocyclitis, Enlarged lacrimal glands, Bronchiectasis, Uveitis, Art... OMIM:181000
Blepharoptosis, Myopia, And Ectopia Lentis
Congenital ptosis, Ectopia lentis OMIM:110150
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 2
Amyotrophic lateral sclerosis, Neurogenic bladder, Dysphagia, Ptosis OMIM:615911
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Cataract, Hypospadias, Hypertelorism, Recurrent pneumonia, Microcornea, Gastroesophag... OMIM:616449
Hartsfield Syndrome
Hypertelorism, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2117
Severe Intellectual Disability-Short Stature-Behavioral Abnormalities-Facial Dysmorphism Syndrome
Deeply set eye, Synophrys ORPHA:391307
Baraitser-Winter Cerebrofrontofacial Syndrome
Epicanthus, Telecanthus, Palpebral edema, Highly arched eyebrow, Hypertelorism, Optic disc colobo... ORPHA:2995
Frontonasal Dysplasia 1
Hypertelorism, Epicanthus, Cataract, Ptosis OMIM:136760
Proboscis Lateralis
External genital hypoplasia, Abnormal morphology of bony orbit of skull, Microcornea, Eyelid colo... ORPHA:141099
Cousin Syndrome
Hypertelorism, Ambiguous genitalia, female, Microcornea, Narrow palpebral fissure, Deeply set eye... OMIM:260660
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Ptosis, Palpebral edema, Iris coloboma, Ectopia lentis ORPHA:1259
Aromatic L-Amino Acid Decarboxylase Deficiency
Torticollis, Exaggerated startle response, Oculogyric crisis, Feeding difficulties in infancy, Di... OMIM:608643
Bartsocas-Papas Syndrome 2
Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium OMIM:619339
Limb-Mammary Syndrome
Absent lacrimal punctum, Psoriasiform dermatitis, Chronic irritative conjunctivitis, Absent nippl... ORPHA:69085
Listeriosis
Pericarditis, Osteomyelitis, Pneumonia, Abdominal pain, Tremor, Pustule, Peritonitis, Myocarditis... ORPHA:533
Mitochondrial Complex Iv Deficiency, Nuclear Type 15
Nasogastric tube feeding in infancy, Deeply set eye OMIM:619059
Myasthenic Syndrome, Congenital, 20, Presynaptic
Facial palsy, Feeding difficulties, Fatigable weakness, Dysphagia, Poor suck, Ptosis OMIM:617143
Rubinstein-Taybi Syndrome
Telecanthus, Epicanthus, Highly arched eyebrow, Hypertelorism, Feeding difficulties in infancy, C... ORPHA:783
Noonan Syndrome 8
Epicanthus, Eczema, Hypertelorism, Cryptorchidism, Feeding difficulties, Downslanted palpebral fi... OMIM:615355
Prader-Willi Syndrome Due To Translocation
Hypogonadotropic hypogonadism, Decreased response to growth hormone stimulation test, External ge... ORPHA:177907
Cogan Syndrome
Episcleritis, Keratitis, Uveitis, Scleritis, Conjunctivitis, Inflammatory abnormality of the eye ORPHA:1467
Amyloidosis, Hereditary, Transthyretin-Related
Ptosis, Tremor, Diarrhea, Constipation, Abnormal autonomic nervous system physiology, Episodic vo... OMIM:105210
Adult Syndrome
Absent nipple, Eczema, Nasolacrimal duct obstruction, Conjunctivitis, Hypoplastic nipples, Breast... OMIM:103285
Congenital Heart Defects And Skeletal Malformations Syndrome
Medial flaring of the eyebrow, Hypospadias, Intestinal malrotation, Cryptorchidism, Upslanted pal... OMIM:617602
Cerebrooculofacioskeletal Syndrome 4
Blepharophimosis, Deeply set eye OMIM:610758
Axial Mesodermal Dysplasia Spectrum
Hypertelorism, Anorectal anomaly, Tracheoesophageal fistula, Constipation, Gastroesophageal reflu... ORPHA:1834
Nocardiosis
Pericarditis, Osteomyelitis, Pneumonia, Anorexia, Keratitis, Dacryocystitis, Lymphadenitis, Perit... ORPHA:31204
Chromosome 13Q33-Q34 Deletion Syndrome
Bifid scrotum, Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Penoscrotal transposition,... OMIM:619148
Baraitser-Winter Syndrome 1
Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Long palpebral fissure, Micrope... OMIM:243310
Exudative Vitreoretinopathy 2, X-Linked
Peripheral retinal avascularization, Deeply set eye, Shallow anterior chamber, Retinal neovascula... OMIM:305390
Bartsocas-Papas Syndrome
Corneal opacity, Ankyloblepharon, Popliteal pterygium, Sparse or absent eyelashes, Eyelid colobom... ORPHA:1234
Congenital Myopathy 6 With Ophthalmoplegia
Dysphagia, Ptosis OMIM:605637
Myasthenic Syndrome, Congenital, 22
Feeding difficulties, Decreased response to growth hormone stimulation test, Ptosis OMIM:616224
Ectodermal Dysplasia, Sensorineural Hearing Loss, And Distinctive Facial Features
Entropion, Hypospadias, Trichiasis, Sparse eyebrow, Deeply set eye, Thin eyebrow OMIM:609944
Muenke Syndrome
Hypertelorism, Proptosis, Recurrent otitis media, Downslanted palpebral fissures, Ptosis OMIM:602849
Intellectual Developmental Disorder, Autosomal Dominant 68
Epicanthus, Feeding difficulties, Deeply set eye, Astigmatism, Constipation, Gastroesophageal ref... OMIM:619934
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures
Epicanthus, Eczema, Hypertelorism, Rectal prolapse, Optic disc coloboma, Pseudohypoparathyroidism... OMIM:617157
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome
Epicanthus, Telecanthus, Hypertelorism, Cryptorchidism, Shawl scrotum, Downslanted palpebral fiss... ORPHA:1778
8P23.1 Microdeletion Syndrome
Epicanthus, Hypospadias, Cryptorchidism, Upslanted palpebral fissure, Deeply set eye, Downslanted... ORPHA:251071
Myopathy, Centronuclear, 2
Feeding difficulties in infancy, Facial palsy, Ptosis OMIM:255200
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 14
Cataract, Feeding difficulties, Ileal atresia, Ptosis OMIM:615351
Ophthalmoplegia, External, And Myopia
Ptosis OMIM:311000
Plasminogen Deficiency, Type I
Nephritis, Conjunctivitis, Periodontitis, Duodenal ulcer OMIM:217090
Granulomatosis With Polyangiitis
Episcleritis, Sinusitis, Keratitis, Uveitis, Conjunctivitis, Chronic otitis media OMIM:608710
Thiamine Metabolism Dysfunction Syndrome 2 (Biotin- Or Thiamine-Responsive Type)
Ptosis, Facial palsy, Truncal titubation, Dysphagia, Opisthotonus, Vomiting, Dystonia, Craniofaci... OMIM:607483
Kaufman Oculocerebrofacial Syndrome
Optic disc pallor, Epicanthus, Telecanthus, Intestinal malrotation, Hypertelorism, Sparse eyebrow... OMIM:244450
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome
Optic disc pallor, Hypertelorism, Deeply set eye, Gastrostomy tube feeding in infancy ORPHA:423479
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
External genital hypoplasia, Feeding difficulties in infancy, Dacryocystitis, Cryptorchidism, Nas... ORPHA:251028
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Optic disc pallor, Corneal opacity, Hypospadias, Cryptorchidism, Feeding difficulties, Deeply set... ORPHA:464311
Al-Raqad Syndrome
Chronic constipation, Deeply set eye OMIM:616459
Leigh Syndrome
Dystonia, Optic atrophy, Ptosis OMIM:256000
Birk-Landau-Perez Syndrome
Optic atrophy, Feeding difficulties, Upslanted palpebral fissure, Choreoathetosis, Tubulointersti... OMIM:617595
Intestinal Botulism
Nausea and vomiting, Mydriasis, Diarrhea, Xerostomia, Dysphagia, Ptosis ORPHA:178481
Pyruvate Dehydrogenase E1-Alpha Deficiency
Tremor, Dystonia, Choreoathetosis, Ptosis OMIM:312170
Chromosome 5Q12 Deletion Syndrome
Epicanthus, Hypertelorism, Astigmatism, Long palpebral fissure, Ptosis OMIM:615668
Angelman Syndrome
Feeding difficulties in infancy, Blue irides, Limb tremor, Deeply set eye, Constipation OMIM:105830
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities
Highly arched eyebrow, Feeding difficulties, Upslanted palpebral fissure, Deeply set eye, Gastros... OMIM:615802
Kindler Epidermolysis Bullosa
Corneal opacity, Recurrent skin infections, Phimosis, Esophageal stricture, Cheilitis, Inflammati... ORPHA:2908
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Epicanthus, Hypertelorism, Cryptorchidism, Upslanted palpebral fissure, Horizontal eyebrow, Ocula... ORPHA:369891
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1
Resting tremor, Cataract, Hypergonadotropic hypogonadism, Facial palsy, Gastroparesis, Hand tremo... OMIM:157640
Chromosome 2P16.1-P15 Deletion Syndrome
Telecanthus, Epicanthus, Optic nerve hypoplasia, Cryptorchidism, Feeding difficulties, Hypogonadi... OMIM:612513
Acrofrontofacionasal Dysostosis 2
Bifid scrotum, Hypospadias, Hypertelorism, Proptosis, Shawl scrotum, Downslanted palpebral fissur... OMIM:239710
Igg4-Related Ophthalmic Disease
Sinusitis, Cholangitis, Abnormal morphology of bony orbit of skull, Abnormal eyelid morphology, A... ORPHA:449563
4Q21 Microdeletion Syndrome
Hypertelorism, Tremor, Synophrys, Long eyelashes, Ptosis ORPHA:238750
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders
Epicanthus, Telecanthus, Optic atrophy, Long eyelashes, Conjunctivitis, Recurrent gastroenteritis ORPHA:505248
Spinocerebellar Ataxia-Dysmorphism Syndrome
Epicanthus, Proptosis, Optic atrophy, Ptosis ORPHA:1185
Aniridia 1
Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia lentis, Bilateral ptosis... OMIM:106210
Joubert Syndrome With Ocular Defect
Aganglionic megacolon, Highly arched eyebrow, Tremor, Feeding difficulties, Iris coloboma, Ptosis ORPHA:220493
Immunodeficiency 26 With Or Without Neurologic Abnormalities
Deeply set eye, Micropenis, Recurrent aphthous stomatitis OMIM:615966
Oculopharyngeal Muscular Dystrophy
Ptosis ORPHA:270
Farber Disease
Corneal opacity, Chronic diarrhea, Feeding difficulties, Arthritis, Abnormal conjunctiva morpholo... ORPHA:333
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Deeply set eye OMIM:608154
Proteasome-Associated Autoinflammatory Syndrome 3
Myositis, Sinusitis, Skin rash, Arthritis, Panniculitis, Conjunctivitis OMIM:617591
Amoebiasis Due To Free-Living Amoebae
Sinusitis, Facial palsy, Pneumonia, Pustule, Vomiting, Increased tear production, Corneal perfora... ORPHA:68
Spinocerebellar Ataxia, Autosomal Recessive 13
Tremor, Ptosis OMIM:614831
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Epicanthus, Hypospadias, Endometriosis, Deeply set eye, Micropenis ORPHA:363444
Neurodevelopmental Disorder With Seizures And Speech And Walking Impairment
Deeply set eye, Constipation OMIM:618480
Hadziselimovic Syndrome
Hypotelorism, Epicanthus, Ptosis OMIM:612946
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly
Epicanthus, Hypertelorism, Tremor, Synophrys, Feeding difficulties, Upslanted palpebral fissure, ... OMIM:617061
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Dysphagia, Abnormal upper motor neuron morphology, Ptosis ORPHA:275872
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type
Hypospadias, Hypertelorism, Cryptorchidism, Optic atrophy, Micropenis, Upslanted palpebral fissur... OMIM:309590
Congenital Myopathy 1B, Autosomal Recessive
Feeding difficulties in infancy, Facial palsy, Ptosis OMIM:255320
Mosaic Variegated Aneuploidy Syndrome 3
Deeply set eye OMIM:617598
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Epicanthus, Cataract, Hypertelorism, Optic atrophy, Ptosis OMIM:220500
Adult Intestinal Botulism
Diarrhea, Ptosis ORPHA:178487
Agammaglobulinemia 1, Autosomal Recessive
Recurrent pneumonia, Chronic diarrhea, Bronchiectasis, Conjunctivitis, Rectal abscess, Recurrent ... OMIM:601495
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1
