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Gene: Lmx1b MGI:1100513

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Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
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.

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Microphthalmia, Anterior synechiae of the anterior chamber, Ocular anterio... OMIM:269400
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy
Cataract, Glaucoma, Chorioretinal coloboma, Corneal scarring, Retinal detachment, Macular atrophy... OMIM:212550
Glaucoma 3, Primary Congenital, E
Glaucoma, Megalocornea, Corneal stromal edema, Ocular hypertension, Increased cup-to-disc ratio OMIM:617272
Anterior Segment Dysgenesis 5
Glaucoma, Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Microphthalmia, Hy... OMIM:604229
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Glaucoma, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal D... ORPHA:98973
Glaucoma, Primary Closed-Angle
Angle closure glaucoma, Ocular hypertension, Increased cup-to-disc ratio, Anterior synechiae of t... OMIM:618880
Corneal Dystrophy, Posterior Polymorphous, 1
Glaucoma, Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning o... OMIM:122000
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Megalocornea
Cataract, Glaucoma, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodone... OMIM:309300
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Norrie Disease
Retinal fold, Cataract, Optic atrophy, Hypoplasia of the iris, Opacification of the corneal strom... OMIM:310600
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Glaucoma, Microspherophakia, Ectopia lentis, Megalocornea, Iridodonesis, Buphthalmos, Deep anteri... OMIM:251750
Macrophthalmia, Colobomatous, With Microcornea
Microcornea, Increased axial length of the globe, Chorioretinal coloboma, Optic disc coloboma, Ma... OMIM:602499
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Retinal fold, Cataract, Microcornea, Retinal nonattachment, Posterior synechiae of the anterior c... OMIM:221900
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Herpes Simplex Virus Stromal Keratitis
Corneal perforation, Keratitis, Conjunctival hyperemia, Corneal stromal edema, Open angle glaucom... ORPHA:137599
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Bilateral Acute Depigmentation Of The Iris
Abnormal corneal endothelium morphology, Pigment deposition in the trabecular meshwork, Abnormal ... ORPHA:69736
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Microphthalmia, Aplasia/H... ORPHA:83461
Neovascular Glaucoma
Glaucoma, Abnormal optic nerve morphology, Rubeosis iridis, Retinal vein occlusion, Uveal ectropi... ORPHA:94058
Corneal Dystrophy, Lattice Type I
Recurrent corneal erosions, Lattice corneal dystrophy OMIM:122200
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Microphthalmia, Isolated 6
Retinal fold, Microcornea, Ocular hypertension, Microphthalmia OMIM:613517
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Microphthalmia/Coloboma 10
Chorioretinal coloboma, Anophthalmia, Microcoria, Microphthalmia, Iris coloboma, Optic pit OMIM:616428
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Vitreoretinal Degeneration, Snowflake Type
Corneal guttata, Cataract, Retinal dots, Optically empty vitreous, Retinal detachment, Snowflake ... OMIM:193230
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Fuchs Heterochromic Iridocyclitis
Cataract, Chorioretinal scar, Glaucoma, Corneal keratic precipitates, Epiretinal membrane, Retina... ORPHA:263479
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Persistent Hyperplastic Primary Vitreous
Retinal fold, Cataract, Microcornea, Hyaloid vascular remnant and retrolental mass, Angle closure... ORPHA:91495
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Limbal Stem Cell Deficiency
Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal scarring, Cornea... ORPHA:171673
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Galactosialidosis
Cherry red spot of the macula, Corneal opacity ORPHA:351
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Ectopia pupillae, Inguinal hernia, Corneal dystrophy OMIM:609141
Craniofacial Anomalies And Anterior Segment Dysgenesis Syndrome
Band keratopathy, Hypoplasia of the iris, Ocular anterior segment dysgenesis, Anterior synechiae ... OMIM:614195
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Glaucoma, Abnormal lens morphology, Phakodonesis, Retinal... OMIM:177650
Neurotrophic Keratopathy
Abnormal fifth cranial nerve morphology, Corneal perforation, Corneal scarring, Astigmatism, Recu... ORPHA:137596
Cataract 50 With Or Without Glaucoma
Cataract, Glaucoma, Persistent pupillary membrane, Retinal detachment OMIM:620253
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microphthalmia, Microcornea, Corneal opacity ORPHA:2432
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Corneal Dystrophy, Lattice Type Iiia
Corneal erosion, Lattice corneal dystrophy OMIM:608471
Hereditary Liability to Pressure Palsies (HNPP)
Abnormal motor neuron morphology DECIPHER:31
Corneal dystrophy, lisch epithelial
Corneal dystrophy OMIM:300778
Ulnar Hemimelia
Abnormal upper limb bone morphology, Hypoplastic scapulae, Short forearm, Radial bowing, Abnormal... ORPHA:93320
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy, Macular dyst... OMIM:217800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Cataract, Optic atrophy, Glaucoma, Chorioretinal coloboma, Hematuria, Posterior embryotoxon, Reti... ORPHA:1473
Pelvis-Shoulder Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Hypoplastic acetabulae, Clino... OMIM:169550
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Optic nerve ... OMIM:617319
Iridocorneal Endothelial Syndrome
Glaucoma, Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, A... ORPHA:64734
Cataract-Microcornea Syndrome
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Fibrochondrogenesis 1
Thin ribs, Hypoplastic scapulae, Small hand, Joint contracture of the hand, Broad long bones, Meg... OMIM:228520
Dermoids Of Cornea
Corneal opacity OMIM:304730
Glaucoma 3, Primary Congenital, A
Buphthalmos, Ocular hypertension, Late onset congenital glaucoma OMIM:231300
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Blepharoptosis, Myopia, And Ectopia Lentis
Increased axial length of the globe, Ectopia lentis OMIM:110150
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Mic... OMIM:610256
Spinal Muscular Atrophy, Segmental
Abnormal anterior horn cell morphology OMIM:183020
Nail-Patella Syndrome
Keratoconus, Patellar aplasia, Hematuria, Talipes equinovarus, Disproportionate prominence of the... OMIM:161200
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Birdshot Chorioretinopathy
Cataract, Choroidal neovascularization, Retinal thinning, Epiretinal membrane, Attenuation of ret... ORPHA:179
Mucous Membrane Pemphigoid
Atypical scarring of skin, Corneal opacity ORPHA:46486
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Phacoanaphylactic Uveitis
Posterior synechiae of the anterior chamber, Hyphema, Corneal keratic precipitates, Pseudophakia,... ORPHA:209959
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia, Ocular hypertension, Iris col... OMIM:610023
Anterior Segment Dysgenesis 3
Glaucoma, Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld a... OMIM:601631
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1
Cerebellar vermis hypoplasia, Cardiomyopathy, Hypoplasia of the brainstem, Cerebellar dysplasia, ... OMIM:613155
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Glaucoma, Ectopia lentis, Retinal vascular tortuosity, ... OMIM:106210
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy, Iris cyst OMIM:620086
Corneal Dystrophy, Congenital Stromal
Glaucoma, Corneal erosion, Increased corneal thickness, Corneal dystrophy, Band-shaped corneal dy... OMIM:610048
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Macular hypoplasia, Retinal detach... OMIM:610202
Léri-Weill Dyschondrosteosis
Short tibia, Radial bowing, Elbow dislocation, Abnormal tibia morphology, Genu valgum, Patellar a... ORPHA:240
Insensitivity To Pain, Congenital, With Anhidrosis
Keratitis, Postural hypotension with compensatory tachycardia, Corneal scarring, Recurrent cornea... OMIM:256800
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11
Cataract, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar h... OMIM:615181
Insulinomatosis And Diabetes Mellitus
Developmental glaucoma, Insulinoma, Multiple pancreatic beta-cell adenomas, Developmental cataract OMIM:147630
Gelatinous Drop-Like Corneal Dystrophy
Conjunctival amyloidosis, Corneal neovascularization, Central opacification of the cornea, Subepi... ORPHA:98957
Weill-Marchesani Syndrome 4
Glaucoma, Ectopia lentis, Posterior synechiae of the anterior chamber, Phakodonesis, Iridodonesis... OMIM:613195
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Persistent pupillary membrane, Aplasia/Hypoplasia of the iris, Corneal opacity ORPHA:1067
Morquio Syndrome C
Corneal opacity OMIM:252300
Fibular Aplasia Or Hypoplasia, Femoral Bowing And Poly-, Syn-, And Oligodactyly
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Radial bowing, Clinodactyly, Hy... OMIM:228930
Intermediate Uveitis
Cataract, Macular edema, Band keratopathy, Posterior synechiae of the anterior chamber, Vasculiti... ORPHA:279914
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2
Optic atrophy, Cataract, Microcornea, Cerebellar atrophy, Hypoplasia of the pons, Cerebellar hypo... OMIM:616171
Nail-Patella Syndrome
Equinovarus deformity, Abnormal tibia morphology, Talipes calcaneovalgus, Contracture of the dist... ORPHA:2614
Microcoria, Congenital
Glaucoma, Hypoplasia of the iris dilator muscle, Microcoria, Ocular hypertension OMIM:156600
Stickler Syndrome Type 2
Cataract, Retinopathy, Abnormal vitreous humor morphology, Retinal detachment, Corneal opacity ORPHA:90654
Oculoauricular Syndrome
Posterior synechiae of the anterior chamber, Chorioretinal coloboma, Cone/cone-rod dystrophy, Pos... OMIM:612109
Marsili Syndrome
Corneal scarring OMIM:147430
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar c... OMIM:613153
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Neuropathy, Hereditary Sensory And Autonomic, Type Viii
Corneal scarring, Corneal ulceration OMIM:616488
Cousin Syndrome
Hypoplastic scapulae, Joint contracture of the hand, Hypoplastic iliac wing, Fibular aplasia, Dis... OMIM:260660
Epithelial Recurrent Erosion Dystrophy
Corneal erosion OMIM:122400
Winchester Syndrome
Corneal opacity OMIM:277950
Gómez-López-Hernández Syndrome
Cerebellar vermis hypoplasia, Abnormal brainstem morphology, Abnormal cerebellum morphology, Hydr... ORPHA:1532
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Tibial Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the tibia, Popliteal pterygium, Finger syndactyly, Ectrodactyly, Preaxial h... ORPHA:3329
Charcot-Marie-Tooth Disease Type 1B
Peripheral dysmyelination, Decreased nerve conduction velocity, Abnormal pupil morphology, Periph... ORPHA:101082
Muscle-Eye-Brain Disease With Bilateral Multicystic Leucodystrophy
Cataract, Buphthalmos, Retinal dystrophy ORPHA:370997
Tetralogy Of Fallot And Glaucoma
Developmental glaucoma OMIM:187501
Bilateral Striopallidodentate Calcinosis
Corneal opacity ORPHA:1980
Developmental Malformations-Deafness-Dystonia Syndrome
Cataract, Hypoplastic scapulae, Micromelia, Death in early adulthood, Femoral retroversion, Dysph... ORPHA:79107
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9
Cataract, Glaucoma, Microphthalmia, Buphthalmos, Retinal dystrophy OMIM:616538
Juvenile Glaucoma
Abnormality iris morphology, Abnormal optic nerve morphology, Retinal vein occlusion, Retinal art... ORPHA:98977
Charcot-Marie-Tooth Disease Type 4B2
Cataract, Optic atrophy, Glaucoma, Decreased distal sensory nerve action potential, Buphthalmos, ... ORPHA:99956
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Glaucoma, Peters anomaly, Congenital contracture, Death in infancy, Microphthalmia, Bup... OMIM:613150
Autosomal Recessive Spastic Paraplegia Type 25
Developmental glaucoma, Abnormality of peripheral nerve conduction, Developmental cataract ORPHA:101005
Thrombocytopenia-Absent Radius Syndrome
Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ... OMIM:274000
Microphthalmia, Isolated 2
Opacification of the corneal stroma, Microphthalmia OMIM:610093
Glaucoma 3, Primary Infantile, B
Primary congenital glaucoma OMIM:600975
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Pelvis-Shoulder Dysplasia
Fifth finger distal phalanx clinodactyly, Micrognathia, Bell-shaped thorax, Talipes equinovarus, ... ORPHA:2839
Cataract 9, Multiple Types
Cataract, Microcornea, Glaucoma, Progressive cataract, Developmental cataract, Microphthalmia, Ir... OMIM:604219
Idiopathic Panuveitis
Cataract, Choroidal neovascularization, Posterior synechiae of the anterior chamber, Epiretinal m... ORPHA:280921
Traboulsi Syndrome
Cataract, Homocystinuria, Ectopia lentis, Ocular hypertension, Phakodonesis, Microphthalmia, Iris... OMIM:601552
Dystonia-Deafness Syndrome 1
Cataract, Hypoplastic scapulae, Pseudobulbar paralysis, Femoral retroversion, Dysphagia OMIM:607371
Severe Early-Childhood-Onset Retinal Dystrophy
Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Posterior synechiae of t... ORPHA:364055
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Iris hypopigmentation, Microcornea, Iris coloboma, Anterior synechiae of the anterior chamber ORPHA:3214
Primary Lateral Sclerosis, Adult, 1
Abnormal upper motor neuron morphology OMIM:611637
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Keratitis, Elbow flexion contracture, Corneal scarring, Knee flexion contracture, Recurrent corne... OMIM:148210
Brittle Cornea Syndrome
Glaucoma, Corneal scarring, Hernia, Pulmonic stenosis, Decreased corneal thickness, Retinal detac... ORPHA:90354
Distal Deletion 6P
Glaucoma, Hypoplasia of the iris, Ectopia pupillae, Posterior embryotoxon, Abnormal anterior cham... ORPHA:96125
Dyggve-Melchior-Clausen Disease
Hypoplastic scapulae, Hypoplasia of the odontoid process, Hypoplastic iliac wing, Genu valgum, Ba... OMIM:223800
Ischiocoxopodopatellar Syndrome With Or Without Pulmonary Arterial Hypertension
Sandal gap, Patellar hypoplasia, Hypoplasia of the lesser trochanter, Micrognathia, Patellar apla... OMIM:147891
Acromesomelic Dysplasia 2A
Short tibia, Stillbirth, Aplasia/Hypoplasia involving the metacarpal bones, Distal tibiofibular s... OMIM:200700
Acheiropody
Lower limb peromelia, Absent forearm, Short tibia, Absent radius, Fibular aplasia, Absent hand, C... OMIM:200500
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Lissencephaly 8
Optic atrophy, Cataract, Occipital encephalocele, Hypoplasia of the brainstem, Cerebellar hypopla... OMIM:617255
Weill-Marchesani Syndrome 3
Aortic valve stenosis, Microspherophakia, Ectopia lentis, Ocular hypertension, Shallow anterior c... OMIM:614819
Retinal Dystrophy And Iris Coloboma With Or Without Cataract
Iris coloboma, Retinal atrophy, Posterior synechiae of the anterior chamber, Developmental cataract OMIM:616722
Microphthalmia, Isolated, With Cataract 1
Cataract, Microphthalmia OMIM:156850
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Sympathetic Ophthalmia
Posterior uveitis, Cataract, Macular edema, Anterior chamber cells, Posterior synechiae of the an... ORPHA:79098
Microphthalmia/Coloboma 4
Microcornea, Microphthalmia OMIM:251505
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Death in infancy, Corneal opacity, Developme... OMIM:618815
Uveal Melanoma
Inferior lens subluxation, Mydriasis, Iris melanoma, Ciliary body melanoma, Abnormal fundus morph... ORPHA:39044
Coxopodopatellar Syndrome
Abnormal pelvic girdle bone morphology, Abnormal epiphysis morphology, Aplasia/Hypoplasia of the ... ORPHA:1509
Schneckenbecken Dysplasia
Hypoplastic scapulae, Narrow chest, Thoracic hypoplasia, Stillbirth, Umbilical hernia, Advanced t... OMIM:269250
Neuropathy, Hereditary Sensory And Autonomic, Type Iii
Recurrent corneal erosions, Hypertension, Glomerular sclerosis, Orthostatic hypotension, Decrease... OMIM:223900
Congenital Muscular Dystrophy With Cerebellar Involvement
Optic atrophy, Cataract, Abnormality iris morphology, Hypoplasia of the pons, Occipital encephalo... ORPHA:370959
Cornea Plana 2, Autosomal Recessive
Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic... OMIM:217300
Agel Amyloidosis
Cataract, Glaucoma, Cardiomyopathy, Stage 5 chronic kidney disease, Orthostatic hypotension due t... ORPHA:85448
Kleeblattschaedel
Recurrent corneal erosions OMIM:148800
Pierson Syndrome
Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Hypoplasia of the ciliary body... OMIM:609049
Roberts Syndrome
Synostosis of carpal bones, Finger syndactyly, Micrognathia, Patellar aplasia, Bilateral single t... ORPHA:3103
Thanatophoric Dysplasia, Type Ii
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Micromelia, Flared metaphysis, ... OMIM:187601
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cataract, Optic atrophy, Glaucoma, Peters anomaly, Congenital contracture, Megalocornea, Retinal ... OMIM:236670
Tyrosinemia, Type Ii
4-Hydroxyphenylpyruvic aciduria, Elevated urine N-acetyltyrosine level, Herpetiform corneal ulcer... OMIM:276600
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12
Cataract, Abnormally large globe, Retinal degeneration, Microphthalmia, Flexion contracture OMIM:615249
Optic Atrophy 3, Autosomal Dominant
Cataract, Optic disc pallor, Optic atrophy OMIM:165300
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Joubert Syndrome 13
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:614173
Microphthalmia/Coloboma 5
Bilateral microphthalmos, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Holoprosencephaly... OMIM:611638
Spinocerebellar Degeneration With Macular Corneal Dystrophy, Congenital Cataracts, And Myopia
Corneal dystrophy, Developmental cataract OMIM:271320
Acheiropodia
Abnormal epiphysis morphology, Fibular aplasia, Absent hand, Short humerus, Upper limb phocomelia... ORPHA:931
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Ocular... OMIM:107250
Amyotrophic Lateral Sclerosis 22 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:616208
Van Den Ende-Gupta Syndrome
Thin ribs, Hypoplastic scapulae, Long metacarpals, Joint contracture of the hand, Long hallux, Mi... OMIM:600920
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis, Epiretinal membrane OMIM:148200
Charcot-Marie-Tooth syndrome type 1A (CMT1A)
Abnormal motor neuron morphology DECIPHER:29
Late-Onset Retinal Degeneration
Choroidal neovascularization, Macular degeneration, Multifocal subretinal deposits, Abnormal ante... ORPHA:67042
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Vesicoureteral ... OMIM:120200
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Retinal detachment, Iris transillumination defect, Pe... OMIM:225200
Spastic Ataxia-Corneal Dystrophy Syndrome
Optic atrophy, Corneal dystrophy, Developmental cataract ORPHA:2572
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
Foveal Hypoplasia 2
Foveal hyperpigmentation, Astigmatism, Optic nerve misrouting, Axenfeld anomaly, Hypoplasia of th... OMIM:609218
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormal auditory evoked potentials, Abnormally prominent line of Schwalbe, Rieger anomaly, Agene... OMIM:109120
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Occipital encephalocele, Cerebellar malformation, Hydrocephalus, Ocular anterior segment dysgenes... ORPHA:324416
Microcephaly, Short Stature, And Limb Abnormalities
Patellar hypoplasia, 11 pairs of ribs, Patellar aplasia, Radioulnar synostosis, Brachydactyly, Hy... OMIM:617604
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii
Ivory epiphyses, Hypoplastic scapulae, Sparse scalp hair, Radial bowing, Hypoplastic iliac wing, ... OMIM:210720
Platyspondylic Dysplasia, Torrance Type
Short distal phalanx of finger, Hypoplastic scapulae, Metaphyseal cupping, Narrow chest, Micromel... ORPHA:85166
Xfe Progeroid Syndrome
Optic atrophy, Corneal scarring, Attenuation of retinal blood vessels, Renal insufficiency, Absen... OMIM:610965
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Micr... OMIM:278730
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Cleidocranial Dysplasia
Hypoplastic scapulae, Genu valgum, Micrognathia, Large fontanelles, Abnormal metacarpal morpholog... ORPHA:1452
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Rieger anomaly, Nephrolithiasis, Primary congenital glaucoma, Retinal detachment, Buphthalmos ORPHA:521445
Microphthalmia/Coloboma 7
Inferior chorioretinal coloboma, Iris coloboma, Microphthalmia OMIM:614497
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Cataract, Atrophic scars, Corneal scarring, Enamel hypoplasia, Conjunctivitis, Flexion contracture OMIM:226600
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Encephalocraniocutaneous Lipomatosis
Hypoplasia of the iris, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Microp... OMIM:613001
Amyotrophic Lateral Sclerosis, Susceptibility To, 25
Amyotrophic lateral sclerosis OMIM:617921
Meier-Gorlin Syndrome 1
Thin ribs, Small hand, Joint contracture of the hand, Elbow dislocation, Cutaneous finger syndact... OMIM:224690
Corneal Dystrophy, Meesmann, 2
Recurrent corneal erosions OMIM:618767
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Woolly Hair
Cataract, Abnormal pupil morphology, Abnormal retinal morphology ORPHA:170
Spondyloperipheral Dysplasia-Short Ulna Syndrome
Aplasia/hypoplasia involving bones of the extremities, Cataract, Arthralgia of the hip, Broad hal... ORPHA:1856
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Abnormal macular morphology, Ocular albinism, Abnormal pupil morphology, A... ORPHA:54
Axenfeld-Rieger Syndrome, Type 3
Glaucoma, Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, ... OMIM:602482
Aniridia, Partial, With Unilateral Renal Agenesis And Psychomotor Retardation
Unilateral renal agenesis, Aniridia, Developmental glaucoma OMIM:206750
Microphthalmia/Coloboma 3
Cataract, Iris coloboma, Microphthalmia OMIM:610092
Khan-Khan-Katsanis Syndrome
Glaucoma, Pigmentary retinopathy, Renal hypoplasia, Peters anomaly, Tricuspid regurgitation, Corn... OMIM:618460
Alexander Disease
Death in adolescence, Microcoria, Death in childhood, Death in infancy OMIM:203450
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture OMIM:160565
Short-Rib Thoracic Dysplasia 7 With Or Without Polydactyly
Hypoplastic scapulae, Bowing of the long bones, Flat acetabular roof, Sparse hair, Hypospadias, P... OMIM:614091
Phocomelia, Schinzel Type
Finger aplasia, Radial bowing, Ectrodactyly, Aplasia/Hypoplasia involving the pelvis, Abnormal ti... ORPHA:2879
Neuronopathy, Distal Hereditary Motor, Autosomal Dominant 14
Abnormal lower motor neuron morphology OMIM:607641
9Q33.3Q34.11 Microdeletion Syndrome
Highly arched eyebrow, Patellar dislocation, Patellar hypoplasia, Patellar aplasia, Astigmatism, ... ORPHA:495818
