Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Pus1 MGI:1929237

Gene Summary

Name:

pseudouridine synthase 1

Synonyms:

MPUS1, A730013B20Rik, mPus1p

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal iris pigmentation	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
impaired pupillary reflex	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
abnormal eyelid morphology	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
irregularly shaped pupil	Pus1^em1(IMPC)J	HOM	Late adult	6.99×10^-05
increased circulating phosphate level	Pus1^em1(IMPC)J	HOM	Early adult	2.24×10^-05
sclerocornea	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
increased circulating bilirubin level	Pus1^em1(IMPC)J	HOM	Early adult	3.31×10^-05
mydriasis	Pus1^em1(IMPC)J	HOM	Late adult	7.06×10^-05
increased thigmotaxis	Pus1^em1(IMPC)J	HOM	Late adult	5.34×10^-05
eyelids fail to open	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
exophthalmos	Pus1^em1(IMPC)J	HOM	Late adult	4.30×10^-05
corneal vascularization	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
decreased grip strength	Pus1^em1(IMPC)J	HOM	Early adult	5.78×10^-05
narrow eye opening	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
decreased locomotor activity	Pus1^em1(IMPC)J	HOM	Late adult	8.02×10^-07
eye hemorrhage	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
corneal deposits	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
abnormal iris transillumination	Pus1^em1(IMPC)J	HOM	Late adult	2.42×10^-05
abnormal iris morphology	Pus1^em1(IMPC)J	HOM	Late adult	6.55×10^-05

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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.

Eye Morphology

Images Ophthalmoscopy

3 Images

View images

Auditory Brain Stem Response

Click-evoked + 6 to 30kHz tone waveforms (pdf format)

8 Images

View images

Electrocardiogram (ECG)

Waveform Image

15 Images

View images

Human diseases caused by Pus1 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.

Human diseases associated with Pus1 (2 diseases)
Human diseases predicted to be associated with Pus1 (1315 diseases)

The table below shows human diseases associated to Pus1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1		Exercise intolerance, Scapular winging, Decreased activity of mitochondrial complex IV, Ragged-re...	OMIM:600462
Mitochondrial Myopathy And Sideroblastic Anemia		Myopathy, Generalized limb muscle atrophy, Delayed puberty	ORPHA:2598