Ptosis, Facial palsy, Bilateral ptosis, Optic atrophy, Dysphagia, Dystonia, Intention tremor OMIM:258450
Dystonia 34, Myoclonic
Torticollis, Writer's cramp, Hand tremor, Head tremor, Dystonia, Ptosis OMIM:619724
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis
Downslanted palpebral fissures, Optic nerve hypoplasia, Ptosis OMIM:618736
Sifrim-Hitz-Weiss Syndrome
Epicanthus, Hypogonadotropic hypogonadism, Hypertelorism, Cryptorchidism, Upslanted palpebral fis... OMIM:617159
Intellectual Developmental Disorder, Autosomal Dominant 54
Anhidrosis, Eczema, Poor appetite, Gastrointestinal dysmotility, Feeding difficulties, Chronic co... OMIM:617799
Localized Scleroderma
Fasciitis, Uveitis, Arthritis, Deeply set eye, Proptosis, Gastroesophageal reflux, Esophagitis, H... ORPHA:90289
Deafness-Craniofacial Syndrome
Upslanted palpebral fissure, Deeply set eye ORPHA:3241
Dermoodontodysplasia
Ptosis, Hypohidrosis, Abnormal eyelid morphology ORPHA:1660
Bangstad Syndrome
Abnormality of the parathyroid gland, Polycystic ovaries, Deeply set eye, Increased circulating c... ORPHA:1227
Carcinoid Syndrome
Nausea and vomiting, Lack of bowel sounds, Protracted diarrhea, Episodic abdominal pain, Small in... ORPHA:100093
Cerebral Creatine Deficiency Syndrome 1
Aganglionic megacolon, Feeding difficulties in infancy, Ileus, Vomiting, Constipation, Dystonia, ... OMIM:300352
Fibrosis Of Extraocular Muscles, Congenital, 1
Bilateral ptosis, Congenital fibrosis of extraocular muscles, Levator palpebrae superioris atroph... OMIM:135700
Coffin-Siris Syndrome 5
Feeding difficulties, Long eyelashes, Thick eyebrow, Ptosis OMIM:616938
Neuroocular Syndrome
Thick eyebrow, Cataract, Highly arched eyebrow, Lagophthalmos, Brushfield spots, Stellate iris, S... OMIM:619539
Schwartz-Jampel Syndrome, Type 1
Cataract, Hypertelorism, Microcornea, Narrow palpebral fissure, Long eyelashes in irregular rows,... OMIM:255800
Pseudohypoparathyroidism Type 1C
Abdominal symptom, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:79444
Autosomal Recessive Congenital Cerebellar Ataxia Due To Mglur1 Deficiency
Ptosis ORPHA:324262
Spinocerebellar Ataxia 28
Dystonia, Ptosis OMIM:610246
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2
Dysphagia, Ptosis OMIM:613561
Chromosome 19Q13.11 Deletion Syndrome, Distal
Bifid scrotum, Sparse eyelashes, Hypospadias, Blepharophimosis, Sparse eyebrow, Cryptorchidism, F... OMIM:613026
Reactive Arthritis
Pericarditis, Osteomyelitis, Abdominal pain, Pustule, Diarrhea, Enthesitis, Arthritis, Inflammati... ORPHA:29207
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Hypertelorism, Feeding difficulties, Blepharophimosis, Downslanted palpebral fissures, Ptosis OMIM:617333
Noonan Syndrome 6
Epicanthus, Long eyebrows, Hypertelorism, Bilateral ptosis, Cryptorchidism, Feeding difficulties,... OMIM:613224
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder
Epicanthus, Telecanthus, Thick eyebrow, Highly arched eyebrow, Hypertelorism, Feeding difficultie... OMIM:617360
Mitochondrial Complex I Deficiency, Nuclear Type 4
Vomiting, Ptosis OMIM:618225
Xfe Progeroid Syndrome
Deeply set eye, Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels OMIM:610965
17Q24.2 Microdeletion Syndrome
Decreased response to growth hormone stimulation test, Hypertelorism, Synophrys, Pineal cyst, Fee... ORPHA:529962
Pituitary Hormone Deficiency, Combined Or Isolated, 1
Anterior pituitary hypoplasia, Reduced circulating prolactin concentration, Feeding difficulties,... OMIM:613038
Craniosynostosis 3
Ptosis OMIM:615314
Coffin-Siris Syndrome 12
Epicanthus, Hypospadias, Facial palsy, Highly arched eyebrow, Hypertelorism, Celiac disease, Cryp... OMIM:619325
Webb-Dattani Syndrome
Neurogenic bladder, Decreased response to growth hormone stimulation test, Anterior pituitary hyp... OMIM:615926
Heme Oxygenase 1 Deficiency
Chemosis, Nephritis OMIM:614034
Intellectual Developmental Disorder, Autosomal Recessive 65
Hypospadias, Supernumerary nipple, Cryptorchidism, Feeding difficulties, Astigmatism, Downslanted... OMIM:618109
Joubert Syndrome With Oculorenal Defect
Aganglionic megacolon, Iris coloboma, Highly arched eyebrow, Ptosis ORPHA:2318
Keipert Syndrome
Hypertelorism, Epicanthus, Ptosis ORPHA:2662
Kawasaki Disease
Nausea and vomiting, Pericarditis, Skin rash, Abdominal pain, Myocarditis, Diarrhea, Hepatitis, C... ORPHA:2331
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion
Decreased response to growth hormone stimulation test, Premature thelarche, Nasogastric tube feed... ORPHA:268261
Short Stature, Microcephaly, And Endocrine Dysfunction
Cataract, Cryptorchidism, Hypotelorism, Deeply set eye, Micropenis, Hypothyroidism OMIM:616541
Pseudohypoparathyroidism Type 1A
Abdominal symptom, Cataract, Hypergonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:79443
Acute Generalized Exanthematous Pustulosis
Predominantly dermal neutrophilic infiltrate, Pustule, Cheilitis, Eosinophilic dermal infiltratio... ORPHA:293173
Fumarase Deficiency
Necrotizing enterocolitis, Hypertelorism, Conjunctival icterus, Optic atrophy, Hepatic failure OMIM:606812
Hypotonia-Cystinuria Syndrome
Epicanthus, Ptosis ORPHA:163690
Faundes-Banka Syndrome
Epicanthus, Premature thelarche, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, ... OMIM:619376
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation
Epicanthus, Hypertelorism, Synophrys, Deeply set eye, Gastroesophageal reflux, Constipation, Dysp... ORPHA:466950
Typical Nemaline Myopathy
Facial palsy, Fatigable weakness of distal limb muscles, Fatiguable weakness of proximal limb mus... ORPHA:171436
Congenital Multicore Myopathy With External Ophthalmoplegia
Small scrotum, Pneumonia, Facial palsy, Cryptorchidism, Feeding difficulties, Facial diplegia, Mi... ORPHA:98905
Autosomal Recessive Cerebellar Ataxia-Pyramidal Signs-Nystagmus-Oculomotor Apraxia Syndrome
Optic disc pallor, Ptosis ORPHA:363429
Myasthenic Syndrome, Congenital, 14
Fatigable weakness, Ptosis OMIM:616228
Phacoanaphylactic Uveitis
Hypopyon, Anterior uveitis, Keratitis, Abnormal pupil morphology, Abnormal corneal endothelium mo... ORPHA:209959
1Q21.1 Microdeletion Syndrome
Epicanthus, Cataract, Cryptorchidism, Deeply set eye, Iris coloboma ORPHA:250989
Wiskott-Aldrich Syndrome
Sinusitis, Eczema, Keratitis, Hematemesis, Chronic diarrhea, Hematochezia, Arthritis, Inflammatio... ORPHA:906
Congenital Fibrosis Of Extraocular Muscles
Torticollis, Cataract, Hypogonadotropic hypogonadism, Optic nerve hypoplasia, Levator palpebrae s... ORPHA:45358
Moebius Syndrome
Epicanthus, Corneal opacity, Facial palsy, Hypogonadotropic hypogonadism, Feeding difficulties in... ORPHA:570
Deafness, Conductive, With Ptosis And Skeletal Anomalies
Chronic otitis media, Ptosis OMIM:221320
Fetal Trimethadione Syndrome
Epicanthus, Hypospadias, Synophrys, Ambiguous genitalia, Ptosis ORPHA:1913
Intellectual Developmental Disorder, Autosomal Recessive 71
Cryptorchidism, Micropenis, Deeply set eye OMIM:618504
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2
Dysphagia, Ptosis OMIM:608423
Endocrine-Cerebroosteodysplasia
Small scrotum, Hypospadias, Cryptorchidism, Ankyloblepharon, Hypotelorism, Sex reversal, Deeply s... OMIM:612651
Amoebic Keratitis
Iris atrophy, Anterior uveitis, Cataract, Abnormal corneal epithelium morphology, Abnormal anteri... ORPHA:67043
Stüve-Wiedemann Syndrome
Lacrimation abnormality, Feeding difficulties in infancy, Hyperhidrosis, Hypohidrosis, Abnormal a... ORPHA:3206
Intellectual Developmental Disorder, Autosomal Dominant 56
Feeding difficulties, Upslanted palpebral fissure, Gastroesophageal reflux, Dystonia, Ptosis OMIM:617854
Mucopolysaccharidosis, Type Iiid
Hypertelorism, Synophrys, Diarrhea, Deeply set eye, Dysphagia, Recurrent otitis media, Tube feedi... OMIM:252940
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Neurogenic bladder, Ptosis, Bilateral cryptorchidism, Feeding difficulties i... ORPHA:466722
Aniridia-Absent Patella Syndrome
Aniridia, Cryptorchidism, Cataract, Ptosis ORPHA:1069
Noonan Syndrome 4
Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Cryptorchidism, Blue irides, Downsla... OMIM:610733
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Bilateral ptosis, Optic atrophy, Absent brainstem auditory responses ORPHA:1215
Combined Oxidative Phosphorylation Deficiency 20
Ptosis OMIM:615917
Coffin-Siris Syndrome 2
Cryptorchidism, Feeding difficulties, Long eyelashes, Poor suck, Thick eyebrow, Ptosis OMIM:614607
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies
Hypertelorism, Ptosis OMIM:618731
1P36 Deletion Syndrome
Abnormal eyebrow morphology, Epicanthus, Cataract, Hypoplasia of penis, Hypospadias, Feeding diff... ORPHA:1606
Myasthenia Gravis
Fatigable weakness, Facial palsy, Dysphagia, Ptosis OMIM:254200
Brain Dopamine-Serotonin Vesicular Transport Disease
Limb dystonia, Oculogyric crisis, Tremor, Hyperhidrosis, Dystonia, Ptosis ORPHA:352649
Noonan Syndrome 5
Epicanthus, Hypertelorism, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:611553
Menke-Hennekam Syndrome 1
Epicanthus, Telecanthus, Cataract, Thick eyebrow, Cryptorchidism, Feeding difficulties, Upslanted... OMIM:618332
Wieacker-Wolff Syndrome
Facial palsy, Feeding difficulties, Upslanted palpebral fissure, Dystonia, Ptosis OMIM:314580
Oculocerebrocutaneous Syndrome
Corneal opacity, Hypertelorism, Cryptorchidism, Eyelid coloboma, Iris coloboma, Ptosis ORPHA:1647
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Deeply set eye, Optic atrophy ORPHA:60040
Leukoencephalopathy With Brain Stem And Spinal Cord Involvement-High Lactate Syndrome
Tremor, Optic atrophy, Ptosis ORPHA:137898
Foodborne Botulism
Nausea and vomiting, Mydriasis, Abdominal pain, Diarrhea, Xerostomia, Constipation, Dysphagia, Pt... ORPHA:228371
3Mc Syndrome
Telecanthus, Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Hypertelorism... ORPHA:293843
Ohdo Syndrome
Epicanthus, Small scrotum, Sparse eyebrow, Cryptorchidism, Feeding difficulties in infancy, Bleph... OMIM:249620
Chromosome 16P13.3 Duplication Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Nasolacrimal duct obstruction, Upslanted pa... OMIM:613458
Auriculocondylar Syndrome 2A
Feeding difficulties, Ptosis OMIM:614669
Developmental Delay, Impaired Speech, And Behavioral Abnormalities
Bifid scrotum, Synophrys, Deeply set eye, Vomiting, Otitis media, Micropenis, Juvenile cataract, ... OMIM:619475
2P15P16.1 Microdeletion Syndrome
Epicanthus, Telecanthus, Facial palsy, Optic nerve hypoplasia, Supernumerary nipple, Sparse eyebr... ORPHA:261349
Pelizaeus-Merzbacher Disease In Female Carriers
Deeply set eye, Neurogenic bladder, Hypertelorism ORPHA:280229
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3
Epicanthus, Macroorchidism, Short palpebral fissure, Precocious puberty, Feeding difficulties, Up... OMIM:619950
Distal Duplication 6P
Abnormal eyelash morphology, Cataract, Blepharophimosis, Ptosis ORPHA:1745
Monosomy 22Q13.3