Coats Disease
Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:190
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Retinal degeneration, Corneal opacity OMIM:252650
Thanatophoric Dysplasia, Type I
Small abnormally formed scapulae, Hypoplastic ilia, Narrow chest, Thoracic hypoplasia, Flared met... OMIM:187600
Anterior Segment Dysgenesis 4
Iris hypopigmentation, Hypoplastic iris stroma OMIM:137600
Intellectual Disability-Balding-Patella Luxation-Acromicria Syndrome
Frontal balding, Short toe, Patellar hypoplasia, Thoracic kyphosis, Pes cavus, Self-mutilation, 2... ORPHA:3041
Aniridia And Absent Patella
Cataract, Aniridia, Aplasia/Hypoplasia of the patella OMIM:106220
Laurin-Sandrow Syndrome
Patellar aplasia, Broad foot, Hand polydactyly, Triphalangeal thumb, Absent tibia, Absent radius,... OMIM:135750
Pelviscapular Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Congenital hip dislocation, Abnormality of the joint spac... ORPHA:93333
Mosaic Trisomy 8
Narrow chest, Deep plantar creases, Abnormal rib morphology, Camptodactyly of finger, Micrognathi... ORPHA:96061
Wagner Vitreoretinopathy
Peripheral tractional retinal detachment, Cataract, Optic atrophy, Exudative vitreoretinopathy, G... OMIM:143200
Ulna And Fibula, Absence Of, With Severe Limb Deficiency
Radial bowing, Aplasia/Hypoplasia of the pubic bone, Fibular aplasia, Humeroradial synostosis, Ba... OMIM:276820
Smith-Mccort Dysplasia 1
Hypoplastic scapulae, Hypoplastic acetabulae, Hypoplasia of the odontoid process, Irregular epiph... OMIM:607326
Achondrogenesis, Type Ia
Hypoplastic scapulae, Abnormal femoral metaphysis morphology, Severe limb shortening, Bell-shaped... OMIM:200600
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Short Stature, Auditory Canal Atresia, Mandibular Hypoplasia, And Skeletal Abnormalities
Hypoplastic scapulae, Rhizomelia, Flared metaphysis, Delayed ossification of pubic rami, Microgna... OMIM:602471
Mucolipidosis Ii Alpha/Beta
Bullet-shaped phalanges of the hand, Hypoplastic scapulae, Hypoplasia of the odontoid process, My... OMIM:252500
Microphthalmia, Syndromic 16
Sclerocornea, Anophthalmia, Microphthalmia OMIM:611038
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Talipes calcaneovalgus, Micrognathia, Dysplastic patella, Patellar aplasia... OMIM:265000
Palmoplantar Carcinoma, Multiple Self-Healing
Corneal neovascularization, Limbal stem cell deficiency OMIM:615225
Lymphedema-Distichiasis Syndrome
Cellulitis, Recurrent corneal erosions, Arrhythmia, Microphthalmia, Conjunctivitis, Corneal ulcer... OMIM:153400
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome
Hypoplastic scapulae, Narrow chest, Rhizomelia, Micromelia, Femoral bowing, Micrognathia, Dumbbel... ORPHA:440354
Fibrochondrogenesis
Hypoplastic scapulae, Narrow chest, Micromelia, Abnormal diaphysis morphology, Camptodactyly of f... ORPHA:2021
Ulnar-Mammary Syndrome
Hypoplastic scapulae, Short 5th toe, Absent radius, Short 5th finger, Breast hypoplasia, Postaxia... OMIM:181450
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Cockayne Syndrome Type 3
Lentiglobus, Peripheral axonal neuropathy, Microphthalmia, Optic disc pallor, Corneal ulceration,... ORPHA:90324
Leg, Absence Deformity Of, With Congenital Cataract
Progressive cataract, Developmental cataract, Optic nerve dysplasia OMIM:246000
Alport Syndrome
Focal segmental glomerulosclerosis, Anterior lenticonus, Posterior subcapsular cataract, Macular ... ORPHA:63
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Keratoconjunctivitis sicca, Corneal neovascularization, Uveitis OMIM:617388
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development
Cataract, Chorioretinal coloboma, Hematuria, Microphthalmia, Iris coloboma OMIM:120433
Coach Syndrome 2
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Agenesis of corpus callosum, Hydrocephalus,... OMIM:619111
2Q24 Microdeletion Syndrome
Cataract, Bullet-shaped distal phalanx of the hallux, Toe syndactyly, Abnormality iris morphology... ORPHA:1617
Diaphragmatic Defect-Limb Deficiency-Skull Defect Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Abnormal scapula morphology, Abnormal femur ... ORPHA:2141
Gillespie Syndrome
Cerebellar hypoplasia, Aniridia, Cerebellar atrophy, Hypoplasia of the iris OMIM:206700
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia
Shallow acetabular fossae, Broad thumb, Toe syndactyly, Hypoplastic iliac wing, Micrognathia, Tal... OMIM:609945
Camptodactyly Syndrome, Guadalajara Type 2
Short 5th toe, Patellar hypoplasia, Camptodactyly of finger, Talipes equinovarus, Short 3rd toe, ... ORPHA:1326
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome
Cataract, Slender finger, Narrow chest, Hemiatrophy of upper limb, Oligosacchariduria, Micrognath... ORPHA:163649
Pigmentary Disorder, Reticulate, With Systemic Manifestations, X-Linked
Urethral stricture, Corneal scarring OMIM:301220
Joubert Syndrome 9
Cataract, Encephalocele, Astigmatism, Molar tooth sign on MRI OMIM:612285
Baller-Gerold Syndrome
Lambdoidal craniosynostosis, Carpal synostosis, Micrognathia, Large fontanelles, Patellar aplasia... OMIM:218600
Aniridia-Absent Patella Syndrome
Cataract, Aniridia, Aplasia/Hypoplasia of the patella ORPHA:1069
Duane-Radial Ray Syndrome
Aplasia of metacarpal bones, Pes planus, Small thenar eminence, Absent radius, Microphthalmia, Ir... OMIM:607323
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Arrhythmia, Abnormal retinal vascular morphology, Deve... ORPHA:2119
Ramos-Arroyo Syndrome
Keratitis, Choriocapillaris atrophy, Chorioretinal atrophy, Aganglionic megacolon, Abnormal auton... ORPHA:1051
Amyotrophic Lateral Sclerosis 23
Degeneration of anterior horn cells, Amyotrophic lateral sclerosis OMIM:617839
Edict Syndrome
Keratoconus, Microcornea, Hypoplasia of the iris, Astigmatism, Anterior polar cataract OMIM:614303
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Glaucoma, Microcornea, Facial paralysis, Hypopigmentation of the fundus, Hypoplasia of the iris, ... OMIM:175780
Bartsocas-Papas Syndrome 2
Axillary pterygium, Small hand, Popliteal pterygium, Micrognathia, Microphthalmia, Absent distal ... OMIM:619339
Neuhauser Syndrome
Hypoplasia of the iris, Megalocornea, Iridodonesis, Retinal detachment, Abnormal intraocular pres... OMIM:249310
Split-Hand/Foot Malformation With Long Bone Deficiency 1
Absent forearm, Patellar aplasia, Short hallux, Absent tibia, Split hand, Aplasia/Hypoplasia of t... OMIM:119100
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Unilateral renal agenesis, Aniridia, Developmental glaucoma, Corneal opacity ORPHA:1064
Diabetes Mellitus, Neonatal, With Congenital Hypothyroidism
Umbilical hernia, Portal hypertension, Hiatus hernia, Renal cyst, Buphthalmos, Ocular hypertensio... OMIM:610199
Roberts-Sc Phocomelia Syndrome
Clinodactyly, Micrognathia, Abnormal metacarpal morphology, Absent radius, Microphthalmia, Sparse... OMIM:268300
Cortical Dysplasia, Complex, With Other Brain Malformations 6
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Dilated fourth ventricle, Microphthalm... OMIM:615771
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Megalocornea, Vesicoureteral reflux, Aganglionic megacolon, Corneal ulcerat... OMIM:609460
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Cataract, Microcornea, Optic atrophy, Myopic astigmatism, Astigmatism, Retinal detachment, Chorio... OMIM:152950
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Corneal opacity ORPHA:2370
Thrombocytopenia-Absent Radius Syndrome
Broad thumb, Finger syndactyly, Tibial torsion, Cervical ribs, Horseshoe kidney, Fibular aplasia,... ORPHA:3320
Yemenite Deaf-Blind Hypopigmentation Syndrome
Microcornea, Iris coloboma, Chorioretinal coloboma OMIM:601706
Genitopatellar Syndrome
Hypoplastic ilia, Multicystic kidney dysplasia, Sparse scalp hair, Fine hair, Micrognathia, Patel... ORPHA:85201
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ivory epiphyses, Ectopia pupillae, Bowing of the long bones, Microphthalmia, Short metacarpal, Hy... ORPHA:85167
Campomelic Dysplasia
Delayed epiphyseal ossification, Thin ribs, Hypoplastic scapulae, Hypoplastic cervical vertebrae,... OMIM:114290
Ulnar/Fibula Ray Defect-Brachydactyly Syndrome
Short 5th finger, Postaxial oligodactyly, Talipes equinovarus, Brachydactyly, Aplasia/Hypoplasia ... ORPHA:52056
Congenital Disorder Of Glycosylation With Defective Fucosylation 1
Buphthalmos, Nephrocalcinosis, Glaucoma, Joint contracture OMIM:618005
Microphthalmia, Syndromic 13
Microcornea, Iris coloboma, Chorioretinal coloboma, Microphthalmia OMIM:300915
Tibial Hemimelia-Polysyndactyly-Triphalangeal Thumb Syndrome
Aplasia/Hypoplasia of the tibia, Synostosis of carpal bones, Patellar aplasia, Aplasia/Hypoplasia... ORPHA:988
Mucolipidosis Type Iii
Inguinal hernia, Corneal opacity ORPHA:577
Meier-Gorlin Syndrome 3
Narrow chest, Microretrognathia, Sparse pubic hair, Slender long bone, Patellar hypoplasia, Short... OMIM:613803
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Temtamy Preaxial Brachydactyly Syndrome
Abnormal optic disc morphology, Abnormally large globe, Optic atrophy, Abnormal lens morphology ORPHA:363417
Mietens Syndrome
Cataract, Microcornea, Elbow dislocation, Avascular necrosis of the capital femoral epiphysis, Ta... ORPHA:2557
Penoscrotal Transposition
Pectus carinatum, Penoscrotal transposition, Abnormality of the urethra, Abnormality of the urete... ORPHA:2842
Holt-Oram Syndrome
Hypoplastic scapulae, Short forearm, Radial bowing, Elbow dislocation, Micrognathia, Ulnar deviat... OMIM:142900
Rothmund-Thomson Syndrome Type 1
Sparse hair, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosis, Alopecia totalis... ORPHA:221008
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Prolonged QT interval, Aganglionic megacolon, Arrhythmia, Abnormal pupil morphology ORPHA:2151
Ulnar Agenesis And Endocardial Fibroelastosis
Finger aplasia, Aplasia of the ulna, Neonatal death OMIM:276822
Bartsocas-Papas Syndrome 1
Hypoplastic scapulae, Hypoplastic iliac wing, Alopecia totalis, Micrognathia, Absent eyelashes, T... OMIM:263650
Short Syndrome
Glaucoma, Hypoplasia of the iris, Megalocornea, Abnormal dental enamel morphology, Abnormal pupil... ORPHA:3163
Hao-Fountain Syndrome
Delayed cranial suture closure, Large fontanelles, Aggressive behavior, Hallux valgus, Micropenis... OMIM:616863
Kuskokwim Syndrome
Talipes, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Aplasia/Hypoplasia of th... ORPHA:1149
Cataract 11, Multiple Types
Cataract, Developmental cataract, Microphthalmia OMIM:610623
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome
Cataract, Narrow chest, Rhizomelia, Abnormal epiphysis morphology, Abnormal clavicle morphology, ... ORPHA:93267
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects
Hypoplastic scapulae, Finger syndactyly, Micrognathia, 2-5 finger syndactyly, Absent toe, Syndact... OMIM:308050
Femur, Unilateral Bifid, With Monodactylous Ectrodactyly
Bifid femur, Aplasia of the ulna, Absent tibia, Split hand, Hand monodactyly, Foot monodactyly OMIM:228250
Congenital Microcoria
Iris hypopigmentation, Nuclear cataract, Ocular hypertension, Megalocornea, Astigmatism, Corneal ... ORPHA:566
Sjögren-Larsson Syndrome
Macular degeneration, Abnormal dental enamel morphology, Abnormality of retinal pigmentation, Ret... ORPHA:816
Melnick-Needles Syndrome
Hypoplastic scapulae, Delayed cranial suture closure, Genu valgum, Micrognathia, Talipes equinova... OMIM:309350
Congenital Rubella Syndrome
Cataract, Glaucoma, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Corneal ... ORPHA:290
Rothmund-Thomson Syndrome Type 2
Sparse hair, Joint dislocation, Patellar hypoplasia, Plantar hyperkeratosis, Metaphyseal sclerosi... ORPHA:221016
Amyotrophic Lateral Sclerosis, Juvenile, With Dementia
Amyotrophic lateral sclerosis OMIM:205200
Mucoepithelial Dysplasia, Hereditary
Cataract, Corneal neovascularization, Hematuria, Keratoconjunctivitis, Melena, Opacification of t... OMIM:158310
Acro-Renal-Mandibular Syndrome
Thin ribs, Pectus carinatum, Hypoplastic scapulae, Abnormal clavicle morphology, Finger syndactyl... ORPHA:958
Microphthalmia/Coloboma 9
Microcornea, Retinal detachment, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea... OMIM:615145
Chromosome 16Q12 Duplication Syndrome
Cataract, Central thinning of the outer nuclear layer of the retina, Retinal pigment epithelial m... OMIM:619649
Cat-Eye Syndrome
Chorioretinal coloboma, Hydronephrosis, Abnormal rib morphology, Microphthalmia, Hip dysplasia, I... ORPHA:195
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Cataract, Optic atrophy, Glaucoma, Megalocornea, Hypoplasia of the retina, Retinal degeneration, ... OMIM:253280
Osteoporosis-Pseudoglioma Syndrome
Exudative vitreoretinopathy, Angle closure glaucoma, Abnormal vitreous humor morphology, Retinal ... ORPHA:2788
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency
Hypoplastic scapulae, Clinodactyly, Humeroradial synostosis, Arachnodactyly, Radioulnar synostosi... ORPHA:95699
Woolly Hair Nevus
Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Brac... ORPHA:79414
Sturge-Weber Syndrome
Choroidal hemangioma, Buphthalmos OMIM:185300
Scholte Syndrome
Small hand, Patellar hypoplasia, Acromicria, Micropenis, Short foot OMIM:300977
Irvan Syndrome
Retinal exudate, Optic atrophy, Macular edema, Glaucoma, Tractional retinal detachment, Vitreous ... ORPHA:209943
Microphthalmia, Isolated 5
Cataract, Foveoschisis, Cystoid macular edema, Optic disc drusen, Optic disc pallor, Bone spicule... OMIM:611040
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Sjogren-Larsson Syndrome
Macular degeneration, Retinal thinning, Astigmatism, Macular dots, Enamel hypoplasia, Opacificati... OMIM:270200
Microphthalmia With Brain And Digit Anomalies
Cataract, Microcornea, Chorioretinal coloboma, Anophthalmia, Microphthalmia, Sclerocornea, Iris c... ORPHA:139471
Cofs Syndrome
Cataract, Camptodactyly of finger, Micrognathia, Death in infancy, Talipes, Microphthalmia, Promi... ORPHA:1466
Cleidocranial Dysplasia 1
Hypoplastic scapulae, Absent paranasal sinuses, Hypoplastic iliac wing, Micrognathia, Delayed pub... OMIM:119600
Amyotrophic Lateral Sclerosis 19
Amyotrophic lateral sclerosis OMIM:615515
Cockayne Syndrome
Lentiglobus, Reduced subcutaneous adipose tissue, Peripheral axonal neuropathy, Microphthalmia, U... ORPHA:191
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome
Renal cyst, Keratoconjunctivitis sicca, Corneal opacity, Buphthalmos, Hypospadias, Corneal dystro... ORPHA:495875
Isolated Ectopia Lentis
Hypertension, Cataract, Ectopia lentis, Ectopia pupillae ORPHA:1885
Oculopalatocerebral Syndrome
Leukocoria, Remnants of the hyaloid vascular system, Microphthalmia OMIM:257910
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type
Shortening of all phalanges of fingers, Wormian bones, Limb undergrowth, Shortening of all metaca... OMIM:601356
Sialidosis Type 2
Nephropathy, Abnormal macular morphology, Umbilical hernia, Inguinal hernia, Corneal opacity, Fle... ORPHA:87876
Amyotrophic Lateral Sclerosis With Polyglucosan Bodies
Amyotrophic lateral sclerosis OMIM:205250
Gombo Syndrome
Brachydactyly, Radial deviation of finger, Clinodactyly, Microphthalmia OMIM:233270
Neuropathy, Hereditary Sensory And Autonomic, Type Vi
Corneal scarring, Bradycardia, Retinal hemorrhage, Tachycardia, Flexion contracture, Hypertension OMIM:614653
Meier-Gorlin Syndrome 5
Clinodactyly, Slender long bone, Elbow dislocation, Hypoplasia of the capital femoral epiphysis, ... OMIM:613805
Temtamy Syndrome
Short toe, Chorioretinal coloboma, Micrognathia, Pes planus, Brachydactyly, Microphthalmia, Clino... ORPHA:1777
Glaucoma 1, Open Angle, F
Open angle glaucoma, Ocular hypertension, Increased cup-to-disc ratio OMIM:603383
Hurler-Scheie Syndrome
Hernia, Abnormal nerve conduction velocity, Cardiomyopathy, Corneal opacity ORPHA:93476
Rapadilino Syndrome
Sparse eyebrow, Aplasia/Hypoplasia of the radius, Joint dislocation, Absent thumb, Sparse eyelash... OMIM:266280
Van Bogaert-Hozay Syndrome
Abnormal hair morphology, Micrognathia, Astigmatism, Osteolytic defects of the phalanges of the h... OMIM:277150
Porphyria Cutanea Tarda
Corneal scarring, Increased urinary porphobilinogen, Stage 5 chronic kidney disease, Porphyrinuri... ORPHA:101330
Craniotelencephalic Dysplasia
Optic atrophy, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Frontal encepha... ORPHA:1528
Ritscher-Schinzel Syndrome 3
Highly arched eyebrow, Short 1st metacarpal, Chorioretinal coloboma, Short first metatarsal, Epip... OMIM:619135
Harel-Yoon Syndrome
Optic atrophy, Hypertrophic cardiomyopathy, Peripheral axonal neuropathy, Developmental cataract,... OMIM:617183
Cutis Marmorata Telangiectatica Congenita
Glaucoma, Telangiectasia, Leukocoria, Retinal detachment, Hypertension OMIM:219250
Developmental Delay With Variable Neurologic And Brain Abnormalities
Cataract, Sparse lateral eyebrow, Micrognathia, Astigmatism, Knee flexion contracture, Down-slopi... OMIM:619694
Pierre Robin Sequence With Pectus Excavatum And Rib And Scapular Anomalies
Pectus excavatum, Micrognathia, Hypoplastic distal segments of scapulae, Abnormal rib morphology OMIM:602196
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 10
Cerebellar dysplasia, Neural tube defect OMIM:615041
Short-Rib Thoracic Dysplasia 12
Hypoplastic scapulae, Broad foot, Neonatal death, Short palm, Short foot, Short toe, Horizontal r... OMIM:269860
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Gms Syndrome
Tricuspid regurgitation, Rieger anomaly ORPHA:2090
Microcephaly-Microcornea Syndrome, Seemanova Type
Cataract, Microcornea, Microphthalmia ORPHA:2528
Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105500
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Optic atrophy, Glaucoma, Ectopia pupillae, Astigmatism, Scarring alopecia of scalp, Ena... OMIM:618727
Brachyolmia Type 1, Hobaek Type
Opacification of the corneal stroma, Corneal opacity OMIM:271530
Aniridia 2
Optic atrophy, Cataract, Aniridia, Lens subluxation, Iris coloboma OMIM:617141
Corneal Dystrophy, Posterior Polymorphous, 4
Ectopia pupillae OMIM:618031
Erythrokeratodermia Variabilis
Cataract, Glaucoma, Corneal opacity ORPHA:317
Shigellosis
Hypovolemic shock, Acute kidney injury, Urethritis, Myocarditis, Conjunctivitis, Corneal ulcerati... ORPHA:810
Oculodentodigital Dysplasia, Autosomal Recessive
Fifth finger distal phalanx clinodactyly, Cataract, Microcornea, Small hand, Sparse hair, 2-4 toe... OMIM:257850
Wagr Syndrome
Cataract, Aplasia/Hypoplasia of the iris ORPHA:893
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Metaphyseal cupping, Rhizomelia, Flared metaphysis, Ectopia pupillae, Short finger, Femoral bowin... OMIM:608940
Atelosteogenesis, Type I
Radial bowing, Elbow dislocation, Fibular aplasia, Micrognathia, Bell-shaped thorax, Encephalocel... OMIM:108720
Meier-Gorlin Syndrome 4
Genu recurvatum, Slender long bone, Breast hypoplasia, Micrognathia, Patellar aplasia, Lateral cl... OMIM:613804
Ophthalmomandibulomelic Dysplasia
Glaucoma, Corneal opacity, Camptodactyly of finger, Megalocornea ORPHA:2741
Leprosy
Corneal perforation, Enlarged peripheral nerve, Epistaxis, Glaucoma, Abnormal autonomic nervous s... ORPHA:548
Galloway-Mowat Syndrome 1
Optic atrophy, Cataract, Cerebellar atrophy, Hypoplasia of the iris, Hypoplasia of the brainstem,... OMIM:251300
Frank-Ter Haar Syndrome
Abnormally large globe, Megalocornea, Camptodactyly, Buphthalmos, Developmental glaucoma OMIM:249420
Chudley-Mccullough Syndrome
Cerebellar dysplasia, Dysplastic corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Partial a... OMIM:604213
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Hematuria, Proximal renal tubular acidosis, Chorioretinal dysplasia, Microphthalmia,... ORPHA:534
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts
Cataract, Death in infancy, Neonatal death, Microphthalmia, Optic disc pallor, Ectopic kidney, Cy... OMIM:613730
Septopreoptic Holoprosencephaly
Abnormal midbrain morphology, Rhombencephalosynapsis, Ethmoidal encephalocele, Hypoplasia of the ... ORPHA:280195
Juvenile Primary Lateral Sclerosis
Abnormal upper motor neuron morphology ORPHA:247604
Meckel Syndrome, Type 4
Agenesis of cerebellar vermis, Encephalocele, Hydrocephalus, Molar tooth sign on MRI, Microphthal... OMIM:611134
Familial Dysautonomia
Optic atrophy, Abnormal pupil morphology, Renal insufficiency, Heterochromia iridis, Orthostatic ... ORPHA:1764
Unilateral Ocular Duplication
Microcornea, Abnormal pupil morphology, Iris coloboma ORPHA:3374
Mitochondrial Dna Depletion Syndrome 6 (Hepatocerebral Type)
Recurrent corneal erosions, Corneal scarring, Corneal ulceration, Decreased number of peripheral ... OMIM:256810
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome
Microcornea, Peripheral retinal atrophy, Absent foveal reflex, Iris coloboma, Retinal dystrophy OMIM:615147
Meckel Syndrome 13
Cerebellar hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:617562
Oculocutaneous Albinism Type 6
Abnormal iris pigmentation, Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnorma... ORPHA:370097
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Rhizomelia, Ectopia pupillae, Long eyelashes, Anophthalmia, 2-3 toe syndac... OMIM:615877
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 6
Optic atrophy, Pigmentary retinopathy, Posterior synechiae of the anterior chamber, Developmental... OMIM:613154
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Hypoplastic scapulae, Abnormality of the costochondral junction, Short tibia, Thumb contracture, ... ORPHA:96334
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome
Ocular albinism, Micrognathia, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent ra... ORPHA:1352
Osteoglophonic Dysplasia
Hypoplastic scapulae, Broad thumb, Broad foot, Bowing of the long bones, Chordee, Broad phalanx, ... OMIM:166250
Acrorenal-Mandibular Syndrome
Thin ribs, Hypoplastic scapulae, Toe syndactyly, Narrow chest, Absent nipple, Rudimentary fibula,... OMIM:200980
Walker-Warburg Syndrome
Cataract, Microcornea, Optic atrophy, Glaucoma, Abnormal optic nerve morphology, Anophthalmia, Ch... ORPHA:899
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Umbilical hernia, Inguinal hernia, Keratoglobus, ... OMIM:614170
Multicentric Carpotarsal Osteolysis Syndrome
Stage 5 chronic kidney disease, Renal insufficiency, Congenital diaphragmatic hernia, Proteinuria... OMIM:166300
Coats Disease
Leukocoria, Retinal telangiectasia, Exudative retinal detachment OMIM:300216
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Cerebrooculofacioskeletal Syndrome 2
Sparse hair, Cataract, Camptodactyly of finger, Micrognathia, Death in childhood, Developmental c... OMIM:610756
Acrocapitofemoral Dysplasia
Short tibia, Radial bowing, Hypoplastic iliac wing, Dysplasia of the femoral head, Cone-shaped ep... OMIM:607778
Microcephaly-Micromelia Syndrome
Narrow chest, Absent thumb, Short tibia, Micromelia, Oligodactyly, Micrognathia, Humeroradial syn... OMIM:251230
Duane Retraction Syndrome
