Gene Summary

lysine acetyltransferase 14
ATAC2,  2510008M08Rik,  Csrp2bp,  D2Ertd473e,  D2Wsu131e

IMPC Data Collections

IMPC Phenotype Summary

Not Significant
Not tested


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

Phenotype System Allele Zyg Sex Life Stage P Value
abnormal iris morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 2.06×10-06
abnormal pupil morphology Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.04×10-07
increased circulating creatine kinase level Kat14tm1a(KOMP)Wtsi HOM   Early adult 2.78×10-06
abnormal eye pigmentation Kat14tm1a(KOMP)Wtsi HOM Early adult 3.00×10-06
decreased hemoglobin content Kat14tm1a(KOMP)Wtsi HOM Early adult 2.68×10-05
abnormal tooth morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 3.83×10-05
decreased bone mineral content Kat14tm1a(KOMP)Wtsi HOM   Early adult 4.06×10-05
abnormal eyelid aperture Kat14tm1a(KOMP)Wtsi HOM Early adult 3.81×10-09
abnormal eye size Kat14tm1a(KOMP)Wtsi HOM Early adult 1.43×10-08
decreased body length Kat14tm1a(KOMP)Wtsi HOM Early adult 8.93×10-09
abnormal maxilla morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 1.47×10-05
decreased body weight Kat14tm1a(KOMP)Wtsi HOM Early adult 1.80×10-07
corneal vascularization Kat14tm1a(KOMP)Wtsi HOM Early adult 2.22×10-05
abnormal eye morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 7.07×10-05
eyelids fail to open Kat14tm1a(KOMP)Wtsi HOM Early adult 4.77×10-09
abnormal cranium morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 1.89×10-06
corneal opacity Kat14tm1a(KOMP)Wtsi HOM Early adult 9.29×10-07
abnormal cornea morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 4.61×10-07
vertebral fusion Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.93×10-05
decreased lean body mass Kat14tm1a(KOMP)Wtsi HOM   Early adult 2.29×10-05

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lacZ Expression

An assay measuring the expression of lacZ shows the tissue where the gene is expressed.

Anatomy Images Zygosity Mutant Expr
Adrenal gland N/A heterozygote 0.0% (0 of 2)
Aorta N/A heterozygote Not available
Blood vessel N/A heterozygote 0.0% (0 of 2)
Bone N/A heterozygote 0.0% (0 of 2)
Brain N/A heterozygote 100% (2 of 2)
Brainstem N/A heterozygote Not available
Brown adipose tissue N/A heterozygote 0.0% (0 of 2)
Cartilage tissue N/A heterozygote 0.0% (0 of 2)
Cerebellum N/A heterozygote Not available
Cerebral cortex N/A heterozygote Not available
Eye N/A heterozygote 0.0% (0 of 2)
Gall bladder N/A heterozygote 0.0% (0 of 2)
Heart N/A heterozygote 0.0% (0 of 2)
Hippocampus N/A heterozygote Not available
Hypothalamus N/A heterozygote Not available
Kidney N/A heterozygote 0.0% (0 of 2)
Large intestine N/A heterozygote 0.0% (0 of 2)
Liver N/A heterozygote 0.0% (0 of 2)
Lower urinary tract N/A heterozygote 0.0% (0 of 2)
Lung N/A heterozygote 0.0% (0 of 2)
Lymph node N/A heterozygote 0.0% (0 of 2)
Mammary gland N/A heterozygote 0.0% (0 of 2)
Esophagus N/A heterozygote 0.0% (0 of 2)
Olfactory lobe N/A heterozygote Not available
Ovary N/A heterozygote 0.0% (0 of 2)
Oviduct N/A heterozygote 0.0% (0 of 2)
Pancreas N/A heterozygote 0.0% (0 of 2)
Parathyroid gland N/A heterozygote Not available
Peripheral nervous system N/A heterozygote 100% (2 of 2)
Peyer's patch N/A heterozygote 0.0% (0 of 2)
Pituitary gland N/A heterozygote 0.0% (0 of 2)
Prostate gland N/A heterozygote 0.0% (0 of 2)
Skeletal muscle tissue N/A heterozygote 50% (1 of 2)
Skin N/A heterozygote 0.0% (0 of 2)
Small intestine N/A heterozygote 0.0% (0 of 2)
Spinal cord N/A heterozygote 100% (2 of 2)
Spleen N/A heterozygote 0.0% (0 of 2)
Stomach N/A heterozygote 0.0% (0 of 2)
Striatum N/A heterozygote Not available
Testis N/A heterozygote 0.0% (0 of 2)
Thymus N/A heterozygote 0.0% (0 of 2)
Thyroid gland N/A heterozygote Not available
Trachea N/A heterozygote Not available
Uterus N/A heterozygote 0.0% (0 of 2)
White adipose tissue N/A heterozygote 0.0% (0 of 2)
No Embryo expression data was found for this gene.

Background staining occurs in wild type mice and embryos at an incidental rate.