Nausea and vomiting, Epicanthus, Palpebral edema, Recurrent skin infections, Feeding difficulties... ORPHA:48652
Ververi-Brady Syndrome
Ptosis, Hypertelorism, Feeding difficulties, Upslanted palpebral fissure, Intention tremor OMIM:617982
Congenital Disorder Of Glycosylation, Type Iif
Deeply set eye, Hypotelorism OMIM:603585
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2
Epicanthus, Feeding difficulties, Constipation, Downslanted palpebral fissures, Ptosis OMIM:616801
Pterygia, Impaired Intellectual Development, And Distinctive Craniofacial Features
Epicanthus, Hypospadias, Multiple pterygia, Hypoplastic nipples, Pterygium, Hypoplastic female ex... OMIM:177980
Charcot-Marie-Tooth Disease Type 4B2
Decreased distal sensory nerve action potential, Cataract, Tremor, Developmental glaucoma, Optic ... ORPHA:99956
Williams Syndrome
Hypoplasia of penis, Tremor, Rectal prolapse, Gastroesophageal reflux, Chronic otitis media, Mega... ORPHA:904
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type
Small scrotum, Cryptorchidism, Hypotelorism, Deeply set eye, Microphallus, Micropenis OMIM:300486
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 5
Nasal regurgitation, Dysphagia, Ptosis OMIM:618098
Persistent Hyperplastic Primary Vitreous
Cataract, Corneal opacity, Leukocoria, Developmental cataract, Microcornea, Buphthalmos, Shallow ... ORPHA:91495
Chromosome 8Q21.11 Deletion Syndrome
Epicanthus, Cataract, Sclerocornea, Hypertelorism, Cryptorchidism, Micropenis, Downslanted palpeb... OMIM:614230
Oculogastrointestinal Muscular Dystrophy
Abnormality of the gastrointestinal tract, Spontaneous esophageal perforation, Intestinal pseudo-... ORPHA:1876
Spastic Ataxia 5, Autosomal Recessive
Dystonia, Dysphagia, Ptosis OMIM:614487
Cornelia De Lange Syndrome 1
Synophrys, Microcornea, Gastroesophageal reflux, Otitis media, Hypospadias, Curly eyelashes, High... OMIM:122470
Alexander Disease
Nausea and vomiting, Facial palsy, Bowel incontinence, Tremor, Precocious puberty, Hypothyroidism... ORPHA:58
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Decreased nerve conduction velocity, Ptosis ORPHA:1933
Juberg-Hayward Syndrome
Abnormal eyebrow morphology, Hypospadias, Highly arched eyebrow, Hypertelorism, Ptosis ORPHA:2319
Geroderma Osteodysplasticum
Deeply set eye, Downslanted palpebral fissures, Periodontitis, Hypertelorism OMIM:231070
Congenital Disorder Of Glycosylation, Type Iio
Hepatic failure, Downslanted palpebral fissures, Ptosis OMIM:616828
Deafness, X-Linked 7
Telecanthus, Thick eyebrow, Ptosis OMIM:301018
Mosaic Trisomy 8
Corneal opacity, Hypertelorism, Cryptorchidism, Deeply set eye, Decreased testicular size ORPHA:96061
Neurodegeneration, Early-Onset, With Choreoathetoid Movements And Microcytic Anemia
Choreoathetosis, Dystonia, Feeding difficulties, Ptosis OMIM:618451
Mitochondrial Dna Depletion Syndrome 1 (Mngie Type)
Colonic diverticula, Intestinal pseudo-obstruction, Gastroparesis, Abdominal pain, Intestinal per... OMIM:603041
Chromosome 4Q32.1-Q32.2 Triplication Syndrome
Epicanthus, Aganglionic megacolon, Hydrocele testis, Narrow palpebral fissure, Constipation, Down... OMIM:613603
Combined Oxidative Phosphorylation Defect Type 7
Oral-pharyngeal dysphagia, Gastrostomy tube feeding in infancy, Optic atrophy, Paralytic ileus, F... ORPHA:254930
Chromosome 18P Deletion Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Gonadal dysgenesis, Dystonia, Micropenis, Decreased te... OMIM:146390
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome
Hypergonadotropic hypogonadism, Poor appetite, Diarrhea, Dysphagia, Nausea, Ptosis ORPHA:352447
Myasthenic Syndrome, Congenital, 24, Presynaptic
Feeding difficulties, Dysphagia, Ptosis OMIM:618198
Microcephaly-Capillary Malformation Syndrome
Hypertelorism, Optic atrophy, Ptosis OMIM:614261
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 3
Cataract, Hypogonadism, Dysphagia, Ptosis OMIM:609286
Cenani-Lenz Syndrome
Ptosis, Cataract, Hypertelorism, Hypothyroidism, Proptosis, Downslanted palpebral fissures, Ectro... ORPHA:3258
Trichohepatoneurodevelopmental Syndrome
Epicanthus, Ectropion, Hypertelorism, Almond-shaped palpebral fissure, Exocrine pancreatic insuff... OMIM:618268
Coffin-Siris Syndrome 3
Feeding difficulties, Long eyelashes, Poor suck, Thick eyebrow, Ptosis OMIM:614608
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Hypotelorism, Ptosis ORPHA:2511
Galloway-Mowat Syndrome 3
Epicanthus, Hypertelorism, Hiatus hernia, Deeply set eye, Downslanted palpebral fissures OMIM:617729
Alagille Syndrome 1
Cataract, Band keratopathy, Hypertelorism, Hepatic failure, Abnormal anterior chamber morphology,... OMIM:118450
Mitochondrial Dna-Related Progressive External Ophthalmoplegia
Hypothyroidism, Ptosis ORPHA:663
Pili Torti-Onychodysplasia Syndrome
Absent eyelashes, Absent eyebrow, Conjunctival hyperemia, Eczema ORPHA:2890
Jackson-Weiss Syndrome
Hypertelorism, Proptosis, Ptosis ORPHA:1540
Wiedemann-Rautenstrauch Syndrome
Hypotelorism, Deeply set eye, Hypoplasia of the thymus, Intention tremor, Absent eyebrow, Hypospa... OMIM:264090
Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome
Hypertelorism, Feeding difficulties, Upslanted palpebral fissure, Deeply set eye, Downslanted pal... ORPHA:412069
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome
Bifid scrotum, Hypertelorism, Cryptorchidism, Optic atrophy, Proptosis, Prominent scrotal raphe, ... ORPHA:1555
Glycine Encephalopathy With Normal Serum Glycine
Exaggerated startle response, Optic atrophy, Long eyelashes, Dysphagia, Ptosis OMIM:617301
Lymphedema-Hypoparathyroidism Syndrome
Hypoparathyroidism, Telecanthus, Cataract, Ptosis OMIM:247410
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 2
Bilateral ptosis, Dysphagia, Ptosis OMIM:616479
Diabetes And Deafness, Maternally Inherited
Ptosis OMIM:520000
Tyshchenko Syndrome
Supernumerary nipple, Cryptorchidism, Feeding difficulties, Proptosis, Ptosis OMIM:615102
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type
Epicanthus, Hypospadias, Cryptorchidism, Feeding difficulties, Upslanted palpebral fissure, Chron... OMIM:300260
Takenouchi-Kosaki Syndrome
Hypospadias, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Cryptorchidism, Synophrys, Opt... OMIM:616737
Proteus-Like Syndrome
Thymus hyperplasia, Cataract, Abnormal pupil morphology, Abnormality of the parathyroid gland, Po... ORPHA:2969
Ophthalmoplegia, External, With Rib And Vertebral Anomalies
Torticollis, Ptosis OMIM:618155
Early-Onset Spastic Ataxia-Myoclonic Epilepsy-Neuropathy Syndrome
Dystonia, Dysphagia, Ptosis ORPHA:313772
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Epicanthus, Gastrostomy tube feeding in infancy, Absent eyelashes, Feeding diffic... OMIM:115150
Carey-Fineman-Ziter Syndrome 1
Epicanthus, Cataract, Facial palsy, Lagophthalmos, Cryptorchidism, Bowel irritability, Feeding di... OMIM:254940
Rubinstein-Taybi Syndrome 1
Premature thelarche, Bilateral cryptorchidism, Feeding difficulties in infancy, Papillary cystade... OMIM:180849
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Deeply set eye, Cataract, Optic nerve hypoplasia, Peters anomaly OMIM:614643
Neonatal Marfan Syndrome
Iridodonesis, Ectopia lentis, Feeding difficulties, Deeply set eye, Megalocornea, Downslanted pal... ORPHA:284979
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Cataract, Ectopia lentis, Spherophakia, Anterior synechiae of the anterior chamber,... OMIM:601552
Leprosy
Absent eyebrow, Loss of eyelashes, Abnormality of the seventh cranial nerve, Testicular mass, Uve... ORPHA:548
Fetal Hydantoin Syndrome
Bifid scrotum, Epicanthus, Hypertelorism, Cryptorchidism, Ptosis ORPHA:1912
Distal 22Q11.2 Microduplication Syndrome
Epicanthus, Palpebral edema, Hypertelorism, Cryptorchidism, Optic disc coloboma, Upslanted palpeb... ORPHA:261337
Fibrosis Of Extraocular Muscles, Congenital, With Synergistic Divergence
Ptosis OMIM:609612
Shashi-Pena Syndrome
Epicanthus, Highly arched eyebrow, Hypertelorism, Feeding difficulties in infancy, Synophrys, Pro... OMIM:617190
Infantile Sialic Acid Storage Disease
Epicanthus, Ptosis OMIM:269920
Inhalational Botulism
Nausea and vomiting, Mydriasis, Diarrhea, Xerostomia, Constipation, Ptosis ORPHA:254504
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 4
Gastroparesis, Facial palsy, Constipation, Gastroesophageal reflux, Ptosis OMIM:610131
Ctcf-Related Neurodevelopmental Disorder
Epicanthus, Highly arched eyebrow, Phimosis, Hypertelorism, Cryptorchidism, Synophrys, Nasogastri... ORPHA:363611
Ogden Syndrome
Abnormal eyelid morphology, Deeply set eye, Vomiting, Hypertelorism, Sparse eyebrow, Cryptorchidi... OMIM:300855
Short Stature-Valvular Heart Disease-Characteristic Facies Syndrome
Ptosis ORPHA:2868
Coach Syndrome 1
Optic disc pallor, Hypertelorism, Esophageal varix, Dystonia, Ptosis OMIM:216360
3Q27.3 Microdeletion Syndrome
Deeply set eye, Downslanted palpebral fissures ORPHA:397695
Chromosome 1P36 Deletion Syndrome, Distal
Feeding difficulties in infancy, Synophrys, Deeply set eye, Gastroesophageal reflux, Hypothyroidi... OMIM:607872
Spinocerebellar Ataxia Type 36
Ptosis, Bowel incontinence, Hand tremor, Head tremor, Dysphagia, Intention tremor ORPHA:276198
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies
Hypoplasia of eyelid, Optic nerve hypoplasia, Intestinal malrotation, Optic atrophy, Deeply set e... OMIM:619321
20Q11.2 Microduplication Syndrome
Bifid scrotum, Epicanthus, Palpebral edema, Cryptorchidism, Proptosis, Abnormal shape of the palp... ORPHA:363659
Synaptic Congenital Myasthenic Syndromes
Facial palsy, Bilateral ptosis, Prolonged miniature endplate currents, Abnormal synaptic transmis... ORPHA:98915
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Papilledema, Premature thelarche, Abnormality of the orbital region, Polycystic ovaries, Arthriti... ORPHA:371428
Visceral Myopathy, Familial, With External Ophthalmoplegia
Spontaneous esophageal perforation, Gastroparesis, Abdominal pain, Abdominal distention, Malnutri... OMIM:277320
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Decreased response to growth hormone stimulation test, Cryptorchidism, Deeply set eye, Micropenis... OMIM:241410
Marden-Walker Syndrome
Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Pyloric stenosis, Zollinger-Ellison syndr... OMIM:248700
Oculofaciocardiodental Syndrome
Cataract, Intestinal malrotation, Highly arched eyebrow, Ectopia lentis, Feeding difficulties in ... ORPHA:2712
Autoimmune Disease, Multisystem, With Facial Dysmorphism
Gastrostomy tube feeding in infancy, Feeding difficulties in infancy, Hypertelorism, Chronic diar... OMIM:613385
Hereditary Sensory And Autonomic Neuropathy Type 5
Deeply set eye, Anhidrosis ORPHA:64752
Toxin-Mediated Infectious Botulism
Ptosis, Constipation, Dysphagia, Mydriasis ORPHA:230800
Multiple Pterygium Syndrome, Escobar Variant
Epicanthus, Hypospadias, Hypertelorism, Bilateral ptosis, Cryptorchidism, Absence of labia majora... OMIM:265000
Purpura Simplex
Ptosis OMIM:179000
Pettigrew Syndrome
Choreoathetosis, Deeply set eye, Optic atrophy OMIM:304340
