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Gene: Lmx1b MGI:1100513

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

LIM homeobox transcription factor 1 beta

Synonyms:

LMX1.2, Icst, GENA 191

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Lmx1b 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 Lmx1b (5 diseases)
Human diseases predicted to be associated with Lmx1b (1444 diseases)

The table below shows human diseases associated to Lmx1b by orthology or direct annotation.

Disease	Matching phenotypes	Source
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Thickening of the lat...	OMIM:161200
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus...	ORPHA:2614
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Highly arched eyebrow, Abnormal hair pa...	ORPHA:495818
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Nail-Patella-Like Renal Disease	Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613

The table below shows human diseases predicted to be associated to Lmx1b by phenotypic similarity.

Disease	Matching phenotypes	Source
Anterior Segment Dysgenesis 7	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Buphthalmos, Anterior ...	OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Retinal detachment, Cataract, Retinal dystrophy, Macular atrophy, Corneal scarring, Buphthalmos, ...	OMIM:212550
Glaucoma 3, Primary Congenital, E	Ocular hypertension, Corneal stromal edema, Glaucoma, Increased cup-to-disc ratio, Megalocornea	OMIM:617272
Anterior Segment Dysgenesis 5	Hypoplasia of the fovea, Rieger anomaly, Sclerocornea, Developmental cataract, Microcornea, Hypop...	OMIM:604229
Posterior Polymorphous Corneal Dystrophy	Increased corneal curvature, Corneal opacity, Chorioretinal degeneration, Ocular hypertension, Uv...	ORPHA:98973
Glaucoma, Primary Closed-Angle	Anterior synechiae of the anterior chamber, Increased cup-to-disc ratio, Angle closure glaucoma, ...	OMIM:618880
Corneal Dystrophy, Posterior Polymorphous, 1	Polymorphous posterior corneal dystrophy, Iris atrophy, Corneal opacity, Band keratopathy, Uveal ...	OMIM:122000
Peters Anomaly	Central opacification of the cornea, Developmental glaucoma, Anterior synechiae of the anterior c...	ORPHA:708
Anterior Segment Dysgenesis 6	Corneal opacity, Abnormal Descemet membrane morphology, Developmental glaucoma, Posterior synechi...	OMIM:617315
Norrie Disease	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Leukocoria, Hypoplasia of the iris,...	OMIM:310600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma	Iridodonesis, Ectopia lentis, Microspherophakia, Deep anterior chamber, Buphthalmos, Glaucoma, Me...	OMIM:251750
Macrophthalmia, Colobomatous, With Microcornea	Flat cornea, Macular atrophy, Ocular hypertension, Optic disc coloboma, Increased axial length of...	OMIM:602499
Herpes Simplex Virus Stromal Keratitis	Keratitis, Deep anterior chamber, Herpetiform corneal ulceration, Corneal stromal edema, Open ang...	ORPHA:137599
Corneal Dystrophy, Fuchs Endothelial, 1	Corneal dystrophy, Corneal stromal edema, Corneal guttata, Corneal degeneration, Descemet Membran...	OMIM:136800
Pupillary Membrane, Persistence Of	Developmental cataract, Megalocornea, Persistent pupillary membrane	OMIM:178900
Bilateral Acute Depigmentation Of The Iris	Iris pigment dispersion, Abnormal corneal endothelium morphology, Abnormal iris pigmentation, Pig...	ORPHA:69736
Corneal Dystrophy, Fuchs Endothelial, 6	Corneal dystrophy, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corne...	OMIM:613270
Autosomal Dominant Keratitis	Hypoplasia of the fovea, Cataract, Keratitis, Abnormal corneal limbus morphology, Bilateral micro...	ORPHA:2334
Lattice Corneal Dystrophy Type I	Subepithelial corneal opacities, Corneal opacity, Central opacification of the cornea, Corneal sc...	ORPHA:98964
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Corneal opacity, Remnants of the hyaloid vascular system, Phthisis bulbi, Hyphema, Leuk...	OMIM:221900
Corneal Dystrophy, Lattice Type I	Lattice corneal dystrophy, Recurrent corneal erosions	OMIM:122200
Neovascular Glaucoma	Retinal detachment, Abnormal posterior eye segment morphology, Iris neovascularization, Ocular hy...	ORPHA:94058
Corneal Dystrophy, Fuchs Endothelial, 3	Corneal stromal edema, Corneal opacity, Corneal guttata	OMIM:613267
Microphthalmia, Isolated 6	Microcornea, Microphthalmia, Retinal fold, Ocular hypertension	OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 2	Corneal opacity, Corneal dystrophy	OMIM:609140
Corneal Dystrophy, Epithelial Basement Membrane	Map-dot-fingerprint corneal dystrophy, Corneal dystrophy, Recurrent corneal erosions	OMIM:121820
Amoebic Keratitis	Iris atrophy, Anterior uveitis, Cataract, Abnormal posterior eye segment morphology, Abnormal cor...	ORPHA:67043
Microphthalmia, Isolated, With Coloboma 10	Anophthalmia, Microcoria, Optic pit, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:616428
X-Linked Corneal Dermoid	Abnormal pupil morphology, Corneal opacity	ORPHA:1661
Corneal Dystrophy, Fuchs Endothelial, 2	Corneal degeneration, Corneal dystrophy, Corneal guttata	OMIM:610158
Vitreoretinal Degeneration, Snowflake Type	Retinal detachment, Cataract, Snowflake vitreoretinal degeneration, Optically empty vitreous, Ret...	OMIM:193230
Glaucoma 3, Primary Congenital, D	Corneal opacity, Primary congenital glaucoma, Ectopia lentis	OMIM:613086
Corneal Dystrophy, Endothelial, X-Linked	Corneal opacity, Corneal dystrophy, Band keratopathy	OMIM:300779
Fuchs Heterochromic Iridocyclitis	Anterior chamber inflammatory cells, Iris atrophy, Papilledema, Cataract, Optic disc pallor, Reti...	ORPHA:263479
Corneal Dystrophy, Fuchs Endothelial, 4	Corneal dystrophy, Corneal guttata	OMIM:613268
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Reduced number of corneal endothelial cells, Abnormal De...	ORPHA:98974
Corneal Endothelial Dystrophy	Abnormal Descemet membrane morphology, Increased corneal thickness, Corneal dystrophy, Opacificat...	OMIM:217700
Corneal Dystrophy-Perceptive Deafness Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:1490
Corneal Dystrophy, Thiel-Behnke Type	Corneal dystrophy, Corneal scarring, Juvenile epithelial corneal dystrophy	OMIM:602082
Limbal Stem Cell Deficiency	Opacification of the corneal epithelium, Generalized opacification of the cornea, Keratitis, Corn...	ORPHA:171673
Galactosialidosis	Cherry red spot of the macula, Corneal opacity	ORPHA:351
Congenital Hereditary Endothelial Dystrophy Type Ii	Increased corneal thickness, Corneal opacity, Abnormal Descemet membrane morphology, Irregular as...	ORPHA:293603
Persistent Hyperplastic Primary Vitreous	Glial remnants anterior to the optic disc, Cataract, Corneal opacity, Hyaloid vascular remnant an...	ORPHA:91495
Epithelial Recurrent Erosion Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Irregular astigmatism, Corneal scarring, Kera...	ORPHA:293381
Corneal Dystrophy, Posterior Polymorphous, 3	Keratoconus, Inguinal hernia, Corneal dystrophy, Ectopia pupillae, Corneal guttata	OMIM:609141
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome	Optic disc pallor, Ocular hypertension, Band keratopathy, Hypoplasia of the iris, Anterior synech...	OMIM:614195
Exfoliation Syndrome	Cataract, Abnormal lens morphology, Anisocoria, Pseudoexfoliation, Pigment deposition in the trab...	OMIM:177650
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Microphthalmia, Corneal opacity	ORPHA:2432
Hereditary Liability to Pressure Palsies (HNPP)	Abnormal motor neuron morphology	DECIPHER:31
Corneal Dystrophy, Fuchs Endothelial, 8	Corneal dystrophy, Corneal guttata	OMIM:615523
Corneal Dystrophy, Lattice Type Iiia	Corneal erosion, Lattice corneal dystrophy	OMIM:608471
Cataract 50 With Or Without Glaucoma	Glaucoma, Retinal detachment, Cataract, Persistent pupillary membrane	OMIM:620253
Neurotrophic Keratopathy	Anterior uveitis, Abnormal fifth cranial nerve morphology, Corneal scarring, Corneal stromal edem...	ORPHA:137596
Corneal Dystrophy, Lisch Epithelial	Corneal dystrophy	OMIM:300778
Macular Dystrophy, Corneal	Punctate opacification of the cornea, Macular dystrophy, Corneal dystrophy, Recurrent corneal ero...	OMIM:217800
Ulnar Hemimelia	Glenoid fossa hypoplasia, Limited elbow movement, Osteoarthritis, Abnormal calcification of the c...	ORPHA:93320
Iridocorneal Endothelial Syndrome	Iris atrophy, Central heterochromia, Uveal ectropion, Abnormal migration of corneal endothelium, ...	ORPHA:64734
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Retinal detachment, Cataract, Corneal opacity, Optic atrophy, Hematuria, Glaucoma, Chorioretinal ...	ORPHA:1473
Pelvis-Shoulder Dysplasia	Congenital hip dislocation, Hypoplastic scapulae, Hypoplastic ilia, Hypoplastic acetabulae, Short...	OMIM:169550
Anterior Segment Dysgenesis 2	Cataract, Corneal opacity, Sclerocornea, Ocular hypertension, Microcornea, Posterior synechiae of...	OMIM:610256
Cataract-Microcornea Syndrome	Cataract, Corneal opacity, Corneal dystrophy, Microcornea, Iris coloboma	ORPHA:1377
Vernal Keratoconjunctivitis	Scarring, Abnormal cornea morphology, Abnormal conjunctiva morphology, Punctate keratitis, Cornea...	ORPHA:70476
Fibrochondrogenesis 1	Narrow greater sciatic notch, Short palm, Clinodactyly of the 5th finger, Megalocornea, Widely pa...	OMIM:228520
Dermoids Of Cornea	Corneal opacity	OMIM:304730
Glaucoma 3, Primary Congenital, A	Buphthalmos, Late onset congenital glaucoma, Ocular hypertension	OMIM:231300
Iris Pigment Epithelium Anomalies	Iris cyst	OMIM:601616
Blepharoptosis, Myopia, And Ectopia Lentis	Increased axial length of the globe, Ectopia lentis	OMIM:110150
Spinal Muscular Atrophy, Segmental	Abnormal anterior horn cell morphology	OMIM:183020
X-Linked Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Nuclear cataract, Corneal opacity, Band keratopathy	ORPHA:293621
Nail-Patella Syndrome	Biceps aplasia, Glenoid fossa hypoplasia, Patellar hypoplasia, Microcornea, Thickening of the lat...	OMIM:161200
Birdshot Chorioretinopathy	Retinal detachment, Optic disc pallor, Cataract, Abnormal chorioretinal morphology, Choroidal neo...	ORPHA:179
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome	Corneal opacity, Corneal dystrophy	ORPHA:3177
Mucous Membrane Pemphigoid	Atypical scarring of skin, Corneal opacity	ORPHA:46486
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Ocular hypertension, Peters anomaly, Microphthalmia, Ocular anterior segment dysgenesis, Iris col...	OMIM:610023
Phacoanaphylactic Uveitis	Abnormal pupil morphology, Vitritis, Pseudophakia, Posterior uveitis, Corneal keratic precipitate...	ORPHA:209959
Anterior Segment Dysgenesis 3	Rieger anomaly, Glaucoma, Ectopia pupillae, Hypoplastic iris stroma, Axenfeld anomaly, Peters ano...	OMIM:601631
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features	Hypoplasia of the fovea, Iris cyst, Optic atrophy	OMIM:620086
Léri-Weill Dyschondrosteosis	Micromelia, Abnormal tibia morphology, Abnormal carpal morphology, Abnormal femur morphology, Tib...	ORPHA:240
Corneal Dystrophy, Congenital Stromal	Increased corneal thickness, Corneal dystrophy, Corneal erosion, Glaucoma, Band-shaped corneal dy...	OMIM:610048
Cataract 21, Multiple Types	Retinal detachment, Corneal opacity, Cerulean cataract, Microcornea, Cortical pulverulent catarac...	OMIM:610202
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Cerebellar vermis hypoplasia, Facial palsy, Hydrocephalus, Developmental cataract, Abnormal left ...	OMIM:613155
Aniridia 1	Hypoplasia of the fovea, Anterior subcapsular cataract, Cataract, Optic nerve hypoplasia, Ectopia...	OMIM:106210
Insensitivity To Pain, Congenital, With Anhidrosis	Postural hypotension with compensatory tachycardia, Keratitis, Corneal scarring, Abnormal autonom...	OMIM:256800
Weill-Marchesani Syndrome 4	Iridodonesis, Ectopia lentis, Ocular hypertension, Glaucoma, Shallow anterior chamber, Posterior ...	OMIM:613195
Thiel-Behnke Corneal Dystrophy	Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Recurrent corneal erosio...	ORPHA:98960
Anterior Segment Dysgenesis 8	Iridodonesis, Cataract, Ectopia lentis, Uveal ectropion, Optic nerve dysplasia, Hypoplasia of the...	OMIM:617319
Insulinomatosis And Diabetes Mellitus	Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental cataract	OMIM:147630
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cerebellar dysplasia, Cataract, Optic nerve hypoplasia, Hypoplasia of the pons, Hydrocephalus, Hy...	OMIM:615181
Gelatinous Drop-Like Corneal Dystrophy	Subepithelial corneal opacities, Conjunctival amyloidosis, Corneal neovascularization, Central op...	ORPHA:98957
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Subretinal fluid, Exudative retinal detachment, Abnorma...	ORPHA:209956
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Aplasia/Hypoplasia of the iris, Cataract, Corneal opacity, Persistent pupillary membrane	ORPHA:1067
Morquio Syndrome C	Corneal opacity	OMIM:252300
Intermediate Uveitis	Anterior uveitis, Cataract, Macular scar, Band keratopathy, Vitreous haze, Epiretinal membrane, V...	ORPHA:279914
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly	Congenital hip dislocation, Abnormal finger flexion crease, Aplasia/Hypoplasia of the 5th finger,...	OMIM:228930
Nail-Patella Syndrome	Abnormal tibia morphology, Abnormal femur morphology, Patellar hypoplasia, Talipes calcaneovalgus...	ORPHA:2614
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cerebellar atrophy, Optic disc pallor, Cataract, Hypoplasia of the pons, Partial agenesis of the ...	OMIM:616171
Microcoria, Congenital	Glaucoma, Microcoria, Hypoplasia of the iris dilator muscle, Ocular hypertension	OMIM:156600
Stickler Syndrome Type 2	Retinal detachment, Cataract, Corneal opacity, Abnormal vitreous humor morphology, Retinopathy	ORPHA:90654
Oculoauricular Syndrome	Sclerocornea, Microcornea, Iris cyst, Chorioretinal coloboma, Ocular anterior segment dysgenesis,...	OMIM:612109
Megalocornea	Iridodonesis, Retinal detachment, Cataract, Mosaic corneal dystrophy, Deep anterior chamber, Glau...	OMIM:309300
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	Corneal ulceration, Corneal scarring	OMIM:616488
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Agenesis of cerebellar vermis, Corneal opacity, Cataract, Hypoplasia of the pons, Hydrocephalus, ...	OMIM:613153
Cousin Syndrome	Micrognathia, Prominent protruding coccyx, Low anterior hairline, Microcornea, Hypoplastic iliac ...	OMIM:260660
Winchester Syndrome	Corneal opacity	OMIM:277950
Corneal Dystrophy, Groenouw Type I	Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Epithelial Recurrent Erosion Dystrophy	Corneal erosion	OMIM:122400
Tibial Aplasia-Ectrodactyly Syndrome	Finger syndactyly, Short femur, Preaxial hand polydactyly, Postaxial hand polydactyly, Split hand...	ORPHA:3329
Charcot-Marie-Tooth Disease Type 1B	Decreased nerve conduction velocity, Peripheral axonal neuropathy, Abnormal pupil morphology, Per...	ORPHA:101082
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy	Buphthalmos, Cataract, Retinal dystrophy	ORPHA:370997
Holt-Oram Syndrome	Syndactyly, Thoracic scoliosis, Hypoplasia of the ulna, Short humerus, Aplasia of the ulna, Absen...	OMIM:142900
Tetralogy Of Fallot And Glaucoma	Developmental glaucoma	OMIM:187501
Developmental Malformations-Deafness-Dystonia Syndrome	Death in early adulthood, Cataract, Hypoplastic scapulae, Femoral retroversion, Micromelia, Dysph...	ORPHA:79107
Bilateral Striopallidodentate Calcinosis	Corneal opacity	ORPHA:1980
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Corneal opacity, Abnormal cerebellum morphology, Hydrocephalus, Abn...	ORPHA:1532
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Cataract, Retinal dystrophy, Buphthalmos, Glaucoma, Microphthalmia	OMIM:616538
Autosomal Recessive Spastic Paraplegia Type 25	Developmental glaucoma, Abnormality of peripheral nerve conduction, Developmental cataract	ORPHA:101005
Juvenile Glaucoma	Optic neuropathy, Ocular hypertension, Abnormality iris morphology, Retinal arterial occlusion, R...	ORPHA:98977
Thrombocytopenia-Absent Radius Syndrome	Ureteral duplication, Edema of the dorsum of feet, Micrognathia, Lateral clavicle hook, Femoral b...	OMIM:274000
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Death in infancy, Cataract, Buphthalmos, Glaucoma, Congenital contracture, Persistent pupillary m...	OMIM:613150
Idiopathic Panuveitis	Cataract, Choroidal neovascularization, Vitreous haze, Ocular hypertension, Epiretinal membrane, ...	ORPHA:280921
Microphthalmia, Isolated 2	Microphthalmia, Opacification of the corneal stroma	OMIM:610093
Schnyder Corneal Dystrophy	Corneal dystrophy, Crystalline corneal dystrophy	OMIM:121800
Central Cloudy Dystrophy Of Francois	Central corneal dystrophy, Corneal dystrophy	OMIM:217600
Glaucoma 3, Primary Infantile, B	Primary congenital glaucoma	OMIM:600975
Cataract 9, Multiple Types	Progressive cataract, Cataract, Developmental cataract, Microcornea, Glaucoma, Microphthalmia, Ir...	OMIM:604219
Pelvis-Shoulder Dysplasia	Aplasia/Hypoplasia of the scapulae, Aplasia/Hypoplasia of the fibula, Micrognathia, Prominent pro...	ORPHA:2839
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Decreased distal sensory nerve action potential, Developmental glaucoma, Optic atrophy,...	ORPHA:99956
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs	Iris atrophy, Cataract, Ectopia lentis, Ocular hypertension, Spherophakia, Anterior synechiae of ...	OMIM:601552
Severe Early-Childhood-Onset Retinal Dystrophy	Retinal detachment, Bone spicule pigmentation of the retina, Rhegmatogenous retinal detachment, A...	ORPHA:364055
Dystonia-Deafness Syndrome 1	Cataract, Hypoplastic scapulae, Femoral retroversion, Pseudobulbar paralysis, Dysphagia	OMIM:607371
Lissencephaly 8	Occipital encephalocele, Cataract, Optic atrophy, Retrocerebellar cyst, Hypoplasia of the brainst...	OMIM:617255
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	Microcornea, Anterior synechiae of the anterior chamber, Iris coloboma, Iris hypopigmentation	ORPHA:3214
Primary Lateral Sclerosis, Adult, 1	Abnormal upper motor neuron morphology	OMIM:611637
Distal Deletion 6P	Posterior embryotoxon, Corneal opacity, Hypoplasia of the iris, Anterior synechiae of the anterio...	ORPHA:96125
Retinal Dystrophy And Iris Coloboma With Or Without Cataract	Retinal atrophy, Posterior synechiae of the anterior chamber, Iris coloboma, Developmental cataract	OMIM:616722
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Keratoconjuncti...	OMIM:148210
Brittle Cornea Syndrome	Retinal detachment, Corneal dystrophy, Corneal erosion, Corneal scarring, Glaucoma, Keratoglobus,...	ORPHA:90354
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension	Pes planus, Short femur, Sandal gap, Tarsal synostosis, Wide capital femoral epiphyses, Micrognat...	OMIM:147891
Dyggve-Melchior-Clausen Disease	Metaphyseal widening, Flat glenoid fossa, Short metatarsal, Femoral bowing, Pectus carinatum, Tib...	OMIM:223800
Acheiropody	Carpal bone aplasia, Short humerus, Peromelia, Aplasia of the phalanges of the hand, Aplasia of t...	OMIM:200500
Weill-Marchesani Syndrome 3	Ocular hypertension, Ectopia lentis, Microspherophakia, Shallow anterior chamber, Pulmonic stenos...	OMIM:614819
Atopic Keratoconjunctivitis	Corneal opacity, Keratitis, Keratoconjunctivitis sicca, Chemosis, Corneal neovascularization	ORPHA:163934
Keratitis, Hereditary	Keratitis, Opacification of the corneal stroma	OMIM:148190
Uveal Melanoma	Retinal detachment, Iris melanoma, Ocular hypertension, Inferior lens subluxation, Abnormal fundu...	ORPHA:39044
Microphthalmia, Isolated, With Cataract 1	Microphthalmia, Cataract	OMIM:156850
Spinocerebellar Degeneration And Corneal Dystrophy	Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma	OMIM:271310
Sympathetic Ophthalmia	Papilledema, Retinal detachment, Cataract, Ocular hypertension, Vitreous floaters, Vitritis, Reti...	ORPHA:79098
Microphthalmia, Isolated, With Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Tyrosinemia, Type Ii	4-Hydroxyphenylpyruvic aciduria, Herpetiform corneal ulceration	OMIM:276600
Acromesomelic Dysplasia 2A	Hypoplasia of the ulna, Short humerus, Short femur, Death in infancy, Aplasia/Hypoplasia of the p...	OMIM:200700
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant	Death in infancy, Corneal opacity, Hypospadias, Flexion contracture, Dilated cardiomyopathy, Deve...	OMIM:618815
Coxopodopatellar Syndrome	Abnormality of the knee, Aplasia/Hypoplasia of the patella, Abnormal pelvic girdle bone morpholog...	ORPHA:1509
Cornea Plana 2, Autosomal Recessive	Flat cornea, Corneal opacity, Sclerocornea, Corneal arcus, Decreased corneal thickness, Microphth...	OMIM:217300
Agel Amyloidosis	Cataract, Proteinuria, Facial palsy, Stage 5 chronic kidney disease, Glaucoma, Cardiomyopathy, Ke...	ORPHA:85448
Congenital Muscular Dystrophy With Cerebellar Involvement	Dilated fourth ventricle, Occipital encephalocele, Fusion of the cerebellar hemispheres, Cataract...	ORPHA:370959
Kleeblattschaedel	Recurrent corneal erosions	OMIM:148800
Schneckenbecken Dysplasia	Hypoplastic scapulae, Anterior rib cupping, Dumbbell-shaped long bone, Thoracic hypoplasia, Later...	OMIM:269250
Pierson Syndrome	Rieger anomaly, Cataract, Hypoplasia of the ciliary body, Uveal ectropion, Retinal hemorrhage, Hy...	OMIM:609049
Roberts Syndrome	Aplasia/Hypoplasia of the thumb, Proximal placement of thumb, Micrognathia, Knee flexion contract...	ORPHA:3103
Thanatophoric Dysplasia, Type Ii	Small abnormally formed scapulae, Micromelia, Hypoplastic ilia, Wide-cupped costochondral junctio...	OMIM:187601
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
Microphthalmia, Isolated, With Coloboma 5	Anophthalmia, Bilateral microphthalmos, Holoprosencephaly, Chorioretinal coloboma, Microphthalmia...	OMIM:611638
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Flexion contracture, Microphthalmia, Retinal degeneration	OMIM:615249
Optic Atrophy 3, Autosomal Dominant	Optic disc pallor, Cataract, Optic atrophy	OMIM:165300
Corneal Dystrophy And Perceptive Deafness	Corneal dystrophy, Opacification of the corneal stroma	OMIM:217400
Neuropathy, Hereditary Sensory And Autonomic, Type Iii	Orthostatic hypotension, Tachycardia, Decreased number of large peripheral myelinated nerve fiber...	OMIM:223900
Anterior Segment Dysgenesis 1	Ocular hypertension, Microcornea, Opacification of the corneal stroma, Peters anomaly, Posterior ...	OMIM:107250
Joubert Syndrome 13	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:614173
Van Den Ende-Gupta Syndrome	Glenoid fossa hypoplasia, Sclerocornea, Micrognathia, Lateral clavicle hook, 2-3 toe cutaneous sy...	OMIM:600920
Congenital Primary Aphakia	Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea, Retinal dysplasia, Mi...	ORPHA:83461
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia	Corneal dystrophy, Developmental cataract	OMIM:271320
Acheiropodia	Short humerus, Aplasia of the ulna, Absent radius, Absent hand, Upper limb phocomelia, Abnormal e...	ORPHA:931
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia	Amyotrophic lateral sclerosis	OMIM:616208
Charcot-Marie-Tooth syndrome type 1A (CMT1A)	Abnormal motor neuron morphology	DECIPHER:29