Anatomy Background staining in controls (WT)
adrenal gland 0.67% (4 of 598)
aorta 0.17% (1 of 598)
blood vessel 0.0%
bone 0.0%
brain 0.84% (5 of 598)
brainstem 0.33% (2 of 598)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 598)
cerebellum 0.5% (3 of 598)
cerebral cortex 0.33% (2 of 598)
eye 0.0%
gall bladder 0.0%
heart 0.33% (2 of 598)
hippocampus 0.5% (3 of 598)
hypothalamus 0.33% (2 of 598)
kidney 4.52% (27 of 598)
large intestine 5.35% (32 of 598)
liver 0.0%
lower urinary tract 0.17% (1 of 598)
lung 0.33% (2 of 598)
lymph node 0.17% (1 of 598)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.33% (2 of 598)
ovary 0.17% (1 of 598)
oviduct 0.0%
pancreas 0.84% (5 of 598)
parathyroid gland 0.17% (1 of 576)
peripheral nervous system 0.33% (2 of 598)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 598)
prostate gland 2.17% (13 of 598)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 598)
small intestine 5.35% (32 of 598)
spinal cord 0.5% (3 of 598)
spleen 0.5% (3 of 598)
stomach 3.68% (22 of 598)
striatum 0.5% (3 of 598)
testis 1% (6 of 598)
thymus 0.17% (1 of 598)
thyroid gland 3.01% (18 of 598)
trachea 0.5% (3 of 598)
uterus 0.33% (2 of 598)
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

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 Kat14 mutations

The analysis uses data from IMPC, along with published data on other mouse mutants, in comparison to human disease reports in OMIM, Orphanet, and DECIPHER.

Phenotype comparisons summarize the similarity of mouse phenotypes with human disease phenotypes.

No human diseases associated to this gene by orthology or annotation.

The table below shows human diseases predicted to be associated to Kat14 by phenotypic similarity.