Chorioretinal coloboma, Micrognathia, Low posterior hairline, Aplasia/Hypoplasia of the thumb, Ta... ORPHA:233
Congenital Radioulnar Synostosis
Congenital hip dislocation, Abnormality of the musculature of the upper arm, Abnormal morphology ... ORPHA:3269
Temtamy Syndrome
Highly arched eyebrow, Ectopia lentis, Chorioretinal coloboma, Micrognathia, Self-mutilation, Tal... OMIM:218340
Joubert Syndrome With Renal Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, ... ORPHA:220497
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Optic atrophy, Pigmentary retinopathy, Generalized aminoaciduria, Corneal scarring, Corneal neova... ORPHA:404454
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Cataract, Optic atrophy, Hypertrophic cardiomyopathy, 3-Methylglutaconic aciduria, Peripheral axo... ORPHA:496790
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1
Cataract, Cerebellar hypoplasia, Microphthalmia, Optic disc pallor, Chorioretinal dysplasia OMIM:251270
Amyotrophic Lateral Sclerosis 16, Juvenile
Amyotrophic lateral sclerosis OMIM:614373
Humerofemoral Hypoplasia With Radiotibial Ray Deficiency
Hypoplastic scapulae, Absent thumb, Elbow flexion contracture, Hypoplastic pelvis, Short clavicle... OMIM:618022
Isolated Aniridia
Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula ORPHA:250923
Loose Anagen Syndrome
Iris coloboma ORPHA:168
Alport Syndrome 2, Autosomal Recessive
Cataract, Nephritis, Anterior lenticonus, Stage 5 chronic kidney disease, Renal insufficiency, Pr... OMIM:203780
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Glaucoma, Mitral stenosis, Retinal degeneration, Cor... OMIM:607016
Waardenburg Syndrome, Type 2A
Heterochromia iridis, Hypoplastic iris stroma OMIM:193510
Gollop-Wolfgang Complex
Aplasia/Hypoplasia of the tibia, Bifid femur, Ectrodactyly, Aplasia/Hypoplasia of the ulna, Hand ... ORPHA:1986
Cone-Rod Dystrophy 16
Cataract, Attenuation of retinal blood vessels, Cone/cone-rod dystrophy, Beaten bronze macular sh... OMIM:614500
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3
Chorioretinal dysplasia, Microphthalmia OMIM:616335
Patella Aplasia-Hypoplasia
Patellar aplasia, Patellar hypoplasia OMIM:168860
Brachydactyly, Type B1
Joint contracture of the hand, Broad thumb, Hypoplastic sacrum, Delayed cranial suture closure, C... OMIM:113000
Campomelic Dysplasia
Small abnormally formed scapulae, Narrow chest, 11 pairs of ribs, Femoral bowing, Micrognathia, T... ORPHA:140
Pierpont Syndrome
Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Deep plan... OMIM:602342
Cerebellar, Ocular, Craniofacial, And Genital Syndrome
Buphthalmos, Keratoconjunctivitis sicca, Retinal degeneration OMIM:618479
Warburg Micro Syndrome 1
Optic atrophy, Microcornea, Cerebellar vermis hypoplasia, Agenesis of corpus callosum, Cerebellar... OMIM:600118
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma
Cystoid macular degeneration, Glaucoma, Macular atrophy, Retinal degeneration, Microphthalmia, Sh... OMIM:267760
Clubfoot, Congenital, With Or Without Deficiency Of Long Bones And/Or Mirror-Image Polydactyly
Popliteal pterygium, Patellar hypoplasia, Preaxial foot polydactyly, Mirror image foot polydactyl... OMIM:119800
Joubert Syndrome With Oculorenal Defect
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Encephalocele, Aganglionic megacolon, Hydro... ORPHA:2318
Aniridia-Intellectual Disability Syndrome
Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia ORPHA:1068
Amyotrophic Lateral Sclerosis 9
Amyotrophic lateral sclerosis OMIM:611895
Ophthalmoplegia, Familial Static
Anisocoria OMIM:165000
Congenital Ichthyosiform Erythroderma
Keratitis, Corneal erosion ORPHA:79394
Fryns-Smeets-Thiry Syndrome
Arachnodactyly, Hip dislocation, Micrognathia, Patellar aplasia ORPHA:2058
Greig Cephalopolysyndactyly Syndrome
Keratoconus, Joint contracture of the hand, Broad thumb, Postaxial foot polydactyly, Delayed cran... OMIM:175700
Multiple Synostoses Syndrome 1
Carpal synostosis, Cutaneous finger syndactyly, Proximal/middle symphalangism of 5th toe, Lower l... OMIM:186500
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8
Cerebellar hypoplasia, Hydrocephalus, Microphthalmia OMIM:614830
Corpus Callosum, Agenesis Of, With Abnormal Genitalia
Optic atrophy, Abnormally large globe, Hypospadias, Limb joint contracture OMIM:300004
Bietti Crystalline Dystrophy
Pigmentary retinopathy, Retinal pigment epithelial mottling, Retinal thinning, Choriocapillaris a... ORPHA:41751
Rodrigues Blindness
Sclerocornea, Microcornea, Microphthalmia OMIM:268320
Li-Campeau Syndrome
Patellar hypoplasia, Hypertrichosis, Thick eyebrow, Single transverse palmar crease, Micropenis OMIM:619189
Syndromic Recessive X-Linked Ichthyosis
Unilateral renal agenesis, Renal insufficiency, Corneal opacity ORPHA:281090
Adams-Oliver Syndrome 2
Optic atrophy, Lateral ventricle dilatation, Cerebellar hypoplasia, Hydrocephalus, Developmental ... OMIM:614219
Congenital Disorder Of Deglycosylation 1
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Heparan sulfate excre... OMIM:615273
Congenital Varicella Syndrome
Cataract, Micromelia, Microphthalmia ORPHA:291
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome
Cataract, Hydrocephalus, Microphthalmia OMIM:601794
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Xeroderma Pigmentosum, Complementation Group G
Cataract, Microphthalmia OMIM:278780
Fish-Eye Disease
Angina pectoris, Corneal opacity ORPHA:79292
Acromesomelic Dysplasia 2C
Acromesomelia, Shortening of all middle phalanges of the fingers, Short tibia, Short thumb, Radia... OMIM:201250
Kid Syndrome
Keratitis, Corneal neovascularization, Limbal stem cell deficiency, Knee flexion contracture, Pun... ORPHA:477
Weyers Ulnar Ray/Oligodactyly Syndrome
Finger aplasia, Absent thumb, Proximal radial head dislocation, Micrognathia, Hydronephrosis, Hyp... OMIM:602418
Ear-Patella-Short Stature Syndrome
Aplastic clavicle, Abnormal epiphysis morphology, Slender long bone, Elbow dislocation, Camptodac... ORPHA:2554
Metaphyseal Dysplasia, Braun-Tinschert Type
Radial bowing, Sclerosis of middle finger phalanx, Broad long bones, Humerus varus, Fibular bowin... ORPHA:85188
Trisomy 13
Optic atrophy, Cataract, Chiari malformation, Anophthalmia, Aplasia/Hypoplasia of the iris, Micro... ORPHA:3378
Lowe Oculocerebrorenal Syndrome
Aminoaciduria, Glaucoma, Joint contracture of the hand, Keloids, Camptodactyly of finger, Low-mol... OMIM:309000
Megalocornea-Intellectual Disability Syndrome
Hypoplasia of the iris, Megalocornea, Astigmatism, Iridodonesis, Abnormal anterior chamber morpho... ORPHA:2479
Alagille Syndrome
Keratoconus, Short distal phalanx of finger, Nephrotic syndrome, Abnormality of the ureter, Abnor... ORPHA:52
Brachydactyly Type A1
Cone-shaped epiphysis, Distal symphalangism of hands, Short thumb, Talipes equinovarus, Short hal... ORPHA:93388
Nivelon-Nivelon-Mabille Syndrome
Cerebellar vermis hypoplasia, Optic disc coloboma, Hypoplasia of the iris OMIM:600092
Porphyria, Congenital Erythropoietic
Joint contracture of the hand, Atypical scarring of skin, Corneal scarring, Red urine, Pink urine... OMIM:263700
Donnai-Barrow Syndrome
Cataract, Hypoplasia of the iris, Umbilical hernia, Agenesis of corpus callosum, Partial agenesis... OMIM:222448
Wagro Syndrome
Cataract, Aniridia, Proteinuria, Corneal opacity, Ocular hypertension, Hypertension OMIM:612469
Familial Apolipoprotein Gene Cluster Deletion Syndrome
Corneal arcus OMIM:620058
Joubert Syndrome 22
Agenesis of cerebellar vermis, Molar tooth sign on MRI, Microphthalmia OMIM:615665
Abetalipoproteinemia
Hypopigmentation of the fundus, Congestive heart failure, Abnormality of retinal pigmentation, Ke... ORPHA:14
Hydrolethalus Syndrome 2
Anencephaly, Hydrocephalus, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:614120
Müllerian Duct Anomalies-Limb Anomalies Syndrome
Micromelia, Abnormality of the wrist, Short humerus, Aplasia/Hypoplasia of the ulna, Split hand, ... ORPHA:2491
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Death in childhood, Corneal opacity OMIM:618961
Intellectual Developmental Disorder, Autosomal Recessive 71
Micropenis, Unilateral renal agenesis, Abnormally large globe OMIM:618504
Ectopia Pupillae
Ectopia pupillae OMIM:129750
Microcephaly With Chemotactic Defect And Transient Hypogammaglobulinemia
Micrognathia, Patellar hypoplasia OMIM:251240
Joubert Syndrome 14
Optic atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Agenesis of cerebellar ... OMIM:614424
Hepatoerythropoietic Porphyria
Red-brown urine, Purple urine, Red urine, Keratoconjunctivitis, Scarring, Scarring alopecia of sc... ORPHA:95159
Pierpont Syndrome
Microcornea, High anterior hairline, Short toe, Prominent fingertip pads, Short finger, Abnormali... ORPHA:487825
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4
Optic atrophy, Cataract, Dilated cardiomyopathy, Hypoplasia of the brainstem, Encephalocele, Agen... OMIM:253800
Joubert Syndrome 36
Molar tooth sign on MRI OMIM:618763
Familial Exudative Vitreoretinopathy
Cataract, Macular edema, Vitreoretinopathy, Subretinal fluid, Epiretinal membrane, Tractional ret... ORPHA:891
Joubert Syndrome 25
Cerebellar hypoplasia, Molar tooth sign on MRI OMIM:616781
Multiple Epiphyseal Dysplasia, Al-Gazali Type
Molar tooth sign on MRI, Agenesis of corpus callosum ORPHA:166024
Recombinant 8 Syndrome
Deep plantar creases, Abnormal sternum morphology, Camptodactyly of finger, Abnormal hair morphol... ORPHA:96167
Acro-Renal-Ocular Syndrome
Toe syndactyly, Short distal phalanx of the thumb, Finger syndactyly, Chorioretinal coloboma, Rad... ORPHA:959
Fibular Hemimelia
Toe syndactyly, Finger syndactyly, Short tibia, Limited knee flexion/extension, Structural foot d... ORPHA:93323
Joubert Syndrome With Ocular Defect
Cerebellar vermis hypoplasia, Encephalocele, Agenesis of corpus callosum, Aganglionic megacolon, ... ORPHA:220493
Metaphyseal Anadysplasia
Aplasia/Hypoplasia of the radius, Abnormal epiphysis morphology, Abnormal ulnar metaphysis morpho... ORPHA:1040
Microphthalmia-Brain Atrophy Syndrome
Lateral ventricle dilatation, Bilateral microphthalmos, Cerebellar vermis atrophy, Atrophy/Degene... ORPHA:77299
Deafness, Autosomal Recessive 108
Iris coloboma OMIM:617654
Crane-Heise Syndrome
Aplastic clavicle, Hypoplastic scapulae, Toe syndactyly, Short distal phalanx of finger, Finger s... ORPHA:1512
Hoxha-Aliu Syndrome
Overlapping toe, Absent fifth metatarsal, Broad foot, Patellar dislocation, Short distal phalanx ... OMIM:620662
Meier-Gorlin Syndrome 2
Slender long bone, Breast hypoplasia, Micrognathia, Patellar aplasia, Camptodactyly OMIM:613800
Oculo-Palato-Cerebral Syndrome
Cataract, Glaucoma, Leukocoria, Retinal detachment, Remnants of the hyaloid vascular system, Micr... ORPHA:2714
Ulna Hypoplasia-Intellectual Disability Syndrome
Mesomelia, Ulnar deviation of finger, Broad thumb, Micromelia, Elbow dislocation, Delayed cranial... ORPHA:2249
Glaucoma 1, Primary Open Angle, C
Glaucoma, Ocular hypertension OMIM:601682
Amoebiasis Due To Free-Living Amoebae
Corneal perforation, Conjunctival hyperemia, Arrhythmia, Facial palsy, Corneal ulceration ORPHA:68
Tubulointerstitial Nephritis And Uveitis Syndrome
Posterior synechiae of the anterior chamber, Retinal vasculitis, Tubulointerstitial nephritis, Am... ORPHA:91500
Leri-Weill Dyschondrosteosis
Mesomelia, Increased carrying angle, Abnormal femoral neck morphology, Short tibia, Radial bowing... OMIM:127300
Scheie Syndrome
Aortic regurgitation, Abnormal nerve conduction velocity, Glaucoma, Mucopolysacchariduria, Cornea... ORPHA:93474
Central Retinal Vein Occlusion
Glaucoma, Pigmentary retinopathy, Macular degeneration, Macular edema, Retinal vascular tortuosit... ORPHA:411527
Peroxisome Biogenesis Disorder 7A (Zellweger)
Cataract, Large posterior fontanelle, Epiphyseal stippling, Death in infancy, Talipes equinovarus... OMIM:614872
Amyotrophic Lateral Sclerosis 11
Amyotrophic lateral sclerosis OMIM:612577
Lcat Deficiency
Acute kidney injury, Decreased glomerular filtration rate, Stage 5 chronic kidney disease, Renal ... ORPHA:650
Autoinflammation, Antibody Deficiency, And Immune Dysregulation
Cellulitis, Cataract, Corneal erosion OMIM:614878
Lacrimoauriculodentodigital Syndrome
Renal hypoplasia, Abnormal dental enamel morphology, Vesicoureteral reflux, Limbal stem cell defi... ORPHA:2363
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7
Cataract, Peters anomaly, Hypoplasia of the brainstem, Encephalocele, Cerebellar hypoplasia, Hydr... OMIM:614643
Cerebrooculofacioskeletal Syndrome 3
Microphthalmia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:616570
Cenani-Lenz Syndrome
Synostosis of joints, Cataract, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Sh... ORPHA:3258
Craniotelencephalic Dysplasia
Agenesis of corpus callosum, Cerebellar hypoplasia, Frontal encephalocele, Microphthalmia, Optic ... OMIM:218670
Aniridia 3
Cataract, Aniridia OMIM:617142
Myopia 23, Autosomal Recessive
Increased axial length of the globe OMIM:615431
Curry-Jones Syndrome
Broad thumb, Toe syndactyly, Finger syndactyly, Preaxial hand polydactyly, Generalized hirsutism,... ORPHA:1553
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Retinopathy, Corneal opacity ORPHA:578
Proteus-Like Syndrome
Cataract, Subcutaneous lipoma, Abnormal pupil morphology, Heterochromia iridis, Retinal detachmen... ORPHA:2969
Recessive Dystrophic Epidermolysis Bullosa Inversa
Urethral stricture, Atrophic scars, Corneal erosion ORPHA:79409
Prader-Willi Syndrome Due To Imprinting Mutation
Iris hypopigmentation, Small hand, Narrow palm, Polyphagia, Hypopigmentation of hair, Short foot,... ORPHA:177910
Stromme Syndrome
Cataract, Microcornea, Peters anomaly, Retinal vascular tortuosity, Bilateral renal hypoplasia, M... OMIM:243605
Axenfeld-Rieger Syndrome, Type 1
Glaucoma, Microcornea, Abnormally prominent line of Schwalbe, Ectopia pupillae, Megalocornea, Hyp... OMIM:180500
Orofaciodigital Syndrome Xv
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:617127
Xp22.3 Microdeletion Syndrome
Opacification of the corneal stroma ORPHA:1643
Recessive X-Linked Ichthyosis
Opacification of the corneal stroma ORPHA:461
Brachyolmia Type 1, Toledo Type
Opacification of the corneal stroma, Increased urinary disaccharide excretion OMIM:271630
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Elbow flexion contracture, Corneal neovascularization, L... OMIM:618175
Joubert Syndrome 30
Cerebellar atrophy, Agenesis of corpus callosum, Molar tooth sign on MRI, Superior cerebellar dys... OMIM:617622
Myopia 27, Autosomal Dominant
Increased axial length of the globe OMIM:618827
Zellweger Syndrome
Cataract, Optic atrophy, Multicystic kidney dysplasia, Glaucoma, Death in infancy, Hydronephrosis... ORPHA:912
Schneckenbecken Dysplasia
Hypoplastic ilia, Hypoplastic scapulae, Narrow chest, Micromelia, Fibular hypoplasia, Short ribs,... ORPHA:3144
Frontonasal Dysplasia 1
Cranium bifidum occultum, Cataract, Joint contracture of the hand, Anterior basal encephalocele, ... OMIM:136760
Microcephalic Primordial Dwarfism, Montreal Type
Abnormally large globe OMIM:210700
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Oligosacchariduria, Corneal opacity, Optic disc pallor ORPHA:309288
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Sensory axonal neuropathy, Corneal opacity OMIM:620469
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 5
Amyotrophic lateral sclerosis OMIM:619141
Joubert Syndrome 16
Dandy-Walker malformation, Encephalocele, Molar tooth sign on MRI OMIM:614465
Sialidosis Type 1
Aminoaciduria, Cataract, Urinary excretion of sialylated oligosaccharides, Cherry red spot of the... ORPHA:812
Chromosome 3Q29 Duplication Syndrome
Abnormally large globe OMIM:611936
Nephronophthisis 11
Nephronophthisis, Stage 5 chronic kidney disease, Retinal degeneration, Renal corticomedullary cy... OMIM:613550
Spondyloperipheral Dysplasia
Broad thumb, Absent styloid process of ulna, Barrel-shaped chest, Flat acetabular roof, Short dis... OMIM:271700
Heart-Hand Syndrome Type 2
Asymmetry of the thorax, Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Micromel... ORPHA:1350
Bangstad Syndrome
Abnormally large globe OMIM:210740
Facial Spasm
Anisocoria OMIM:134300
Nanophthalmos 1
Bilateral microphthalmos OMIM:600165
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Acrofacial Dysostosis, Rodríguez Type
Finger aplasia, Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Microre... ORPHA:1788
Microphthalmia, Isolated 7
Microphthalmia OMIM:613704
Nanophthalmos 2
Microphthalmia OMIM:609549
Adams-Oliver Syndrome 4
Aplasia of the distal phalanges of the toes, Short toe, Umbilical hernia, Aplasia of the middle p... OMIM:615297
Multicentric Osteolysis, Nodulosis, And Arthropathy
Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hi... OMIM:259600
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome
Cataract, Microcornea, Micrognathia, Finger joint contracture, Microphthalmia, Flexion contractur... ORPHA:48431
Hereditary Sensory And Autonomic Neuropathy Type 2
Foot acroosteolysis, Abnormality of the ankle, Abnormal epiphysis morphology, Dystrophic toenail,... ORPHA:970
Neurodevelopmental, Jaw, Eye, And Digital Syndrome
Self-injurious behavior, Renal hypoplasia, Sandal gap, Umbilical hernia, Micrognathia, Joint cont... OMIM:618914
Vitreoretinochoroidopathy
Glaucoma, Microcornea, Pigmentary retinopathy, Retinal arteriolar constriction, Abnormality of ch... OMIM:193220
Osebold-Remondini Syndrome
Mesomelia, Radial deviation of finger, Short tibia, Short toe, Type A brachydactyly, Carpal synos... OMIM:112910
Ectodermal Dysplasia-Blindness Syndrome
Cataract, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Sclerocornea, Corneal dystrophy ORPHA:1806
Microsporidiosis
Nephritis, Keratitis, Urethritis, Keratoconjunctivitis, Myocarditis, Corneal ulceration ORPHA:2552
Oculofaciocardiodental Syndrome
Cataract, Microcornea, Highly arched eyebrow, Ectopia lentis, Short thumb, Genu valgum, Flexion c... ORPHA:2712
Joubert Syndrome 2
Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hypoplasia of the brainstem, Chorioreti... OMIM:608091
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Sclerocornea, Holoprose... ORPHA:77298
Hyperlipoproteinemia, Type Ii, And Deafness
Corneal arcus OMIM:144300
Amyotrophic Lateral Sclerosis 6 With Or Without Frontotemporal Dementia
Amyotrophic lateral sclerosis OMIM:608030
Knobloch Syndrome 1
Glaucoma, Band keratopathy, Vitreoretinopathy, Bifid ureter, Attenuation of retinal blood vessels... OMIM:267750
Paternal Uniparental Disomy Of Chromosome 5
Abnormally large globe ORPHA:96190
Joubert Syndrome 18
Agenesis of cerebellar vermis, Occipital encephalocele, Molar tooth sign on MRI, Agenesis of corp... OMIM:614815
Blepharoptosis-Myopia-Ectopia Lentis Syndrome
Iris coloboma, Glaucoma, Ectopia lentis, Abnormality of retinal pigmentation ORPHA:1259
Yunis-Varon Syndrome
Aplasia of the distal phalanx of the hallux, Micrognathia, Sparse eyelashes, Aplasia of the dista... ORPHA:3472
Focal Dermal Hypoplasia
Ectopia lentis, Chorioretinal coloboma, Hypoplasia of the iris, Umbilical hernia, Telangiectasia ... ORPHA:2092
Multiple Sulfatase Deficiency
Cataract, Optic atrophy, Abnormality of retinal pigmentation, Abnormality of peripheral nerve con... ORPHA:585
Langer Mesomelic Dysplasia
Increased carrying angle, Short tibia, Radial bowing, Rudimentary fibula, Rhizomelic arm shorteni... OMIM:249700
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome
Renal hypoplasia, Patellar hypoplasia, Vesicoureteral reflux, Brachydactyly, Short fourth metatarsal ORPHA:464288
Osteogenesis Imperfecta Congenita, Microcephaly, And Cataracts
Pectus carinatum, Wormian bones, Developmental cataract, Stillbirth, Pectus excavatum OMIM:259410
Yunis-Varon Syndrome
Hypoplastic scapulae, Toe syndactyly, Clinodactyly, Micrognathia, Large fontanelles, Bilateral si... OMIM:216340
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
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris ORPHA:782
Hereditary Bullous Dystrophy, Macular Type
Cataract, Heart murmur, Corneal opacity ORPHA:1867
Congenital Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Abnormal EKG, Umbilical hernia, Inguinal ... ORPHA:93400
Hereditary Sensory And Autonomic Neuropathy Type 4
Chronic kidney disease, Atypical scarring of skin, Fasciitis, Corneal scarring, Abnormality of th... ORPHA:642
Tibial Hemimelia
Aplasia of the 2nd metacarpal, Short tibia, Radial club hand, Cutaneous finger syndactyly, Talipe... ORPHA:93322
Oculocerebral Hypopigmentation Syndrome, Preus Type
Iris hypopigmentation, Cataract, Ocular albinism, Abnormal brainstem morphology, Aplasia/Hypoplas... ORPHA:2720
Joubert Syndrome 40
Molar tooth sign on MRI, Optic nerve hypoplasia OMIM:619582
Alacrima, Congenital, Autosomal Recessive
Punctate corneal epithelial erosions OMIM:601549
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Retinal vascular tortuosity, Su... OMIM:305390
Martsolf Syndrome 1
Micrognathia, Low posterior hairline, Talipes equinovarus, Pes planus, Broad fingertip, Microphth... OMIM:212720
Intellectual Disability-Alacrima-Achalasia Syndrome
Anisocoria, Enuresis ORPHA:289483
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1
Abnormally large globe, Mitral regurgitation, Knee flexion contracture OMIM:603387
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Keratitis, Corneal opacity OMIM:602562
Congenital Erythropoietic Porphyria
Red-brown urine, Purple urine, Increased urinary porphobilinogen, Increased connective tissue, Ke... ORPHA:79277
Congenital Insensitivity To Pain With Severe Intellectual Disability
Keratitis, Corneal erosion ORPHA:453510
Lowry-Maclean Syndrome
Megalocornea, Congenital diaphragmatic hernia, Inguinal hernia, Corneal opacity, Hypospadias, Dev... ORPHA:2409
X-Linked Dominant Chondrodysplasia Punctata
Cataract, Microcornea, Sparse eyebrow, Hypoplastic cervical vertebrae, Lower limb asymmetry, Coar... ORPHA:35173
Charcot-Marie-Tooth Disease Type 1E
Calf muscle hypoplasia, Peroneal muscle atrophy, Joint contracture of the hand, Hyporeflexia of u... ORPHA:90658
Mandibuloacral Dysplasia
Increased subcutaneous truncal adipose tissue, Abnormally large globe, Contractures of the large ... ORPHA:2457
Dyschondrosteosis-Nephritis Syndrome
Nephropathy, Proteinuria, Hematuria, Corneal opacity ORPHA:1765
Rere-Related Neurodevelopmental Syndrome
Self-injurious behavior, Hypospadias, Peters anomaly, Chorioretinal coloboma, Micrognathia, Vesic... ORPHA:494344
Craniosynostosis-Impaired Intellectual Development-Clefting Syndrome
Craniosynostosis, Forearm undergrowth, Chorioretinal coloboma, Lower limb undergrowth OMIM:218650
Joubert Syndrome 4
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Thickened superior cerebell... OMIM:609583
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects
Abnormally large globe, Elbow flexion contracture, Congenital diaphragmatic hernia, Inguinal hern... OMIM:245600
Cockayne Syndrome B
Optic atrophy, Microcornea, Abnormal auditory evoked potentials, Hypoplasia of the iris, Decrease... OMIM:133540