Keratoendotheliitis Fugax Hereditaria	Keratitis, Conjunctival hyperemia, Epiretinal membrane, Opacification of the corneal stroma	OMIM:148200
Late-Onset Retinal Degeneration	Iris atrophy, Multifocal subretinal deposits, Choroidal neovascularization, Macular atrophy, Ocul...	ORPHA:67042
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Occipital encephalocele, Hydrocephalus, Developmental cataract, Cerebellar malformation, Micropht...	ORPHA:324416
Coloboma, Ocular, Autosomal Dominant	Optic nerve aplasia, Corneal opacity, Remnants of the hyaloid vascular system, Morning glory anom...	OMIM:120200
Corneal Dystrophy, Reis-Bucklers Type	Corneal erosion, Corneal opacity, Corneal dystrophy, Opacification of the corneal stroma	OMIM:608470
Spastic Ataxia-Corneal Dystrophy Syndrome	Optic atrophy, Corneal dystrophy, Developmental cataract	ORPHA:2572
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Rieger anomaly, Abnormal auditory evoked potentials, Hydrocephalus, Agenesis of corpus callosum, ...	OMIM:109120
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Distal symphalangism, Coxa vara, Tibial bowing, Narrow chest, Hypoplastic iliac wing, Clinodactyl...	OMIM:210720
Ectopia Lentis Et Pupillae	Retinal detachment, Cataract, Ectopia lentis, Iris transillumination defect, Ectopia pupillae, Pe...	OMIM:225200
Foveal Hypoplasia 2	Hypoplasia of the fovea, Astigmatism, Axenfeld anomaly, Foveal hyperpigmentation, Optic nerve mis...	OMIM:609218
Microcephaly, Short Stature, And Limb Abnormalities	11 pairs of ribs, Short metacarpal, Brachydactyly, Hypoplasia of the radius, Patellar aplasia, Pa...	OMIM:617604
Platyspondylic Dysplasia, Torrance Type	Bowing of the long bones, Hypoplastic scapulae, Micromelia, Short thorax, Abnormal carpal morphol...	ORPHA:85166
Xfe Progeroid Syndrome	Renal insufficiency, Proteinuria, Absence of subcutaneous fat, Optic atrophy, Corneal scarring, D...	OMIM:610965
Xeroderma Pigmentosum, Complementation Group D	Cataract, Keratitis, Telangiectasia, Keratoconjunctivitis sicca, Conjunctivitis, Microphthalmia, ...	OMIM:278730
Granular Corneal Dystrophy Type I	Subepithelial corneal opacities, Abnormal corneal epithelium morphology, Central opacification of...	ORPHA:98962
Corneal Dystrophy, Posterior Amorphous	Ectopia pupillae, Iris coloboma, Corneal dystrophy	OMIM:612868
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Iris coloboma, Inferior chorioretinal coloboma	OMIM:614497
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Retinal detachment, Rieger anomaly, Nephrolithiasis, Primary congenital glaucoma, Buphthalmos	ORPHA:521445
Cleidocranial Dysplasia	Micrognathia, Coxa vara, Narrow chest, Hypoplastic inferior ilia, Clinodactyly of the 5th finger,...	ORPHA:1452
Epiphyseal Dysplasia, Multiple, With Miniepiphyses	Epiphyseal dysplasia, Patellar hypoplasia, Short femoral neck, Irregular patellae, Broad femoral ...	OMIM:609325
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Flexion contracture, Corneal scarring, Atrophic scars, Conjunctivitis, Enamel hypoplasia	OMIM:226600
Familial Pterygium Of The Conjunctiva	Opacification of the corneal stroma	ORPHA:2989
Amyotrophic Lateral Sclerosis, Susceptibility To, 25	Amyotrophic lateral sclerosis	OMIM:617921
Meier-Gorlin Syndrome 1	Genu recurvatum, Micrognathia, Lateral clavicle hook, Flat glenoid fossa, Pectus carinatum, Cutan...	OMIM:224690
Encephalocraniocutaneous Lipomatosis	Sclerocornea, Hydrocephalus, Hypoplasia of the iris, Cerebellar hypoplasia, Limbal dermoid, Micro...	OMIM:613001
Woolly Hair	Abnormal pupil morphology, Cataract, Abnormal retinal morphology	ORPHA:170
Ring Dermoid Of Cornea	Corneal astigmatism, Abnormal corneal limbus morphology, Abnormal cornea morphology, Abnormal con...	OMIM:180550
Spondyloperipheral Dysplasia-Short Ulna Syndrome	Hypoplasia of the ulna, Cataract, Broad hallux, Talipes, Limited elbow extension, Short metatarsa...	ORPHA:1856
Microphthalmia, Isolated, With Coloboma 3	Microphthalmia, Cataract, Iris coloboma	OMIM:610092
Corneal Dystrophy, Meesmann, 2	Recurrent corneal erosions	OMIM:618767
X-Linked Recessive Ocular Albinism	Hypoplasia of the fovea, Abnormal pupil morphology, Ocular albinism, Astigmatism, Abnormal macula...	ORPHA:54
Khan-Khan-Katsanis Syndrome	Ureteral duplication, Tricuspid regurgitation, Renal hypoplasia, Renal cyst, Corneal scarring, Bu...	OMIM:618460
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation	Aniridia, Developmental glaucoma, Unilateral renal agenesis	OMIM:206750
Alexander Disease	Microcoria, Death in adolescence, Death in infancy, Death in childhood	OMIM:203450
Myopathy, Tubular Aggregate, 1	Joint contracture, Abnormal pupil morphology, Flexion contracture	OMIM:160565
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly	Micromelia, Renal cyst, Thoracic dysplasia, Narrow chest, Sparse hair, Syndactyly, Hypospadias, R...	OMIM:614091
Axenfeld-Rieger Syndrome, Type 3	Hypoplasia of the iris, Glaucoma, Ectopia pupillae, Posterior synechiae of the anterior chamber, ...	OMIM:602482
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14	Abnormal lower motor neuron morphology	OMIM:607641
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Hypoplasia of penis, Talipes, Micromelia, Micrognathia, ...	ORPHA:2879
Coats Disease	Aplasia/Hypoplasia of the iris, Cataract, Abnormal anterior chamber morphology	ORPHA:190
Anterior Segment Dysgenesis 4	Hypoplastic iris stroma, Iris hypopigmentation	OMIM:137600
Pelviscapular Dysplasia	Congenital hip dislocation, Short femur, Hypoplastic scapulae, Hypoplastic ilia, Humeroradial syn...	ORPHA:93333
Mucolipidosis Iv	Optic atrophy, Retinal degeneration, Corneal opacity, Opacification of the corneal stroma	OMIM:252650
Mosaic Trisomy 8	Corneal opacity, Camptodactyly of finger, Micrognathia, Patellar aplasia, Abnormal rib morphology...	ORPHA:96061
Wagner Vitreoretinopathy	Cataract, Retinal pigment epithelial atrophy, Optically empty vitreous, Chorioretinal atrophy, Op...	OMIM:143200
9Q33.3Q34.11 Microdeletion Syndrome	Prominent metopic ridge, Single transverse palmar crease, Highly arched eyebrow, Abnormal hair pa...	ORPHA:495818
Leg, Absence Deformity Of, With Congenital Cataract	Progressive cataract, Optic nerve dysplasia, Developmental cataract	OMIM:246000
Smith-Mccort Dysplasia 1	Barrel-shaped chest, Short metacarpal, Multicentric femoral head ossification, Iliac crest serrat...	OMIM:607326
Laurin-Sandrow Syndrome	Syndactyly, Absent radius, Patellar aplasia, Short foot, Hand polydactyly, Triphalangeal thumb, B...	OMIM:135750
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome	Hyperextensibility of the finger joints, Frontal balding, Metatarsus adductus, Early balding, Sho...	ORPHA:3041
Thanatophoric Dysplasia, Type I	Bowing of the long bones, Small abnormally formed scapulae, Thoracic hypoplasia, Hypoplastic ilia...	OMIM:187600
Ulna And Fibula, Absence Of, With Severe Limb Deficiency	Aplasia/hypoplasia of the extremities, Femoral bowing, Pectus carinatum, Foot oligodactyly, Aplas...	OMIM:276820
Aniridia And Absent Patella	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	OMIM:106220
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Glaucoma, Aortic valve stenosis, Retinal degeneration	OMIM:607016
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Micromelia, Bowing of the legs, Beaded ribs, Abnormal han...	OMIM:200600
Microphthalmia, Syndromic 16	Microphthalmia, Anophthalmia, Sclerocornea	OMIM:611038
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities	Hypoplasia of the ulna, Short humerus, Hypoplastic scapulae, Rhizomelia, Micrognathia, Flared met...	OMIM:602471
Lymphedema-Distichiasis Syndrome	Conjunctivitis, Recurrent corneal erosions, Cellulitis, Microphthalmia, Arrhythmia, Corneal ulcer...	OMIM:153400
Microphthalmia, Isolated, With Corectopia	Microphthalmia, Ectopia pupillae	OMIM:156900
Multiple Pterygium Syndrome, Escobar Variant	Micrognathia, Talipes calcaneovalgus, Knee flexion contracture, Intercrural pterygium, Camptodact...	OMIM:265000
Palmoplantar Carcinoma, Multiple Self-Healing	Corneal neovascularization, Limbal stem cell deficiency	OMIM:615225
Hypoalphalipoproteinemia, Primary, 2	Corneal arcus, Cataract	OMIM:618463
Fibrochondrogenesis	Hypoplastic scapulae, Camptodactyly of finger, Micromelia, Wide anterior fontanel, Abnormal rib m...	ORPHA:2021
Mucolipidosis Ii Alpha/Beta	Brittle hair, Micrognathia, Metaphyseal widening, Death in childhood, Sparse hair, Megalocornea, ...	OMIM:252500
Ulnar-Mammary Syndrome	Deformed radius, Aplasia of the 3rd metacarpal, Aplasia of the 4th metacarpal, Aplasia of the 4th...	OMIM:181450
Autoinflammation With Arthritis And Dyskeratosis	Corneal neovascularization, Keratoconjunctivitis sicca, Punctate keratitis, Uveitis	OMIM:617388
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Hematuria, Chorioretinal coloboma, Microphthalmia, Iris coloboma	OMIM:120433
Coach Syndrome 2	Cerebellar vermis hypoplasia, Hydrocephalus, Hypertension, Chorioretinal coloboma, Molar tooth si...	OMIM:619111
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked	Urethral stricture, Corneal scarring	OMIM:301220
Cockayne Syndrome Type 3	Flexion contracture, Microcornea, Lentiglobus, Retinal degeneration, Retinal atrophy, Renal hypop...	ORPHA:90324
2Q24 Microdeletion Syndrome	Toe syndactyly, Cataract, Camptodactyly of finger, Long fingers, Bullet-shaped distal phalanx of ...	ORPHA:1617
Bartsocas-Papas Syndrome 2	2-5 finger cutaneous syndactyly, Corneal opacity, Micrognathia, Wide anterior fontanel, Small han...	OMIM:619339
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Cataract, Micrognathia, Coxa valga, Wide anterior fontanel, Abnormality of the elbow, Flat acetab...	ORPHA:163649
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome	Finger syndactyly, Abnormal scapula morphology, Aplasia/hypoplasia of the humerus, Aplasia/Hypopl...	ORPHA:2141
Camptodactyly Syndrome, Guadalajara Type 2	Camptodactyly of finger, Short 3rd toe, Pectus excavatum, Hip dislocation, Patellar hypoplasia, S...	ORPHA:1326
Joubert Syndrome 9	Molar tooth sign on MRI, Encephalocele, Cataract, Astigmatism	OMIM:612285
Gillespie Syndrome	Cerebellar atrophy, Hypoplasia of the iris, Aniridia, Cerebellar hypoplasia	OMIM:206700
Baller-Gerold Syndrome	Limited elbow movement, Micrognathia, Patellar hypoplasia, Spina bifida occulta, Hypoplasia of th...	OMIM:218600
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Hypoplastic scapulae, Short femur, Rhizomelia, Dumbbell-shaped long bone, Micromelia, Micrognathi...	ORPHA:440354
Alport Syndrome	Renal insufficiency, Proteinuria, Posterior subcapsular cataract, Abnormal corneal endothelium mo...	ORPHA:63
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Hypoplastic pubic ramus, Proximal placement of thumb, Micrognathia, Short metatarsal, Patellar hy...	OMIM:609945
Ramos-Arroyo Syndrome	Aganglionic megacolon, Keratitis, Absent retinal pigment epithelium, Chorioretinal atrophy, Chori...	ORPHA:1051
Duane-Radial Ray Syndrome	Optic disc hypoplasia, Preaxial polydactyly, Shoulder dislocation, Triphalangeal thumb, Vesicoure...	OMIM:607323
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Retinal detachment, Cataract, Corneal opacity, Chorioretinal dysplasia, Chorioretinal lacunae, My...	OMIM:152950
Amyotrophic Lateral Sclerosis 23	Degeneration of anterior horn cells, Amyotrophic lateral sclerosis	OMIM:617839
Aniridia-Absent Patella Syndrome	Aniridia, Cataract, Aplasia/Hypoplasia of the patella	ORPHA:1069
Roberts-Sc Phocomelia Syndrome	Micrognathia, Tetraphocomelia, Knee flexion contracture, Phocomelia, Sparse hair, Wrist flexion c...	OMIM:268300
Hec Syndrome	Abnormal retinal vascular morphology, Abnormal pupil morphology, Developmental cataract, Cardiomy...	ORPHA:2119
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Corneal opacity, Cerebral hemorrhage, Retinal arteriolar tortuosity, Polycoria, Retinal hemorrhag...	OMIM:175780
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome	Aniridia, Developmental glaucoma, Corneal opacity, Unilateral renal agenesis	ORPHA:1064
Granular Corneal Dystrophy Type Ii	Subepithelial corneal opacities, Central opacification of the cornea, Recurrent corneal erosions,...	ORPHA:98963
Goldberg-Shprintzen Syndrome	Aortic regurgitation, Aganglionic megacolon, Corneal erosion, Vesicoureteral reflux, Megalocornea...	OMIM:609460
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism	Portal hypertension, Ocular hypertension, Hiatus hernia, Developmental glaucoma, Renal cyst, Buph...	OMIM:610199
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, ...	OMIM:615771
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Corneal opacity	ORPHA:2370
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, Iris coloboma, Chorioretinal coloboma	OMIM:601706
Rothmund-Thomson Syndrome Type 1	Short metacarpal, Plantar hyperkeratosis, Alopecia totalis, Metaphyseal sclerosis, Patellar aplas...	ORPHA:221008
Split-Hand/Foot Malformation With Long Bone Deficiency 1	Short hallux, Aplasia of the 3rd finger, Patellar aplasia, Split hand, Hand monodactyly, Split fo...	OMIM:119100
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Sparse scalp hair, Micrognathia, Hypoplastic ilia,...	ORPHA:85201
Edict Syndrome	Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract	OMIM:614303
Microphthalmia, Syndromic 13	Microcornea, Microphthalmia, Iris coloboma, Chorioretinal coloboma	OMIM:300915
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome	Brachydactyly, Aplasia/Hypoplasia of the fibula, Short foot, Aplasia/Hypoplasia of the ulna, Shor...	ORPHA:52056
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Buphthalmos, Nephrocalcinosis, Glaucoma, Joint contracture	OMIM:618005
Mucolipidosis Type Iii	Inguinal hernia, Corneal opacity	ORPHA:577
Campomelic Dysplasia	Thoracic scoliosis, Anterior tibial bowing, Micrognathia, Delayed epiphyseal ossification, Patell...	OMIM:114290
Thrombocytopenia-Absent Radius Syndrome	Finger syndactyly, Tibial torsion, Micrognathia, Absent radius, Aplasia/hypoplasia of the humerus...	ORPHA:3320
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome	Aplasia/Hypoplasia of the thumb, Patellar aplasia, Abnormal fibula morphology, Aplasia/Hypoplasia...	ORPHA:988
Meier-Gorlin Syndrome 3	Microretrognathia, Absent sternal ossification, Hypospadias, Sparse axillary hair, Micrognathia, ...	OMIM:613803
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Bowing of the legs, Coxa vara, Narrow greater sciatic notch, Short phalanx of finger, Short metac...	ORPHA:85167
Temtamy Preaxial Brachydactyly Syndrome	Abnormal lens morphology, Abnormal optic disc morphology, Optic atrophy, Abnormally large globe	ORPHA:363417
Mietens Syndrome	Hypoplasia of the ulna, Cataract, Corneal opacity, Talipes, Sclerocornea, Coxa valga, Metatarsus ...	ORPHA:2557
Rothmund-Thomson Syndrome Type 2	Joint dislocation, Short metacarpal, Plantar hyperkeratosis, Aplasia/hypoplasia involving bones o...	ORPHA:221016
Corneal Dystrophy, Meesmann, 1	Punctate opacification of the cornea, Corneal dystrophy	OMIM:122100
Penoscrotal Transposition	Hypospadias, Micrognathia, Abnormality of the urethra, Penoscrotal transposition, Patellar aplasi...	ORPHA:2842
Bartsocas-Papas Syndrome 1	Micrognathia, Ectopic kidney, Hypoplastic iliac wing, Micropenis, Pterygium, Short phalanx of fin...	OMIM:263650
Congenital Microcoria	Ocular hypertension, Developmental cataract, Corneal stromal edema, Iris transillumination defect...	ORPHA:566
Hao-Fountain Syndrome	Hallux valgus, Aggressive behavior, Large fontanelles, Clinodactyly of the 5th finger, Micropenis...	OMIM:616863
Kuskokwim Syndrome	Abnormal clavicle morphology, Aplasia/Hypoplasia of the radius, Talipes, Aplasia/Hypoplasia of th...	ORPHA:1149
Ulnar Agenesis And Endocardial Fibroelastosis	Neonatal death, Hand oligodactyly, Aplasia of the ulna	OMIM:276822
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	2-5 finger syndactyly, Congenital hip dislocation, Single transverse palmar crease, Micrognathia,...	OMIM:308050
Sjogren-Larsson Syndrome	Macular crystals, Retinal pigment epithelial atrophy, Retinal thinning, Opacification of the corn...	OMIM:270200
Hirschsprung Disease-Ganglioneuroblastoma Syndrome	Prolonged QT interval, Abnormal pupil morphology, Aganglionic megacolon, Arrhythmia	ORPHA:2151
Cataract 11, Multiple Types	Microphthalmia, Cataract, Developmental cataract	OMIM:610623
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Retinal atrophy, Optic atrophy, Buphthalmos, Glaucoma, Hypoplasia of the retina, Retina...	OMIM:253280
Short Syndrome	Posterior embryotoxon, Inguinal hernia, Corneal opacity, Abnormal dental enamel morphology, Lipod...	ORPHA:3163
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly	Aplasia of the ulna, Split hand, Bifid femur, Hand monodactyly, Absent tibia, Foot monodactyly	OMIM:228250
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Abnormal clavicle morphology, Bowing of the long bones, Cataract, Rhizomelia, Proximal placement ...	ORPHA:93267
Melnick-Needles Syndrome	Micrognathia, Tibial bowing, Coarse hair, Narrow chest, Frontal hirsutism, Ureteral stenosis, Con...	OMIM:309350
Sjögren-Larsson Syndrome	Abnormality of retinal pigmentation, Abnormal dental enamel morphology, Corneal erosion, Macular ...	ORPHA:816
Congenital Rubella Syndrome	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, G...	ORPHA:290
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia	Amyotrophic lateral sclerosis	OMIM:205200
Microphthalmia, Isolated, With Coloboma 9	Retinal detachment, Macular coloboma, Sclerocornea, Microcornea, Microphthalmia, Ocular anterior ...	OMIM:615145
Acro-Renal-Mandibular Syndrome	Abnormal clavicle morphology, Finger syndactyly, Hypoplasia of the ulna, Hypoplastic scapulae, Mi...	ORPHA:958
Cat-Eye Syndrome	Abnormal rib morphology, Hydronephrosis, Hip dysplasia, Chorioretinal coloboma, Microphthalmia, I...	ORPHA:195
Osteoporosis-Pseudoglioma Syndrome	Retinal detachment, Corneal opacity, Abnormal vitreous humor morphology, Angle closure glaucoma, ...	ORPHA:2788
Irvan Syndrome	Retinal detachment, Vitreous floaters, Ocular hypertension, Optic atrophy, Macular edema, Glaucom...	ORPHA:209943
Woolly Hair Nevus	Curly hair, Patchy hypopigmentation of hair, Congenital posterior occipital alopecia, Fine hair, ...	ORPHA:79414
Sturge-Weber Syndrome	Buphthalmos, Choroidal hemangioma	OMIM:185300
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Femoral bowing, Narrow chest, Vesicoureteral reflux, Micropenis, Abnormality of the wrist, Elbow ...	ORPHA:95699
Scholte Syndrome	Acromicria, Small hand, Patellar hypoplasia, Short foot, Micropenis	OMIM:300977
Microphthalmia With Brain And Digit Anomalies	Cataract, Anophthalmia, Retinal dystrophy, Sclerocornea, Microcornea, Chorioretinal coloboma, Mic...	ORPHA:139471
Mucoepithelial Dysplasia, Hereditary	Cataract, Keratoconjunctivitis, Hematuria, Melena, Opacification of the corneal stroma, Corneal n...	OMIM:158310
Amyotrophic Lateral Sclerosis 19	Amyotrophic lateral sclerosis	OMIM:615515
Cleidocranial Dysplasia 1	Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Short middle phalanx o...	OMIM:119600
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Corneal opacity, Corneal dystrophy, Hypospadias, Optic nerve hypoplasia, Renal cyst, Buphthalmos,...	ORPHA:495875
Cofs Syndrome	Death in infancy, Prominent metopic ridge, Cataract, Camptodactyly of finger, Talipes, Micrognath...	ORPHA:1466
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Retinal dystrophy, Remnants of the hyaloid vascular system, Microcornea, Posterior lenticonus, Ch...	ORPHA:231736
Oculopalatocerebral Syndrome	Microphthalmia, Remnants of the hyaloid vascular system, Leukocoria	OMIM:257910
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Wormian bones, Shortening of all metacarpals, Wide anterior fontanel, Shortening of all phalanges...	OMIM:601356
Microphthalmia, Isolated 5	Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Retinal pigment epithelial ...	OMIM:611040
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies	Amyotrophic lateral sclerosis	OMIM:205250
Isolated Ectopia Lentis	Hypertension, Ectopia pupillae, Cataract, Ectopia lentis	ORPHA:1885
Sialidosis Type 2	Inguinal hernia, Corneal opacity, Flexion contracture, Umbilical hernia, Nephropathy, Abnormal ma...	ORPHA:87876
Cockayne Syndrome	Urinary incontinence, Congenital contracture, Lentiglobus, Retinal arteriolar constriction, Retin...	ORPHA:191
Gombo Syndrome	Microphthalmia, Clinodactyly, Radial deviation of finger, Brachydactyly	OMIM:233270
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Tachycardia, Flexion contracture, Retinal hemorrhage, Corneal scarring, Hypertension, Bradycardia	OMIM:614653
Meier-Gorlin Syndrome 5	Prominent metopic ridge, Micrognathia, Elbow dislocation, Irregular femoral epiphysis, Patellar a...	OMIM:613805
Glaucoma 1, Open Angle, F	Open angle glaucoma, Increased cup-to-disc ratio, Ocular hypertension	OMIM:603383
Chromosome 16Q12 Duplication Syndrome	Anisocoria, Retinal pigment epithelial mottling, Cataract, Temporal optic disc pallor	OMIM:619649
Temtamy Syndrome	Pes planus, Brachydactyly, Micrognathia, Short toe, Chorioretinal coloboma, Clinodactyly of the 5...	ORPHA:1777
Hurler-Scheie Syndrome	Abnormal nerve conduction velocity, Cardiomyopathy, Corneal opacity, Hernia	ORPHA:93476
Van Bogaert-Hozay Syndrome	Micrognathia, Abnormal hair morphology, Osteolytic defects of the phalanges of the hand, Astigmat...	OMIM:277150
Rapadilino Syndrome	Joint dislocation, Sparse scalp hair, Sparse eyelashes, Aplasia/Hypoplasia of the patella, Sparse...	OMIM:266280
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Hydrocephalus, Frontal encephalocele, Optic atrophy, Cerebellar hypoplasia...	ORPHA:1528
Harel-Yoon Syndrome	Peripheral axonal neuropathy, Corneal opacity, Optic atrophy, Developmental cataract, Hypertrophi...	OMIM:617183
Porphyria Cutanea Tarda	Scarring, Stage 5 chronic kidney disease, Corneal scarring, Porphyrinuria, Increased urinary porp...	ORPHA:101330
Ritscher-Schinzel Syndrome 3	Hypoplasia of the ulna, Death in infancy, Highly arched eyebrow, Micrognathia, Wide anterior font...	OMIM:619135
Duane Retraction Syndrome	Aplasia/Hypoplasia of the thumb, Central heterochromia, Optic disc hypoplasia, Micrognathia, Ecto...	ORPHA:233
Fish-Eye Disease	Opacification of the corneal stroma	OMIM:136120
Cutis Marmorata Telangiectatica Congenita	Retinal detachment, Leukocoria, Telangiectasia, Glaucoma, Hypertension	OMIM:219250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10	Neural tube defect, Cerebellar dysplasia	OMIM:615041
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Thoracic dysplasia, Narrow chest, Short palm, Neonatal death, Short toe, Shor...	OMIM:269860
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies	Pectus excavatum, Hypoplastic distal segments of scapulae, Abnormal rib morphology, Micrognathia	OMIM:602196
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Down-sloping shoulders, Micrognathia, Pectus excavatum, Cubitus valgus, Knee flexion co...	OMIM:619694