Disease Similarity of
Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Corneal dystrophy, Corneal opacity, Band keratopathy OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
Spondyloepiphyseal Dysplasia With Punctate Corneal Dystrophy
Punctate corneal dystrophy OMIM:183850
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Schnyder Corneal Dystrophy
Corneal dystrophy, Crystalline corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Central corneal dystrophy, Corneal dystrophy OMIM:217600
Cataract-Microcornea Syndrome
Microcornea, Cataract, Iris coloboma, Corneal opacity, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Corneal opacity, Ectopia lentis OMIM:613086
Keratitis, Hereditary
Keratitis, Opacification of the corneal stroma OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Granular corneal dystrophy, Punctate corneal dystrophy, Cataract, Nodular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Corneal dystrophy, Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy OMIM:121820
Abnormality of the vertebral column, Abnormal vertebral morphology, Corneal opacity ORPHA:351
Winchester Syndrome
Kyphosis, Arthropathy, Generalized osteoporosis, Corneal opacity, Carpal osteolysis, Gingival ove... OMIM:277950
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal opacity, Corneal guttata, Corneal stromal edema OMIM:613267
Autosomal Dominant Keratitis
Coloboma, Limbal stem cell deficiency, Abnormal corneal limbus morphology, Corneal neovasculariza... ORPHA:2334
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Microcornea, Corneal opacity, Microphthalmia, Recurrent respiratory in... ORPHA:2432
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Central corneal dystrophy, Astigmatism, Subepithelial corneal opacities, Opacification of the cor... ORPHA:98960
Oculodentodigital Dysplasia, Autosomal Recessive
Epicanthus, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturation, Sparse eyelashe... OMIM:257850
Macular Dystrophy, Corneal
Recurrent corneal erosions, Corneal dystrophy, Punctate opacification of the cornea OMIM:217800
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal dystrophy, Corneal opacity ORPHA:3177
Corneal Dystrophy, Punctiform And Polychromatic Pre-Descemet
Posterior corneal stroma punctiform multicolored opacities OMIM:619871
Corneal Endothelial Dystrophy
Increased corneal thickness, Corneal dystrophy, Abnormal Descemet membrane morphology, Opacificat... OMIM:217700
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Aplasia/Hypoplasia of the iris, Ptosis, Cataract, Hypopigmentation of hair, Corneal opacity, Pers... ORPHA:1067
Limbal Stem Cell Deficiency
Opacification of the corneal epithelium, Generalized opacification of the cornea, Blepharospasm, ... ORPHA:171673
2Q24 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Small for gestational age, Short philtru... ORPHA:1617
Lattice Corneal Dystrophy Type I
Corneal scarring, Central opacification of the cornea, Corneal stromal edema, Lattice corneal dys... ORPHA:98964
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Short Syndrome
Abnormal pupil morphology, Megalocornea, Abnormal mandible morphology, Posterior embryotoxon, Wei... ORPHA:3163
Gorlin Syndrome
Vertebral fusion, Mandibular prognathia, Epicanthus, Vertebral wedging, Iris coloboma, Cataract, ... ORPHA:377
Keratoconus Posticus Circumscriptus
Cleft upper lip, Recurrent urinary tract infections, Abnormal vertebral segmentation and fusion, ... OMIM:244600
Ring Dermoid Of Cornea
Abnormal conjunctiva morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Abnorma... OMIM:180550
Cataract 21, Multiple Types
Cortical pulverulent cataract, Cerulean cataract, Microcornea, Iris coloboma, Peters anomaly, Cor... OMIM:610202
Dental malocclusion, Mandibular prognathia, Narrow palate, Avascular necrosis, Kyphosis, Widely s... ORPHA:61
Autoinflammation With Arthritis And Dyskeratosis
Hypereosinophilia, Keratoconjunctivitis sicca, Punctate keratitis, Corneal neovascularization, Uv... OMIM:617388
Pupillary Membrane, Persistence Of
Megalocornea, Persistent pupillary membrane, Developmental cataract OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Corneal dystrophy, Opacification of the corneal stroma OMIM:217400
Aarskog-Scott Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Cleft upper lip, Megalocornea, Abnormali... ORPHA:915
Vernal Keratoconjunctivitis
Abnormal conjunctiva morphology, Abnormal cornea morphology, Punctate keratitis, Corneal neovascu... ORPHA:70476
Cornea Plana 2, Autosomal Recessive
Corneal arcus, Corneal opacity, Decreased corneal thickness, Flat cornea, Sclerocornea OMIM:217300
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Corneal dystrophy, Opacification of the corneal stroma OMIM:271310
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Upslanted palpebral fissure, Ptosis, Iris cyst, Epicanthus OMIM:620086
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal degeneration, Descemet Membrane Folds, Corneal guttata, Corneal stromal edema, Corneal dy... OMIM:136800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Posterior embryotoxon, Optic atrophy, Ptosis, Cataract, Iris coloboma, Corneal opacity, Chorioret... ORPHA:1473
Mucolipidosis Type Iii
Hyperlordosis, Craniofacial hyperostosis, Corneal opacity, Cleft palate, Joint stiffness, Abnorma... ORPHA:577