The table below shows human diseases predicted to be associated to Pus1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Tietz Albinism-Deafness Syndrome	White eyelashes, White eyebrow, Blue irides, Generalized hypopigmentation, Heterochromia iridis, ...	OMIM:103500
Hypoparathyroidism, Familial Isolated, 2	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:618883
Crigler-Najjar Syndrome Type 2	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79235
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Epicanthus, Optic atrophy, Upslanted palpebral fissure, Iris cyst, Ptosis	OMIM:620086
Autosomal Dominant Mitochondrial Myopathy With Exercise Intolerance	Exercise intolerance, Proximal muscle weakness in upper limbs, Increased mitochondrial number, Sh...	ORPHA:457050
Horner Syndrome, Congenital	Congenital Horner syndrome, Deeply set eye, Heterochromia iridis	OMIM:143000
Myopathy, Isolated Mitochondrial, Autosomal Dominant	Exercise intolerance, Short stature, Facial palsy, Decreased activity of mitochondrial complex IV...	OMIM:616209
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Hypertelorism, Microcornea, Narrow palpebral ...	OMIM:615145
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, Telecanthus, Hypermelanotic macule, White hair, Blue irides, Premat...	OMIM:619947
Progressive Hemifacial Atrophy	Deeply set eye, Irregular hyperpigmentation, Heterochromia iridis, Ptosis	ORPHA:1214
Myopathy, Distal, With Rimmed Vacuoles	Skeletal muscle atrophy, Scapular winging, Internally nucleated skeletal muscle fibers, Facial pa...	OMIM:617158
Pseudohypoparathyroidism, Type Ii	Hyperphosphatemia, Hypocalcemia	OMIM:203330
Exercise Intolerance, Riboflavin-Responsive	Exercise intolerance, Ragged-red muscle fibers	OMIM:616839
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Central opacification of the cornea, Blepharospasm, Conjunctival...	ORPHA:98957
Uveal Melanoma	Retinal detachment, Iris melanoma, Inferior lens subluxation, Abnormal fundus morphology, Vitreou...	ORPHA:39044
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Jaundice, Familial Obstructive, Of Infancy	Neonatal hyperbilirubinemia	OMIM:308600
Hyperbilirubinemia, Conjugated, Type Iii	Conjugated hyperbilirubinemia	OMIM:237550
Hyperbilirubinemia, Transient Familial Neonatal	Neonatal unconjugated hyperbilirubinemia	OMIM:237900
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Microcornea, Hy...	ORPHA:2334
Crigler-Najjar Syndrome, Type Ii	Unconjugated hyperbilirubinemia	OMIM:606785
Myopathy, Distal, 6, Adult-Onset, Autosomal Dominant	Internally nucleated skeletal muscle fibers, Autophagic vacuoles, Increased variability in muscle...	OMIM:618655
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Miosis, Mosaic corneal dystrophy, Deep anterior chamb...	OMIM:309300
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Hypopigmentation of hair, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Persistent p...	ORPHA:1067
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Ataxia, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Microphthalmia, Syndromic 16	Ankyloblepharon, Sclerocornea	OMIM:611038
Vernal Keratoconjunctivitis	Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate...	ORPHA:70476
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Dilution, Pigmentary	Hypopigmentation of hair, Hypopigmentation of the skin, Hypopigmentation of the fundus, Iris hypo...	OMIM:126070
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Intestinal Botulism	Ptosis, Dysphagia, Mydriasis	ORPHA:178481
Toxin-Mediated Infectious Botulism	Ptosis, Dysphagia, Mydriasis	ORPHA:230800
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Microcornea, Buphthalmos, Anterior synechiae of the ante...	OMIM:269400
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Albinism, Oculocutaneous, Type Iv	Hypopigmentation of hair, Albinism, Blue irides, Macular hypoplasia, Hypopigmentation of the fundus	OMIM:606574
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Glutathione Peroxidase Deficiency	Neonatal hyperbilirubinemia	OMIM:614164
Wound Botulism	Ptosis, Cardiac arrest, Dysphagia, Mydriasis	ORPHA:178475
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Atopic Keratoconjunctivitis	Corneal opacity, Abnormal eyelid morphology, Keratitis, Loss of eyelashes, Keratoconjunctivitis s...	ORPHA:163934
Hemolytic Anemia Due To Glutathione Reductase Deficiency	Hyperbilirubinemia	OMIM:618660
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Gne Myopathy	Scapular winging, Muscle fiber inclusion bodies, Hip flexor weakness, Facial palsy, Tibialis musc...	ORPHA:602
Iatrogenic Botulism	Ptosis, Orthostatic hypotension, Dysphagia, Mydriasis	ORPHA:254509
Brittle Cornea Syndrome 2	Keratoconus, Flat cornea, Sclerocornea, Keratoglobus, Gait disturbance, Decreased corneal thickne...	OMIM:614170
Waardenburg Syndrome, Type 4B	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613265
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Hyperbilirubinemia, Rotor Type	Conjugated hyperbilirubinemia	OMIM:237450
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness	OMIM:217300
Hypercholanemia, Familial, 2	Increased serum bile acid concentration, Unconjugated hyperbilirubinemia	OMIM:619256
Adult-Onset Foveomacular Vitelliform Dystrophy	Retinal nonattachment, Choroideremia, Vitelliform-like macular lesions, Iris hypopigmentation	ORPHA:99000
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Polyglucosan Body Myopathy 2	Pelvic girdle amyotrophy, Muscle fiber inclusion bodies, Peroneal muscle weakness, Hand muscle we...	OMIM:616199
Oculocutaneous Albinism, Type Viii	Hypoplasia of the fovea, Hypopigmentation of hair, Iris transillumination defect, Chorioretinal h...	OMIM:619165
Waardenburg Syndrome, Type 4A	White eyelashes, White eyebrow, Ataxia, Blue irides, Hypopigmented skin patches, Premature grayin...	OMIM:277580
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	OMIM:237500
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Progressive cerebellar ataxia, Corneal opacity, Corneal dystrophy, Ataxia	ORPHA:3177
Crigler-Najjar Syndrome, Type I	Unconjugated hyperbilirubinemia	OMIM:218800
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 26	Fatty replacement of skeletal muscle, Calf muscle hypertrophy, Proximal muscle weakness in lower ...	OMIM:618848
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Inclusion Body Myositis	Skeletal muscle atrophy, Abnormal muscle fiber morphology, Quadriceps muscle weakness, Ragged-red...	ORPHA:611
Congenital Primary Aphakia	Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Retinal dysplas...	ORPHA:83461
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Cataract 50 With Or Without Glaucoma	Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Infant Botulism	Mydriasis, Cardiac arrest, Anorexia, Hypertension, Keratoconjunctivitis sicca, Hypotension, Dysph...	ORPHA:178478
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Piebald Trait-Neurologic Defects Syndrome	Abnormal eyebrow morphology, Hypopigmentation of hair, Ataxia, Abnormal eyelash morphology, Hypop...	ORPHA:2885
Waardenburg Syndrome, Type 2B	Premature graying of hair, White forelock, Heterochromia iridis	OMIM:600193
Oculocutaneous Albinism Type 1	Hypoplasia of the fovea, White eyelashes, White eyebrow, Blue irides, Depigmented fundus, Iris tr...	ORPHA:352731
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Microcornea, Posterior synechiae of the anterior chamber...	OMIM:610256
Phenylketonuria	Hyperactivity, Cataract, Aggressive behavior, Blue irides, Depression, Irritability, Compulsive b...	OMIM:261600
Usher Syndrome Type 3	Cataract, Ataxia, Depression, Astigmatism, Iris hypopigmentation	ORPHA:231183
8Q21.11 Microdeletion Syndrome	Epicanthus, Cataract, Corneal opacity, Iris hypopigmentation, Sclerocornea, Hypertelorism, Blepha...	ORPHA:284160
Corneal Dystrophy, Reis-Bucklers Type	Palpebral edema, Corneal opacity, Corneal dystrophy, Corneal erosion, Opacification of the cornea...	OMIM:608470
Griscelli Syndrome Type 3	Hypopigmentation of hair, Partial albinism, Iris hypopigmentation	ORPHA:79478
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 7	Distal lower limb amyotrophy, Proximal muscle weakness in upper limbs, Calf muscle hypertrophy, P...	OMIM:601954
Oculoauricular Syndrome	Cone/cone-rod dystrophy, Retinal detachment, Cataract, Sclerocornea, Morning glory anomaly, Rod-c...	OMIM:612109
Microphthalmia, Isolated, With Coloboma 10	Microcoria, Optic pit, Iris coloboma, Chorioretinal coloboma	OMIM:616428
Cholestasis, Progressive Familial Intrahepatic, 11	Abnormal circulating bilirubin concentration, Increased serum bile acid concentration	OMIM:619874
Foodborne Botulism	Ptosis, Arrhythmia, Dysphagia, Mydriasis	ORPHA:228371
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 2	Fatigue, Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diame...	OMIM:253601
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Xeroderma Pigmentosum, Complementation Group D	Cataract, Entropion, Ataxia, Keratitis, Telangiectasia, Choreoathetosis, Keratoconjunctivitis sic...	OMIM:278730
Riboflavin Transporter Deficiency	Optic disc pallor, Iris hypopigmentation, Ataxia, Aggressive behavior, Tremor, Hypertension, Abno...	ORPHA:97229
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Intellectual Developmental Disorder, Autosomal Recessive 50	Heterochromia iridis	OMIM:616460
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Limb ataxia, Progressive cerebellar ataxia, Progressive gait ataxia, Truncal ataxia, Mydriasis	ORPHA:247815
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 3	Muscle fiber inclusion bodies, Centrally nucleated skeletal muscle fibers, Proximal muscle weakne...	OMIM:615424
Myofibrillar Myopathy 11	Fatigue, Centrally nucleated skeletal muscle fibers, Overweight, Z-band streaming, Calf muscle hy...	OMIM:619178
Juvenile Xanthogranuloma	Hyphema, Uveitis, Asymmetry of iris pigmentation, Proptosis, Iritis, Multiple cafe-au-lait spots,...	ORPHA:158000
Tubular Aggregate Myopathy	Centrally nucleated skeletal muscle fibers, Muscle fiber tubular inclusions, Type 2 muscle fiber ...	ORPHA:2593
Oliver-Mcfarlane Syndrome	Central heterochromia, Long eyebrows, Pigmentary retinopathy, Long eyelashes, Retinal degeneration	OMIM:275400
Hereditary Myopathy With Early Respiratory Failure	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis muscle weakness, H...	ORPHA:178464
Spinal Muscular Atrophy, Type Iv	Spinal muscular atrophy, Quadriceps muscle atrophy, Angulated muscle fibers, Centrally nucleated ...	OMIM:271150
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet	Posterior corneal stroma punctiform multicolored opacities	OMIM:619871
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures, Hypomagnesemia	ORPHA:2239
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Woolly Hair	Hypopigmentation of hair, Cataract, Abnormal retinal morphology, Abnormal pupil morphology, Spars...	ORPHA:170
Waardenburg Syndrome Type 2	Telecanthus, Hypopigmentation of hair, Hypopigmented skin patches, Premature graying of hair, Whi...	ORPHA:895
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Chorioretinal coloboma, Posterior e...	ORPHA:1473
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Epicanthus, Cataract, Sclerocornea, Microcornea, Ectopia pupillae, Long eyelashes, Cryptophthalmos	OMIM:615877
Rhabdomyolysis, Susceptibility To, 1	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Rhabdomyolysis, Type 2 muscle f...	OMIM:620235
Spinal Muscular Atrophy, Infantile, James Type	Hip contracture, Short stature, Distal amyotrophy, Type 1 muscle fiber predominance, Increased va...	OMIM:619042
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Microphthalmia With Brain And Digit Anomalies	Cataract, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Iris coloboma	ORPHA:139471
X-Linked Intellectual Disability-Retinitis Pigmentosa Syndrome	Iris hypopigmentation	ORPHA:85332
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Abnormality of retinal pigmentation, Epicanthus, Abnormal retinal vascular morphology, Synophrys,...	ORPHA:1390
Miller Fisher Syndrome	Ataxia, Mydriasis, Anisocoria, Dysphagia, Ptosis	ORPHA:98919
Inclusion Body Myopathy And Brain White Matter Abnormalities	Proximal muscle weakness in upper limbs, Scapular winging, Low back pain, Centrally nucleated ske...	OMIM:619733
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Myopathy, Sarcoplasmic Body	Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Increased variability in mus...	OMIM:620286
Gorlin-Chaudhry-Moss Syndrome	Sclerocornea, Hypertelorism, Abnormal eyelid morphology, Upper eyelid coloboma, Astigmatism	ORPHA:2095
Inhalational Botulism	Ptosis, Mydriasis	ORPHA:254504
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Retinal pigment epithelial mottling, Retinopathy, Corneal crystals	OMIM:219900
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Waardenburg Syndrome, Type 2A	White eyelashes, White eyebrow, Partial albinism, Albinism, Synophrys, Premature graying of hair,...	OMIM:193510
Kleeblattschaedel	Proptosis, Recurrent corneal erosions	OMIM:148800
Anoctamin-5-Related Limb-Girdle Muscular Dystrophy R12	Internally nucleated skeletal muscle fibers, Fatty replacement of skeletal muscle, Flexion contra...	ORPHA:206549
Facioscapulohumeral Muscular Dystrophy 3, Digenic	Fatigue, Scapular winging, Angulated muscle fibers, Shoulder girdle muscle weakness, Weakness of ...	OMIM:619477
Microphthalmia, Isolated 2	Opacification of the corneal stroma	OMIM:610093
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Hyphema, Leukocoria, Uveitis,...	OMIM:221900
Frontofacionasal Dysplasia	Telecanthus, Cataract, Blepharophimosis, Brushfield spots, Hypertelorism, Upper eyelid coloboma, ...	ORPHA:1791
Usher Syndrome Type 1	Depression, Cataract, Ataxia, Iris hypopigmentation	ORPHA:231169
Microcephaly-Albinism-Digital Anomalies Syndrome	Hypopigmentation of the skin, Iris hypopigmentation	ORPHA:2513
Gómez-López-Hernández Syndrome	Telecanthus, Corneal opacity, Ataxia, Hypertelorism	ORPHA:1532
Griscelli Syndrome Type 1	Partial albinism, Ataxia, White hair, Premature graying of hair, Retinopathy, Iris hypopigmentation	ORPHA:79476
Anterior Segment Dysgenesis 3	Rieger anomaly, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters anomaly, Post...	OMIM:601631
Nonaka Myopathy	Distal amyotrophy, EMG: myopathic abnormalities, Distal lower limb muscle weakness, Deposits immu...	OMIM:605820
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Mitochondrial Myopathy With Diabetes	Exercise intolerance, Facial palsy, Ragged-red muscle fibers, Decreased activity of mitochondrial...	OMIM:500002
Intellectual Developmental Disorder, Autosomal Recessive 38	Hyperactivity, Aggressive behavior, Unsteady gait, Blue irides, Recurrent hand flapping, Self-mut...	OMIM:615516
Sensorineural Hearing Loss-Early Graying-Essential Tremor Syndrome	Premature graying of hair, Heterochromia iridis, Tremor	ORPHA:66633
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Abnormality of skin pigmentation, Keratoc...	ORPHA:1806
Pseudohypoparathyroidism, Type Ib	Hyperphosphatemia, Hypocalcemia	OMIM:603233
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Polyphagia, Inappropriate laug...	ORPHA:411515
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Aniridia, Downslanted palpebral fissures, Iris coloboma	ORPHA:251038
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 4	Back pain, Scapular winging, Centrally nucleated skeletal muscle fibers, Fatty replacement of ske...	OMIM:618129
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 8	Calf muscle pseudohypertrophy, Pelvic girdle muscle atrophy, Facial palsy, Centrally nucleated sk...	OMIM:254110
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Oculocutaneous Albinism Type 3	White eyelashes, White eyebrow, Freckling, Absent skin pigmentation, Blue irides, Optic nerve mis...	ORPHA:79433
Myopathy, Distal, 5	Myopathy, Distal amyotrophy, Muscle fiber splitting, Weakness of facial musculature, Distal lower...	OMIM:617030
Combined Oxidative Phosphorylation Deficiency 49	Exercise intolerance, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers, D...	OMIM:619024
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Chromosome 8Q21.11 Deletion Syndrome	Epicanthus, Cataract, Sclerocornea, Hypertelorism, Pigmentary retinopathy, Downslanted palpebral ...	OMIM:614230
Tonne-Kalscheuer Syndrome	Broad-based gait, Aggressive behavior, Hypertelorism, Tremor, Blue irides, Hypotelorism, Self-inj...	OMIM:300978
Oculopharyngodistal Myopathy 2	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Weakness of...	OMIM:618940
Unilateral Ocular Duplication	Abnormal eyebrow morphology, Hypertelorism, Abnormal pupil morphology, Microcornea, Blepharophimo...	ORPHA:3374
Malignant Hyperthermia, Susceptibility To, 2	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154275
Red Cell Phospholipid Defect With Hemolysis	Hyperbilirubinemia	OMIM:179700
Hypoparathyroidism, Familial Isolated, 1	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:146200
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Aggressive behavior, Optic atrophy, Leukocoria, Hy...	OMIM:310600
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Giant melanosom...	ORPHA:54
Mucolipidosis Iv	Corneal opacity, Optic atrophy, Opacification of the corneal stroma, Dystonia, Retinal degeneration	OMIM:252650
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Optic disc pallor, Cataract, Macular atrophy, Optic atrophy, Microcornea, Proptosis, Retinopathy	OMIM:616171
Cholestasis, Progressive Familial Intrahepatic, 12	Conjugated hyperbilirubinemia, Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:620010
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 3	Proximal upper limb amyotrophy, Myopathy, Shoulder girdle muscle weakness, Limb-girdle muscular d...	OMIM:609115
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 3	Scapular winging, Ankle flexion contracture, Limb-girdle muscle weakness, Flexion contracture, Ca...	OMIM:608099
Albinism, Oculocutaneous, Type Ii	Hypoplasia of the fovea, Hypopigmentation of hair, Freckles in sun-exposed areas, Albinism, Blue ...	OMIM:203200
3-Methylglutaconic Aciduria Type 4	Cardiomyopathy, Cataract, Iris hypopigmentation	ORPHA:67048
Botulism	Arrhythmia, Dysphagia, Mydriasis	ORPHA:1267
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Hypopigmentation of hair, Abnormal size of the palpebral fissures, Hypopigmented skin patches, Mi...	ORPHA:3214
Serotonin Syndrome	Restlessness, Tachycardia, Tremor, Hypertension, Irritability, Agitation, Hypotension, Mydriasis	ORPHA:43116
Malignant Hyperthermia, Susceptibility To, 3	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:154276
Eales Disease	Peripheral retinal neovascularization, Anterior uveitis, Rhegmatogenous retinal detachment, Trans...	ORPHA:40923
Myopathy, Centronuclear, 6, With Fiber-Type Disproportion	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617760
Scapuloperoneal Syndrome, Neurogenic, Kaeser Type	Foot dorsiflexor weakness, Peroneal muscle atrophy, Z-band streaming, Weakness of facial musculat...	OMIM:181400
Myopathy, Distal, 7, Adult-Onset, X-Linked	Proximal muscle weakness in upper limbs, Scapular winging, Centrally nucleated skeletal muscle fi...	OMIM:301075
2Q24 Microdeletion Syndrome	Cataract, Downslanted palpebral fissures, Abnormality iris morphology, Hypertelorism	ORPHA:1617
Rotor Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:3111
Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1A	Autophagic vacuoles, Facial hypotonia, Fatty replacement of skeletal muscle, Shoulder girdle musc...	ORPHA:266
Waardenburg Syndrome, Type 3	Telecanthus, Partial albinism, Synophrys, Blue irides, Hypopigmented skin patches, Premature gray...	OMIM:148820
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Sclerocornea, Hypoplasia of the iris, Eyelid coloboma, Limbal dermoid	OMIM:613001
Acute Zonal Occult Outer Retinopathy	Macular drusen, Retinal pigment epithelial atrophy, Abnormal retinal vascular morphology, Retinal...	ORPHA:284454
Brachyolmia Type 1, Toledo Type	Gait disturbance, Opacification of the corneal stroma	OMIM:271630
Edinburgh Malformation Syndrome	Neonatal hyperbilirubinemia	OMIM:129850
Pontocerebellar Hypoplasia Type 10	Highly arched eyebrow, Optic atrophy, Irritability, Proptosis, Long eyelashes, Long palpebral fis...	ORPHA:411493
Crigler-Najjar Syndrome Type 1	Neonatal hyperbilirubinemia, Unconjugated hyperbilirubinemia	ORPHA:79234
Rodrigues Blindness	Microcornea, Sclerocornea	OMIM:268320
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Lacrimal duct atresia, Ventricular tachycar...	OMIM:300952
Gilbert Syndrome	Unconjugated hyperbilirubinemia	OMIM:143500
Ophthalmoplegia, Familial Static	Anisocoria, Ptosis	OMIM:165000
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Hypertelorism, Microcornea, Deeply set eye, Peter...	OMIM:243605
Muscular Dystrophy, Congenital, Due To Integrin Alpha-7 Deficiency	Skeletal muscle atrophy, Torticollis, Fatty replacement of skeletal muscle, Increased variability...	OMIM:613204
Wyburn-Mason Syndrome	Epistaxis, Subarachnoid hemorrhage, Cerebral hemorrhage, Irritability, Proptosis, Retinal vascula...	ORPHA:53719
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Mucous Membrane Pemphigoid	Corneal opacity	ORPHA:46486
Alternating Hemiplegia Of Childhood	Dystonia, Ataxia, Cardiac conduction abnormality, Anorexia, Oral-pharyngeal dysphagia, Aggressive...	ORPHA:2131
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Gm1-Gangliosidosis, Type Iii	Ataxia, Opacification of the corneal stroma, Dystonia	OMIM:230650
Mitochondrial Complex Iv Deficiency, Nuclear Type 21	Short stature, Failure to thrive in infancy, Decreased activity of mitochondrial complex IV, Incr...	OMIM:619065
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Hypopigmentation of the skin, Polyphagia, Iris hypopigmentation	ORPHA:177910
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Arachnoid Cyst	Mydriasis, Subarachnoid hemorrhage, Inability to walk, Depression, Irritability, Disinhibition, G...	ORPHA:2356
Hypocalcemia, Autosomal Dominant 1	Hypokalemia, Hyperphosphatemia, Increased circulating renin level, Hypocalcemia, Hypomagnesemia	OMIM:601198
Cherubism	Macular scar, Optic neuropathy, Lower eyelid retraction, Proptosis, Marcus Gunn pupil	OMIM:118400
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Cataract, Peripheral retinal avascularization, Rhegmatog...	ORPHA:891
Exudative Vitreoretinopathy 4	Peripheral retinal avascularization, Posterior vitreous detachment, Vitreous hemorrhage, Exudativ...	OMIM:601813
Congenital Myopathy 1A, Autosomal Dominant, With Susceptibility To Malignant Hyperthermia	Skeletal muscle atrophy, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, I...	OMIM:117000
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity	ORPHA:2432
Dnajb6-Related Limb-Girdle Muscular Dystrophy D1	Abnormal muscle fiber morphology, Fatty replacement of skeletal muscle, Increased variability in ...	ORPHA:34516
Deafness-Hypogonadism Syndrome	Congenital stationary night blindness, Epicanthus, Heterochromia iridis, Hypertelorism	ORPHA:90646
Malignant Hyperthermia, Susceptibility To, 1	Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	OMIM:145600
Myopathy, X-Linked, With Postural Muscle Atrophy	Back pain, Skeletal muscle atrophy, Scapular winging, Achilles tendon contracture, Hamstring cont...	OMIM:300696
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Neurodevelopmental Disorder With Microcephaly And Structural Brain Anomalies	Aggressive behavior, Inability to walk, Upslanted palpebral fissure, Proptosis, Attention deficit...	OMIM:618492
Dna2-Related Mitochondrial Dna Deletion Syndrome	Multiple joint contractures, Decreased mitochondrial number, Limb-girdle muscle weakness, Myopath...	ORPHA:352470
Myopathy, Distal, Tateyama Type	Hand muscle weakness, Centrally nucleated skeletal muscle fibers, Intrinsic hand muscle atrophy, ...	OMIM:614321
Myopathy, Tubular Aggregate, 1	Flexion contracture, Type 2 muscle fiber atrophy, Proximal amyotrophy, Myopathy, Exercise-induced...	OMIM:160565
Recessive X-Linked Ichthyosis	Attention deficit hyperactivity disorder, Opacification of the corneal stroma	ORPHA:461
Bilateral Striopallidodentate Calcinosis	Corneal opacity, Subcutaneous hemorrhage	ORPHA:1980
Charcot-Marie-Tooth Disease Type 1B	Abnormal pupil morphology	ORPHA:101082
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis	OMIM:617388
Oculocutaneous Albinism Type 2	Hypoplasia of the fovea, Hypopigmentation of the skin, Hypopigmentation of hair, White eyelashes,...	ORPHA:79432
Combined Oxidative Phosphorylation Deficiency 38	Decreased activity of mitochondrial ATP synthase complex, Decreased activity of mitochondrial com...	OMIM:618378
Tibial Muscular Dystrophy	Peroneal muscle atrophy, Centrally nucleated skeletal muscle fibers, Quadriceps muscle weakness, ...	ORPHA:609
Short Syndrome	Posterior embryotoxon, Telecanthus, Corneal opacity, Hypertelorism, Abnormal pupil morphology, Hy...	ORPHA:3163