Diamond-Blackfan Anemia 11
Finger aplasia, Unilateral renal agenesis, Absent thumb, Unilateral radial aplasia, Radioulnar sy... OMIM:614900
Alport Syndrome 1, X-Linked
Anterior lenticonus, Nephritis, Stage 5 chronic kidney disease, Renal insufficiency, Proteinuria,... OMIM:301050
Intestinal Botulism
Mydriasis, Death in infancy ORPHA:178481
Saul-Wilson Syndrome
Cataract, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Wide anterior fonta... OMIM:618150
Chromosome 16Q22 Deletion Syndrome
Highly arched eyebrow, Narrow chest, Broad hallux, Micrognathia, Single transverse palmar crease,... OMIM:614541
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Bilateral microphthalmos, Conjunctival hyperemia, Multiple lipomas, Corneal opacity, Li... ORPHA:2399
Klippel-Feil Syndrome 3, Autosomal Dominant
Iris coloboma, Chorioretinal coloboma OMIM:613702
Trisomy 9P
Abnormal pupil morphology ORPHA:236
Microphthalmia, Lenz Type
Self-injurious behavior, Cataract, Microcornea, Hypospadias, Abnormal clavicle morphology, Finger... ORPHA:568
Laurin-Sandrow Syndrome
Toe syndactyly, Finger syndactyly, Mirror image polydactyly, Preaxial hand polydactyly, Limb dupl... ORPHA:2378
Autosomal Recessive Ataxia Due To Pex10 Deficiency
Mydriasis, Motor axonal neuropathy ORPHA:247815
Neuronopathy, Distal Hereditary Motor, Autosomal Recessive 4
Abnormal lower motor neuron morphology OMIM:611067
Cerebrooculofacioskeletal Syndrome 1
Cataract, Joint contracture of the hand, Deep longitudinal plantar crease, Elbow flexion contract... OMIM:214150
Meier-Gorlin Syndrome 6
Microretrognathia, Sandal gap, Umbilical hernia, Patellar aplasia, Hip dysplasia, Short middle ph... OMIM:616835
Grant Syndrome
Abnormality of the glenoid fossa, Abnormal pelvic girdle bone morphology, Narrow chest, Joint dis... ORPHA:2097
Alpha-Mannosidosis
Cataract, Inguinal hernia, Corneal opacity ORPHA:61
Boomerang Dysplasia
Absent radius, Neonatal death, Fibular aplasia, Hypoplastic iliac body OMIM:112310
Intellectual Developmental Disorder, X-Linked, Syndromic 17
Anisocoria OMIM:300858
Faciocardiomelic Dysplasia, Lethal
Short 5th finger, Radial deviation of the hand, Short thumb, Micrognathia, Single transverse palm... OMIM:227270
Juvenile Sialidosis Type 2
Cataract, Optic atrophy, Cherry red spot of the macula, Umbilical hernia, Inguinal hernia, Cornea... ORPHA:93399
Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Abnormal lower motor neuron morphology ORPHA:95434
Achalasia-Addisonianism-Alacrima Syndrome
Optic atrophy, Motor axonal neuropathy, Orthostatic hypotension, Abnormal autonomic nervous syste... OMIM:231550
Meckel Syndrome
Optic atrophy, Microcornea, Cataract, Anophthalmia, Aplasia/Hypoplasia of the iris, Encephalocele... ORPHA:564
Short Syndrome
Cataract, Rieger anomaly, Astigmatism, Megalocornea OMIM:269880
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4
Mydriasis, Megacystis, Nephrolithiasis OMIM:619365
Idiopathic Uveal Effusion Syndrome
Abnormal anterior eye segment morphology, Microphthalmia ORPHA:209956
Kniest Dysplasia
Delayed epiphyseal ossification, Cataract, Rhizomelia, Dumbbell-shaped femur, Flared metaphysis, ... OMIM:156550
Rhizomelic Syndrome
Rhizomelia, Micrognathia, Bifid distal phalanx of the thumb, Hip dislocation, Wide anterior fonta... OMIM:268250
Chondrodysplasia-Difference Of Sex Development Syndrome
Chorioretinal coloboma, Hypoplasia of the iris ORPHA:1422
Cat Eye Syndrome
Chorioretinal coloboma, Umbilical hernia, Horseshoe kidney, Micrognathia, Vesicoureteral reflux, ... OMIM:115470
Microphthalmia, Syndromic 8
Microcornea, Split foot, Microphthalmia OMIM:601349
Bresek Syndrome
Renal hypoplasia, Alopecia, Vesicoureteral reflux, Neonatal death, Postaxial hand polydactyly, Mi... ORPHA:85284
Al-Gazali Syndrome
Sclerocornea, Wrist flexion contracture, Hydronephrosis, Corneal opacity OMIM:609465
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Unilateral radial aplasia, Partial absence of thumb, Micrognathia, Compulsive behaviors, Self-mut... ORPHA:476126
Diarrhea 3, Secretory Sodium, Congenital, With Or Without Other Congenital Anomalies
Ureteral duplication, Optic disc coloboma, Corneal erosion OMIM:270420
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Congenital hip dislocation, Pectus carinatum, Dislocation of the femoral head, Frontal upsweep of... OMIM:619797
Rhizomelic Syndrome, Urbach Type
Short distal phalanx of finger, Rhizomelia, Abnormal epiphysis morphology, Preaxial hand polydact... ORPHA:3098
Microbrachycephaly-Ptosis-Cleft Lip Syndrome
Cone-shaped epiphysis, Delayed cranial suture closure, Abnormality of the wrist, Large fontanelle... ORPHA:2511
17Q23.1Q23.2 Microdeletion Syndrome
Highly arched eyebrow, Shallow acetabular fossae, Abnormal epiphysis morphology, Sandal gap, Pate... ORPHA:261279
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Corneal opacity ORPHA:1794
22Q11.2 Deletion Syndrome
Cataract, Optic atrophy, Gastrointestinal hemorrhage, Hypertensive crisis, Renal hypoplasia, Glau... ORPHA:567
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Camptodactyly of finger, Microphthalmia, Corneal opacity, Sclero... ORPHA:284160
Eales Disease
Epistaxis, Macular edema, Glaucoma, Rubeosis iridis, Retinal thinning, Peripheral retinal neovasc... ORPHA:40923
Triokinase And Fmn Cyclase Deficiency Syndrome
Cataract, Dilated cardiomyopathy, Cerebellar hypoplasia, Reduced systolic function, Microphthalmia OMIM:618805
Gracile Bone Dysplasia
Aniridia, Hydrocephalus, Microphthalmia OMIM:602361
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excretion in uri... OMIM:607015
Ulnar-Mammary Syndrome
Short distal phalanx of finger, Pectus carinatum, Renal hypoplasia, Abnormal clavicle morphology,... ORPHA:3138
Ventriculomegaly With Defects Of The Radius And Kidney
Absent thumb, Horseshoe kidney, Bowed forearm bones, Absent radius, Ureteral duplication, Forearm... OMIM:602200
Meier-Gorlin Syndrome 7
Preaxial hand polydactyly, Breast aplasia, Thin eyebrow, Vesicoureteral reflux, Aplasia/Hypoplasi... OMIM:617063
Amyotrophic Lateral Sclerosis 4, Juvenile
Amyotrophic lateral sclerosis, Abnormal lower motor neuron morphology, Atrophy of the spinal cord... OMIM:602433
Baller-Gerold Syndrome
Finger aplasia, Aplasia/Hypoplasia of the radius, Abnormality of the ureter, Micrognathia, Vesico... ORPHA:1225
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type
Delayed epiphyseal ossification, Metaphyseal cupping, Narrow chest, Micromelia, Wide distal femor... OMIM:613320
Symbrachydactyly Of Hands And Feet
Aplasia/Hypoplasia of the radius, Abnormality of the humeroulnar joint, Abnormal morphology of ul... ORPHA:1570
Congenital Tufting Enteropathy
Cataract, Optic disc coloboma, Punctate keratitis, Corneal erosion ORPHA:92050
Immunodeficiency 10
Hypoplasia of the iris OMIM:612783
Joubert Syndrome 32
Hypertrophic cardiomyopathy, Abnormal cerebellum morphology, Molar tooth sign on MRI OMIM:617757
Meckel Syndrome, Type 10
Occipital encephalocele, Dilated fourth ventricle, Cerebellar hypoplasia, Molar tooth sign on MRI... OMIM:614175
Nance-Horan Syndrome
Cataract, Microcornea, Short metacarpal, Microphthalmia ORPHA:627
Cystinosis
Nephropathy, Aminoaciduria, Portal hypertension, Retinopathy, Renal insufficiency, Renal tubular ... ORPHA:213
Joubert Syndrome 15
Exencephaly, Molar tooth sign on MRI OMIM:614464
Olmsted Syndrome 1
Flexion contracture, Opacification of the corneal stroma, Corneal opacity OMIM:614594
Nanophthalmos
Abnormal choroid morphology, Microphthalmia ORPHA:35612
Achondrogenesis, Type Ii
Abnormally large globe, Stillbirth OMIM:200610
Dermochondrocorneal Dystrophy
Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities OMIM:221800
Tetraamelia-Multiple Malformations Syndrome
Cataract, Microcornea, Multicystic kidney dysplasia, Aplasia/Hypoplasia involving the pelvis, Mic... ORPHA:3301
Amyotrophic Lateral Sclerosis 5, Juvenile
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:602099
Sandestig-Stefanova Syndrome
Highly arched eyebrow, Clinodactyly, Sparse medial eyebrow, Bilateral single transverse palmar cr... OMIM:618804
Lecithin:Cholesterol Acyltransferase Deficiency
Proteinuria, Corneal arcus, Renal insufficiency OMIM:245900
Ophthalmomandibulomelic Dysplasia
Opacification of the corneal stroma, Megalocornea OMIM:164900
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome
Short distal phalanx of finger, Wormian bones, Brachydactyly ORPHA:2787
Tetrasomy 9P
Hypoplastic scapulae, Small hand, Joint dislocation, Inappropriate behavior, Umbilical hernia, Ho... ORPHA:3310
Retinitis Pigmentosa 97
Macular degeneration, Rod-cone dystrophy, Iris atrophy OMIM:620422
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia
Optic disc pallor, Optic nerve hypoplasia, Abnormally large globe, Retinal coloboma OMIM:300749
Proteus Syndrome
Cataract, Retinal nonattachment, Long penis, Pulmonary embolism, Lipoma, Central heterochromia, C... ORPHA:744
Rothmund-Thomson Syndrome
Sparse eyebrow, Aplasia/Hypoplasia of the radius, Short thumb, Alopecia totalis, Aplasia/Hypoplas... ORPHA:2909
Marfan Syndrome
Aortic regurgitation, Cataract, Microspherophakia, Increased axial length of the globe, Ectopia l... OMIM:154700
Waardenburg Syndrome, Type 1
Myelomeningocele, Heterochromia iridis, Blue irides, Spina bifida, Hypoplastic iris stroma OMIM:193500
Renal Tubular Acidosis, Proximal, With Ocular Abnormalities And Impaired Intellectual Development
Cataract, Glaucoma, Band keratopathy, Bicarbonate-wasting renal tubular acidosis, Proximal renal ... OMIM:604278
Genitopatellar Syndrome
Congenital hip dislocation, Multicystic kidney dysplasia, Inferior pubic ramus hypoplasia, Microg... OMIM:606170
Iatrogenic Botulism
Mydriasis, Urinary retention, Orthostatic hypotension ORPHA:254509
3Q29 Microduplication Syndrome
Cataract, Aniridia, Camptodactyly of toe, Microphthalmia, Sclerocornea, Iris coloboma ORPHA:251038
Frontofacionasal Dysplasia
Cataract, Microcornea, Limbal dermoid, Encephalocele, Microphthalmia, Brushfield spots, Iris colo... ORPHA:1791
Cutis Laxa, Autosomal Dominant 3
Aortic regurgitation, Unilateral renal agenesis, Hernia, Developmental cataract, Corneal opacity OMIM:616603
Hutchinson-Gilford Progeria Syndrome
Aortic valve stenosis, Aortic regurgitation, Left ventricular systolic dysfunction, Transient isc... ORPHA:740
Potocki-Shaffer syndrome
Delayed cranial suture closure DECIPHER:34
Kniest Dysplasia
Enlarged metaphyses, Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnorma... ORPHA:485
Amyloidosis, Finnish Type
Cataract, Cardiomyopathy, Stage 5 chronic kidney disease, Decreased heart rate variability, Renal... OMIM:105120
Gm1-Gangliosidosis, Type Iii
Opacification of the corneal stroma, Cherry red spot of the macula OMIM:230650
Curry-Jones Syndrome
High anterior hairline, Broad thumb, Unicoronal synostosis, Preaxial hand polydactyly, 3-4 toe sy... OMIM:601707
Acrodysostosis
Cone-shaped metacarpal epiphyses, Cone-shaped epiphysis, Joint dislocation, Short toe, Abnormal d... ORPHA:950
3M Syndrome
Thin ribs, Congenital hip dislocation, Hypospadias, Rocker bottom foot, Slender long bone, Short ... ORPHA:2616
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Hypospadias, Multicystic kidney dysplasia, Unilateral renal agenesis, Keratitis, Umbilical hernia... OMIM:308205
Joubert Syndrome 6
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem, Dilated fourth... OMIM:610688
Otopalatodigital Syndrome, Type Ii
Broad thumb, Toe syndactyly, Radial bowing, Rudimentary fibula, Overlapping fingers, Radial devia... OMIM:304120
Waardenburg Syndrome, Type 2E
Iris hypopigmentation, Ocular albinism, Hypoplasia of the iris, Heterochromia iridis, Blue irides OMIM:611584
Autosomal Recessive Cutis Laxa Type 2A
Congenital hip dislocation, Abnormal cornea morphology, Persistent open anterior fontanelle, Dela... ORPHA:357058
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Focal segmental glomerulosclerosis, Cataract, Micrognathia, Death in childhood, Microphthalmia, N... OMIM:301108
Langer Mesomelic Dysplasia
Ulnar deviation of finger, Abnormal epiphysis morphology, Micromelia, Aplasia/Hypoplasia of the f... ORPHA:2632
Trisomy 12P
Aplasia/Hypoplasia of the iris, Aplasia/Hypoplasia affecting the eye ORPHA:1699
WAGR 11p13 deletion syndrome
Aniridia DECIPHER:35
Bilateral Frontoparietal Polymicrogyria
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Hypoplasia of the brainstem, Cerebellar dys... ORPHA:101070
Seckel Syndrome 1
Elbow flexion contracture, Abnormally large globe, Hypospadias, Enamel hypoplasia OMIM:210600
Cutis Laxa, Autosomal Recessive, Type Iiia
Congenital hip dislocation, Cataract, Umbilical hernia, Large fontanelles, Wide cranial sutures, ... OMIM:219150
Spondyloepimetaphyseal Dysplasia With Joint Laxity, Type 3
Thin ribs, Multiple joint dislocation, Short femoral neck, Knee dislocation, Carpal bone hypoplas... OMIM:618395
Bent Bone Dysplasia Syndrome 1
Abnormally large globe OMIM:614592
Ulna Metaphyseal Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Abnormal morphology of ulna, Neph... ORPHA:1837
Chromosome 11P13 Deletion Syndrome, Distal
Aniridia OMIM:616902
Mesomelic Dwarfism, Reinhardt-Pfeiffer Type
Ulnar deviation of finger, Synostosis of carpal bones, Micromelia, Elbow dislocation, Abnormal ti... ORPHA:2634
Combined Immunodeficiency Due To Crac Channel Dysfunction
Hypoplasia of the iris ORPHA:169090
Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome
Renal hypoplasia, Finger syndactyly, Aplasia of the proximal phalanges of the hand, Micrognathia,... ORPHA:2256
X-Linked Cerebral-Cerebellar-Coloboma Syndrome
Cerebellar vermis hypoplasia, Chorioretinal coloboma, Abnormal brainstem morphology, Hydrocephalu... ORPHA:163961
Lethal Faciocardiomelic Dysplasia
Short 5th finger, Microretrognathia, Short tibia, Short thumb, Sandal gap, Radial club hand, Bila... ORPHA:1972
Vacterl Association, X-Linked, With Or Without Hydrocephalus
Short humerus, Neonatal death, Hydronephrosis, Hand polydactyly, Urethral atresia, Absent radius,... OMIM:314390
Axenfeld-Rieger Syndrome, Type 2
Glaucoma, Microcornea, Umbilical hernia, Inguinal hernia, Opacification of the corneal stroma, Hy... OMIM:601499
Cutis Laxa, Autosomal Recessive, Type Iiib
Cataract, Glaucoma, Elbow flexion contracture, Inguinal hernia, Flexion contracture, Developmenta... OMIM:614438
Proteasome-Associated Autoinflammatory Syndrome 1
Hypoplastic scapulae, Finger swelling, Camptodactyly of finger, Clubbing of fingers, Elbow flexio... OMIM:256040
Anauxetic Dysplasia 3
Broad middle phalanx of finger, Metaphyseal cupping, Narrow chest, High anterior hairline, Sparse... OMIM:618853
Norrie Disease
Cataract, Optic atrophy, Glaucoma, Ectopia lentis, Hypoplasia of the iris, Abnormal pupil morphol... ORPHA:649
Gomez-Lopez-Hernandez Syndrome
Self-injurious behavior, Alopecia, Wormian bones, Hyperactivity, Craniosynostosis, Opacification ... OMIM:601853
Ichthyosis, Congenital, Autosomal Recessive 11
Corneal opacity OMIM:602400
Craniometadiaphyseal Dysplasia
Wide anterior fontanel, Abnormally large globe, Absent paranasal sinuses, Flared metaphysis, Broa... OMIM:269300
Wound Botulism
Cardiac arrest, Mydriasis, Urinary retention ORPHA:178475
Coloboma, Ocular, Autosomal Recessive
Cataract, Optic disc coloboma, Retinal coloboma, Lens subluxation, Iris coloboma OMIM:216820
Ulnar Hypoplasia With Impaired Intellectual Development
Talipes equinovarus, Limitation of knee mobility, Bilateral ulnar hypoplasia, Limited elbow movement OMIM:276821
Aniridia-Cerebellar Ataxia-Intellectual Disability Syndrome
Aniridia ORPHA:1065
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome
Iris coloboma ORPHA:139450
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome
Optic atrophy, Microphthalmia ORPHA:1574
Miller Fisher Syndrome
Mydriasis, Anisocoria, Facial palsy ORPHA:98919
Moebius Syndrome
Hand clenching, Abnormal pelvic girdle bone morphology, Clinodactyly, Radial deviation of finger,... OMIM:157900
Chondrodysplasia Punctata 2, X-Linked Dominant
Cataract, Abnormal pelvic girdle bone morphology, Rhizomelia, Sparse eyebrow, Hemiatrophy, Stippl... OMIM:302960
Lethal Kniest-Like Dysplasia
Hypoplastic ilia, Narrow chest, Flared metaphysis, Broad long bones, Abnormal cartilage morpholog... ORPHA:2347
Radial-Renal Syndrome
Unilateral renal agenesis, Absent thumb, Ectopic kidney, Absent radius OMIM:179280
Collagenoma, Familial Cutaneous
Vasculitis, Cardiomyopathy, Congestive heart failure, Tricuspid regurgitation, Right ventricular ... OMIM:115250
Retinitis Pigmentosa 46
Posterior subcapsular cataract, Pigmentary retinopathy, Attenuation of retinal blood vessels, Rod... OMIM:612572
Galactosialidosis
Conjunctival telangiectasia, Opacification of the corneal stroma, Cherry red spot of the macula OMIM:256540
Marfan Syndrome
Aortic regurgitation, Glaucoma, Increased axial length of the globe, Ectopia lentis, Hypoplasia o... ORPHA:558
Thanatophoric Dysplasia, Glasgow Variant
Cataract, Micromelia, Neonatal death OMIM:273680
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome
Proteinuria, Mucopolysacchariduria, Nephrotic syndrome, Opacification of the corneal stroma OMIM:215250
Joubert Syndrome 7
Brainstem dysplasia, Encephalocele, Molar tooth sign on MRI, Hypoplasia of the brainstem OMIM:611560
Cleidocranial Dysplasia 2
Short distal phalanx of finger, Aplastic clavicle, Broad thumb, Genu valgum, Delayed pubic bone o... OMIM:620099
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Oligosacchariduria, Congestive heart failure, Keratan sulfate excretion in ... ORPHA:423461
Superficial Siderosis
Cerebellar atrophy, Abnormality of the vestibulocochlear nerve, Abnormality of the brachial nerve... ORPHA:247245
Atelosteogenesis Type Iii
Thoracolumbar kyphosis, Hand clenching, Absent humerus, Short tibia, Thoracic hypoplasia, Elbow d... ORPHA:56305
20P13 Microdeletion Syndrome
Highly arched eyebrow, Microcornea, Finger syndactyly, Clinodactyly, Polydactyly, Brachydactyly, ... ORPHA:313781
Generalized Eruptive Keratoacanthoma
Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca ORPHA:411777
Fgfr2-Related Bent Bone Dysplasia
Incomplete ossification of pubis, Coronal craniosynostosis, Megalocornea, Steep acetabular roof, ... ORPHA:313855
Radial Hemimelia
Aplasia/Hypoplasia of the radius, Deviation of the hand or of fingers of the hand, Abnormality of... ORPHA:93321
Histiocytoid Cardiomyopathy
Junctional ectopic tachycardia, Optic atrophy, Atrioventricular block, Atrial flutter, Megalocorn... ORPHA:137675
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1
Aganglionic megacolon, Abnormally large globe OMIM:239300
Amyotrophic Lateral Sclerosis 20
Amyotrophic lateral sclerosis OMIM:615426
Oculocerebrocutaneous Syndrome
Anophthalmia, Agenesis of corpus callosum, Orbital encephalocele, Microphthalmia, Dandy-Walker ma... OMIM:164180
Warburg Micro Syndrome 3
Cataract, Microcornea, Hypertrichosis, Micrognathia, Ankle clonus, Low anterior hairline, Develop... OMIM:614222
Kapur-Toriello Syndrome
Cataract, Joint contracture of the hand, Short thumb, Camptodactyly of finger, Overlapping finger... OMIM:244300
Toxin-Mediated Infectious Botulism
Mydriasis ORPHA:230800
Maternal Uniparental Disomy Of Chromosome 1
Cataract, Epiphyseal stippling, Single transverse palmar crease, Talipes, Abnormal limb bone morp... ORPHA:251009
Aortic Aneurysm, Familial Thoracic 6
Iris flocculi OMIM:611788
Tyrosinemia Type 2
Corneal opacity ORPHA:28378
Skeletal Defects, Genital Hypoplasia, And Impaired Intellectual Development
Aplasia/Hypoplasia of the radius, Absent thumb, Short tibia, Fibular hypoplasia, Supernumerary ri... OMIM:612447
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Micrognathia, Microphthalmia, Iris transillumination defect, Clinodactyly ... OMIM:617306
Mosaic Trisomy 1
Hand clenching, Toe syndactyly, Broad 2nd toe, Arachnodactyly, 2-3 finger syndactyly, Broad toe, ... ORPHA:1692
Craniometadiaphyseal Dysplasia, Wormian Bone Type
Broad femoral neck, Abnormal diaphysis morphology, Overtubulated long bones, Short tubular bones ... ORPHA:85184
Spondyloepimetaphyseal Dysplasia, X-Linked, With Hypomyelinating Leukodystrophy
Thin ribs, Hypoplasia of the odontoid process, Broad foot, Anterior rib cupping, Flattened epiphy... OMIM:300232
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Broad foot, Pes planus, ... ORPHA:93357
Ulnar Hypoplasia
Radial bowing, Radial dysplasia, Hypoplasia of the ulna, Hypoplasia of the radius, Ulnar deviatio... OMIM:191440
Joubert Syndrome 37
Cerebellar vermis hypoplasia, Molar tooth sign on MRI, Microphthalmia OMIM:619185
Bartsocas-Papas Syndrome
Popliteal pterygium, Corneal opacity ORPHA:1234
Retinitis Pigmentosa 86
Nummular pigmentation of the fundus, Attenuation of retinal blood vessels, Cystoid macular edema,... OMIM:618613
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly
Talipes equinovarus, Polycystic kidney dysplasia, Cone-shaped epiphysis, Thoracic hypoplasia, Fem... OMIM:613091
Multiple Sulfatase Deficiency
Mucopolysacchariduria, Peripheral demyelination, Retinal degeneration, Corneal opacity OMIM:272200
Biemond Syndrome Type 2
Hydrocephalus, Microphthalmia ORPHA:141333
Thalidomide Embryopathy
Preaxial hand polydactyly, Radial club hand, Aplasia/hypoplasia of the humerus, Aplasia/Hypoplasi... ORPHA:3312
Insulin-Like Growth Factor I, Resistance To
Rieger anomaly OMIM:270450
Microphthalmia, Syndromic 5
Cataract, Microcornea, Anophthalmia, Microphthalmia, Micropenis, Retinal dystrophy, Optic nerve h... OMIM:610125
Primary Lateral Sclerosis
Abnormal upper motor neuron morphology, Cervical spinal cord atrophy, Atrophy of the spinal cord ORPHA:35689
Cenani-Lenz Syndactyly Syndrome
Renal hypoplasia, Broad hallux, Micrognathia, Radioulnar synostosis, Hypoplasia of the radius, Hy... OMIM:212780
Multiple Epiphyseal Dysplasia Type 4
Hypoplastic cervical vertebrae, Radial bowing, Premature osteoarthritis, Dislocation of the femor... ORPHA:93307
Melnick-Needles Syndrome
Short distal phalanx of finger, Hip dislocation, Narrow chest, Abnormal rib morphology, Delayed c... ORPHA:2484
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies
Highly arched eyebrow, Tibial torsion, Delayed cranial suture closure, Supernumerary nipple, Over... OMIM:618653
Refsum Disease
Cataract, Abnormal epiphysis morphology, Abnormal foot morphology, Pes cavus, Renal insufficiency... ORPHA:773
Dihydropyrimidine Dehydrogenase Deficiency
Microphthalmia, Optic atrophy, Agenesis of corpus callosum OMIM:274270
Retinitis Pigmentosa 25
Posterior subcapsular cataract, Attenuation of retinal blood vessels, Chorioretinal atrophy, Bone... OMIM:602772
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia
Thin ribs, Metaphyseal cupping of metacarpals, Metaphyseal cupping, Rhizomelia, Distal shortening... OMIM:300863
Cerebrooculofacioskeletal Syndrome 4
Slender long bone, Flared metaphysis, Camptodactyly of finger, Elbow flexion contracture, Bilater... OMIM:610758
Methylmalonate Semialdehyde Dehydrogenase Deficiency