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Anterior Segment Dysgenesis 6
Developmental glaucoma, Posterior synechiae of the anterior chamber, Abnormal Descemet membrane m... OMIM:617315
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Coloboma, Orbital cyst, Microcornea OMIM:251505
Corneal Dystrophy, Reis-Bucklers Type
Corneal opacity, Opacification of the corneal stroma, Corneal erosion, Corneal dystrophy OMIM:608470
Klippel-Feil Syndrome 3, Autosomal Dominant
Cervical C3/C4 vertebral fusion, Iris coloboma, Chorioretinal coloboma, Thoracic scoliosis, Cervi... OMIM:613702
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Corneal opacity, Band keratopathy, Abnormal corneal endothelium morphology ORPHA:293621
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Scoliosis, Corneal opacity, Thin vermilion border, Abnormal form of the vertebral b... ORPHA:2370
Atopic Keratoconjunctivitis
Abnormal eyelid morphology, Keratoconjunctivitis sicca, Corneal neovascularization, Corneal opaci... ORPHA:163934
Anterior Segment Dysgenesis 7
Ocular anterior segment dysgenesis, Anterior synechiae of the anterior chamber, Microcornea, Buph... OMIM:269400
Kid Syndrome
Gingivitis, Corneal erosion, Keratoconjunctivitis sicca, Punctate keratitis, Recurrent cutaneous ... ORPHA:477
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:101082
Myopathy, Tubular Aggregate, 1
Abnormal pupil morphology, Flexion contracture, Joint contracture, Elevated circulating creatine ... OMIM:160565
Kbg Syndrome
Vertebral fusion, Long philtrum, Thoracic kyphosis, Synophrys, Oligodontia, Long palpebral fissur... ORPHA:2332
Granular Corneal Dystrophy Type Ii
Granular corneal dystrophy, Central opacification of the cornea, Corneal crystals, Subepithelial ... ORPHA:98963
Microphthalmia, Isolated, With Coloboma 10
Microcoria, Iris coloboma, Microphthalmia, Chorioretinal coloboma OMIM:616428
Aniridia 1
Corneal erosion, Bilateral ptosis, Hypoplasia of the iris, Corneal neovascularization, Ectopia le... OMIM:106210
Multicentric Carpotarsal Osteolysis Syndrome
Wrist swelling, Wrist pain, Micrognathia, Metatarsal osteolysis, Ankle pain, Hypertension, Hypopl... OMIM:166300
Spondylocostal Dysostosis 1, Autosomal Recessive
Vertebral fusion, Back pain, Block vertebrae, Vertebral segmentation defect, Kyphoscoliosis, Shor... OMIM:277300
Xeroderma Pigmentosum, Complementation Group D
Conjunctivitis, Telangiectasia, Entropion, Keratoconjunctivitis sicca, Corneal neovascularization... OMIM:278730
Trisomy 9P
Abnormal pupil morphology, Downslanted palpebral fissures, Non-midline cleft lip, Sacral dimple, ... ORPHA:236
Developmental And Speech Delay Due To Sox5 Deficiency
Vertebral fusion, Narrow palate, Optic atrophy, Exaggerated median tongue furrow, Butterfly verte... ORPHA:313892
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Congenital ptosis, Posterior fusion of lumbosacral vertebrae OMIM:192800
Scheie Syndrome
Genu valgum, Mandibular prognathia, Retinal degeneration, Aortic regurgitation, Spondylolisthesis... OMIM:607016
Ophthalmomandibulomelic Dysplasia
Camptodactyly of finger, Obtuse angle of mandible, Megalocornea, Radioulnar dislocation, Temporom... ORPHA:2741
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Fused cervical vertebrae, Antecubital pterygium, Short neck, Scoliosis, Clef... OMIM:618469
Proteus-Like Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Splenomegaly, Mandibular prognathia, I... ORPHA:2969
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Vertebral fusion, Mandibular prognathia, Patellar dislocation, Kyphosis, Epicanthus, Hypodontia, ... ORPHA:2916
Harel-Yoon Syndrome
Mandibular prognathia, Optic atrophy, Micrognathia, Developmental cataract, Hypertrophic cardiomy... OMIM:617183
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Abnormal Descemet membrane morphology, Corneal stromal edema, Increased co... ORPHA:293603
Peters Anomaly
Developmental glaucoma, Central opacification of the cornea, Anterior synechiae of the anterior c... ORPHA:708
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Finger joint hypermobility, Limbal stem cell deficiency, Corneal neovascularizatio... OMIM:615225
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Downslanted palpebral fissures, Mandibular prognathia, Long philtrum, Deep philtrum, Epicanthus, ... OMIM:152950
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Conjunctivitis, Downslanted palpebral fissures, Long philtrum, Wide mouth, Micrognathia, Oligodon... OMIM:602562
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Dental Anomalies And Short Stature
Intervertebral space narrowing, Mandibular prognathia, Widely spaced teeth, Microdontia, Narrow v... OMIM:601216
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Elbow flexion contracture, Camptodactyly, Elbow contracture, Short neck, Cleft palate, Arthrogryp... OMIM:178110
Bartsocas-Papas Syndrome 2
Ankyloblepharon, Micrognathia, Axillary pterygium, Antecubital pterygium, Popliteal pterygium, Co... OMIM:619339
Distal Monosomy 6P
Downslanted palpebral fissures, Posterior embryotoxon, Epicanthus, Hypoplasia of the iris, Microg... ORPHA:96125
Alagille Syndrome
Abnormal pupil morphology, Downslanted palpebral fissures, Butterfly vertebral arch, Micrognathia... ORPHA:52