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Ataxia, Hypertelorism, Depression, Self-injurious behavior, Opacification of the c...	OMIM:601853
Exudative Vitreoretinopathy 1	Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Vitreous hemorrhage, ...	OMIM:133780
Distal Myopathy With Anterior Tibial Onset	Absent muscle fiber dysferlin, Tibialis muscle weakness, Limb-girdle muscle weakness, Intrinsic h...	ORPHA:178400
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 3	Fatigue, Skeletal muscle hypertrophy, Calf muscle hypertrophy, Muscular dystrophy, Increased vari...	OMIM:613157
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Proptosis, Corneal opacity	ORPHA:2370
Distal Myopathy, Tateyama Type	Calf muscle pseudohypertrophy, Increased variability in muscle fiber diameter, Intrinsic hand mus...	ORPHA:488650
Mietens Syndrome	Microcornea, Cataract, Corneal opacity, Sclerocornea	ORPHA:2557
Pseudohypoparathyroidism Type 2	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94090
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Myopathy, Scapulohumeroperoneal	Hand muscle atrophy, Skeletal muscle atrophy, Scapular winging, Facial palsy, Centrally nucleated...	OMIM:616852
Spondylo-Ocular Syndrome	Abnormal eyebrow morphology, Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Hypert...	ORPHA:85194
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Epicanthus, Cataract, Corneal opacity, Chorioretinal dysplasia, Aggressive be...	OMIM:152950
Retinal Capillary Malformation	Subretinal exudate, Central fundal arteriolar microaneurysms, Vitreous floaters, Epiretinal membr...	ORPHA:71213
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Epicanthus, Unsteady gait, Blue irides, Dysmetria, Hand tremor, Upslanted palpebral fissure, Deep...	ORPHA:3041
Harel-Yoon Syndrome	Corneal opacity, Ataxia, Inability to walk, Optic atrophy, Developmental cataract, Upslanted palp...	OMIM:617183
Nemaline Myopathy 5B, Autosomal Recessive, Childhood-Onset	Hip contracture, Elbow contracture, Ankle contracture, Limb-girdle muscle weakness, Rhabdomyolysi...	OMIM:620386
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 10	Skeletal muscle atrophy, Fatty replacement of skeletal muscle, Muscular dystrophy, Increased vari...	OMIM:608807
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Telecanthus, Hypertelorism, Proptosis, Absent extraocular muscles, Abnormally pro...	OMIM:109120
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Abnormality of the orbital region,...	ORPHA:42775
Acrofrontofacionasal Dysostosis	Hypertelorism, Brushfield spots, Hypopigmented skin patches, Eyelid coloboma, Downslanted palpebr...	ORPHA:1784
Methionine Malabsorption Syndrome	White hair, Blue irides	OMIM:250900
Morquio Syndrome C	Corneal opacity	OMIM:252300
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Congenital Myopathy 5 With Cardiomyopathy	Sudden cardiac death, Centrally nucleated skeletal muscle fibers, Increased variability in muscle...	OMIM:611705
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Iris coloboma, Sclerocornea	ORPHA:77298
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Uveal ectropion, Abnorm...	ORPHA:98973
Waardenburg Syndrome, Type 1	Telecanthus, White eyelashes, White eyebrow, Partial albinism, Hypertelorism, Synophrys, Blue iri...	OMIM:193500
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Oculocutaneous Albinism Type 4	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79435
Charcot-Marie-Tooth Disease, Axonal, Mitochondrial Form, 1	Distal lower limb amyotrophy, Thenar muscle atrophy, Mitochondrial hypertrophy, Decreased activit...	OMIM:500013
Vitreoretinopathy, Neovascular Inflammatory	Retinal detachment, Peripheral retinal neovascularization, Large hyperpigmented retinal spots, Uv...	OMIM:193235
Nemaline Myopathy 2	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Mitochondrial depletion, Slender build, T...	OMIM:256030
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Alpha-B Crystallin-Related Late-Onset Myopathy	Muscle fiber inclusion bodies, Autophagic vacuoles, Limb-girdle muscle weakness, Accumulation of ...	ORPHA:399058
Cholestasis, Progressive Familial Intrahepatic, 10	Conjugated hyperbilirubinemia, Hypoalbuminemia, Increased serum bile acid concentration, Hypercho...	OMIM:619868
Peroxisome Biogenesis Disorder 2A (Zellweger)	Epicanthus, Cataract, Palpebral edema, Hypertelorism, Brushfield spots, Optic nerve dysplasia, Up...	OMIM:214110
Donnai-Barrow Syndrome	Retinal detachment, Retinal dystrophy, Hypertelorism, Proptosis, Downslanted palpebral fissures, ...	ORPHA:2143
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Microcoria, Congenital	Microcoria, Miosis, Hypoplasia of the iris dilator muscle	OMIM:156600
Crouzon Syndrome	Hypertelorism, Optic atrophy, Hypopigmented skin patches, Melanocytic nevus, Proptosis, Conjuncti...	ORPHA:207
Blue Diaper Syndrome	Hyperphosphatemia, Hypercalcemia	ORPHA:94086
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Hermansky-Pudlak Syndrome 11	Hypoplasia of the fovea, Fair hair, Epistaxis, Albinism, Ocular albinism, Melanocytic nevus, Iris...	OMIM:619172
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Drus...	ORPHA:67042
Myopathy, Congenital, With Fiber-Type Disproportion, X-Linked	Short stature, Facial palsy, Myopathy, Type 1 fibers relatively smaller than type 2 fibers, Decre...	OMIM:300580
Alexander Disease	Microcoria, Ataxia, Dysmetria	OMIM:203450
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Piebaldism	Hypopigmentation of hair, White eyelashes, White eyebrow, Ataxia, Synophrys, Piebaldism, Hypopigm...	ORPHA:2884
Albinism, Oculocutaneous, Type Vii	Iris transillumination defect, Albinism	OMIM:615179
Chromosome 5P13 Duplication Syndrome	Epicanthus, Blepharophimosis, Hypertelorism, Hypotelorism, Upslanted palpebral fissure, Self-inju...	OMIM:613174
Winchester Syndrome	Corneal opacity	OMIM:277950
Trisomy 9P	Deeply set eye, Abnormal pupil morphology, Downslanted palpebral fissures, Hypertelorism	ORPHA:236
Woolly Hair Nevus	Patchy hypopigmentation of hair, Heterochromia iridis, Persistent pupillary membrane	ORPHA:79414
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Melena, Opacification of the corneal stroma, Corneal neovasculari...	OMIM:158310
Hermansky-Pudlak Syndrome 8	Hypoplasia of the fovea, Optic disc pallor, Epistaxis, Albinism, Excessive bleeding after a venip...	OMIM:614077
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Microcornea, Iris transillumination defect, Shallow orbits, Generalized hypopigmentation	OMIM:617306
Craniotubular Dysplasia, Ikegawa Type	Epicanthus, Optic neuropathy, Hypertelorism, Optic atrophy, Proptosis, Optic nerve compression, M...	OMIM:619727
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Ectopia pupillae, Corneal dystrophy, Corneal guttata	OMIM:609141
Malaria	Hyperbilirubinemia, Elevated circulating C-reactive protein concentration	ORPHA:673
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Angelman Syndrome Due To A Point Mutation	Hypopigmentation of hair, Broad-based gait, Ataxia, Abnormal eating behavior, Tongue thrusting, I...	ORPHA:411511
Myasthenic Syndrome, Congenital, 2A, Slow-Channel	Skeletal muscle atrophy, Facial palsy, Flexion contracture, Knee flexion contracture, Myopathy, T...	OMIM:616313
Noonan Syndrome 13	Epicanthus, Highly arched eyebrow, Aggressive behavior, Almond-shaped palpebral fissure, Hypertel...	OMIM:619087
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy...	ORPHA:2119
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 27	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Shoulder flexion contracture, A...	OMIM:619566
Retinopathy Of Prematurity	Tractional retinal detachment, Retinal arteriolar tortuosity, Abnormal retinal vascular morpholog...	ORPHA:90050
Infantile Nephropathic Cystinosis	Pigmentary retinopathy, Abnormal cornea morphology, Polydipsia, Corneal crystals	ORPHA:411629
Yemenite Deaf-Blind Hypopigmentation Syndrome	Patchy hypo- and hyperpigmentation, Microcornea, Numerous pigmented freckles, White forelock, Cho...	OMIM:601706
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Chorioretinal coloboma, Ptosis	OMIM:300915
Free Sialic Acid Storage Disease	Ataxia, Abnormality of skin pigmentation, Athetosis, Gait disturbance, Iris hypopigmentation	ORPHA:834
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Waardenburg Syndrome, Type 2E	White eyelashes, White eyebrow, Ocular albinism, Blue irides, Hypopigmented skin patches, Hypopla...	OMIM:611584
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Corneal opacity, Hypertelorism, Keratitis, Synophrys, Conjunctivitis, Long palpebral fissure, Dow...	OMIM:602562
Emery-Dreifuss Muscular Dystrophy 5, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Proximal amyotrophy, Myopathy, Musc...	OMIM:612999
Tangier Disease	Ectropion, Myocardial infarction, Opacification of the corneal stroma, Cicatricial ectropion	OMIM:205400
Ermine Phenotype	Hypopigmentation of hair, Ocular albinism, Hypopigmented skin patches, Astigmatism, Irregular hyp...	ORPHA:999
Hyperbilirubinemia, Shunt, Primary	Hyperbilirubinemia	OMIM:237800
Intermediate Uveitis	Anterior uveitis, Cataract, Vitreous haze, Band keratopathy, Epiretinal membrane, Vitreous floate...	ORPHA:279914
Microcephaly 5, Primary, Autosomal Recessive	Attention deficit hyperactivity disorder, Proptosis, Highly arched eyebrow	OMIM:608716
Angelman Syndrome	Keratoconus, Optic disc pallor, Hyperactivity, Broad-based gait, Iris hypopigmentation, Ataxia, A...	ORPHA:72
Microcephalic Osteodysplastic Dysplasia, Saul-Wilson Type	Cataract, Proptosis	ORPHA:85172
Myasthenic Syndrome, Congenital, 14	Scapular winging, Centrally nucleated skeletal muscle fibers, Limb-girdle muscle weakness, Ragged...	OMIM:616228
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Congenital Myopathy 8	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Abno...	OMIM:618654
Axenfeld-Rieger Syndrome, Type 2	Telecanthus, Hypertelorism, Microcornea, Opacification of the corneal stroma, Anterior chamber sy...	OMIM:601499
Axenfeld-Rieger Syndrome, Type 3	Hypertelorism, Hypoplasia of the iris, Ectopia pupillae, Posterior synechiae of the anterior cham...	OMIM:602482
Chromosome 6Pter-P24 Deletion Syndrome	Epicanthus, Telecanthus, Hypertelorism, Telangiectasia, Pigmentary retinopathy, Axenfeld anomaly,...	OMIM:612582
Charcot-Marie-Tooth Disease, Axonal, Type 2Cc	Ragged-red muscle fibers, Lower limb amyotrophy, Upper limb amyotrophy, Upper limb muscle weaknes...	OMIM:616924
Apolipoprotein A-I Deficiency	Xanthelasma, Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Hypophosphatemic Rickets, Autosomal Recessive, 1	Hypophosphatemic rickets, Hypophosphatemia	OMIM:241520
Noonan Syndrome 4	Abnormal bleeding, Epicanthus, Hypertelorism, Sparse eyebrow, Bilateral ptosis, Blue irides, Pulm...	OMIM:610733
Pituitary Apoplexy	Ptosis, Hypertension, Hypotension, Mydriasis	ORPHA:95613
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Prolonged QRS complex, Myocardial infarction, Diffuse alveola...	ORPHA:90068
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Retinoschisis 1, X-Linked, Juvenile	Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Macular atrophy, Mizuo p...	OMIM:312700
Reducing Body Myopathy, X-Linked 1A, Severe, With Infantile Or Early Childhood Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300717
Distal Deletion 6P	Posterior embryotoxon, Epicanthus, Corneal opacity, Hypertelorism, Hypoplasia of the iris, Anteri...	ORPHA:96125
Trim32-Related Limb-Girdle Muscular Dystrophy R8	Proximal muscle weakness in lower limbs, Myopathy, Increased variability in muscle fiber diameter	ORPHA:1878
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Hermansky-Pudlak Syndrome 5	Hypoplasia of the fovea, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Iris tran...	OMIM:614074
Cardiomyopathy, Dilated, 3B	Increased variability in muscle fiber diameter	OMIM:302045
Wolf-Hirschhorn Syndrome	Epicanthus, Ataxia, Sclerocornea, Highly arched eyebrow, Hypertelorism, Optic atrophy, Proptosis,...	ORPHA:280
Spastic Paraplegia Type 7	Ragged-red muscle fibers, Abnormal mitochondrial morphology, Upper limb muscle weakness, Lower li...	ORPHA:99013
Combined Oxidative Phosphorylation Deficiency 28	Fatigue, Abdominal pain, Decreased activity of mitochondrial complex IV, Ragged-red muscle fibers...	OMIM:616794
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Dystonia, Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal...	OMIM:175780
Keratoconus Posticus Circumscriptus	Keratoconus, Central posterior corneal opacity, Hypertelorism	OMIM:244600
Multicentric Carpotarsal Osteolysis Syndrome	Inability to walk, Hypertension, Proptosis, Corneal opacity	OMIM:166300
Oculopharyngodistal Myopathy 3	Internally nucleated skeletal muscle fibers, Increased variability in muscle fiber diameter, Dist...	OMIM:619473
Noonan Syndrome 9	Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Prolonged prothrombin time, Pulmon...	OMIM:616559
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Inability to walk, Cataract, Optic atrophy, Proptosis	OMIM:617481
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Waardenburg Syndrome Type 1	Telecanthus, White eyelashes, White eyebrow, Hypopigmentation of hair, Synophrys, White hair, Hyp...	ORPHA:894
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 15	Myopathy, Increased variability in muscle fiber diameter, Centrally nucleated skeletal muscle fibers	OMIM:618992
Intellectual Developmental Disorder, Autosomal Dominant 26	Epicanthus, Thick eyebrow, Hyperactivity, Highly arched eyebrow, Hypertelorism, Upslanted palpebr...	OMIM:615834
Cat-Eye Syndrome (Type I)	Downslanted palpebral fissures, Iris coloboma	DECIPHER:42
Pseudopseudohypoparathyroidism	Hyperphosphatemia, Hypocalcemia	ORPHA:79445
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Hyperactivity, Hypopigmentation of hair, Ataxia, Broad-based gait, Abnormal eating behavior, Trem...	ORPHA:98794
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Al-Gazali Syndrome	Corneal opacity, Sclerocornea	OMIM:609465
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Optic atrophy, Irritability, Proptosis, Mydriasis	OMIM:259720
Hypocalcemia, Autosomal Dominant 2	Abnormal blood phosphate concentration, Hypocalcemia	OMIM:615361
Autism Spectrum Disorder Due To Auts2 Deficiency	Epicanthus, Hyperactivity, Highly arched eyebrow, Hypertelorism, Bilateral ptosis, Repetitive com...	ORPHA:352490
Adult-Onset Nemaline Myopathy	Flexion contracture, Increased muscle lipid content, Upper limb muscle weakness, Myopathy, Myalgi...	ORPHA:171442
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis	OMIM:613834
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Arrhythmia	ORPHA:2151
Wagro Syndrome	Cataract, Corneal opacity, Aggressive behavior, Polyphagia, Hypertension, Agitation, Low frustrat...	OMIM:612469
Houge-Janssens Syndrome 3	Epicanthus, Hypertelorism, Self-injurious behavior, Proptosis, Attention deficit hyperactivity di...	OMIM:618354
Griscelli Syndrome	Abnormal eyebrow morphology, Ataxia, Abnormal eyelash morphology, Silver-gray hair, White hair, H...	ORPHA:381
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Hyperactivity, Keratitis, Corneal scarring, R...	OMIM:256800
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Broad-based gait, Tongue thrusting, Gait imbalance, Dysphagia, Hypopigm...	ORPHA:98795
Edinburgh Malformation Syndrome	Brushfield spots, Synophrys	ORPHA:1895
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 5	Skeletal muscle atrophy, Calf muscle pseudohypertrophy, Flexion contracture, Muscle fiber necrosi...	OMIM:253700
Oculoectodermal Syndrome	Epicanthus, Hyperactivity, Transient ischemic attack, Chorioretinal atrophy, Hyperpigmented strea...	OMIM:600268
Sturge-Weber Syndrome	Conjunctival telangiectasia, Retinal detachment, Corneal dystrophy, Pulmonary embolism, Abnormal ...	ORPHA:3205
Bethlem Myopathy 2	Myopathy, Scapular winging, Flexion contracture, Increased variability in muscle fiber diameter	OMIM:616471
Usher Syndrome Type 2	Depression, Cataract, Ataxia, Iris hypopigmentation	ORPHA:231178
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, Gait ataxia, Upslanted palpebra...	ORPHA:496790
Hermansky-Pudlak Syndrome	Abnormal bleeding, Gastrointestinal hemorrhage, Hypopigmentation of hair, Cataract, Partial albin...	ORPHA:79430
Pelvis-Shoulder Dysplasia	Optic disc coloboma, Iris coloboma, Opacification of the corneal stroma	OMIM:169550
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Lagophthalmos, Bilateral ptosis, Inability to walk, O...	ORPHA:404454
Pomt1-Related Limb-Girdle Muscular Dystrophy R11	Centrally nucleated skeletal muscle fibers, Abdominal pain, Limb-girdle muscle weakness, Myopathy...	ORPHA:86812
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Downslanted palpebral fissures, Limbal d...	ORPHA:2969
Combined Oxidative Phosphorylation Deficiency 8	Decreased activity of mitochondrial complex I, Increased variability in muscle fiber diameter, Fa...	OMIM:614096
Congenital Microcoria	Abnormal pupillary light reflex, Developmental cataract, Corneal stromal edema, Iris transillumin...	ORPHA:566
Angelman Syndrome	Hyperactivity, Broad-based gait, Ataxia, Blue irides, Limb tremor, Deeply set eye, Progressive ga...	OMIM:105830
Muscular Dystrophy, Congenital Hearing Loss, And Ovarian Insufficiency Syndrome	Short stature, Centrally nucleated skeletal muscle fibers, Mitochondrial hypertrophy, Failure to ...	OMIM:619518
Myopathy With Myalgia, Increased Serum Creatine Kinase, And With Or Without Episodic Rhabdomyolysis	Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Rhabdo...	OMIM:620138
Congenital Myopathy 18	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Increased e...	OMIM:620246
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Sclerocornea, Junctional ectopic tachycardia, Pigmentary retinopathy, Peters anomaly, H...	OMIM:309801
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 15	Myopathy, Limb-girdle muscular dystrophy, Increased variability in muscle fiber diameter, Rimmed ...	OMIM:612937
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Abnormality of retinal pigmentation, Palpebral edema, Ectopia lentis, Iris coloboma, Ptosis	ORPHA:1259
Barth Syndrome	Abnormal mitochondrial morphology	ORPHA:111
Polycystic Liver Disease 1 With Or Without Kidney Cysts	Increased total bilirubin	OMIM:174050
Reducing Body Myopathy, X-Linked 1B, With Late Childhood Or Adult Onset	Increased variability in muscle fiber diameter, Flexion contracture, Muscle fiber intracytoplasmi...	OMIM:300718
Myopathy, Myofibrillar, 9, With Early Respiratory Failure	Scapular winging, Quadriceps muscle weakness, Achilles tendon contracture, Increased variability ...	OMIM:603689
Autoimmune Hypoparathyroidism	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	ORPHA:36913
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Hypertelorism, Band keratopathy, Hypoplasia of the iris, Anterior synechiae of...	OMIM:614195
Citrullinemia, Type Ii, Neonatal-Onset	Hypertyrosinemia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Conjugated hyper...	OMIM:605814
Juvenile Nephropathic Cystinosis	Abnormal cornea morphology, Polydipsia, Hypovolemia, Corneal crystals	ORPHA:411634
Cardiomyopathy, Dilated, 1X	Calf muscle hypertrophy, Increased variability in muscle fiber diameter	OMIM:611615
Scorpion Envenomation	Bundle branch block, Purpura, Tachycardia, Restlessness, Ataxia, Cardiac conduction abnormality, ...	ORPHA:466677
Trisomy 12P	Epicanthus, Hypertelorism, Aplasia/Hypoplasia of the iris, Proptosis, Thick eyebrow	ORPHA:1699
Oculocerebral Hypopigmentation Syndrome, Cross Type	Hypopigmentation of hair, Cataract, Corneal opacity, Ectropion, Ataxia, Ocular albinism, Athetosi...	ORPHA:2719
Kid Syndrome	Sparse eyelashes, Keratitis, Posterior blepharitis, Corneal erosion, Sparse eyebrow, Keratoconjun...	ORPHA:477
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Congenital Myopathy 3 With Rigid Spine	Failure to thrive, Decreased body weight, Short stature, Facial palsy, Centrally nucleated skelet...	OMIM:602771
Microphthalmia With Linear Skin Defects Syndrome	Abnormality of retinal pigmentation, Tricuspid regurgitation, Corneal opacity, Chorioretinal dysp...	ORPHA:2556
Familial Dysautonomia	Orthostatic hypotension, Tachycardia, Corneal opacity, Ataxia, Abnormal pupil morphology, Corneal...	ORPHA:1764
Frontoocular Syndrome	Epicanthus, Hypotelorism, Upslanted palpebral fissure, Proptosis, Pulmonic stenosis, Blepharophim...	OMIM:605321
Baraitser-Winter Cerebrofrontofacial Syndrome	Epicanthus, Telecanthus, Palpebral edema, Transient ischemic attack, Highly arched eyebrow, Hyper...	ORPHA:2995
Emery-Dreifuss Muscular Dystrophy 7, Autosomal Dominant	Skeletal muscle atrophy, Muscular dystrophy, Increased variability in muscle fiber diameter, Prox...	OMIM:614302
Oculocutaneous Albinism Type 1B	Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,...	ORPHA:79434
Bickerstaff Brainstem Encephalitis	Anisocoria, Ptosis, Ataxia, Mydriasis	ORPHA:79138
Anterior Segment Dysgenesis 1	Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior polar cataract, Ocula...	OMIM:107250
Albinism-Deafness Syndrome	Partial albinism, Piebaldism, Hypopigmented skin patches, Irregular hyperpigmentation, Heterochro...	ORPHA:998
Congenital Myopathy 6 With Ophthalmoplegia	Scapular winging, Muscle fiber inclusion bodies, Myopathy, Congenital contracture, Type 1 muscle ...	OMIM:605637
Stickler Syndrome Type 1	Retinal detachment, Cataract, Proptosis, Abnormal vitreous humor morphology	ORPHA:90653
Waardenburg Syndrome, Type 4C	White eyelashes, White eyebrow, Blue irides, Hypopigmented skin patches, Premature graying of hai...	OMIM:613266
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Warburg-Cinotti Syndrome	Epicanthus, Retinal dystrophy, Symblepharon, Narrow palpebral fissure, Limbal stem cell deficienc...	OMIM:618175
Alagille Syndrome	Keratoconus, Telangiectasia of the skin, Corneal dystrophy, Hypertelorism, Abnormal pupil morphol...	ORPHA:52
Glaucoma 3, Primary Congenital, E	Corneal stromal edema, Megalocornea, Increased cup-to-disc ratio	OMIM:617272
Zellweger Syndrome	Epicanthus, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Brushfield spots, Optic...	ORPHA:912
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Congenital Myopathy 20	Skeletal muscle atrophy, Scapular winging, Failure to thrive, Elbow contracture, Centrally nuclea...	OMIM:620310
Calciphylaxis	Hyperphosphatemia	ORPHA:280062
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Smith-Lemli-Opitz Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Sclerocornea, Hypertelorism, Abnormal eyelash mor...	ORPHA:818
Neurocardiofaciodigital Syndrome	Optic disc pallor, Cataract, Sclerocornea, Sparse eyebrow, Narrow palpebral fissure	OMIM:619869
Duane Retraction Syndrome	Central heterochromia, Patchy hypopigmentation of hair, Optic disc hypoplasia, Blepharophimosis, ...	ORPHA:233
Muscular Dystrophy, Limb-Girdle, Autosomal Dominant 2	Scapular winging, Autophagic vacuoles, Centrally nucleated skeletal muscle fibers, EMG: myopathic...	OMIM:608423
Childhood-Onset Nemaline Myopathy	Exercise intolerance, Scapular winging, Flexion contracture, Increased muscle lipid content, Gene...	ORPHA:171439
Congenital Myopathy 14	Hip contracture, Flexion contracture, Elbow flexion contracture, Increased variability in muscle ...	OMIM:618414
Congenital Multicore Myopathy With External Ophthalmoplegia	Skeletal muscle atrophy, Internally nucleated skeletal muscle fibers, Tibialis anterior muscle at...	ORPHA:98905
Oculomaxillofacial Dysostosis	Corneal opacity, Abnormal eyelid morphology, Abnormal eyelash morphology, Upslanted palpebral fis...	ORPHA:1794
Familial Drusen	Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid...	ORPHA:75376
Tumoral Calcinosis, Hyperphosphatemic, Familial, 3	Hyperphosphatemia, Hypercalcemia	OMIM:617994
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Lacrimal duct atresia, Iris coloboma	ORPHA:139450
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Iris coloboma	OMIM:604219
Oculocutaneous Albinism Type 1A	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv...	ORPHA:79431
Hermansky-Pudlak Syndrome 7	Prolonged bleeding time, Epistaxis, Albinism, Post-partum hemorrhage, Ocular albinism, Menorrhagi...	OMIM:614076
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Epicanthus, Telecanthus, Ataxia, Optic ...	OMIM:267750
Trichinellosis	Retinal hemorrhage, Central retinal artery occlusion, Anisocoria, Irritability, Conjunctivitis, A...	ORPHA:863
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Bartsocas-Papas Syndrome 2	Corneal opacity, Antecubital pterygium, Ankyloblepharon, Popliteal pterygium, Axillary pterygium	OMIM:619339
Griscelli Syndrome Type 2	Hypopigmentation of hair, Partial albinism, Premature graying of hair, Petechiae, Iris hypopigmen...	ORPHA:79477
Bile Acid Synthesis Defect, Congenital, 5	Increased serum bile acid concentration, Increased total iron binding capacity, Hyperbilirubinemia	OMIM:616278