Elevated urinary 3-hydroxyisobutyric acid level, Cataract, Elevated urinary 3-hydroxybutyric acid... OMIM:614105
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type
Corneal crystals, Retinal pigment epithelial mottling, Stage 5 chronic kidney disease, Retinopath... OMIM:219900
Coffin-Siris Syndrome 1
Facial hypertrichosis, Dry hair, Sparse scalp hair, Aplasia/Hypoplasia of the patella, Dislocated... OMIM:135900
Cystinosis, Adult Nonnephropathic
Corneal crystals, Abnormal retinal morphology OMIM:219750
Oligoarticular Juvenile Idiopathic Arthritis
Cataract, Glaucoma, Band keratopathy, Anterior chamber synechiae, Uveitis ORPHA:85410
Mmep Syndrome
Triphalangeal thumb, Split foot, Microphthalmia ORPHA:3434
Robin Sequence-Oligodactyly Syndrome
Finger aplasia, Micrognathia, Abnormal morphology of ulna, Abnormal metacarpal morphology, Clinod... ORPHA:3104
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Ureteral stenosis, Ocular albinism, Inguinal hernia, Choroiderem... ORPHA:2719
2Q31.1 Microdeletion Syndrome
Toe syndactyly, Finger syndactyly, Abnormal tibia morphology, Abnormal hair morphology, Micrognat... ORPHA:251014
Achondroplasia
Thoracolumbar kyphosis, Hip joint hypermobility, Rhizomelia, Thoracic hypoplasia, Trident hand, L... ORPHA:15
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type
Thin ribs, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality of the calcaneus, Hypoplas... ORPHA:163966
Primary Lateral Sclerosis, Juvenile
Abnormal upper motor neuron morphology OMIM:606353
Fanconi Anemia, Complementation Group I
Renal hypoplasia, Optic nerve hypoplasia, Absent thumb, Short thumb, Short 1st metacarpal, Horses... OMIM:609053
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Arthrogryposis multiplex congenita, Vesicoureteral reflux, Astigmatism, Hydronephrosis, Corneal o... OMIM:301056
Bruck Syndrome 2
Pectus carinatum, Hydroxyprolinuria, Pterygium, Elbow flexion contracture, Femoral bowing, Knee f... OMIM:609220
Peroxisome Biogenesis Disorder 2A (Zellweger)
Aminoaciduria, Cataract, Pigmentary retinopathy, Joint contracture of the hand, Opacification of ... OMIM:214110
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos OMIM:613703
Spondylo-Ocular Syndrome
Iris hypopigmentation, Cataract, Abnormal eyebrow morphology, Low posterior hairline, Pes planus,... ORPHA:85194
Fibular Aplasia-Complex Brachydactyly Syndrome
Abnormal epiphysis morphology, Synostosis of carpal bones, Micromelia, Abnormal tibia morphology,... ORPHA:2639
Joubert Syndrome 3
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Lateral ventricle dilatatio... OMIM:608629
Joubert Syndrome 28
Optic disc pallor, Molar tooth sign on MRI OMIM:617121
Lymphedema-Distichiasis Syndrome
Cataract, Proteinuria, Arrhythmia, Tubulointerstitial nephritis, Conjunctivitis, Corneal erosion ORPHA:33001
Tangier Disease
Peripheral demyelination, Facial diplegia, Peripheral axonal neuropathy, Opacification of the cor... OMIM:205400
Acrofacial Dysostosis 1, Nager Type
Toe syndactyly, Clinodactyly, Overlapping toe, Micrognathia, Radioulnar synostosis, Aplasia/Hypop... OMIM:154400
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome
Hydronephrosis, Abnormally large globe, Micropenis, Inguinal hernia ORPHA:1655
Congenital Fibrosis Of Extraocular Muscles
Cataract, Anisocoria, Abnormal pupil shape, Optic nerve hypoplasia ORPHA:45358
Premature Aging Syndrome, Penttinen Type
Thin ribs, Short distal phalanx of finger, Sparse hair, Slender long bone, Cervical ribs, Delayed... OMIM:601812
Nanophthalmos 4
Optic disc drusen, Microphthalmia OMIM:615972
Microphthalmia With Limb Anomalies
Toe syndactyly, Postaxial foot polydactyly, Anophthalmia, Talipes equinovarus, Microphthalmia, 2-... OMIM:206920
Bietti Crystalline Corneoretinal Dystrophy
Marginal corneal dystrophy, Corneal crystals, Chorioretinal atrophy, Retinal degeneration OMIM:210370
Joubert Syndrome 1
Cerebellar vermis hypoplasia, Dysgenesis of the cerebellar vermis, Optic disc coloboma, Hypoplasi... OMIM:213300
Dural Sinus Malformation
Glaucoma, Subdural hemorrhage, Ocular hypertension, Chemosis, Subarachnoid hemorrhage, Cerebellar... ORPHA:97339
Okamoto Syndrome
Aortic valve stenosis, Abnormally large globe, Unilateral renal hypoplasia, Ureteropelvic junctio... ORPHA:2729
Musculocontractural Ehlers-Danlos Syndrome
Glaucoma, Functional abnormality of the bladder, Horseshoe kidney, Atrophic scars, Astigmatism, I... ORPHA:2953
Fucosidosis
Mucopolysacchariduria, Lipoatrophy, Corneal opacity ORPHA:349
Warburg Micro Syndrome 4
Optic atrophy, Microcornea, Decreased motor nerve conduction velocity, Cerebellar atrophy, Develo... OMIM:615663
Oculocerebrocutaneous Syndrome
Iris coloboma, Congenital diaphragmatic hernia, Corneal opacity ORPHA:1647
Potocki-Shaffer Syndrome
Sparse lateral eyebrow, Single transverse palmar crease, Wormian bones, 2-5 finger cutaneous synd... OMIM:601224
D-Lactic Aciduria With Gout
Aniridia OMIM:245450
Acromelic Frontonasal Dysplasia
Aplasia/Hypoplasia of the tibia, Patellar hypoplasia, Preaxial foot polydactyly, Large fontanelle... ORPHA:1827
Short-Rib Thoracic Dysplasia 1 With Or Without Polydactyly
Chronic kidney disease, Hypoplastic iliac wing, Foot polydactyly, Cone-shaped epiphyses of the ph... OMIM:208500
Angioosteohypotrophic Syndrome
Upper limb undergrowth, Abnormal foot morphology, Aplasia/hypoplasia involving bones of the upper... ORPHA:75508
Dubowitz Syndrome
Microphthalmia, Hypoplasia of the iris, Iris coloboma, Megalocornea OMIM:223370
Microphthalmia, Isolated 4
Postaxial polydactyly, Microphthalmia OMIM:613094
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Narrow chest, Short tibia, Large posterior fontanelle, Preaxial polydactyly, Micrognathia, Microp... OMIM:617925
Botulism
Mydriasis, Urinary retention, Arrhythmia ORPHA:1267
Cerebellar-Facial-Dental Syndrome
Abnormal midbrain morphology, Cataract, Inferior cerebellar vermis hypoplasia, Hypoplasia of the ... ORPHA:444072
Isolated Congenital Alacrima
Conjunctivitis, Keratitis, Corneal erosion ORPHA:91416
Fanconi Anemia, Complementation Group U
Absent thumb, Hypoplasia of the radius, Absent radius, Absent scaphoid, Ectopic kidney, Aplasia o... OMIM:617247
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Aortic valve stenosis, Cataract, Glaucoma, Keloids, Corneal scarring, Vesicoureteral reflux, Card... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Aortic valve stenosis, Cataract, Glaucoma, Keloids, Corneal scarring, Vesicoureteral reflux, Card... ORPHA:353277
Retinoblastoma
Cellulitis, Glaucoma, Hypopyon, Hyphema, Subretinal pigment epithelium hemorrhage, Retinoblastoma... ORPHA:790
Osteopathia Striata-Cranial Sclerosis Syndrome
Asymmetry of the thorax, Cataract, High iliac wing, Coarse metaphyseal trabecularization, Delayed... ORPHA:2780
Inhalational Botulism
Mydriasis, Urinary retention ORPHA:254504
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies
Microphthalmia OMIM:251700
Ivic Syndrome
Absent thumb, Short 1st metacarpal, Short thumb, Carpal synostosis, Preaxial polydactyly, Upper l... OMIM:147750
Revesz Syndrome
Leukocoria, Exudative retinopathy, Megalocornea OMIM:268130
Otopalatodigital Syndrome, Type I
Toe syndactyly, Synostosis of carpal bones, Absent frontal sinuses, Short hallux, Dislocated radi... OMIM:311300
Vacterl With Hydrocephalus
Microcornea, Anophthalmia, Hydrocephalus, Spina bifida, Microphthalmia, Aqueductal stenosis ORPHA:3412
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Short tibia, Bell-shaped thorax, Encephalocele, Microphthalmia, Flat acetabular roof, Sparse eyeb... OMIM:616300
Linear Skin Defects With Multiple Congenital Anomalies 3
Dilated cardiomyopathy, Histiocytoid cardiomyopathy, Ventricular tachycardia, Microphthalmia, Scl... OMIM:300952
Hartsfield Syndrome
Aplasia/Hypoplasia of the radius, Encephalocele, Split hand, Microphthalmia, Craniosynostosis ORPHA:2117
Congenital Disorder Of Glycosylation, Type Iq
Optic atrophy, Cerebellar vermis hypoplasia, Cataract, Microphthalmia OMIM:612379
Acromesomelic Dysplasia 3
Aplasia of the proximal phalanx of the 2nd finger, Widened proximal tibial metaphyses, Short 1st ... OMIM:609441
Linear Skin Defects With Multiple Congenital Anomalies 1
Junctional ectopic tachycardia, Cataract, Pigmentary retinopathy, Hypospadias, Peters anomaly, Co... OMIM:309801
Neurooculocardiogenitourinary Syndrome
Tricuspid regurgitation, Abnormal cerebellum morphology, Peters anomaly, Microphthalmia OMIM:618652
Neurofacioskeletal Syndrome With Or Without Renal Agenesis
Hypoplasia of the iris, Posterior embryotoxon, Anterior polar cataract, Agenesis of corpus callosum OMIM:619194
Focal Segmental Glomerulosclerosis 10
Focal segmental glomerulosclerosis, Minimal change glomerulonephritis, Stage 5 chronic kidney dis... OMIM:256020
Joubert Syndrome 31
Molar tooth sign on MRI OMIM:617761
Alkuraya-Kucinskas Syndrome
Cataract, Hypoplasia of the brainstem, Cerebellar dysplasia, Cerebellar hypoplasia, Hydrocephalus... OMIM:617822
Femur-Fibula-Ulna Complex
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Abnormal femur morphology, Humer... ORPHA:2019
Ulnar Hypoplasia-Split Foot Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Hypoplasia of the ulna, Split foot ORPHA:1122
Steinfeld Syndrome
Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Hypoplasia of the radius, ... OMIM:184705
Mucopolysaccharidosis Type 1
Optic atrophy, Glaucoma, Congestive heart failure, Hypertrophic cardiomyopathy, Retinopathy, Ingu... ORPHA:579
Radial Aplasia, X-Linked
Penile hypospadias, Absent radius OMIM:312190
Warburg Micro Syndrome 2
Cataract, Microcornea, Overlapping toe, Low anterior hairline, Clinodactyly of the 5th toe, Devel... OMIM:614225
Acrorenal Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Micrognathia, Renal insufficiency, A... ORPHA:971
Frontorhiny
Cranium bifidum occultum, Cataract, Finger clinodactyly, Camptodactyly of finger, Encephalocele, ... ORPHA:391474
Nance-Horan Syndrome
Posterior Y-sutural cataract, Microcornea, Developmental cataract, Microphthalmia, Short phalanx ... OMIM:302350
Linear Verrucous Nevus Syndrome
Cataract, Abnormal cornea morphology, Aplasia/Hypoplasia of the fovea, Iris coloboma, Dandy-Walke... ORPHA:2611
Coach Syndrome 1
Cerebellar vermis hypoplasia, Occipital encephalocele, Portal hypertension, Encephalocele, Hypert... OMIM:216360
Intellectual Developmental Disorder And Retinitis Pigmentosa
Posterior subcapsular cataract, Macular degeneration, Attenuation of retinal blood vessels, Perip... OMIM:618195
Hurler Syndrome
Aortic regurgitation, Glaucoma, Cardiomyopathy, Umbilical hernia, Heparan sulfate excretion in ur... OMIM:607014
Foodborne Botulism
Mydriasis, Urinary retention, Arrhythmia ORPHA:228371
1Q21.1 Microdeletion Syndrome
Cataract, Broad thumb, Toe syndactyly, Clinodactyly of the 5th finger, Vesicoureteral reflux, Hyd... ORPHA:250989
Multiple Osteochondromas
Rib exostoses, Abnormal tibia morphology, Abnormal hand morphology, Genu valgum, Bowing of the lo... ORPHA:321
Cohen Syndrome
Finger syndactyly, Sandal gap, Abnormal hip bone morphology, Genu valgum, Micrognathia, Long eyel... ORPHA:193
Trichinellosis
Abnormal optic nerve morphology, Central retinal artery occlusion, Conjunctival hyperemia, Facial... ORPHA:863
Adult Krabbe Disease
Abnormal midbrain morphology, Abnormal medulla oblongata morphology, Delayed brainstem auditory e... ORPHA:206448
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome
Cataract, Microphthalmia ORPHA:363741
Joubert Syndrome 35
Cerebellar vermis hypoplasia, Elongated superior cerebellar peduncle, Molar tooth sign on MRI OMIM:618161
Mucopolysaccharidosis Type 7
Umbilical hernia, Mucopolysacchariduria, Inguinal hernia, Corneal opacity ORPHA:584
Mesomelic Dysplasia, Savarirayan Type
High iliac wing, Elbow dislocation, Hypoplasia of proximal radius, Fibular aplasia, Glenoid fossa... ORPHA:85170
Garg-Mishra Progeroid Syndrome
Thin ribs, Narrow chest, Slender long bone, Persistent open anterior fontanelle, Slender metacarp... OMIM:620601
Nephroblastoma
Aniridia, Hypertension ORPHA:654
Sifrim-Hitz-Weiss Syndrome
Renal insufficiency, Astigmatism, Vesicoureteral reflux, Short clavicles, Wormian bones, Fused ce... OMIM:617159
Osteogenesis Imperfecta, Type Ii
Thin ribs, Abnormal pelvic girdle bone morphology, Thoracic hypoplasia, Broad long bones, Bell-sh... OMIM:166210
Primary Pulmonary Hypoplasia
Micrognathia, Ureteral stenosis, Patellar hypoplasia ORPHA:2257
Mesomelic Dysplasia, Nievergelt Type
Aplasia/Hypoplasia of the radius, Finger syndactyly, Micromelia, Camptodactyly of finger, Abnorma... ORPHA:2633
Schwartz-Jampel Syndrome
Elbow dislocation, Abnormality of the ureter, Genu valgum, Micrognathia, Hip contracture, Bowing ... ORPHA:800
Congenital Arthrogryposis With Anterior Horn Cell Disease
Paucity of anterior horn motor neurons, Abnormal anterior horn cell morphology OMIM:611890
Summitt Syndrome
Finger syndactyly, Camptodactyly of finger, Genu valgum, Short 4th metacarpal, Brachydactyly, Cli... ORPHA:3210
Ataxia-Intellectual Disability-Oculomotor Apraxia-Cerebellar Cysts Syndrome
Inferior cerebellar vermis hypoplasia, Abnormal brainstem morphology, Dilated fourth ventricle, C... ORPHA:370022
Weismann-Netter Syndrome
Aplasia/Hypoplasia of the radius, Abnormal tibia morphology, Abnormal hip bone morphology, Abnorm... ORPHA:3344
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type
Clinodactyly of the 2nd finger, Micrognathia, Pes planus, Diaphyseal undertubulation, Patellar di... OMIM:620663
Meckel Syndrome, Type 8
Narrow chest, Occipital encephalocele, Encephalocele, Anophthalmia, Polydactyly, Talipes equinova... OMIM:613885
Phace Syndrome
Retinal vascular malformation, Cataract, Glaucoma, Heterochromia iridis, Microphthalmia, Scleroco... ORPHA:42775
Slc35A2-Cdg
Abnormal midbrain morphology, Cerebellar atrophy, Lateral ventricle dilatation, Atrophy/Degenerat... ORPHA:356961
Basal Cell Nevus Syndrome 1
Cataract, Palmar pits, Short distal phalanx of the thumb, Plantar pits, Abnormal sternum morpholo... OMIM:109400
Frontometaphyseal Dysplasia
Joint contracture of the hand, Short distal phalanx of the thumb, Broad thumb, Micrognathia, Limi... ORPHA:1826
Adams-Oliver Syndrome
Cataract, Short distal phalanx of finger, Alopecia, Finger syndactyly, Absent hand, Encephalocele... ORPHA:974
Acrofrontofacionasal Dysostosis 1
Short distal phalanx of finger, Broad thumb, Long eyebrows, Long eyelashes, Widow's peak, Acetabu... OMIM:201180
Isolated Split Hand-Split Foot Malformation
Aniridia ORPHA:2440
Dubowitz Syndrome
Small hand, Toe syndactyly, Broad thumb, Delayed cranial suture closure, Micrognathia, Aplasia/Hy... ORPHA:235
Incontinentia Pigmenti
Cataract, Keratitis, Congestive heart failure, Camptodactyly of finger, Umbilical hernia, Abnorma... ORPHA:464
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum
Broad clavicles, Carpal osteolysis, Pterygium, Abnormal hand morphology, Osteolysis involving tar... ORPHA:371428
Charcot-Marie-Tooth Disease Type 4C
Optic atrophy, Facial paralysis, Abnormal optic nerve morphology, Decreased motor nerve conductio... ORPHA:99949
Osteogenesis Imperfecta, Type Iii
Thin ribs, Slender long bone, Protrusio acetabuli, Micrognathia, Tibial bowing, Wormian bones, Wi... OMIM:259420
Joubert Syndrome 33
Molar tooth sign on MRI OMIM:617767
ERI1-related disease
Micrognathia, Pes planus, Patellar dislocation, Finger joint hypermobility, Dislocated radial hea... OMIM:608739
Schimke Immuno-Osseous Dysplasia
Nephropathy, Minimal change glomerulonephritis, Focal segmental glomerulosclerosis, Congestive he... ORPHA:1830
Joubert Syndrome 10
Cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:300804
Premature Ovarian Failure 12
Microphthalmia OMIM:616947
Schimmelpenning-Feuerstein-Mims Syndrome
Horseshoe kidney, Hyperphosphaturia, Corneal opacity OMIM:163200
Baraitser-Winter Syndrome 1
Highly arched eyebrow, Chorioretinal coloboma, Low posterior hairline, Duplication of phalanx of ... OMIM:243310
Cortical Dysplasia, Complex, With Other Brain Malformations 12
Death in childhood, Astigmatism, Clinodactyly, Prominent metopic ridge OMIM:620316
Desbuquois Dysplasia 1
Developmental glaucoma OMIM:251450
Infant Botulism
Hypotension, Mydriasis, Keratoconjunctivitis sicca, Cardiac arrest, Hypertension ORPHA:178478
Brachydactyly-Elbow Wrist Dysplasia Syndrome
Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, Elbow dislocation, Abnormal distal ... ORPHA:1275
Spondyloepiphyseal Dysplasia, Maroteaux Type
Mucopolysacchariduria, Opacification of the corneal stroma OMIM:184095
Joubert Syndrome 20
Molar tooth sign on MRI OMIM:614970
Mesomelic Dysplasia, Savarirayan Type
Short forearm, Short tibia, Abnormal foot morphology, Talipes equinovalgus, Mesomelic leg shorten... OMIM:605274
Retinitis Pigmentosa 56
Posterior subcapsular cataract, Nuclear cataract, Pigmentary retinopathy, Attenuation of retinal ... OMIM:613581
Say-Barber-Miller Syndrome
Highly arched eyebrow, Sparse eyebrow, Patellar hypoplasia, Talipes equinovalgus, Ulnar deviation... ORPHA:3132
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Broad thumb, Overlapping toe, Micrognathia, Pes planus, Broad phalanx, Microphthalmia, Hypospadia... ORPHA:508498
Mend Syndrome
Cataract, Broad hallux, Overlapping toe, Overlapping fingers, Micrognathia, 2-3 toe syndactyly, A... ORPHA:401973
Hurler Syndrome
Abnormal nerve conduction velocity, Glaucoma, Cardiomyopathy, Camptodactyly of finger, Retinopath... ORPHA:93473
Distal Deletion 10Q
Clinodactyly, Micrognathia, Pes planus, Hip dislocation, Acute kidney injury, Prominent fingertip... ORPHA:96148
Boomerang Dysplasia
Narrow chest, Finger syndactyly, Micromelia, Abnormal tibia morphology, Abnormal femur morphology... ORPHA:1263
Grant Syndrome
Wormian bones, Micrognathia, Tibial bowing, Down-sloping shoulders OMIM:138930
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:105550
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine... OMIM:253010
Microphthalmia, Syndromic 1
Joint contracture of the hand, Clinodactyly, Chorioretinal coloboma, Anophthalmia, Microphthalmia... OMIM:309800
Saethre-Chotzen Syndrome
Buphthalmos OMIM:101400
Spondylometaphyseal Dysplasia, Pagnamenta Type
Rhizomelia, Broad thumb, Short 5th metacarpal, Femoral bowing, Short 4th metacarpal, Wormian bone... OMIM:619638
Lethal Osteosclerotic Bone Dysplasia
Micrognathia, Large fontanelles, Mandibular aplasia, Delayed cranial suture closure ORPHA:1832
Robinow Syndrome, Autosomal Recessive 1
Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, Delayed crania... OMIM:268310
Acrofacial Dysostosis Syndrome Of Rodriguez
Absent forearm, Short tibia, Clinodactyly, Oligodactyly, Overlapping toe, Micrognathia, 11 pairs ... OMIM:201170
Marden-Walker Syndrome
Renal hypoplasia, Joint contracture of the hand, Abnormal sternum morphology, Micrognathia, Arach... OMIM:248700
Microphthalmia With Limb Anomalies
Synostosis of joints, Toe syndactyly, Synostosis of carpal bones, Finger syndactyly, Postaxial fo... ORPHA:1106
Mucopolysaccharidosis Type 4
Abnormal dental enamel morphology, Grayish enamel, Hernia, Mucopolysacchariduria, Corneal opacity ORPHA:582
Dyssegmental Dysplasia, Silverman-Handmaker Type
Cataract, Occipital encephalocele, Thoracic hypoplasia, Micromelia, Pterygium, Micrognathia, Neon... OMIM:224410
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Claw hand deformity, Mucopolysacchariduria, Finger j... OMIM:252605
3Q29 Microdeletion Syndrome
Cataract, Pectus carinatum, Hypospadias, Horseshoe kidney, Aggressive behavior, Attention deficit... ORPHA:65286
Desbuquois Dysplasia 2
Epiphyseal dysplasia, Broad thumb, Broad foot, Pes planus, Radial head subluxation, Advanced ossi... OMIM:615777
Ocular Cystinosis
Corneal crystals ORPHA:411641
Basel-Vanagaite-Smirin-Yosef Syndrome
Clinodactyly, Finger syndactyly, Male urethral meatus stenosis, Overlapping toe, Overlapping fing... ORPHA:464738
Osteogenesis Imperfecta, Type V
Abnormal pelvic girdle bone morphology, Anterior radial head dislocation, Wormian bones, Limited ... OMIM:610967
Holoprosencephaly 7
Alobar holoprosencephaly, Semilobar holoprosencephaly, Bilateral microphthalmos, Hypoplasia of th... OMIM:610828
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency
Horizontal eyebrow, Clinodactyly, Bilateral microphthalmos, Umbilical hernia, Abnormal foot morph... ORPHA:369891
Fanconi Anemia, Complementation Group B
Bilateral radial aplasia, Absent thumb, Optic disc hypoplasia, Death in infancy, Micropenis OMIM:300514
Congenital Toxoplasmosis
Hydrocephalus, Microphthalmia ORPHA:858
Fanconi Anemia, Complementation Group E
Absent thumb, Short thumb, Horseshoe kidney, Absent radius, Microphthalmia, Ectopic kidney, Compl... OMIM:600901
Sanjad-Sakati Syndrome
Abnormal dental enamel morphology, Hypoplasia of penis, Astigmatism, Corneal opacity ORPHA:2323
Noonan Syndrome 13
Clinodactyly, Overlapping toe, Micrognathia, Low posterior hairline, Generalized hirsutism, Pes p... OMIM:619087
Acrocallosal Syndrome
Abnormal clavicle morphology, Triphalangeal thumb, Postaxial hand polydactyly, Hypospadias, Wide ... ORPHA:36
Fryns Syndrome
Multicystic kidney dysplasia, Vesicoureteral reflux, Congenital diaphragmatic hernia, Hydronephro... ORPHA:2059
Arachnoid Cyst
Mydriasis, Chiari malformation, Cranial nerve compression, Abnormal cerebellum morphology, Enceph... ORPHA:2356
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia
Cerebellar vermis hypoplasia, Optic disc hypoplasia, Hypoplasia of the brainstem, Dilated fourth ... OMIM:619306
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome
Ectrodactyly, Radial club hand, Abnormality of the wrist, Asymmetric radial dysplasia, Ulnar bowi... ORPHA:2878
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome
Anophthalmia, Microphthalmia ORPHA:85275
3Mc Syndrome 3
Horseshoe kidney, Penoscrotal hypospadias, Micropenis, Corneal opacity OMIM:248340
Fabry Disease
Nephropathy, Mitral regurgitation, Hematuria, Arrhythmia, Nephrotic syndrome, Cataract, Hypertrop... ORPHA:324
Peroxisome Biogenesis Disorder 1A (Zellweger)
Micrognathia, Bell-shaped thorax, Death in childhood, Talipes equinovarus, Albuminuria, Brushfiel... OMIM:214100
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Camptodactyly, Micropenis, Microphthalmia, Sclerocornea OMIM:614230
Charge Syndrome
Unilateral microphthalmos, Micrognathia, Anophthalmia, Radial head subluxation, Absent radius, Bi... OMIM:214800
Radius, Aplasia Of, With Cleft Lip/Palate
Absent radius OMIM:179400
Distal Deletion 17Q
Small hand, Deviation of finger, Micromelia, Abnormal hip bone morphology, Abnormal thumb morphol... ORPHA:1597
Hepatic Lipase Deficiency
Angina pectoris, Corneal arcus OMIM:614025
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome
Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Synophrys ORPHA:357175
Cutis Marmorata Telangiectatica Congenita
Multicystic kidney dysplasia, Toe syndactyly, Finger syndactyly, Micrognathia, Displacement of th... ORPHA:1556
Ring Chromosome 4 Syndrome
Aplasia/Hypoplasia of the radius, Split hand, Abnormality of the upper limb, Abnormal morphology ... ORPHA:1447