Fallot Complex-Intellectual Disability-Growth Delay Syndrome
Unilateral ptosis, Hypertelorism, Cryptorchidism, Opisthotonus, Recurrent otitis media, Downslant... ORPHA:3304
Miller Fisher Syndrome
Ptosis, Facial palsy, Anisocoria, Vomiting, Dysphagia, Mydriasis ORPHA:98919
Orofaciodigital Syndrome V
Unilateral ptosis, Aganglionic megacolon, Unilateral cryptorchidism, Hypertelorism, Optic disc co... OMIM:174300
Acrofrontofacionasal Dysostosis 1
Iris atrophy, Long eyebrows, Hypertelorism, Optic atrophy, Long eyelashes, S-shaped palpebral fis... OMIM:201180
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome
Abnormality of the gastrointestinal tract, Cryptorchidism, Nasogastric tube feeding in infancy, G... ORPHA:453499
Galloway-Mowat Syndrome 1
Epicanthus, Cataract, Hiatus hernia, Hypertelorism, Optic atrophy, Feeding difficulties, Hypoplas... OMIM:251300
Blepharophimosis, Ptosis, And Epicanthus Inversus
Telecanthus, Highly arched eyebrow, Increased circulating gonadotropin level, Microcornea, Hypopl... OMIM:110100
Thrombocytopenia, Paris-Trousseau Type
Pyloric stenosis, Ptosis OMIM:188025
Bartsocas-Papas Syndrome 1
Cicatricial lagophthalmos, Bilateral cryptorchidism, Ankyloblepharon, Micropenis, Pterygium, Abse... OMIM:263650
Acro-Renal-Ocular Syndrome
Epicanthus, Cataract, Aganglionic megacolon, Hypertelorism, Optic disc coloboma, Microcornea, Iri... ORPHA:959
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Telecanthus, Highly arched eyebrow, Absent eyelashes, Thick eyebrow, Ptosis ORPHA:228396
6-Pyruvoyl-Tetrahydropterin Synthase Deficiency
Oculogyric crisis, Dysphagia, Opisthotonus, Choreoathetosis, Dystonia, Ptosis ORPHA:13
Axial Spondylometaphyseal Dysplasia
Cataract, Optic atrophy, Ptosis ORPHA:168549
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Proptosis, Hypospadias, Ptosis ORPHA:2522
Trisomy 17P
Hypoplasia of penis, Cataract, Hypertelorism, Downslanted palpebral fissures, Broad eyebrow, Ptosis ORPHA:261290
Fetal Akinesia Deformation Sequence
Intestinal hypoplasia, Cryptorchidism, Pterygium, Hypertelorism ORPHA:994
Blau Syndrome
Nongranulomatous uveitis, Pericarditis, Cataract, Eczema, Band keratopathy, Erythema nodosum, Uve... OMIM:186580
Dubowitz Syndrome
Epicanthus, Telecanthus, Hypospadias, Eczema, Feeding difficulties in infancy, Cryptorchidism, Ch... OMIM:223370
Porphyria, Congenital Erythropoietic
Absent eyebrow, Loss of eyelashes, Corneal scarring, Conjunctivitis, Cholelithiasis OMIM:263700
Proteasome-Associated Autoinflammatory Syndrome 1
Episcleritis, Erythema nodosum, Epididymitis, Punctate opacification of the cornea, Chronic const... OMIM:256040
Non-Functioning Pituitary Adenoma
Decreased response to growth hormone stimulation test, Reduced circulating prolactin concentratio... ORPHA:91349
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27
Ptosis OMIM:619566
Myasthenic Syndrome, Congenital, 19
Feeding difficulties, Gastroesophageal reflux, Facial palsy, Ptosis OMIM:616720
Joubert Syndrome 35
Telecanthus, Synophrys, Highly arched eyebrow, Ptosis OMIM:618161
22Q11.2 Duplication Syndrome
Epicanthus, Hypertelorism, Displacement of the urethral meatus, Downslanted palpebral fissures, P... ORPHA:1727
Koolen-De Vries Syndrome
Epicanthus, Cataract, Hypospadias, Feeding difficulties in infancy, Cryptorchidism, Pyloric steno... ORPHA:96169
Autosomal Dominant Hyper-Ige Syndrome
Osteomyelitis, Skin rash, Eczema, Deeply set eye, Chronic otitis media ORPHA:2314
Wagro Syndrome
Decreased testicular size, Cataract, Corneal opacity, Aniridia, Downslanted palpebral fissures, H... OMIM:612469
Xeroderma Pigmentosum
Conjunctival telangiectasia, Cataract, Entropion, Keratitis, Cryptorchidism, Optic atrophy, Ankyl... ORPHA:910
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy
Ptosis OMIM:619972
African Trypanosomiasis
Papilledema, Pericarditis, Keratitis, Tremor, Myocarditis, Diarrhea, Choreoathetosis, Abnormal pr... ORPHA:3385
Developmental And Epileptic Encephalopathy 18
Downslanted palpebral fissures, Highly arched eyebrow, Ptosis OMIM:615476
Caroli Disease
Cholangiocarcinoma, Cholangitis, Anorexia, Abdominal pain, Conjunctival icterus, Esophageal varix... ORPHA:53035
22Q11.2 Deletion Syndrome
Abnormal eyelid morphology, Feeding difficulties in infancy, Anorectal anomaly, Hypoplasia of the... ORPHA:567
Oculoectodermal Syndrome
Epicanthus, Supernumerary nipple, Pineal cyst, Microcornea, Eyelid coloboma, Astigmatism, Proptos... OMIM:600268
Lichen Planopilaris
Pterygium, Abnormal intestine morphology, Hepatitis ORPHA:525
Congenital Myopathy 22B, Severe Fetal
Synophrys, Deeply set eye, Proptosis, Tube feeding, Downslanted palpebral fissures OMIM:620369
Combined Oxidative Phosphorylation Deficiency 24
Feeding difficulties, Optic atrophy, Ptosis OMIM:616239
Arthrogryposis Multiplex Congenita 1, Neurogenic, With Myelin Defect
Ptosis OMIM:617468
2Q31.1 Microdeletion Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Synophrys, Optic disc coloboma, Proptosis, Downslanted... ORPHA:251014
Intellectual Disability-Developmental Delay-Contractures Syndrome
Ptosis ORPHA:3454
Onychotrichodysplasia And Neutropenia
Chronic irritative conjunctivitis, Short eyelashes, Curly eyelashes OMIM:258360
9Q21.13 Microdeletion Syndrome
Long palpebral fissure, Cryptorchidism, Gastrointestinal dysmotility, Ptosis ORPHA:531151
Monosomy 18P
Epicanthus, Generalized dystonia, Hypothyroidism, Ptosis ORPHA:1598
Prolidase Deficiency
Eczema, Hypertelorism, Recurrent pneumonia, Crusting erythematous dermatitis, Proptosis, Ptosis OMIM:170100
Aphonia-Deafness-Retinal Dystrophy-Bifid Halluces-Intellectual Disability Syndrome
Bifid scrotum, Small scrotum, Bilateral ptosis, Hypoplastic labia minora, Optic atrophy, Feeding ... ORPHA:324540
Frontofacionasal Dysplasia
Telecanthus, Cataract, Hypertelorism, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped pal... OMIM:229400
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome
Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Epicanthus inversus, Ptosis ORPHA:2988
Non-Distal Deletion 10Q
Upslanted palpebral fissure, Ptosis, Epicanthus, Synophrys ORPHA:1581
Hydrolethalus
Cryptorchidism, Deeply set eye, Abnormal fallopian tube morphology ORPHA:2189
15Q14 Microdeletion Syndrome
Deeply set eye, Acne ORPHA:261190
Progeroid Short Stature With Pigmented Nevi
Cataract, Hypospadias, Allergic rhinitis, Allergic conjunctivitis, Chordee, Vomiting, Esophageal ... OMIM:176690
Zttk Syndrome
Absent gallbladder, Epicanthus, Sparse eyebrow, Feeding difficulties in infancy, Chronic diarrhea... OMIM:617140
Inclusion Body Myopathy And Brain White Matter Abnormalities
Ptosis OMIM:619733
Conductive Deafness-Ptosis-Skeletal Anomalies Syndrome
Blepharophimosis, Epicanthus, Ptosis ORPHA:3236
Basel-Vanagaite-Smirin-Yosef Syndrome
Epicanthus, Hypospadias, Hypertelorism, Sparse eyebrow, Recurrent pneumonia, Developmental catara... ORPHA:464738
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 6
Ptosis OMIM:615156
Encephalocraniocutaneous Lipomatosis
Sclerocornea, Cryptorchidism, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid OMIM:613001
Ophthalmoplegia, Familial Total, With Iris Transillumination
Ptosis OMIM:165098
Cardiac Valvular Dysplasia, X-Linked
Hypertelorism, Ptosis OMIM:314400
Stormorken-Sjaastad-Langslet Syndrome
Deeply set eye ORPHA:3204
Pde4D Haploinsufficiency Syndrome
Hypospadias, Hypertelorism, Cryptorchidism, Hypotelorism, Narrow palpebral fissure, Long palpebra... ORPHA:439822
Cardiofaciocutaneous Syndrome
Abnormality of the gastrointestinal tract, Epicanthus, Hypertelorism, Abnormal eyelash morphology... ORPHA:1340
Orthostatic Hypotension 1
Orthostatic hypotension, Reduced circulating prolactin concentration, Ptosis OMIM:223360
Mitochondrial Complex Iii Deficiency, Nuclear Type 8
Optic disc pallor, Ptosis OMIM:615838
Neurodegeneration, Childhood-Onset, Stress-Induced, With Variable Ataxia And Seizures
Intention tremor, Ptosis OMIM:618170
Crimean-Congo Hemorrhagic Fever
Nausea and vomiting, Acute pancreatitis, Anorexia, Abdominal pain, Erythema nodosum, Myocarditis,... ORPHA:99827
Aarskog-Scott Syndrome
Testicular atrophy, Elevated circulating luteinizing hormone level, Hypertelorism, Bilateral cryp... OMIM:305400
Teebi Hypertelorism Syndrome 1
Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Upslanted palpebral fissure, Hydrocele te... OMIM:145420
Scarf Syndrome
Bifid scrotum, Epicanthus, Cryptorchidism, Hepatocellular adenoma, Perineal hypospadias, Hypoplas... ORPHA:3134
Retinal Dystrophy With Leukodystrophy
Truncal titubation, Bilateral ptosis, Hypotelorism OMIM:618863
Ohdo Syndrome, X-Linked
Epicanthus, Small scrotum, Hiatus hernia, Sparse eyebrow, Cryptorchidism, Hypertelorism, Feeding ... OMIM:300895
Beare-Stevenson Cutis Gyrata Syndrome
Bifid scrotum, Hypospadias, Hypertelorism, Feeding difficulties in infancy, Optic atrophy, Hypopl... OMIM:123790
Lateral Meningocele Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Proptosis, Downslanted palpebral fissures, Iris colobo... ORPHA:2789
Cree Mental Retardation Syndrome
Bifid scrotum, Hypospadias, Hypertelorism, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:606851
3Mc Syndrome 1
Conjunctival telangiectasia, Telecanthus, Highly arched eyebrow, Supernumerary nipple, Hypertelor... OMIM:257920
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2
Ptosis, Epicanthus, Lacrimal duct stenosis, Optic nerve hypoplasia, Highly arched eyebrow, Hypert... OMIM:617506
Malignant Atrophic Papulosis
Nausea and vomiting, Intestinal fistula, Gastrointestinal hemorrhage, Cataract, Abdominal pain, I... ORPHA:679
Char Syndrome
Hypertelorism, Downslanted palpebral fissures, Supernumerary nipple, Ptosis ORPHA:46627
Branchio-Oculo-Facial Syndrome
Cataract, Nasolacrimal duct obstruction, Microcornea, Upslanted palpebral fissure, Iris coloboma,... ORPHA:1297
Intellectual Developmental Disorder, Autosomal Dominant 57
Epicanthus, Telecanthus, Hypertelorism, Diarrhea, Feeding difficulties, Upslanted palpebral fissu... OMIM:618050
Fanconi Anemia
Abnormal eyelid morphology, Abnormality of the uterus, Hypospadias, Hypertelorism, Cryptorchidism... ORPHA:84
Microcephalic Primordial Dwarfism, Montreal Type
Cryptorchidism, Ptosis OMIM:210700
Autosomal Dominant Progressive External Ophthalmoplegia
Resting tremor, Cataract, Gastroparesis, Facial palsy, Hyperthyroidism, Tremor, Goiter, Facial di... ORPHA:254892
Wound Botulism
Ptosis, Constipation, Dysphagia, Mydriasis ORPHA:178475
Genitourinary And/Or Brain Malformation Syndrome
Epicanthus, Clitoral hypertrophy, Streak ovary, Hypospadias, Ileal atresia, Jejunal atresia, Hype... OMIM:618820
Acrofacial Dysostosis Syndrome Of Rodriguez
Deeply set eye, Hypertelorism OMIM:201170
Dehydrated Hereditary Stomatocytosis 1 With Or Without Pseudohyperkalemia And/Or Perinatal Edema
Conjunctival icterus, Cholelithiasis, Hepatitis OMIM:194380
Bickerstaff Brainstem Encephalitis
Decreased motor nerve conduction velocity, Ptosis, Facial palsy, Pneumonia, Abnormal cranial nerv... ORPHA:79138