Lecithin:Cholesterol Acyltransferase Deficiency	Corneal arcus	OMIM:245900
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Proptosis, Corneal opacity, Hypertelorism	OMIM:618961
Microphthalmia, Isolated, With Coloboma 7	Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Cystinosis, Nephropathic	Hypopigmentation of hair, Oral-pharyngeal dysphagia, Retinal pigment epithelial mottling, Dysphag...	OMIM:219800
Arthrogryposis Multiplex Congenita 3, Myogenic Type	Small for gestational age, Centrally nucleated skeletal muscle fibers, Cryptorchidism, Flexion co...	OMIM:618484
Congenital Fibrosis Of Extraocular Muscles	Torticollis, Cataract, Miosis, Optic nerve hypoplasia, Levator palpebrae superioris atrophy, Anis...	ORPHA:45358
Acrodysostosis 2 With Or Without Hormone Resistance	Red hair, Hyperactivity, Fair hair, Blue irides	OMIM:614613
Congenital Myopathy 10A, Severe Variant	Facial palsy, Camptodactyly of finger, Increased variability in muscle fiber diameter, Muscle fib...	OMIM:614399
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae	OMIM:156900
Myopathy, Myofibrillar, 7	Skeletal muscle atrophy, Multiple joint contractures, Increased Z-disc width, Facial palsy, Shoul...	OMIM:617114
Myopathy, Autosomal Recessive, With Rigid Spine And Distal Joint Contractures	Camptodactyly of finger, Ankle flexion contracture, Centrally nucleated skeletal muscle fibers, C...	OMIM:617072
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 25	Exercise intolerance, Skeletal muscle atrophy, Centrally nucleated skeletal muscle fibers, Limb-g...	OMIM:616812
Biliary Atresia, Extrahepatic	Unconjugated hyperbilirubinemia, Hyperbilirubinemia, Increased total bilirubin	OMIM:210500
Hypercholesterolemia, Familial, 3	Xanthelasma, Corneal arcus	OMIM:603776
Pediatric-Onset Graves Disease	Hyperactivity, Atrial fibrillation, Abnormal eyelid morphology, Keratitis, Congestive heart failu...	ORPHA:525731
Oculopharyngeal Muscular Dystrophy	Myopathy, Rimmed vacuoles, Ragged-red muscle fibers, Abnormal muscle fiber morphology	ORPHA:270
Multiminicore Myopathy	Proximal muscle weakness in upper limbs, Short stature, Abnormal muscle fiber morphology, Proxima...	ORPHA:598
Pseudohypoparathyroidism, Type Ic	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemia	OMIM:612462
Creatine Phosphokinase, Elevated Serum	Fatigue, Abnormal muscle fiber morphology, Myopathy, Inflammatory myopathy, Myalgia, Muscular dys...	OMIM:123320
Cholestasis, Benign Recurrent Intrahepatic, 1	Conjugated hyperbilirubinemia, Increased serum bile acid concentration	OMIM:243300
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Hypertension, Leukocoria, Telangiectasia	OMIM:219250
Piebald Trait	Absent pigmentation of the ventral chest, Partial albinism, Piebaldism, White forelock, Heterochr...	OMIM:172800
Hypercholesterolemia, Familial, 1	Xanthelasma, Corneal arcus	OMIM:143890
Oculopharyngodistal Myopathy 4	Autophagic vacuoles, Fatty replacement of skeletal muscle, Increased variability in muscle fiber ...	OMIM:619790
Thrombophilia Due To Protein C Deficiency, Autosomal Recessive	Pulmonary embolism, Vitreous hemorrhage, Purpura	OMIM:612304
Glycogen Storage Disease Ixd	Exercise intolerance, Skeletal muscle atrophy, Glycogen accumulation in muscle fiber lysosomes, Q...	OMIM:300559
Congenital Myopathy 2B, Severe Infantile, Autosomal Recessive	Weakness of facial musculature, Increased endomysial connective tissue, Increased variability in ...	OMIM:620265
Waardenburg Syndrome	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Synophrys, Hypopigmented skin...	ORPHA:3440
Oculodentodigital Dysplasia, Autosomal Recessive	Epicanthus, Cataract, Sparse eyelashes, Telecanthus, Microcornea, Deeply set eye, Persistent pupi...	OMIM:257850
Albinism, Oculocutaneous, Type Ia	Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Absent skin pigmentation, White hair...	OMIM:203100
Myopathy With Lactic Acidosis, Hereditary	Exercise intolerance, Skeletal muscle atrophy, Abnormal iron deposition in mitochondria, Rhabdomy...	OMIM:255125
Developmental And Epileptic Encephalopathy 48	Optic disc pallor, Proptosis, Long eyelashes, Long palpebral fissure, Rod-cone dystrophy	OMIM:617276
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma	OMIM:601356
Severe X-Linked Mitochondrial Encephalomyopathy	Skeletal muscle atrophy, Increased variability in muscle fiber diameter	ORPHA:238329
Hermansky-Pudlak Syndrome 4	Abnormal bleeding, Hypoplasia of the fovea, Epistaxis, Albinism, Ocular albinism, Menorrhagia, Br...	OMIM:614073
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Ataxia, White hair, Ocular albinism, Generalized hypopigmentation, Iris hypopigmentation	ORPHA:2720
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Corneal opacity, Dilated cardiomyopathy, Developmental cataract, Bradycardia, Hypertrophic cardio...	OMIM:618815
Vitamin D-Dependent Rickets, Type 3	Hypocalcemia, Hypophosphatemia	OMIM:619073
Frias Syndrome	Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:609640
Macular Degeneration, Age-Related, 1	Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg...	OMIM:603075
Meckel Syndrome	Cataract, Abnormal chorioretinal morphology, Sclerocornea, Hypertelorism, Optic atrophy, Microcor...	ORPHA:564
Hepatic Veno-Occlusive Disease	Increased total bilirubin	ORPHA:890
Neurodevelopmental Disorder With Absent Language And Variable Seizures	Broad-based gait, Upslanted palpebral fissure, Self-injurious behavior, Deeply set eye, Proptosis...	OMIM:618707
Vitamin K Antagonist Embryofetopathy	Cataract, Optic atrophy, Proptosis, Hypertelorism	ORPHA:1914
Muscular Dystrophy, Limb-Girdle, Autosomal Recessive 23	Proximal muscle weakness in upper limbs, Internally nucleated skeletal muscle fibers, Elbow flexi...	OMIM:618138
Myopathy With Rimmed Ubiquitin-Positive Autophagic Vacuolation, Autosomal Dominant	Scapular winging, Centrally nucleated skeletal muscle fibers, Shoulder girdle muscle weakness, Mu...	OMIM:601846
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Bidirectional shunt, Elevated pulmonary artery pressure, Mydriasis	OMIM:619351
Megaloblastic Anemia, Folate-Responsive	Increased circulating ferritin concentration, Hyperbilirubinemia, Hyperhomocystinemia	OMIM:601775
Genetic Recurrent Myoglobinuria	Highly elevated creatine kinase, Hyperphosphatemia, Hyperkalemia, Hypocalcemia	ORPHA:99845
Peroxisome Biogenesis Disorder 1A (Zellweger)	Optic disc pallor, Epicanthus, Cataract, Hypertelorism, Brushfield spots, Unsteady gait, Upslante...	OMIM:214100
Attenuated Chédiak-Higashi Syndrome	Epistaxis, Ocular albinism, Gingival bleeding, Generalized hypopigmentation, Bruising susceptibility	ORPHA:352723
Microphthalmia, Isolated, With Coloboma 3	Cataract, Iris coloboma	OMIM:610092
Hypercholesterolemia, Familial, 2	Xanthelasma, Corneal arcus	OMIM:144010
Aortic Aneurysm, Familial Thoracic 4	Aortic regurgitation, Abnormal iris pigmentation, Abnormal left ventricular function	OMIM:132900
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Telecanthus, Cataract, Corneal opacity, Hypertelorism, Abnormal eyelash morph...	ORPHA:2399
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Optic atrophy, Ectopia pupillae, Astigmatism, Unilateral narrow palpebral fissure	OMIM:618727
Isolated Polycystic Liver Disease	Increased total bilirubin	ORPHA:2924
Charcot-Marie-Tooth Disease Type 1E	Inability to walk, Abnormal pupil morphology, Anisocoria, Steppage gait, Gait disturbance, Gait i...	ORPHA:90658
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa	Downslanted palpebral fissures, Iris coloboma, Hypertelorism	OMIM:155145
Cherubism	Proptosis, Optic atrophy	ORPHA:184
Proboscis Lateralis	Abnormal morphology of bony orbit of skull, Microcornea, Eyelid coloboma, Abnormality of the ocul...	ORPHA:141099
Hypercalcemia, Infantile, 2	Hypercalcemia, Hypophosphatemia	OMIM:616963
Plague	Abnormal bleeding, Tachycardia, Anorexia, Hematemesis, Unsteady gait, Depression, Hypotension, Ar...	ORPHA:707
Galloway-Mowat Syndrome 1	Epicanthus, Cataract, Ataxia, Hypertelorism, Optic atrophy, Hypoplasia of the iris, Opacification...	OMIM:251300
Donnai-Barrow Syndrome	Retinal detachment, Cataract, Retinal dystrophy, Hypertelorism, Hypoplasia of the iris, Proptosis...	OMIM:222448
Lacrimoauriculodentodigital Syndrome	Lacrimal gland aplasia, Absent lacrimal punctum, Increased corneal thickness, Hypoplasia of the l...	ORPHA:2363
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Telecanthus	ORPHA:1064
Myopathy, Centronuclear, 1	Proximal muscle weakness in upper limbs, Facial palsy, Centrally nucleated skeletal muscle fibers...	OMIM:160150
Congenital Myopathy 1B, Autosomal Recessive	Skeletal muscle atrophy, Facial palsy, Centrally nucleated skeletal muscle fibers, Increased vari...	OMIM:255320
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Dysphagia, Aggressive behavior	ORPHA:289483
Peroxisome Biogenesis Disorder 5A (Zellweger)	Aortic regurgitation, Epicanthus, Cataract, Palpebral edema, Tricuspid regurgitation, Hypertelori...	OMIM:614866
Scheie Syndrome	Aortic regurgitation, Aortic valve stenosis, Corneal opacity, Retinal degeneration	OMIM:607016
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria, Dysphagia	OMIM:300858
Muscular Dystrophy, Congenital, Davignon-Chauveau Type	Angulated muscle fibers, Centrally nucleated skeletal muscle fibers, Muscular dystrophy, Increase...	OMIM:617066
Atelis Syndrome 2	Epicanthus, Remnants of the hyaloid vascular system, Dysmetria, Developmental cataract, Supravalv...	OMIM:620185
Gamma-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R5	Scapular winging, Calf muscle pseudohypertrophy, Achilles tendon contracture, Upper limb muscle w...	ORPHA:353
Hemolytic Anemia Due To Red Cell Pyruvate Kinase Deficiency	Increased circulating ferritin concentration, Elevated transferrin saturation, Increased serum ir...	ORPHA:766
Tibial Muscular Dystrophy, Tardive	EMG: myopathic abnormalities, Muscular dystrophy, Rimmed vacuoles	OMIM:600334
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy	Short stature, Motheaten muscle fibers, Muscular dystrophy, Increased variability in muscle fiber...	OMIM:226670
Combined Oxidative Phosphorylation Deficiency 18	Decreased activity of mitochondrial complex I, Skeletal muscle atrophy, Increased mitochondrial n...	OMIM:615578
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Telecanthus, Cataract, Epicanthus, Purpura, Abnormal eyelid morpholo...	ORPHA:567
Albinism, Ocular, Type I	Hypoplasia of the fovea, Giant melanosomes in melanocytes, Ocular albinism, Depigmented fundus	OMIM:300500
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Hypophosphatemic Bone Disease	Hypophosphatemia	OMIM:146350
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Epicanthus, Ataxia, Hypertelorism, Abnormal repetitive mannerisms, Hypoplasia of th...	ORPHA:2479
Van Den Ende-Gupta Syndrome	Blepharophimosis, Abnormal eyebrow morphology, Sclerocornea	OMIM:600920
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Entropion, Telangiectasia of the skin, Hypermelanotic macu...	ORPHA:910
Teebi Hypertelorism Syndrome 2	Hypertelorism, Upper eyelid coloboma, Proptosis, Attention deficit hyperactivity disorder, Thick ...	OMIM:619736
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Neonatal hyperbilirubinemia	ORPHA:3363
Laing Early-Onset Distal Myopathy	Toe extensor amyotrophy, Abnormality of the calf musculature, Proximal muscle weakness in lower l...	ORPHA:59135
Muscular Dystrophy, Congenital, Megaconial Type	Facial palsy, Mitochondrial hypertrophy, Myopathy, Muscular dystrophy, Increased endomysial conne...	OMIM:602541
Peripheral Neuropathy-Myopathy-Hoarseness-Hearing Loss Syndrome	Fatty replacement of skeletal muscle, Myopathy, Increased variability in muscle fiber diameter, E...	ORPHA:397744
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Hyperphosphatemia, Hypocalcemia, Hypocalcemic seizures	OMIM:241410
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
Congenital Muscular Dystrophy-Respiratory Failure-Skin Abnormalities-Joint Hyperlaxity Syndrome	Multiple joint contractures, Centrally nucleated skeletal muscle fibers, Overweight, Cryptorchidi...	ORPHA:486815
Zebra Body Myopathy	Torticollis, Autophagic vacuoles, Facial palsy, Muscle fiber necrosis, Limb-girdle muscular dystr...	ORPHA:97240
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Calcinosis, Hyperphosphatemia	OMIM:211900
Congenital Muscular Dystrophy, Ullrich Type	Torticollis, Abnormal muscle fiber morphology, Flexion contracture, Elbow flexion contracture, Kn...	ORPHA:75840
Chediak-Higashi Syndrome	Spontaneous, recurrent epistaxis, Hypopigmentation of hair, Ataxia, Tremor, Silver-gray hair, Ocu...	OMIM:214500
Non-Syndromic Bicoronal Craniosynostosis	Proptosis, Hypertelorism	ORPHA:35099
Pseudohypoparathyroidism, Type Ia	Hypocalcemic tetany, Hyperphosphatemia	OMIM:103580
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Mucolipidosis Type Iii	Corneal opacity	ORPHA:577
Sialidosis Type 2	Tremor, Abnormal macular morphology, Corneal opacity, Ataxia	ORPHA:87876
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Skeletal muscle atrophy, Proximal muscle weakness in upper limbs, Proximal muscle weakness in low...	OMIM:613954
1Q41Q42 Microdeletion Syndrome	Upslanted palpebral fissure, Deeply set eye, Abnormality iris morphology, Hypotelorism	ORPHA:250999
Bile Acid Conjugation Defect 1	Conjugated hyperbilirubinemia	OMIM:619232
Oculocutaneous Albinism Type 5	Hypoplasia of the fovea, Ocular albinism, Abnormal fundus morphology	ORPHA:370091
Leptospirosis	Papilledema, Pericarditis, First degree atrioventricular block, Anorexia, Retinal hemorrhage, Uve...	ORPHA:509
Lipoyltransferase 1 Deficiency	Hyperglutaminemia, Hyperprolinemia, Increased total bilirubin	OMIM:616299
Developmental And Epileptic Encephalopathy 75	Optic disc pallor, Hypertelorism, Optic atrophy, Upslanted palpebral fissure, Cardiomyopathy, Pro...	OMIM:618437
Neuroocular Syndrome	Synophrys, Lens coloboma, Microcornea, Deeply set eye, Iris coloboma, Hooded upper eyelid, Hypopl...	OMIM:619539
Pontocerebellar Hypoplasia, Type 3	Long palpebral fissure, Optic disc pallor, Proptosis, Optic atrophy	OMIM:608027
Microphthalmia, Syndromic 3	Optic nerve aplasia, Cataract, Optic nerve hypoplasia, Sclerocornea	OMIM:206900
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyelashes, Corneal opacity, Curly eyelashes, Sparse eyebrow, Blepharitis	OMIM:602400
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Opacification of the corneal stroma	OMIM:215250
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Ataxia, Anisocoria, Dysphagia, Ptosis	OMIM:615510
Prader-Willi Syndrome Due To Translocation	Hypopigmentation of hair, Hypertelorism, Almond-shaped palpebral fissure, Abnormal repetitive man...	ORPHA:177907
Hermansky-Pudlak Syndrome 6	Abnormal bleeding, Prolonged bleeding time, Epistaxis, Albinism, Ocular albinism, Absent foveal r...	OMIM:614075
Autoimmune Polyendocrinopathy Type 1	Cataract, Hypopigmented skin patches, Opacification of the corneal stroma	ORPHA:3453
Cholestasis-Lymphedema Syndrome	Conjugated hyperbilirubinemia, Hyperlipidemia	OMIM:214900
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy	OMIM:604278
Koolen-De Vries Syndrome	Epicanthus, Cataract, Iris hypopigmentation, Hyperactivity, Impulsivity, Hypotelorism, Upslanted ...	OMIM:610443
Tetralogy Of Fallot	Proptosis	OMIM:187500
Facial Spasm	Anisocoria	OMIM:134300
Mitochondrial Dna Depletion Syndrome 12B (Cardiomyopathic Type), Autosomal Recessive	Fatigue, Skeletal muscle atrophy, Exercise intolerance, Achilles tendon contracture, Ragged-red m...	OMIM:615418
Oculopalatocerebral Syndrome	Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Pseudo-Torch Syndrome 1	Cataract, Petechiae, Opacification of the corneal stroma, Dystonia	OMIM:251290
Juvenile Glaucoma	Optic neuropathy, Abnormality iris morphology, Retinal arterial occlusion, Retinal vein occlusion...	ORPHA:98977
Neuhauser Syndrome	Iridodonesis, Epicanthus, Ataxia, Hypertelorism, Hypoplasia of the iris, Dysphagia, Megalocornea,...	OMIM:249310
Bartsocas-Papas Syndrome	Corneal opacity, Ankyloblepharon, Popliteal pterygium, Eyelid coloboma, Sparse or absent eyelashe...	ORPHA:1234
Hurler Syndrome	Aortic regurgitation, Corneal opacity, Hypertelorism, Bilateral ptosis, Cardiomyopathy, Mitral re...	OMIM:607014
Osteoporosis-Pseudoglioma Syndrome	Waddling gait, Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Exudative...	ORPHA:2788
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Megalocornea	OMIM:251750
Muscular Dystrophy, Pseudohypertrophic, With Internalized Capillaries	Central core regions in muscle fibers, Muscular dystrophy	OMIM:159050
Hypotonia, Infantile, With Psychomotor Retardation	Myopathy, Increased variability in muscle fiber diameter, Cryptorchidism	OMIM:616816
Olmsted Syndrome 1	Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Dural Sinus Malformation	Papilledema, Ataxia, Cerebral hemorrhage, Subarachnoid hemorrhage, Cerebellar hemorrhage, Subdura...	ORPHA:97339
Congenital Myopathy 10B, Mild Variant	Elbow contracture, Fatty replacement of skeletal muscle, Achilles tendon contracture, Ragged-red ...	OMIM:620249
Yunis-Varon Syndrome	Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Renovascular hypertensio...	ORPHA:3472
Crouzon Syndrome	Hypertelorism, Keratitis, Optic atrophy, Proptosis, Conjunctivitis, Shallow orbits	OMIM:123500
Crimean-Congo Hemorrhagic Fever	Bundle branch block, Anorexia, Abnormal left ventricular function, Conjunctivitis, Ecchymosis, In...	ORPHA:99827
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Ataxia, Optic atrophy, Anisocoria, Hyperpigmentation of the skin	OMIM:231550
Myopathic Ehlers-Danlos Syndrome	Exercise intolerance, Congenital muscular torticollis, Decreased muscle mass, Multiple joint cont...	ORPHA:536516
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Mitochondrial Dna Depletion Syndrome 16 (Hepatic Type)	Conjugated hyperbilirubinemia, Hyperkalemia, Hypoalbuminemia, Increased total bilirubin	OMIM:618528
Hypermethioninemia With S-Adenosylhomocysteine Hydrolase Deficiency	Increased variability in muscle fiber diameter, Failure to thrive	OMIM:613752
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Hypophosphatemia	OMIM:193100
Combined Oxidative Phosphorylation Deficiency 31	Increased variability in muscle fiber diameter, Failure to thrive, Left ventricular noncompaction...	OMIM:617228
Congenital Myopathy 15	Fatty replacement of skeletal muscle, Increased variability in muscle fiber diameter, Type 1 musc...	OMIM:620161
Carpenter Syndrome 1	Telecanthus, Epicanthus, Optic atrophy, Microcornea, Pulmonic stenosis, Opacification of the corn...	OMIM:201000
Rh-Null, Regulator Type	Unconjugated hyperbilirubinemia	OMIM:268150
Holoprosencephaly 11	Synophrys, Proptosis, Thick eyebrow, Hypotelorism	OMIM:614226
Paget Disease Of Bone 5, Juvenile-Onset	Hydroxyprolinemia, Hyperphosphatemia, Hyperuricemia	OMIM:239000
Mucolipidosis Type Iv	Abnormality of retinal pigmentation, Corneal opacity, Ataxia, Gait disturbance, Retinopathy	ORPHA:578
Pseudohypoparathyroidism Type 1B	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:94089
Ullrich Congenital Muscular Dystrophy 2	Increased variability in muscle fiber diameter, Flexion contracture, Congenital muscular dystroph...	OMIM:616470
Ullrich Congenital Muscular Dystrophy 1	Torticollis, Reduced muscle collagen VI, Facial palsy, Slender build, Flexion contracture, Muscle...	OMIM:254090
Slc39A13-Related Spondylodysplastic Ehlers-Danlos Syndrome	Bruising susceptibility, Downslanted palpebral fissures, Proptosis	ORPHA:157965
Erythrokeratodermia Variabilis	Irregular hyperpigmentation, Cataract, Corneal opacity, Hypermelanotic macule	ORPHA:317
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Epicanthus, Highly arched eyebrow, Hypertelorism, Heart murmur, Anisocoria, Narrow palpebral fiss...	OMIM:618653
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Hypertyrosinemia, Decreased HDL cholesterol concentration, Abnormal circulating lipid concentrati...	ORPHA:247598
Ritscher-Schinzel Syndrome 4	Ataxia, Impulsivity, Aggressive behavior, Hypertelorism, Hypotelorism, Deeply set eye, Athetosis,...	OMIM:619435
Hermansky-Pudlak Syndrome 9	Hypopigmentation of the skin, Ocular albinism, Hypopigmentation of the fundus	OMIM:614171
Autosomal Recessive Cutis Laxa Type 2A	Abnormal bleeding, Ataxia, Corneal opacity, Inability to walk, Athetosis, Abnormal cornea morphol...	ORPHA:357058
Progressive External Ophthalmoplegia-Myopathy-Emaciation Syndrome	Exercise intolerance, Decreased mitochondrial number, Ragged-red muscle fibers, Myopathy, General...	ORPHA:352447
Cutis Laxa, Autosomal Recessive, Type Iiia	Cataract, Hypertelorism, Hypotelorism, Athetosis, Corneal arcus	OMIM:219150
Spherocytosis, Type 4	Hyperbilirubinemia	OMIM:612653
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Depression	ORPHA:309288
Lathosterolosis	Epicanthus, Cataract, Microcornea, Opacification of the corneal stroma, Downslanted palpebral fis...	ORPHA:46059
Oculocerebrocutaneous Syndrome	Corneal opacity, Hypertelorism, Hypopigmented skin patches, Eyelid coloboma, Iris coloboma, Ptosis	ORPHA:1647
Lateral Meningocele Syndrome	Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Iris coloboma, Ptosis	ORPHA:2789
Short Stature, Oligodontia, Dysmorphic Facies, And Motor Delay	Upslanted palpebral fissure, Posterior subcapsular cataract, Astigmatism, Proptosis	OMIM:619234
Cenani-Lenz Syndrome	Ptosis, Cataract, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ectropion	ORPHA:3258
Hypermethioninemia Due To Adenosine Kinase Deficiency	Elevated circulating creatine kinase concentration, Elevated circulating S-adenosyl-L-methionine ...	OMIM:614300
Elliptocytosis 2	Neonatal hyperbilirubinemia	OMIM:130600
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Machado-Joseph Disease	Dystonia, Ataxia, Dysphagia, Limb ataxia, Bradykinesia, Progressive cerebellar ataxia, Proptosis,...	OMIM:109150
Idiopathic Panuveitis	Cataract, Miosis, Choroidal neovascularization, Vitreous haze, Vitreous floaters, Epiretinal memb...	ORPHA:280921
Congenital Rubella Syndrome	Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal opacity	ORPHA:290
Nephronophthisis 11	Anisocoria, Polydipsia, Retinal degeneration	OMIM:613550
Hermansky-Pudlak Syndrome 1	Prolonged bleeding time, Hypopigmentation of hair, Freckles in sun-exposed areas, Epistaxis, Frec...	OMIM:203300
Sanjad-Sakati Syndrome	Hyperphosphatemia, Hypocalcemia	ORPHA:2323
Muenke Syndrome	Hypertelorism, Proptosis, Attention deficit hyperactivity disorder, Downslanted palpebral fissure...	OMIM:602849
Revesz Syndrome	Ataxia, Fine, reticulate skin pigmentation, Leukocoria, Exudative retinopathy, Megalocornea	OMIM:268130
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Marburg Hemorrhagic Fever	Abnormal bleeding, Shock, Tachycardia, Pericarditis, Anorexia, Aggressive behavior, Excessive ble...	ORPHA:99826
Tetralogy Of Fallot	Proptosis	ORPHA:3303
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Miosis, Retinal dystrophy, Macular atrophy, Corneal scarring, Bupht...	OMIM:212550
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Abnormal eyebrow morphology, Telecanthus, Hypopigmentation of hair, Ataxia, Hypopigmented skin pa...	ORPHA:163746
Mucopolysaccharidosis Type 3	Hyperactivity, Cataract, Corneal opacity, Ataxia, Aggressive behavior, Hypersexuality, Synophrys,...	ORPHA:581
Multiple Synostoses Syndrome 3	Proptosis	OMIM:612961
Ocular Albinism With Late-Onset Sensorineural Deafness	Ocular albinism	ORPHA:1000
Hijazi-Reis Syndrome	Hyperbilirubinemia	OMIM:301094
Neuroleptic Malignant Syndrome	Hyponatremia, Elevated circulating creatine kinase concentration, Hyperkalemia, Hyperphosphatemia...	ORPHA:94093
Adenosine Deaminase, Elevated, Hemolytic Anemia Due To	Hyperbilirubinemia	OMIM:301083
Congenital Myopathy 4A, Autosomal Dominant	Limb joint contracture, Facial palsy, Centrally nucleated skeletal muscle fibers, Type 1 fibers r...	OMIM:255310
Marshall Syndrome	Retinal detachment, Cataract, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Ectopia lentis, Ab...	ORPHA:560
Schimke Immunoosseous Dysplasia	Waddling gait, Transient ischemic attack, Hypermelanotic macule, Hypertension, Astigmatism, Cereb...	OMIM:242900
Lowry-Maclean Syndrome	Corneal opacity, Developmental glaucoma, Proptosis, Megalocornea, Downslanted palpebral fissures	ORPHA:2409
Neu-Laxova Syndrome 2	Ablepharon, Cataract, Proptosis, Hypertelorism	OMIM:616038
Kenny-Caffey Syndrome, Type 2	Transient hypophosphatemia, Hyperphosphatemia, Hypocalcemia	OMIM:127000
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Generalized hyperpigmentation, At...	ORPHA:636
Cutis Laxa, Autosomal Recessive, Type Iie	Downslanted palpebral fissures, Proptosis, Long eyelashes, Highly arched eyebrow	OMIM:619451
Ichthyosis, Congenital, Autosomal Recessive 4B	Proptosis, Ectropion	OMIM:242500
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Pai Syndrome	Telecanthus, Downslanted palpebral fissures, Iris coloboma, Hypertelorism	ORPHA:1993