Macular Corneal Dystrophy	Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Recurrent corneal ...	ORPHA:98969
Gms Syndrome	Rieger anomaly, Tricuspid regurgitation	ORPHA:2090
Microcephaly-Microcornea Syndrome, Seemanova Type	Microcornea, Microphthalmia, Cataract	ORPHA:2528
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105500
Erythrokeratodermia Variabilis	Glaucoma, Cataract, Corneal opacity	ORPHA:317
Leprosy	Epistaxis, Abnormality of the seventh cranial nerve, Uveitis, Glaucoma, Abnormal autonomic nervou...	ORPHA:548
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Scarring alopecia of scalp, Optic atrophy, Glaucoma, Ectopia pupillae, Astigmatism, Mic...	OMIM:618727
Shigellosis	Hemolytic-uremic syndrome, Myocarditis, Urethritis, Uveitis, Hypovolemic shock, Conjunctivitis, C...	ORPHA:810
Aniridia 2	Cataract, Optic atrophy, Lens subluxation, Aniridia, Iris coloboma	OMIM:617141
Wagr Syndrome	Aplasia/Hypoplasia of the iris, Cataract	ORPHA:893
Oculodentodigital Dysplasia, Autosomal Recessive	Wide cranial sutures, Cataract, Broad long bones, Sparse eyelashes, Fifth finger distal phalanx c...	OMIM:257850
Ophthalmomandibulomelic Dysplasia	Glaucoma, Megalocornea, Corneal opacity, Camptodactyly of finger	ORPHA:2741
Galloway-Mowat Syndrome 1	Cerebellar atrophy, Cataract, Optic atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem,...	OMIM:251300
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Long clavicles, Lateral clavicle hook, Absent rad...	OMIM:171480
Meier-Gorlin Syndrome 4	Genu recurvatum, Micrognathia, Lateral clavicle hook, Patellar aplasia, Slender long bone, Breast...	OMIM:613804
Chudley-Mccullough Syndrome	Dysplastic corpus callosum, Hydrocephalus, Partial agenesis of the corpus callosum, Cerebellar hy...	OMIM:604213
Frank-Ter Haar Syndrome	Abnormally large globe, Developmental glaucoma, Buphthalmos, Camptodactyly, Megalocornea	OMIM:249420
Atelosteogenesis, Type I	Micrognathia, Short metatarsal, Tibial bowing, Knee dislocation, Narrow chest, Neonatal death, Ve...	OMIM:108720
Oculocerebrorenal Syndrome Of Lowe	Chorioretinal dysplasia, Abnormal pupil morphology, Oligosacchariduria, Nephrocalcinosis, Aminoac...	ORPHA:534
Septopreoptic Holoprosencephaly	Hypoplasia of the pons, Rhombencephalosynapsis, Abnormal midbrain morphology, Ethmoidal encephalo...	ORPHA:280195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6	Flexion contracture, Optic atrophy, Developmental cataract, Pigmentary retinopathy, Posterior syn...	OMIM:613154
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Death in infancy, Optic disc pallor, Cataract, Ectopic kidney, Neonatal death, Microphthalmia, Cy...	OMIM:613730
Meckel Syndrome, Type 4	Encephalocele, Agenesis of cerebellar vermis, Hydrocephalus, Meningocele, Anencephaly, Molar toot...	OMIM:611134
Unilateral Ocular Duplication	Microcornea, Abnormal pupil morphology, Iris coloboma	ORPHA:3374
Juvenile Primary Lateral Sclerosis	Abnormal upper motor neuron morphology	ORPHA:247604
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Retinal dystrophy, Peripheral retinal atrophy, Absent foveal reflex, Microcornea, Iris coloboma	OMIM:615147
Meckel Syndrome 13	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar hypoplasia	OMIM:617562
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)	Decreased number of peripheral myelinated nerve fibers, Recurrent corneal erosions, Corneal ulcer...	OMIM:256810
Oculocutaneous Albinism Type 6	Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma...	ORPHA:370097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Pes planus, Cataract, Rhizomelia, Anophthalmia, Sclerocornea, Hypospadias, 2-3 toe syndactyly, Mi...	OMIM:615877
Acrorenal-Mandibular Syndrome	Hypoplasia of the ulna, Toe syndactyly, Hypoplastic scapulae, Absent nipple, Micrognathia, Missin...	OMIM:200980
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Single transverse palmar crease, Micrognathia, Tibial bowing, Narrow chest, Hypoplastic iliac win...	ORPHA:96334
Brittle Cornea Syndrome 2	Keratoconus, Inguinal hernia, Flat cornea, Sclerocornea, Keratoglobus, Umbilical hernia, Decrease...	OMIM:614170
Familial Dysautonomia	Renal insufficiency, Orthostatic hypotension, Corneal opacity, Tachycardia, Abnormal pupil morpho...	ORPHA:1764
Multicentric Carpotarsal Osteolysis Syndrome	Renal insufficiency, Corneal opacity, Proteinuria, Congenital diaphragmatic hernia, Stage 5 chron...	OMIM:166300
Coats Disease	Exudative retinal detachment, Leukocoria, Retinal telangiectasia	OMIM:300216
Cerebrooculofacioskeletal Syndrome 2	Cataract, Camptodactyly of finger, Rocker bottom foot, Micrognathia, Developmental cataract, Deat...	OMIM:610756
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Micrognathia, Absent radius, Ocular albi...	ORPHA:1352
Acrocapitofemoral Dysplasia	Micromelia, Short proximal phalanx of thumb, Coxa vara, Pectus carinatum, Narrow chest, Short pal...	OMIM:607778
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Microcornea, Cataract, Aniridia	OMIM:106230
Congenital Radioulnar Synostosis	Syndactyly, Abnormal morphology of the radius, Congenital hip dislocation, Abnormal morphology of...	ORPHA:3269
Joubert Syndrome With Renal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Molar tooth si...	ORPHA:220497
Osteoglophonic Dysplasia	Short metatarsal, Short palm, Short phalanx of finger, Pseudoarthrosis, Broad metacarpals, Short ...	OMIM:166250
Walker-Warburg Syndrome	Retinal detachment, Hypoplasia of penis, Cataract, Corneal opacity, Chorioretinal dysplasia, Anop...	ORPHA:899
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome	Cone/cone-rod dystrophy, Optic disc pallor, Limb joint contracture, Achilles tendon contracture, ...	ORPHA:404454
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency	Hypoplastic scapulae, Bowed humerus, Absent thumb, Elbow flexion contracture, Bilateral talipes e...	OMIM:618022
Microcephaly-Micromelia Syndrome	Micromelia, Micrognathia, Absent thumb, Absent radius, Missing ribs, Humeroradial synostosis, Cra...	OMIM:251230
Temtamy Syndrome	Pes planus, Highly arched eyebrow, Ectopia lentis, Micrognathia, Lens luxation, Self-mutilation, ...	OMIM:218340
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Optic disc pallor, Cataract, Chorioretinal dysplasia, Cerebellar hypoplasia, Microphthalmia	OMIM:251270
Loose Anagen Syndrome	Iris coloboma	ORPHA:168
Gollop-Wolfgang Complex	Hand monodactyly, Bifid femur, Aplasia/Hypoplasia of the ulna, Ectrodactyly, Aplasia/Hypoplasia o...	ORPHA:1986
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Peripheral axonal neuropathy, Cataract, Corneal opacity, Optic nerve hypoplasia, Optic atrophy, 3...	ORPHA:496790
Waardenburg Syndrome, Type 2A	Hypoplastic iris stroma, Heterochromia iridis	OMIM:193510
Isolated Aniridia	Aniridia, Cataract, Aplasia/Hypoplasia of the macula, Peters anomaly	ORPHA:250923
Cone-Rod Dystrophy 16	Cone/cone-rod dystrophy, Optic disc pallor, Bone spicule pigmentation of the retina, Cataract, Ma...	OMIM:614500
Brachydactyly, Type B1	Type B brachydactyly, Syndactyly, Vertebral fusion, Hypoplastic sacrum, Aplasia/Hypoplasia of the...	OMIM:113000
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia, Chorioretinal dysplasia	OMIM:616335
Campomelic Dysplasia	11 pairs of ribs, Bowing of the long bones, Small abnormally formed scapulae, Micrognathia, Hip d...	ORPHA:140
Patella Aplasia-Hypoplasia	Patellar aplasia, Patellar hypoplasia	OMIM:168860
Alport Syndrome 2, Autosomal Recessive	Renal insufficiency, Cataract, Proteinuria, Corneal erosion, Stage 5 chronic kidney disease, Hema...	OMIM:203780
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration	OMIM:618479
Joubert Syndrome With Oculorenal Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Chorioretinal ...	ORPHA:2318
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Macular atrophy, Glaucoma, Shallow anterior chamber, Cystoid macular degeneration, Microphthalmia...	OMIM:267760
Warburg Micro Syndrome 1	Cerebellar vermis hypoplasia, Optic atrophy, Developmental cataract, Microcornea, Cerebellar hypo...	OMIM:600118
Amyotrophic Lateral Sclerosis 9	Amyotrophic lateral sclerosis	OMIM:611895
Ophthalmoplegia, Familial Static	Anisocoria	OMIM:165000
Pierpont Syndrome	Short toe, High anterior hairline, Broad palm, Microcornea, Short foot, Deep plantar creases, Dee...	OMIM:602342
Aniridia-Intellectual Disability Syndrome	Aniridia, Cataract, Optic nerve hypoplasia, Ectopia lentis	ORPHA:1068
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia, Hydrocephalus, Cerebellar hypoplasia	OMIM:614830
Rutherfurd Syndrome	Corneal dystrophy, Opacification of the corneal stroma	OMIM:180900
Fryns-Smeets-Thiry Syndrome	Patellar aplasia, Arachnodactyly, Hip dislocation, Micrognathia	ORPHA:2058
Congenital Ichthyosiform Erythroderma	Keratitis, Corneal erosion	ORPHA:79394
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly	Mirror image foot polydactyly, Preaxial foot polydactyly, Patellar hypoplasia, Popliteal pterygiu...	OMIM:119800
Multiple Synostoses Syndrome 1	Hypoplastic spinal processes, Single transverse palmar crease, Symphalangism affecting the phalan...	OMIM:186500
Corpus Callosum, Agenesis Of, With Abnormal Genitalia	Limb joint contracture, Optic atrophy, Hypospadias, Abnormally large globe	OMIM:300004
Porphyria, Congenital Erythropoietic	Red urine, Corneal scarring, Atypical scarring of skin, Conjunctivitis, Joint contracture of the ...	OMIM:263700
Rodrigues Blindness	Microcornea, Microphthalmia, Sclerocornea	OMIM:268320
Congenital Varicella Syndrome	Microphthalmia, Cataract, Micromelia	ORPHA:291
Fish-Eye Disease	Angina pectoris, Corneal opacity	ORPHA:79292
Lowe Oculocerebrorenal Syndrome	Renal insufficiency, Hyperphosphaturia, Camptodactyly of finger, Bicarbonaturia, Proximal renal t...	OMIM:309000
Xeroderma Pigmentosum, Complementation Group G	Microphthalmia, Cataract	OMIM:278780
Bietti Crystalline Dystrophy	Retinal pigment epithelial atrophy, Retinal thinning, Chorioretinal degeneration, Retinal pigment...	ORPHA:41751
Kid Syndrome	Keratitis, Scarring alopecia of scalp, Corneal erosion, Knee flexion contracture, Keratoconjuncti...	ORPHA:477
Adams-Oliver Syndrome 2	Hydrocephalus, Optic atrophy, Developmental cataract, Retrocerebellar cyst, Lateral ventricle dil...	OMIM:614219
Coloboma-Obesity-Hypogenitalism-Mental Retardation Syndrome	Microphthalmia, Hydrocephalus, Cataract	OMIM:601794
Syndromic Recessive X-Linked Ichthyosis	Renal insufficiency, Corneal opacity, Unilateral renal agenesis	ORPHA:281090
Weyers Ulnar Ray/Oligodactyly Syndrome	Proximal placement of thumb, Absent thumb, Micrognathia, Hypoplasia of the radius, Hand oligodact...	OMIM:602418
Trisomy 13	Cataract, Anophthalmia, Optic atrophy, Aplasia/Hypoplasia of the iris, Chiari malformation, Micro...	ORPHA:3378
Ear-Patella-Short Stature Syndrome	Hypoplasia of penis, Hypospadias, Camptodactyly of finger, Aplastic clavicle, Micrognathia, Elbow...	ORPHA:2554
Metaphyseal Dysplasia, Braun-Tinschert Type	Broad tibial metaphyses, Humerus varus, Tibial bowing, Exostoses of the ulna, Sclerosis of middle...	ORPHA:85188
Acromesomelic Dysplasia 2C	Hypoplasia of the ulna, Shortening of all middle phalanges of the fingers, Radial bowing, Single ...	OMIM:201250
Li-Campeau Syndrome	Single transverse palmar crease, Patellar hypoplasia, Micropenis, Thick eyebrow, Hypertrichosis	OMIM:619189
Megalocornea-Intellectual Disability Syndrome	Iridodonesis, Hypoplasia of the iris, Astigmatism, Megalocornea, Abnormal anterior chamber morpho...	ORPHA:2479
Brachyolmia Type 1, Toledo Type	Increased urinary disaccharide excretion, Opacification of the corneal stroma	OMIM:271630
Wagro Syndrome	Cataract, Proteinuria, Corneal opacity, Ocular hypertension, Hypertension, Aniridia	OMIM:612469
Familial Apolipoprotein Gene Cluster Deletion Syndrome	Corneal arcus	OMIM:620058
Congenital Disorder Of Deglycosylation 1	Decreased sensory nerve conduction velocity, Corneal opacity, Heparan sulfate excretion in urine,...	OMIM:615273
Brachydactyly Type A1	Hypoplasia of the ulna, Short hallux, Short thumb, Short foot, Cone-shaped epiphysis, Short middl...	ORPHA:93388
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Alagille Syndrome	Keratoconus, Hypoplasia of the ulna, Corneal dystrophy, Micrognathia, Abnormal pupil morphology, ...	ORPHA:52
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Corneal opacity, Death in childhood	OMIM:618961
Nivelon-Nivelon-Mabille Syndrome	Hypoplasia of the iris, Optic disc coloboma, Cerebellar vermis hypoplasia	OMIM:600092
Müllerian Duct Anomalies-Limb Anomalies Syndrome	Short humerus, Hypoplasia of penis, Micromelia, Postaxial hand polydactyly, Split hand, Abnormali...	ORPHA:2491
Hydrolethalus Syndrome 2	Molar tooth sign on MRI, Agenesis of corpus callosum, Hydrocephalus, Anencephaly	OMIM:614120
Abetalipoproteinemia	Abnormality of retinal pigmentation, Congestive heart failure, Keratoconjunctivitis sicca, Cornea...	ORPHA:14
Amoebiasis Due To Free-Living Amoebae	Facial palsy, Arrhythmia, Corneal perforation, Conjunctival hyperemia, Corneal ulceration	ORPHA:68
Hepatoerythropoietic Porphyria	Scarring, Scarring alopecia of scalp, Red urine, Red-brown urine, Keratoconjunctivitis, Corneal u...	ORPHA:95159
Immunodeficiency 10	Hypoplasia of the iris	OMIM:612783
Donnai-Barrow Syndrome	Cataract, Partial agenesis of the corpus callosum, Hypoplasia of the iris, Umbilical hernia, Agen...	OMIM:222448
Joubert Syndrome 14	Encephalocele, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Hydrocephalus, Mening...	OMIM:614424
Intellectual Developmental Disorder, Autosomal Recessive 71	Micropenis, Unilateral renal agenesis, Abnormally large globe	OMIM:618504
Joubert Syndrome 22	Molar tooth sign on MRI, Microphthalmia, Agenesis of cerebellar vermis	OMIM:615665
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia	Patellar hypoplasia, Micrognathia	OMIM:251240
Joubert Syndrome 36	Molar tooth sign on MRI	OMIM:618763
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Joubert Syndrome With Ocular Defect	Encephalocele, Cerebellar vermis hypoplasia, Aganglionic megacolon, Hydrocephalus, Molar tooth si...	ORPHA:220493
Familial Exudative Vitreoretinopathy	Macular exudate, Macular telangiectasia, Peripheral retinal avascularization, Cataract, Rhegmatog...	ORPHA:891
Recombinant 8 Syndrome	Camptodactyly of finger, Micrognathia, Pectus excavatum, Abnormal hair morphology, Patellar aplas...	ORPHA:96167
Multiple Epiphyseal Dysplasia, Al-Gazali Type	Molar tooth sign on MRI, Agenesis of corpus callosum	ORPHA:166024
Pierpont Syndrome	Pes planus, Short toe, Microcornea, Abnormality of the plantar skin of foot, Deep palmar crease, ...	ORPHA:487825
Joubert Syndrome 10	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	OMIM:300804
Crane-Heise Syndrome	Finger syndactyly, Hypoplasia of penis, Toe syndactyly, Hypoplastic scapulae, Aplastic clavicle, ...	ORPHA:1512
Deafness, Autosomal Recessive 108	Iris coloboma	OMIM:617654
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Cataract, Hydrocephalus, Dilated cardiomyopathy, Optic atrophy, Hypoplasia of the ...	OMIM:253800
Acro-Renal-Ocular Syndrome	Optic disc hypoplasia, Microcornea, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral r...	ORPHA:959
Metaphyseal Anadysplasia	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the lower limb, Aplasia/Hyp...	ORPHA:1040
Fibular Hemimelia	Anophthalmia, Bowing of the legs, Structural foot deformity, Tibial bowing, Increased laxity of a...	ORPHA:93323
Microphthalmia-Brain Atrophy Syndrome	Bilateral microphthalmos, Lateral ventricle dilatation, Abnormal pons morphology, Atrophy/Degener...	ORPHA:77299
Meier-Gorlin Syndrome 2	Micrognathia, Patellar aplasia, Slender long bone, Camptodactyly, Breast hypoplasia	OMIM:613800
Glaucoma 1, Primary Open Angle, C	Glaucoma, Ocular hypertension	OMIM:601682
Ulna Hypoplasia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Broad hallux phalanx, Talipes, Micromelia, Metatarsus adductus, Elbow dis...	ORPHA:2249
Lacrimoauriculodentodigital Syndrome	Increased corneal thickness, Abnormal dental enamel morphology, Renal hypoplasia, Keratoconjuncti...	ORPHA:2363
Peroxisome Biogenesis Disorder 7A (Zellweger)	Death in infancy, Large posterior fontanelle, Cataract, Wide anterior fontanel, Epiphyseal stippl...	OMIM:614872
Tubulointerstitial Nephritis And Uveitis Syndrome	Choroidal neovascularization, Sterile pyuria, Tubulointerstitial nephritis, Aminoaciduria, Renal ...	ORPHA:91500
Autoinflammation, Antibody Deficiency, And Immune Dysregulation	Corneal erosion, Cataract, Cellulitis	OMIM:614878
Leri-Weill Dyschondrosteosis	Hypoplasia of the ulna, Radial bowing, Abnormal femoral neck morphology, Dorsal subluxation of ul...	OMIM:127300
Lcat Deficiency	Renal insufficiency, Corneal opacity, Proteinuria, Stage 5 chronic kidney disease, Acute kidney i...	ORPHA:650
Oculo-Palato-Cerebral Syndrome	Retinal detachment, Cataract, Remnants of the hyaloid vascular system, Leukocoria, Glaucoma, Micr...	ORPHA:2714
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Cataract, Optic nerve hypoplasia, Hydrocephalus, Partial agenesis of the corpus ca...	OMIM:614643
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:616570
Joubert Syndrome 25	Molar tooth sign on MRI, Cerebellar hypoplasia	OMIM:616781
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Cataract, Toe syndactyly, Micromelia, Elbow dislocatio...	ORPHA:3258
Central Retinal Vein Occlusion	Papilledema, Epiretinal membrane, Abnormal anterior eye segment morphology, Intraretinal hemorrha...	ORPHA:411527
Scheie Syndrome	Aortic regurgitation, Corneal opacity, Glaucoma, Mucopolysacchariduria, Abnormal nerve conduction...	ORPHA:93474
Stromme Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Bilateral renal hypoplasia, Microcornea, Hydronep...	OMIM:243605
Orofaciodigital Syndrome Xv	Molar tooth sign on MRI, Cerebellar vermis hypoplasia, Agenesis of corpus callosum	OMIM:617127
Myopia 23, Autosomal Recessive	Increased axial length of the globe	OMIM:615431
Aniridia 3	Aniridia, Cataract	OMIM:617142
Proteus-Like Syndrome	Retinal detachment, Cataract, Abnormal pupil morphology, Limbal dermoid, Heterochromia iridis, Su...	ORPHA:2969
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Frontal encephalocele, Cerebellar hypoplasia, Microphthalmia, Agenesis of...	OMIM:218670
Axenfeld-Rieger Syndrome, Type 1	Rieger anomaly, Hypospadias, Polycoria, Microcornea, Hypoplasia of the iris, Ectopia pupillae, Gl...	OMIM:180500
Xp22.3 Microdeletion Syndrome	Opacification of the corneal stroma	ORPHA:1643
Curry-Jones Syndrome	Finger syndactyly, Toe syndactyly, Abnormality of thumb phalanx, Craniosynostosis, Preaxial hand ...	ORPHA:1553
Mucolipidosis Type Iv	Retinopathy, Abnormality of retinal pigmentation, Corneal opacity	ORPHA:578
Neuhauser Syndrome	Hypoplasia of the iris, Iridodonesis, Megalocornea	OMIM:249310
Prader-Willi Syndrome Due To Imprinting Mutation	Hypopigmentation of hair, Narrow palm, Small hand, Short foot, Abnormal ulnar metaphysis morpholo...	ORPHA:177910
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Camptodactyly of finger, Micrognathia, Microcornea, Long eyelashes, Microphthalmia	ORPHA:48431
Frontonasal Dysplasia 1	Cataract, Postaxial hand polydactyly, Hypoplastic frontal sinuses, Anterior basal encephalocele, ...	OMIM:136760
Myopia 27, Autosomal Dominant	Increased axial length of the globe	OMIM:618827
Schneckenbecken Dysplasia	Hypoplastic scapulae, Increased fibular diameter, Micromelia, Dumbbell-shaped long bone, Lateral ...	ORPHA:3144
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Zellweger Syndrome	Death in infancy, Multicystic kidney dysplasia, Cataract, Abnormal chorioretinal morphology, Corn...	ORPHA:912
Alpha-Mannosidosis, Adult Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Oligosacchariduria	ORPHA:309288
Joubert Syndrome 16	Molar tooth sign on MRI, Encephalocele, Dandy-Walker malformation	OMIM:614465
Microcephalic Primordial Dwarfism, Montreal Type	Abnormally large globe	OMIM:210700
Sialidosis Type 1	Urinary excretion of sialylated oligosaccharides, Cataract, Corneal opacity, Decreased nerve cond...	ORPHA:812
Warburg-Cinotti Syndrome	Retinal dystrophy, Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Limbal ste...	OMIM:618175
Nephronophthisis 11	Polyuria, Stage 5 chronic kidney disease, Anisocoria, Renal corticomedullary cysts, Nephronophthi...	OMIM:613550
Chromosome 3Q29 Duplication Syndrome	Abnormally large globe	OMIM:611936
Bangstad Syndrome	Abnormally large globe	OMIM:210740
Facial Spasm	Anisocoria	OMIM:134300
Heart-Hand Syndrome Type 2	Abnormal clavicle morphology, Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Micro...	ORPHA:1350
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma	OMIM:204850
Hyperlipoproteinemia, Type Ii, And Deafness	Corneal arcus	OMIM:144300
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Microsporidiosis	Keratitis, Myocarditis, Urethritis, Keratoconjunctivitis, Corneal ulceration, Nephritis	ORPHA:2552
Hereditary Sensory And Autonomic Neuropathy Type 2	Abnormality of the knee, Tapered finger, Foot acroosteolysis, Abnormal epiphysis morphology, Abno...	ORPHA:970
Acrofacial Dysostosis, Rodríguez Type	Microretrognathia, Finger syndactyly, Hand oligodactyly, Fibular hypoplasia, Abnormal pelvic gird...	ORPHA:1788
Osebold-Remondini Syndrome	Dysplastic distal radial epiphyses, Broad toe, Hypoplasia of the ulna, Decreased finger mobility,...	OMIM:112910
Multicentric Osteolysis, Nodulosis, And Arthropathy	Peripheral opacification of the cornea, Micrognathia, Metaphyseal widening, Metatarsal osteolysis...	OMIM:259600
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Corneal dystrophy, Sclerocornea, Microcornea, Keratoconjunctivitis sicca, Microphthalmia	ORPHA:1806
Adams-Oliver Syndrome 4	Short toe, Absent middle phalanx of the 3rd toe, Aplasia of the middle phalanx of the 4th toe, Um...	OMIM:615297
Spondyloperipheral Dysplasia	Short distal phalanx of the 4th finger, Short metatarsal, Pectus carinatum, Barrel-shaped chest, ...	OMIM:271700
Blepharoptosis-Myopia-Ectopia Lentis Syndrome	Glaucoma, Abnormality of retinal pigmentation, Iris coloboma, Ectopia lentis	ORPHA:1259
Oculofaciocardiodental Syndrome	Cataract, Highly arched eyebrow, Ectopia lentis, Cubitus valgus, Short thumb, 2-3 toe syndactyly,...	ORPHA:2712
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Anophthalmia, Sclerocornea, Hydrocephalus, Holoprosencephaly, Microphthalmia, Agenesis of corpus ...	ORPHA:77298
Yunis-Varon Syndrome	Aplasia of the distal phalanges of the hand, Single transverse palmar crease, Sclerocornea, Micro...	ORPHA:3472
Vitreoretinochoroidopathy	Retinal detachment, Retinal arteriolar occlusion, Pulverulent cataract, Developmental cataract, M...	OMIM:193220
Paternal Uniparental Disomy Of Chromosome 5	Abnormally large globe	ORPHA:96190
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Sandal gap, Impulsivity, Micrognathia, Aggressive behavior, Lens coloboma, 2-3 toe syndactyly, Re...	OMIM:618914
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts	Pectus excavatum, Pectus carinatum, Developmental cataract, Stillbirth, Wormian bones	OMIM:259410