Fanconi Anemia, Complementation Group L
Unilateral renal agenesis, Renal hypoplasia, Absent thumb, Hypoplastic sacrum, Micrognathia, Micr... OMIM:614083
Hallermann-Streiff Syndrome
Thin ribs, Cataract, Abnormal rib cage morphology, Decreased number of sternal ossification cente... OMIM:234100
Mosaic Trisomy 9
Micromelia, Finger clinodactyly, Camptodactyly of finger, Horseshoe kidney, Elbow dislocation, De... ORPHA:99776
Spastic Paralysis, Infantile-Onset Ascending
Abnormal lower motor neuron morphology OMIM:607225
Blomstrand Lethal Chondrodysplasia
Synostosis of joints, Cataract, Metaphyseal cupping, Aplastic clavicle, Abnormal epiphysis morpho... ORPHA:50945
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome
Hydrocephalus, Microphthalmia OMIM:602501
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Megalocornea, Tricuspid regurgitation, Umbilical hernia, Aniridia, Mitral regurgitation, Anophtha... ORPHA:1101
Fanconi Anemia, Complementation Group A
Absent thumb, Short thumb, Horseshoe kidney, Absent radius, Microphthalmia, Ectopic kidney, Compl... OMIM:227650
Idiopathic Congenital Hypothyroidism
Abnormal epiphysis morphology, Large posterior fontanelle, Delayed cranial suture closure, Umbili... ORPHA:95717
Short Stature-Wormian Bones-Dextrocardia Syndrome
Midshaft hypospadias, Camptodactyly of finger, Long eyelashes, Micrognathia, Wormian bones, Brach... ORPHA:2863
Scalp-Ear-Nipple Syndrome
Sparse hair, Cataract, Unilateral renal agenesis, Broad thumb, Renal hypoplasia, Finger syndactyl... OMIM:181270
Peroxisome Biogenesis Disorder 3A (Zellweger)
Epiphyseal stippling, Polycystic kidney dysplasia, Wide anterior fontanel OMIM:614859
Arms, Malformation Of
Radioulnar synostosis, Hypoplasia of the radius, Hypoplasia of the ulna OMIM:107900
Otodental Syndrome
Cataract, Microcornea, Microphthalmia, Lens coloboma, Iris coloboma ORPHA:2791
Apolipoprotein A-I Deficiency
Angina pectoris, Opacification of the corneal stroma ORPHA:425
Fanconi Anemia, Complementation Group D2
Absent thumb, Short thumb, Preaxial hand polydactyly, Horseshoe kidney, Microphthalmia, Partial d... OMIM:227646
Donnai-Barrow Syndrome
Umbilical hernia, Proteinuria, Iris coloboma, Widow's peak, Wide anterior fontanel ORPHA:2143
Gapo Syndrome
Sparse hair, Keratoconus, Alopecia, Sparse eyebrow, Umbilical hernia, Megalocornea, Delayed crani... OMIM:230740
Osteogenesis Imperfecta, Type Xiii
Enuresis nocturna, Pectus carinatum, Wide distal femoral metaphysis, Umbilical hernia, Long eyela... OMIM:614856
Mandibuloacral Dysplasia With Type A Lipodystrophy
Cataract, Short distal phalanx of finger, Alopecia, Breast aplasia, Abnormal eyebrow morphology, ... ORPHA:90153
Retinoblastoma
Retinoblastoma, Vitreous hemorrhage, Leukocoria, Retinal calcification, Vitritis OMIM:180200
Intellectual Developmental Disorder, Autosomal Recessive 35
Clinodactyly, Micrognathia, Hirsutism, Hypoplasia of the ulna, Synophrys OMIM:615162
Auriculoosteodysplasia
Aplasia/Hypoplasia of the radius, Abnormal clavicle morphology, Elbow dislocation, Abnormality of... ORPHA:114
Microphthalmia-Microtia-Fetal Akinesia Syndrome
Hydroureter, Camptodactyly of finger, Micrognathia, Microphthalmia, Hypoplasia of penis, Symphala... ORPHA:2547
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type
Hypoplasia of the odontoid process, Broad long bones, Micrognathia, Bell-shaped thorax, Broad pha... OMIM:271665
Coffin-Siris Syndrome 6
Clinodactyly, Micrognathia, Wormian bones, Attention deficit hyperactivity disorder, Brachydactyl... OMIM:617808
Microphthalmia, Syndromic 12
Microphthalmia, Micrognathia, Anophthalmia, Neonatal death OMIM:615524
Trisomy 18
Cataract, Microcornea, Microretrognathia, Deviation of finger, Abnormal rib morphology, Camptodac... ORPHA:3380
1Q41Q42 Microdeletion Syndrome
Abnormality iris morphology, Congenital diaphragmatic hernia ORPHA:250999
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type
Thoracic hypoplasia, Flared metaphysis, Decreased fibular diameter, Micrognathia, Short ribs, Mul... OMIM:616897
Joubert Syndrome 27
Molar tooth sign on MRI OMIM:617120
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome
Foot polydactyly, Missing ribs, Aplasia/Hypoplasia of the thumb, Hypoplasia of the radius, Hypopl... ORPHA:3186
Osteogenesis Imperfecta, Type Vii
Narrow chest, Rhizomelia, Micromelia, Delayed cranial suture closure, Bowing of the legs, Death i... OMIM:610682
Rothmund-Thomson Syndrome, Type 2
Small hand, Premature graying of hair, Micrognathia, Sparse eyelashes, Absent eyelashes, Talipes ... OMIM:268400
Proboscis Lateralis
Cataract, Microcornea, Unilateral renal agenesis, Duplication of renal pelvis, Chorioretinal colo... ORPHA:141099
3Mc Syndrome 1
Short 5th finger, Lambdoidal craniosynostosis, Coronal craniosynostosis, Highly arched eyebrow, C... OMIM:257920
Fryns Microphthalmia Syndrome
Anophthalmia, Neural tube defect, Microphthalmia OMIM:600776
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies
Cataract, Microretrognathia, Horizontal eyebrow, Overlapping toe, Astigmatism, Microphthalmia, Pe... OMIM:618571
Gorlin-Chaudhry-Moss Syndrome
Sclerocornea, Astigmatism, Umbilical hernia ORPHA:2095
Serotonin Syndrome
Hypotension, Mydriasis, Acute kidney injury, Abnormality of the autonomic nervous system, Tachyca... ORPHA:43116
Wormian Bone-Multiple Fractures-Dentinogenesis Imperfecta-Skeletal Dysplasia
Toe clinodactyly, Wormian bones, Short foot, Upper limb undergrowth ORPHA:166277
Cerebellofaciodental Syndrome
Cerebellar hypoplasia, Cataract, Hypoplasia of the pons, Hypoplasia of the midbrain OMIM:616202
Teebi Hypertelorism Syndrome 2
Thick eyebrow, Attention deficit hyperactivity disorder, Clinodactyly of the 5th finger, Hypospad... OMIM:619736
Microphthalmia, Isolated 1
Anophthalmia, Microphthalmia OMIM:251600
Focal Dermal Hypoplasia
Toe syndactyly, Midclavicular aplasia, Chorioretinal coloboma, Supernumerary nipple, Anophthalmia... OMIM:305600
Distal Duplication 5Q
Absent thumb, Chorioretinal coloboma, Micrognathia, Hypoplasia of the ulna, Hypoplasia of the rad... ORPHA:96097
Hypophosphatasia, Infantile
Metaphyseal cupping, Rachitic rosary, Nephrocalcinosis, Micromelia, Phosphoethanolaminuria, Widel... OMIM:241500
Gm1 Gangliosidosis
Optic atrophy, Cardiomyopathy, Cherry red spot of the macula, Congestive heart failure, Camptodac... ORPHA:354
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Dilated cardiomyopathy, Ventricular bigeminy, Tricuspid regurgitation, Left ventricular systolic ... OMIM:620519
Progressive Non-Fluent Aphasia
Abnormal lower motor neuron morphology ORPHA:100070
1p36 microdeletion syndrome
Delayed cranial suture closure DECIPHER:18
Boucher-Neuhauser Syndrome
Abnormal upper motor neuron morphology OMIM:215470
Wolf-Hirschhorn Syndrome
Ectopia pupillae, Micrognathia, Low posterior hairline, Radioulnar synostosis, Talipes equinovaru... OMIM:194190
Lethal Congenital Contracture Syndrome 1
Paucity of anterior horn motor neurons OMIM:253310
Congenital Fibrinogen Deficiency
Micropenis, Microphthalmia, Developmental cataract, Clubbing of fingers ORPHA:335
Xk Aprosencephaly Syndrome
Microphthalmia, Abnormal morphology of the radius ORPHA:3469
Polyglucosan Body Neuropathy, Adult Form
Abnormal upper motor neuron morphology OMIM:263570
Coach Syndrome 3
Molar tooth sign on MRI OMIM:619113
Basel-Vanagaite-Smirin-Yosef Syndrome
Cataract, Microcornea, Pectus carinatum, Single transverse palmar crease, 2-3 toe syndactyly, Hyd... OMIM:616449
Osteogenesis Imperfecta-Retinopathy-Seizures-Intellectual Disability Syndrome
Wormian bones ORPHA:2773
Autoimmune Polyendocrinopathy Type 1
Cataract, Opacification of the corneal stroma ORPHA:3453
Microphthalmia With Linear Skin Defects Syndrome
Mitral regurgitation, Anophthalmia, Congenital diaphragmatic hernia, Abnormal vitreous humor morp... ORPHA:2556
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Cardiomyopathy, Retinopathy, Inguinal hernia, Retinal degeneration, Severel... OMIM:252600
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome
Anisocoria, Orthostatic hypotension OMIM:615510
Micro Syndrome
Optic atrophy, Microcornea, Cataract, Cerebellar vermis hypoplasia, Abnormal cerebellum morpholog... ORPHA:2510
Wilms Tumor, Aniridia, Genitourinary Anomalies, And Impaired Intellectual Development Syndrome
Aniridia OMIM:194072
Crome Syndrome
Cerebellar dysplasia, Developmental cataract OMIM:218900
Al-Gazali-Bakalinova Syndrome
Molar tooth sign on MRI, Agenesis of corpus callosum OMIM:607131
Van Maldergem Syndrome 2
Narrow chest, Cutaneous syndactyly of toes, Renal hypoplasia, Clinodactyly, High anterior hairlin... OMIM:615546
White-Sutton Syndrome
Self-injurious behavior, Broad thumb, Hypoplastic cervical vertebrae, Micrognathia, Astigmatism, ... OMIM:616364
Spondyloepiphyseal Dysplasia Tarda
Enlarged metaphyses, Finger swelling, Hypoplasia of the odontoid process, Premature osteoarthriti... ORPHA:93284
Xeroderma Pigmentosum, Complementation Group B
Optic atrophy, Cataract, Cerebellar atrophy, Decreased nerve conduction velocity, Microphthalmia OMIM:610651
Otopalatodigital Syndrome Type 2
Cataract, Camptodactyly of finger, Ureteral obstruction, Hydronephrosis, Omphalocele, Hypospadias... ORPHA:90652
Chromosome 17Q12 Duplication Syndrome
Broad thumb, Peters anomaly, Micrognathia, Brachydactyly, Microphthalmia OMIM:614526
Fibular Aplasia-Ectrodactyly Syndrome
Aplasia/Hypoplasia of the fibula, Split hand, Abnormal morphology of ulna ORPHA:1118
Visual Impairment And Progressive Phthisis Bulbi
Phthisis bulbi, Flat cornea OMIM:618283
Van Maldergem Syndrome 1
Narrow chest, Renal hypoplasia, Clinodactyly, Abnormal foot morphology, Cutaneous finger syndacty... OMIM:601390
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures
Cerebellar atrophy, Agenesis of corpus callosum, Dysplastic corpus callosum, Microphthalmia, Opti... OMIM:614833
Autosomal Recessive Kenny-Caffey Syndrome
Thin ribs, Small hand, Delayed cranial suture closure, Stenosis of the medullary cavity of the lo... ORPHA:93324
Osteogenesis Imperfecta, Type Ix
Pectus carinatum, Multiple rib fractures, Wormian bones, Pectus excavatum, Short lower limbs OMIM:259440
Fanconi Anemia, Complementation Group C
Absent thumb, Short thumb, Horseshoe kidney, Absent radius, Microphthalmia, Ectopic kidney, Compl... OMIM:227645
Joubert Syndrome 8
Optic disc pallor, Occipital encephalocele, Molar tooth sign on MRI OMIM:612291
Joubert Syndrome With Jeune Asphyxiating Thoracic Dystrophy
Cerebellar vermis hypoplasia, Occipital encephalocele, Lateral ventricle dilatation, Dysgenesis o... ORPHA:397715
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Delayed peripheral myelination, Corneal opacity ORPHA:364577
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly
Clinodactyly of the 2nd finger, Absent middle phalanx of 5th finger, Micrognathia, Frontal upswee... OMIM:266920
Baraitser-Winter Cerebrofrontofacial Syndrome
Highly arched eyebrow, Microcornea, Hydroureter, Delayed cranial suture closure, Micrognathia, La... ORPHA:2995
Multiple Benign Circumferential Skin Creases On Limbs
Microcornea, Lower limb asymmetry, Umbilical hernia, Micrognathia, Generalized hirsutism, Microph... ORPHA:2505
Blau Syndrome
Cataract, Nongranulomatous uveitis, Band keratopathy, Flexion contracture of toe, Glaucoma, Campt... OMIM:186580
3P25.3 Microdeletion Syndrome
Broad thumb, Broad hallux, Overlapping toe, Micrognathia, Knee flexion contracture, Postaxial pol... ORPHA:435638
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Anophthalmia, Micropenis, Microphthalmia, Sclerocornea, Hypospadia... OMIM:206900
Bickerstaff Brainstem Encephalitis
Mydriasis, Decreased motor nerve conduction velocity, Facial paralysis, Abnormality of the autono... ORPHA:79138
Fanconi Anemia, Complementation Group O
Absent thumb, Short thumb, Stage 5 chronic kidney disease, Death in infancy, Neonatal death, Hydr... OMIM:613390
Joubert Syndrome 39
Cerebellar vermis hypoplasia, Occipital encephalocele, Molar tooth sign on MRI OMIM:619562
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Peters anomaly, Umbilical hernia, Axenfeld anomaly, Telangiectasia, Poste... OMIM:612582
Linear Skin Defects With Multiple Congenital Anomalies 2
Highly arched eyebrow, Nail dystrophy, Sandal gap, Microphthalmia OMIM:300887
Fanconi Anemia, Complementation Group G
Abnormal thumb morphology, Microphthalmia OMIM:614082
W Syndrome
Abnormality of the scalp hair, Radial bowing, Clinodactyly, Elbow dislocation, Pes cavus, Cubitus... ORPHA:2804
Silver-Russell Syndrome 1
Urethral valve, Delayed cranial suture closure, Abnormality of the ureter, Micrognathia, Clinodac... OMIM:180860
Holt-Oram Syndrome
Broad thumb, Aplasia/Hypoplasia of the radius, Finger syndactyly, Absent thumb, Abnormal clavicle... ORPHA:392
Bruck Syndrome
Pterygium, Talipes equinovarus, Wormian bones, Bowing of the long bones ORPHA:2771
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation
Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Ankle flexion contracture... ORPHA:464311
Spondylodysplastic Ehlers-Danlos Syndrome
Megalocornea, Subluxation of the small joints of the hand, Dysplasia of the femoral head, Microgn... ORPHA:536471
Shox-Related Short Stature
Genu valgum, Micrognathia, Ulnar radial head dislocation, Tibial bowing, Lower limb undergrowth, ... ORPHA:314795
Moebius Syndrome
Aplasia/Hypoplasia of the radius, Finger syndactyly, Breast aplasia, Absent hand, Aplasia/Hypopla... ORPHA:570
Arima Syndrome
Optic atrophy, Cerebellar vermis hypoplasia, Chorioretinal coloboma, Hypoplasia of the brainstem,... OMIM:243910
Gillessen-Kaesbach-Nishimura Syndrome
Frontotemporal hypertrichosis, Micrognathia, Narrow greater sciatic notch, Ulnar deviation of the... OMIM:263210
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies
Unilateral renal agenesis, Renal hypoplasia, Prominent fingertip pads, Overlapping toe, Overlappi... OMIM:618494
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome
Aplastic clavicle, Coronal craniosynostosis, Abnormal clavicle morphology, Large posterior fontan... ORPHA:85199
Osteogenesis Imperfecta, Type Xxi
Bell-shaped thorax, Bowing of the arm, Barrel-shaped chest, Wormian bones, Pes valgus, Pes planus... OMIM:619131
Acrodermatitis Enteropathica
Conjunctivitis, Corneal erosion ORPHA:37
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Conjunctival hyperemia, Microphthalmia, Clinodactyly of the 5th finger, Widow's peak OMIM:167730
Keppen-Lubinsky Syndrome
Abnormally large globe, Generalized lipodystrophy, Absence of subcutaneous fat, Lack of facial su... OMIM:614098
Oculodentodigital Dysplasia
Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Short hallux, Curly hair, Brittle ... ORPHA:2710
Oculodentodigital Dysplasia
Sparse hair, Cataract, Microcornea, Dry hair, Clinodactyly, Fine hair, 3-4 toe syndactyly, Joint ... OMIM:164200
Microcephalic osteodysplastic primordial dwarfism, type III
Pectus carinatum, Ulnar deviation of finger, Slender long bone, Chorioretinal coloboma, Bladder e... OMIM:210730
Mandibuloacral Dysplasia With Type B Lipodystrophy
Sparse hair, Alopecia, Delayed cranial suture closure, Micrognathia, Stage 5 chronic kidney disea... OMIM:608612
Spinal Muscular Atrophy-Progressive Myoclonic Epilepsy Syndrome
Abnormal lower motor neuron morphology ORPHA:2590
Apert Syndrome
Optic atrophy, Hypertension, Corneal erosion ORPHA:87
Postaxial Acrofacial Dysostosis
Finger syndactyly, Camptodactyly of finger, Supernumerary nipple, Micrognathia, Hypoplasia of the... ORPHA:246
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Ectopia pupillae, Contracture of the proximal interphalangeal joint of the 3rd finger, Low anteri... OMIM:618223
Vater/Vacterl Association
Hypospadias, Occipital encephalocele, Short thumb, Abnormal rib morphology, Preaxial polydactyly,... OMIM:192350
Farber Disease
Macular degeneration, Cherry red spot of the macula, Corneal opacity, Flexion contracture, Opacif... ORPHA:333
Lacrimoauriculodentodigital Syndrome 1
Bilateral triphalangeal thumbs, Corneal perforation, Nephrosclerosis, Short thumb, Broad hallux, ... OMIM:149730
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Cranium bifidum occultum, Cataract, Hypoplasia of the frontal bone, Sparse eyebrow, Finger clinod... ORPHA:306542
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 6
Abnormal lower motor neuron morphology, Amyotrophic lateral sclerosis OMIM:613954
Thanatophoric Dysplasia Type 1
Hypoplastic ilia, Narrow chest, Micromelia, Femoral bowing, Bowing of the long bones, Abnormal sa... ORPHA:1860
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome
Broad thumb, Camptodactyly of finger, Supernumerary nipple, Abnormal thorax morphology, Bilateral... ORPHA:1236
Upper Limb Mesomelic Dysplasia
Radial bowing, Ulnar deviation of finger, Hypoplasia of the ulna ORPHA:2497
Trichothiodystrophy 4, Nonphotosensitive
Optic atrophy, Microcornea, Keratoconjunctivitis sicca, Microphthalmia, Partial agenesis of the c... OMIM:234050
Hallermann-Streiff Syndrome
Sparse hair, Small hand, Rib exostoses, Alopecia, Sparse eyebrow, Sparse body hair, Micrognathia,... ORPHA:2108
Osteogenesis Imperfecta, Type Xii
Pectus carinatum, Hyperextensibility of the finger joints, Bowing of the arm, Micrognathia, Bowin... OMIM:613849
Aymé-Gripp Syndrome
Cataract, Reduced arm span, Megalocornea, Delayed cranial suture closure, Breast hypoplasia, Long... ORPHA:1272
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3
Lambdoidal craniosynostosis, Nephrocalcinosis, Hydroureter, Ureteral stenosis, Ankle clonus, Rena... OMIM:615398
Trisomy 17P
Cataract, High anterior hairline, Micrognathia, Prominent metopic ridge, Hydronephrosis, Talipes,... ORPHA:261290
Kindler Syndrome
Symblepharon, Phimosis, Telangiectasia of the skin, Corneal erosion, Urethral stenosis OMIM:173650
Hypophosphatemic Rickets With Hypercalciuria, Hereditary
Delayed epiphyseal ossification, Renal phosphate wasting, Calcium nephrolithiasis, Bulging epiphy... OMIM:241530
Stevens-Johnson Syndrome
Gastrointestinal hemorrhage, Abnormality of the urethra, Dysuria, Renal insufficiency, Conjunctiv... ORPHA:36426
Encephalocraniocutaneous Lipomatosis
Aortic valve stenosis, Retinopathy, Multiple lipomas, Pulmonary arterial hypertension, Lipodystro... ORPHA:2396
Keppen-Lubinsky Syndrome
Abnormally large globe, Loss of facial adipose tissue, Congenital generalized lipodystrophy, Lipo... ORPHA:435628
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the odontoid process, Broad long bones, Broad phalanx, Flat acetabular roof, Short ... OMIM:300106
Hyperostosis Cranialis Interna
Optic atrophy, Ocular hypertension, Facial palsy OMIM:144755
Bartter Syndrome, Type 2, Antenatal
Nephrocalcinosis, Hyperchloriduria, Abnormally large globe, Chondrocalcinosis, Increased urinary ... OMIM:241200
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb
Iris coloboma, Sparse eyebrow, Unilateral microphthalmos, Alopecia of scalp, Sparse eyelashes, Ad... OMIM:618874
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies
Clinodactyly, Frontal upsweep of hair, Pes planus, Motor stereotypy, Self-injurious behavior, Sym... OMIM:620494
Intellectual Developmental Disorder, Autosomal Recessive 65
Supernumerary nipple, Astigmatism, Aggressive behavior, Contracture of the proximal interphalange... OMIM:618109
Skin Creases, Congenital Symmetric Circumferential, 1
Microcornea, Micrognathia, Hypoplastic nipples, Long fingers, Microphthalmia, Pectus excavatum OMIM:156610
17Q12 Microduplication Syndrome
Self-injurious behavior, Toe syndactyly, Finger syndactyly, Microphthalmia, Synophrys ORPHA:261272
Witteveen-Kolk Syndrome
Small hand, Toe syndactyly, Clinodactyly, Male urethral meatus stenosis, Overlapping toe, Arachno... OMIM:613406
Occipital Horn Syndrome
Synostosis of joints, Delayed cranial suture closure, Humerus varus, Genu valgum, Large fontanell... ORPHA:198
Cdags Syndrome
Lambdoidal craniosynostosis, Coronal craniosynostosis, Sparse eyebrow, Delayed cranial suture clo... OMIM:603116
Vitamin D Hydroxylation-Deficient Rickets, Type 1B
Delayed epiphyseal ossification, Bulging epiphyses, Bulging of the costochondral junction, Fibula... OMIM:600081
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome
Microphthalmia, Agenesis of cerebellar vermis, Encephalocele, Agenesis of corpus callosum ORPHA:228390
Fanconi Anemia, Complementation Group R
Chiari type I malformation, Hydrocephalus, Microphthalmia OMIM:617244
Mucopolysaccharidosis, Type Vi
Glaucoma, Sinus tachycardia, Cardiomyopathy, Umbilical hernia, Tricuspid regurgitation, Mitral st... OMIM:253200
Amyotrophic Lateral Sclerosis 21
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:606070
Frontotemporal Dementia With Motor Neuron Disease
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology ORPHA:275872
Monosomy 9Q22.3
Cataract, Palmar pits, Plantar pits, Umbilical hernia, Metopic synostosis, Polydactyly, Hyperacti... ORPHA:77301
Aprosencephaly And Cerebellar Dysgenesis
Absent mesencephalon, Aprosencephaly, Cerebellar dysplasia, Poorly formed metencephalon OMIM:601374
Pseudo-Torch Syndrome 1
Cataract, Opacification of the corneal stroma, Renal insufficiency, Umbilical hernia OMIM:251290
Wilson Disease
Kayser-Fleischer ring ORPHA:905
Hereditary Pheochromocytoma-Paraganglioma
Sinus tachycardia, Cranial nerve compression, Congestive heart failure, Positive regitine blockin... ORPHA:29072
Pallister-Hall Syndrome
Toe syndactyly, Postaxial foot polydactyly, Distal shortening of limbs, Neonatal death, Radial he... OMIM:146510
Ulbright-Hodes Syndrome
Thin ribs, Abnormal penis morphology, Renal hypoplasia, Abnormal forearm bone morphology, Fibular... ORPHA:3404
Osteogenesis Imperfecta, Type Viii
Thin ribs, Slender long bone, Radial bowing, Femoral bowing, Tibial bowing, Barrel-shaped chest, ... OMIM:610915
Chromosome 13Q33-Q34 Deletion Syndrome
Hypospadias, Narrow chest, Penoscrotal transposition, Short thumb, Overlapping toe, Micrognathia,... OMIM:619148
Alacrima, Congenital, Autosomal Dominant
Punctate corneal epithelial erosions OMIM:103420
Osteogenesis Imperfecta, Type Xxii
Bowing of the long bones, Wormian bones, Pseudoarthrosis, Slender long bone OMIM:619795
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis
Lambdoidal craniosynostosis, Coronal craniosynostosis, Narrow chest, Narrow pelvis bone, Femoral ... OMIM:207410
Smooth Muscle Dysfunction Syndrome
Pulmonary arterial hypertension, Mydriasis, Retinal infarction, Hypertension OMIM:613834
Heart And Brain Malformation Syndrome
Hand clenching, Camptodactyly of finger, Microphthalmia, Wide anterior fontanel, Prominent metopi... OMIM:616920
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Elbow dislocation, Genu valgum, Bilateral single transverse palmar creases, Barrel-shaped chest, ... OMIM:143095
Seckel Syndrome 2
Cerebellar hypoplasia, Heart murmur, Cerebellar calcifications, Microphthalmia OMIM:606744
Hajdu-Cheney Syndrome
Foot acroosteolysis, Hypospadias, Short nail, Umbilical hernia, Long eyelashes, Genu valgum, Fibu... OMIM:102500