Pontine Tegmental Cap Dysplasia
Facial palsy, Head titubation, Feeding difficulties, Dysphagia, Ptosis OMIM:614688
Meckel Syndrome, Type 10
Epicanthus, Hypospadias, Narrow palpebral fissure, Micropenis, Ptosis OMIM:614175
Codas Syndrome
Epicanthus, Cataract, Ptosis ORPHA:1458
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities
Facial diplegia, Conjunctival hyperemia, Highly arched eyebrow OMIM:619121
Cardiofaciocutaneous Syndrome 2
Absent eyebrow, Ptosis OMIM:615278
Frontorhiny
Epicanthus, Cataract, Hypertelorism, Hypopituitarism, Iris coloboma, Ptosis ORPHA:391474
1P21.3 Microdeletion Syndrome
Upslanted palpebral fissure, Deeply set eye, Astigmatism ORPHA:293948
Paraplegia-Intellectual Disability-Hyperkeratosis Syndrome
Astigmatism, Ptosis ORPHA:2824
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects
Laterally extended eyebrow, Hooded eyelid, Highly arched eyebrow, Feeding difficulties in infancy... OMIM:610759
Brown-Vialetto-Van Laere Syndrome 1
Cranial nerve motor loss, Facial palsy, Dysphagia, Ptosis OMIM:211530
Mental Retardation With Optic Atrophy, Facial Dysmorphism, Microcephaly, And Short Stature
Hypertelorism, Optic atrophy, Ptosis OMIM:609037
Wiedemann-Rautenstrauch Syndrome
Decreased response to growth hormone stimulation test, Tremor, Synophrys, Wide penis, Deeply set ... ORPHA:3455
Developmental And Epileptic Encephalopathy 110
Feeding difficulties, Ptosis OMIM:620149
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 1
Hypertelorism, Feeding difficulties, Upslanted palpebral fissure, Recurrent otitis media, Hepatic... OMIM:619758
Saethre-Chotzen Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Optic atrophy, Hypotelorism, Blepharospasm, Ptosis ORPHA:794
Non-Progressive Predominantly Posterior Cavitating Leukoencephalopathy With Peripheral Neuropathy
Optic atrophy, Fatigable weakness of swallowing muscles, Vomiting, Decreased liver function, Ptosis ORPHA:436271
Koolen-De Vries Syndrome
Epicanthus, Cataract, Iris hypopigmentation, Eczema, Feeding difficulties in infancy, Cryptorchid... OMIM:610443
Neurodevelopmental Disorder With Poor Growth, Large Ears, And Dysmorphic Facies
Deeply set eye, Feeding difficulties OMIM:620194
Tall Stature-Intellectual Disability-Renal Anomalies Syndrome
Epicanthus, Cataract, Hypertelorism, Deeply set eye, Astigmatism, Long palpebral fissure, Downsla... ORPHA:500095
Joubert Syndrome With Hepatic Defect
Highly arched eyebrow, Tremor, Feeding difficulties in infancy, Optic disc coloboma, Neoplasm of ... ORPHA:1454
Giant Cell Arteritis
Pericarditis, Anorexia, Abdominal pain, Optic atrophy, Hyperhidrosis, Arthritis, Gastrointestinal... ORPHA:397
Witteveen-Kolk Syndrome
Decreased response to growth hormone stimulation test, Feeding difficulties in infancy, Anisocori... OMIM:613406
Beck-Fahrner Syndrome
Feeding difficulties in infancy, Lacrimal duct stenosis, Ptosis OMIM:618798
Fountain Syndrome
Epicanthus, Hypertelorism, Synophrys, Thick eyebrow, Ptosis ORPHA:3219
Craniosynostosis 6
Hypertelorism, Ptosis OMIM:616602
Norrie Disease
Aplasia/Hypoplasia of the lens, Corneal opacity, Cataract, Sclerocornea, Ectopia lentis, Abnormal... ORPHA:649
Reni Syndrome
Cryptorchidism, Hypogonadism, Adrenal insufficiency, Micropenis, Hypothyroidism, Ptosis OMIM:617575
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome
Gastroparesis, Cataract, Intestinal pseudo-obstruction, Ptosis ORPHA:70595
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Decreased response to growth hormone stimulation test, Synophrys, Hypotelorism, Deeply set eye, C... OMIM:619503
Polymicrogyria With Or Without Vascular-Type Ehlers-Danlos Syndrome
Upslanted palpebral fissure, Deeply set eye OMIM:618343
Caroli Syndrome
Cholangiocarcinoma, Cholangitis, Abdominal pain, Hematemesis, Conjunctival icterus, Esophageal va... ORPHA:480520
Blepharophimosis With Facial And Genital Anomalies And Impaired Intellectual Development
Telecanthus, Hypospadias, Supernumerary nipple, Feeding difficulties in infancy, Glandular hyposp... OMIM:604314
Cholera
Achlorhydria, Abdominal pain, Diarrhea, Deeply set eye, Abdominal cramps, Vomiting, Aspiration pn... ORPHA:173
Joubert Syndrome 3
Epicanthus, Highly arched eyebrow, Ptosis OMIM:608629
Muenke Syndrome
Hypertelorism, Proptosis, Ptosis ORPHA:53271
Marcus-Gunn Syndrome
Unilateral ptosis, Abnormal fifth cranial nerve morphology ORPHA:91412
Weiss-Kruszka Syndrome
Epicanthus, Highly arched eyebrow, Feeding difficulties, Downslanted palpebral fissures, Ptosis OMIM:618619
Mucopolysaccharidosis, Type Ii
Papilledema, Intestinal pseudo-obstruction, Diarrhea, Recurrent pneumonia, Recurrent otitis media... OMIM:309900
Camptodactyly Syndrome, Guadalajara, Type Iii
Torticollis, Telecanthus, Symblepharon, Hypertelorism, Micropenis OMIM:611929
Cerebrooculonasal Syndrome
Epicanthus, Sparse eyelashes, Optic nerve hypoplasia, Hypertelorism, Sparse eyebrow, Hypoplastic ... OMIM:605627
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, Ectropion of lower eyelids, Pineal cyst, E... OMIM:615873
Congenital Myasthenic Syndrome
Ptosis, Nasal regurgitation, Feeding difficulties, Fatigable weakness, Gastroesophageal reflux, D... ORPHA:590
Presynaptic Congenital Myasthenic Syndromes
Ptosis, Nasal regurgitation, Feeding difficulties, Fatigable weakness, Gastroesophageal reflux, D... ORPHA:98914
8Q24.3 Microdeletion Syndrome
Gastrointestinal hemorrhage, Epicanthus, Ectopic posterior pituitary, Optic nerve hypoplasia, Hig... ORPHA:508488
Leigh Syndrome
Cataract, Eczema, Gastrointestinal dysmotility, Optic atrophy, Dysphagia, Feeding difficulties, C... ORPHA:506
Distal 22Q11.2 Microdeletion Syndrome
Bowel incontinence, Highly arched eyebrow, Pyloric stenosis, Deeply set eye, Blepharophimosis ORPHA:261330
Coach Syndrome 3
Ptosis OMIM:619113
Cone-Rod Dystrophy 10
Epiphora, Attenuation of retinal blood vessels OMIM:610283
Phace Syndrome
Cataract, Optic nerve hypoplasia, Sclerocornea, Hypothyroidism, Lens coloboma, Abnormality of the... ORPHA:42775
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2
Epicanthus, Deeply set eye, Vomiting, Tube feeding, Exocrine pancreatic insufficiency OMIM:619418
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion
Ptosis, Telecanthus, Feeding difficulties in infancy, Recurrent pneumonia, Aspiration pneumonia, ... ORPHA:314655
Smith-Lemli-Opitz Syndrome
Epicanthus, Cataract, Aganglionic megacolon, Hypoplasia of penis, Sclerocornea, Hypospadias, Abno... ORPHA:818
Neurofaciodigitorenal Syndrome
Epicanthus, Corneal dystrophy, Hypertelorism, Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:2673
Dubowitz Syndrome
Hypoparathyroidism, Ptosis, Epicanthus, Cataract, Telecanthus, Eczema, Hypospadias, Malabsorption... ORPHA:235
Autosomal Recessive Axonal Charcot-Marie-Tooth Disease Due To Copper Metabolism Defect
Facial diplegia, Ptosis ORPHA:521411
Congenital Myopathy 5 With Cardiomyopathy
Ptosis OMIM:611705
Spinocerebellar Ataxia 47
Ptosis OMIM:617931
Jacobsen Syndrome
Epicanthus, Cataract, Ectropion, Eczema, Intestinal malrotation, Hypertelorism, Feeding difficult... ORPHA:2308
Neu-Laxova Syndrome
Cataract, Abnormal nasolacrimal system morphology, External genital hypoplasia, Abnormal eyelid m... ORPHA:2671
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Epicanthus, Eczema, Seborrheic dermatitis, Hypertelorism, Astigmatism, Constipation, Abnormality ... ORPHA:369950
Cone-Rod Dystrophy 8
Retinal arteriolar constriction, Epiphora OMIM:605549
Van Maldergem Syndrome 2
Bifid scrotum, Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Feeding difficulties, Narr... OMIM:615546
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Epicanthus, Cataract, Sutural cataract, Highly arched eyebrow, Hypertelorism, Tremor, Synophrys, ... OMIM:612474
Joubert Syndrome 30
Ptosis OMIM:617622
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects
Unilateral ptosis, Highly arched eyebrow, Synophrys, Hypotelorism, Upslanted palpebral fissure, D... OMIM:301044
Wiedemann-Steiner Syndrome
Epicanthus, Telecanthus, Thick eyebrow, Decreased response to growth hormone stimulation test, Hy... ORPHA:319182
Myhre Syndrome
Cataract, Hypertelorism, Cryptorchidism, Narrow palpebral fissure, Deeply set eye, Blepharophimos... OMIM:139210
Refsum Disease, Classic
Cataract, Ptosis OMIM:266500
Distal Deletion 3P
Epicanthus, Telecanthus, Hypertelorism, Cryptorchidism, Blepharophimosis, Abnormal vestibulo-ocul... ORPHA:1620
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Epicanthus, Decreased response to growth hormone stimulation test, Highly arched eyebrow, Supernu... OMIM:213980
X-Linked Mandibulofacial Dysostosis
Epicanthus, Cryptorchidism, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Pt... ORPHA:1131
Carey-Fineman-Ziter Syndrome
Epicanthus, Facial palsy, Glandular hypospadias, Downslanted palpebral fissures, Ptosis ORPHA:1358
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Ptosis ORPHA:2064
3Mc Syndrome 2
Torticollis, Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Blepharophimosis,... OMIM:265050
Robinow-Sorauf Syndrome
Bilateral ptosis, Hypertelorism, Downslanted palpebral fissures, Shallow orbits OMIM:180750
Mesomelia-Synostoses Syndrome
Abnormal eyebrow morphology, Telecanthus, Downslanted palpebral fissures, Ptosis ORPHA:2496
Trichorhinophalangeal Syndrome, Type Ii
Chronic gastritis, Bilateral cryptorchidism, Recurrent pneumonia, Hydrometrocolpos, Hyperhidrosis... OMIM:150230
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence
Telecanthus, Hypospadias, Hypertelorism, Cryptorchidism, Blepharophimosis, Short palpebral fissur... OMIM:217980
Myasthenia Gravis
Myositis, Hyperthyroidism, Primary adrenal insufficiency, Hepatitis, Rheumatoid arthritis, Dyspha... ORPHA:589
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy
Tremor, Facial palsy, Ptosis OMIM:619424
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Bifid scrotum, Abnormal pupil morphology, Microcornea, Deeply set eye, Webbed penis, Micropenis, ... ORPHA:261552
Nail-Patella Syndrome
Keratoconus, Ptosis, Cataract, Glomerulonephritis, Antecubital pterygium, Microcornea, Microphaki... OMIM:161200
Noonan Syndrome 10
Epicanthus, Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Cryptorchidism, Downsl... OMIM:616564
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Deeply set eye, Breast aplasia, Elevated circulat... ORPHA:3044
Mitochondrial Complex Iv Deficiency, Nuclear Type 3
Feeding difficulties in infancy, Ptosis OMIM:619046
14Q22Q23 Microdeletion Syndrome
Optic nerve aplasia, Epicanthus, Small scrotum, Anterior pituitary hypoplasia, Hypertelorism, Cry... ORPHA:264200
Intellectual Developmental Disorder, X-Linked, Syndromic, With Pigmentary Mosaicism And Coarse Facies
Epicanthus, Hypertelorism, Precocious puberty, Synophrys, Myopic astigmatism, Chronic constipatio... OMIM:301066
Arachnoid Cyst
Ptosis, Facial palsy, Poor appetite, Abdominal pain, Abnormal large intestine physiology, Cranial... ORPHA:2356
Myopathy, Myofibrillar, 8