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Hyperopic astigmatism, Blepharophimosis, Hypop... ORPHA:397973
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Dental malocclusion, Enamel hypoplasia, Unilateral narrow palpebral fissure, Micro... OMIM:618727
Otodental Syndrome
Abnormal molar morphology, Odontoma, Long philtrum, Periodontitis, Delayed eruption of teeth, Ret... ORPHA:2791
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Retrognathia, Downslanted palpebral fissures, Epicanthus, Synophrys, Abnormality of retinal pigme... ORPHA:1390
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Lacrimoauriculodentodigital Syndrome
Micrognathia, Microdontia, Keratoconjunctivitis sicca, Bifid uvula, Abnormal lacrimal gland morph... ORPHA:2363
Corneal Dystrophy, Posterior Polymorphous, 1
Anterior synechiae of the anterior chamber, Uveal ectropion, Abnormal Descemet membrane morpholog... OMIM:122000
Mosaic corneal dystrophy, Megalocornea, Corneal arcus, Iris transillumination defect, Deep anteri... OMIM:309300
Anterior Segment Dysgenesis 8
Iris transillumination defect, Persistent pupillary membrane, Hypoplasia of the iris, Uveal ectro... OMIM:617319
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Posterior fusion of lumbosacral vertebrae, Tarsal synostosis, Ptosis, Joint stiffn... ORPHA:2064
Multiple Pterygium Syndrome, X-Linked
Increased susceptibility to fractures, Vertebral fusion, Cleft upper lip, Flexion contracture, Ab... OMIM:312150
Woolly Hair
Abnormal pupil morphology, Hypopigmentation of hair, Cataract, Sparse lateral eyebrow ORPHA:170
Oculomaxillofacial Dysostosis
Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid morphology, Micrognat... ORPHA:1794
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Lipomas of eyelids, Coloboma, Lacrimal punctal atresia, Hypoplasia of the maxilla... ORPHA:2399
Stickler Syndrome Type 1
Long philtrum, Hypoplasia of the maxilla, Cataract, Joint hyperflexibility, Platyspondyly, Retina... ORPHA:90653
Gómez-López-Hernández Syndrome
Corneal opacity, Telecanthus, Thin vermilion border ORPHA:1532
Koolen-De Vries Syndrome
Vertebral fusion, Narrow palate, Kyphosis, Epicanthus, Blepharophimosis, Vertebral segmentation d... ORPHA:96169
Hemoglobin D Disease
Anemia, Reduced alpha/beta synthesis ratio, HbS hemoglobin, Increased HbA2 hemoglobin, Reduced he... ORPHA:90039
Kniest Dysplasia
Short neck, Enlarged joints, Delayed patellar ossification, Cleft palate, Aplasia/Hypoplasia of t... ORPHA:485
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Thoracolumbar scoliosis, Flexion contracture, High palate, Long philtrum, Micrognathia, Acetabula... OMIM:616549
Verheij Syndrome
Vertebral fusion, Long philtrum, Coloboma, Hip dislocation, Thin upper lip vermilion, Short neck,... OMIM:615583
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Congenital Amegakaryocytic Thrombocytopenia
Anemia, Melanocytic nevus, Short neck, Decreased skull ossification, Scoliosis, Thrombocytopenia,... ORPHA:3319
Brachydactyly, Type B1
Thoracolumbar scoliosis, Hypoplastic sacrum, Vertebral fusion, Delayed cranial suture closure, Jo... OMIM:113000
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Macular Corneal Dystrophy
Hyperopic astigmatism, Corneal crystals, Punctate opacification of the cornea, Decreased corneal ... ORPHA:98969
Duane Retraction Syndrome
Blepharospasm, Patchy hypopigmentation of hair, Micrognathia, Camptodactyly, Hypoplastic iris str... ORPHA:233
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy, Corneal guttata OMIM:615523
Sjogren-Larsson Syndrome
Opacification of the corneal epithelium, Enamel hypoplasia, Retinal pigment epithelial atrophy, F... OMIM:270200
Granular Corneal Dystrophy Type I
Central corneal dystrophy, Abnormal corneal epithelium morphology, Central opacification of the c... ORPHA:98962
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Lagophthalmos, Tarsal sclerosis, Delayed skeletal maturation, Splenomegaly,... ORPHA:404454
Isolated Ectopia Lentis
Mandibular prognathia, Hypertension, Ectopia lentis, Cataract, Ectopia pupillae, Malar flattening... ORPHA:1885
Mucopolysaccharidosis Type 4
Hyperlordosis, Reduced bone mineral density, Genu valgum, Joint dislocation, Kyphosis, Wide mouth... ORPHA:582
Brachyolmia Type 1, Toledo Type
Intervertebral space narrowing, Irregular vertebral endplates, Back pain, Squared-off platyspondy... OMIM:271630
8Q21.11 Microdeletion Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, High palate, Epicanthus, Blepharophimosi... ORPHA:284160
Anterior Segment Dysgenesis 3
Rieger anomaly, Posterior embryotoxon, Axenfeld anomaly, Hypoplastic iris stroma, Peters anomaly,... OMIM:601631
Anterior Segment Dysgenesis 1
Ocular anterior segment dysgenesis, Posterior polar cataract, Microcornea, Peters anomaly, Opacif... OMIM:107250
Warburg-Cinotti Syndrome
Osteolytic defects of the phalanges of the hand, Wrist flexion contracture, High palate, Epicanth... OMIM:618175
Frontonasal Dysplasia 1
Coloboma, Hypoplastic frontal sinuses, Joint contracture of the hand, Epicanthus, Camptodactyly, ... OMIM:136760
Microphthalmia, Syndromic 13
Widely-spaced incisors, Microcornea, Ptosis, Iris coloboma, Kyphoscoliosis, Microphthalmia, Chori... OMIM:300915
Multiple Pterygium Syndrome, Lethal Type
Increased susceptibility to fractures, Vertebral fusion, Flexion contracture, Joint dislocation, ... OMIM:253290