Yunis-Varon Syndrome	Congenital hip dislocation, Single transverse palmar crease, Sclerocornea, Micrognathia, Short me...	OMIM:216340
Joubert Syndrome 18	Molar tooth sign on MRI, Occipital encephalocele, Agenesis of cerebellar vermis, Agenesis of corp...	OMIM:614815
Hereditary Sensory And Autonomic Neuropathy Type 4	Fasciitis, Chronic kidney disease, Corneal scarring, Atypical scarring of skin, Syncope, Abnormal...	ORPHA:642
Congenital Sialidosis Type 2	Hypoplasia of the fovea, Abnormal EKG, Inguinal hernia, Cataract, Corneal opacity, Cherry red spo...	ORPHA:93400
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 4	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616439
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 3	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:616437
Focal Dermal Hypoplasia	Corneal opacity, Telangiectasia of the skin, Spina bifida, Ectopia lentis, Hypoplasia of the iris...	ORPHA:2092
Joubert Syndrome 30	Molar tooth sign on MRI, Cerebellar atrophy, Superior cerebellar dysplasia, Dandy-Walker malforma...	OMIM:617622
Congenital Erythropoietic Porphyria	Scarring, Increased connective tissue, Scarring alopecia of scalp, Red-brown urine, Porphyrinuria...	ORPHA:79277
Hereditary Bullous Dystrophy, Macular Type	Cataract, Corneal opacity, Heart murmur	ORPHA:1867
Intestinal Botulism	Death in infancy, Mydriasis	ORPHA:178481
Joubert Syndrome 40	Molar tooth sign on MRI, Optic nerve hypoplasia	OMIM:619582
Oculocerebral Hypopigmentation Syndrome, Preus Type	Cataract, Hydrocephalus, Abnormal brainstem morphology, Ocular albinism, Aplasia/Hypoplasia of th...	ORPHA:2720
Joubert Syndrome 2	Encephalocele, Agenesis of cerebellar vermis, Brainstem dysplasia, Hydrocephalus, Optic disc colo...	OMIM:608091
Tibial Hemimelia	Aplasia of the 2nd metacarpal, Aplasia of the 4th metacarpal, Knee flexion contracture, Increased...	ORPHA:93322
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Short fourth metatarsal, Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly	ORPHA:464288
Multiple Sulfatase Deficiency	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Optic atrophy, Mucopolysaccharidu...	ORPHA:585
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Conjunctivitis, Corneal opacity	OMIM:602562
Lowry-Maclean Syndrome	Inguinal hernia, Corneal opacity, Hypospadias, Congenital diaphragmatic hernia, Developmental gla...	ORPHA:2409
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Knee flexion contracture, Mitral regurgitation, Abnormally large globe	OMIM:603387
Exudative Vitreoretinopathy 2, X-Linked	Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Peripheral vitreous ...	OMIM:305390
Dyschondrosteosis-Nephritis Syndrome	Hematuria, Nephropathy, Corneal opacity, Proteinuria	ORPHA:1765
Rere-Related Neurodevelopmental Syndrome	Hypospadias, Micrognathia, Dysphagia, Self-injurious behavior, Hip dysplasia, Astigmatism, Chorio...	ORPHA:494344
Knobloch Syndrome 1	Attenuation of retinal blood vessels, Retinal detachment, Optic disc pallor, Band keratopathy, Ph...	OMIM:267750
Joubert Syndrome 4	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, Th...	OMIM:609583
X-Linked Dominant Chondrodysplasia Punctata	Cataract, Sparse eyelashes, Abnormal hair pattern, Lower limb asymmetry, Sparse eyebrow, Scarring...	ORPHA:35173
Mandibuloacral Dysplasia	Loss of subcutaneous adipose tissue in limbs, Lipoatrophy, Increased subcutaneous truncal adipose...	ORPHA:2457
Congenital Insensitivity To Pain With Severe Intellectual Disability	Keratitis, Corneal erosion	ORPHA:453510
Martsolf Syndrome 1	Thoracic scoliosis, Micrognathia, Osteopathia striata, Low anterior hairline, Pectus carinatum, F...	OMIM:212720
Alacrima, Congenital, Autosomal Recessive	Punctate corneal epithelial erosions	OMIM:601549
Craniosynostosis-Mental Retardation-Clefting Syndrome	Craniosynostosis, Forearm undergrowth, Lower limb undergrowth, Chorioretinal coloboma	OMIM:218650
Axenfeld-Rieger Syndrome	Aplasia/Hypoplasia of the iris, Posterior embryotoxon, Abnormal anterior chamber morphology	ORPHA:782
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Nasopalpebral Lipoma-Coloboma Syndrome	Lipomas of eyelids, Cataract, Corneal opacity, Bilateral microphthalmos, Multiple lipomas, Microp...	ORPHA:2399
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Enuresis	ORPHA:289483
Diamond-Blackfan Anemia 11	Hypoplasia of the ulna, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Hypop...	OMIM:614900
Chromosome 16Q22 Deletion Syndrome	Prominent metopic ridge, Broad hallux, Hypospadias, Single transverse palmar crease, Micrognathia...	OMIM:614541
Charcot-Marie-Tooth Disease Type 1E	Hand muscle atrophy, Hyporeflexia of lower limbs, Peroneal muscle weakness, Equinovarus deformity...	ORPHA:90658
Saul-Wilson Syndrome	Enlarged epiphyses, Short metacarpal, Cataract, Pseudoepiphyses of the metacarpals, Micrognathia,...	OMIM:618150
Klippel-Feil Syndrome 3, Autosomal Dominant	Iris coloboma, Chorioretinal coloboma	OMIM:613702
Alpha-Mannosidosis	Inguinal hernia, Cataract, Corneal opacity	ORPHA:61
Trisomy 9P	Abnormal pupil morphology	ORPHA:236
Alport Syndrome 1, X-Linked	Renal insufficiency, Proteinuria, Corneal erosion, Lenticonus, Stage 5 chronic kidney disease, De...	OMIM:301050
Short Syndrome	Megalocornea, Astigmatism, Rieger anomaly, Cataract	OMIM:269880
Grant Syndrome	Joint dislocation, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Large fontane...	ORPHA:2097
Cerebrooculofacioskeletal Syndrome 1	Cataract, Rocker bottom foot, Micrognathia, Coxa valga, Elbow flexion contracture, Knee flexion c...	OMIM:214150
Cockayne Syndrome B	Cerebellar calcifications, Abnormal auditory evoked potentials, Decreased nerve conduction veloci...	OMIM:133540
Juvenile Sialidosis Type 2	Inguinal hernia, Cataract, Corneal opacity, Optic atrophy, Umbilical hernia, Cherry red spot of t...	ORPHA:93399
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4	Abnormal lower motor neuron morphology	OMIM:611067
Microphthalmia, Lenz Type	Abnormal clavicle morphology, Finger syndactyly, Cataract, Hypospadias, Camptodactyly of finger, ...	ORPHA:568
Boomerang Dysplasia	Absent radius, Hypoplastic iliac body, Neonatal death, Fibular aplasia	OMIM:112310
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Inguinal hernia, Congenital diaphragmatic hernia, Abnormally large globe, Developmental glaucoma,...	OMIM:245600
Meckel Syndrome	Encephalocele, Cataract, Anophthalmia, Abnormal chorioretinal morphology, Sclerocornea, Hydroceph...	ORPHA:564
Achalasia-Addisonianism-Alacrima Syndrome	Orthostatic hypotension, Optic atrophy, Anisocoria, Abnormal autonomic nervous system physiology,...	OMIM:231550
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Congenital hip dislocation, Delayed closure of the anter...	OMIM:619797
Meier-Gorlin Syndrome 6	Microretrognathia, Sandal gap, Patellar aplasia, Hip dysplasia, Short middle phalanx of finger, U...	OMIM:616835
Faciocardiomelic Dysplasia, Lethal	Hypoplasia of the ulna, Radial deviation of the hand, Talipes, Single transverse palmar crease, M...	OMIM:227270
Laurin-Sandrow Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Toe syndactyly, Tarsal synostosis, Talipes, A...	ORPHA:2378
Bresek Syndrome	Alopecia, Optic nerve hypoplasia, Postaxial hand polydactyly, Vesicoureteral reflux, Renal hypopl...	ORPHA:85284
Greig Cephalopolysyndactyly Syndrome	Broad hallux phalanx, Broad hallux, Hypospadias, 1-3 toe syndactyly, Craniosynostosis, Preaxial h...	OMIM:175700
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome	Abnormal lower motor neuron morphology	ORPHA:95434
Chondrodysplasia-Difference Of Sex Development Syndrome	Hypoplasia of the iris, Chorioretinal coloboma	ORPHA:1422
Rhizomelic Syndrome	Rhizomelia, Bifid distal phalanx of the thumb, Micrognathia, Wide anterior fontanel, Hip dislocat...	OMIM:268250
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies	Ureteral duplication, Corneal erosion, Optic disc coloboma	OMIM:270420
Oculomaxillofacial Dysostosis	Corneal opacity, Camptodactyly of finger	ORPHA:1794
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Brachydactyly, Bilateral single transverse palmar creases, Abnormality of the wrist, Pectus excav...	ORPHA:2511
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia, Split foot	OMIM:601349
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Pes planus, Urinary incontinence, Abnormality of the hand, Micrognathia, Unilateral radial aplasi...	ORPHA:476126
8Q21.11 Microdeletion Syndrome	Hypoplasia of penis, Cataract, Corneal opacity, Camptodactyly of finger, Sclerocornea, Microphtha...	ORPHA:284160
22Q11.2 Deletion Syndrome	Gastrointestinal hemorrhage, Inguinal hernia, Cataract, Hypospadias, Abnormal dental enamel morph...	ORPHA:567
Rhizomelic Syndrome, Urbach Type	Abnormal hair quantity, Abnormality of the knee, Brachydactyly, Rhizomelia, Micrognathia, Abnorma...	ORPHA:3098
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Megacystis, Nephrolithiasis, Mydriasis	OMIM:619365
Gm1-Gangliosidosis, Type Iii	Opacification of the corneal stroma	OMIM:230650
Cat Eye Syndrome	Micrognathia, Absent radius, Horseshoe kidney, Hydronephrosis, Umbilical hernia, Chorioretinal co...	OMIM:115470
Hurler-Scheie Syndrome	Aortic regurgitation, Inguinal hernia, Corneal opacity, Camptodactyly of finger, Heparan sulfate ...	OMIM:607015
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Reduced systolic function, Dilated cardiomyopathy, Cerebellar hypoplasia, Microphthalmia	OMIM:618805
Eales Disease	Anterior uveitis, Peripheral retinal neovascularization, Rhegmatogenous retinal detachment, Optic...	ORPHA:40923
Amyotrophic Lateral Sclerosis 4, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Pallor of dorsal columns o...	OMIM:602433
Proteus Syndrome	Abnormality of retinal pigmentation, Central heterochromia, Cataract, Abnormal dental enamel morp...	ORPHA:744
Langer Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Micrognathia, Hypoplasia of the radius, Madelung deformity...	OMIM:249700
Ulnar-Mammary Syndrome	Abnormal clavicle morphology, Abnormal morphology of the radius, Hypoplasia of penis, Camptodacty...	ORPHA:3138
17Q23.1Q23.2 Microdeletion Syndrome	Long toe, Pes planus, Sandal gap, Highly arched eyebrow, Long fingers, Patellar hypoplasia, Long ...	ORPHA:261279
Recessive Dystrophic Epidermolysis Bullosa Inversa	Urethral stricture, Atrophic scars, Corneal erosion, Enamel hypoplasia	ORPHA:79409
Ventriculomegaly With Defects Of The Radius And Kidney	Bowed forearm bones, Ureteral duplication, Absent thumb, Absent radius, Ectopic kidney, Horseshoe...	OMIM:602200
Gracile Bone Dysplasia	Aniridia, Microphthalmia, Hydrocephalus	OMIM:602361
Kniest Dysplasia	Hip contracture, Cataract, Rhizomelia, Enlarged joints, Dumbbell-shaped long bone, Pectus excavat...	OMIM:156550
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Death in infancy, Iliac crest serration, Micromelia, Wide distal femoral metaphysis, Delayed epip...	OMIM:613320
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Omphalocele, Death in infancy, Multicystic kidney dysplasia, Inguinal hernia, Hypospadias, Agangl...	OMIM:308205
Meier-Gorlin Syndrome 7	2-4 finger syndactyly, Urethral stricture, Hypospadias, Sagittal craniosynostosis, Bowing of the ...	OMIM:617063
Joubert Syndrome 32	Molar tooth sign on MRI, Abnormal cerebellum morphology, Hypertrophic cardiomyopathy	OMIM:617757
Symbrachydactyly Of Hands And Feet	Aplasia/Hypoplasia of the thumb, Abnormal morphology of ulna, Abnormality of the humerus, Aplasia...	ORPHA:1570
Cystinosis	Renal insufficiency, Corneal opacity, Proteinuria, Portal hypertension, Renal tubular dysfunction...	ORPHA:213
Joubert Syndrome 15	Molar tooth sign on MRI, Exencephaly	OMIM:614464
Lecithin:Cholesterol Acyltransferase Deficiency	Renal insufficiency, Corneal arcus, Proteinuria	OMIM:245900
Nance-Horan Syndrome	Microcornea, Microphthalmia, Short metacarpal, Cataract	ORPHA:627
Olmsted Syndrome 1	Flexion contracture, Corneal opacity, Opacification of the corneal stroma	OMIM:614594
Nanophthalmos	Microphthalmia, Abnormal choroid morphology	ORPHA:35612
Tetraamelia-Multiple Malformations Syndrome	Septo-optic dysplasia, Cataract, Multicystic kidney dysplasia, Micrognathia, Missing ribs, Abnorm...	ORPHA:3301
Meckel Syndrome, Type 10	Dilated fourth ventricle, Occipital encephalocele, Anencephaly, Cerebellar hypoplasia, Molar toot...	OMIM:614175
Baller-Gerold Syndrome	Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Micrognathia, Aplasia/Hypoplasia of th...	ORPHA:1225
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Hydrocephalus, Abnormal brainstem mo...	ORPHA:163961
Dermochondrocorneal Dystrophy	Subepithelial corneal opacities, Corneal dystrophy, Anterior cortical cataract	OMIM:221800
Rothmund-Thomson Syndrome	Hypoplasia of the ulna, Plantar hyperkeratosis, Sparse eyelashes, Alopecia totalis, Aplasia/Hypop...	ORPHA:2909
Al-Gazali Syndrome	Wrist flexion contracture, Corneal opacity, Hydronephrosis, Sclerocornea	OMIM:609465
Achondrogenesis, Type Ii	Stillbirth, Abnormally large globe	OMIM:200610
Amyotrophic Lateral Sclerosis 5, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:602099
Congenital Tufting Enteropathy	Optic disc coloboma, Corneal erosion, Cataract, Punctate keratitis	ORPHA:92050
Ophthalmomandibulomelic Dysplasia	Megalocornea, Opacification of the corneal stroma	OMIM:164900
Primary Lateral Sclerosis	Abnormal lower motor neuron morphology, Atrophy of the spinal cord, Cervical spinal cord atrophy,...	ORPHA:35689
Sandestig-Stefanova Syndrome	Prominent metopic ridge, Laterally extended eyebrow, Rocker bottom foot, Highly arched eyebrow, D...	OMIM:618804
Iatrogenic Botulism	Orthostatic hypotension, Urinary retention, Mydriasis	ORPHA:254509
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Wormian bones, Brachydactyly, Short distal phalanx of finger	ORPHA:2787
Tetrasomy 9P	Joint dislocation, Aplasia/Hypoplasia of the clavicles, Hyperactivity, Hypoplastic scapulae, Abno...	ORPHA:3310
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Motor axonal neuropathy, Mydriasis	ORPHA:247815
Waardenburg Syndrome, Type 2E	Ocular albinism, Blue irides, Hypoplasia of the iris, Heterochromia iridis, Iris hypopigmentation	OMIM:611584
Preaxial Polydactyly-Colobomata-Intellectual Disability Syndrome	Angle closure glaucoma, Retinal coloboma, Iris coloboma, Chorioretinal coloboma	ORPHA:2921
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development	Cataract, Band keratopathy, Impaired renal tubular reabsorption of bicarbonate, Bicarbonate-wasti...	OMIM:604278
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Optic disc pallor, Retinal coloboma, Optic nerve hypoplasia, Abnormally large globe	OMIM:300749
Hutchinson-Gilford Progeria Syndrome	Aortic regurgitation, Corneal opacity, Mitral stenosis, Angina pectoris, Myocardial infarction, L...	ORPHA:740
Waardenburg Syndrome, Type 1	Spina bifida, Myelomeningocele, Blue irides, Hypoplastic iris stroma, Heterochromia iridis	OMIM:193500
Genitopatellar Syndrome	Hip contracture, Multicystic kidney dysplasia, Congenital hip dislocation, Sparse scalp hair, Mic...	OMIM:606170
Autosomal Recessive Cutis Laxa Type 2A	Pes planus, Persistent open anterior fontanelle, Congenital hip dislocation, Corneal opacity, Thi...	ORPHA:357058
Potocki-Shaffer syndrome	Delayed cranial suture closure	DECIPHER:34
Cutis Laxa, Autosomal Dominant 3	Aortic regurgitation, Corneal opacity, Unilateral renal agenesis, Developmental cataract, Hernia	OMIM:616603
3Q29 Microduplication Syndrome	Cataract, Sclerocornea, Camptodactyly of toe, Aniridia, Microphthalmia, Iris coloboma	ORPHA:251038
Curry-Jones Syndrome	Bicoronal synostosis, Occipital meningocele, Wormian bones, Duplication of thumb phalanx, Preaxia...	OMIM:601707
Marfan Syndrome	Retinal detachment, Inguinal hernia, Flat cornea, Ectopia lentis, Lens luxation, Congestive heart...	ORPHA:558
Bilateral Frontoparietal Polymicrogyria	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Abnormal cerebellum morphology, Hypoplasia ...	ORPHA:101070
Trisomy 12P	Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye	ORPHA:1699
Langer Mesomelic Dysplasia	Bowing of the long bones, Abnormal morphology of ulna, Micromelia, Aplasia/Hypoplasia of the fibu...	ORPHA:2632
Oligoarticular Juvenile Idiopathic Arthritis	Cataract, Band keratopathy, Uveitis, Glaucoma, Anterior chamber synechiae	ORPHA:85410
Otopalatodigital Syndrome, Type Ii	Congenital hip dislocation, Micrognathia, Short metatarsal, Femoral bowing, Tibial bowing, Narrow...	OMIM:304120
Seckel Syndrome 1	Elbow flexion contracture, Enamel hypoplasia, Hypospadias, Abnormally large globe	OMIM:210600
Cutis Laxa, Autosomal Recessive, Type Iiia	Wide cranial sutures, Congenital hip dislocation, Cataract, Pectus excavatum, Hip dislocation, La...	OMIM:219150
Combined Immunodeficiency Due To Crac Channel Dysfunction	Hypoplasia of the iris	ORPHA:169090
Joubert Syndrome 6	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Chorioretina...	OMIM:610688
WAGR 11p13 deletion syndrome	Aniridia	DECIPHER:35
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3	Hypoplasia of the ulna, Pes planus, Tapered finger, Multiple joint dislocation, Hip dislocation, ...	OMIM:618395
Frontofacionasal Dysplasia	Encephalocele, Cataract, Brushfield spots, Microcornea, Limbal dermoid, Microphthalmia, Iris colo...	ORPHA:1791
Wound Botulism	Urinary retention, Cardiac arrest, Mydriasis	ORPHA:178475
Kniest Dysplasia	Arthropathy, Enlarged epiphyses, Enlarged joints, Abnormality of the epiphysis of the femoral hea...	ORPHA:485
Marfan Syndrome	Reduced subcutaneous adipose tissue, Retinal detachment, Aortic regurgitation, Cataract, Tricuspi...	OMIM:154700
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome	Hypoplasia of the ulna, Finger syndactyly, Hypoplasia of penis, Aplasia/Hypoplasia of the fibula,...	ORPHA:2256
3M Syndrome	Hypoplasia of the ulna, Scapular winging, Congenital hip dislocation, Hypospadias, Rocker bottom ...	ORPHA:2616
Axenfeld-Rieger Syndrome, Type 2	Inguinal hernia, Hypospadias, Microcornea, Glaucoma, Opacification of the corneal stroma, Umbilic...	OMIM:601499
Chromosome 11P13 Deletion Syndrome, Distal	Aniridia	OMIM:616902
Revesz Syndrome	Exudative retinopathy, Megalocornea, Leukocoria	OMIM:268130
Ulna Metaphyseal Dysplasia Syndrome	Abnormal morphology of ulna, Nephrolithiasis, Abnormal fibula morphology, Aplasia/Hypoplasia of t...	ORPHA:1837
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type	Hypoplasia of the ulna, Abnormal morphology of ulna, Micromelia, Elbow dislocation, Abnormal tibi...	ORPHA:2634
Spastic Paralysis, Infantile-Onset Ascending	Abnormal lower motor neuron morphology	OMIM:607225
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Short humerus, Proximal placement of thumb, Absent radius, Urethral atresia, Hand polydactyly, Ne...	OMIM:314390
Bent Bone Dysplasia Syndrome 1	Abnormally large globe	OMIM:614592
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Hypoplasia of the ulna, Sandal gap, Radial club hand, Short thumb, Hypoplasia ...	ORPHA:1972
Ichthyosis, Congenital, Autosomal Recessive 11	Corneal opacity	OMIM:602400
Craniometadiaphyseal Dysplasia	Broad long bones, Coxa valga, Abnormally large globe, Wide anterior fontanel, Cubitus valgus, Fla...	OMIM:269300
Cutis Laxa, Autosomal Recessive, Type Iiib	Inguinal hernia, Cataract, Developmental glaucoma, Flexion contracture, Elbow flexion contracture...	OMIM:614438
Gomez-Lopez-Hernandez Syndrome	Hyperactivity, Alopecia, Craniosynostosis, Wide anterior fontanel, Self-injurious behavior, Opaci...	OMIM:601853
Norrie Disease	Retinal detachment, Aplasia/Hypoplasia of the lens, Abnormal chorioretinal morphology, Corneal op...	ORPHA:649
Moebius Syndrome	Syndactyly, Brachydactyly, Pes planus, Micrognathia, Split hand, Hand clenching, Micropenis, Dysp...	OMIM:157900
Proteasome-Associated Autoinflammatory Syndrome 1	Hallux valgus, Hypoplastic scapulae, Camptodactyly of finger, Sparse axillary hair, Long fingers,...	OMIM:256040
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Iris coloboma	ORPHA:139450
Miller Fisher Syndrome	Anisocoria, Facial palsy, Mydriasis	ORPHA:98919
Ulnar Hypoplasia With Mental Retardation	Bilateral ulnar hypoplasia, Limitation of knee mobility, Talipes equinovarus, Limited elbow movement	OMIM:276821
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Rhizomelia, Sparse eyelashes, Postaxial polydactyly, Sparse eyebrow, Abnormal thorax mo...	OMIM:302960
Radial-Renal Syndrome	Absent radius, Ectopic kidney, Unilateral renal agenesis, Absent thumb	OMIM:179280
Lethal Kniest-Like Dysplasia	Abnormal ischium morphology, Broad long bones, Anterior rib cupping, Mesomelic/rhizomelic limb sh...	ORPHA:2347
Galactosialidosis	Conjunctival telangiectasia, Cherry red spot of the macula, Opacification of the corneal stroma	OMIM:256540
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome	Aniridia	ORPHA:1065
Thanatophoric Dysplasia, Glasgow Variant	Neonatal death, Cataract, Micromelia	OMIM:273680
Coloboma, Ocular, Autosomal Recessive	Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma	OMIM:216820
Toxin-Mediated Infectious Botulism	Mydriasis	ORPHA:230800
Cleidocranial Dysplasia 2	Pes planus, Down-sloping shoulders, Aplastic clavicle, Coxa valga, Wide anterior fontanel, Genu v...	OMIM:620099
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia, Optic atrophy	ORPHA:1574
Anauxetic Dysplasia 3	Sparse scalp hair, Short metacarpal, Broad eyebrow, Thoracolumbar kyphoscoliosis, Hip subluxation...	OMIM:618853
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Conjunctivitis	ORPHA:411777
Superficial Siderosis	Cerebellar atrophy, Subarachnoid hemorrhage, Internal hemorrhage, Abnormality of the vestibulococ...	ORPHA:247245
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Nephrotic syndrome, Mucopolysacchariduria, Proteinuria, Opacification of the corneal stroma	OMIM:215250
Joubert Syndrome 7	Molar tooth sign on MRI, Encephalocele, Hypoplasia of the brainstem, Brainstem dysplasia	OMIM:611560
20P13 Microdeletion Syndrome	Finger syndactyly, Highly arched eyebrow, Wide anterior fontanel, Synophrys, Microcornea, Polydac...	ORPHA:313781
Atelosteogenesis Type Iii	Absent humerus, Ulnar deviation of the wrist, Epiphyseal stippling of the humerus, Micrognathia, ...	ORPHA:56305
Radial Hemimelia	Abnormality of the trapezium, Abnormal thumb morphology, Aplasia of the 1st metacarpal, Aplasia/H...	ORPHA:93321
Mucolipidosis Iii Gamma	Aortic regurgitation, Aortic valve stenosis, Opacification of the corneal stroma	OMIM:252605
Oculocerebrocutaneous Syndrome	Anophthalmia, Orbital encephalocele, Microphthalmia, Agenesis of corpus callosum, Dandy-Walker ma...	OMIM:164180
Kapur-Toriello Syndrome	Cataract, Camptodactyly of finger, Single transverse palmar crease, Short thumb, Low posterior ha...	OMIM:244300
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Abnormally large globe	OMIM:239300
Warburg Micro Syndrome 3	Cataract, Micrognathia, Low anterior hairline, Developmental cataract, Microcornea, Ankle clonus,...	OMIM:614222
Tyrosinemia Type 2	Corneal opacity	ORPHA:28378
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Histiocytoid Cardiomyopathy	Wolff-Parkinson-White syndrome, Atrial flutter, Tachycardia, Corneal opacity, Atrial fibrillation...	ORPHA:137675