Dysphagia, Ptosis OMIM:617258
Acromelic Frontonasal Dysplasia
Telecanthus, Anterior pituitary hypoplasia, Hypertelorism, Cryptorchidism, Hypopituitarism, Ptosis ORPHA:1827
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Decreased response to growth hormone stimulation test, Highly arched eyebrow, Hypoplasia of the u... OMIM:615866
Pituitary Apoplexy
Nausea and vomiting, Ptosis, Hypergonadotropic hypogonadism, Decreased response to growth hormone... ORPHA:95613
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant
Acne, Seborrheic dermatitis, Secretory diarrhea, Hyperhidrosis, Ptosis OMIM:167100
Lathosterolosis
Epicanthus, Cataract, Hypoplasia of penis, Microcornea, Opacification of the corneal stroma, Hepa... ORPHA:46059
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency
Acute hepatic failure, Cholangitis, Gastrostomy tube feeding in infancy, Hepatitis, Thyroiditis, ... ORPHA:228426
Gabriele-De Vries Syndrome
Telecanthus, Sparse eyebrow, Epiblepharon, Tremor, Cryptorchidism, Feeding difficulties, Dystonia... OMIM:617557
Chilton-Okur-Chung Neurodevelopmental Syndrome
Septo-optic dysplasia, Hooded eyelid, Anterior pituitary hypoplasia, Synophrys, Episodic vomiting... OMIM:619841
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Epicanthus, Gastroparesis, Optic nerve hypoplasia, Sparse eyebrow, Feeding di... ORPHA:500150
Wolf-Hirschhorn Syndrome
Epicanthus, Hypospadias, Sclerocornea, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Opti... ORPHA:280
Dopamine Beta-Hydroxylase Deficiency
Orthostatic hypotension, Bilateral ptosis, Diarrhea, Rhinitis, Vomiting ORPHA:230
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Bifid scrotum, Abnormal penis morphology, Hypospadias, Hypertelorism, Epispadias, Eyelid coloboma... ORPHA:2211
Smith-Lemli-Opitz Syndrome
Bifid scrotum, Small scrotum, Gastrointestinal dysmotility, Vomiting, Gastroesophageal reflux, Mi... OMIM:270400
Leukocyte Adhesion Deficiency
Sinusitis, Severe periodontitis, Pneumonia, Osteomyelitis, Recurrent skin infections, Perianal ab... ORPHA:2968
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Ptosis OMIM:616549
Pachydermoperiostosis
Gastrointestinal hemorrhage, Osteomyelitis, Acne, Peptic ulcer, Elevated circulating growth hormo... ORPHA:2796
Skin Creases, Congenital Symmetric Circumferential, 2
Epicanthus, Small scrotum, Hypospadias, Hypertelorism, Cryptorchidism, Synophrys, Microcornea, Up... OMIM:616734
Kallmann Syndrome
Hypoplasia of penis, Hypogonadotropic hypogonadism, Tremor, Cryptorchidism, Breast hypoplasia, Mi... ORPHA:478
Rapp-Hodgkin Syndrome
Absent lacrimal punctum, Sparse eyelashes, Hypospadias, Supernumerary nipple, Sparse eyebrow, Hyp... OMIM:129400
Distal 17P13.1 Microdeletion Syndrome
Deeply set eye ORPHA:319171
Good Syndrome
Sinusitis, Recurrent skin infections, Diarrhea, Bronchiectasis, Fatigable weakness, Dysphagia, Pt... ORPHA:169105
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Bifid scrotum, Deeply set eye, Webbed penis, Micropenis, Iris coloboma, Hypospadias, Septate vagi... ORPHA:261537
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1
Conjunctival whitish salt-like deposits OMIM:211900
Mowat-Wilson Syndrome
Bifid scrotum, Gastrointestinal dysmotility, Deeply set eye, Vomiting, Webbed penis, Micropenis, ... ORPHA:2152
Thauvin-Robinet-Faivre Syndrome
Epicanthus, Hypertelorism, Deeply set eye, Long palpebral fissure, Downslanted palpebral fissures OMIM:617107
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome
Deeply set eye, Recurrent pneumonia, Proptosis, Opisthotonus ORPHA:508533
Acromelic Frontonasal Dysostosis
Telecanthus, Optic nerve hypoplasia, Hypertelorism, Cryptorchidism, Hypopituitarism, Downslanted ... OMIM:603671
Polyvalvular Heart Disease Syndrome
Ptosis ORPHA:228410
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Ruvalcaba Syndrome
Cryptorchidism, Downslanted palpebral fissures, Ptosis ORPHA:3121
Chromosome 17P13.1 Deletion Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Synophrys, Feeding difficulties, Hydrocele testis... OMIM:613776
Mitochondrial Myopathy, Episodic, With Or Without Optic Atrophy And Reversible Leukoencephalopathy
Hypothyroidism, Optic atrophy, Ptosis OMIM:251900
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Multiple pterygia, Antecubital pterygium, Popliteal pterygium, Downslanted palpebral fissures, Pt... OMIM:178110
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Congenital bilateral ptosis, Hypogonadism, Ptosis ORPHA:73272
Arthrogryposis, Distal, Type 1A
Cryptorchidism, Ptosis OMIM:108120
Lateral Meningocele Syndrome
Telecanthus, Neurogenic bladder, Hypertelorism, Cryptorchidism, Downslanted palpebral fissures, P... OMIM:130720
Intellectual Developmental Disorder, Autosomal Dominant 38
Deeply set eye, Epicanthus, Downslanted palpebral fissures OMIM:616393
Autosomal Dominant Centronuclear Myopathy
Cryptorchidism, Pyloric stenosis, Ptosis ORPHA:169189
Developmental And Epileptic Encephalopathy 2
Deeply set eye, Constipation, Gastroesophageal reflux OMIM:300672
Xia-Gibbs Syndrome
Upslanted palpebral fissure, Hypertelorism, Downslanted palpebral fissures, Ptosis OMIM:615829
Noonan Syndrome-Like Disorder With Loose Anagen Hair 1
Epicanthus, Eczema, Hypertelorism, Cryptorchidism, Feeding difficulties, Astigmatism, Long eyelas... OMIM:607721
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pterygium, Cataract OMIM:224410
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Small scrotum, Cryptorchidism, Recurrent otitis media, Blepharophimosis, Ptosis ORPHA:2728
Joubert Syndrome 8
Optic disc pallor, Ptosis OMIM:612291
Juvenile Xanthogranuloma
Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Blepharitis ORPHA:158000
Marfan Syndrome
Cataract, Ectopia lentis, Microspherophakia, Premature osteoarthritis, Hypoplasia of the iris, De... OMIM:154700
Autosomal Recessive Omodysplasia
Cryptorchidism, Pterygium ORPHA:93329
Combined Oxidative Phosphorylation Deficiency 33
Astigmatism, Hypothyroidism, Ptosis OMIM:617713
Hypoparathyroidism, Sensorineural Deafness, And Renal Dysplasia Syndrome
Hypoparathyroidism, Septate vagina, Uterus didelphys, Aplasia of the vagina, Pseudopapilledema, A... OMIM:146255
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Gastroparesis, Optic nerve hypoplasia, Supernumerary nipple, Intestinal pseudo-obstruction, Feedi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Gastroparesis, Optic nerve hypoplasia, Supernumerary nipple, Intestinal pseudo-obstruction, Feedi... ORPHA:352665
Gabriele-De Vries Syndrome
Telecanthus, Lacrimal duct stenosis, Decreased response to growth hormone stimulation test, Oral-... ORPHA:506358
Microcephaly, Developmental Delay, And Brittle Hair Syndrome
Hypospadias, Feeding difficulties in infancy, Deeply set eye, Chordee, Dystonia OMIM:618891
Dworschak-Punetha Neurodevelopmental Syndrome
Ptosis, Sparse lateral eyebrow OMIM:619955
Multiple Pterygium-Malignant Hyperthermia Syndrome
Small scrotum, Cryptorchidism, Hypotelorism, Proptosis, Downslanted palpebral fissures, Ptosis ORPHA:2215
Aymé-Gripp Syndrome
Pericarditis, Cataract, Hypertelorism, Bilateral ptosis, Cryptorchidism, Developmental cataract, ... ORPHA:1272
Nager Syndrome
Sparse lower eyelashes, Lower eyelid coloboma, Downslanted palpebral fissures, Aplasia/Hypoplasia... ORPHA:245
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia
Diarrhea, Vomiting, Ptosis OMIM:560000
Epidermolysis Bullosa, Junctional 2C, Laryngoonychocutaneous
Corneal pterygium, Symblepharon OMIM:245660
Phaver Syndrome
Epicanthus, Pterygium, Downslanted palpebral fissures ORPHA:2876
Prolactinoma
Nausea and vomiting, Hypogonadotropic hypogonadism, Female hypogonadism, Elevated circulating gro... ORPHA:2965
Ehlers-Danlos Syndrome, Classic-Like, 2
Cryptorchidism, Bilateral ptosis, Osteoarthritis, Thin eyebrow, Ptosis OMIM:618000
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis
Hypertelorism, Oligozoospermia, Deeply set eye, Clitoral hypoplasia, Breast hypoplasia OMIM:614813
Joubert Syndrome 7
Ptosis OMIM:611560
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cryptorchidism, Pterygium, Proptosis, Developmental cataract ORPHA:1865
Shprintzen-Goldberg Craniosynostosis Syndrome
Telecanthus, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, Proptosis, Gastroeso... OMIM:182212
Dyskeratosis Congenita, Autosomal Dominant 3
Cryptorchidism, Epiphora OMIM:613990
Cirrhotic Cardiomyopathy
Conjunctival icterus ORPHA:57777
Scarf Syndrome
Bifid scrotum, Epicanthus, Cryptorchidism, Perineal hypospadias, Hypoplastic nipples, Micropenis,... OMIM:312830
Van Maldergem Syndrome 1
Epicanthus, Hypospadias, Hypertelorism, Feeding difficulties, Blepharophimosis, Short palpebral f... OMIM:601390
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome
Proptosis, Ptosis ORPHA:1323
Stormorken Syndrome
Deeply set eye, Hypotelorism OMIM:185070
Epidermolysis Bullosa Simplex With Muscular Dystrophy
Fatigable weakness, Ptosis ORPHA:257
Kindler Syndrome
Esophageal stenosis, Symblepharon, Phimosis, Corneal erosion, Periodontitis, Dysphagia OMIM:173650
Short Stature And Facioauriculothoracic Malformations
Ptosis OMIM:609654
Refsum Disease
Cataract, Ptosis ORPHA:773
Thrombocytopenia 6
Deeply set eye, Hypotelorism OMIM:616937
Tetrasomy 9P
Absent gallbladder, Epicanthus, Pericarditis, Myositis, Hypertelorism, Cryptorchidism, Oligozoosp... ORPHA:3310
Midface Hypoplasia, Obesity, Developmental Delay, And Neonatal Hypotonia
Epicanthus, Long eyelashes, Broad lateral eyebrow, Ptosis OMIM:608624
Myhre Syndrome
Abnormal penis morphology, Cataract, Hypospadias, External genital hypoplasia, Precocious puberty... ORPHA:2588
Vici Syndrome
Epicanthus, Cataract, Hypertelorism, Ocular albinism, Chronic mucocutaneous candidiasis, Developm... OMIM:242840
Dyskeratosis Congenita, Autosomal Recessive 6
Epiphora OMIM:616353
Arthrogryposis, Distal, Type 3
Cryptorchidism, Epicanthus, Ptosis OMIM:114300
Bruck Syndrome
Pterygium ORPHA:2771
Erdheim-Chester Disease
Nausea and vomiting, Osteomyelitis, Skin rash, Hypogonadotropic hypogonadism, Abdominal pain, Hyp... ORPHA:35687
Myasthenia, Limb-Girdle, Autoimmune
Fatigable weakness, Hashimoto thyroiditis, Ptosis OMIM:159400
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Epicanthus, Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnorm... ORPHA:2526
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Hypospadias, Highly arched eyebrow, Hypertelorism, Sparse eyebrow, Synophrys, Optic atrophy, Upsl... ORPHA:487796
Cdags Syndrome
Ptosis, Sparse eyelashes, Hypospadias, Sparse eyebrow, Rectourethral fistula, Rectovaginal fistul... OMIM:603116
Bruck Syndrome 2
Pterygium OMIM:609220
Pfeiffer Syndrome
Hypertelorism, Ptosis ORPHA:710
Spinocerebellar Ataxia 36
Dysphagia, Ptosis OMIM:614153
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 5
Dysphagia, Ptosis OMIM:613077
Fucosidosis
Anhidrosis, Hypertelorism, Tortuosity of conjunctival vessels, Dystonia, Cherry red spot of the m... OMIM:230000
Idiopathic Panuveitis