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Hypertelorism, Proptosis, Optic atrophy, Ptosis	ORPHA:93262
Autosomal Dominant Spastic Paraplegia Type 29	Hyperbilirubinemia	ORPHA:101009
Bartsocas-Papas Syndrome 1	Absent eyebrow, Ablepharon, Cicatricial lagophthalmos, Absent eyelashes, Hypertelorism, Lower eye...	OMIM:263650
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Remnants of the hyaloid vascular system, Corneal opacity, Morning glory anom...	OMIM:120200
Hypophosphatasia, Childhood	Waddling gait, Proptosis	OMIM:241510
Spinal Muscular Atrophy With Congenital Bone Fractures 2	Skeletal muscle atrophy, Spinal muscular atrophy, Flexion contracture, Increased variability in m...	OMIM:616867
Toriello-Lacassie-Droste Syndrome	Epicanthus, Telecanthus, Generalized hyperpigmentation, Blepharophimosis, Abnormal conjunctiva mo...	ORPHA:3339
Frontotemporal Dementia With Motor Neuron Disease	Abnormal mitochondrial morphology, Generalized amyotrophy	ORPHA:275872
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Increased mitochondrial number, Decreased activity of mitochondrial complex IV	OMIM:619063
Pierson Syndrome	Retinal detachment, Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Remnants of the hya...	OMIM:609049
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Amyotrophic Lateral Sclerosis 20	Muscle fiber inclusion bodies, Muscular dystrophy, Rimmed vacuoles	OMIM:615426
Cholestasis, Benign Recurrent Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:605479
Farber Disease	Corneal opacity, Macular degeneration, Abnormal conjunctiva morphology, Opacification of the corn...	ORPHA:333
Acrodysostosis 1 With Or Without Hormone Resistance	Epicanthus, Hypertelorism, Optic atrophy, Blue irides, Melanocytic nevus	OMIM:101800
Ogden Syndrome	Torticollis, Proptosis, Lethargy, Shuffling gait, Cardiogenic shock, Arrhythmia, Downslanted palp...	ORPHA:276432
3Mc Syndrome 3	Corneal opacity, Highly arched eyebrow, Hypertelorism, Blepharophimosis, Epicanthus inversus, Ptosis	OMIM:248340
Malignant Hyperthermia Of Anesthesia	Elevated creatine kinase after exercise, Hyperphosphatemia, Hyperkalemia	ORPHA:423
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Ataxia, Tremor, Bradykinesia, Ptosis	OMIM:146500
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Anterior chamber synechiae, Uveitis, Band keratopathy	ORPHA:85410
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Megal...	OMIM:180500
Hurler-Scheie Syndrome	Cardiomyopathy, Corneal opacity	ORPHA:93476
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Cone/cone-rod dystrophy, Abnormality of retinal pigmentation, Retinal atrophy, Corneal opacity, R...	ORPHA:85167
Prader-Willi Syndrome Due To Paternal 15Q11Q13 Deletion	Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia, Polyphagia, Self-injurious be...	ORPHA:98793
Mitochondrial Complex I Deficiency, Nuclear Type 29	Fatigue, Exercise intolerance, Failure to thrive, Exercise-induced myalgia, Myalgia, Decreased ac...	OMIM:618250
Mucopolysaccharidosis, Type Ivb	Ataxia, Corneal opacity, Mitral regurgitation, Opacification of the corneal stroma, Aortic valve ...	OMIM:253010
Barth Syndrome	Fatigue, Exercise intolerance, Abnormal mitochondrial morphology, Growth delay, Skeletal myopathy...	OMIM:302060
X-Linked Centronuclear Myopathy	Necklace skeletal muscle fibers, Type 1 fibers relatively smaller than type 2 fibers, Weakness of...	ORPHA:596
Kniest Dysplasia	Retinal detachment, Cataract, Aplasia/Hypoplasia of the lens, Rhegmatogenous retinal detachment, ...	ORPHA:485
Juvenile Sialidosis Type 2	Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetria, Dysphagia, Loss of ambulation, Cherr...	ORPHA:93399
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Proptosis, Long eyelashes, Hypertelorism	OMIM:618577
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
X-Linked Intellectual Disability-Psychosis-Macroorchidism Syndrome	Resting tremor, Hyperactivity, Broad-based gait, Anorexia, Aggressive behavior, Tremor, Abnormal ...	ORPHA:3077
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 2	Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia, Polyphagia, Self-injurious be...	ORPHA:177904
Prader-Willi Syndrome Due To Paternal Deletion Of 15Q11Q13 Type 1	Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia, Polyphagia, Self-injurious be...	ORPHA:177901
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Spotty hypopigmentation, Heart murmur, Hyperpigmentation of the skin	ORPHA:1867
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Shallow anterior chamber, Posterior synechiae of the anterior chamb...	OMIM:613195
Prader-Willi Syndrome Due To Maternal Uniparental Disomy Of Chromosome 15	Hypopigmentation of hair, Almond-shaped palpebral fissure, Bulimia, Polyphagia, Self-injurious be...	ORPHA:98754
Dent Disease 2	Elevated circulating creatine kinase concentration, Hypophosphatemia	OMIM:300555
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Cataract, Corneal opacity, Ataxia, Optic atrophy, Dysmetri...	ORPHA:93400
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Optic disc coloboma, Microcornea, Shallow anterior chamber, Chorior...	OMIM:602499
Graves Disease, Susceptibility To, 1	Hyperactivity, Congestive heart failure, Irritability, Proptosis, Polyphagia	OMIM:275000
Whipple Disease	Gastrointestinal hemorrhage, Pericarditis, Generalized hyperpigmentation, Ataxia, Myocardial infa...	ORPHA:3452
Autosomal Dominant Hypocalcemia	Hyperphosphatemia, Hypocalcemia, Hypomagnesemia	ORPHA:428
Marfanoid-Progeroid-Lipodystrophy Syndrome	Ectopia lentis, Melanocytic nevus, Hypertension, Keratoconjunctivitis sicca, Deeply set eye, Prop...	OMIM:616914
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 2	Hypophosphatemia	OMIM:612287
Superficial Siderosis	Abnormal bleeding, Ataxia, Subarachnoid hemorrhage, Unsteady gait, Dysmetria, Limb ataxia, Anisoc...	ORPHA:247245
Spherocytosis, Type 1	Hyperbilirubinemia	OMIM:182900
Sialidosis Type 1	Cataract, Corneal opacity, Ataxia, Tremor, Gait disturbance, Cherry red spot of the macula, Retin...	ORPHA:812
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Epicanthus, Hypertelorism, Ectopia pupillae, Pulmonic stenosis, Attention deficit hyperactivity d...	OMIM:618223
Distal Deletion 10Q	Epicanthus, Ataxia, Aggressive behavior, Unsteady gait, Hypotelorism, Upslanted palpebral fissure...	ORPHA:96148
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Thick eyebrow	ORPHA:585
Spherocytosis, Type 2	Hyperbilirubinemia	OMIM:616649
Scalp-Ear-Nipple Syndrome	Epicanthus, Cataract, Telecanthus, Palpebral edema, Congestive heart failure, Lower eyelid colobo...	OMIM:181270
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Poliosis, Vitreous floaters, Vitritis, Retinal hemorrh...	ORPHA:79098
Familial Acute Necrotizing Encephalopathy	Choroid hemorrhage, Gait disturbance	ORPHA:88619
Harderoporphyria	Increased circulating ferritin concentration, Neonatal hyperbilirubinemia	OMIM:618892
Congenital Dyserythropoietic Anemia Type Iii	Increased serum iron, Increased total iron binding capacity, Hyperbilirubinemia	ORPHA:98870
Lethal Osteosclerotic Bone Dysplasia	Proptosis	ORPHA:1832
Digeorge Syndrome	Sclerocornea, Hypertelorism, Attention deficit hyperactivity disorder, Blepharophimosis, Posterio...	OMIM:188400
Mucolipidosis Ii Alpha/Beta	Aortic regurgitation, Epicanthus, Palpebral edema, Hypertelorism, Sparse eyebrow, Congestive hear...	OMIM:252500
Juvenile Nasopharyngeal Angiofibroma	Proptosis, Epistaxis	ORPHA:289596
Syndromic Recessive X-Linked Ichthyosis	Corneal opacity, Attention deficit hyperactivity disorder	ORPHA:281090
Muenke Syndrome	Hypopigmentation of hair, Hypermelanotic macule, Hypertelorism, Hypopigmented skin patches, Propt...	ORPHA:53271
Nail-Patella Syndrome	Abnormal iris pigmentation, Antecubital pterygium, Primary congenital glaucoma, Tip-toe gait, Les...	ORPHA:2614
Rhizomelic Limb Shortening With Dysmorphic Features	Proptosis, Downslanted palpebral fissures	OMIM:618821
Ophthalmomandibulomelic Dysplasia	Megalocornea, Corneal opacity	ORPHA:2741
Charcot-Marie-Tooth Disease Type 4C	Abnormal pupillary light reflex, Inability to walk, Optic atrophy, Gait ataxia, Anisocoria, Abnor...	ORPHA:99949
Nail-Patella Syndrome	Keratoconus, Ptosis, Cataract, Antecubital pterygium, Microcornea, Microphakia, Lester's sign	OMIM:161200
Anophthalmia Plus Syndrome	Blepharophimosis, Eyelid coloboma, Iris coloboma, Hypertelorism	ORPHA:1104
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Upslanted palpebral fissure, Ocular albinism, Blepharophimosis	ORPHA:1352
Cinca Syndrome	Papilledema, Proptosis, Uveitis	OMIM:607115
2Q31.1 Microdeletion Syndrome	Epicanthus, Hypertelorism, Synophrys, Optic disc coloboma, Proptosis, Downslanted palpebral fissu...	ORPHA:251014
Pseudohypoparathyroidism Type 1C	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79444
Spinocerebellar Ataxia Type 3	Progressive cerebellar ataxia, Proptosis, Dystonia	ORPHA:98757
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Long eyebrows, Hypertelorism, Optic atrophy, Long eyelashes, S-shaped palpebral fis...	OMIM:201180
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Retinal detachment, Cataract, Corneal opacity	OMIM:613153
Alpha-Mannosidosis	Cataract, Corneal opacity, Hypertelorism	ORPHA:61
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Hsd10 Mitochondrial Disease	Abnormal mitochondrial morphology	OMIM:300438
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Absent eyebrow, Keratitis, Absent eyelashes, Hypertension, Opacification of the corneal stroma, R...	OMIM:308205
Jackson-Weiss Syndrome	Hypertelorism, Proptosis, Ptosis	ORPHA:1540
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Aggressive behavior, Hypertelorism, Synophrys, Upslanted palpebral fissure, Proptosis, Long eyela...	OMIM:620250
Anemia, Sideroblastic, 3, Pyridoxine-Refractory	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated hepatic iro...	OMIM:616860
Beta-Sarcoglycan-Related Limb-Girdle Muscular Dystrophy R4	Calf muscle hypertrophy, Myopathy, Increased variability in muscle fiber diameter, Pelvic girdle ...	ORPHA:119
Cystinosis	Corneal opacity, Portal hypertension, Gait disturbance, Retinopathy, Polydipsia, Abnormal repetit...	ORPHA:213
Periventricular Nodular Heterotopia 7	Optic disc pallor, Ataxia, Hypertelorism, Deeply set eye, Proptosis	OMIM:617201
Lujo Hemorrhagic Fever	Shock, Resting tremor, Excessive bleeding after a venipuncture, Myocarditis, Subconjunctival hemo...	ORPHA:319213
Mucopolysaccharidosis Type 6	Opacification of the corneal stroma	ORPHA:583
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Increased circulating ferritin concentration, Hypertriglyceridemia, Hyperbilirubinemia, Elevated ...	ORPHA:158057
Apert Syndrome	Hypertelorism, Corneal erosion, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fis...	ORPHA:87
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Chops Syndrome	Cataract, Hypertelorism, Synophrys, Optic atrophy, Proptosis, Long eyelashes, Thick eyebrow	OMIM:616368
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Hypopigmented skin patches, Keratoconjunctivitis, Gingival bleeding, ...	ORPHA:2907
Inclusion Body Myopathy With Early-Onset Paget Disease With Or Without Frontotemporal Dementia 2	Skeletal muscle atrophy, Myositis, Centrally nucleated skeletal muscle fibers, Myopathy, Muscle f...	OMIM:615422
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Synophrys, Abnormality of skin pigmentation, Deeply set eye, Tics, Chorioretinal coloboma, Compul...	OMIM:619475
Prader-Willi Syndrome	Hypopigmentation of hair, Almond-shaped palpebral fissure, Polyphagia, Upslanted palpebral fissur...	OMIM:176270
Fanconi Renotubular Syndrome 5	Hypophosphatemic rickets, Hypophosphatemia	OMIM:618913
Multicentric Carpo-Tarsal Osteolysis With Or Without Nephropathy	Telecanthus, Proptosis, Gait disturbance	ORPHA:2774
Congenital Muscular Dystrophy With Cerebellar Involvement	Retinal detachment, Cataract, Optic nerve hypoplasia, Optic atrophy, Abnormality iris morphology,...	ORPHA:370959
Infantile Sialic Acid Storage Disease	Conjugated hyperbilirubinemia	OMIM:269920
Kniest Dysplasia	Retinal detachment, Cataract, Gait disturbance, Proptosis	OMIM:156550
Noonan Syndrome 10	Epicanthus, Prominent corneal nerve fibers, Hypertelorism, Sparse eyebrow, Hypertrophic cardiomyo...	OMIM:616564
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Short stature, Fatty replacement of skeletal muscle, Hip pain, Generalized amyotrophy, Increased ...	ORPHA:52430
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormal eyebrow morphology, Cataract, Absent eyelashes, Proptosis, Hyperpigmentation of the skin	ORPHA:90153
Mosaic Trisomy 1	Congenital bilateral ptosis, Downslanted palpebral fissures, Opacification of the corneal stroma	ORPHA:1692
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Choroidal neovascularization, Angina pectoris, Congestive heart fail...	OMIM:264800
Congenital Myopathy 22A, Classic	Fatigue, Hip contracture, Scapular winging, Centrally nucleated skeletal muscle fibers, Achilles ...	OMIM:620351
19P13.12 Microdeletion Syndrome	Aortic regurgitation, Epicanthus, Hyperactivity, Hypertelorism, Synophrys, Self-injurious behavio...	ORPHA:254346
Spinocerebellar Ataxia-Dysmorphism Syndrome	Epicanthus, Proptosis, Optic atrophy, Ptosis	ORPHA:1185
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Band keratopathy, Uveitis, Hypertension, Iritis...	OMIM:186580
Cholestasis, Progressive Familial Intrahepatic, 6	Conjugated hyperbilirubinemia	OMIM:619484
Bile Acid Synthesis Defect, Congenital, 2	Hyperbilirubinemia	OMIM:235555
Hypermanganesemia With Dystonia 1	Hypermanganesemia, Increased total iron binding capacity, Unconjugated hyperbilirubinemia	OMIM:613280
Combined Oxidative Phosphorylation Deficiency 19	Increased variability in muscle fiber diameter, Failure to thrive, Mitochondrial swelling	OMIM:615595
Nephrolithiasis/Osteoporosis, Hypophosphatemic, 1	Hypophosphatemia	OMIM:612286
Tubulointerstitial Nephritis And Uveitis Syndrome	Nongranulomatous uveitis, Anterior uveitis, Cataract, Choroidal neovascularization, Abnormality o...	ORPHA:91500
Pandas	Anorexia, Impulsivity, Abnormal fear-induced behavior, Depression, Irritability, Tics, Attention ...	ORPHA:66624
Tyrosinemia Type 2	Tremor, Corneal opacity, Ataxia	ORPHA:28378
Proximal Myopathy With Extrapyramidal Signs	Increased variability in muscle fiber diameter, Central core regions in muscle fibers, Centrally ...	ORPHA:401768
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Stuve-Wiedemann Syndrome 1	Deeply set eye, Blotching pigmentation of the skin, Opacification of the corneal stroma, Dysphagi...	OMIM:601559
Crouzon Syndrome With Acanthosis Nigricans	Hypertelorism, Proptosis, Melanocytic nevus	OMIM:612247
Idiopathic Congenital Hypothyroidism	Neonatal hyperbilirubinemia	ORPHA:95717
Hemolytic Anemia, Nonspherocytic, Due To Hexokinase Deficiency	Hyperbilirubinemia	OMIM:235700
Desbuquois Syndrome	Abnormal eyelash morphology, Proptosis	ORPHA:1425
Mucopolysaccharidosis, Type Iva	Waddling gait, Opacification of the corneal stroma	OMIM:253000
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria	ORPHA:2714
Hypotonia, Ataxia, Developmental Delay, And Tooth Enamel Defect Syndrome	Increased variability in muscle fiber diameter	OMIM:617915
Bile Acid Synthesis Defect, Congenital, 4	Decreased serum bile acid concentration, Hyperbilirubinemia	OMIM:214950
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Recessive 1	Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Increased ...	OMIM:258450
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Corneal opacity, Hypermelanotic macule, Hypertelorism, Pr...	OMIM:259600
Congenital Hypothyroidism Due To Transplacental Passage Of Tsh-Binding Inhibitory Antibodies	Conjugated hyperbilirubinemia, Abnormal circulating thyroglobulin level	ORPHA:95715
Dubin-Johnson Syndrome	Conjugated hyperbilirubinemia	ORPHA:234
Cockayne Syndrome B	Ataxia, Tremor, Optic atrophy, Developmental cataract, Microcornea, Hypoplasia of the iris, Hyper...	OMIM:133540
Chédiak-Higashi Syndrome	Abnormal bleeding, Abnormality of retinal pigmentation, Hypopigmentation of hair, Ataxia, Epistax...	ORPHA:167
Neurodevelopmental Disorder With Progressive Spasticity And Brain White Matter Abnormalities	Growth delay, Increased variability in muscle fiber diameter, Flexion contracture, Failure to thr...	OMIM:619026
H Syndrome	Abnormal eyebrow morphology, Abnormal cardiovascular system physiology, Upper eyelid edema, Corne...	ORPHA:168569
Drug-Induced Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90037
Familial Isolated Hyperparathyroidism	Hypercalcemia, Hypophosphatemia	ORPHA:99879
Walker-Warburg Syndrome	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Retinal dystrophy, Optic ...	ORPHA:899
Microphthalmia, Syndromic 6	Microcornea, Retinal dystrophy, Orbital cyst, Sclerocornea	OMIM:607932
Optic Atrophy With Or Without Deafness, Ophthalmoplegia, Myopathy, Ataxia, And Neuropathy	Myopathy, Increased variability in muscle fiber diameter	OMIM:125250
Neurodevelopmental Disorder With Microcephaly, Seizures, And Neonatal Cholestasis	Increased serum bile acid concentration, Hyperbilirubinemia	OMIM:619685
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Telecanthus, Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Abnormal left ventricular fu...	OMIM:301056
Yunis-Varon Syndrome	Epicanthus, Cataract, Sparse eyelashes, Sclerocornea, Hypertelorism, Sparse eyebrow, Heart murmur...	OMIM:216340
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Vasculitis, Hematochezia, Subconjunctival hemorrhage, Vasculitis in the skin, Blepharitis	OMIM:617718
Peripheral Demyelinating Neuropathy, Central Dysmyelination, Waardenburg Syndrome, And Hirschsprung Disease	Torticollis, White eyelashes, White eyebrow, Ataxia, Portal hypertension, Hypopigmented skin patc...	OMIM:609136
Pseudohypoparathyroidism Type 1A	Calcinosis, Hyperphosphatemia, Hypocalcemia, Hypocalcemic tetany, Hypocalcemic seizures	ORPHA:79443
Congenital Bile Acid Synthesis Defect Type 2	Conjugated hyperbilirubinemia, Hyperbilirubinemia, Abnormal serum bile acid concentration	ORPHA:79303
Acrofrontofacionasal Dysostosis 2	Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:239710
Gillessen-Kaesbach-Nishimura Syndrome	Epicanthus, Proptosis, Telecanthus, Hypertelorism	OMIM:263210
20Q13.33 Microdeletion Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Upslanted palpebral fissure, Hematochezia, Prop...	ORPHA:261311
Filippi Syndrome	Proptosis, Optic atrophy, Dystonia	OMIM:272440
Bainbridge-Ropers Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Abnormal repetitive mannerisms, Synophrys, Inab...	OMIM:615485
Prolidase Deficiency	Hypertelorism, Diffuse telangiectasia, Proptosis, Petechiae, Ptosis	OMIM:170100
Dysbetalipoproteinemia	Xanthelasma, Corneal arcus, Angina pectoris	ORPHA:412
Cap Myopathy	Facial palsy, Abnormal muscle fiber morphology, Lower limb amyotrophy, Generalized amyotrophy, In...	ORPHA:171881
Vici Syndrome	Epicanthus, Cataract, Hypopigmentation of hair, Macular atrophy, Albinism, Hypertelorism, Congest...	OMIM:242840
Lathosterolosis	Epicanthus, Cataract, Opacification of the corneal stroma, Downslanted palpebral fissures, Ptosis	OMIM:607330
Hemophagocytic Lymphohistiocytosis, Familial, 1	Hyponatremia, Decreased HDL cholesterol concentration, Hypertriglyceridemia, Increased VLDL chole...	OMIM:267700
Premature Aging Syndrome, Penttinen Type	Corneal opacity, Hypertelorism, Hypermyelinated retinal nerve fibers, Hypotelorism, Corneal strom...	OMIM:601812
Cinca Syndrome	Retrobulbar optic neuritis, Uveitis, Proptosis, Pseudopapilledema, Purpura	ORPHA:1451
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Hennekam-Beemer Syndrome	Generalized hyperpigmentation, Telangiectasia of the skin, Optic atrophy, Upslanted palpebral fis...	ORPHA:2135
Autosomal Dominant Hypophosphatemic Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:89937
Shashi-Pena Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Proptosis, Long eyelashes, Ptosis	OMIM:617190
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Hemorrhagic Fever-Renal Syndrome	Shock, Tachycardia, Epistaxis, Hematemesis, Capillary leak, Intracranial hemorrhage, Melena, Hype...	ORPHA:340
Frontofacionasal Dysplasia	Telecanthus, Cataract, Hypertelorism, Ankyloblepharon, Microcornea, Eyelid coloboma, S-shaped pal...	OMIM:229400
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Ataxia, Highly arched eyebrow...	ORPHA:309282
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Cockayne Syndrome A	Cataract, Ataxia, Retinal atrophy, Tremor, Retinal pigment epithelial mottling, Optic atrophy, Ab...	OMIM:216400
Fanconi-Bickel Syndrome	Hypouricemia, Hypophosphatemia, Hypokalemia, Hypergalactosemia, Increased serum bile acid concent...	OMIM:227810
Glycogen Storage Disease Vii	Hyperuricemia, Elevated circulating creatine kinase concentration, Increased total bilirubin	OMIM:232800
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Hyperbilirubinemia	ORPHA:713
Neu-Laxova Syndrome	Cataract, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal eyelash m...	ORPHA:2671
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Hypercalcemia, Hypophosphatemia	OMIM:612089
Sitosterolemia 1	Abnormal bleeding, Xanthelasma, Corneal arcus	OMIM:210250
Congenital Bile Acid Synthesis Defect Type 3	Hyperbilirubinemia	ORPHA:79302
Cerebrotendinous Xanthomatosis	Optic disc pallor, Resting tremor, Ataxia, Optic neuropathy, Aggressive behavior, Abnormal eyelid...	ORPHA:909
Dyssegmental Dysplasia, Silverman-Handmaker Type	Pterygium, Proptosis, Developmental cataract	ORPHA:1865
Cholestasis, Progressive Familial Intrahepatic, 5	Conjugated hyperbilirubinemia, Hyperammonemia, Elevated circulating alpha-fetoprotein concentration	OMIM:617049
Kaposiform Lymphangiomatosis	Abnormal bleeding, Epidural hemorrhage, Epistaxis, Subconjunctival hemorrhage, Ecchymosis, Bruisi...	ORPHA:464329
Arthrogryposis Multiplex Congenita 6	Increased variability in muscle fiber diameter, Nemaline bodies, Arthrogryposis multiplex congenita	OMIM:619334
Infantile-Onset X-Linked Spinal Muscular Atrophy	Skeletal muscle atrophy, Hip contracture, Interphalangeal joint contracture of finger, Ankle flex...	ORPHA:1145
Autosomal Dominant Kenny-Caffey Syndrome	Hypocalcemic tetany, Hyperphosphatemia, Hypocalcemic seizures	ORPHA:93325
Otospondylomegaepiphyseal Dysplasia	Retinal detachment, Cataract, Proptosis, Degenerative vitreoretinopathy	ORPHA:1427
Proteinuria, Low Molecular Weight, With Hypercalciuria And Nephrocalcinosis	Hypophosphatemia	OMIM:308990
Kosaki Overgrowth Syndrome	Depression, Xanthelasma, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:616592
Tyshchenko Syndrome	Proptosis, Pulmonic stenosis, Ptosis	OMIM:615102
Glycogen Storage Disease With Severe Cardiomyopathy Due To Glycogenin Deficiency	Decreased muscle mass, Decreased muscle glycogen content, Increased mitochondrial number, Upper l...	ORPHA:263297
Linear Verrucous Nevus Syndrome	Hypophosphatemia	ORPHA:2611
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Hyperbilirubinemia	OMIM:609734
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Wilson Disease	Aggressive behavior, Hypersexuality, Depression, Kayser-Fleischer ring, Difficulty walking, Bruis...	ORPHA:905
Waldenström Macroglobulinemia	Gastrointestinal hemorrhage, Ataxia, Epistaxis, Anorexia, Abnormal retinal vascular morphology, C...	ORPHA:33226
Cockayne Syndrome	Miosis, Deeply set eye, Progressive gait ataxia, Lentiglobus, Retinal arteriolar constriction, Re...	ORPHA:191
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Telangiectasia of the skin, Leukocoria, Multiple cafe-au-lait spots, Subcutan...	ORPHA:1556
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Buphthalmos, Cataract, Peters anomaly, Persistent pupillary membrane	OMIM:613150
Refractory Celiac Disease	Hypomagnesemia, Hypoalbuminemia, Hypocalcemia, Hypophosphatemia, Hypoproteinemia	ORPHA:398063
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Abnormal pupil morphology, Microcornea, Deeply set eye, Abnormal repetitive mannerisms, Iris colo...	ORPHA:261552
Familial Infantile Myoclonic Epilepsy	Blepharospasm, Proptosis, Ataxia, Gait disturbance	ORPHA:352582
Severe Early-Childhood-Onset Retinal Dystrophy	Abnormality of retinal pigmentation, Bone spicule pigmentation of the retina, Abnormal pupillary ...	ORPHA:364055
Microcephaly-Cervical Spine Fusion Anomalies Syndrome	Proptosis, Ptosis	ORPHA:2522
Amyotrophic Lateral Sclerosis 21	Centrally nucleated skeletal muscle fibers, Hand muscle weakness, Shoulder girdle muscle weakness...	OMIM:606070
Microhydranencephaly	Athetosis, Proptosis, Self-mutilation	OMIM:605013
Neurotrophic Keratopathy	Anterior uveitis, Corneal scarring, Corneal stromal edema, Astigmatism, Recurrent corneal erosion...	ORPHA:137596
Myoclonus, Intractable, Neonatal	Increased variability in muscle fiber diameter	OMIM:617235
Oculodentodigital Dysplasia	Epicanthus, Cataract, Ataxia, Hypertelorism, Optic atrophy, Abnormality iris morphology, Hypotelo...	ORPHA:2710