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Curly hair, Short tubular bones of the hand, Micrognathia, Coxa valga, Wide anterior fontanel, Ab...	ORPHA:85184
Maternal Uniparental Disomy Of Chromosome 1	Cataract, Talipes, Delayed closure of the anterior fontanelle, Single transverse palmar crease, A...	ORPHA:251009
Retinitis Pigmentosa 46	Optic disc pallor, Posterior subcapsular cataract, Pigmentary retinopathy, Rod-cone dystrophy, At...	OMIM:612572
Mosaic Trisomy 1	Thoracic scoliosis, Single transverse palmar crease, Renal cyst, Finger clinodactyly, Micropenis,...	ORPHA:1692
Joubert Syndrome 37	Molar tooth sign on MRI, Microphthalmia, Cerebellar vermis hypoplasia	OMIM:619185
Retinitis Pigmentosa 86	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, N...	OMIM:618613
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Cataract, Micrognathia, Microcornea, Iris transillumination defect, Clinodactyly of the 5th finge...	OMIM:617306
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development	Hypoplasia of the ulna, Short femur, Absent thumb, Fibular hypoplasia, Aplasia/Hypoplasia of the ...	OMIM:612447
Dihydropyrimidine Dehydrogenase Deficiency	Microphthalmia, Agenesis of corpus callosum, Optic atrophy	OMIM:274270
Ulnar Hypoplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of the hand, Hypoplasia of the radius, Mes...	OMIM:191440
Bartsocas-Papas Syndrome	Popliteal pterygium, Corneal opacity	ORPHA:1234
Biemond Syndrome Type 2	Microphthalmia, Hydrocephalus	ORPHA:141333
Insulin-Like Growth Factor I, Resistance To	Rieger anomaly	OMIM:270450
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Sponastrime Dysplasia	Delayed epiphyseal ossification, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epip...	ORPHA:93357
Microphthalmia, Syndromic 5	Cataract, Anophthalmia, Retinal dystrophy, Optic nerve hypoplasia, Microcornea, Microphthalmia, M...	OMIM:610125
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy	Metaphyseal widening, Low anterior hairline, Coxa vara, Metaphyseal cupping of metacarpals, Thora...	OMIM:300232
Melnick-Needles Syndrome	Bowing of the long bones, Micrognathia, Coxa valga, Short thorax, Abnormal rib morphology, Hip di...	ORPHA:2484
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Lateral clavicle hook, Metaphyseal widening, Preaxial polydactyly, Femoral bowing, Micropenis, Hy...	OMIM:613091
Refsum Disease	Short metacarpal, Cataract, Renal insufficiency, Abnormal foot morphology, Hammertoe, Abnormal ep...	ORPHA:773
Cenani-Lenz Syndactyly Syndrome	Syndactyly, Hypoplasia of the ulna, Broad hallux, Micrognathia, Pectus excavatum, Ectopic kidney,...	OMIM:212780
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Overlapping toe, Highly arched eyebrow, Tapered finger, Supernumerary nipple, 2-3 toe syndactyly,...	OMIM:618653
Cystinosis, Adult Nonnephropathic	Abnormal retinal morphology, Corneal crystals	OMIM:219750
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Elevated urinary 3-hydroxybutyric acid, Cataract, Broad hallux, Single transverse palmar crease, ...	OMIM:614105
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Proteinuria, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Corneal crystal...	OMIM:219900
Mmep Syndrome	Microphthalmia, Split foot, Triphalangeal thumb	ORPHA:3434
Multiple Epiphyseal Dysplasia Type 4	Micrognathia, Abnormal hand morphology, Metaphyseal widening, Short metatarsal, Coxa vara, Double...	ORPHA:93307
Cerebrooculofacioskeletal Syndrome 4	Premature closure of fontanelles, Rocker bottom foot, Camptodactyly of finger, Micrognathia, Addu...	OMIM:610758
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	11 pairs of ribs, Rhizomelia, Metaphyseal cupping of proximal phalanges, Thin ribs, Metaphyseal c...	OMIM:300863
Multiple Sulfatase Deficiency	Mucopolysacchariduria, Corneal opacity, Peripheral demyelination, Retinal degeneration	OMIM:272200
Fgfr2-Related Bent Bone Dysplasia	Hypoplastic ischia, Bowing of the legs, Micrognathia, Abnormality of the lower limb, Hirsutism, M...	ORPHA:313855
D-Lactic Aciduria With Gout	Aniridia	OMIM:245450
Coffin-Siris Syndrome 1	Dry hair, Single transverse palmar crease, Ectopic kidney, Prominent interphalangeal joints, Comp...	OMIM:135900
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Death in infancy, Rhizomelia, Micrognathia, Hypoplastic iliac wing, Metaphyseal chondrodysplasia,...	ORPHA:163966
Robin Sequence-Oligodactyly Syndrome	Abnormal morphology of ulna, Micrognathia, Hand oligodactyly, Abnormal metacarpal morphology, Cli...	ORPHA:3104
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Cataract, Corneal opacity, Ureteral stenosis, Ocular albinism, Choroideremia, Ir...	ORPHA:2719
Collagenoma, Familial Cutaneous	Iris atrophy, Tricuspid regurgitation, Right ventricular cardiomyopathy, Atrial fibrillation, Con...	OMIM:115250
Peroxisome Biogenesis Disorder 2A (Zellweger)	Cataract, Brushfield spots, Optic nerve dysplasia, Pigmentary retinopathy, Aminoaciduria, Opacifi...	OMIM:214110
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Absent thumb, Short thumb, Hypoplasia of the radius, Renal hypoplasia, Ho...	OMIM:609053
Joubert Syndrome 28	Molar tooth sign on MRI, Optic disc pallor	OMIM:617121
Dural Sinus Malformation	Papilledema, Cerebral hemorrhage, Ocular hypertension, Subarachnoid hemorrhage, Cerebellar hemorr...	ORPHA:97339
2Q31.1 Microdeletion Syndrome	Micrognathia, Abnormal tibia morphology, Synophrys, Low anterior hairline, Short palm, Clinodacty...	ORPHA:251014
Fibular Aplasia-Complex Brachydactyly Syndrome	Abnormal morphology of the radius, Brachydactyly, Bilateral single transverse palmar creases, Tar...	ORPHA:2639
Microphthalmia, Isolated, With Coloboma 6	Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia	OMIM:613703
Primary Lateral Sclerosis, Juvenile	Abnormal upper motor neuron morphology	OMIM:606353
Tangier Disease	Peripheral axonal neuropathy, Myocardial infarction, Facial diplegia, Opacification of the cornea...	OMIM:205400
Warburg Micro Syndrome 4	Cerebellar atrophy, Decreased motor nerve conduction velocity, Optic atrophy, Developmental catar...	OMIM:615663
Musculocontractural Ehlers-Danlos Syndrome	Retinal detachment, Inguinal hernia, Ocular hypertension, Functional abnormality of the bladder, ...	ORPHA:2953
Bruck Syndrome 2	Wormian bones, Elbow flexion contracture, Femoral bowing, Pectus carinatum, Knee flexion contract...	OMIM:609220
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Chorioretinal atrophy, Retinal degeneration, Corneal crystals	OMIM:210370
Spondylo-Ocular Syndrome	Pes planus, Abnormal eyebrow morphology, Cataract, Aplasia/Hypoplasia of the lens, Low posterior ...	ORPHA:85194
Lymphedema-Distichiasis Syndrome	Cataract, Proteinuria, Corneal erosion, Tubulointerstitial nephritis, Conjunctivitis, Arrhythmia	ORPHA:33001
Oculocerebrocutaneous Syndrome	Corneal opacity, Iris coloboma, Congenital diaphragmatic hernia	ORPHA:1647
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked	Corneal opacity, Hypospadias, Optic nerve hypoplasia, Abnormal left ventricular function, Astigma...	OMIM:301056
Nanophthalmos 4	Microphthalmia, Optic disc drusen	OMIM:615972
Retinitis Pigmentosa 25	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Chori...	OMIM:602772
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Cataract, Hypospadias, Cardiac conduction abnormality, Nephrolithiasis, Corneal scarring, Glaucom...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Cataract, Hypospadias, Cardiac conduction abnormality, Nephrolithiasis, Corneal scarring, Glaucom...	ORPHA:353277
Joubert Syndrome 3	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia, La...	OMIM:608629
Achondroplasia	Rhizomelia, Thoracic hypoplasia, Hip joint hypermobility, Bowing of the legs, Short proximal phal...	ORPHA:15
Botulism	Arrhythmia, Urinary retention, Mydriasis	ORPHA:1267
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Inguinal hernia, Micropenis, Hydronephrosis, Abnormally large globe	ORPHA:1655
Microphthalmia With Limb Anomalies	Anophthalmia, Single transverse palmar crease, 2-3 toe cutaneous syndactyly, Tibial bowing, Campt...	OMIM:206920
Congenital Fibrosis Of Extraocular Muscles	Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia, Cataract	ORPHA:45358
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Single transverse palmar crease, Wormian bones, Micropenis, Spar...	OMIM:601224
Acrofacial Dysostosis 1, Nager Type	Aplasia/Hypoplasia of the thumb, Sparse lower eyelashes, Micrognathia, Absent lower eyelashes, Hy...	OMIM:154400
Osteopathia Striata-Cranial Sclerosis Syndrome	Cataract, Micrognathia, Large fontanelles, High iliac wing, Asymmetry of the thorax, Large iliac ...	ORPHA:2780
Inhalational Botulism	Urinary retention, Mydriasis	ORPHA:254504
Okamoto Syndrome	Omphalocele, Urinary incontinence, Abnormally large globe, Unilateral renal hypoplasia, Astigmati...	ORPHA:2729
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Missing ribs, Hypoplasia of the radius, ...	OMIM:184705
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Large posterior fontanelle, Postaxial polydactyly, Micrognathia, Lateral clavicle hook, Wide ante...	OMIM:617925
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly	Lateral clavicle hook, Early ossification of capital femoral epiphyses, Renal cyst, Thoracic dysp...	OMIM:208500
Angioosteohypotrophic Syndrome	Hypoplasia of the ulna, Short humerus, Aplasia/hypoplasia involving bones of the upper limbs, Abn...	ORPHA:75508
Premature Aging Syndrome, Penttinen Type	Brachydactyly, Corneal opacity, Micrognathia, Hyperextensibility of the knee, Palmoplantar hyperk...	OMIM:601812
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Absent frontal sinuses, Femoral bowing, Broad distal ph...	OMIM:311300
Microphthalmia, Isolated 4	Microphthalmia, Postaxial polydactyly	OMIM:613094
Retinoblastoma	Abnormality of retinal pigmentation, Subretinal pigment epithelium hemorrhage, Hyphema, Leukocori...	ORPHA:790
Joubert Syndrome 1	Optic disc pallor, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem dysplas...	OMIM:213300
Fanconi Anemia, Complementation Group U	Absent thumb, Absent radius, Ectopic kidney, Hypoplasia of the radius, Aplasia of the 1st metacar...	OMIM:617247
Robinow Syndrome, Autosomal Recessive 1	Micrognathia, Nephrocalcinosis, Short palm, Micropenis, Duplication of the distal phalanx of hand...	OMIM:268310
Dubowitz Syndrome	Hypoplasia of the iris, Microphthalmia, Megalocornea, Iris coloboma	OMIM:223370
Linear Skin Defects With Multiple Congenital Anomalies 3	Cardiac arrest, Sclerocornea, Dilated cardiomyopathy, Ventricular tachycardia, Histiocytoid cardi...	OMIM:300952
Ivic Syndrome	Hypoplasia of the ulna, Short femur, Limited interphalangeal movement, Limited elbow movement, Ab...	OMIM:147750
Vacterl With Hydrocephalus	Anophthalmia, Spina bifida, Aqueductal stenosis, Hydrocephalus, Microcornea, Microphthalmia	ORPHA:3412
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Hypospadias, Sclerocornea, Congenital diaphragmatic hernia, Junctional ectopic tachycar...	OMIM:309801
Congenital Disorder Of Glycosylation, Type Iq	Microphthalmia, Cerebellar vermis hypoplasia, Optic atrophy, Cataract	OMIM:612379
Fucosidosis	Lipoatrophy, Mucopolysacchariduria, Corneal opacity	ORPHA:349
Hartsfield Syndrome	Encephalocele, Craniosynostosis, Split hand, Aplasia/Hypoplasia of the radius, Microphthalmia	ORPHA:2117
Acromelic Frontonasal Dysplasia	Encephalocele, Meningocele, Large fontanelles, Patellar hypoplasia, Talipes equinovarus, Preaxial...	ORPHA:1827
Acromesomelic Dysplasia 3	Carpal synostosis, Hypoplasia of the ulna, Brachydactyly, Tarsal synostosis, Short toe, Short 1st...	OMIM:609441
Joubert Syndrome 31	Molar tooth sign on MRI	OMIM:617761
Alkuraya-Kucinskas Syndrome	Cataract, Hydrocephalus, Hypoplasia of the brainstem, Kinked brainstem, Cerebellar hypoplasia, Da...	OMIM:617822
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Preaxial polydactyly, Renal cyst, Narrow greater sciatic notch, Narrow chest, Short tibia, Unicor...	OMIM:616300
Cerebellar-Facial-Dental Syndrome	Cataract, Abnormal midbrain morphology, Hypoplasia of the pons, Hypoplasia of the brainstem, Cere...	ORPHA:444072
Focal Segmental Glomerulosclerosis 10	Renal insufficiency, Proteinuria, Minimal change glomerulonephritis, Stage 5 chronic kidney disea...	OMIM:256020
Foodborne Botulism	Arrhythmia, Urinary retention, Mydriasis	ORPHA:228371
Frontorhiny	Encephalocele, Cataract, Camptodactyly of finger, Widow's peak, Hypoplastic frontal sinuses, Fing...	ORPHA:391474
Ulnar Hypoplasia-Split Foot Syndrome	Split hand, Aplasia/Hypoplasia of the radius, Split foot, Hypoplasia of the ulna	ORPHA:1122
Femur-Fibula-Ulna Complex	Short humerus, Finger syndactyly, Abnormal morphology of ulna, Micromelia, Humeroradial synostosi...	ORPHA:2019
Warburg Micro Syndrome 2	Cataract, Overlapping toe, Low anterior hairline, Developmental cataract, Microcornea, Microphtha...	OMIM:614225
Radial Aplasia, X-Linked	Absent radius, Penile hypospadias	OMIM:312190
Linear Verrucous Nevus Syndrome	Cataract, Abnormal cornea morphology, Dandy-Walker malformation, Iris coloboma, Aplasia/Hypoplasi...	ORPHA:2611
Intellectual Developmental Disorder And Retinitis Pigmentosa	Optic disc pallor, Bone spicule pigmentation of the retina, Posterior subcapsular cataract, Macul...	OMIM:618195
Nance-Horan Syndrome	Developmental cataract, Microcornea, Posterior Y-sutural cataract, Broad finger, Microphthalmia, ...	OMIM:302350
Acrorenal Syndrome	Renal insufficiency, Abnormal morphology of ulna, Micrognathia, Abnormal tibia morphology, Split ...	ORPHA:971
Neurooculocardiogenitourinary Syndrome	Microphthalmia, Abnormal cerebellum morphology, Tricuspid regurgitation, Peters anomaly	OMIM:618652
Hurler Syndrome	Aortic regurgitation, Inguinal hernia, Corneal opacity, Heparan sulfate excretion in urine, Flexi...	OMIM:607014
Coach Syndrome 1	Encephalocele, Occipital encephalocele, Optic disc pallor, Cerebellar vermis hypoplasia, Portal h...	OMIM:216360
Trichinellosis	Facial palsy, Central retinal artery occlusion, Retinal hemorrhage, Anisocoria, Conjunctivitis, A...	ORPHA:863
Multiple Osteochondromas	Deformed radius, Abnormal hand morphology, Abnormal tibia morphology, Metaphyseal widening, Abnor...	ORPHA:321
Joubert Syndrome 35	Molar tooth sign on MRI, Elongated superior cerebellar peduncle, Cerebellar vermis hypoplasia	OMIM:618161
Fryns Microphthalmia Syndrome	Microphthalmia, Neural tube defect, Anophthalmia	OMIM:600776
Cohen Syndrome	Finger syndactyly, Chorioretinal dystrophy, Arachnodactyly, Sandal gap, Thick hair, Micrognathia,...	ORPHA:193
Neurofacioskeletal Syndrome With Or Without Renal Agenesis	Hypoplasia of the iris, Anterior polar cataract, Posterior embryotoxon, Agenesis of corpus callosum	OMIM:619194
Nephroblastoma	Aniridia, Hypertension	ORPHA:654
1Q21.1 Microdeletion Syndrome	Broad hallux phalanx, Toe syndactyly, Cataract, Vesicoureteral reflux, Short foot, Hydronephrosis...	ORPHA:250989
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Microphthalmia, Cataract	ORPHA:363741
Mesomelic Dysplasia, Savarirayan Type	Broad tibial metaphyses, Bowing of the long bones, Glenoid fossa hypoplasia, Elbow dislocation, H...	ORPHA:85170
Sifrim-Hitz-Weiss Syndrome	Renal insufficiency, Wormian bones, Tapered finger, Flat acetabular roof, Fused cervical vertebra...	OMIM:617159
Osteogenesis Imperfecta, Type Ii	Crumpled long bones, Broad long bones, Wormian bones, Beaded ribs, Large fontanelles, Tibial bowi...	OMIM:166210
Schwartz-Jampel Syndrome	Micromelia, Micrognathia, Low anterior hairline, Coxa vara, Pectus carinatum, Microcornea, Wrist ...	ORPHA:800
Mesomelic Dysplasia, Nievergelt Type	Finger syndactyly, Bilateral single transverse palmar creases, Abnormal morphology of ulna, Micro...	ORPHA:2633
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome	Cerebellar dysplasia, Dilated fourth ventricle, Elongated superior cerebellar peduncle, Abnormal ...	ORPHA:370022
Summitt Syndrome	Finger syndactyly, Prominent metopic ridge, Camptodactyly of finger, Craniosynostosis, Genu valgu...	ORPHA:3210
Congenital Arthrogryposis With Anterior Horn Cell Disease	Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology	OMIM:611890
Infant Botulism	Cardiac arrest, Hypertension, Keratoconjunctivitis sicca, Hypotension, Mydriasis	ORPHA:178478
Schimmelpenning-Feuerstein-Mims Syndrome	Hyperphosphaturia, Corneal opacity, Horseshoe kidney	OMIM:163200
Phace Syndrome	Cataract, Optic nerve hypoplasia, Sclerocornea, Lens coloboma, Glaucoma, Retinal vascular malform...	ORPHA:42775
Frontometaphyseal Dysplasia	Single transverse palmar crease, Limited elbow movement, Micrognathia, Metaphyseal widening, Shor...	ORPHA:1826
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Anophthalmia, Polydactyly, Narrow chest, Polycystic kidne...	OMIM:613885
Mucopolysaccharidosis Type 7	Umbilical hernia, Inguinal hernia, Mucopolysacchariduria, Corneal opacity	ORPHA:584
Adams-Oliver Syndrome	Encephalocele, Finger syndactyly, Brachydactyly, Cataract, Alopecia, Talipes, Abnormality of the ...	ORPHA:974
Weismann-Netter Syndrome	Bowing of the long bones, Abnormal morphology of ulna, Abnormality of the humerus, Abnormal tibia...	ORPHA:3344
Acrodysostosis	Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the radius, Abnormal morphology ...	ORPHA:950
Isolated Split Hand-Split Foot Malformation	Aniridia	ORPHA:2440
Slc35A2-Cdg	Cerebellar atrophy, Abnormal midbrain morphology, Lateral ventricle dilatation, Atrophy/Degenerat...	ORPHA:356961
Basal Cell Nevus Syndrome 1	Vertebral fusion, Cataract, Down-sloping shoulders, Spina bifida, Palmar pits, Plantar pits, Irre...	OMIM:109400
Isolated Congenital Alacrima	Keratitis, Corneal erosion, Conjunctivitis	ORPHA:91416
Mucopolysaccharidosis Type 1	Inguinal hernia, Corneal opacity, Congestive heart failure, Optic atrophy, Glaucoma, Mucopolysacc...	ORPHA:579
Joubert Syndrome 33	Molar tooth sign on MRI	OMIM:617767
Charcot-Marie-Tooth Disease Type 4C	Decreased motor nerve conduction velocity, Decreased number of peripheral myelinated nerve fibers...	ORPHA:99949
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Arthropathy, Abnormal hand morphology, Sclerotic cranial sutures, Osteolysis involving bones of t...	ORPHA:371428
Osteogenesis Imperfecta, Type Iii	Protrusio acetabuli, Micrognathia, Wide anterior fontanel, Tibial bowing, Thin ribs, Slender long...	OMIM:259420
Incontinentia Pigmenti	Retinal detachment, Cataract, Abnormal chorioretinal morphology, Corneal opacity, Abnormal dental...	ORPHA:464
Dubowitz Syndrome	Aplasia/Hypoplasia of the thumb, Abnormality of thumb phalanx, Micrognathia, Low anterior hairlin...	ORPHA:235
Acrofrontofacionasal Dysostosis 1	Iris atrophy, Short metacarpal, Long eyebrows, Pectus excavatum, Widow's peak, Long eyelashes, Mi...	OMIM:201180
Joubert Syndrome 20	Molar tooth sign on MRI	OMIM:614970
Primary Pulmonary Hypoplasia	Ureteral stenosis, Patellar hypoplasia, Micrognathia	ORPHA:2257
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Desbuquois Dysplasia 1	Developmental glaucoma	OMIM:251450
Schimke Immuno-Osseous Dysplasia	Corneal opacity, Proteinuria, Transient ischemic attack, Minimal change glomerulonephritis, Conge...	ORPHA:1830
Distal Deletion 10Q	Single transverse palmar crease, Micrognathia, 2-3 toe cutaneous syndactyly, Functional abnormali...	ORPHA:96148
Cortical Dysplasia, Complex, With Other Brain Malformations 12	Prominent metopic ridge, Clinodactyly, Astigmatism, Death in childhood	OMIM:620316
Retinitis Pigmentosa 56	Optic disc pallor, Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, P...	OMIM:613581
Brachydactyly-Elbow Wrist Dysplasia Syndrome	Brachydactyly, Abnormal distal phalanx morphology of finger, Abnormal morphology of ulna, Abnorma...	ORPHA:1275
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:105550
Hurler Syndrome	Death in infancy, Corneal opacity, Camptodactyly of finger, Angina pectoris, Glaucoma, Cardiomyop...	ORPHA:93473
Lethal Osteosclerotic Bone Dysplasia	Mandibular aplasia, Large fontanelles, Delayed cranial suture closure, Micrognathia	ORPHA:1832
Boomerang Dysplasia	Finger syndactyly, Abnormal morphology of the radius, Abnormal morphology of ulna, Micromelia, Ap...	ORPHA:1263
Spondylometaphyseal Dysplasia, Pagnamenta Type	Pes planus, Rhizomelia, Femoral bowing, Thoracic kyphosis, Wormian bones, Short 4th metacarpal, B...	OMIM:619638
Grant Syndrome	Tibial bowing, Wormian bones, Down-sloping shoulders, Micrognathia	OMIM:138930
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Thoracic scoliosis, Micrognathia, Thoracic kyphosis, Short palm, Clinodactyly of the 5th finger, ...	ORPHA:508498
Microphthalmia, Syndromic 1	Anophthalmia, Abnormal palmar dermatoglyphics, Microcornea, Narrow chest, Chorioretinal coloboma,...	OMIM:309800
Baraitser-Winter Syndrome 1	Highly arched eyebrow, Duplication of phalanx of hallux, Low posterior hairline, Chorioretinal co...	OMIM:243310
Sanjad-Sakati Syndrome	Hypoplasia of penis, Astigmatism, Corneal opacity, Abnormal dental enamel morphology	ORPHA:2323
Marden-Walker Syndrome	Arachnodactyly, Hypospadias, Micrognathia, Wide anterior fontanel, Renal hypoplasia, Radioulnar s...	OMIM:248700
Saethre-Chotzen Syndrome	Buphthalmos	OMIM:101400
Microphthalmia With Limb Anomalies	Micrognathia, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly, Clinodactyly of...	ORPHA:1106
Ocular Cystinosis	Corneal crystals	ORPHA:411641
3Q29 Microdeletion Syndrome	Cataract, Hypospadias, Tapered finger, Pectus excavatum, Aggressive behavior, Horseshoe kidney, P...	ORPHA:65286
Acrofacial Dysostosis Syndrome Of Rodriguez	11 pairs of ribs, Overlapping toe, Single transverse palmar crease, Micrognathia, Wide anterior f...	OMIM:201170
3Mc Syndrome 3	Micropenis, Corneal opacity, Penoscrotal hypospadias, Horseshoe kidney	OMIM:248340
Arachnoid Cyst	Encephalocele, Facial palsy, Subarachnoid hemorrhage, Abnormal cerebellum morphology, Hydrocephal...	ORPHA:2356
Say-Barber-Miller Syndrome	Thoracic kyphoscoliosis, Abnormality of the hairline, Craniosynostosis, Micrognathia, Highly arch...	ORPHA:3132
Desbuquois Dysplasia 2	Single transverse palmar crease, Metaphyseal widening, Synophrys, Pectus carinatum, Knee dislocat...	OMIM:615777
Mend Syndrome	Hyperactivity, Cataract, Broad hallux, Overlapping toe, Micrognathia, Aggressive behavior, Long f...	ORPHA:401973
Congenital Toxoplasmosis	Microphthalmia, Hydrocephalus	ORPHA:858
Noonan Syndrome 13	Micrognathia, Enlarged thorax, Generalized hirsutism, Prominent metopic ridge, Highly arched eyeb...	OMIM:619087
Dyssegmental Dysplasia, Silverman-Handmaker Type	Occipital encephalocele, Bowing of the long bones, Cataract, Micromelia, Micrognathia, Short long...	OMIM:224410
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the ...	OMIM:619306
Basel-Vanagaite-Smirin-Yosef Syndrome	Single transverse palmar crease, Pectus carinatum, Microcornea, Male urethral meatus stenosis, Fi...	ORPHA:464738
Acrocallosal Syndrome	Abnormal clavicle morphology, Hypospadias, Wide anterior fontanel, Postaxial hand polydactyly, Tr...	ORPHA:36