Conjunctival hyperemia, Cataract, Red eye, Posterior synechiae of the anterior chamber ORPHA:280921
Vascular Ehlers-Danlos Syndrome
Keratoconus, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Hypospadias, Hypertelorism, Abno... ORPHA:286
Spondylodysplastic Ehlers-Danlos Syndrome
Agenesis of pineal gland, Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Cryptorchidism,... ORPHA:536471
Amastia, Bilateral, With Ureteral Triplication And Dysmorphism
Epicanthus, Absent nipple, Hypertelorism, Downslanted palpebral fissures, Ptosis OMIM:104350
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome
Hypospadias, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Male pseudohermaphroditism, Fe... ORPHA:2282
Kbg Syndrome
Telecanthus, Hypertelorism, Epispadias, Synophrys, Cryptorchidism, Long palpebral fissure, Downsl... OMIM:148050
Non-Progressive Cerebellar Ataxia With Intellectual Disability
Deeply set eye, Constipation, Palpebral edema, Intention tremor ORPHA:314647
Opitz Gbbb Syndrome
Bifid scrotum, Telecanthus, Enlarged ovaries, Hypospadias, Hypertelorism, Feeding difficulties in... ORPHA:2745
Phosphoribosylpyrophosphate Synthetase Superactivity
Epicanthus, Hypospadias, Cryptorchidism, Gout, Hypotelorism, Downslanted palpebral fissures, Ptosis OMIM:300661
Kosaki Overgrowth Syndrome
Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis OMIM:616592
Floating-Harbor Syndrome
Hypospadias, Celiac disease, Cryptorchidism, Glandular hypospadias, Atopic dermatitis, Deeply set... OMIM:136140
Mitochondrial Complex Iv Deficiency, Nuclear Type 1
Optic atrophy, Decreased liver function, Ptosis OMIM:220110
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyebrow, Aganglionic megacolon, Eczema, Recurrent skin infections, Hypospadias, Absent eye... OMIM:308205
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features
Highly arched eyebrow, Supernumerary nipple, Cryptorchidism, Synophrys, Feeding difficulties, Cho... OMIM:616728
Autosomal Dominant Robinow Syndrome
Abnormal penis morphology, Epicanthus, Hypoplasia of penis, Hypospadias, Curly eyelashes, Hyperte... ORPHA:3107
Arthrogryposis, Distal, Type 5D
Hypoplastic labia majora, Ptosis, Highly arched eyebrow, Lagophthalmos OMIM:615065
Barth Syndrome
Deeply set eye OMIM:302060
Isolated Complex I Deficiency
Optic disc pallor, Optic neuropathy, Feeding difficulties, Vomiting, Ptosis ORPHA:2609
Arthrogryposis Multiplex Congenita 5
Optic disc pallor, Gastrostomy tube feeding in infancy, Hand tremor, Upslanted palpebral fissure,... OMIM:618947
Fetal Alcohol Syndrome
Epicanthus, Telecanthus, Ptosis ORPHA:1915
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Hypospadias, Decreased response to growth hormone stimulation test, Highly arched eyebr... ORPHA:444077
Joubert Syndrome 21
Hypertelorism, Optic atrophy, Megalopapilla, Dysphagia, Chronic sinusitis, Ptosis OMIM:615636
Shprintzen-Goldberg Syndrome
Telecanthus, Hypertelorism, Cryptorchidism, Proptosis, Gastroesophageal reflux, Downslanted palpe... ORPHA:2462
Visual Impairment And Progressive Phthisis Bulbi
Flat cornea, Ptosis OMIM:618283
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Seborrheic dermatitis, Hyperhidrosis, Arthritis, Eczematoid dermatitis, Ptosis OMIM:259100
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Hypergonadotropic hypogonadism, Ptosis OMIM:212112
Koolen-De Vries Syndrome Due To A Point Mutation
Epicanthus, Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Testicula... ORPHA:363965
17Q21.31 Microdeletion Syndrome
Epicanthus, Hypospadias, Eczema, Decreased response to growth hormone stimulation test, Testicula... ORPHA:363958
Junctional Epidermolysis Bullosa With Pyloric Atresia
Nausea and vomiting, Recurrent skin infections, Urinary bladder inflammation, Abdominal distentio... ORPHA:79403
Microcephaly 29, Primary, Autosomal Recessive
Deeply set eye, Thick eyebrow OMIM:620047
Loeys-Dietz Syndrome 5
Eosinophilic infiltration of the esophagus, Hiatus hernia, Hypertelorism, Osteoarthritis, Proptos... OMIM:615582
Tsh-Secreting Pituitary Adenoma
Tremor, Hyperhidrosis, Vomiting, Male hypogonadism, Hyperthyroidism, Hypogonadotropic hypogonadis... ORPHA:91347
Schwartz-Jampel Syndrome
Abnormal eyebrow morphology, Cataract, Ectopia lentis, Feeding difficulties in infancy, Hypertelo... ORPHA:800
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Epicanthus, Peripheral retinal avascularization, External genital hypoplasia, Hepatoblastoma, Cry... ORPHA:96334
Insulin-Like Growth Factor I Deficiency
Elevated circulating growth hormone concentration, Ptosis OMIM:608747
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency
Eczema, Abdominal pain, Lymphadenitis, Chronic diarrhea, Hematochezia, Inflammation of the large ... OMIM:615895
Kearns-Sayre Syndrome
Hypoparathyroidism, Primary adrenal insufficiency, Ptosis OMIM:530000
Gjc2-Related Late-Onset Primary Lymphedema
Recurrent skin infections, Ptosis ORPHA:568051
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Long palpebral fissure, Ptosis OMIM:603387
Au-Kline Syndrome
Supernumerary nipple, Lagophthalmos, Cryptorchidism, Feeding difficulties, Gastroesophageal reflu... OMIM:616580
Six2-Related Frontonasal Dysplasia
Hypertelorism, Epicanthus inversus, Ptosis ORPHA:488437
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Ptosis OMIM:606220
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Bifid scrotum, Epicanthus, Torticollis, Hypospadias, Hypertelorism, Cryptorchidism, Antecubital p... OMIM:609945
Rajab Interstitial Lung Disease With Brain Calcifications 1
Small scrotum, Intestinal malrotation, Esophageal varix, Feeding difficulties, Hypotelorism, Deep... OMIM:613658
Hirschsprung Disease
Nausea and vomiting, Intestinal polyposis, Intestinal obstruction, Aganglionic megacolon, Abdomin... ORPHA:388
Joubert Syndrome 1
Optic disc pallor, Epicanthus, Highly arched eyebrow, Optic disc coloboma, Ptosis OMIM:213300
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Corneal opacity, Leukocoria, Uveitis, Microcornea, Buphthalmos, Shallow anterior chambe... OMIM:221900
Popliteal Pterygium Syndrome
Bifid scrotum, Hypoplasia of the vagina, Small scrotum, Cryptorchidism, Ankyloblepharon, Hypoplas... OMIM:119500
Okur-Chung Neurodevelopmental Syndrome
Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Feeding difficulties, Constipation, ... OMIM:617062
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type
Hypertelorism, Epicanthus, Ptosis OMIM:616723
Viss Syndrome
Chronic gastritis, Ptosis, Duodenitis, Eczema, Intestinal malrotation, Hypertelorism, Celiac dise... OMIM:619472
Cardiac-Valvular Ehlers-Danlos Syndrome
Myopic astigmatism, Thick eyebrow, Ptosis ORPHA:230851
Fibromuscular Dysplasia, Multifocal
Deeply set eye, Downslanted palpebral fissures, Hiatus hernia OMIM:619329
Kabuki Syndrome
Ptosis, Hypoplasia of penis, Hypospadias, Highly arched eyebrow, Precocious puberty, Cryptorchidi... ORPHA:2322
Autosomal Recessive Ataxia, Beauce Type
Arm dystonia, Ptosis ORPHA:88644
Autosomal Recessive Robinow Syndrome
Epicanthus, Hypoplasia of penis, Hypertelorism, Cryptorchidism, Upslanted palpebral fissure, Prop... ORPHA:1507
Primrose Syndrome
Epicanthus, Hypergonadotropic hypogonadism, Hypertelorism, Bilateral cryptorchidism, Cryptorchidi... OMIM:259050
Codas Syndrome
Cataract, Cryptorchidism, Developmental cataract, Rectovaginal fistula, Gastroesophageal reflux, ... OMIM:600373
Mitochondrial Complex Iii Deficiency, Nuclear Type 6
Acute hepatic failure, Vomiting, Ptosis OMIM:615453
Oculopharyngodistal Myopathy 1
Facial palsy, Tremor, Bilateral ptosis, Dysphagia, Ptosis OMIM:164310
Noonan Syndrome 2
Epicanthus, Hypertelorism, Sparse eyebrow, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:605275
Microcephaly, Epilepsy, And Diabetes Syndrome 1
Small scrotum, External genital hypoplasia, Cryptorchidism, Optic atrophy, Feeding difficulties, ... OMIM:614231
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type
Hypertelorism, Sparse eyebrow, Cryptorchidism, Synophrys, Ptosis OMIM:309583
Warburg-Cinotti Syndrome
Epicanthus, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficiency, Decreased cornea... OMIM:618175
Steinert Myotonic Dystrophy
Intestinal pseudo-obstruction, Decreased response to growth hormone stimulation test, Oral-pharyn... ORPHA:273
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome
Blepharophimosis, Ptosis ORPHA:2031
Treacher Collins Syndrome 1
Sparse lower eyelashes, Lacrimal duct stenosis, Cryptorchidism, Lower eyelid coloboma, Upper eyel... OMIM:154500
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis
Cataract, Gastroparesis, Intestinal pseudo-obstruction, Dysphagia, Ptosis OMIM:607459
Leptospirosis
Nausea and vomiting, Papilledema, Pericarditis, Skin rash, Anorexia, Abdominal pain, Diarrhea, He... ORPHA:509
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition
Cervix cancer, Multinodular goiter, Deeply set eye, Adenocarcinoma of the colon OMIM:620189
Floating-Harbor Syndrome
Hypospadias, Precocious puberty, Cryptorchidism, Celiac disease, Deeply set eye, Gastroesophageal... ORPHA:2044
Tubulointerstitial Nephritis And Uveitis Syndrome
Papilledema, Nongranulomatous uveitis, Cataract, Anterior uveitis, Skin rash, Anorexia, Abdominal... ORPHA:91500
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Epicanthus, Cataract, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Eyelid coloboma, Ptosis ORPHA:306542
Aicardi-Goutières Syndrome
Myositis, Chilblains, Tremor, Developmental glaucoma, Arthritis, Eyelid coloboma, Panniculitis, D... ORPHA:51
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1
Keratoconus, Gastrointestinal hemorrhage, Epicanthus, Recurrent pneumonia, Microcornea, Downslant... OMIM:225400
Myasthenic Syndrome, Congenital, 21, Presynaptic
Fatigable weakness of skeletal muscles, Feeding difficulties, Meconium ileus, Ptosis OMIM:617239
Deafness-Small Bowel Diverticulosis-Neuropathy Syndrome
Duodenal ulcer, Malabsorption, Chronic diarrhea, Steatorrhea, Ptosis ORPHA:3217
Aase-Smith Syndrome I
Ptosis OMIM:147800
Cardiac, Facial, And Digital Anomalies With Developmental Delay
Epicanthus, Feeding difficulties, Optic atrophy, Ptosis OMIM:618164
Monosomy 13Q14
Abnormality of the gastrointestinal tract, Epicanthus, Cataract, Hypertelorism, Iris coloboma, Pt... ORPHA:1587
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria
Hypospadias, Feeding difficulties, Choreoathetosis, Hyperhidrosis, Vomiting, Gastroesophageal ref... ORPHA:17
Mitochondrial Complex I Deficiency, Nuclear Type 1
Optic disc pallor, Hypospadias, Optic neuropathy, Feeding difficulties in infancy, Upslanted palp... OMIM:252010
Congenital Myopathy 13
Telecanthus, Cryptorchidism, Feeding difficulties, Blepharophimosis, Downslanted palpebral fissur... OMIM:255995
Ayme-Gripp Syndrome
Pericarditis, Hypertelorism, Developmental cataract, Upslanted palpebral fissure, Downslanted pal... OMIM:601088
Multiple Synostoses Syndrome 1
Upslanted palpebral fissure, Astigmatism, Ptosis OMIM:186500
Combined Oxidative Phosphorylation Deficiency 12