Fanconi Anemia
Aplasia/Hypoplasia of fingers, Toe syndactyly, Finger syndactyly, Micrognathia, Pes planus, Micro... ORPHA:84
Hypercholesterolemia, Familial, 3
Corneal arcus OMIM:603776
Peroxisome Biogenesis Disorder 5A (Zellweger)
Micrognathia, Large fontanelles, Talipes equinovarus, Brushfield spots, Polycystic kidney dysplas... OMIM:614866
Phace Association
Optic atrophy, Cerebellar hypoplasia, Horner syndrome, Developmental cataract, Microphthalmia, Da... OMIM:606519
Tangier Disease
Peripheral axonal neuropathy, Facial diplegia, Corneal opacity ORPHA:31150
Trichothiodystrophy 1, Photosensitive
Cataract, Microcornea, Fine hair, Trichorrhexis nodosa, Tiger tail banding, Nail dystrophy, Death... OMIM:601675
Alkaptonuria
Aortic valve stenosis, Aminoaciduria, Glaucoma, Elevated urinary homogentisic acid, Dark urine, M... ORPHA:56
Neuroocular Syndrome 1
Hypoplasia of the fovea, Pes planus, Brittle hair, Microphthalmia, Lens coloboma, Brushfield spot... OMIM:619539
Meckel Syndrome, Type 1
Occipital encephalocele, Chiari malformation, Dilated fourth ventricle, Large placenta, Agenesis ... OMIM:249000
Hypercholesterolemia, Familial, 1
Corneal arcus OMIM:143890
Toxic Epidermal Necrolysis
Gastrointestinal hemorrhage, Abnormality of the urethra, Dysuria, Renal insufficiency, Conjunctiv... ORPHA:537
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Opacification of the corneal stroma OMIM:313400
Menkes Disease
Alopecia, Metaphyseal spurs, Death in childhood, Wormian bones, Metaphyseal widening, Brittle hai... OMIM:309400
Hydrolethalus
Anophthalmia, Agenesis of corpus callosum, Hydrocephalus, Microphthalmia, Anencephaly ORPHA:2189
Short-Rib Thoracic Dysplasia 14 With Polydactyly
Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Anencephaly, Hydrocephalus, Molar toot... OMIM:616546
Craniotubular Dysplasia, Ikegawa Type
Optic atrophy, Mydriasis, Optic nerve compression, Phthisis bulbi, Optic neuropathy OMIM:619727
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency
Highly arched eyebrow, Broad distal phalanx of finger, Postaxial foot polydactyly, Lower limb asy... ORPHA:404440
Kenny-Caffey Syndrome, Type 2
Abnormality of the medullary cavity of the long bones, Thickened cortex of long bones, Delayed cl... OMIM:127000
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome
Cataract, Small hand, Renal hypoplasia, Delayed cranial suture closure, 11 pairs of ribs, Microgn... OMIM:620005
Postaxial Acrofacial Dysostosis
Congenital hip dislocation, Short thumb, Abnormal foot morphology, Supernumerary nipple, Microgna... OMIM:263750
Hypothyroidism, Congenital, Nongoitrous, 6
Congenital hip dislocation, Wormian bones OMIM:614450
Craniolenticulosutural Dysplasia
Sparse hair, Posterior Y-sutural cataract, High iliac wing, Narrow chest, Coarse hair, Pes planus... OMIM:607812
Osteopetrosis, Autosomal Recessive 5
Optic atrophy, Mydriasis, Stillbirth, Optic disc pallor, Facial palsy OMIM:259720
Mucopolysaccharidosis Type 2, Severe Form
Optic atrophy, Cardiomyopathy, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excreti... ORPHA:217085
Acrofrontofacionasal Dysostosis 2
Broad thumb, Broad hallux, Hand polydactyly, Hypospadias, Widow's peak, Wide anterior fontanel, S... OMIM:239710
Mucopolysaccharidosis Type 6
Hernia, Mucopolysacchariduria, Opacification of the corneal stroma ORPHA:583
Mucopolysaccharidosis, Type Vii
Cardiomyopathy, Umbilical hernia, Heparan sulfate excretion in urine, Urinary glycosaminoglycan e... OMIM:253220
Weill-Marchesani Syndrome 2
Cataract, Microspherophakia, Broad phalanges of the hand, Ectopia lentis, Umbilical hernia, Short... OMIM:608328
Intellectual Developmental Disorder With Short Stature, Facial Anomalies, And Speech Defects
Microretrognathia, Joint dislocation, Short clavicles, Short 4th metacarpal, Aggressive behavior OMIM:606220
Dyrk1A-Related Intellectual Disability Syndrome
Aortic valve stenosis, Aortic regurgitation, Unilateral renal agenesis, Astigmatism, Multiple joi... ORPHA:464306
Jacobsen Syndrome
Hypospadias, Microcornea, Chorioretinal coloboma, Micrognathia, Missing ribs, Macular hypoplasia,... OMIM:147791
Meckel Syndrome, Type 5
Postaxial foot polydactyly, Occipital encephalocele, Bowing of the long bones, Renal cyst, Postax... OMIM:611561
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form
Atypical scarring of skin, Dilated cardiomyopathy, Flexion contracture, Corneal erosion ORPHA:89842
Mycophenolate Mofetil Embryopathy
Chorioretinal coloboma, Micrognathia, Ectopic kidney, Microphthalmia, Foot polydactyly, Iris colo... ORPHA:268249
Kapur-Toriello Syndrome
Dysplastic corpus callosum, Iris coloboma, Microphthalmia ORPHA:2328
47,Xyy Syndrome
Abnormal brainstem morphology, Cerebellar dysplasia, Dysgenesis of the cerebellar vermis, Hydroce... ORPHA:8
Trichothiodystrophy 3, Photosensitive
Cataract, Trichorrhexis nodosa, Tiger tail banding, Developmental cataract, Brittle hair, Microph... OMIM:616395
Ollier Disease
Multiple enchondromatosis, Abnormal metaphysis morphology, Micromelia, Abnormal cartilage morphology ORPHA:296
Monosomy 18P
Holoprosencephaly, Hypertension, Microphthalmia ORPHA:1598
Meckel Syndrome, Type 2
Encephalocele, Microphthalmia, Meningocele, Anencephaly, Dandy-Walker malformation OMIM:603194
Duplication Of The Pituitary Gland
Abnormal midbrain morphology, Encephalocele, Agenesis of corpus callosum ORPHA:314621
Mucopolysaccharidosis Type 2, Attenuated Form
Optic atrophy, Cardiomyopathy, Camptodactyly of finger, Umbilical hernia, Heparan sulfate excreti... ORPHA:217093
Kyphomelic Dysplasia
Radial bowing, Flared metaphysis, Thoracic hypoplasia, Pterygium, Dumbbell-shaped humerus, Latera... OMIM:211350
Pycnodysostosis
Coronal craniosynostosis, Small hand, Narrow chest, Abnormal clavicle morphology, Rhizomelia, Per... ORPHA:763
Koolen-De Vries Syndrome
Iris hypopigmentation, Cataract, Slender finger, Prominent fingertip pads, Fair hair, Positional ... OMIM:610443
Multiple Acyl-Coa Dehydrogenase Deficiency
Generalized aminoaciduria, Glutaric aciduria, Proximal tubulopathy, Ethylmalonic aciduria, Glycos... OMIM:231680
Cole-Carpenter Syndrome 2
Thin ribs, Lambdoidal craniosynostosis, Coronal craniosynostosis, Microretrognathia, Wide cranial... OMIM:616294
Xylt1-Cdg
Broad thumb, Joint dislocation, Clinodactyly, Flared metaphysis, Broad ribs, Hirsutism, Short cla... ORPHA:370930
Hajdu-Cheney Syndrome
Micrognathia, Bowing of the long bones, Absent frontal sinuses, Generalized hirsutism, Patellar d... ORPHA:955
De Barsy Syndrome
Cataract, Abnormal fundus fluorescein angiography, Umbilical hernia, Inguinal hernia, Lipodystrop... ORPHA:2962
Hypercholesterolemia, Familial, 2
Corneal arcus OMIM:144010
Antley-Bixler Syndrome
Narrow chest, Camptodactyly of finger, Delayed cranial suture closure, Femoral bowing, Arachnodac... ORPHA:83
Acromesomelic Dysplasia 1
Acromesomelia, Thoracolumbar kyphosis, Short nail, Radial bowing, Short toe, Flared metaphysis, L... OMIM:602875
Fanconi Anemia, Complementation Group J
Short thumb, Microphthalmia OMIM:609054
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies
Sparse eyebrow, High anterior hairline, Prominent fingertip pads, Supernumerary nipple, Thick eye... OMIM:620098
Ring Chromosome 10 Syndrome
Sandal gap, Micrognathia, Microphthalmia, Pectus excavatum, Tapered finger ORPHA:1438
Distal Limb Deficiencies-Micrognathia Syndrome
Renal hypoplasia, Aplasia/Hypoplasia of the radius, Microretrognathia, Abnormality of the ankle, ... ORPHA:1307
Mucopolysaccharidosis Type 3
Cataract, Pigmentary retinopathy, Optic atrophy, Atrioventricular block, Umbilical hernia, Reduce... ORPHA:581
Inclusion Body Myopathy With Paget Disease Of Bone And Frontotemporal Dementia
Amyotrophic lateral sclerosis, Abnormal motor neuron morphology ORPHA:52430
Alagille Syndrome 1
Focal segmental glomerulosclerosis, Cataract, Microcornea, Band keratopathy, Short distal phalanx... OMIM:118450
Sweeney-Cox Syndrome
Short distal phalanx of finger, Narrow chest, Micrognathia, 2-4 finger syndactyly, Short clavicle... OMIM:617746
Mosaic Variegated Aneuploidy Syndrome
Aortic regurgitation, Cataract, Multicystic kidney dysplasia, Glaucoma, Corneal opacity, Micropht... ORPHA:1052
Poland Syndrome
Small hand, Finger syndactyly, Ureterocele, Aplasia/Hypoplasia of the sternum, Encephalocele, Low... ORPHA:2911
Chromosome 13Q14 Deletion Syndrome
Chorioretinal coloboma, Umbilical hernia, Supernumerary nipple, Overlapping toe, Micrognathia, Si... OMIM:613884
Lessel-Kreienkamp Syndrome
Wide cranial sutures, Clinodactyly of the 5th finger, Attention deficit hyperactivity disorder, A... OMIM:619149
Schimke Immunoosseous Dysplasia
Focal segmental glomerulosclerosis, Transient ischemic attack, Cerebral ischemia, Renal insuffici... OMIM:242900
Facial Clefting, Oblique, 1
Microphthalmia OMIM:600251
Aicardi Syndrome
Optic atrophy, Cataract, Cerebellar vermis hypoplasia, Chiari malformation, Lateral ventricle dil... OMIM:304050
Teebi-Shaltout Syndrome
Sparse hair, Pectus carinatum, Highly arched eyebrow, Caudal appendage, Ureteral stenosis, Horses... OMIM:272950
Dysosteosclerosis
Short diaphyses, Narrow chest, Broad femoral neck, Absent paranasal sinuses, Flared metaphysis, B... OMIM:224300
Brachydactyly, Type E1
Type E brachydactyly, Short clavicles, Brachydactyly, Straight clavicles, Short metatarsal, Short... OMIM:113300
Osteogenesis Imperfecta, Type Xvi
Narrow chest, Rhizomelia, Microretrognathia, Bowing of the long bones, Multiple rib fractures, Wo... OMIM:616229
Rubinstein-Taybi Syndrome 1
Facial hypertrichosis, Broad thumb, Delayed cranial suture closure, Hypoplastic iliac wing, Micro... OMIM:180849
Multiple System Atrophy 1, Susceptibility To
Iris atrophy, Orthostatic hypotension, Abnormal autonomic nervous system physiology, Urinary inco... OMIM:146500
Cocaine Intoxication
Mydriasis, Diffuse alveolar hemorrhage, Hypotension, Acute kidney injury, Prolonged QRS complex, ... ORPHA:90068
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Bulgin... OMIM:264700
Chime Syndrome
Sparse hair, Aplasia/Hypoplasia of the phalanges of the toes, Clubbing of toes, Aplastic clavicle... ORPHA:3474
Hypogonadism-Mitral Valve Prolapse-Intellectual Disability Syndrome
Low posterior hairline, Abnormal metacarpal morphology, Abnormal hair quantity, Abnormal morpholo... ORPHA:2233
Lathosterolosis
Cataract, Microcornea, Toe syndactyly, Postaxial foot polydactyly, Horseshoe kidney, Micrognathia... ORPHA:46059
Carpenter Syndrome 1
Optic atrophy, Microcornea, Joint contracture of the hand, Hydroureter, Umbilical hernia, Hydrone... OMIM:201000
Ablepharon Macrostomia Syndrome
Camptodactyly of finger, Umbilical hernia, Omphalocele, Corneal opacity, Hypoplasia of penis, Cor... ORPHA:920
Papillorenal Syndrome
Chronic kidney disease, Cataract, Multicystic kidney dysplasia, Renal hypoplasia, Horseshoe kidne... OMIM:120330
Mucopolysaccharidosis Type 2
Optic atrophy, Contractures of the large joints, Cardiomyopathy, Umbilical hernia, Decreased nerv... ORPHA:580
Craniosynostosis 6
Right unilambdoid synostosis, Delayed cranial suture closure, Bicoronal synostosis, Low anterior ... OMIM:616602
Parietal Foramina With Cleidocranial Dysplasia
Short clavicles, Widely patent fontanelles and sutures OMIM:168550
Lateral Meningocele Syndrome
Umbilical hernia, Micrognathia, Low posterior hairline, Wormian bones, Pectus excavatum, Meningoc... ORPHA:2789
Craniosynostosis 2
Unicoronal synostosis, Bicoronal synostosis, Wormian bones, Triphalangeal thumb, Brachydactyly, M... OMIM:604757
Monosomy 13Q14
Cataract, Finger syndactyly, Micrognathia, Aplasia/Hypoplasia of the thumb, Brachydactyly, Microp... ORPHA:1587
Hyperparathyroidism, Transient Neonatal
Thin ribs, Unilateral renal agenesis, Fractured rib, Narrow chest, Metaphyseal spurs, Umbilical h... OMIM:618188
Peroxisome Biogenesis Disorder 13A (Zellweger)
Dicarboxylic aciduria, Micrognathia, Large fontanelles, Neonatal death, Posterior embryotoxon, De... OMIM:614887
Microgastria-Limb Reduction Defect Syndrome
Aplastic clavicle, Multicystic kidney dysplasia, Short thumb, Ectrodactyly, Elbow dislocation, Ol... ORPHA:2538
Laryngotracheoesophageal Cleft Type 4
Abnormal lower motor neuron morphology ORPHA:93941
Fryns Syndrome
Thin ribs, Short distal phalanx of finger, Hypospadias, Rocker bottom foot, Microretrognathia, Sh... OMIM:229850
Myoclonic-Astatic Epilepsy
Frontal balding, Attention deficit hyperactivity disorder, Hyperactivity, Microphthalmia, Syndactyly ORPHA:1942
Sheldon-Hall Syndrome
Ulnar deviation of finger, Aplasia/Hypoplasia of the radius, Abnormal hip bone morphology, Overla... ORPHA:1147
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Multicystic kidney dysplasia, Ectopia pupillae, Long hallux, Genu valgum, Axenfeld anomaly, Arach... ORPHA:261552
Spondylometaphyseal Dysplasia, Algerian Type
Hypoplasia of proximal radius, Short tubular bones of the hand, Flared femoral metaphysis, Genu v... OMIM:184253
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Atrophic scars, Scarring, Enamel hypoplasia, Corneal opacity ORPHA:79396
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 1
Abnormal upper motor neuron morphology OMIM:221770
Neurocardiofaciodigital Syndrome
Sclerocornea, Cataract, Optic disc pallor, Vesicoureteral reflux OMIM:619869
Schinzel-Giedion Midface Retraction Syndrome
Aplasia/Hypoplasia of the pubic bone, Talipes equinovarus, Long clavicles, Hypospadias, Increased... OMIM:269150
Acromelic Frontonasal Dysostosis
Optic nerve hypoplasia, Short tibia, Patellar hypoplasia, Preaxial hand polydactyly, Preaxial foo... OMIM:603671
Vitamin D-Dependent Rickets, Type 2A
Delayed epiphyseal ossification, Subperiosteal bone resorption, Alopecia universalis, Bulging epi... OMIM:277440
Pycnodysostosis
Aplastic clavicle, Persistent open anterior fontanelle, Micrognathia, Absent frontal sinuses, Wor... OMIM:265800
Apert Syndrome
Delayed epiphyseal ossification, Lambdoidal craniosynostosis, Broad thumb, Synostosis of carpal b... OMIM:101200
Osteogenesis Imperfecta
Thin ribs, Abnormal tibia morphology, Genu valgum, Micrognathia, Large fontanelles, Bowing of the... ORPHA:666
Alpha-Mannosidosis, Infantile Form
Aortic regurgitation, Cataract, Oligosacchariduria, Umbilical hernia, Mitral regurgitation, Astig... ORPHA:309282
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2
Bidirectional shunt, Mydriasis, Anuria, Megacystis, Pyelonephritis, Elevated pulmonary artery pre... OMIM:619351
Orofaciodigital Syndrome Ii
Postaxial foot polydactyly, Flared metaphysis, Preaxial hand polydactyly, Preaxial foot polydacty... OMIM:252100
Myhre Syndrome
Cataract, Cone-shaped epiphysis, Short toe, Clinodactyly, Short finger, Radial deviation of finge... OMIM:139210
Developmental And Epileptic Encephalopathy 1
Micropenis, Dysphagia, Microphthalmia OMIM:308350
Joubert Syndrome 5
Occipital encephalocele, Thickened superior cerebellar peduncle, Molar tooth sign on MRI, Agenesi... OMIM:610188
Brittle Cornea Syndrome 1
Keratoconus, Keratoglobus, Abnormal cornea morphology, Decreased corneal thickness OMIM:229200
Osteoporosis-Pseudoglioma Syndrome
Cataract, Vitreoretinopathy, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Ex... OMIM:259770
Familial Thyroid Dyshormonogenesis
Abnormal epiphysis morphology, Large posterior fontanelle, Delayed cranial suture closure, Umbili... ORPHA:95716
Dysostosis, Stanescu Type
Abnormal epiphysis morphology, Micromelia, Massively thickened long bone cortices, Persistent ope... ORPHA:1798
Osteogenesis Imperfecta, Type Xviii
Thin ribs, Umbilical hernia, Long eyelashes, Femoral bowing, Micrognathia, Bowing of the long bon... OMIM:617952
Japanese Encephalitis
Abnormal midbrain morphology, Decreased motor nerve conduction velocity, Abnormal substantia nigr... ORPHA:79139
Kindler Epidermolysis Bullosa
Atypical scarring of skin, Camptodactyly of finger, Abnormal dental enamel morphology, Neoplasm o... ORPHA:2908
Baraitser-Winter Syndrome 2
Microphthalmia, Agenesis of corpus callosum OMIM:614583
Alpha-N-Acetylgalactosaminidase Deficiency Type 2
Telangiectasia of the skin, Opacification of the corneal stroma, Telangiectasia of the oral mucos... ORPHA:79280
Frontofacionasal Dysplasia
Cranium bifidum occultum, Cataract, Microcornea, Microphthalmia, Iris coloboma OMIM:229400
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Aplasia of the distal phalanx of the 5th toe, Short finger, Thin eyebrow, Micrognathia, Prominent... OMIM:608670
Pseudotrisomy 13 Syndrome
Encephalocele, Agenesis of corpus callosum, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia,... OMIM:264480
Kenny-Caffey Syndrome, Type 1
Thin ribs, Small hand, Slender long bone, Delayed closure of the anterior fontanelle, Long clavic... OMIM:244460
Tetraamelia Syndrome 1
Cataract, Abnormal clavicle morphology, Abnormal scapula morphology, Micrognathia, Hypoplastic pe... OMIM:273395
Stevenson-Carey Syndrome
Camptodactyly, Joint contracture of the hand, Microphthalmia, Hip dysplasia OMIM:611961
Oculoectodermal Syndrome
Microcornea, Hypertrophic cardiomyopathy, Transient ischemic attack, Chorioretinal atrophy, Astig... OMIM:600268
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity
Astigmatism, Optic nerve dysplasia OMIM:617296
Skin Creases, Congenital Symmetric Circumferential, 2
Hypospadias, Microcornea, Ureterocele, Micrognathia, Low anterior hairline, 2-3 toe syndactyly, P... OMIM:616734
Neu-Laxova Syndrome 1
Joint contracture of the hand, Toe syndactyly, Finger syndactyly, Clinodactyly, Micrognathia, Neo... OMIM:256520
Braddock-Carey Syndrome 2
Clinodactyly, Microphthalmia OMIM:619981
Enlarged Parietal Foramina
Broad thumb, Occipital encephalocele, Myelomeningocele, Short clavicles, Craniosynostosis ORPHA:60015
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies
Broad proximal phalanges of the hand, Bilateral microphthalmos, Abnormal hair morphology, Ethmoid... OMIM:607597
Eec Syndrome
Keratitis, Abnormal dental enamel morphology, Vesicoureteral reflux, Hydronephrosis, Urethral atr... ORPHA:1896
Chromosome 1Q41-Q42 Deletion Syndrome
Cerebellar hypoplasia, Holoprosencephaly, Microphthalmia OMIM:612530
Subaortic Stenosis-Short Stature Syndrome
Micrognathia, Synostosis of carpal bones, Bilateral single transverse palmar creases, Microphthalmia ORPHA:3191
Linear Nevus Sebaceus Syndrome
Aplasia/Hypoplasia of the cerebellum, Iris coloboma, Dandy-Walker malformation, Microphthalmia ORPHA:2612
Incontinentia Pigmenti
Cataract, Alopecia, Coarse hair, Keratitis, Fine hair, Supernumerary nipple, Breast aplasia, Brea... OMIM:308300
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities
Pectus carinatum, Delayed cranial suture closure, Facial hirsutism, Overlapping toe, Overlapping ... OMIM:619383
Mowat-Wilson Syndrome
Cataract, Microcornea, Abnormal enteric ganglion morphology, Hypospadias, Chorioretinal coloboma,... OMIM:235730
Shprintzen-Goldberg Craniosynostosis Syndrome
Thin ribs, Pectus carinatum, Joint contracture of the hand, Genu recurvatum, Umbilical hernia, Ge... OMIM:182212
Solitary Median Maxillary Central Incisor
Holoprosencephaly, Anophthalmia, Microphthalmia OMIM:147250
Autosomal Dominant Kenny-Caffey Syndrome
Bilateral microphthalmos, Delayed cranial suture closure, Stenosis of the medullary cavity of the... ORPHA:93325
Occipital Horn Syndrome
Pectus carinatum, Broad clavicles, Narrow chest, Coarse hair, Persistent open anterior fontanelle... OMIM:304150
Hypocalcemic Vitamin D-Dependent Rickets
Delayed epiphyseal ossification, Subperiosteal bone resorption, Generalized aminoaciduria, Rachit... ORPHA:289157
Fanconi Anemia, Complementation Group S
Clinodactyly, Long eyelashes, Low anterior hairline, Microphthalmia, Sparse hair, Proximal placem... OMIM:617883
Atelis Syndrome 2
Clinodactyly, Micrognathia, Single transverse palmar crease, Attention deficit hyperactivity diso... OMIM:620185
Aicardi-Goutières Syndrome
Glaucoma, Hypertrophic cardiomyopathy, Multiple joint contractures, Raynaud phenomenon, Micropeni... ORPHA:51
45,X/46,Xy Mixed Gonadal Dysgenesis
Horseshoe kidney, Epispadias, Chordee, Penoscrotal hypospadias, Micropenis, Urogenital sinus anom... ORPHA:1772
Diamond-Blackfan Anemia 1
Hypoplastic ilia, Narrow chest, Hypoplastic coccygeal vertebrae, Absent thumb, Short thumb, Renal... OMIM:105650
Neurofibromatosis Type 1
Cataract, Glaucoma, Chorioretinal coloboma, Pheochromocytoma, Abnormality of retinal pigmentation... ORPHA:636
Joubert Syndrome 17
Molar tooth sign on MRI OMIM:614615
Mucopolysaccharidosis, Type Iva
Chondroitin sulfate excretion in urine, Keratan sulfate excretion in urine, Grayish enamel, Ingui... OMIM:253000
Marshall-Smith Syndrome
Hypoplasia of the odontoid process, Death in childhood, Bullet-shaped middle phalanges of the han... OMIM:602535
Holoprosencephaly
Optic atrophy, Spinal dysraphism, Chorioretinal coloboma, Branchial anomaly, Anophthalmia, Enceph... ORPHA:2162
Orofaciodigital Syndrome Vi
Cerebellar vermis hypoplasia, Occipital meningocele, Molar tooth sign on MRI, Agenesis of corpus ... OMIM:277170
Lenz-Majewski Hyperostotic Dwarfism
Broad clavicles, Flared metaphysis, Aplasia/Hypoplasia of the middle phalanges of the hand, Hyper... OMIM:151050
Tbck-Related Intellectual Disability Syndrome
Neurogenic bladder, Pulmonic stenosis, Corneal opacity ORPHA:488632
1P36 Deletion Syndrome
Delayed cranial suture closure, Generalized hirsutism, Polyphagia, Foot polydactyly, Short foot, ... ORPHA:1606
Hypoparathyroidism-Retardation-Dysmorphism Syndrome
Small hand, Micrognathia, Microphthalmia, Micropenis, Short foot, Short palm OMIM:241410
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1
Micrognathia, Arachnodactyly, Radioulnar synostosis, Bowing of the long bones, Talipes equinovaru... OMIM:130070
Ehlers-Danlos Syndrome, Arthrochalasia Type, 2
Joint subluxation, Bladder diverticulum, Talipes equinovarus, Hallux valgus, Pes planus, Wormian ... OMIM:617821
Microcephaly 20, Primary, Autosomal Recessive
Microphthalmia, Optic nerve hypoplasia, Cerebellar hypoplasia, Agenesis of corpus callosum OMIM:617914
Infantile-Onset X-Linked Spinal Muscular Atrophy
Abnormal anterior horn cell morphology, Degeneration of anterior horn cells ORPHA:1145
Peters Plus Syndrome
Cataract, Microcornea, Optic atrophy, Peters anomaly, Multicystic kidney dysplasia, Hypospadias, ... ORPHA:709
Mandibuloacral Dysplasia With Type A Lipodystrophy
Short distal phalanx of finger, Alopecia, Sparse scalp hair, Delayed cranial suture closure, Elbo... OMIM:248370
Familial Thoracic Aortic Aneurysm And Aortic Dissection
Aortic regurgitation, Abnormality iris morphology, Abnormality of connective tissue, Transient is... ORPHA:91387
Osteogenesis Imperfecta, Type I
Otosclerosis, Femoral bowing, Wormian bones, Hip dysplasia, Finger joint hypermobility OMIM:166200
Townes-Brocks Syndrome
Toe syndactyly, Broad thumb, Chorioretinal coloboma, Pes planus, Microphthalmia, Iris coloboma, H... ORPHA:857
Pituitary Apoplexy
Hypotension, Mydriasis, Hypertension ORPHA:95613
Restrictive Dermopathy 1
Increased anterioposterior diameter of thorax, Micrognathia, Large fontanelles, Neonatal death, S... OMIM:275210