Distal Deletion 17Q	Aplasia/Hypoplasia of the thumb, Prominent metopic ridge, Micromelia, Abnormal thumb morphology, ...	ORPHA:1597
Chromosome 8Q21.11 Deletion Syndrome	Cataract, Sclerocornea, Pigmentary retinopathy, Camptodactyly, Microphthalmia, Micropenis	OMIM:614230
Osteogenesis Imperfecta, Type V	Pes planus, Hyperextensibility of the finger joints, Abnormal pelvic girdle bone morphology, Worm...	OMIM:610967
Fryns Syndrome	Omphalocele, Multicystic kidney dysplasia, Corneal opacity, Hypospadias, Congenital diaphragmatic...	ORPHA:2059
Fanconi Anemia, Complementation Group E	Absent thumb, Absent radius, Short thumb, Ectopic kidney, Horseshoe kidney, Microphthalmia, Compl...	OMIM:600901
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Short humerus, Hypoplasia of the ulna, Radial club hand, Ulnar b...	ORPHA:2878
Fanconi Anemia, Complementation Group B	Death in infancy, Optic disc hypoplasia, Absent thumb, Bilateral radial aplasia, Micropenis	OMIM:300514
Peroxisome Biogenesis Disorder 1A (Zellweger)	Single transverse palmar crease, Micrognathia, Aminoaciduria, Death in childhood, Ulnar deviation...	OMIM:214100
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Microphthalmia, Anophthalmia	ORPHA:85275
Mucopolysaccharidosis Type 4	Corneal opacity, Abnormal dental enamel morphology, Grayish enamel, Mucopolysacchariduria, Hernia	ORPHA:582
Hepatic Lipase Deficiency	Corneal arcus, Angina pectoris	OMIM:614025
Radius, Aplasia Of, With Cleft Lip/Palate	Absent radius	OMIM:179400
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism	ORPHA:357175
Mucopolysaccharidosis, Type Ivb	Inguinal hernia, Corneal opacity, Grayish enamel, Mitral regurgitation, Opacification of the corn...	OMIM:253010
Cutis Marmorata Telangiectatica Congenita	Finger syndactyly, Multicystic kidney dysplasia, Toe syndactyly, Micrognathia, Abnormality of the...	ORPHA:1556
Mosaic Trisomy 9	Hypoplasia of penis, Corneal opacity, Rocker bottom foot, Micromelia, Micrognathia, Camptodactyly...	ORPHA:99776
Charge Syndrome	Anophthalmia, Abnormal palmar dermatoglyphics, Micrognathia, Hand monodactyly, Micropenis, Iris c...	OMIM:214800
Mucolipidosis Iii Alpha/Beta	Aortic regurgitation, Hyperopic astigmatism, Opacification of the corneal stroma, Retinopathy, Re...	OMIM:252600
Ring Chromosome 4 Syndrome	Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ...	ORPHA:1447
Adult Krabbe Disease	Prolonged brainstem auditory evoked potentials, Abnormal pons morphology, Abnormal medulla oblong...	ORPHA:206448
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia, Hydrocephalus	OMIM:602501
Otodental Syndrome	Cataract, Lens coloboma, Microcornea, Microphthalmia, Iris coloboma	ORPHA:2791
Blomstrand Lethal Chondrodysplasia	Short metacarpal, Cataract, Rhizomelia, Bowing of the long bones, Aplastic clavicle, Micrognathia...	ORPHA:50945
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Hyperactivity, Restlessness, Abnormality of the hand, Aggressive behavior, Abnormal f...	ORPHA:369891
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Multiple rib fractures, Short femur, Fractured radius, Hypospadias, Wormian bones, Beaded ribs, D...	OMIM:616897
Holoprosencephaly 7	Alobar holoprosencephaly, Hydrocephalus, Bilateral microphthalmos, Partial agenesis of the corpus...	OMIM:610828
Fanconi Anemia, Complementation Group L	Hypoplastic sacrum, Unilateral renal agenesis, Absent thumb, Absent radius, Micrognathia, Renal h...	OMIM:614083
Hallermann-Streiff Syndrome	Sparse scalp hair, Hyperactivity, Cataract, Sparse eyelashes, Spina bifida, Micrognathia, Pectus ...	OMIM:234100
Peroxisome Biogenesis Disorder 3A (Zellweger)	Epiphyseal stippling, Wide anterior fontanel, Polycystic kidney dysplasia	OMIM:614859
Gapo Syndrome	Keratoconus, Alopecia, Sparse eyelashes, Delayed closure of the anterior fontanelle, Micrognathia...	OMIM:230740
Short Stature-Wormian Bones-Dextrocardia Syndrome	Camptodactyly of finger, Micrognathia, Midshaft hypospadias, Long eyelashes, Wormian bones, Brach...	ORPHA:2863
Osteogenesis Imperfecta, Type Xiii	Angulated humerus, Arachnodactyly, Wide distal femoral metaphysis, Generalized hirsutism, Femoral...	OMIM:614856
Arms, Malformation Of	Hypoplasia of the ulna, Radioulnar synostosis, Hypoplasia of the radius	OMIM:107900
Apolipoprotein A-I Deficiency	Angina pectoris, Opacification of the corneal stroma	ORPHA:425
Donnai-Barrow Syndrome	Proteinuria, Wide anterior fontanel, Widow's peak, Umbilical hernia, Iris coloboma	ORPHA:2143
Fanconi Anemia, Complementation Group A	Absent thumb, Absent radius, Short thumb, Ectopic kidney, Horseshoe kidney, Microphthalmia, Compl...	OMIM:227650
Mandibuloacral Dysplasia With Type A Lipodystrophy	Aplasia/Hypoplasia of the clavicles, Alopecia, Cataract, Abnormal eyebrow morphology, Absent eyel...	ORPHA:90153
3Mc Syndrome 1	Conjunctival telangiectasia, Single interphalangeal crease of fifth finger, Highly arched eyebrow...	OMIM:257920
Scalp-Ear-Nipple Syndrome	Finger syndactyly, Renal insufficiency, Cataract, Unilateral renal agenesis, Sparse axillary hair...	OMIM:181270
Coffin-Siris Syndrome 6	Micrognathia, Pectus excavatum, Tics, Attention deficit hyperactivity disorder, Wormian bones, Cl...	OMIM:617808
Joubert Syndrome 27	Molar tooth sign on MRI	OMIM:617120
Fanconi Anemia, Complementation Group D2	Absent thumb, Absent radius, Preaxial hand polydactyly, Short thumb, Partial duplication of thumb...	OMIM:227646
1Q41Q42 Microdeletion Syndrome	Abnormality iris morphology, Congenital diaphragmatic hernia	ORPHA:250999
Retinoblastoma	Vitritis, Leukocoria, Retinal calcification, Vitreous hemorrhage, Retinoblastoma	OMIM:180200
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Micrognathia, Synophrys, Clinodactyly, Hirsutism	OMIM:615162
Trisomy 18	Microretrognathia, Cataract, Camptodactyly of finger, Spina bifida, Abnormality of the lower limb...	ORPHA:3380
Rothmund-Thomson Syndrome, Type 2	Congenital hip dislocation, Micrognathia, Microcornea, Premature graying of hair, Short palm, Spa...	OMIM:268400
Auriculoosteodysplasia	Abnormal clavicle morphology, Elbow dislocation, Hip dysplasia, Aplasia/Hypoplasia of the radius,...	ORPHA:114
Osteogenesis Imperfecta, Type Vii	Multiple rib fractures, Crumpled long bones, Death in infancy, Rhizomelia, Protrusio acetabuli, M...	OMIM:610682
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Hypoplasia of penis, Hydroureter, Camptodactyly of finger, Micrognathia, Symphalangism affecting ...	ORPHA:2547
Proboscis Lateralis	Cataract, Corneal opacity, Anophthalmia, Unilateral renal agenesis, Optic nerve hypoplasia, Optic...	ORPHA:141099
Microphthalmia, Syndromic 12	Neonatal death, Microphthalmia, Anophthalmia, Micrognathia	OMIM:615524
Gorlin-Chaudhry-Moss Syndrome	Umbilical hernia, Astigmatism, Sclerocornea	ORPHA:2095
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Missing ribs, Abnormality of the humerus...	ORPHA:3186
Cerebellofaciodental Syndrome	Hypoplasia of the pons, Hypoplasia of the midbrain, Cataract, Cerebellar hypoplasia	OMIM:616202
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Optic nerve hypoplasia, Dysplastic corpus callosum, Microphthalmia, Agenesis ...	OMIM:614833
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Anophthalmia, Tricuspid regurgitation, Corneal dystrophy, Mitral regurgitation, Aniridia, Umbilic...	ORPHA:1101
Serotonin Syndrome	Tachycardia, Hypertension, Hypotension, Abnormality of the autonomic nervous system, Acute kidney...	ORPHA:43116
Gm1 Gangliosidosis	Inguinal hernia, Corneal opacity, Camptodactyly of finger, Abnormal retinal vascular morphology, ...	ORPHA:354
Mesomelic Dysplasia, Savarirayan Type	Delayed closure of the anterior fontanelle, Abnormal foot morphology, Abnormal thorax morphology,...	OMIM:605274
Focal Dermal Hypoplasia	Ureteral duplication, Congenital hip dislocation, Anophthalmia, Brittle hair, Osteopathia striata...	OMIM:305600
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Microretrognathia, Cataract, Overlapping toe, Pectus excavatum, Astigmatism, Horizontal eyebrow, ...	OMIM:618571
Fabry Disease	Conjunctival telangiectasia, Bundle branch block, Corneal dystrophy, Atrioventricular block, Neph...	ORPHA:324
Teebi Hypertelorism Syndrome 2	Syndactyly, Hypospadias, Wide anterior fontanel, Attention deficit hyperactivity disorder, Clinod...	OMIM:619736
Microphthalmia, Isolated 1	Microphthalmia, Anophthalmia	OMIM:251600
Hypophosphatasia, Infantile	Death in infancy, Elevated urine pyrophosphate, Micromelia, Bowing of the legs, Craniosynostosis,...	OMIM:241500
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia	Short foot, Wormian bones, Upper limb undergrowth, Toe clinodactyly	ORPHA:166277
Distal Duplication 5Q	Hypoplasia of the ulna, Hypospadias, Craniosynostosis, Absent thumb, Micrognathia, Hypoplasia of ...	ORPHA:96097
1p36 microdeletion syndrome	Delayed cranial suture closure	DECIPHER:18
Xk Aprosencephaly Syndrome	Microphthalmia, Abnormal morphology of the radius	ORPHA:3469
Wolf-Hirschhorn Syndrome	Single transverse palmar crease, Micrognathia, Abnormal repetitive mannerisms, Iris coloboma, Ver...	OMIM:194190
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Micrognathia, Pectus carinatum, Abnormal calcification of the car...	OMIM:271665
Coach Syndrome 3	Molar tooth sign on MRI	OMIM:619113
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Hypospadias, Single transverse palmar crease, 2-3 toe syndactyly, Pectus carinatum, Mic...	OMIM:616449
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma	ORPHA:3453
Boucher-Neuhauser Syndrome	Abnormal upper motor neuron morphology	OMIM:215470
Congenital Fibrinogen Deficiency	Microphthalmia, Clubbing of fingers, Micropenis, Developmental cataract	ORPHA:335
Crome Syndrome	Developmental cataract, Cerebellar dysplasia	OMIM:218900
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Anisocoria, Orthostatic hypotension	OMIM:615510
White-Sutton Syndrome	Overfriendliness, Hyperactivity, Optic nerve hypoplasia, Micrognathia, Aggressive behavior, Hypop...	OMIM:616364
Polyglucosan Body Neuropathy, Adult Form	Abnormal upper motor neuron morphology	OMIM:263570
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome	Wormian bones	ORPHA:2773
Micro Syndrome	Cerebellar vermis hypoplasia, Cataract, Abnormal cerebellum morphology, Optic atrophy, Microcorne...	ORPHA:2510
Otopalatodigital Syndrome Type 2	Omphalocele, Cataract, Hypospadias, Camptodactyly of finger, Ureteral obstruction, Developmental ...	ORPHA:90652
Al-Gazali-Bakalinova Syndrome	Molar tooth sign on MRI, Agenesis of corpus callosum	OMIM:607131
Lethal Congenital Contracture Syndrome 1	Paucity of anterior horn motor neurons	OMIM:253310
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome	Aniridia	OMIM:194072
Idiopathic Congenital Hypothyroidism	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95717
Van Maldergem Syndrome 2	Short fourth metatarsal, Wide cranial sutures, Hypospadias, Ulnar deviation of the hand, Microgna...	OMIM:615546
Fibular Aplasia-Ectrodactyly Syndrome	Split hand, Abnormal morphology of ulna, Aplasia/Hypoplasia of the fibula	ORPHA:1118
Silver-Russell Syndrome 1	Syndactyly, Urethral valve, Hypospadias, Micrognathia, Abnormal foot morphology, Abnormality of t...	OMIM:180860
Joubert Syndrome 8	Molar tooth sign on MRI, Occipital encephalocele, Optic disc pallor	OMIM:612291
Van Maldergem Syndrome 1	Short fourth metatarsal, Wide cranial sutures, Hypospadias, Micrognathia, Wide anterior fontanel,...	OMIM:601390
Autosomal Recessive Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Thin clavicles, Small hand, Thin ribs, Short ...	ORPHA:93324
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Microphthalmia, Corneal opacity, Delayed peripheral myelination	ORPHA:364577
Xeroderma Pigmentosum, Complementation Group B	Cerebellar atrophy, Cataract, Decreased nerve conduction velocity, Optic atrophy, Microphthalmia	OMIM:610651
Intellectual Developmental Disorder, Autosomal Dominant 48	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Lateral vent...	OMIM:617751
Blau Syndrome	Nongranulomatous uveitis, Pericarditis, Cataract, Camptodactyly of finger, Band keratopathy, Uvei...	OMIM:186580
Microphthalmia, Syndromic 3	Optic nerve aplasia, Anophthalmia, Cataract, Hypospadias, Sclerocornea, Optic nerve hypoplasia, M...	OMIM:206900
Fanconi Anemia, Complementation Group C	Absent thumb, Absent radius, Short thumb, Ectopic kidney, Horseshoe kidney, Microphthalmia, Compl...	OMIM:227645
Osteogenesis Imperfecta, Type Ix	Beaded ribs, Pectus excavatum, Pectus carinatum, Wormian bones, Short lower limbs	OMIM:259440
3P25.3 Microdeletion Syndrome	Broad hallux, Overlapping toe, Proximal placement of thumb, Tapered finger, Micrognathia, Postaxi...	ORPHA:435638
Visual Impairment And Progressive Phthisis Bulbi	Phthisis bulbi, Flat cornea	OMIM:618283
Bickerstaff Brainstem Encephalitis	Decreased motor nerve conduction velocity, Facial palsy, Abnormal cranial nerve morphology, Aniso...	ORPHA:79138
Microphthalmia With Linear Skin Defects Syndrome	Anophthalmia, Chorioretinal dysplasia, Sclerocornea, Congenital diaphragmatic hernia, Epispadias,...	ORPHA:2556
Acromelic Frontonasal Dysostosis	Encephalocele, Syndactyly, Optic nerve hypoplasia, Preaxial polydactyly, Preaxial foot polydactyl...	OMIM:603671
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy	Occipital encephalocele, Cerebellar vermis hypoplasia, Abnormal cerebellum morphology, Meningocel...	ORPHA:397715
Joubert Syndrome 39	Molar tooth sign on MRI, Occipital encephalocele, Cerebellar vermis hypoplasia	OMIM:619562
Moebius Syndrome	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Brachydactyly, Corneal opacity, Abnormal morp...	ORPHA:570
Fanconi Anemia, Complementation Group G	Abnormal thumb morphology, Microphthalmia	OMIM:614082
Multiple Benign Circumferential Skin Creases On Limbs	Hypospadias, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Microcornea, Umbilical her...	ORPHA:2505
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly	Ureteral duplication, Micrognathia, Short metatarsal, Renal cyst, Narrow chest, Nephronophthisis,...	OMIM:266920
Fanconi Anemia, Complementation Group O	Death in infancy, Miscarriage, Proximal placement of thumb, Absent thumb, Short thumb, Hypoplasia...	OMIM:613390
Chromosome 6Pter-P24 Deletion Syndrome	Telangiectasia, Pigmentary retinopathy, Umbilical hernia, Axenfeld anomaly, Opacification of the ...	OMIM:612582
Chromosome 17Q12 Duplication Syndrome	Micrognathia, Peters anomaly, Microphthalmia, Broad thumb, Brachydactyly	OMIM:614526
Linear Skin Defects With Multiple Congenital Anomalies 2	Microphthalmia, Sandal gap, Nail dystrophy, Highly arched eyebrow	OMIM:300887
W Syndrome	Hypoplasia of the ulna, Pes planus, Radial bowing, Metatarsus adductus, Elbow dislocation, Abnorm...	ORPHA:2804
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Aortic regurgitation, Retinal detachment, Flexion contracture of finger, Optic disc pallor, Corne...	ORPHA:464311
Holt-Oram Syndrome	Abnormal clavicle morphology, Finger syndactyly, Down-sloping shoulders, Absent thumb, Abnormalit...	ORPHA:392
Bruck Syndrome	Wormian bones, Pterygium, Talipes equinovarus, Bowing of the long bones	ORPHA:2771
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Abnormal clavicle morphology, Absent eyebrow, Large posterior fontanelle, Hypospadias, Tarsal syn...	ORPHA:85199
Baraitser-Winter Cerebrofrontofacial Syndrome	Prominent metopic ridge, Hydroureter, Duplication of thumb phalanx, Highly arched eyebrow, Microg...	ORPHA:2995
Gillessen-Kaesbach-Nishimura Syndrome	Ulnar deviation of the hand, Micrognathia, Frontotemporal hypertrichosis, Wide anterior fontanel,...	OMIM:263210
Osteogenesis Imperfecta, Type Xxi	Barrel-shaped chest, Pes planus, Bowing of the legs, Coxa valga, Pectus excavatum, Coxa vara, Bel...	OMIM:619131
Arima Syndrome	Dilated fourth ventricle, Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Brainstem ...	OMIM:243910
Farber Disease	Corneal opacity, Flexion contracture, Macular degeneration, Abnormal conjunctiva morphology, Opac...	ORPHA:333
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Alopecia, Brittle hair, Micrognathia, Stage 5 chronic kidney disease, P...	OMIM:608612
Microcephalic Osteodysplastic Primordial Dwarfism, Type Iii	Hip contracture, Hypospadias, Talipes, Delayed cranial suture closure, Micrognathia, Hypoplastic ...	OMIM:210730
Shox-Related Short Stature	Micrognathia, Madelung deformity, Genu valgum, Short foot, Tibial bowing, Forearm undergrowth, Lo...	ORPHA:314795
Oculodentodigital Dysplasia	Abnormal clavicle morphology, Brittle hair, Micrognathia, Microcornea, Clinodactyly of the 5th fi...	ORPHA:2710
Spondylodysplastic Ehlers-Danlos Syndrome	Joint dislocation, Single transverse palmar crease, Micrognathia, Metaphyseal widening, Abnormal ...	ORPHA:536471
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Cataract, Sparse eyelashes, Camptodactyly of finger, Sparse eyebrow, Widow's peak, Finger clinoda...	ORPHA:306542
Keppen-Lubinsky Syndrome	Lack of facial subcutaneous fat, Abnormally large globe, Flexion contracture, Absence of subcutan...	OMIM:614098
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Low anterior hairline, Contracture of the proximal interphalangeal joint of the 4th finger, Ectop...	OMIM:618223
Nasopalpebral Lipoma-Coloboma Syndrome	Sparse eyebrow, Widow's peak, Clinodactyly of the 5th finger, Microphthalmia, Conjunctival hyperemia	OMIM:167730
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Overlapping toe, Unilateral renal agenesis, Renal hypoplasia, Hip dysplasia, Dysphagia, Prominent...	OMIM:618494
Acrodermatitis Enteropathica	Corneal erosion, Conjunctivitis	ORPHA:37
Thanatophoric Dysplasia Type 1	Bowing of the long bones, Short femur, Micromelia, Hypoplastic ilia, Abnormal sacroiliac joint mo...	ORPHA:1860
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Hypospadias, Sparse eyelashes, Pectus excavatum, Sparse eyebrow, Unilateral microphthalmos, Alope...	OMIM:618874
Trichothiodystrophy 4, Nonphotosensitive	Partial agenesis of the corpus callosum, Optic atrophy, Microcornea, Keratoconjunctivitis sicca, ...	OMIM:234050
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis	OMIM:613954
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Camptodactyly of finger, Supernumerary nipple, Tapered finger, Abnormal thorax morphology, Microp...	ORPHA:1236
Hyperostosis Cranialis Interna	Optic atrophy, Facial palsy, Ocular hypertension	OMIM:144755
Apert Syndrome	Hypertension, Corneal erosion, Optic atrophy	ORPHA:87
Aymé-Gripp Syndrome	Sparse scalp hair, Prominent metopic ridge, Cataract, Proteinuria, Rocker bottom foot, Craniosyno...	ORPHA:1272
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Microgn...	ORPHA:246
Oculodentodigital Dysplasia	Neurogenic bladder, Cataract, Dry hair, Slow-growing hair, Cubitus valgus, 4-5 finger syndactyly,...	OMIM:164200
Lacrimoauriculodentodigital Syndrome 1	Hypoplasia of the ulna, Broad hallux, Absent radius, Short thumb, Partial duplication of thumb ph...	OMIM:149730
Upper Limb Mesomelic Dysplasia	Hypoplasia of the ulna, Radial bowing, Ulnar deviation of finger	ORPHA:2497
Spondyloepimetaphyseal Dysplasia, X-Linked	Pectus carinatum, Long fibula, Short palm, Short phalanx of finger, Broad metacarpals, Genu varum...	OMIM:300106
Trisomy 17P	Hypoplasia of penis, Cataract, Urethral valve, Prominent metopic ridge, Talipes, Tapered finger, ...	ORPHA:261290
Spondyloepiphyseal Dysplasia Tarda	Abnormality of the tibial plateaux, Osteoarthritis of the distal interphalangeal joint, Limited e...	ORPHA:93284
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Ureteral stenosis, Hydroureter, Pectus excavatum, Hypercalciuria, Renal c...	OMIM:615398
Kindler Syndrome	Telangiectasia of the skin, Symblepharon, Phimosis, Corneal erosion, Urethral stenosis	OMIM:173650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Calcium nephrolithiasis, Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlarg...	OMIM:241530
Bartter Syndrome, Type 2, Antenatal	Hyperchloriduria, Polyuria, Renal salt wasting, Increased urinary potassium, Abnormally large glo...	OMIM:241200
Hallermann-Streiff Syndrome	Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, Abnormality of hair texture, Small hand...	ORPHA:2108
Occipital Horn Syndrome	Coxa vara, Humerus varus, Pectus carinatum, Coarse hair, Narrow chest, Short palm, Large iliac wi...	ORPHA:198
Keppen-Lubinsky Syndrome	Lipodystrophy, Abnormally large globe, Flexion contracture, Congenital generalized lipodystrophy,...	ORPHA:435628
Tangier Disease	Facial diplegia, Peripheral axonal neuropathy, Corneal opacity	ORPHA:31150
17Q12 Microduplication Syndrome	Finger syndactyly, Toe syndactyly, Synophrys, Self-injurious behavior, Microphthalmia	ORPHA:261272
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Encephalocele, Microphthalmia, Agenesis of cerebellar vermis, Agenesis of corpus callosum	ORPHA:228390
Skin Creases, Congenital Symmetric Circumferential, 1	Micrognathia, Pectus excavatum, Long fingers, Microcornea, Hypoplastic nipples, Microphthalmia	OMIM:156610
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Enlargement of the costochondra...	OMIM:600081
Wilson Disease	Kayser-Fleischer ring	ORPHA:905
Aprosencephaly And Cerebellar Dysgenesis	Absent mesencephalon, Poorly formed metencephalon, Aprosencephaly, Cerebellar dysplasia	OMIM:601374
Frontotemporal Dementia With Motor Neuron Disease	Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology	ORPHA:275872
Witteveen-Kolk Syndrome	Proximal placement of thumb, Anisocoria, Male urethral meatus stenosis, Microphallus, Short palm,...	OMIM:613406
Encephalocraniocutaneous Lipomatosis	Lipodystrophy, Corneal opacity, Multiple lipomas, Pulmonary arterial hypertension, Aortic valve s...	ORPHA:2396
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Myocardial infarction, Sudden cardiac ...	ORPHA:36426
Cdags Syndrome	Sparse scalp hair, Hypospadias, Sparse eyelashes, Sagittal craniosynostosis, Rectourethral fistul...	OMIM:603116
Fanconi Anemia, Complementation Group R	Chiari type I malformation, Microphthalmia, Hydrocephalus	OMIM:617244
Intellectual Developmental Disorder, Autosomal Recessive 65	Prominent metopic ridge, Hypospadias, Supernumerary nipple, Aggressive behavior, Contracture of t...	OMIM:618109
Chromosome 13Q33-Q34 Deletion Syndrome	Encephalocele, Prominent metopic ridge, Hyperactivity, Overlapping toe, Hypospadias, Single trans...	OMIM:619148
Monosomy 9Q22.3	Hyperactivity, Cataract, Pectus excavatum, Palmar pits, Plantar pits, Abnormal rib morphology, Um...	ORPHA:77301
Multisystemic Smooth Muscle Dysfunction Syndrome	Hypertension, Retinal infarction, Pulmonary arterial hypertension, Mydriasis	OMIM:613834
Osteogenesis Imperfecta, Type Viii	Barrel-shaped chest, Short metacarpal, Radial bowing, Femoral retroversion, Wide anterior fontane...	OMIM:610915
Hajdu-Cheney Syndrome	Thick eyebrow, Hypospadias, Short nail, Micrognathia, Absent frontal sinuses, Synophrys, Foot acr...	OMIM:102500
Vater/Vacterl Association	Syndactyly, Occipital encephalocele, Hypospadias, Spina bifida, Ectopic kidney, Absent radius, Sh...	OMIM:192350
Amyotrophic Lateral Sclerosis 21	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:606070