Dystonia, Feeding difficulties, Ptosis OMIM:614924
Orofaciodigital Syndrome Xvi
Short palpebral fissure, Ptosis OMIM:617563
Camptodactyly Syndrome, Guadalajara Type 3
Telecanthus, Symblepharon, Thick eyebrow, Micropenis ORPHA:488434
Holoprosencephaly 4
Hypotelorism, Ptosis OMIM:142946
17Q11 Microdeletion Syndrome
Hypertelorism, Retinal vascular proliferation, Precocious puberty, Gastrointestinal stroma tumor,... ORPHA:97685
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins
Hypospadias, Intestinal malrotation, Hypertelorism, Esophageal atresia, Tracheoesophageal fistula... OMIM:265380
Lathosterolosis
Epicanthus, Cataract, Bilobate gallbladder, Ambiguous genitalia, male, Opacification of the corne... OMIM:607330
Primary Hepatic Neuroendocrine Carcinoma
Anorexia, Abdominal distention, Diarrhea, Episodic abdominal pain, Neoplasm of the liver, Nausea,... ORPHA:100085
Neutral Lipid Storage Disease With Ichthyosis
Ectropion, Subcapsular cataract, Ptosis ORPHA:98907
Cornelia De Lange Syndrome
Hypoplasia of penis, Cataract, Hypospadias, Intestinal malrotation, Curly eyelashes, Highly arche... ORPHA:199
Noonan Syndrome-Like Disorder With Or Without Juvenile Myelomonocytic Leukemia
Epicanthus, Highly arched eyebrow, Hypertelorism, Cryptorchidism, Poor suck, Downslanted palpebra... OMIM:613563
Neurofibromatosis-Noonan Syndrome
Epicanthus, Hypertelorism, Cryptorchidism, Lisch nodules, Downslanted palpebral fissures, Ptosis OMIM:601321
Congenital Myopathy 17
Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis OMIM:618975
Plague
Chapped lip, Skin rash, Anorexia, Abdominal pain, Erythema nodosum, Lymphadenitis, Hematemesis, D... ORPHA:707
X-Linked Emery-Dreifuss Muscular Dystrophy
Ptosis ORPHA:98863
Emery-Dreifuss Muscular Dystrophy
Ptosis ORPHA:261
Autosomal Dominant Emery-Dreifuss Muscular Dystrophy
Ptosis ORPHA:98853
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Macroorchidism, Ptosis OMIM:309520
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Papilledema, Corneal opacity, Esophageal varix, Feeding difficulties, Azoospermia, Gastric ulcer,... ORPHA:2072
Degcags Syndrome
Oral-pharyngeal dysphagia, Synophrys, Hypotelorism, Gastroesophageal reflux, Hypospadias, Hiatus ... OMIM:619488
Pearson Syndrome
Hypoparathyroidism, Cataract, Pancreatic fibrosis, Decreased response to growth hormone stimulati... ORPHA:699
Chime Syndrome
Epicanthus, Corneal opacity, Hypertelorism, Upslanted palpebral fissure, Ptosis ORPHA:3474
Johanson-Blizzard Syndrome
Colonic diverticula, Absent lacrimal punctum, Hypospadias, Septate vagina, Urethrovaginal fistula... OMIM:243800
Marburg Hemorrhagic Fever
Abnormality of the gastrointestinal tract, Pericarditis, Skin rash, Maculopapular exanthema, Anor... ORPHA:99826
Cardiospondylocarpofacial Syndrome
Epicanthus, Telecanthus, Gastroparesis, Hypertelorism, Feeding difficulties, Upslanted palpebral ... OMIM:157800
Kabuki Syndrome 1
Intestinal malrotation, Highly arched eyebrow, Premature thelarche, Sparse eyebrow, Bilateral pto... OMIM:147920
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Female pseudohermaphroditism, Hypertelorism, Cryptorchidism, Proptosis, Sh... ORPHA:1519
Noonan Syndrome
Hypogonadotropic hypogonadism, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, Pr... ORPHA:648
Cohen-Gibson Syndrome
Epicanthus, Cataract, Hypertelorism, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:617561
Teebi-Shaltout Syndrome
Hypertelorism, Telecanthus, Highly arched eyebrow, Ptosis OMIM:272950
Branchiooculofacial Syndrome
Telecanthus, Cataract, Hypospadias, Facial palsy, Supernumerary nipple, Hypertelorism, Malrotatio... OMIM:113620
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1
Epicanthus, Small scrotum, Hypospadias, Hypertelorism, Cryptorchidism, Optic atrophy, Upslanted p... OMIM:309580
Noonan Syndrome With Multiple Lentigines
Cryptorchidism, Hypertelorism, Hypospadias, Ptosis ORPHA:500
Meckel Syndrome, Type 1
External genital hypoplasia, Intestinal malrotation, Hypertelorism, Cryptorchidism, Ambiguous gen... OMIM:249000
Leopard Syndrome 1
Epicanthus, Hypospadias, Hypertelorism, Cryptorchidism, Hypoplasia of the ovary, Aplasia of the o... OMIM:151100
Noonan Syndrome 3
Epicanthus, Hypertelorism, Cryptorchidism, Downslanted palpebral fissures, Ptosis OMIM:609942
Charge Syndrome
Decreased response to growth hormone stimulation test, External genital hypoplasia, Gonadotropin ... OMIM:214800
Townes-Brocks Syndrome
Bifid scrotum, Hypoplasia of penis, Cataract, Hypospadias, Rectoperineal fistula, Bowel incontine... ORPHA:857
Wolf-Hirschhorn Syndrome
Rieger anomaly, Epicanthus, Hypospadias, Highly arched eyebrow, Hypertelorism, Precocious puberty... OMIM:194190
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Cataract, Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Intestinal malrotation, Cryp... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Cataract, Hypospadias, Pneumonia, Highly arched eyebrow, Trichiasis, Intestinal malrotation, Cryp... ORPHA:353277
Auriculocondylar Syndrome
Feeding difficulties, Ptosis ORPHA:137888
Glycogen Storage Disease Xii
Cholelithiasis, Epicanthus, Cholecystitis, Ptosis OMIM:611881
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Epicanthus, Telecanthus, Highly arched eyebrow, Hypertelorism, Hydrocele testis, Hypoplastic nipp... OMIM:280000
Coffin-Siris Syndrome
Hypospadias, Cryptorchidism, Prominent eyelashes, Feeding difficulties, Aspiration pneumonia, Hep... ORPHA:1465
Hunter-Macdonald Syndrome
Hypospadias, Premature osteoarthritis, Upslanted palpebral fissure, Blepharophimosis, Short palpe... OMIM:611962
Marden-Walker Syndrome
Abnormal penis morphology, Hypospadias, Epispadias, Pyloric stenosis, Feeding difficulties, Bleph... ORPHA:2461
Microphthalmia, Syndromic 2
Hypospadias, Septate vagina, Cryptorchidism, Developmental cataract, Microcornea, Laterally curve... OMIM:300166
Okamoto Syndrome
Intestinal malrotation, Bifid uterus, Hypertelorism, Astigmatism, Gastroesophageal reflux, Propto... ORPHA:2729
Coffin-Siris Syndrome 1
Clitoral hypertrophy, Hypospadias, Intestinal malrotation, Duodenal ulcer, Hypertelorism, Feeding... OMIM:135900
Diamond-Blackfan Anemia
Epicanthus, Hypospadias, Hypertelorism, Developmental glaucoma, Developmental cataract, Adenocarc... ORPHA:124
Thrombocytopenia-Absent Radius Syndrome
Cataract, Corneal opacity, Seborrheic dermatitis, Pancreatic cysts, Aplasia of the uterus, Meckel... OMIM:274000
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult
Gastric hypertrophy, Hyperhidrosis, Arthritis, Gastric ulcer, Ptosis OMIM:161700
Alström Syndrome
Decreased response to growth hormone stimulation test, Hypoplasia of the Leydig cells, Deeply set... ORPHA:64
Tukel Syndrome
Congenital fibrosis of extraocular muscles, Ptosis OMIM:609428
Fetal Akinesia Deformation Sequence 1
Telecanthus, Hypertelorism, Cryptorchidism, Proptosis, Blepharophimosis, Short palpebral fissure,... OMIM:208150
Biliary, Renal, Neurologic, And Skeletal Syndrome
Anterior pituitary hypoplasia, Hypertelorism, Abdominal distention, Esophageal varix, Upslanted p... OMIM:619534
Costello Syndrome
Epicanthus, Hypertelorism, Pyloric stenosis, Poor suck, Vestibular schwannoma, Downslanted palpeb... OMIM:218040
Autosomal Dominant Cutis Laxa
Corneal opacity, Bronchiectasis, Developmental cataract, Pyelonephritis, Feeding difficulties, Vo... ORPHA:90348
Arima Syndrome
Esophageal varix, Optic atrophy, Ptosis OMIM:243910
Paroxysmal Nocturnal Hemoglobinuria
Esophageal spasms, Conjunctival icterus, Odynophagia, Episodic abdominal pain, Dysphagia ORPHA:447
Mitochondrial Complex Iii Deficiency, Nuclear Type 1
Cataract, Decreased mitochondrial complex III activity in liver tissue, Cholangitis, Feeding diff... OMIM:124000
Noonan Syndrome 1
Epicanthus, Hypospadias, Hypertelorism, Feeding difficulties in infancy, Cryptorchidism, Synoviti... OMIM:163950
Glycogen Storage Disease Due To Acid Maltase Deficiency
Bowel incontinence, Feeding difficulties in infancy, Fatigable weakness of swallowing muscles, Dy... ORPHA:365
Pallister-Hall Syndrome
Small scrotum, Gonadotropin deficiency, Micropenis, Aplasia/hypoplasia of the uterus, Hypospadias... ORPHA:672
Turner Syndrome Due To Structural X Chromosome Anomalies
Epicanthus, Celiac disease, Increased circulating gonadotropin level, Neck pterygia, Thyroiditis,... ORPHA:99413
Mosaic Monosomy X
Epicanthus, Celiac disease, Increased circulating gonadotropin level, Neck pterygia, Thyroiditis,... ORPHA:99228
Monosomy X
Epicanthus, Celiac disease, Increased circulating gonadotropin level, Neck pterygia, Thyroiditis,... ORPHA:99226
Turner Syndrome
Epicanthus, Celiac disease, Increased circulating gonadotropin level, Neck pterygia, Thyroiditis,... ORPHA:881
Neu-Laxova Syndrome 1
Ablepharon, Cataract, Bifid uterus, Absent eyelashes, Cryptorchidism, Hypertelorism, Proptosis, P... OMIM:256520
Mesomelia-Synostoses Syndrome
Hypertelorism, Telecanthus, Downslanted palpebral fissures, Ptosis OMIM:600383
Proteus Syndrome
Central heterochromia, Cataract, Thymus hyperplasia, Testicular neoplasm, Hypertelorism, Retinal ... ORPHA:744
Microphthalmia, Syndromic 1
Aganglionic megacolon, Hypospadias, Cryptorchidism, Rectal prolapse, Optic disc coloboma, Pyloric... OMIM:309800
Pituitary Hormone Deficiency, Combined Or Isolated, 8
Ectopic posterior pituitary, Anterior pituitary hypoplasia, Anterior pituitary agenesis, Ptosis OMIM:620303
Peters-Plus Syndrome
Hypoplasia of the vagina, Cataract, Hypospadias, Bilobate gallbladder, Hypertelorism, Feeding dif... OMIM:261540
Intellectual Developmental Disorder With Hypotonia And Behavioral Abnormalities
Rectoperineal fistula, Feeding difficulties in infancy, Cryptorchidism, Episodic vomiting, Ptosis OMIM:618748
Coffin-Siris Syndrome 4
Feeding difficulties, Long eyelashes, Thick eyebrow, Ptosis OMIM:614609
Facial Dysmorphism-Anorexia-Cachexia-Eye And Skin Anomalies Syndrome
Anorexia, Ptosis ORPHA:1969
Saethre-Chotzen Syndrome
Abnormal nasolacrimal system morphology, Hypertelorism, Buphthalmos, Shallow orbits, Ptosis OMIM:101400
Pallister-Killian Syndrome
Small scrotum, Hypospadias, Hypertelorism, Sparse eyebrow, Cryptorchidism, Aplasia of the upper v... OMIM:601803
Faciocardiomelic Syndrome
Telecanthus, Short eyelashes, Ptosis OMIM:612731
Joubert Syndrome 5
Ptosis OMIM:610188
Craniofacial Microsomia 1
Limbal dermoid, Blepharophimosis, Upper eyelid coloboma, Ptosis OMIM:164210
Singleton-Merten Syndrome 1
Ptosis OMIM:182250

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 Nrtn

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 Nrtn.

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

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All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Nrtntm107761(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Nrtntm1e(EUCOMM)Wtsi Targeted, non-conditional allele ES Cells
Nrtntm1(KOMP)Vlcg Reporter-tagged deletion allele (with selection cassette) ES Cells

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