Mucopolysaccharidosis, Type Ivb
Grayish enamel, Ovoid vertebral bodies, Genu valgum, Ulnar deviation of the wrist, Opacification ... OMIM:253010
Abnormal pupil morphology, Abnormal eyebrow morphology, Blepharophimosis, Microcornea, Median cle... ORPHA:3374
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Mandibular prognathia, Optic atrophy, Micrognathia, Optic nerve hypoplasia, Hypertrophic cardiomy... ORPHA:496790
22Q11.2 Deletion Syndrome
Hypoplasia of the thymus, Patellar dislocation, Epicanthus, Micrognathia, Short neck, Cleft palat... ORPHA:567
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal degeneration, Corneal guttata, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Corneal stromal edema, Abnormal Descemet membrane morphology, Keratitis, Corneal... OMIM:613270
Corneal Dystrophy, Thiel-Behnke Type
Corneal scarring, Corneal dystrophy, Juvenile epithelial corneal dystrophy OMIM:602082
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Prominence of the zygomatic bone, Synophrys, Everted lower lip vermilion, Promine... ORPHA:364577
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Otopalatodigital Syndrome Type 1
Downslanted palpebral fissures, Hypoplastic frontal sinuses, Increased bone mineral density, Olig... ORPHA:90650
Mucoepithelial Dysplasia, Hereditary
Keratoconjunctivitis, Erythematous oral mucosa, Corneal neovascularization, Cataract, Eosinophili... OMIM:158310
Oculocerebrorenal Syndrome Of Lowe
Gingivitis, Patellar dislocation, Delayed eruption of teeth, Micrognathia, Taurodontia, Hip dislo... ORPHA:534
Anterior Segment Dysgenesis 2
Posterior synechiae of the anterior chamber, Aniridia, Microcornea, Cataract, Peters anomaly, Cor... OMIM:610256
Keratoendotheliitis Fugax Hereditaria
Keratitis, Opacification of the corneal stroma, Conjunctival hyperemia OMIM:148200
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Sparse eyebrow, Lipomas of eyelids, Coloboma, Absent lacrimal punctum, ... OMIM:167730
Pyle Disease
Genu valgum, Mandibular prognathia, Limited elbow extension, Hypoplastic frontal sinuses, Delayed... OMIM:265900
Bartsocas-Papas Syndrome
Aplasia/Hypoplasia of the eyebrow, Ankyloblepharon, Micrognathia, Synostosis of joints, Median cl... ORPHA:1234
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Advanced ossification of carpal bones, Micrognathia, Tooth agenesis, Amelogenesis imperfecta, Cle... OMIM:618363
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
Megalocornea, High palate, Deep anterior chamber, Ectopia lentis, Microspherophakia, Iridodonesis OMIM:251750
Asymmetric Short Stature Syndrome
Fused cervical vertebrae, Micrognathia, Dental crowding, Lumbar scoliosis OMIM:108450
Fuchs Endothelial Corneal Dystrophy
Reduced number of corneal endothelial cells, Abnormal Descemet membrane morphology, Corneal opaci... ORPHA:98974
Malan Syndrome
Retrognathia, Downslanted palpebral fissures, Mandibular prognathia, Advanced eruption of teeth, ... OMIM:614753
Cohen Syndrome
Micrognathia, Iris coloboma, Tooth agenesis, Abnormal eyelash morphology, Thick eyebrow, Gingival... ORPHA:193
Woolly Hair Nevus
Widely-spaced incisors, Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupilla... ORPHA:79414
Regional Odontodysplasia
Gingivitis, Delayed eruption of teeth, Pulp calcification, Alveolar ridge overgrowth, Short denta... ORPHA:83450
Rutherfurd Syndrome
Corneal dystrophy, Opacification of the corneal stroma OMIM:180900
Hurler-Scheie Syndrome
Camptodactyly of finger, Pulmonary arterial hypertension, Recurrent respiratory infections, Kypho... OMIM:607015
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Osteoporosis of vertebrae, Short philtrum, Hypoplasia of the maxilla, Premature loss of teeth, Pl... OMIM:156510
Temtamy Preaxial Brachydactyly Syndrome
Proximal radio-ulnar synostosis, Talon cusp, Synostosis of carpals/tarsals, Tooth malposition, Pr... ORPHA:363417
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cryptophthalmos, Long philtrum, Epicanthus, Long eyelashes, Recurrent patellar dislocation, Micro... OMIM:615877
Exfoliation Syndrome
Phakodonesis, Pigment deposition in the trabecular meshwork, Mydriasis, Iris hypoperfusion, Lens ... OMIM:177650
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Ectopia lentis, Iris coloboma, Cleft palate, Genu valgum, Flexion cont... ORPHA:2712
X-Linked Recessive Ocular Albinism
Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Iris hypopigmentati... ORPHA:54
Koolen-De Vries Syndrome
Epicanthus, Iris hypopigmentation, Hip dislocation, Everted lower lip vermilion, Prominent metopi... OMIM:610443
Spondylocarpotarsal Synostosis Syndrome
Hyperlordosis, Vertebral fusion, Enamel hypoplasia, C2-C3 subluxation, Capitate-hamate fusion, Bl... OMIM:272460
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Hyperlordosis, Kyphosis, Fused cervical vertebrae, Micrognathia, Malar prominence, Abnormality of... ORPHA:2522
Anterior Segment Dysgenesis 5
Rieger anomaly, Posterior embryotoxon, Hypoplasia of the iris, Anterior synechiae of the anterior... OMIM:604229
Maxillonasal Dysplasia
Vertebral clefting, Mandibular prognathia, Patchy distortion of vertebrae, Microdontia, Hypoplasi... ORPHA:1248
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Macroglossia, Elbow contr... OMIM:606612
Flynn-Aird Syndrome