Gm1 Gangliosidosis	Generalized dystonia, Corneal opacity, Ataxia, Dystonia, Tremor, Congestive heart failure, Abnorm...	ORPHA:354
Histiocytosis-Lymphadenopathy Plus Syndrome	Corneal arcus, Proptosis, Hypertrichotic hyperpigmented patch, Pulmonic stenosis, Facial telangie...	OMIM:602782
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Hypophosphatemic rickets, Increased circulating beta-C-terminal telopeptide concentration, Hypoph...	ORPHA:157215
Optic Pathway Glioma	Papilledema, Proptosis, Optic atrophy	ORPHA:2086
Congenital Myopathy 2C, Severe Infantile, Autosomal Dominant	Skeletal muscle atrophy, Abnormality of skeletal muscle fiber size, Increased endomysial connecti...	OMIM:620278
Thanatophoric Dysplasia	Proptosis, Downslanted palpebral fissures	ORPHA:2655
Hermansky-Pudlak Syndrome 10	Hypotelorism, Dystonia, Ocular albinism, Albinism	OMIM:617050
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Hypertelorism, Optic atrophy, Melanocytic nevus, Hypertension, Proptosis, Downslanted palpebral f...	ORPHA:1555
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short pa...	ORPHA:364577
Desbuquois Dysplasia 1	Waddling gait, Developmental glaucoma, Proptosis	OMIM:251450
Liver Failure, Infantile, Transient	Hypoalbuminemia, Hyperbilirubinemia	OMIM:613070
Cholestasis, Progressive Familial Intrahepatic, 8	Conjugated hyperbilirubinemia, Hypercholesterolemia, Elevated circulating alpha-fetoprotein conce...	OMIM:619662
Typical Nemaline Myopathy	Facial palsy, Limb-girdle muscle weakness, Flexion contracture, Increased variability in muscle f...	ORPHA:171436
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Epicanthus, Hypertelorism, Optic atrophy, Proptosis, Thick eyebrow	OMIM:614800
Dehydrated Hereditary Stomatocytosis 2	Hyperbilirubinemia	OMIM:616689
Craniofaciofrontodigital Syndrome	Gastrointestinal hemorrhage, Persistent fetal circulation, Epicanthus, Hypertelorism, Congestive ...	ORPHA:363705
Progeria-Short Stature-Pigmented Nevi Syndrome	Broad-based gait, Cataract, Supraventricular arrhythmia, Band keratopathy, Hyperpigmented nevi	ORPHA:2959
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Gastrointestinal hemorrhage, Cerebral hemorrhage, Diffuse alveolar hemorrhage, Hematemesis, Retin...	ORPHA:464321
Oculocerebrorenal Syndrome Of Lowe	Cataract, Corneal opacity, Chorioretinal dysplasia, Abnormal pupil morphology, Depression, Buphth...	ORPHA:534
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Wolcott-Rallison Syndrome	Hyponatremia, Hyperammonemia, Hypoalbuminemia, Hyperbilirubinemia	ORPHA:1667
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Telangiectasia ...	ORPHA:464
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
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Keratoconjunctivitis, Band keratopathy	OMIM:269200
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Ataxia, Oral-pharyngeal dysphagia, Hypertelorism, Tremor, Synophrys, Nasolacrimal duct obstructio...	OMIM:300966
Mixed-Type Autoimmune Hemolytic Anemia	Increased total bilirubin	ORPHA:90036
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Broad-based gait, Corneal opacity, Corneal dystrophy, Optic nerve hypoplasia, Aggressive behavior...	ORPHA:495875
Encephalocraniocutaneous Lipomatosis	Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphology, Abnormal ey...	ORPHA:2396
Hermansky-Pudlak Syndrome 2	Aberrant melanosome maturation, Prolonged bleeding time, Epicanthus, Albinism, Ocular albinism, U...	OMIM:608233
Chronic Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529808
Acute Bilirubin Encephalopathy	Hypernatremia, Hypoalbuminemia, Neonatal hyperbilirubinemia	ORPHA:529799
Autosomal Recessive Distal Osteolysis Syndrome	Proptosis	ORPHA:2776
Cardiofaciocutaneous Syndrome 1	Absent eyebrow, Epicanthus, Hypertelorism, Absent eyelashes, Tongue thrusting, Optic nerve dyspla...	OMIM:115150
Familial Thyroid Dyshormonogenesis	Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:95716
Cornelia De Lange Syndrome 1	Curly eyelashes, Highly arched eyebrow, Synophrys, Optic disc coloboma, Optic atrophy, Microcorne...	OMIM:122470
Alagille Syndrome 1	Cataract, Band keratopathy, Hypertelorism, Abnormal anterior chamber morphology, Chorioretinal at...	OMIM:118450
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Telecanthus, Sparse eyelashes, Hypertelorism, Sparse eyebrow, Dacryocystitis, Blue irides, Blepha...	OMIM:129900
Vascular Malformation, Primary Intraosseous	Proptosis, Gingival bleeding	OMIM:606893
Spinal Muscular Atrophy With Congenital Bone Fractures 1	Spinal muscular atrophy, Flexion contracture, Increased variability in muscle fiber diameter, Gen...	OMIM:616866
Bachmann-Bupp Syndrome	Hyperbilirubinemia	OMIM:619075
Uremic Pruritus	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Increased blood urea nitrogen	ORPHA:94059
Myasthenic Syndrome, Congenital, 7B, Presynaptic, Autosomal Recessive	Ankle flexion contracture, Elbow flexion contracture, Increased variability in muscle fiber diame...	OMIM:619461
Microcephaly, Growth Deficiency, Seizures, And Brain Malformations	Proptosis, Optic atrophy	OMIM:618346
20Q11.2 Microduplication Syndrome	Epicanthus, Palpebral edema, Proptosis, Abnormal shape of the palpebral fissure, Lingual dystonia...	ORPHA:363659
Cholestasis, Progressive Familial Intrahepatic, 2	Conjugated hyperbilirubinemia	OMIM:601847
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hypertyrosinemia, Conjugated hyperbilirubinemia, Hypoalbuminemia, Hypermethioninemia, Hyperbiliru...	OMIM:617156
Trisomy 8P	Hypertelorism, Heart murmur, Upslanted palpebral fissure, Astigmatism, Heterochromia iridis	ORPHA:264450
Peroxisome Biogenesis Disorder 12A (Zellweger)	Elevated circulating long chain fatty acid concentration, Hyperbilirubinemia	OMIM:614886
De Barsy Syndrome	Epicanthus, Cataract, Corneal opacity, Hypertelorism, Deeply set eye, Athetosis, Progressive cere...	ORPHA:2962
Localized Scleroderma	Raynaud phenomenon, Vasculitis, Hypopigmented skin patches, Uveitis, Deeply set eye, Proptosis, A...	ORPHA:90289
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Localized pulmonary hemorrhage, Uveitis, Retinal hemorrha...	OMIM:608710
Acrocraniofacial Dysostosis	Telecanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:949
Fatal Infantile Lactic Acidosis With Methylmalonic Aciduria	Skeletal muscle atrophy, Abnormal mitochondrial shape, Ragged-red muscle fibers, Flexion contract...	ORPHA:17
Fanconi Renotubular Syndrome 1	Hypokalemia, Hypophosphatemia	OMIM:134600
Distal Deletion 9P	Upslanted palpebral fissure, Epicanthus, Proptosis, Hypertelorism	ORPHA:1642
Lcat Deficiency	Corneal opacity	ORPHA:650
Colchicine Poisoning	Hyponatremia, Abnormal blood ion concentration, Hypophosphatemia, Hypokalemia, Hypocalcemia, Hypo...	ORPHA:31824
Cholestasis, Progressive Familial Intrahepatic, 1	Conjugated hyperbilirubinemia	OMIM:211600
Spondylodysplastic Ehlers-Danlos Syndrome	Corneal opacity, Optic nerve hypoplasia, Hypertelorism, Posterior subcapsular cataract, Optic dis...	ORPHA:536471
Exercise-Induced Malignant Hyperthermia	Hypocalcemia, Hyperphosphatemia, Hyperkalemia, Elevated circulating creatine kinase concentration	ORPHA:466650
Scheie Syndrome	Aortic regurgitation, Corneal opacity	ORPHA:93474
Arboleda-Tham Syndrome	Epicanthus, Dystonia, Lacrimal duct stenosis, Highly arched eyebrow, Optic atrophy, Dysphagia, Up...	OMIM:616268
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	Exercise intolerance, Skeletal muscle atrophy, Facial palsy, Ragged-red muscle fibers, Rhabdomyol...	OMIM:157640
Moebius Syndrome	Epicanthus, Corneal opacity, Dysphagia, Multiple cafe-au-lait spots, Blepharitis, Ptosis	ORPHA:570
Hepatoportal Sclerosis	Hypoalbuminemia, Hyperbilirubinemia	ORPHA:64743
Marbach-Rustad Progeroid Syndrome	Right bundle branch block, Proptosis, Shallow orbits, Pulmonary insufficiency, Intention tremor	OMIM:619322
Car T Cell Therapy-Associated Cytokine Release Syndrome	Elevated circulating creatinine concentration, Hyperbilirubinemia	ORPHA:542323
Spastic Paraplegia 29, Autosomal Dominant	Neonatal hyperbilirubinemia	OMIM:609727
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Sparse eyelashes, Lacrimal duct stenosis, Sparse eyebrow, Dacryocystitis, Blue irides, Blepharoph...	OMIM:604292
Overhydrated Hereditary Stomatocytosis	Hyperbilirubinemia	OMIM:185000
Cockayne Syndrome Type 3	Optic disc pallor, Cataract, Retinal atrophy, Retinal dystrophy, Unsteady gait, Subdural hemorrha...	ORPHA:90324
Familial Partial Lipodystrophy, Dunnigan Type	Skeletal muscle hypertrophy, Myopathy, Abnormality of skeletal muscle fiber size, Myalgia	ORPHA:2348
Neurodevelopmental Disorder With Hypotonia, Language Delay, And Skeletal Defects With Or Without Seizures	Prolonged QT interval, Optic nerve hypoplasia, Shallow orbits, Proptosis, Attention deficit hyper...	OMIM:620029
Hurler-Scheie Syndrome	Aortic regurgitation, Pulmonary arterial hypertension, Mitral regurgitation, Corneal opacity	OMIM:607015
Bile Acid Synthesis Defect, Congenital, 1	Conjugated hyperbilirubinemia, Hypocholesterolemia	OMIM:607765
Hurler Syndrome	Corneal opacity, Angina pectoris, Depression, Abnormality of skin pigmentation, Cardiomyopathy, H...	ORPHA:93473
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Cataract, Corneal opacity, Corneal dystrophy, A...	ORPHA:324
Saul-Wilson Syndrome	Cataract, Proptosis	OMIM:618150
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:241530
Pyruvate Kinase Deficiency Of Red Cells	Reduced haptoglobin level, Unconjugated hyperbilirubinemia	OMIM:266200
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Hypocalcemia, Hypophosphatemia	OMIM:600081
Camptodactyly-Joint Contractures-Facial Skeletal Defects Syndrome	Proptosis, Ptosis	ORPHA:1323
Pparg-Related Familial Partial Lipodystrophy	Calf muscle pseudohypertrophy, Abnormality of skeletal muscle fiber size, Skeletal muscle hypertr...	ORPHA:79083
Dyschondrosteosis-Nephritis Syndrome	Corneal opacity	ORPHA:1765
Developmental And Epileptic Encephalopathy 80	Upslanted palpebral fissure, Optic disc pallor, Proptosis, Hypertelorism	OMIM:618580
Mowat-Wilson Syndrome	Cataract, Hypertelorism, Microcornea, Deeply set eye, Ectopia pupillae, Chorioretinal coloboma, P...	OMIM:235730
Fryns Syndrome	Blepharophimosis, Narrow palpebral fissure, Opacification of the corneal stroma, Hypertelorism	OMIM:229850
Relapsing Fever	Elevated circulating creatinine concentration, Elevated circulating C-reactive protein concentrat...	ORPHA:91547
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Hypoplasia of the retina, Retinal dysplasi...	OMIM:253280
Hypomandibular Faciocranial Dysostosis	Upslanted palpebral fissure, Optic disc coloboma, Proptosis, Downslanted palpebral fissures	ORPHA:1790
Intrahepatic Cholestasis Of Pregnancy	Increased serum bile acid concentration, Hyperbilirubinemia	ORPHA:69665
Dehydrated Hereditary Stomatocytosis	Increased circulating ferritin concentration, Increased total bilirubin, Neonatal hyperbilirubine...	ORPHA:3202
Pyruvate Carboxylase Deficiency	Hypoglutaminemia, Increased serum pyruvate, Hyperglutamatemia, Hyperammonemia, Hyperprolinemia, H...	ORPHA:3008
Cole-Carpenter Syndrome 2	Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:616294
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Abnormal circulating calcium concentration, Hypophosphatemia	OMIM:307800
Tbck-Related Intellectual Disability Syndrome	Epicanthus, Corneal opacity, Inability to walk, Synophrys, Upslanted palpebral fissure, Deeply se...	ORPHA:488632
Frank-Ter Haar Syndrome	Hypertelorism, Developmental glaucoma, Buphthalmos, Proptosis, Megalocornea, Cafe-au-lait spot, D...	OMIM:249420
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Blomstrand Lethal Chondrodysplasia	Telecanthus, Cataract, Proptosis	ORPHA:50945
Fanconi Anemia	Epicanthus, Cataract, Abnormal eyelid morphology, Almond-shaped palpebral fissure, Hypertelorism,...	ORPHA:84
Aminopterin/Methotrexate Embryofetopathy	Epicanthus, Proptosis, Hypertelorism	ORPHA:1908
Hereditary Elliptocytosis	Neonatal hyperbilirubinemia, Hyperbilirubinemia	ORPHA:288
Multiple Sulfatase Deficiency	Retinal degeneration, Corneal opacity, Ataxia	OMIM:272200
Sickle Cell Anemia	Elevated circulating creatinine concentration, Unconjugated hyperbilirubinemia	ORPHA:232
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 1	Exercise intolerance, Scapular winging, Decreased activity of mitochondrial complex IV, Ragged-re...	OMIM:600462
Congenital Disorder Of Deglycosylation 1	Restlessness, Corneal opacity, Oral-pharyngeal dysphagia, Hypertelorism, Action tremor, Dysmetria...	OMIM:615273
Hemophagocytic Lymphohistiocytosis, Familial, 2	Hyponatremia, Hypertriglyceridemia, Increased circulating ferritin concentration, Hypoalbuminemia...	OMIM:603553
Machado-Joseph Disease Type 1	Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dystonia	ORPHA:276238
Machado-Joseph Disease Type 2	Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dystonia	ORPHA:276241
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Developmental cataract	OMIM:616603
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Ectopia lentis, Heart murmur, Deeply set eye, Mitral regur...	ORPHA:284979
Down Syndrome	Brushfield spots, Epicanthus, Upslanted palpebral fissure	OMIM:190685
Pituitary Hormone Deficiency, Combined, 6	Hyperbilirubinemia	OMIM:613986
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	Exercise intolerance, Skeletal muscle atrophy, Scapular winging, Centrally nucleated skeletal mus...	OMIM:607459
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	OMIM:264700
Fibrochondrogenesis 1	Megalocornea, Proptosis	OMIM:228520
Autoimmune Disease, Multisystem, With Facial Dysmorphism	Hypertelorism, Proptosis, Portal hypertension, Ptosis	OMIM:613385
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Hypertelorism, Developmental glaucoma, Proptosis, Downslanted palpebral fissures, Thick eyebrow	OMIM:245600
Pontocerebellar Hypoplasia, Type 10	Highly arched eyebrow, Synophrys, Proptosis, Long eyelashes, Long palpebral fissure	OMIM:615803
Atelosteogenesis Type I	Telecanthus, Proptosis, Retinal dysplasia, Hypertelorism	ORPHA:1190
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Neonatal hyperbilirubinemia	ORPHA:73272
Combined Oxidative Phosphorylation Deficiency 55	Elevated circulating creatine kinase concentration, Hypomagnesemia, Hypophosphatemia, Hypophospha...	OMIM:619743
Igg4-Related Dacryoadenitis And Sialadenitis	Palpebral edema, Enlarged lacrimal glands, Abnormality of the orbital region, Abnormal lacrimal d...	ORPHA:79078
Growth Retardation, Impaired Intellectual Development, Hypotonia, And Hepatopathy	Conjugated hyperbilirubinemia, Decreased serum zinc, Hypoalbuminemia, Hyperammonemia	OMIM:617093
Antley-Bixler Syndrome	Proptosis, Downslanted palpebral fissures, Hypertelorism	ORPHA:83
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Hypouricemia, Hypophosphatemia	OMIM:616026
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Myopathy, Decreased activity of mitochondrial complex IV, Increased variability in muscle fiber d...	OMIM:604377
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Short stature, Increased variability in muscle fiber diameter, Increased muscle glycogen content,...	ORPHA:502423
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Transient ischemic attack, Subarachnoid hemorrhage, Hypertelorism, Hypovole...	ORPHA:91387
Short Stature With Microcephaly And Distinctive Facies	Telecanthus, Sparse eyebrow, Spotty hypopigmentation, Proptosis, Spotty hyperpigmentation	OMIM:615789
Native American Myopathy	Skeletal muscle atrophy, Short stature, Cryptorchidism, Abnormality of skeletal muscle fiber size...	ORPHA:168572
Thyroid Hormone Resistance, Generalized, Autosomal Recessive	Proptosis, Attention deficit hyperactivity disorder	OMIM:274300
Bile Acid Synthesis Defect, Congenital, 3	Hyperbilirubinemia	OMIM:613812
Williams Syndrome	Myocardial infarction, Tremor, Dysmetria, Compulsive behaviors, Megalocornea, Ataxia, Sudden card...	ORPHA:904
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Elevated circulating creatine kinase concentration, Elevated circulating long chain fatty acid co...	OMIM:608836
Hypocalciuric Hypercalcemia, Familial, Type Iii	Hypermagnesemia, Hypercalcemia, Hypophosphatemia	OMIM:600740
Vascular Ehlers-Danlos Syndrome	Keratoconus, Abnormal bleeding, Telecanthus, Hypoplastic lacrimal duct, Epicanthus, Telangiectasi...	ORPHA:286
Optic Atrophy 11	Facial diplegia, Short stature, Increased variability in muscle fiber diameter, Fiber type grouping	OMIM:617302
Mitochondrial Dna Depletion Syndrome 3 (Hepatocerebral Type)	Elevated circulating alpha-fetoprotein concentration, Hypoalbuminemia, Hyperbilirubinemia	OMIM:251880
Marshall-Smith Syndrome	Bruising susceptibility, Optic atrophy, Proptosis, Hypertelorism	ORPHA:561
Mitochondrial Phosphate Carrier Deficiency	Abnormal mitochondrial shape	OMIM:610773
Beare-Stevenson Cutis Gyrata Syndrome	Hypertelorism, Optic atrophy, Hypertension, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:123790
Machado-Joseph Disease Type 3	Dysphagia, Progressive cerebellar ataxia, Progressive gait ataxia, Proptosis, Dystonia	ORPHA:276244
Weill-Marchesani Syndrome 2	Iridodonesis, Cataract, Lens luxation, Ectopia lentis, Congestive heart failure, Microspherophaki...	OMIM:608328
Chondrodysplasia With Joint Dislocations, Gpapp Type	Proptosis	OMIM:614078
Anemia, Congenital Dyserythropoietic, Type Iv	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Hyperbilirubinemia	OMIM:613673
Bohring-Opitz Syndrome	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Abnormal optic nerve morphology	OMIM:605039
Stickler Syndrome	Retinal detachment, Epicanthus, Cataract, Telecanthus, Ectopia lentis, Hypertelorism, Abnormal vi...	ORPHA:828
Ossification Anomalies-Psychomotor Developmental Delay Syndrome	Hypertelorism, Proptosis, Dysphagia, Shallow orbits	ORPHA:73230
Congenital Disorder Of Glycosylation, Type Iig	Upslanted palpebral fissure, Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:611209
Arthrogryposis, Renal Dysfunction, And Cholestasis 2	Conjugated hyperbilirubinemia	OMIM:613404
Wolf-Hirschhorn Syndrome	Rieger anomaly, Epicanthus, Highly arched eyebrow, Hypertelorism, Ectopia pupillae, Proptosis, Ab...	OMIM:194190
Elsahy-Waters Syndrome	Cataract, Hypertelorism, Synophrys, Proptosis, Increased cup-to-disc ratio, Megalocornea, Downsla...	OMIM:211380
Hypocalcemic Vitamin D-Resistant Rickets	Hypocalcemia, Hypophosphatemia	ORPHA:93160
Dystonia-Aphonia Syndrome	Macroglossia, Abnormal mitochondrial shape	ORPHA:412217
Distal Xq28 Microduplication Syndrome	Neonatal hyperbilirubinemia	ORPHA:293939
Fanconi Renotubular Syndrome 2	Hypophosphatemia	OMIM:613388
Fructose-1,6-Bisphosphatase Deficiency	Hyperalaninemia, Hyperuricemia, Neonatal hyperbilirubinemia	ORPHA:348
Lipodystrophy, Congenital Generalized, Type 4	Exercise intolerance, Centrally nucleated skeletal muscle fibers, Flexion contracture, Skeletal m...	OMIM:613327
Multiple Pterygium-Malignant Hyperthermia Syndrome	Hypotelorism, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:2215
Neurodegeneration, Childhood-Onset, With Hypotonia, Respiratory Insufficiency, And Brain Imaging Abnormalities	Type 2 muscle fiber predominance, Increased variability in muscle fiber diameter	OMIM:619173
Hyperparathyroidism, Neonatal Severe	Calcinosis, Hypercalcemia, Hypophosphatemia	OMIM:239200
Anemia, Nonspherocytic Hemolytic, Due To G6Pd Deficiency	Decreased glucose-6-phosphate dehydrogenase level in blood, Unconjugated hyperbilirubinemia	OMIM:300908
Caffey Disease	Proptosis	ORPHA:1310
Hyperostosis Cranialis Interna	Proptosis, Optic atrophy	OMIM:144755
Zygomycosis	Gastrointestinal hemorrhage, Retinal detachment, Pericarditis, Epistaxis, Hematemesis, Myocarditi...	ORPHA:73263
Wiedemann-Rautenstrauch Syndrome	Absent eyebrow, Cataract, Entropion, Sparse eyelashes, Hypertelorism, Absent eyelashes, Sparse ey...	OMIM:264090
Peroxisome Biogenesis Disorder 13A (Zellweger)	Conjugated hyperbilirubinemia, Increased circulating very long-chain fatty acid concentration	OMIM:614887
Erdheim-Chester Disease	Ataxia, Congestive heart failure, Xanthelasma, Proptosis, Polydipsia, Ptosis	ORPHA:35687
Developmental And Epileptic Encephalopathy 39 With Leukodystrophy	Increased variability in muscle fiber diameter, Type 1 muscle fiber predominance, Right ventricul...	OMIM:612949
Chime Syndrome	Epicanthus, Corneal opacity, Hypertelorism, Upslanted palpebral fissure, Retinal coloboma, Ptosis	ORPHA:3474
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Optic disc pallor, Corneal opacity, Deeply set eye, Ast...	ORPHA:464311
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Cataract, Highly arched eyebrow, Congestive heart failure, Synophrys, Proptosis, Long eyelashes, ...	ORPHA:444077
Cole-Carpenter Syndrome 1	Proptosis, Orbital craniosynostosis, Shallow orbits	OMIM:112240
Vitamin D-Dependent Rickets, Type 2A	Hypocalcemic seizures, Hypophosphatemia	OMIM:277440
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Retinal hemorrhage, Corneal scarring, Hypertension, Blotching pigmentation of the sk...	OMIM:614653
Myopathy, Mitochondrial, And Ataxia	Short stature, Growth delay, Distal amyotrophy, Myalgia, Increased variability in muscle fiber di...	OMIM:617675
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Cataract, Hyperactivity, Aggressive behavior, Hypertel...	OMIM:613406
Lethal Congenital Contracture Syndrome 9	Elbow extension contracture, Centrally nucleated skeletal muscle fibers, Flexion contracture, Myo...	OMIM:616503
Williams-Beuren Syndrome	Medial flaring of the eyebrow, Epicanthus, Portal hypertension, Retinal arteriolar tortuosity, Bl...	OMIM:194050
Mosaic Trisomy 8	Corneal opacity, Hypertelorism, Hypopigmented skin patches, Deeply set eye, Hypopigmentation of t...	ORPHA:96061
Loeys-Dietz Syndrome 5	Hypertelorism, Mitral regurgitation, Proptosis, Long palpebral fissure, Bruising susceptibility, ...	OMIM:615582
Rh Deficiency Syndrome	Reduced haptoglobin level, Hyperbilirubinemia	ORPHA:71275
Hypophosphatemic Rickets, X-Linked Recessive	Hypophosphatemic rickets, Hypophosphatemia	OMIM:300554
Mosaic Trisomy 9	Upslanted palpebral fissure, Hypertelorism, Corneal opacity, Hypotelorism	ORPHA:99776
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Transient ischemic attack, Hypermelanotic macule, Congestive heart failure, Hype...	ORPHA:1830
Nestor-Guillermo Progeria Syndrome	Sparse eyelashes, Sparse eyebrow, Right bundle branch block, Hypertension, Mitral regurgitation, ...	OMIM:614008
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Proptosis, Downslanted palpebral fissures	ORPHA:85184
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Generalized hyperpigmentati...	ORPHA:744
Thanatophoric Dysplasia Type 2	Proptosis	ORPHA:93274
Mandibular Hypoplasia, Deafness, Progeroid Features, And Lipodystrophy Syndrome	Proptosis, Telangiectasia of the skin	OMIM:615381
Chitayat Syndrome	Proptosis, Hypertelorism	OMIM:617180
Glycogen Storage Disease Xii	Reduced haptoglobin level, Elevated circulating creatine kinase concentration, Hyperbilirubinemia	OMIM:611881
Anemia, Congenital Dyserythropoietic, Type Ia	Hyperbilirubinemia	OMIM:224120
Oncogenic Osteomalacia	Hypocalcemia, Hypophosphatemia	ORPHA:352540
Mucopolysaccharidosis, Type Vii	Cardiomyopathy, Epicanthus, Corneal opacity, Thick eyebrow	OMIM:253220
Rift Valley Fever	Abnormal bleeding, Retinitis, Anorexia, Hematemesis, Retinal hemorrhage, Uveitis, Macular edema, ...	ORPHA:319251
Tangier Disease	Corneal opacity, Ectropion	ORPHA:31150
Metaphyseal Chondrodysplasia, Jansen Type	Hypercalcemia, Hypophosphatemia	OMIM:156400
Robinow Syndrome, Autosomal Recessive 2	Proptosis, Long eyelashes, Hypertelorism	OMIM:618529
Robinow Syndrome, Autosomal Dominant 3	Epicanthus, Tricuspid regurgitation, Telecanthus, Hypertelorism, Upslanted palpebral fissure, Pro...	OMIM:616894
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Raynaud phenomenon, Punctate vasculitis skin lesions, Retinal hemorr...	OMIM:192315
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Telecanthus, Corneal opacity, Hypertelorism, Synophrys, Thin eyebrow, Cafe-au-lait spot, Short pa...	OMIM:608670
Fibrochondrogenesis	Proptosis, Downslanted palpebral fissures, Hypertelorism	ORPHA:2021
Fundus Dystrophy, Pseudoinflammatory, Recessive Form	Central retinal exudate, Peripheral retinal degeneration, Retinal hemorrhage	OMIM:264420
Ablepharon Macrostomia Syndrome	Absent eyebrow, Ablepharon, Corneal opacity, Absent eyelashes, Corneal erosion, Abnormality of sk...	ORPHA:920
Cole-Carpenter Syndrome	Proptosis, Downslanted palpebral fissures	ORPHA:2050
Rubinstein-Taybi Syndrome 1	Broad eyebrow, Epicanthus, Cataract, Hyperactivity, Highly arched eyebrow, Impulsivity, Hypertelo...	OMIM:180849
Mitchell-Riley Syndrome	Hyperbilirubinemia	OMIM:615710
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Optic nerve dysplasia, Retinal dysplasia, Opacification of the corneal stroma	OMIM:615287