Galloway-Mowat Syndrome 3
Nephrotic syndrome, Micrognathia, Stage 5 chronic kidney disease, Arachnodactyly, Proteinuria, Di... OMIM:617729
Neurooculorenal Syndrome
Cerebellar vermis hypoplasia, Hypoplasia of the pons, Iris atrophy, Agenesis of corpus callosum, ... OMIM:620305
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4
Deep plantar creases, Micrognathia, Renal cortical cysts, Astigmatism, Vesicoureteral reflux, Pec... OMIM:618548
Joubert Syndrome 38
Cerebellar vermis hypoplasia, Inferior cerebellar vermis hypoplasia, Molar tooth sign on MRI OMIM:619476
Cole-Carpenter Syndrome
Micrognathia, Bowing of the long bones, Wormian bones, Abnormal rib morphology, Abnormal metaphys... ORPHA:2050
Ayme-Gripp Syndrome
Delayed cranial suture closure, Nail dystrophy, Radioulnar synostosis, Broad eyebrow, Brachydacty... OMIM:601088
Gaucher Disease, Type Iiic
Opacification of the corneal stroma, Mitral stenosis OMIM:231005
Renpenning Syndrome 1
Cataract, Hypospadias, Renal hypoplasia, Joint contracture of the hand, Synostosis of the proxima... OMIM:309500
Saethre-Chotzen Syndrome
Broad thumb, Finger syndactyly, Prominent crus of helix, Delayed cranial suture closure, Bilatera... ORPHA:794
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency
Cerebellar atrophy, Hypoplasia of the pons, Bilateral microphthalmos, Agenesis of corpus callosum... ORPHA:468631
Alg9-Cdg
Rhizomelia, Microretrognathia, Flared metaphysis, Delayed cranial suture closure, Hypertrichosis,... ORPHA:79328
Momo Syndrome
Chorioretinal coloboma, Bilateral microphthalmos, Long foot, Femoral bowing, Short sternum, Large... ORPHA:2563
Limb Body Wall Complex
Cutaneous finger syndactyly, Encephalocele, Aplasia/hypoplasia involving bones of the upper limbs... ORPHA:2369
Diamond-Blackfan Anemia
Horseshoe kidney, Developmental cataract, Hypospadias, Developmental glaucoma ORPHA:124
Alternating Hemiplegia Of Childhood
Mydriasis, Cardiomyopathy, Abnormal T-wave, Cardiac conduction abnormality, Arrhythmia, Abnormal ... ORPHA:2131
Ehlers-Danlos Syndrome, Dermatosparaxis Type
Short toe, Umbilical hernia, Recurrent mandibular subluxations, Micrognathia, Hirsutism, Limb und... OMIM:225410
Scorpion Envenomation
Mydriasis, Cardiogenic shock, Prominent U wave, Acute kidney injury, Glycosuria, Congestive heart... ORPHA:466677
Microphthalmia, Syndromic 2
2-3 toe cutaneous syndactyly, Hypospadias, Microcornea, Hand clenching, Sandal gap, Broad hallux,... OMIM:300166
Ohdo Syndrome, X-Linked
Narrow chest, Sparse eyebrow, High anterior hairline, Short thumb, Clinodactyly, Overlapping toe,... OMIM:300895
Infantile Nephropathic Cystinosis
Aminoaciduria, Pigmentary retinopathy, Abnormal cornea morphology, Corneal crystals, Glycosuria, ... ORPHA:411629
Trichothiodystrophy
Microcornea, Joint dislocation, Bilateral microphthalmos, Umbilical hernia, Tiger tail banding, A... ORPHA:33364
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb
Broad thumb, Frontal balding, Overlapping toe, Micrognathia, Talipes, Pes planus, Sutural catarac... OMIM:612474
Cornelia De Lange Syndrome
Small hand, Toe syndactyly, Multicystic kidney dysplasia, Elbow dislocation, Micrognathia, Bilate... ORPHA:199
Holoprosencephaly 2
Alobar holoprosencephaly, Semilobar holoprosencephaly, Chorioretinal coloboma, Agenesis of corpus... OMIM:157170
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form
Chronic kidney disease, Dilated cardiomyopathy, Foot joint contracture, Urinary bladder sphincter... ORPHA:79408
Cystinosis, Nephropathic
Aminoaciduria, Generalized aminoaciduria, Pigmentary retinopathy, Corneal crystals, Retinal pigme... OMIM:219800
Microcephalic Osteodysplastic Primordial Dwarfism, Type I
Delayed epiphyseal ossification, Enlarged metaphyses, Elbow dislocation, Micrognathia, Death in c... OMIM:210710
Cutis Laxa, Autosomal Recessive, Type Iib
Congenital hip dislocation, Large fontanelles, Bowing of the long bones, Wormian bones, Pectus ex... OMIM:612940
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome
Cataract, Small hand, Highly arched eyebrow, Hypoplasia of proximal radius, Horseshoe kidney, Fac... ORPHA:444077
Williams Syndrome
Cataract, Chiari malformation, Megalocornea, Hypertrophic cardiomyopathy, Congestive heart failur... ORPHA:904
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome
Keratitis, Hydroureter, Camptodactyly of finger, Abnormal dental enamel morphology, Astigmatism, ... ORPHA:2273
Neonatal Marfan Syndrome
Ectopia lentis, Megalocornea, Tricuspid regurgitation, Mitral regurgitation, Iridodonesis, Heart ... ORPHA:284979
Autosomal Dominant Cutis Laxa
Aortic regurgitation, Unilateral renal agenesis, Congestive heart failure, Pyelonephritis, Mitral... ORPHA:90348
Ivic Syndrome
Aplastic clavicle, Synostosis of carpal bones, Short thumb, Preaxial hand polydactyly, Radioulnar... ORPHA:2307
Microphthalmia, Syndromic 11
Microphthalmia, Agenesis of corpus callosum OMIM:614402
Opitz-Kaveggia Syndrome
Joint contracture of the hand, Broad thumb, Prominent fingertip pads, Clinodactyly, Umbilical her... OMIM:305450
9Q31.1Q31.3 Microdeletion Syndrome
Highly arched eyebrow, Small hand, Short clavicles, Thick hair, Renovascular hypertension, Tapere... ORPHA:401923
Meckel Syndrome 14
Postaxial foot polydactyly, Occipital encephalocele, Microretrognathia, Micrognathia, Bowing of t... OMIM:619879
Wrinkly Skin Syndrome
Congenital hip dislocation, Microretrognathia, Short nail, Slender long bone, Deep plantar crease... OMIM:278250
Schinzel-Giedion Syndrome
Abnormality of the ureter, Overlapping toe, Overlapping fingers, Micrognathia, Radioulnar synosto... ORPHA:798
Cockayne Syndrome A
Cataract, Optic atrophy, Pigmentary retinopathy, Abnormal auditory evoked potentials, Retinal pig... OMIM:216400
Silver-Russell Syndrome
Lower limb asymmetry, Sandal gap, Abnormality of the calcaneus, Delayed cranial suture closure, M... ORPHA:813
Orofaciodigital Syndrome Xvi
Molar tooth sign on MRI OMIM:617563
Charge Syndrome
Optic atrophy, Chorioretinal coloboma, Umbilical hernia, Abnormal cranial nerve morphology, Anoph... ORPHA:138
Arrhinia-Choanal Atresia-Microphthalmia Syndrome
Microphthalmia ORPHA:1135
Mandibuloacral Dysplasia Progeroid Syndrome
Thin ribs, Focal segmental glomerulosclerosis, Sparse eyebrow, Sandal gap, Delayed cranial suture... OMIM:619127
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1
Large fontanelles, Arthropathy, Wormian bones, Osteolytic defects of the phalanges of the hand, P... OMIM:259100
Immunodeficiency 43
Hypoplasia of the ulna, Radial bowing OMIM:241600
Fanconi Anemia, Complementation Group F
Renal hypoplasia, Absent thumb, Short thumb, Microphallus, Vesicoureteral reflux, 2-3 finger synd... OMIM:603467
Trisomy 8P
Short fifth metatarsal, Nephrocalcinosis, Short 1st metacarpal, Clinodactyly of the 2nd finger, C... ORPHA:264450
Treacher-Collins Syndrome
Cataract, Branchial fistula, Abnormal hair morphology, Micrognathia, Encephalocele, Low anterior ... ORPHA:861
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome
Arachnodactyly, Micrognathia, Delayed cranial suture closure ORPHA:1129
8Q24.3 Microdeletion Syndrome
Branchial cyst, Talipes, Short hallux, Pes planus, Tics, Dysphagia, Short 5th finger, Bilateral r... ORPHA:508488
Aicardi Syndrome
Small hand, Block vertebrae, Sparse lateral eyebrow, Chorioretinal coloboma, Missing ribs, Supern... ORPHA:50
Floating-Harbor Syndrome
Clinodactyly, Broad fingertip, Dislocated radial head, Restlessness, Polycystic kidney dysplasia,... ORPHA:2044
Fanconi Anemia, Complementation Group N
Unilateral renal agenesis, Absent thumb, Short thumb, Horseshoe kidney, Hypoplasia of the radius,... OMIM:610832
Robin Sequence With Cleft Mandible And Limb Anomalies
Short tibia, Micrognathia, Talipes equinovarus, Short hallux, Small thenar eminence, Mesomelic ar... OMIM:268305
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum
Symblepharon, Abnormal penis morphology, Acute kidney injury, Moderate albuminuria, Keratitis, At... ORPHA:95455
Xeroderma Pigmentosum
Aminoaciduria, Cataract, Optic atrophy, Keratitis, Pterygium, Conjunctival telangiectasia, Telang... ORPHA:910
Smith-Lemli-Opitz Syndrome
Multicystic kidney dysplasia, Postaxial foot polydactyly, Finger syndactyly, Talipes calcaneovalg... ORPHA:818
Orofaciodigital Syndrome Xiv
Cerebellar vermis hypoplasia, Occipital encephalocele, Optic disc coloboma, Cerebellar hypoplasia... OMIM:615948
Ciliary Dyskinesia, Primary, 1
Communicating hydrocephalus, Abnormal cornea morphology OMIM:244400
Parietal Foramina 1
Wormian bones, Encephalocele OMIM:168500
Nestor-Guillermo Progeria Syndrome
Thin ribs, Alopecia, Microretrognathia, Sparse eyebrow, Sparse scalp hair, Micrognathia, Nail dys... OMIM:614008
Marbach-Rustad Progeroid Syndrome
Short clavicles, Femur fracture, Micrognathia, Wormian bones OMIM:619322
Wolf-Hirschhorn Syndrome
Optic atrophy, Hypospadias, Megalocornea, Retinopathy, Congenital diaphragmatic hernia, Hernia, S... ORPHA:280
Hunter-Macdonald Syndrome
Epiphyseal dysplasia, Pectus carinatum, Joint contracture of the hand, Umbilical hernia, Delayed ... OMIM:611962
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart
Optic atrophy, Cerebellar vermis hypoplasia, Peters anomaly, Hypoplasia of the pons, Microphthalmia OMIM:616975
Floating-Harbor Syndrome
Broad thumb, Low posterior hairline, Broad fingertip, Generalized hypertrichosis, Dislocated radi... OMIM:136140
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Cataract, Iris coloboma, Anophthalmia, Microphthalmia ORPHA:2250
Amyotrophic Lateral Sclerosis 2, Juvenile
Abnormal lower motor neuron morphology, Abnormal upper motor neuron morphology, Amyotrophic later... OMIM:205100
Short-Rib Thoracic Dysplasia 21 Without Polydactyly
Dysgenesis of the cerebellar vermis, Lateral ventricle dilatation, Molar tooth sign on MRI OMIM:619479
Osteogenesis Imperfecta, Type Iv
Wormian bones, Femoral bowing present at birth, straightening with time, Otosclerosis OMIM:166220
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism
Short clavicles, Recurrent shoulder dislocation, Finger joint contracture, Down-sloping shoulders OMIM:212112
Microphthalmia, Syndromic 6
Lambdoidal craniosynostosis, Microcornea, Toe syndactyly, Renal hypoplasia, Finger syndactyly, Th... OMIM:607932
Ogden Syndrome
Microretrognathia, Broad hallux, Fine hair, Delayed cranial suture closure, Aplasia/Hypoplasia of... ORPHA:276432
Larsen Syndrome
Corneal opacity OMIM:150250
Ehlers-Danlos Syndrome, Musculocontractural Type, 1
Microcornea, Microretrognathia, Nephrotic syndrome, Joint dislocation, Umbilical hernia, Delayed ... OMIM:601776
Frontonasal Dysplasia 2
Cerebellar vermis hypoplasia, Agenesis of cerebellar vermis, Encephalocele, Microphthalmia OMIM:613451
Tarp Syndrome
Finger syndactyly, Clinodactyly, Hypoplasia of proximal radius, Horseshoe kidney, Micrognathia, L... ORPHA:2886
Holoprosencephaly-Postaxial Polydactyly Syndrome
Umbilical hernia, Encephalocele, Cerebellar hypoplasia, Hydrocephalus, Microphthalmia, Holoprosen... ORPHA:2166
Peters-Plus Syndrome
Facial hypertrichosis, Square pelvis bone, Micrognathia, Broad foot, Limited elbow movement, Shor... OMIM:261540
Oculogastrointestinal Neurodevelopmental Syndrome
Horseshoe kidney, Unilateral microphthalmos, Bilateral microphthalmos, Hirsutism OMIM:619318
1P31P32 Microdeletion Syndrome
Intraventricular hemorrhage, Ocular hypertension ORPHA:401986
Gaucher Disease
Abnormal macular morphology, Cherry red spot of the macula, Retinopathy, Death in infancy, Hematu... ORPHA:355
Juvenile Nephropathic Cystinosis
Renal phosphate wasting, Chronic kidney disease, Aminoaciduria, Abnormal cornea morphology, Corne... ORPHA:411634
Blepharophimosis, Ptosis, And Epicanthus Inversus
Microcornea, Microphthalmia OMIM:110100
Intellectual Disability-Seizures-Abnormal Gait-Facial Dysmorphism Syndrome
Lower-limb joint contracture, Increased axial length of the globe ORPHA:513456
Hypertelorism-Hypospadias-Polysyndactyly Syndrome
Abnormal penis morphology, Broad thumb, Finger syndactyly, Preaxial hand polydactyly, Delayed cra... ORPHA:2211
Fontaine Progeroid Syndrome
Micrognathia, Neonatal death, Low posterior hairline, Microphthalmia, Syndactyly, Coronal cranios... OMIM:612289
Restrictive Dermopathy 2
Short clavicles, Microretrognathia, Overtubulated long bones OMIM:619793
Six2-Related Frontonasal Dysplasia
Absent/hypoplastic paranasal sinuses, Premature posterior fontanelle closure, Metopic synostosis,... ORPHA:488437
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13
Multicystic kidney dysplasia, Optic nerve dysplasia, Hydronephrosis, Micropenis, Retinal dysplasi... OMIM:615287
Fraser Syndrome 1
Renal hypoplasia, Bilateral microphthalmos, Anophthalmia, Corneal opacity, Micropenis, Hypospadias OMIM:219000
Vascular Ehlers-Danlos Syndrome
Keratoconus, Congenital hip dislocation, Alopecia, Joint dislocation, Umbilical hernia, Abnormal ... ORPHA:286
Tenorio Syndrome
Hypertrichosis, Delayed cranial suture closure, Thick eyebrow, Keratoconjunctivitis sicca, Enuresis OMIM:616260
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome
Pulmonary arterial hypertension, Spontaneous, recurrent epistaxis, Papilledema, Corneal opacity ORPHA:2072
Microphthalmia, Isolated 8
Microphthalmia, True anophthalmia, Anophthalmia, Optic nerve hypoplasia OMIM:615113
Hereditary Acrokeratotic Poikiloderma
Abnormality of the urethra, Camptodactyly of finger, Keratoconjunctivitis, Telangiectasia of the ... ORPHA:2907
Chromosome 1P36 Deletion Syndrome, Distal
Abnormality of the hairline, Polyphagia, Short foot, Dysphagia, Hypospadias, Ectopic kidney, Shor... OMIM:607872
Orofaciodigital Syndrome Type 6
Cerebellar vermis hypoplasia, Molar tooth sign on MRI ORPHA:2754
Lenz-Majewski Hyperostotic Dwarfism
Abnormal penis morphology, Aplastic clavicle, Hypospadias, Finger syndactyly, Delayed cranial sut... ORPHA:2658
Machado-Joseph Disease Type 3
Abnormal lower motor neuron morphology, Spinocerebellar tract degeneration, Degeneration of anter... ORPHA:276244
Manitoba Oculotrichoanal Syndrome
Corneopalpebral synechiae, Anophthalmia, Microphthalmia OMIM:248450
Wilson Disease
Face of the giant panda sign, Sunflower cataract, Kayser-Fleischer ring, Decreased nerve conducti... OMIM:277900
Osteogenesis Imperfecta, Type Xi
Wormian bones, Protrusio acetabuli, Coxa vara OMIM:610968
Ogden Syndrome
Large posterior fontanelle, Delayed cranial suture closure, Micrognathia, Motor stereotypy, Dysph... OMIM:300855
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Sparse eyebrow, Absent nipple, Broad hallux, Branchial cyst, Clinodactyly, Micrognathia, Nail dys... OMIM:620186
Spastic Paraplegia 9A, Autosomal Dominant
Abnormal upper motor neuron morphology OMIM:601162
Osteopetrosis, Autosomal Recessive 8
Optic atrophy, Unilateral microphthalmos, Facial palsy OMIM:615085
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii
Micrognathia, Bilateral single transverse palmar creases, Abnormal metacarpal morphology, Large h... ORPHA:2636
Stuve-Wiedemann Syndrome 1
Elbow flexion contracture, Death in infancy, Knee flexion contracture, Pulmonary arterial hyperte... OMIM:601559
Menkes Disease
Narrow chest, Chondrocalcinosis, Umbilical hernia, Micrognathia, Bowing of the long bones, Bladde... ORPHA:565
Branchiooculofacial Syndrome
Cataract, Hypospadias, Short thumb, Preaxial hand polydactyly, Fusion of middle ear ossicles, Elb... OMIM:113620
Camurati-Engelmann Disease
Abnormal pelvic girdle bone morphology, Aplasia/Hypoplasia of the radius, Urinary retention, Abno... ORPHA:1328
Trisomy 10P
Short toe, Thumb contracture, Abnormal foot morphology, Abnormal hip joint morphology, Micrognath... ORPHA:171929
Frontonasal Dysplasia 3
Microphthalmia OMIM:613456
Bosma Arhinia Microphthalmia Syndrome
Cataract, Paranasal sinus hypoplasia, Microphthalmia, Micropenis, Hypospadias, Synophrys OMIM:603457
Geroderma Osteodysplasticum
Abnormal hair morphology, Femoral bowing, Tibial bowing, Wormian bones, Camptodactyly, Hyperexten... OMIM:231070
Familial Osteodysplasia, Anderson Type
Aplastic clavicle, Bifid femur, Elbow dislocation, Abnormal rib morphology, Thick eyebrow, Missin... ORPHA:2769
Isolated Thyroid-Stimulating Hormone Deficiency
Abnormal epiphysis morphology, Large posterior fontanelle, Delayed cranial suture closure, Umbili... ORPHA:90674
D-Bifunctional Protein Deficiency
Thoracic hypoplasia, Delayed cranial suture closure, Micrognathia, Large fontanelles, Renal cyst,... OMIM:261515
Holoprosencephaly 1
Alobar holoprosencephaly, Agenesis of corpus callosum, Cerebellar hypoplasia, Ethmocephaly, Micro... OMIM:236100
Degcags Syndrome
Chronic kidney disease, Toe syndactyly, Oral-pharyngeal dysphagia, Premature graying of hair, Gen... OMIM:619488
Mitochondrial Complex Iv Deficiency, Nuclear Type 10
Hypertrophic cardiomyopathy, Microphthalmia OMIM:619053
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome
Unilateral renal agenesis, Abnormal hair whorl, Optic nerve hypoplasia, Broad hallux, Postaxial p... ORPHA:457284
Lateral Meningocele Syndrome
Coarse hair, Umbilical hernia, Micrognathia, Wormian bones, Neurogenic bladder, Vertebral fusion,... OMIM:130720
Deafness, X-Linked 7
Unilateral microphthalmos OMIM:301018
Pallister-Killian Syndrome
Small hand, Postaxial foot polydactyly, Sparse scalp hair, Delayed cranial suture closure, Supern... OMIM:601803
Cardiofaciocutaneous Syndrome
Palmoplantar keratoderma, Fine hair, Aplasia/Hypoplasia of the eyebrow, Genu valgum, Sparse or ab... ORPHA:1340
Chilton-Okur-Chung Neurodevelopmental Syndrome
Micrognathia, Broad foot, Chordee, Pes planus, Sparse hair, Hypospadias, Self-injurious behavior,... OMIM:619841
Fetal Alcohol Syndrome
Generalized hirsutism, Micrognathia, Microphthalmia ORPHA:1915
Immunodeficiency 49
Hirsutism, Wormian bones, Micrognathia, Umbilical hernia OMIM:617237
Microcephaly-Lymphedema-Chorioretinopathy Syndrome
Cataract, Abnormal hair morphology, Leukonychia, Anophthalmia, Melanonychia, Microphthalmia, Abno... ORPHA:2526
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Multicystic kidney dysplasia, Long hallux, Genu valgum, Axenfeld anomaly, Arachnodactyly, Chordee... ORPHA:261537
Wiedemann-Rautenstrauch Syndrome
Lipoatrophy, Cataract, Pigmentary retinopathy, Optic atrophy, Increased subcutaneous truncal adip... ORPHA:3455
Cole-Carpenter Syndrome 1
Coronal craniosynostosis, Micrognathia, Wormian bones, Orbital craniosynostosis OMIM:112240
Coffin-Siris Syndrome 12
Slender finger, Highly arched eyebrow, Broad thumb, High anterior hairline, Short thumb, Ridged c... OMIM:619325
Fraser Syndrome 2
Unilateral renal agenesis, Renal hypoplasia, Ureteral agenesis, Low anterior hairline, Cutaneous ... OMIM:617666
Monosomy 9P
Hypospadias, Highly arched eyebrow, Abnormality of the tarsal bones, Micrognathia, Ureteropelvic ... ORPHA:261112
Chronic Graft Versus Host Disease
Urinary bladder inflammation, Fasciitis, Phimosis, Recurrent corneal erosions, Hematuria, Keratoc... ORPHA:99921
Hennekam-Beemer Syndrome
Lower limb asymmetry, Delayed cranial suture closure, Camptodactyly of finger, Micrognathia, Clin... ORPHA:2135
Fibrous Dysplasia Of Bone
Abnormal clavicle morphology, Lower limb asymmetry, Abnormal rib morphology, Abnormal tibia morph... ORPHA:249
Short-Rib Thoracic Dysplasia 15 With Polydactyly
Narrow chest, Cone-shaped epiphysis, Horseshoe kidney, Horizontal ribs, Aplasia of the epiglottis... OMIM:617088
Osteogenesis Imperfecta, Type Xx
Asymmetry of the thorax, Highly arched eyebrow, Narrow chest, Sparse lateral eyebrow, Wormian bon... OMIM:618644
Pallister-Hall Syndrome
Broad thumb, Toe syndactyly, Radial bowing, Polydactyly affecting the 4th finger, Overlapping toe... ORPHA:672
Holoprosencephaly 9
Alobar holoprosencephaly, Anophthalmia, Hydrocephalus, Microphthalmia, Partial agenesis of the co... OMIM:610829
Holzgreve Syndrome
Hand polydactyly, Abnormal metacarpal morphology, Abnormal rib morphology, Abnormal morphology of... ORPHA:2167
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function
Abnormal epiphysis morphology, Large posterior fontanelle, Short finger, Umbilical hernia, Delaye... ORPHA:226307
Hydrolethalus Syndrome 1
Hypospadias, Stillbirth, Preaxial hand polydactyly, Upper limb undergrowth, Micrognathia, Hydrone... OMIM:236680
Mowat-Wilson Syndrome
Multicystic kidney dysplasia, Genu valgum, Axenfeld anomaly, Chordee, Pes planus, Microphthalmia,... ORPHA:2152
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Ocular hypertension, Increased urinary type 1 collagen N-terminal telopeptide level ORPHA:93315
Microphthalmia, Syndromic 9
Renal hypoplasia, Bilateral microphthalmos, Horseshoe kidney, Micrognathia, Anophthalmia, Neonata... OMIM:601186
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type
Heart murmur, Microphthalmia ORPHA:2728
Matthew-Wood Syndrome
Renal hypoplasia, Horseshoe kidney, Vesicoureteral reflux, Anophthalmia, Microphthalmia ORPHA:2470
Plague
Mydriasis, Hypotension, Conjunctival hyperemia, Arrhythmia, Hematemesis, Tachycardia ORPHA:707
Orofaciodigital Syndrome Type 14
Dilated fourth ventricle, Partial agenesis of the corpus callosum, Dandy-Walker malformation, Mol... ORPHA:434179
Fraser Syndrome
Toe syndactyly, Finger syndactyly, Umbilical hernia, Myelomeningocele, Wide pubic symphysis, Ence... ORPHA:2052
Rapid-Onset Childhood Obesity-Hypothalamic Dysfunction-Hypoventilation-Autonomic Dysregulation Syndrome
Abnormal midbrain morphology, Abnormal autonomic nervous system physiology ORPHA:293987
Hypermobile Ehlers-Danlos Syndrome
Keratoconus, Joint dislocation, Elbow dislocation, Umbilical hernia, Abnormal foot morphology, Ab... ORPHA:285
Digeorge Syndrome
Unilateral renal agenesis, Umbilical hernia, Renal insufficiency, Inguinal hernia, Hydronephrosis... OMIM:188400
Wrinkly Skin Syndrome
Sparse hair, Congenital hip dislocation, Deep plantar creases, Umbilical hernia, Multiple palmar ... ORPHA:2834
Cryptophthalmos, Unilateral Or Bilateral, Isolated
Microphthalmia OMIM:123570
Craniofacial Microsomia 1
Multicystic kidney dysplasia, Block vertebrae, Occipital encephalocele, Cervical ribs, Genu valgu... OMIM:164210
Oculotrichoanal Syndrome
Anophthalmia, Microphthalmia 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
Adams-Oliver Syndrome 1
Aortic valve stenosis, Encephalocele, Pulmonary arterial hypertension, Microphthalmia, Hypertensi... OMIM:100300
Medulloblastoma
Delayed cranial suture closure ORPHA:616
Isolated Arrhinia
Microphthalmia ORPHA:1134
Treacher Collins Syndrome 1
Preauricular hair displacement, Micrognathia, Sparse lower eyelashes, Bilateral microphthalmos OMIM:154500
Nail-Patella-Like Renal Disease
Proteinuria, Microscopic hematuria, Renal insufficiency 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.

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MGI Allele Allele Type Produced
Lmx1btm2a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells
Lmx1btm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Lmx1btm2e(KOMP)Wtsi Targeted, non-conditional allele ES Cells

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