Increased bone density with cystic changes, Increased bone mineral density, Cataract, Kyphoscolio... OMIM:136300
Lamb-Shaffer Syndrome
Optic atrophy, Epicanthus, Thoracic kyphosis, Fused cervical vertebrae, Micrognathia, Scoliosis, ... ORPHA:530983
Isolated Klippel-Feil Syndrome
Abnormal sacrum morphology, Abnormal vertebral segmentation and fusion, Short neck, Abnormality o... ORPHA:2345
Mucopolysaccharidosis, Type Iva
Grayish enamel, Lumbar kyphosis, Short neck, Ovoid vertebral bodies, Anterior beaking of lumbar v... OMIM:253000
Frontometaphyseal Dysplasia 1
Camptodactyly of finger, Wrist flexion contracture, Selective tooth agenesis, Delayed eruption of... OMIM:305620
Cohen Syndrome
Downslanted palpebral fissures, Childhood-onset truncal obesity, Leukopenia, Genu valgum, Macrodo... OMIM:216550
Multiple Synostoses Syndrome 2
Vertebral fusion, Humeroradial synostosis, Finger symphalangism, Carpal synostosis, Proximal symp... OMIM:610017
Posterior Polymorphous Corneal Dystrophy
Reduced number of corneal endothelial cells, Anterior synechiae of the anterior chamber, Abnormal... ORPHA:98973
Brittle Cornea Syndrome 1
Dentinogenesis imperfecta, Keratoglobus, Epicanthus, Joint laxity, Congenital hip dislocation, Sp... OMIM:229200
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Corneal scarring, Keratoconjunctivitis sicca, Subepithelial corneal opacit... ORPHA:293381
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Leukocoria, Posterior synechiae of the anterior chamber, Uveitis, Microcornea, Buphthalmos, Iris ... OMIM:221900
Congenital Rubella Syndrome
Anemia, Aplasia/Hypoplasia of the iris, Abnormality of retinal pigmentation, Cataract, Corneal op... ORPHA:290
Multiple Pterygium Syndrome, Escobar Variant
Neck pterygia, Flexion contracture, Multiple joint contractures, Epicanthus, Anterior clefting of... OMIM:265000
Wildervanck Syndrome
Fused cervical vertebrae, Lens subluxation, Short neck, Pseudopapilledema ORPHA:3456
Isolated Optic Nerve Hypoplasia/Aplasia
Pseudopapilledema, Aplasia/Hypoplasia of the iris, Unilateral microphthalmos, Optic nerve hypopla... ORPHA:137902
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
3Q29 Microduplication Syndrome
Downslanted palpebral fissures, High palate, Deep philtrum, Camptodactyly of toe, Aniridia, Iris ... ORPHA:251038
Otopalatodigital Syndrome Type 2
Camptodactyly of finger, Hypoplastic frontal sinuses, Micrognathia, Increased bone mineral densit... ORPHA:90652
Chromosome 8Q22.1 Duplication Syndrome
Short palpebral fissure, Upslanted palpebral fissure, Blepharophimosis, Narrow palpebral fissure,... OMIM:151200
Lateral Meningocele Syndrome
Downslanted palpebral fissures, Biconcave vertebral bodies, Vertebral fusion, High palate, Long p... OMIM:130720
Familial Dysautonomia
Abnormal pupil morphology, Avascular necrosis, Corneal erosion, Recurrent fractures, Hypertension... ORPHA:1764
Hurler-Scheie Syndrome
Spinal canal stenosis, Abnormal vertebral morphology, Limitation of joint mobility, Corneal opaci... ORPHA:93476
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Developmental glaucoma, Micrognathia, Downturned corners of mouth, Corneal opacity, Craniosynosto... ORPHA:1064
Lowry-Maclean Syndrome
Retrognathia, Downslanted palpebral fissures, Developmental glaucoma, Megalocornea, Talon cusp, D... ORPHA:2409
Congenital Primary Aphakia
Sclerocornea, Aplasia/Hypoplasia affecting the anterior segment of the eye, Congenital aphakia ORPHA:83461
Camptodactyly of finger, Bifid tongue, Hypoplastic frontal sinuses, Epicanthus, Hypoplasia of the... ORPHA:391474
Basal Cell Nevus Syndrome 1
Vertebral fusion, Cleft upper lip, Mandibular prognathia, Odontogenic keratocysts of the jaw, Orb... OMIM:109400
Ectopia Lentis Et Pupillae
Iris transillumination defect, Ectopia lentis, Cataract, Ectopia pupillae, Persistent pupillary m... OMIM:225200
Multicentric Osteolysis, Nodulosis, And Arthropathy
Thin bony cortex, Wrist flexion contracture, Delayed closure of the anterior fontanelle, Delayed ... OMIM:259600
Ramon Syndrome
Narrow palate, Delayed eruption of teeth, Gingival fibromatosis, Abnormality of retinal pigmentat... ORPHA:3019
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Abnormally prominent line of Schwalbe, Hip dislocation, Hypoplasia of the maxilla... OMIM:109120
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal dystrophy, Corneal guttata OMIM:613268
Larsen Syndrome
Hip dislocation, Elbow dislocation, Spina bifida occulta, Hypoplastic cervical vertebrae, Beaking... OMIM:150250
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Retinal hemorrhage, Ischemic stroke, Cerebral hemorrhage, Hemolytic anemia, Hypoplasia of the iri... OMIM:175780
Mucopolysaccharidosis, Type Vii
Flexion contracture, Short neck, Thick eyebrow, Gingival overgrowth, Anterior beaking of lumbar v... OMIM:253220
Gm1-Gangliosidosis, Type Iii
Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Kyphosis, Scoliosis, Platyspondyly,... OMIM:230650
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Fused cervical vertebrae, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 ve... OMIM:214300
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Hyperlordosis, Vertebral fusion, Kyphosis, Achilles tendon contracture, Macroglossia, Dilated car... OMIM:607155