Ulbright-Hodes Syndrome	Abnormal penis morphology, Short humerus, Short metacarpal, Micrognathia, Humeroradial synostosis...	ORPHA:3404
Osteogenesis Imperfecta, Type Xxii	Wormian bones, Slender long bone, Bowing of the long bones, Pseudoarthrosis	OMIM:619795
Heart And Brain Malformation Syndrome	Prominent metopic ridge, Camptodactyly of finger, Wide anterior fontanel, Hand clenching, Microph...	OMIM:616920
Alacrima, Congenital, Autosomal Dominant	Punctate corneal epithelial erosions	OMIM:103420
Seckel Syndrome 2	Hypospadias, Ectopic kidney, Micrognathia, Clinodactyly of the 5th finger, Microphthalmia	OMIM:606744
Meckel Syndrome, Type 1	Dilated fourth ventricle, Occipital encephalocele, Large placenta, Hydrocephalus, Anencephaly, Ch...	OMIM:249000
Hereditary Pheochromocytoma-Paraganglioma	Cerebral hemorrhage, Congestive heart failure, Cranial nerve compression, Palpitations, Positive ...	ORPHA:29072
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Joint dislocation, Arthropathy, Genu recurvatum, Tibial bowing, Knee dislocation, Shoulder disloc...	OMIM:143095
Phace Association	Optic nerve hypoplasia, Optic atrophy, Horner syndrome, Developmental cataract, Cerebellar hypopl...	OMIM:606519
Mucopolysaccharidosis, Type Vi	Inguinal hernia, Tricuspid regurgitation, Corneal opacity, Flexion contracture, Dermatan sulfate ...	OMIM:253200
Hypercholesterolemia, Familial, 3	Corneal arcus	OMIM:603776
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome	Abnormal lower motor neuron morphology	ORPHA:2590
Osteogenesis Imperfecta, Type Xii	Hyperextensibility of the finger joints, Bowing of the legs, Micrognathia, Pectus carinatum, Worm...	OMIM:613849
Fanconi Anemia	Micrognathia, Abnormal femur morphology, Triphalangeal thumb, Clinodactyly of the 5th finger, Fin...	ORPHA:84
Spondyloepiphyseal Dysplasia Tarda, X-Linked	Opacification of the corneal stroma	OMIM:313400
Menkes Disease	Alopecia, Brittle hair, Metaphyseal spurs, Metaphyseal widening, Sparse hair, Death in childhood,...	OMIM:309400
Peroxisome Biogenesis Disorder 5A (Zellweger)	Persistent open anterior fontanelle, Single transverse palmar crease, Micrognathia, Renal cyst, D...	OMIM:614866
Short-Rib Thoracic Dysplasia 14 With Polydactyly	Cerebellar vermis hypoplasia, Hydrocephalus, Anencephaly, Hypoplasia of the brainstem, Molar toot...	OMIM:616546
Mucopolysaccharidosis Type 6	Hernia, Mucopolysacchariduria, Opacification of the corneal stroma	ORPHA:583
Hypothyroidism, Congenital, Nongoitrous, 6	Wormian bones, Congenital hip dislocation	OMIM:614450
Hydrolethalus	Anophthalmia, Hydrocephalus, Anencephaly, Microphthalmia, Agenesis of corpus callosum	ORPHA:2189
Hypercholesterolemia, Familial, 1	Corneal arcus	OMIM:143890
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Arachnodactyly, Rocker bottom foot, Wide anterior fontanel, Ulnar bowing, Humeroradial synostosis...	OMIM:207410
Pseudo-Torch Syndrome 1	Umbilical hernia, Renal insufficiency, Cataract, Opacification of the corneal stroma	OMIM:251290
Craniotubular Dysplasia, Ikegawa Type	Optic neuropathy, Phthisis bulbi, Optic atrophy, Optic nerve compression, Mydriasis	OMIM:619727
Postaxial Acrofacial Dysostosis	Syndactyly, Hypoplasia of the ulna, Congenital hip dislocation, Supernumerary nipple, Micrognathi...	OMIM:263750
Trichothiodystrophy 1, Photosensitive	Death in infancy, Cataract, Brittle hair, Trichoschisis, Fine hair, Microcornea, Keratoconjunctiv...	OMIM:601675
Osteopetrosis, Autosomal Recessive 5	Optic disc pallor, Facial palsy, Optic atrophy, Stillbirth, Mydriasis	OMIM:259720
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Postaxial polydactyly, Micrognathia, Lower limb asymmetry, Highly arched eyebrow, Low anterior ha...	ORPHA:404440
Neuroocular Syndrome	Hyperextensibility of the finger joints, Brittle hair, Genu recurvatum, Synophrys, Lens coloboma,...	OMIM:619539
Acrofrontofacionasal Dysostosis 2	Syndactyly, Broad hallux, Hypospadias, Wide anterior fontanel, Widow's peak, Hand polydactyly, Br...	OMIM:239710
Craniolenticulosutural Dysplasia	Pes planus, Brittle hair, Delayed closure of the anterior fontanelle, Wide anterior fontanel, Pun...	OMIM:607812
Mycophenolate Mofetil Embryopathy	Micrognathia, Ectopic kidney, Foot polydactyly, Chorioretinal coloboma, Short palm, Microphthalmi...	ORPHA:268249
Weill-Marchesani Syndrome 2	Iridodonesis, Short metacarpal, Cataract, Ectopia lentis, Lens luxation, Microspherophakia, Short...	OMIM:608328
47,Xyy Syndrome	Dysgenesis of the cerebellar vermis, Hydrocephalus, Abnormal brainstem morphology, Cerebellar dys...	ORPHA:8
Jacobsen Syndrome	Hypospadias, Micrognathia, Pectus excavatum, Missing ribs, Abnormal eyelash morphology, Microcorn...	OMIM:147791
Meckel Syndrome, Type 5	Occipital encephalocele, Bowing of the long bones, Postaxial hand polydactyly, Anencephaly, Renal...	OMIM:611561
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects	Microretrognathia, Joint dislocation, Aggressive behavior, Short clavicles, Short 4th metacarpal	OMIM:606220
Mucopolysaccharidosis, Type Vii	Corneal opacity, Heparan sulfate excretion in urine, Flexion contracture, Dermatan sulfate excret...	OMIM:253220
Kapur-Toriello Syndrome	Microphthalmia, Dysplastic corpus callosum, Iris coloboma	ORPHA:2328
Dyrk1A-Related Intellectual Disability Syndrome	Aortic regurgitation, Optic disc pallor, Multiple joint contractures, Corneal opacity, Hypospadia...	ORPHA:464306
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	11 pairs of ribs, Cataract, Craniosynostosis, Tapered finger, Micrognathia, Small hand, Renal hyp...	OMIM:620005
Trichothiodystrophy 3, Photosensitive	Brittle hair, Cataract, Developmental cataract, Microphthalmia, Tiger tail banding, Trichorrhexis...	OMIM:616395
Toxic Epidermal Necrolysis	Gastrointestinal hemorrhage, Renal insufficiency, Dysuria, Sudden cardiac death, Abnormality of t...	ORPHA:537
Meckel Syndrome, Type 2	Encephalocele, Meningocele, Anencephaly, Microphthalmia, Dandy-Walker malformation	OMIM:603194
Ollier Disease	Multiple enchondromatosis, Abnormal metaphysis morphology, Abnormal cartilage morphology, Micromelia	ORPHA:296
Kenny-Caffey Syndrome, Type 2	Delayed closure of the anterior fontanelle, Developmental cataract, Microphthalmia, Thickened cor...	OMIM:127000
Duplication Of The Pituitary Gland	Encephalocele, Agenesis of corpus callosum, Abnormal midbrain morphology	ORPHA:314621
Monosomy 18P	Microphthalmia, Hypertension, Holoprosencephaly	ORPHA:1598
Multiple Acyl-Coa Dehydrogenase Deficiency	Wide anterior fontanel, Glutaric aciduria, Generalized aminoaciduria, Renal cortical cysts, Devel...	OMIM:231680
Pycnodysostosis	Abnormal clavicle morphology, Persistent open anterior fontanelle, Wormian bones, Rhizomelia, Mic...	ORPHA:763
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Atypical scarring of skin, Dilated cardiomyopathy, Corneal erosion, Flexion contracture	ORPHA:89842
Osteogenesis Imperfecta, Type Xvi	Microretrognathia, Angulated humerus, Multiple rib fractures, Bowing of the long bones, Rhizomeli...	OMIM:616229
Facial Clefting, Oblique, 1	Microphthalmia	OMIM:600251
Xylt1-Cdg	Joint dislocation, Pes planus, Coxa valga, Synophrys, Flared metaphysis, Short long bone, Short f...	ORPHA:370930
Antley-Bixler Syndrome	Arachnodactyly, Camptodactyly of finger, Talipes, Craniosynostosis, Abnormal rib morphology, Femo...	ORPHA:83
Hypercholesterolemia, Familial, 2	Corneal arcus	OMIM:144010
Mucopolysaccharidosis Type 2, Severe Form	Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly...	ORPHA:217085
Dysosteosclerosis	Sclerotic scapulae, Micrognathia, Absent frontal sinuses, Delayed closure of the anterior fontane...	OMIM:224300
Distal Limb Deficiencies-Micrognathia Syndrome	Microretrognathia, Aplasia/Hypoplasia of the thumb, Renal insufficiency, Proteinuria, Abnormal mo...	ORPHA:1307
Ring Chromosome 10 Syndrome	Sandal gap, Tapered finger, Pectus excavatum, Micrognathia, Microphthalmia	ORPHA:1438
Acromesomelic Dysplasia 1	Short metacarpal, Radial bowing, Short nail, Broad metatarsal, Short toe, Hypoplasia of the radiu...	OMIM:602875
Koolen-De Vries Syndrome	Vertebral fusion, Prominent metopic ridge, Cataract, Hyperactivity, Impulsivity, Abnormality of h...	OMIM:610443
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia	Amyotrophic lateral sclerosis, Abnormal motor neuron morphology	ORPHA:52430
Alagille Syndrome 1	Hypoplasia of the ulna, Cataract, Band keratopathy, Multiple small medullary renal cysts, Abnorma...	OMIM:118450
Hajdu-Cheney Syndrome	Micrognathia, Absent frontal sinuses, Synophrys, Low anterior hairline, Pectus carinatum, Coarse ...	ORPHA:955
Fanconi Anemia, Complementation Group J	Microphthalmia, Short thumb	OMIM:609054
Cole-Carpenter Syndrome 2	Microretrognathia, Wide cranial sutures, Pectus excavatum, Thin ribs, Lambdoidal craniosynostosis...	OMIM:616294
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Pes planus, Single transverse palmar crease, Supernumerary nipple, Aggressive behavior, Sparse ey...	OMIM:620098
De Barsy Syndrome	Inguinal hernia, Cataract, Corneal opacity, Lipodystrophy, Umbilical hernia, Abnormal fundus fluo...	ORPHA:2962
Chromosome 13Q14 Deletion Syndrome	Overlapping toe, Single transverse palmar crease, Supernumerary nipple, Micrognathia, Hip disloca...	OMIM:613884
Mosaic Variegated Aneuploidy Syndrome	Aortic regurgitation, Multicystic kidney dysplasia, Cataract, Corneal opacity, Glaucoma, Micropht...	ORPHA:1052
Pallister-Hall Syndrome	Ectopic kidney, Renal cyst, Neonatal death, Micropenis, Distal shortening of limbs, Syndactyly, M...	OMIM:146510
Mucopolysaccharidosis Type 2, Attenuated Form	Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Corneal opacity, Camptodactyly...	ORPHA:217093
Aicardi Syndrome	Cerebellar vermis hypoplasia, Cataract, Spina bifida, Chorioretinal lacunae, Partial agenesis of ...	OMIM:304050
Teebi-Shaltout Syndrome	Syndactyly, Ureteral stenosis, Ulnar deviation of the hand, Rocker bottom foot, Single transverse...	OMIM:272950
Schimke Immunoosseous Dysplasia	Renal insufficiency, Proteinuria, Transient ischemic attack, Stage 5 chronic kidney disease, Neph...	OMIM:242900
Poland Syndrome	Aplasia/Hypoplasia of the thumb, Aplasia of the pectoralis major muscle, Pectus carinatum, Abnorm...	ORPHA:2911
Sweeney-Cox Syndrome	2-4 finger syndactyly, 2-5 finger cutaneous syndactyly, Prominent metopic ridge, Micrognathia, Lo...	OMIM:617746
Brachydactyly, Type E1	Short metacarpal, Short metatarsal, Straight clavicles, Short clavicles, Type E brachydactyly, Br...	OMIM:113300
Chime Syndrome	Corneal opacity, Aplastic clavicle, Aplasia/Hypoplasia of the phalanges of the hand, Hip dislocat...	ORPHA:3474
Rubinstein-Taybi Syndrome 1	Plantar crease between first and second toes, Single transverse palmar crease, Micrognathia, Low ...	OMIM:180849
Craniosynostosis 6	Delayed cranial suture closure, Craniosynostosis, Low anterior hairline, Right unilambdoid synost...	OMIM:616602
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:264700
Ablepharon Macrostomia Syndrome	Omphalocele, Hypoplasia of penis, Corneal opacity, Camptodactyly of finger, Corneal erosion, Umbi...	ORPHA:920
Papillorenal Syndrome	Multicystic kidney dysplasia, Cataract, Proteinuria, Lens luxation, Absence of renal corticomedul...	OMIM:120330
Cocaine Intoxication	Prolonged QT interval, Tachycardia, Proteinuria, Glomerulonephritis, Prolonged QRS complex, Myoca...	ORPHA:90068
Mucopolysaccharidosis Type 3	Inguinal hernia, Cataract, Corneal opacity, Heparan sulfate excretion in urine, Flexion contractu...	ORPHA:581
Lathosterolosis	Abnormal thoracic spine morphology, Hypoplasia of penis, Cataract, Toe syndactyly, Prominent meto...	ORPHA:46059
Parietal Foramina With Cleidocranial Dysplasia	Short clavicles, Widely patent fontanelles and sutures	OMIM:168550
Carpenter Syndrome 1	Omphalocele, Hydroureter, Optic atrophy, Microcornea, Opacification of the corneal stroma, Campto...	OMIM:201000
Lessel-Kreienkamp Syndrome	Clinodactyly of the 5th finger, Wide cranial sutures, Attention deficit hyperactivity disorder, A...	OMIM:619149
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Cataract, Micrognathia, Clinodactyly of the 5...	ORPHA:1587
Peroxisome Biogenesis Disorder 13A (Zellweger)	Dicarboxylic aciduria, Delayed closure of the anterior fontanelle, Micrognathia, Large fontanelle...	OMIM:614887
Multiple System Atrophy 1, Susceptibility To	Iris atrophy, Orthostatic hypotension, Urinary incontinence, Urinary urgency, Abnormal autonomic ...	OMIM:146500
Lateral Meningocele Syndrome	Prominent metopic ridge, Micrognathia, Pectus excavatum, Meningocele, Low posterior hairline, Wor...	ORPHA:2789
Hypocalcemic Vitamin D-Dependent Rickets	Enlargement of the ankles, Wide cranial sutures, Irregular, rachitic-like metaphyses, Subperioste...	ORPHA:289157
Hyperparathyroidism, Transient Neonatal	Wide cranial sutures, Short femur, Metaphyseal spurs, Unilateral renal agenesis, Undulate ribs, F...	OMIM:618188
Fryns Syndrome	Microretrognathia, Ureteral duplication, Hypospadias, Rocker bottom foot, Proximal placement of t...	OMIM:229850
Sheldon-Hall Syndrome	Ulnar deviation of the wrist, Tarsal synostosis, Bilateral single transverse palmar creases, Micr...	ORPHA:1147
Laryngotracheoesophageal Cleft Type 4	Abnormal lower motor neuron morphology	ORPHA:93941
Autosomal Recessive Cutis Laxa Type 1	Cataract, Wide anterior fontanel, Hip dislocation, Pyelonephritis, Urethral diverticulum, Joint s...	ORPHA:90349
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Urinary incontinence, Abnormal pupil morphology, Calcaneovalgus deformity, Pectus carinatum, Micr...	ORPHA:261552
Spondylometaphyseal Dysplasia, Algerian Type	Metaphyseal dysplasia, Bowed humerus, Anterior rib cupping, Short tubular bones of the hand, Tibi...	OMIM:184253
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Atrophic scars, Corneal opacity, Scarring, Enamel hypoplasia	ORPHA:79396
Myoclonic-Astatic Epilepsy	Syndactyly, Hyperactivity, Frontal balding, Attention deficit hyperactivity disorder, Microphthalmia	ORPHA:1942
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1	Abnormal upper motor neuron morphology	OMIM:221770
Neurofibromatosis Type 1	Abnormality of retinal pigmentation, Cataract, Corneal opacity, Glaucoma, Multiple lipomas, Hyper...	ORPHA:636
Schinzel-Giedion Midface Retraction Syndrome	Increased density of long bones, Single transverse palmar crease, Tibial bowing, Hypoplasia of fi...	OMIM:269150
Pycnodysostosis	Persistent open anterior fontanelle, Aplastic clavicle, Micrognathia, Absent frontal sinuses, Ost...	OMIM:265800
Osteogenesis Imperfecta	Micromelia, Micrognathia, Abnormal tibia morphology, Osteoarthritis, Abnormal femur morphology, P...	ORPHA:666
Mucopolysaccharidosis Type 2	Papilledema, Inguinal hernia, Abnormality of retinal pigmentation, Corneal opacity, Abnormal fove...	ORPHA:580
Microgastria-Limb Reduction Defect Syndrome	Abnormal morphology of the radius, Multicystic kidney dysplasia, Anophthalmia, Aplastic clavicle,...	ORPHA:2538
Apert Syndrome	Limited elbow movement, Delayed epiphyseal ossification, Pectus carinatum, Cutaneous finger synda...	OMIM:101200
Familial Thyroid Dyshormonogenesis	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:95716
Craniosynostosis 2	Bicoronal synostosis, Craniosynostosis, Metopic synostosis, Triphalangeal thumb, Wormian bones, U...	OMIM:604757
Mohr Syndrome	Syndactyly, Wormian bones, Micrognathia, Pectus excavatum, Preaxial hand polydactyly, Postaxial h...	OMIM:252100
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Anuria, Megacystis, Pyelonephritis, Bidirectional shunt, Elevated pulmonary artery pressure, Mydr...	OMIM:619351
Vitamin D-Dependent Rickets, Type 2A	Bulging epiphyses, Enlargement of the ankles, Bowing of the legs, Subperiosteal bone resorption, ...	OMIM:277440
Alpha-Mannosidosis, Infantile Form	Aortic regurgitation, Optic disc pallor, Cataract, Corneal opacity, Oligosacchariduria, Mitral re...	ORPHA:309282
Dyggve-Melchior-Clausen Disease	Corneal opacity	ORPHA:239
Developmental And Epileptic Encephalopathy 1	Microphthalmia, Micropenis, Dysphagia	OMIM:308350
Osteoporosis-Pseudoglioma Syndrome	Iris atrophy, Cataract, Phthisis bulbi, Retinal calcification, Exudative retinopathy, Vitreoretin...	OMIM:259770
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia, Agenesis ...	OMIM:264480
Joubert Syndrome 5	Occipital encephalocele, Agenesis of cerebellar vermis, Aplasia/Hypoplasia of the cerebellar verm...	OMIM:610188
Brittle Cornea Syndrome 1	Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness	OMIM:229200
Kenny-Caffey Syndrome, Type 1	Long clavicles, Delayed closure of the anterior fontanelle, Thin clavicles, Small hand, Thin ribs...	OMIM:244460
Myhre Syndrome	Vertebral fusion, Thick eyebrow, Cataract, Overlapping toe, Short toe, 2-3 toe syndactyly, Fine h...	OMIM:139210
Japanese Encephalitis	Decreased motor nerve conduction velocity, Abnormal substantia nigra morphology, Facial palsy, Ab...	ORPHA:79139
Oculoectodermal Syndrome	Transient ischemic attack, Chorioretinal atrophy, Microcornea, Astigmatism, Opacification of the ...	OMIM:600268
Dysostosis, Stanescu Type	Bowing of the long bones, Persistent open anterior fontanelle, Wormian bones, Micromelia, Pectus ...	ORPHA:1798
Baraitser-Winter Syndrome 2	Microphthalmia, Agenesis of corpus callosum	OMIM:614583
Stevenson-Carey Syndrome	Microphthalmia, Hip dysplasia, Joint contracture of the hand, Camptodactyly	OMIM:611961
Kindler Epidermolysis Bullosa	Urethral stricture, Corneal opacity, Abnormal dental enamel morphology, Camptodactyly of finger, ...	ORPHA:2908
Frontofacionasal Dysplasia	Cataract, Microcornea, Cranium bifidum occultum, Microphthalmia, Iris coloboma	OMIM:229400
Braddock-Carey Syndrome 2	Microphthalmia, Clinodactyly	OMIM:619981
Osteogenesis Imperfecta, Type Xviii	Bowing of the long bones, Micrognathia, Femoral bowing, Thin ribs, Long eyelashes, Wormian bones,...	OMIM:617952
Enlarged Parietal Foramina	Occipital encephalocele, Craniosynostosis, Myelomeningocele, Short clavicles, Broad thumb	ORPHA:60015
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Prominent metopic ridge, Corneal opacity, Micrognathia, Aplasia of the distal phalanx of the 5th ...	OMIM:608670
Neu-Laxova Syndrome 1	Micromelia, Micrognathia, Calcaneovalgus deformity, Neonatal death, Pterygium, Finger syndactyly,...	OMIM:256520
Neurocardiofaciodigital Syndrome	Vesicoureteral reflux, Optic disc pallor, Cataract, Sclerocornea	OMIM:619869
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	Optic nerve hypoplasia, Broad proximal phalanges of the hand, Abnormal hair morphology, Bilateral...	OMIM:607597
Subaortic Stenosis-Short Stature Syndrome	Bilateral single transverse palmar creases, Microphthalmia, Synostosis of carpal bones, Micrognathia	ORPHA:3191
Eec Syndrome	Hypospadias, Abnormal dental enamel morphology, Keratitis, Corneal erosion, Urethral atresia, Ves...	ORPHA:1896
Linear Nevus Sebaceus Syndrome	Aplasia/Hypoplasia of the cerebellum, Microphthalmia, Iris coloboma, Dandy-Walker malformation	ORPHA:2612
Chromosome 1Q41-Q42 Deletion Syndrome	Cerebellar hypoplasia, Microphthalmia, Holoprosencephaly	OMIM:612530
Incontinentia Pigmenti	Hypoplasia of the fovea, Alopecia, Cataract, Supernumerary nipple, Keratitis, Uveitis, Fine hair,...	OMIM:308300
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Telangiectasia of the skin, Lip telangiectasia, Opacification ...	ORPHA:79280
Solitary Median Maxillary Central Incisor	Microphthalmia, Anophthalmia, Holoprosencephaly	OMIM:147250
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Astigmatism, Optic nerve dysplasia	OMIM:617296
Skin Creases, Congenital Symmetric Circumferential, 2	Pes planus, Hypospadias, Tapered finger, Micrognathia, Long fingers, Pectus excavatum, Synophrys,...	OMIM:616734
Diamond-Blackfan Anemia 1	11 pairs of ribs, Micrognathia, Absent thumb, Short thumb, Hypoplastic ilia, Partial duplication ...	OMIM:105650
Aicardi-Goutières Syndrome	Multiple joint contractures, Lipoatrophy, Raynaud phenomenon, Developmental glaucoma, Glaucoma, H...	ORPHA:51
45,X/46,Xy Mixed Gonadal Dysgenesis	Prolonged QT interval, Tachycardia, Hypospadias, Epispadias, Developmental glaucoma, Horseshoe ki...	ORPHA:1772
Mandibuloacral Dysplasia With Type A Lipodystrophy	Sparse scalp hair, Alopecia, Down-sloping shoulders, Micrognathia, Coxa valga, Elbow flexion cont...	OMIM:248370
Fanconi Anemia, Complementation Group S	Proximal placement of thumb, Low anterior hairline, Long eyelashes, Sparse hair, Microphthalmia, ...	OMIM:617883
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Thick eyebrow, Overlapping toe, Pectus carinatum, Attention deficit hyperactivity disorder, Facia...	OMIM:619383
Autosomal Dominant Kenny-Caffey Syndrome	Stenosis of the medullary cavity of the long bones, Bilateral microphthalmos, Developmental catar...	ORPHA:93325
Mowat-Wilson Syndrome	Cataract, Hypospadias, Aganglionic megacolon, Microcornea, Ectopia pupillae, Chorioretinal colobo...	OMIM:235730
Atelis Syndrome 2	Pes planus, Single transverse palmar crease, Micrognathia, Developmental cataract, Attention defi...	OMIM:620185
Occipital Horn Syndrome	Short humerus, Persistent open anterior fontanelle, Pes planus, Pelvic bone exostoses, Broad clav...	OMIM:304150
Joubert Syndrome 17	Molar tooth sign on MRI	OMIM:614615
Holoprosencephaly	Encephalocele, Anophthalmia, Hydrocephalus, Optic atrophy, Spinal dysraphism, Branchial anomaly, ...	ORPHA:2162
Orofaciodigital Syndrome Vi	Molar tooth sign on MRI, Occipital meningocele, Cerebellar vermis hypoplasia, Agenesis of corpus ...	OMIM:277170
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2	Hallux valgus, Hyperextensibility of the finger joints, Pes planus, Hip dislocation, Bladder dive...	OMIM:617821
Tbck-Related Intellectual Disability Syndrome	Neurogenic bladder, Corneal opacity, Pulmonic stenosis	ORPHA:488632
Pituitary Apoplexy	Hypertension, Hypotension, Mydriasis	ORPHA:95613
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia, Agenesis of corpus callosum, Cerebellar hypoplasia	OMIM:617914
Townes-Brocks Syndrome	Hypoplasia of penis, Ectopic kidney, Triphalangeal thumb, Chorioretinal coloboma, Vesicoureteral ...	ORPHA:857
Lenz-Majewski Hyperostotic Dwarfism	Hyperextensibility of the finger joints, Syndactyly, Hypospadias, Micrognathia, Aplasia/Hypoplasi...	OMIM:151050
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Aortic regurgitation, Inguinal hernia, Transient ischemic attack, Subarachnoid hemorrhage, Hypovo...	ORPHA:91387
Infantile-Onset X-Linked Spinal Muscular Atrophy	Degeneration of anterior horn cells, Abnormal anterior horn cell morphology	ORPHA:1145
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Micrognathia, Small hand, Short foot, Short palm, Microphthalmia, Micropenis	OMIM:241410
1P36 Deletion Syndrome	Hypoplasia of penis, Renal cyst, Clinodactyly of the 5th finger, Abnormal repetitive mannerisms, ...	ORPHA:1606
Marshall-Smith Syndrome	Thoracic scoliosis, Brittle hair, Large sternal ossification centers, Synophrys, Distal widening ...	OMIM:602535
Holoprosencephaly 2	Alobar holoprosencephaly, Cerebellar hypoplasia, Holoprosencephaly, Chorioretinal coloboma, Micro...	OMIM:157170