Shprintzen-Goldberg Syndrome	Telecanthus, Hypertelorism, Mitral regurgitation, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:2462
Mucopolysaccharidosis Type 4	Corneal opacity, Gait disturbance	ORPHA:582
Graft Versus Host Disease	Hyperbilirubinemia	ORPHA:39812
Proteasome-Associated Autoinflammatory Syndrome 1	Congestive heart failure, Punctate opacification of the cornea, Premature graying of hair, Propto...	OMIM:256040
Holoprosencephaly-Caudal Dysgenesis Syndrome	Cyclopia, Proptosis, Hypertelorism	ORPHA:2165
Hypocalcemic Vitamin D-Dependent Rickets	Hypocalcemia, Hypocalcemic seizures, Hypophosphatemia	ORPHA:289157
Arthrogryposis, Renal Dysfunction, And Cholestasis 1	Conjugated hyperbilirubinemia	OMIM:208085
Schimmelpenning-Feuerstein-Mims Syndrome	Hypopigmentation of the skin, Corneal opacity	OMIM:163200
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:235255
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Retinal detachment, Cataract, Corneal opacity, Retinal atrophy, Optic nerve hypoplasia, Optic atr...	OMIM:236670
Fucosidosis	Corneal opacity	ORPHA:349
X-Linked Intellectual Disability, Snyder Type	Unilateral ptosis, Hypertelorism, Sparse eyebrow, Inability to walk, Synophrys, Patchy hypo- and ...	ORPHA:3063
Roberts-Sc Phocomelia Syndrome	Cataract, Corneal opacity, Hypertelorism, Eyelid coloboma, Proptosis, Opacification of the cornea...	OMIM:268300
Shprintzen-Goldberg Craniosynostosis Syndrome	Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures, Ptosis	OMIM:182212
Congenital Myopathy 22B, Severe Fetal	Waddling gait, Synophrys, Deeply set eye, Proptosis, Downslanted palpebral fissures	OMIM:620369
Desbuquois Dysplasia 2	Epicanthus, Synophrys, Proptosis	OMIM:615777
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Epicanthus, Hypertelorism, Mitral regurgitation, Proptosis, Difficulty walking	ORPHA:457395
Incontinentia Pigmenti	Hypoplasia of the fovea, Retinal detachment, Cataract, Keratitis, Retinal vascular proliferation,...	OMIM:308300
Ogden Syndrome	Abnormal eyelid morphology, Ventricular tachycardia, Deeply set eye, Supraventricular tachycardia...	OMIM:300855
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Torticollis, Microcornea, Proptosis, Peripapillary atrophy, Bruising susceptibility	ORPHA:536467
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Optic disc pallor, Optic nerve hypoplasia, Hypotelorism, Upslanted palpebral fissure, Self-injuri...	ORPHA:468631
Abetalipoproteinemia	Decreased HDL cholesterol concentration, Decreased LDL cholesterol concentration, Hypoalbuminemia...	ORPHA:14
Prolidase Deficiency	Abnormality of retinal pigmentation, White forelock, Proptosis, Hypertelorism	ORPHA:742
Cystic Echinococcosis	Hyperbilirubinemia	ORPHA:400
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Hypertelorism, Eyelid coloboma, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:2211
Dyggve-Melchior-Clausen Disease	Inability to walk, Hyperactivity, Corneal opacity, Difficulty walking	ORPHA:239
Jackson-Weiss Syndrome	Proptosis	OMIM:123150
1P36 Deletion Syndrome	Abnormal eyebrow morphology, Epicanthus, Cataract, Dilated cardiomyopathy, Ocular albinism, Polyp...	ORPHA:1606
Wilson Disease	Decreased circulating ceruloplasmin concentration, Hypouricemia, Hypoalbuminemia, High noncerulop...	OMIM:277900
Macrocephaly, Dysmorphic Facies, And Psychomotor Retardation	Hypertelorism, Sparse eyebrow, Gait ataxia, Upslanted palpebral fissure, Proptosis, Downslanted p...	OMIM:617011
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Hyperactivity, Corneal opacity, Deeply set eye, Astigmat...	ORPHA:464306
Angiopathy, Hereditary, With Nephropathy, Aneurysms, And Muscle Cramps	Supraventricular arrhythmia, Raynaud phenomenon, Retinal arteriolar tortuosity, Retinal hemorrhag...	OMIM:611773
Hereditary Spherocytosis	Hyperbilirubinemia	ORPHA:822
Lissencephaly Due To Lis1 Mutation	Neonatal hyperbilirubinemia	ORPHA:95232
Congenital Myopathy 17	Telecanthus, Proptosis, Downslanted palpebral fissures, Ptosis	OMIM:618975
Glutaryl-Coa Dehydrogenase Deficiency	Limb dystonia, Dystonia, Ataxia, Tremor, Subdural hemorrhage, Retinal hemorrhage, Athetosis, Dysp...	ORPHA:25
Acrocardiofacial Syndrome	Mitral stenosis, Proptosis, Long eyelashes, Hypertelorism	ORPHA:2008
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Epicanthus, Hypertelorism, Proptosis, Downslanted palpebral fissures, Ptosis	ORPHA:264200
Baller-Gerold Syndrome	Hypertelorism, Epicanthus, Proptosis, Hypotelorism	ORPHA:1225
Oculopharyngodistal Myopathy 1	Autophagic vacuoles, Facial palsy, Weight loss, Distal amyotrophy, Increased variability in muscl...	OMIM:164310
Megalencephaly-Severe Kyphoscoliosis-Overgrowth Syndrome	Hypertelorism, Sparse eyebrow, Gait ataxia, Upslanted palpebral fissure, Proptosis, Difficulty wa...	ORPHA:457359
Myasthenic Syndrome, Congenital, 19	Exercise intolerance, Increased variability in muscle fiber diameter, Facial palsy	OMIM:616720
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Spontaneous, recurrent epistaxis, Broad-based gait, Papilledema, Corneal opacity, Limb ataxia, Ab...	ORPHA:2072
Syndromic Multisystem Autoimmune Disease Due To Itch Deficiency	Proptosis, Portal hypertension, Ptosis	ORPHA:228426
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Ectopia lentis, Hypoplasia of the iris, Abnormality ...	ORPHA:2092
Fructose Intolerance, Hereditary	Bicarbonaturia, Hyperuricemia, Hyperbilirubinemia, Hypophosphatemia	OMIM:229600
Fanconi-Bickel Syndrome	Hypertriglyceridemia, Hypophosphatemia	ORPHA:2088
Hereditary Fructose Intolerance	Hypermagnesemia, Hyperuricemia, Hypophosphatemia	ORPHA:469
Stomatin-Deficient Cryohydrocytosis With Neurologic Defects	Conjugated hyperbilirubinemia, Hyperkalemia	OMIM:608885
Xylt1-Cdg	Synophrys, Proptosis	ORPHA:370930
Robinow Syndrome, Autosomal Dominant 2	Upslanted palpebral fissure, Proptosis, Hypertelorism	OMIM:616331
Mucopolysaccharidosis Type 1	Corneal opacity, Congestive heart failure, Optic atrophy, Hypertrophic cardiomyopathy, Retinopathy	ORPHA:579
Retinal Arteries, Tortuosity Of	Retinal arteriolar tortuosity, Retinal hemorrhage	OMIM:180000
Peripheral Primitive Neuroectodermal Tumor	Abnormal bleeding, Torticollis, Proptosis, Anorexia	ORPHA:370348
Noonan Syndrome	Abnormal bleeding, Hypertelorism, Melanocytic nevus, Proptosis, Arrhythmia, Downslanted palpebral...	ORPHA:648
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Epicanthus, Cataract, Corneal opacity, Abnormality of skin pigmentation, Mu...	ORPHA:1052
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Bilateral ptosis, Heart murmur, Upslanted palpebral fissure, Intracranial hemorrhage, Proptosis, ...	ORPHA:163979
Mucopolysaccharidosis Type 7	Corneal opacity	ORPHA:584
Mucopolysaccharidosis Type 2	Abnormality of retinal pigmentation, Hyperactivity, Papilledema, Corneal opacity, Impulsivity, Ag...	ORPHA:580
Autoimmune Hepatitis	Increased total bilirubin	ORPHA:2137
Bohring-Opitz Syndrome	Retinal atrophy, Hypertelorism, Inability to walk, Synophrys, Optic atrophy, Proptosis, Bradycardia	ORPHA:97297
Trichohepatoenteric Syndrome 1	Aortic regurgitation, Hypertelorism, Proptosis, Pulmonic stenosis, Generalized hypopigmentation, ...	OMIM:222470
17Q11 Microdeletion Syndrome	Telangiectasia of the skin, Freckling, Hypermelanotic macule, Hypertelorism, Retinal vascular pro...	ORPHA:97685
Hypothyroidism Due To Tsh Receptor Mutations	Increased circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90673
Alg9-Cdg	Telecanthus, Tricuspid regurgitation, Torticollis, Hypertelorism, Irritability, Proptosis, Shallo...	ORPHA:79328
Okamoto Syndrome	Hypertelorism, Astigmatism, Proptosis, Long palpebral fissure, Aortic valve stenosis, Ptosis	ORPHA:2729
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Growth delay, Abnormal mitochondrial shape	ORPHA:485421
Microcephaly 3, Primary, Autosomal Recessive	Proptosis	OMIM:604804
Mirizzi Syndrome	Hyperbilirubinemia	ORPHA:521219
Familial Gestational Hyperthyroidism	Hyperactivity, Proptosis, Agitation, Hand tremor	ORPHA:99819
Primary Fanconi Renotubular Syndrome	Hypouricemia, Bicarbonaturia, Hypophosphatemia, Hypokalemia, Decreased circulating carnitine conc...	ORPHA:3337
Tropical Endomyocardial Fibrosis	Prolonged QRS complex, Restrictive cardiomyopathy, Atrioventricular block, Left bundle branch blo...	ORPHA:75565
Marshall-Smith Syndrome	Optic nerve hypoplasia, Highly arched eyebrow, Synophrys, Premature ventricular contraction, Mela...	OMIM:602535
Proximal Renal Tubular Acidosis	Polydipsia, Cataract, Hypovolemia, Band keratopathy	ORPHA:47159
Donohue Syndrome	Proptosis, Hypermelanotic macule	OMIM:246200
Holoprosencephaly 2	Remnants of the hyaloid vascular system, Hypotelorism, Proptosis, Chorioretinal coloboma, Cyclopi...	OMIM:157170
Shiga Toxin-Associated Hemolytic Uremic Syndrome	Hyponatremia, Hypokalemia, Elevated circulating creatinine concentration, Unconjugated hyperbilir...	ORPHA:90038
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Failure to thrive, Abnormal mitochondrial shape	ORPHA:543470
Alport Syndrome 3A, Autosomal Dominant	Azotemia, Hypophosphatemia	OMIM:104200
Familial Hyperthyroidism Due To Mutations In Tsh Receptor	Hyperactivity, Proptosis, Agitation, Hand tremor	ORPHA:424
Short-Rib Thoracic Dysplasia 19 With Or Without Polydactyly	Proptosis	OMIM:617895
Fumarase Deficiency	Hyperbilirubinemia	OMIM:606812
Dent Disease 1	Hypophosphatemia	OMIM:300009
Autosomal Recessive Robinow Syndrome	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Proptosis, Long eyelashes, Long palpebral...	ORPHA:1507
Autosomal Dominant Robinow Syndrome	Epicanthus, Curly eyelashes, Hypertelorism, Upslanted palpebral fissure, Euryblepharon, Long eyel...	ORPHA:3107
Kindler Epidermolysis Bullosa	Corneal opacity, Abnormality of skin pigmentation, Conjunctivitis, Dysphagia, Ectropion	ORPHA:2908
Specc1L-Related Hypertelorism Syndrome	Highly arched eyebrow, Hypertelorism, Proptosis, Arrhythmia, Downslanted palpebral fissures, Thic...	ORPHA:1519
Pseudoxanthoma Elasticum, Forme Fruste	Gastrointestinal hemorrhage, Angina pectoris, Cerebral hemorrhage, Retinal hemorrhage, Angioid st...	OMIM:177850
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Angina pectoris, Telangiectasia of the skin, Sudden cardiac death, R...	ORPHA:758
Granulomatosis With Polyangiitis	Gastrointestinal hemorrhage, Pericarditis, Recurrent intrapulmonary hemorrhage, Angina pectoris, ...	ORPHA:900
Gaucher Disease	Abnormal bleeding, Corneal opacity, Ataxia, Tremor, Cherry red spot of the macula, Depression, Ab...	ORPHA:355
Neu-Laxova Syndrome 1	Ablepharon, Cataract, Hypertelorism, Absent eyelashes, Proptosis, Pterygium	OMIM:256520
Restrictive Dermopathy 2	Proptosis	OMIM:619793
Sclerosteosis 1	Papilledema, Proptosis, Optic atrophy, Hypertelorism	OMIM:269500
Parenteral Nutrition-Associated Cholestasis	Conjugated hyperbilirubinemia, Hyperlipidemia, Abnormal circulating fatty-acid concentration	ORPHA:567983
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Proptosis	ORPHA:440354
Hutchinson-Gilford Progeria Syndrome	Myocardial infarction, Intracranial hemorrhage, Shallow orbits, Absent eyebrow, Hypermelanotic ma...	ORPHA:740
Primary Biliary Cholangitis	Conjugated hyperbilirubinemia, Abnormal circulating lipid concentration, Hypoalbuminemia	ORPHA:186
Isolated Thyroid-Stimulating Hormone Deficiency	Hypercholesterolemia, Abnormal circulating thyroglobulin level, Neonatal hyperbilirubinemia	ORPHA:90674
Raine Syndrome	Proptosis, Downslanted palpebral fissures, Highly arched eyebrow, Hypertelorism	OMIM:259775
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Inability to walk, Opisthotonus, Deeply set eye, Proptosis, Abnormal repetitive mannerisms	ORPHA:508533
Larsen Syndrome	Hypertelorism, Corneal opacity, Shallow orbits	OMIM:150250
Hyperthyroidism, Nonautoimmune	Hyperactivity, Tachycardia, Proptosis	OMIM:609152
Fryns Syndrome	Corneal opacity, Hypertelorism	ORPHA:2059
Branchioskeletogenital Syndrome	Telecanthus, Highly arched eyebrow, Hypertelorism, Synophrys, Blepharochalasis, Eyelid coloboma, ...	ORPHA:1299
Familial Hypocalciuric Hypercalcemia	Hypermagnesemia, Renal hypophosphatemia, Hypercalcemia, Hypocalcemic seizures	ORPHA:405
Thanatophoric Dysplasia Type 1	Proptosis	ORPHA:1860
Degcags Syndrome	Abnormal eyebrow morphology, Tachycardia, Hypopigmentation of hair, Oral-pharyngeal dysphagia, Ab...	OMIM:619488
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Increased variability in muscle fiber diameter, Ragged-red muscle fibers	ORPHA:70595
Lethal Congenital Contracture Syndrome 10	Macroglossia, Increased variability in muscle fiber diameter, Torticollis, Intrauterine growth re...	OMIM:617022
Roberts Syndrome	Cataract, Proptosis, Hypertelorism	ORPHA:3103
Cutis Laxa, Autosomal Recessive, Type Ib	Hypertelorism, Narrow palpebral fissure, Proptosis, Bradycardia, Pulmonary insufficiency, Downsla...	OMIM:614437
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Proptosis, Optic atrophy, Chorioretinal coloboma	OMIM:210730
Melnick-Needles Syndrome	Proptosis, Hypertelorism	ORPHA:2484
Apert Syndrome	Hypertelorism, Proptosis, Downslanted palpebral fissures, Shallow orbits	OMIM:101200
Opsismodysplasia	Hypophosphatemia	OMIM:258480
Caroli Syndrome	Conjugated hyperbilirubinemia, Hyperbilirubinemia	ORPHA:480520
Robinow Syndrome, Autosomal Recessive 1	Hypertelorism, Right ventricular outlet tract obstruction, Proptosis, Long eyelashes, Long palpeb...	OMIM:268310
Mucopolysaccharidosis, Type Vi	Tricuspid regurgitation, Corneal opacity, Cardiomyopathy, Mitral regurgitation, Pulmonary arteria...	OMIM:253200
Mucopolysaccharidosis Type 2, Severe Form	Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217085
Peters Plus Syndrome	Cataract, Corneal opacity, Hypertelorism, Optic atrophy, Microcornea, Upslanted palpebral fissure...	ORPHA:709
Pfeiffer Syndrome Type 1	Proptosis, Hypertelorism	ORPHA:93258
Dysostosis, Stanescu Type	Proptosis, Hypertelorism	ORPHA:1798
Mandibuloacral Dysplasia With Type B Lipodystrophy	Mottled pigmentation, Proptosis	OMIM:608612
Osteoglophonic Dysplasia	Telecanthus, Hypertelorism, Proptosis, Shallow orbits, Downslanted palpebral fissures	OMIM:166250
Mucopolysaccharidosis Type 2, Attenuated Form	Abnormality of retinal pigmentation, Papilledema, Corneal opacity, Abnormal foveal morphology, Op...	ORPHA:217093
Fraser Syndrome 1	Absent eyebrow, Corneal opacity, Hypertelorism, Absent eyelashes, Upper eyelid coloboma, Lacrimal...	OMIM:219000
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Absent eyebrow, Corneal opacity, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol...	ORPHA:2273
Thyrotoxic Periodic Paralysis	Episodic hypokalemia, Transient hypophosphatemia, Hyperkalemia, Hypomagnesemia, Mildly elevated c...	ORPHA:79102
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Hypertelorism, Downslanted palpebral fissures, Subretinal pigment epithelium hemorrhage	ORPHA:357074
Caroli Disease	Conjugated hyperbilirubinemia, Abnormal circulating alpha-fetoprotein concentration	ORPHA:53035
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 1, With Or Without Fractures	Mitral regurgitation, Proptosis, Ectopia lentis	OMIM:271640
Primary Biliary Cholangitis/Primary Sclerosing Cholangitis And Autoimmune Hepatitis Overlap Syndrome	Hyperbilirubinemia	ORPHA:562639
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Corneal opacity, Depigmentation/hyperpigmentation of skin, Generalized reticulate brown pigmentat...	ORPHA:79396
Hypothyroidism, Congenital, Nongoitrous, 2	Increased circulating thyroglobulin level, Hyperbilirubinemia	OMIM:218700
Idiopathic Aplastic Anemia	Retinal hemorrhage, Ecchymosis, Epistaxis, Gingival bleeding	ORPHA:88
Reynolds Syndrome	Calcinosis, Hyperbilirubinemia	OMIM:613471
Meier-Gorlin Syndrome 7	Heart block, Second degree atrioventricular block, Proptosis, Thin eyebrow	OMIM:617063
Fibrous Dysplasia Of Bone	Hypercalcemia, Hypophosphatemia	ORPHA:249
Lethal Congenital Contracture Syndrome 5	Subdural hemorrhage, Retinal hemorrhage	OMIM:615368
Pearson Marrow-Pancreas Syndrome	Hyperbilirubinemia	OMIM:557000
Mullegama-Klein-Martinez Syndrome	Attention deficit hyperactivity disorder, Proptosis, Curly eyelashes, Unsteady gait	OMIM:301022
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Absent eyelashes, Absent eyebrow, Proptosis	ORPHA:85199
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Increased variability in muscle fiber diameter, Muscular dystrophy	OMIM:616538
Craniosynostosis 4	Proptosis, Optic nerve hypoplasia, Hypertelorism	OMIM:600775
Myopathy, Myofibrillar, 12, Infantile-Onset, With Cardiomyopathy	Type 1 fibers relatively smaller than type 2 fibers, Facial palsy	OMIM:619424
Meningioma	Papilledema, Ataxia, Cerebral hemorrhage, Syncope, Proptosis, Difficulty walking, Emotional lability	ORPHA:2495
Otospondylomegaepiphyseal Dysplasia, Autosomal Recessive	Proptosis	OMIM:215150
Meester-Loeys Syndrome	Bruising susceptibility, Downslanted palpebral fissures, Proptosis, Hypertelorism	OMIM:300989
Hereditary Cryohydrocytosis With Reduced Stomatin	Conjugated hyperbilirubinemia	ORPHA:168577
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Corneal opacity, Congestive heart failure, Developmental cataract, Mitral r...	ORPHA:90348
Pseudoaminopterin Syndrome	Epicanthus, Highly arched eyebrow, Hypertelorism, Proptosis, Blepharophimosis	ORPHA:221120
Isolated Biliary Atresia	Conjugated hyperbilirubinemia	ORPHA:30391
Mccune-Albright Syndrome	Hypophosphatemia	ORPHA:562
Robinow Syndrome, Autosomal Dominant 1	Epicanthus, Hypertelorism, Upslanted palpebral fissure, Right ventricular outlet tract obstructio...	OMIM:180700
Camurati-Engelmann Disease	Waddling gait, Ataxia, Anorexia, Optic atrophy, Proptosis, Hypertrophic cardiomyopathy, Optic ner...	ORPHA:1328
Sponastrime Dysplasia	Microcoria, Epicanthus, Cataract, Congenital aphakia	ORPHA:93357
Pycnodysostosis	Proptosis	ORPHA:763
Pfeiffer Syndrome Type 2	Proptosis, Hypertelorism	ORPHA:93259
Fetal Akinesia Deformation Sequence 1	Telecanthus, Hypertelorism, Proptosis, Blepharophimosis, Short palpebral fissure, Ptosis	OMIM:208150
Refractory Anemia With Excess Blasts	Abnormal bleeding, Palpitations, Retinal hemorrhage	ORPHA:86839
Pearson Syndrome	Hypomagnesemia, Hypokalemia, Hypocalcemia, Hypophosphatemia, Hyperalaninemia	ORPHA:699
Limb Body Wall Complex	Lens subluxation, Corneal opacity, Iris coloboma, Hypertelorism	ORPHA:2369
Liver Disease, Severe Congenital	Hyponatremia, Elevated circulating alpha-fetoprotein concentration, Increased circulating ferriti...	OMIM:619991
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Retinal calcification, Exudative retinopathy, Vitreoretinopathy, Absent a...	OMIM:259770
Keppen-Lubinsky Syndrome	Proptosis, Opisthotonus, Shallow orbits	OMIM:614098
Pfeiffer Syndrome Type 3	Proptosis, Hypertelorism	ORPHA:93260
Catel-Manzke Syndrome	Hypertelorism, Nasolacrimal duct obstruction, Upslanted palpebral fissure, Proptosis, Thin eyebrow	OMIM:616145
Campomelic Dysplasia	Proptosis, Hypertelorism	ORPHA:140
Cranioectodermal Dysplasia 2	Hyperbilirubinemia	OMIM:613610
Thrombocytopenia-Absent Radius Syndrome	Cataract, Corneal opacity, Prolonged bleeding following circumcision, Ptosis	OMIM:274000
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2	Proptosis	OMIM:615349
Camurati-Engelmann Disease	Waddling gait, Proptosis, Optic nerve compression	OMIM:131300
Fontaine Progeroid Syndrome	Tricuspid regurgitation, Aplastic/hypoplastic lacrimal glands, Hypertelorism, Synophrys, Proptosi...	OMIM:612289
Keppen-Lubinsky Syndrome	Proptosis, Opisthotonus, Shallow orbits	ORPHA:435628
X-Linked Intellectual Disability, Nascimento Type	Neonatal hyperbilirubinemia	ORPHA:163956
Mandibuloacral Dysplasia With Type B Lipodystrophy	Proptosis, Hyperpigmentation of the skin	ORPHA:90154
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Conjugated hyperbilirubinemia	OMIM:208500
Senior-Boichis Syndrome	Increased total bilirubin	ORPHA:84081
Wiedemann-Rautenstrauch Syndrome	Cataract, Corneal opacity, Entropion, Ataxia, Lagophthalmos, Hypertelorism, Optic disc hypoplasia...	ORPHA:3455
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Proptosis	OMIM:207410
Mandibuloacral Dysplasia Progeroid Syndrome	Tricuspid regurgitation, Sparse eyebrow, Mitral regurgitation, Proptosis, Shallow orbits	OMIM:619127
Melnick-Needles Syndrome	Pulmonary arterial hypertension, Proptosis, Gait disturbance, Hypertelorism	OMIM:309350
Hyperparathyroidism-Jaw Tumor Syndrome	Hypercalcemia, Hypophosphatemia	ORPHA:99880
Rajab Interstitial Lung Disease With Brain Calcifications 1	Hypoalbuminemia, Hypocalcemia, Unconjugated hyperbilirubinemia	OMIM:613658
Parathyroid Carcinoma	Hypercalcemia, Hypophosphatemia	ORPHA:143
Holoprosencephaly 3	Cyclopia, Proptosis, Hypotelorism	OMIM:142945
Autosomal Recessive Hypophosphatemic Rickets	Hypocalcemic tetany, Hypophosphatemic rickets, Renal hypophosphatemia	ORPHA:289176
Atelosteogenesis, Type I	Proptosis, Hypertelorism	OMIM:108720
Neurooculorenal Syndrome	Iris atrophy, Highly arched eyebrow	OMIM:620305
Dent Disease	Renal hypophosphatemia, Elevated circulating creatine kinase concentration	ORPHA:1652
Fibrosis, Neurodegeneration, And Cerebral Angiomatosis	Unconjugated hyperbilirubinemia	OMIM:618278
Hardikar Syndrome	Hyperbilirubinemia	OMIM:301068
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Hyperactivity, Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Abnor...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Hyperactivity, Cataract, Highly arched eyebrow, Trichiasis, Cardiac conduction abnormality, Abnor...	ORPHA:353277
Mandibuloacral Dysplasia With Type A Lipodystrophy	Mottled pigmentation, Proptosis	OMIM:248370
Osteopetrosis, Autosomal Recessive 7	Proptosis, Optic atrophy, Optic nerve compression	OMIM:612301
Loeys-Dietz Syndrome 3	Cataract, Atrial fibrillation, Subarachnoid hemorrhage, Hypertelorism, Mitral regurgitation, Prop...	OMIM:613795
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Abnormal circulating porphyrin concentration, Reduced haptoglobi...	ORPHA:79277
Multiple Endocrine Neoplasia Type 2	Hypertensive crisis, Palpitations, Prominent corneal nerve fibers, Hypertension associated with p...	ORPHA:653
Schinzel-Giedion Syndrome	Hypertelorism, Proptosis, Dysphagia, Shallow orbits	ORPHA:798
Autosomal Recessive Malignant Osteopetrosis	Hypocalcemia, Hypophosphatemia	ORPHA:667
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Hyperbilirubinemia	OMIM:210710
Yellow Fever	Elevated circulating creatinine concentration, Elevated circulating creatine kinase concentration...	ORPHA:99829
Beckwith-Wiedemann Syndrome	Choroideremia, Hypertrophic cardiomyopathy, Proptosis, Melanocytic nevus	ORPHA:116
Osteogenesis Imperfecta	Aortic regurgitation, Corneal opacity, Ataxia, Cerebral hemorrhage, Gait disturbance, Dysphagia, ...	ORPHA:666
Pallister-Killian Syndrome	Telecanthus, Cataract, Sparse eyelashes, Epicanthus, Hypertelorism, Sparse eyebrow, Inability to ...	OMIM:601803
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Loss of eyelashes, Downslanted palpebral fissures, Proptosis, Thin eyebrow	ORPHA:2636
X-Linked Hypophosphatemia	Hypophosphatemia	ORPHA:89936
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Unconjugated hyperbilirubinemia	OMIM:620186
Viss Syndrome	Ptosis, Epidural hemorrhage, Retinal detachment, Hypertelorism, Deeply set eye, Proptosis, Dyspha...	OMIM:619472
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Proptosis	ORPHA:93315
Mitochondrial Myopathy And Sideroblastic Anemia	Myopathy, Generalized limb muscle atrophy, Delayed puberty	ORPHA:2598
Biliary, Renal, Neurologic, And Skeletal Syndrome	Conjugated hyperbilirubinemia, Increased circulating ferritin concentration, Elevated circulating...	OMIM:619534
Robinow Syndrome	Proptosis, Pulmonic stenosis, Hypertelorism	ORPHA:97360
Paroxysmal Nocturnal Hemoglobinuria	Unconjugated hyperbilirubinemia, Reduced haptoglobin level, Decreased serum iron, Increased blood...	ORPHA:447
Craniosynostosis And Dental Anomalies	Papilledema, Proptosis, Downslanted palpebral fissures, Hypertelorism	OMIM:614188
Osteogenesis Imperfecta, Type Viii	Proptosis	OMIM:610915
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Proptosis, Hypertelorism	OMIM:130070
Congenital Disorder Of Glycosylation, Type Iim	Neonatal hyperbilirubinemia	OMIM:300896
Generalized Arterial Calcification Of Infancy	Choroidal neovascularization, Transient ischemic attack, Abnormal retinal artery morphology, Reti...	ORPHA:51608
Orofaciodigital Syndrome Type 4	Proptosis, Hypertelorism	ORPHA:2753
Isolated Exencephaly	Proptosis	ORPHA:563612
Loeys-Dietz Syndrome 1	Proptosis, Hypertelorism	OMIM:609192
Beckwith-Wiedemann Syndrome	Cardiomyopathy, Proptosis	OMIM:130650
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Proptosis, Hypertelorism	OMIM:271665
Loeys-Dietz Syndrome 2	Proptosis, Hypertelorism	OMIM:610168
Johanson-Blizzard Syndrome	Conjugated hyperbilirubinemia, Hypocalcemia, Increased VLDL cholesterol concentration	OMIM:243800
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Hypertension, Proptosis, Hypertelorism	OMIM:201750
Osteogenesis Imperfecta, Type Vii	Proptosis	OMIM:610682