Restrictive Dermopathy 1	Ureteral duplication, Micrognathia, Overtubulated long bones, Neonatal death, Hypospadias, Absent...	OMIM:275210
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1	Joint dislocation, Genu recurvatum, Single transverse palmar crease, Micrognathia, Pectus carinat...	OMIM:130070
Osteogenesis Imperfecta, Type I	Otosclerosis, Femoral bowing, Hip dysplasia, Finger joint hypermobility, Wormian bones	OMIM:166200
Joubert Syndrome 38	Molar tooth sign on MRI, Inferior cerebellar vermis hypoplasia, Cerebellar vermis hypoplasia	OMIM:619476
Peters Plus Syndrome	Ureteral duplication, Multicystic kidney dysplasia, Cataract, Corneal opacity, Hypospadias, Ingui...	ORPHA:709
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma	OMIM:231005
Saethre-Chotzen Syndrome	Hallux valgus, Finger syndactyly, Proximal radio-ulnar synostosis, Bilateral single transverse pa...	ORPHA:794
Neurooculorenal Syndrome	Iris atrophy, Cerebellar vermis hypoplasia, Aqueductal stenosis, Hypoplasia of the pons, Hydrocep...	OMIM:620305
Ehlers-Danlos Syndrome, Dermatosparaxis Type	Delayed closure of the anterior fontanelle, Micrognathia, Wide anterior fontanel, Short toe, Recu...	OMIM:225410
Diamond-Blackfan Anemia	Developmental glaucoma, Hypospadias, Horseshoe kidney, Developmental cataract	ORPHA:124
Galloway-Mowat Syndrome 3	Diffuse mesangial sclerosis, Arachnodactyly, Proteinuria, Micrognathia, Pectus excavatum, Hip dis...	OMIM:617729
Mucopolysaccharidosis, Type Iva	Inguinal hernia, Grayish enamel, Opacification of the corneal stroma, Chondroitin sulfate excreti...	OMIM:253000
Charge Syndrome	Anophthalmia, Facial palsy, Aqueductal stenosis, Optic atrophy, Holoprosencephaly, Chorioretinal ...	ORPHA:138
Alg9-Cdg	Microretrognathia, Prominent metopic ridge, Ulnar deviation of the hand, Rhizomelia, Ureteral hyp...	ORPHA:79328
Ayme-Gripp Syndrome	Broad eyebrow, Sparse scalp hair, Tapered finger, Pectus excavatum, Developmental cataract, Radio...	OMIM:601088
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Cerebellar atrophy, Optic disc pallor, Optic nerve hypoplasia, Olivopontocerebellar hypoplasia, H...	ORPHA:468631
Limb Body Wall Complex	Cutaneous finger syndactyly, Aplasia of the proximal phalanges of the hand, Spina bifida occulta,...	ORPHA:2369
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Micrognathia, Pectus excavatum, Wide anterior fontanel, Renal cortical cysts, Deep plantar crease...	OMIM:618548
Momo Syndrome	Bilateral microphthalmos, Femoral bowing, Large hands, Short sternum, Chorioretinal coloboma, Con...	ORPHA:2563
Infantile Nephropathic Cystinosis	Hyperphosphaturia, Corneal crystals, Renal tubular dysfunction, Glycosuria, Abnormal cornea morph...	ORPHA:411629
Renpenning Syndrome 1	Cataract, Hypospadias, Brittle hair, Micrognathia, Pectus excavatum, Phimosis, Renal hypoplasia, ...	OMIM:309500
Ohdo Syndrome, X-Linked	Ulnar deviation of the hand, Overlapping toe, Micrognathia, Sparse eyebrow, Short thumb, High ant...	OMIM:300895
Cystinosis, Nephropathic	Renal insufficiency, Hyperphosphaturia, Proteinuria, Polyuria, Retinal pigment epithelial mottlin...	OMIM:219800
Cole-Carpenter Syndrome	Crumpled long bones, Bowing of the long bones, Micrognathia, Abnormal rib morphology, Wormian bon...	ORPHA:2050
Trichothiodystrophy	Joint dislocation, Sparse scalp hair, Brittle hair, Craniosynostosis, Hypoplasia of mandible rela...	ORPHA:33364
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Single transverse palmar crease, Micromelia, Micrognathia, Delayed epiphyseal ossification, Preax...	OMIM:210710
Alternating Hemiplegia Of Childhood	Cardiac conduction abnormality, Cardiomyopathy, Abnormal autonomic nervous system physiology, Abn...	ORPHA:2131
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Single transverse palmar crease, Micrognathia, Synophrys, Clinodactyly of the 5th finger, Promine...	OMIM:612474
Microphthalmia, Syndromic 2	Anophthalmia, Broad hallux, Sandal gap, Hypospadias, 2-3 toe cutaneous syndactyly, Phthisis bulbi...	OMIM:300166
Cutis Laxa, Autosomal Recessive, Type Iib	Bowing of the long bones, Congenital hip dislocation, Pectus excavatum, Large fontanelles, Wormia...	OMIM:612940
Autosomal Dominant Cutis Laxa	Aortic regurgitation, Inguinal hernia, Corneal opacity, Unilateral renal agenesis, Congestive hea...	ORPHA:90348
Scorpion Envenomation	Bundle branch block, Tachycardia, Ketonuria, Cardiac conduction abnormality, Congestive heart fai...	ORPHA:466677
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Omphalocele, Inguinal hernia, Hydroureter, Corneal opacity, Abnormal dental enamel morphology, Ca...	ORPHA:2273
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthropathy, Long clavicles, Pectus excavatum, Clubbing, Large fontanelles, Osteolytic defects of...	OMIM:259100
Opitz-Kaveggia Syndrome	Syndactyly, Broad hallux, Hypospadias, Delayed closure of the anterior fontanelle, Micrognathia, ...	OMIM:305450
Ivic Syndrome	Aplastic clavicle, Preaxial hand polydactyly, Short thumb, Hypoplasia of the radius, Radioulnar s...	ORPHA:2307
Cornelia De Lange Syndrome	Hypoplasia of penis, Micromelia, Micrognathia, Proximal placement of thumb, Synophrys, Low anteri...	ORPHA:199
Orofaciodigital Syndrome Xvi	Molar tooth sign on MRI	OMIM:617563
Gaucher Disease	Death in infancy, Corneal opacity, Proteinuria, Cherry red spot of the macula, Hematuria, Pulmona...	ORPHA:355
Wrinkly Skin Syndrome	Microretrognathia, Pes planus, Scapular winging, Congenital hip dislocation, Short nail, Delayed ...	OMIM:278250
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Curly hair, Cataract, Hypospadias, Wormian bones, Highly arched eyebrow, Micrognathia, Thick hair...	ORPHA:444077
9Q31.1Q31.3 Microdeletion Syndrome	Thick hair, Highly arched eyebrow, Tapered finger, Small hand, Renovascular hypertension, Short c...	ORPHA:401923
Schinzel-Giedion Syndrome	Abnormal clavicle morphology, Micrognathia, Renal cyst, Tibial bowing, Broad ribs, Micropenis, Hy...	ORPHA:798
Silver-Russell Syndrome	Sandal gap, Hypospadias, Micrognathia, Lower limb asymmetry, Upper limb asymmetry, Abnormal appen...	ORPHA:813
Microphthalmia, Syndromic 11	Microphthalmia, Agenesis of corpus callosum	OMIM:614402
Williams Syndrome	Posterior embryotoxon, Flat cornea, Cataract, Corneal opacity, Sudden cardiac death, Myocardial i...	ORPHA:904
Immunodeficiency 43	Hypoplasia of the ulna, Radial bowing	OMIM:241600
Mandibuloacral Dysplasia Progeroid Syndrome	Sandal gap, Proteinuria, Delayed cranial suture closure, Decreased fibular diameter, Micrognathia...	OMIM:619127
Tetraamelia Syndrome 1	Cataract, Micrognathia, Urethral atresia, Hypoplastic pelvis, Microphthalmia, Tetraamelia	OMIM:273395
Meckel Syndrome 14	Microretrognathia, Syndactyly, Bowing of the long bones, Occipital encephalocele, Talipes, Postax...	OMIM:619879
8Q24.3 Microdeletion Syndrome	Branchial cyst, Thoracic scoliosis, Congenital hip dislocation, Single transverse palmar crease, ...	ORPHA:508488
Trisomy 8P	Short fourth metatarsal, Short fifth metatarsal, Overlapping toe, Single transverse palmar crease...	ORPHA:264450
Neonatal Marfan Syndrome	Iridodonesis, Tricuspid regurgitation, Lipoatrophy, Ectopia lentis, Flexion contracture, Heart mu...	ORPHA:284979
Cockayne Syndrome A	Reduced subcutaneous adipose tissue, Hip contracture, Renal insufficiency, Cataract, Proteinuria,...	OMIM:216400
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Hypoplasia of penis, Cataract, Micrognathia, Absent eyelashes, ...	ORPHA:861
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Renal hypoplasia, Mic...	OMIM:603467
Robin Sequence With Cleft Mandible And Limb Anomalies	Proximal placement of thumb, Micrognathia, Aplasia of the epiglottis, Clinodactyly of the 5th fin...	OMIM:268305
Floating-Harbor Syndrome	Enlarged joints, Renal cyst, Nephrocalcinosis, Humeral pseudarthrosis, Compulsive behaviors, Abno...	ORPHA:2044
Aicardi Syndrome	Block vertebrae, Missing ribs, Rib fusion, Small hand, Hip dysplasia, Supernumerary ribs, Bifid r...	ORPHA:50
Xeroderma Pigmentosum	Conjunctival telangiectasia, Cataract, Telangiectasia of the skin, Keratitis, Optic atrophy, Tela...	ORPHA:910
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Urethral stricture, Renal insufficiency, Foot joint contracture, Glomerulonephritis, Corneal eros...	ORPHA:79408
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Cerebellar vermis hypoplasia, Partial agenesis of the corpus callosum, O...	OMIM:615948
Ciliary Dyskinesia, Primary, 1	Communicating hydrocephalus, Abnormal cornea morphology	OMIM:244400
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Parietal Foramina 1	Encephalocele, Wormian bones	OMIM:168500
Smith-Lemli-Opitz Syndrome	Hypoplasia of penis, Sclerocornea, Micrognathia, Proximal placement of thumb, Talipes calcaneoval...	ORPHA:818
Amyotrophic Lateral Sclerosis 2, Juvenile	Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis, Abnormal upper motor neuro...	OMIM:205100
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Abnormal penis morphology, Anterior uveitis, Symblepharon, Dysuria, Keratitis, Corneal erosion, R...	ORPHA:95455
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Delayed cranial suture closure, Micrognathia	ORPHA:1129
Hunter-Macdonald Syndrome	Epiphyseal dysplasia, Hypospadias, Metatarsus adductus, Cubitus valgus, Premature osteoarthritis,...	OMIM:611962
Marbach-Rustad Progeroid Syndrome	Wormian bones, Femur fracture, Short clavicles, Micrognathia	OMIM:619322
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Hypoplasia of the pons, Optic atrophy, Peters anomaly, Microphthalmia	OMIM:616975
Floating-Harbor Syndrome	Short middle phalanx of the 2nd finger, Glandular hypospadias, Nephrocalcinosis, Clinodactyly of ...	OMIM:136140
Short-Rib Thoracic Dysplasia 21 Without Polydactyly	Molar tooth sign on MRI, Lateral ventricle dilatation, Dysgenesis of the cerebellar vermis	OMIM:619479
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Anophthalmia, Microphthalmia, Cataract, Iris coloboma	ORPHA:2250
Wolf-Hirschhorn Syndrome	Hypospadias, Congenital diaphragmatic hernia, Sclerocornea, Optic atrophy, Hernia, Megalocornea, ...	ORPHA:280
Blepharophimosis, Ptosis, And Epicanthus Inversus	Microcornea, Microphthalmia	OMIM:110100
Wilson Disease	Decreased nerve conduction velocity, Kayser-Fleischer ring, Face of the giant panda sign	OMIM:277900
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Recurrent shoulder dislocation, Down-sloping shoulders, Short clavicles, Finger joint contracture	OMIM:212112
1P31P32 Microdeletion Syndrome	Intraventricular hemorrhage, Ocular hypertension	ORPHA:401986
Larsen Syndrome	Corneal opacity	OMIM:150250
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Multicystic kidney dysplasia, Optic nerve dysplasia, Retinal dysplasia, Opacification of the corn...	OMIM:615287
Osteogenesis Imperfecta, Type Iv	Wormian bones, Otosclerosis, Femoral bowing present at birth, straightening with time	OMIM:166220
Tarp Syndrome	Finger syndactyly, Rocker bottom foot, Postaxial polydactyly, Micrognathia, Pectus excavatum, Sin...	ORPHA:2886
Nestor-Guillermo Progeria Syndrome	Microretrognathia, Sparse scalp hair, Wide cranial sutures, Alopecia, Sparse eyelashes, Limited e...	OMIM:614008
Microphthalmia, Syndromic 6	Finger syndactyly, Thumb contracture, Toe syndactyly, Anophthalmia, Single transverse palmar crea...	OMIM:607932
Oculogastrointestinal Neurodevelopmental Syndrome	Bilateral microphthalmos, Hirsutism, Unilateral microphthalmos, Horseshoe kidney	OMIM:619318
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Hydrocephalus, Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia, Umbilical...	ORPHA:2166
Peters-Plus Syndrome	Ureteral duplication, Single transverse palmar crease, Proximal placement of thumb, Micrognathia,...	OMIM:261540
Ogden Syndrome	Microretrognathia, Broad hallux, Delayed cranial suture closure, Fine hair, Aplasia/Hypoplasia of...	ORPHA:276432
Frontonasal Dysplasia 2	Encephalocele, Agenesis of cerebellar vermis, Cerebellar vermis hypoplasia, Microphthalmia	OMIM:613451
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Microretrognathia, Joint dislocation, Arachnodactyly, Pectus excavatum, Large fontanelles, Microc...	OMIM:601776
Juvenile Nephropathic Cystinosis	Renal insufficiency, Proteinuria, Chronic kidney disease, Abnormal urine potassium concentration,...	ORPHA:411634
Fraser Syndrome 1	Anophthalmia, Corneal opacity, Hypospadias, Bilateral microphthalmos, Renal hypoplasia, Micropenis	OMIM:219000
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome	Lower-limb joint contracture, Increased axial length of the globe	ORPHA:513456
Fontaine Progeroid Syndrome	Micrognathia, Synophrys, Low anterior hairline, Coarse hair, Neonatal death, Micropenis, Syndacty...	OMIM:612289
Restrictive Dermopathy 2	Microretrognathia, Overtubulated long bones, Short clavicles	OMIM:619793
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal penis morphology, Finger syndactyly, Broad hallux phalanx, Encephalocele, Hypospadias, P...	ORPHA:2211
Vascular Ehlers-Danlos Syndrome	Keratoconus, Joint dislocation, Alopecia, Congenital hip dislocation, Hypospadias, Abnormality of...	ORPHA:286
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Papilledema, Corneal opacity, Spontaneous, recurrent epistaxis, Pulmonary arterial hypertension	ORPHA:2072
Tenorio Syndrome	Delayed cranial suture closure, Enuresis, Keratoconjunctivitis sicca, Thick eyebrow, Hypertrichosis	OMIM:616260
Microphthalmia, Isolated 8	Microphthalmia, Anophthalmia, Optic nerve hypoplasia, True anophthalmia	OMIM:615113
Chromosome 1P36 Deletion Syndrome, Distal	Ectopic kidney, Synophrys, Clinodactyly of the 5th finger, Self-mutilation, Oppositional defiant ...	OMIM:607872
Orofaciodigital Syndrome Type 6	Molar tooth sign on MRI, Cerebellar vermis hypoplasia	ORPHA:2754
Lenz-Majewski Hyperostotic Dwarfism	Abnormal penis morphology, Finger syndactyly, Hypospadias, Aplastic clavicle, Abnormal metacarpal...	ORPHA:2658
Hereditary Acrokeratotic Poikiloderma	Telangiectasia of the skin, Camptodactyly of finger, Abnormal preputium morphology, Abnormality o...	ORPHA:2907
Osteogenesis Imperfecta, Type Xi	Wormian bones, Protrusio acetabuli, Coxa vara	OMIM:610968
Osteopetrosis, Autosomal Recessive 8	Unilateral microphthalmos, Optic atrophy, Facial palsy	OMIM:615085
Machado-Joseph Disease Type 3	Abnormal lower motor neuron morphology, Degeneration of anterior horn cells, Spinocerebellar trac...	ORPHA:276244
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Thoracic scoliosis, Absent nipple, Broad hallux, Single transverse palmar crease,...	OMIM:620186
Ogden Syndrome	Large posterior fontanelle, Congenital hip dislocation, Micrognathia, Clinodactyly of the 5th fin...	OMIM:300855
Stuve-Wiedemann Syndrome 1	Death in infancy, Elbow flexion contracture, Knee flexion contracture, Pulmonary arterial hyperte...	OMIM:601559
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Micromelia, Micrognathia, Abnormal finger morphology, Short palm, Large iliac wing, Sparse hair, ...	ORPHA:2636
Trisomy 10P	Thumb contracture, Wide cranial sutures, Abnormality of the hand, Micrognathia, Abnormal foot mor...	ORPHA:171929
Branchiooculofacial Syndrome	Cataract, Anophthalmia, Hypospadias, Proximal placement of thumb, Micrognathia, Single transverse...	OMIM:113620
Frontonasal Dysplasia 3	Microphthalmia	OMIM:613456
Spastic Paraplegia 9A, Autosomal Dominant	Abnormal upper motor neuron morphology	OMIM:601162
Menkes Disease	Bowing of the long bones, Hypopigmentation of hair, Tarsal synostosis, Micrognathia, Pectus excav...	ORPHA:565
Camurati-Engelmann Disease	Abnormal morphology of the radius, Metaphyseal dysplasia, Pes planus, Abnormal morphology of ulna...	ORPHA:1328
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Cataract, Hypospadias, Synophrys, Microphthalmia, Micropenis	OMIM:603457
Familial Osteodysplasia, Anderson Type	Aplastic clavicle, Missing ribs, Elbow dislocation, Abnormal rib morphology, Bifid femur, Aplasia...	ORPHA:2769
D-Bifunctional Protein Deficiency	Delayed cranial suture closure, Micrognathia, Pectus excavatum, Split hand, Large fontanelles, Re...	OMIM:261515
Isolated Thyroid-Stimulating Hormone Deficiency	Large posterior fontanelle, Delayed proximal femoral epiphyseal ossification, Abnormal epiphysis ...	ORPHA:90674
Holoprosencephaly 1	Alobar holoprosencephaly, Cerebellar hypoplasia, Microphthalmia, Ethmocephaly, Agenesis of corpus...	OMIM:236100
Geroderma Osteodysplasticum	Hyperextensibility of the finger joints, Tibial bowing, Femoral bowing, Camptodactyly, Wormian bones	OMIM:231070
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Prominent metopic ridge, Hyperactivity, Broad hallux, Optic nerve hypoplasia, Postaxial polydacty...	ORPHA:457284
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia, Hypertrophic cardiomyopathy	OMIM:619053
Deafness, X-Linked 7	Unilateral microphthalmos	OMIM:301018
Degcags Syndrome	Micrognathia, Oral-pharyngeal dysphagia, Synophrys, Bilateral renal hypoplasia, Low anterior hair...	OMIM:619488
Lateral Meningocele Syndrome	Vertebral fusion, Neurogenic bladder, Micrognathia, Pectus excavatum, Meningocele, Coarse hair, W...	OMIM:130720
Chilton-Okur-Chung Neurodevelopmental Syndrome	Short fourth metatarsal, Septo-optic dysplasia, Single transverse palmar crease, Micrognathia, Sy...	OMIM:619841
Fetal Alcohol Syndrome	Microphthalmia, Generalized hirsutism, Micrognathia	ORPHA:1915
Holoprosencephaly 9	Anophthalmia, Optic nerve hypoplasia, Hydrocephalus, Partial agenesis of the corpus callosum, Hol...	OMIM:610829
Lathosterolosis	Cataract, Opacification of the corneal stroma, Horseshoe kidney	OMIM:607330
Immunodeficiency 49	Wormian bones, Umbilical hernia, Hirsutism, Micrognathia	OMIM:617237
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Melanonychia, Anophthalmia, Cataract, Chorioretinal dysplasia, Abnormal eyelash morphology, Abnor...	ORPHA:2526
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Urinary incontinence, Calcaneovalgus deformity, Pectus carinatum, Vesicoureteral reflux, Webbed p...	ORPHA:261537
Coffin-Siris Syndrome 12	Sparse scalp hair, Thick eyebrow, Hypospadias, Highly arched eyebrow, Micrognathia, Pectus excava...	OMIM:619325
Wiedemann-Rautenstrauch Syndrome	Reduced subcutaneous adipose tissue, Cataract, Corneal opacity, Hypospadias, Increased subcutaneo...	ORPHA:3455
Fraser Syndrome 2	Unilateral renal agenesis, Short thorax, Low anterior hairline, Renal hypoplasia, Cutaneous synda...	OMIM:617666
Monosomy 9P	Hypospadias, Proximal placement of thumb, Micrognathia, Abnormality of the tarsal bones, Highly a...	ORPHA:261112
Pallister-Killian Syndrome	Congenital hip dislocation, Edema of the dorsum of feet, Single transverse palmar crease, Microgn...	OMIM:601803
Cole-Carpenter Syndrome 1	Wormian bones, Coronal craniosynostosis, Orbital craniosynostosis, Micrognathia	OMIM:112240
Progressive Non-Fluent Aphasia	Abnormal lower motor neuron morphology	ORPHA:100070
Hennekam-Beemer Syndrome	Camptodactyly of finger, Lower limb asymmetry, Micrognathia, Clinodactyly of the 5th finger, Dela...	ORPHA:2135
Short-Rib Thoracic Dysplasia 15 With Polydactyly	Postaxial polydactyly, Postaxial hand polydactyly, Aplasia of the epiglottis, Horseshoe kidney, C...	OMIM:617088
Pallister-Hall Syndrome	Ectopic kidney, Micropenis, Paroxysmal bursts of laughter, Microretrognathia, Mesoaxial polydacty...	ORPHA:672
Osteogenesis Imperfecta, Type Xx	Highly arched eyebrow, Asymmetry of the thorax, Sparse hair, Narrow chest, Wormian bones, Sparse ...	OMIM:618644
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Joint dislocation, Pes planus, Elbow dislocation, Abnormal foot morphology, Osteoart...	ORPHA:285
Chronic Graft Versus Host Disease	Fasciitis, Phimosis, Urinary bladder inflammation, Flexion contracture, Hematuria, Keratoconjunct...	ORPHA:99921
Hydrolethalus Syndrome 1	Hypospadias, Micrognathia, Preaxial hand polydactyly, Postaxial hand polydactyly, Duplication of ...	OMIM:236680
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type	Increased urinary type 1 collagen N-terminal telopeptide level, Ocular hypertension	ORPHA:93315
Mowat-Wilson Syndrome	Urinary incontinence, Calcaneovalgus deformity, Pectus carinatum, Vesicoureteral reflux, Webbed p...	ORPHA:2152
Plague	Tachycardia, Hematemesis, Hypotension, Arrhythmia, Conjunctival hyperemia, Mydriasis	ORPHA:707
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Large posterior fontanelle, Optic nerve hypoplasia, Delayed proximal femoral epiphyseal ossificat...	ORPHA:226307
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia, Heart murmur	ORPHA:2728
Microphthalmia, Syndromic 9	Anophthalmia, Micrognathia, Bilateral microphthalmos, Renal hypoplasia, Horseshoe kidney, Neonata...	OMIM:601186
Matthew-Wood Syndrome	Anophthalmia, Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Microphthalmia	ORPHA:2470
Orofaciodigital Syndrome Type 14	Molar tooth sign on MRI, Partial agenesis of the corpus callosum, Dilated fourth ventricle, Dandy...	ORPHA:434179
Fraser Syndrome	Encephalocele, Finger syndactyly, Death in infancy, Anophthalmia, Toe syndactyly, Hypoplasia of p...	ORPHA:2052
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome	Abnormal autonomic nervous system physiology, Abnormal midbrain morphology	ORPHA:293987
Digeorge Syndrome	Renal insufficiency, Inguinal hernia, Femoral hernia, Unilateral renal agenesis, Sclerocornea, Um...	OMIM:188400
Wrinkly Skin Syndrome	Pes planus, Congenital hip dislocation, Delayed closure of the anterior fontanelle, Pectus excava...	ORPHA:2834
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Craniofacial Microsomia 1	Occipital encephalocele, Multicystic kidney dysplasia, Anophthalmia, Block vertebrae, Micrognathi...	OMIM:164210
Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	ORPHA:2717
Neurodegeneration With Brain Iron Accumulation 4	Abnormal lower motor neuron morphology	OMIM:614298
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Delayed cranial suture closure	OMIM:613038
Manitoba Oculotrichoanal Syndrome	Microphthalmia, Anophthalmia	OMIM:248450
Adams-Oliver Syndrome 1	Encephalocele, Hypertension, Pulmonary arterial hypertension, Pulmonic stenosis, Microphthalmia, ...	OMIM:100300
Medulloblastoma	Delayed cranial suture closure	ORPHA:616
Isolated Arrhinia	Microphthalmia	ORPHA:1134
Treacher Collins Syndrome 1	Preauricular hair displacement, Bilateral microphthalmos, Sparse lower eyelashes, Micrognathia	OMIM:154500
Nail-Patella-Like Renal Disease	Renal insufficiency, Microscopic hematuria, Proteinuria	ORPHA:2613

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 Lmx1b

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 Lmx1b.

No publications found that use IMPC mice or data for Lmx1b.

Order Mouse and ES Cells

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MGI Allele	Allele Type	Produced
Lmx1b^{tm2a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Lmx1b^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Lmx1b^{tm2e(KOMP)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

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