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 Pus1

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 Pus1.

There are 4 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
A Genome-Wide Screen in Mice To Identify Cell-Extrinsic Regulators of Pulmonary Metastatic Colonisation.	G3 (Bethesda, Md.) (June 2020)	Pus10^{tm1a(EUCOMM)Hmgu} Pus10^{tm1b(EUCOMM)Hmgu}	PMC7263671
Large-scale neuroanatomical study uncovers 198 gene associations in mouse brain morphogenesis.	Nature communications (August 2019)	Pus10^{tm1b(EUCOMM)Hmg}	PMC6671969
Mouse screen reveals multiple new genes underlying mouse and human hearing loss.	PLoS biology (April 2019)	Pus10^{tm1b(EUCOMM)Hmg}	PMC6459510
Genome wide in vivo mouse screen data from studies to assess host regulation of metastatic colonisation.	Scientific data (September 2017)	Pus10^{tm1b(EUCOMM)Hmgu}	PMC5827107

Order Mouse and ES Cells

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
Pus1^em1(IMPC)J	Exon Deletion	Mice
Pus1^{tm1a(EUCOMM)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Pus1^{tm43391(L1L2_st0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Pus1^{tm1e(EUCOMM)Wtsi}	Targeted, non-conditional allele	ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us

Gene: Pus1 MGI:1929237

Gene Summary

IMPC Data Collections

IMPC Phenotype Summary

Phenotypes

lacZ Expression

Associated Images

Eye Morphology

Auditory Brain Stem Response

Electrocardiogram (ECG)

Human diseases caused by Pus1 mutations

Histopathology

IMPC related publications

Order Mouse and ES Cells

The IMPC Newsletter

Access Data Release 20.1 Data