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Flexion contracture, Restrictive cardiomyopathy, Epicanthus, Camptodactyly, Osteolysis involving ... ORPHA:88630
Iridocorneal Endothelial Syndrome
Abnormal migration of corneal endothelium, Central heterochromia, Posterior synechiae of the ante... ORPHA:64734
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Ocular anterior segment dysgenesis, Narrow palpebral fissure, Microcornea, Ptosis,... OMIM:615145
Spondylocostal Dysostosis 5
Vertebral fusion, Low back pain, Butterfly vertebrae, Short neck, Scoliosis, Hemivertebrae OMIM:122600
Erythrokeratodermia Variabilis
Irregular hyperpigmentation, Weight loss, Cataract, Corneal opacity, Hypermelanotic macule ORPHA:317
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Megalocornea-Intellectual Disability Syndrome
Downslanted palpebral fissures, Genu varum, Megalocornea, High palate, Kyphosis, Epicanthus, Hypo... ORPHA:2479
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Flexion contracture, Dilated cardiomyopathy, Developmental cataract, Hypertrophic cardiomyopathy,... OMIM:618815
Wagro Syndrome
Downslanted palpebral fissures, Mandibular prognathia, Micrognathia, Dental crowding, Hypertensio... OMIM:612469
Baraitser-Winter Syndrome 2
Retrognathia, Long philtrum, Wide mouth, Coloboma, Long palpebral fissure, Thin upper lip vermili... OMIM:614583
Oculoauricular Syndrome
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Iris cyst, Ocular anterior se... OMIM:612109
Carpenter Syndrome 1
Lateral displacement of patellae, Optic atrophy, Epicanthus, Micrognathia, Camptodactyly, Spina b... OMIM:201000
Abruzzo-Erickson Syndrome
Coloboma, Epicanthus, Radioulnar synostosis, Microcornea, Abnormal palate morphology, Iris colobo... ORPHA:921
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Sacral dimple, Vertebral segmentation defect, Vertebral fusion OMIM:618845
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Global systolic dysfunction, Fusion of midcervical facet joints, Widening of cervical spinal cana... OMIM:606842
Axenfeld-Rieger Syndrome, Type 1
Megalocornea, Rieger anomaly, Posterior embryotoxon, Abnormally prominent line of Schwalbe, Hypop... OMIM:180500
Osteoporosis-Pseudoglioma Syndrome
Increased susceptibility to fractures, Joint laxity, Osteopenia, Corneal opacity, Microphthalmia,... ORPHA:2788
Zellweger Syndrome
Brushfield spots, High palate, Posterior embryotoxon, Epicanthus, Micrognathia, Epiphyseal stippl... ORPHA:912
Cataract 1, Multiple Types
Posterior subcapsular cataract, Nuclear cataract, Pulverulent cataract, Microcornea OMIM:116200
Pelvis-Shoulder Dysplasia
Back pain, Hypoplastic acetabulae, Spina bifida occulta, Congenital hip dislocation, Iris colobom... OMIM:169550
Crouzon Syndrome
Conjunctivitis, Narrow palate, Melanocytic nevus, Hypopigmented skin patches, Hypoplasia of the m... ORPHA:207
Schimke Immuno-Osseous Dysplasia
Ischemic stroke, Microdontia, Abnormality of primary molar morphology, Short neck, Ovoid vertebra... ORPHA:1830
Cerebrooculofacioskeletal Syndrome 1
Knee flexion contracture, Flexion contracture, Long philtrum, Joint contracture of the hand, Dela... OMIM:214150
Axenfeld-Rieger Syndrome
Posterior embryotoxon, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, Everted lower lip... ORPHA:782
Atelosteogenesis, Type Iii
Horizontal sacrum, Micrognathia, Cervical kyphosis, Flat acetabular roof, Elbow dislocation, Cerv... OMIM:108721
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Oral ulcer, Abnormal mandible morphology, Abnormal number of teeth, Avascula... ORPHA:83451
Sialidosis Type 2
Osteoporosis, Flexion contracture, Corneal opacity, Kyphosis ORPHA:87876
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Increased intervertebral space, Lumbar platyspondyly, Corneal opacity, Beaking of vertebral bodie... OMIM:618961
Proboscis Lateralis
Abnormal paranasal sinus morphology, Abnormal nasolacrimal system morphology, Epicanthus, Abnorma... ORPHA:141099
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Epicanthus, Micrognathia, Synophrys, Recurrent sinusitis, Short neck, Beaking of vertebral bodies... OMIM:213980
Axenfeld-Rieger Syndrome, Type 3
Posterior embryotoxon, Posterior synechiae of the anterior chamber, Hypoplasia of the iris, Hypod... OMIM:602482
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Downslanted palpebral fissures, Leukopenia, Small for gestational age, Pulmonic ste... OMIM:301056
Al-Gazali Syndrome
Wrist flexion contracture, Recurrent fractures, Micrognathia, Failure to thrive, Osteopenia, Corn... OMIM:609465
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Vertebral fusion, Coloboma, Epicanthus, Vertebral segmentation defect, M... ORPHA:959
Martsolf Syndrome 1
Finger joint hypermobility, Epicanthus, Micrognathia, Cardiac arrest, Lumbar hyperlordosis, Avasc... OMIM:212720
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Spinal rigidity, Macroglossia, Elevated circulating creatine kinase concentratio... OMIM:613150
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Synophrys, Broad eyebrow, Narrow palpebral fissure, Hypoplasia of the ... OMIM:618302
Brittle Cornea Syndrome 2
Keratoglobus, Megalocornea, Decreased corneal thickness, Corneal perforation, Flat cornea, Kerato... OMIM:614170
Schimmelpenning-Feuerstein-Mims Syndrome
Recurrent fractures, Coloboma, Abnormality of dental morphology, Kyphoscoliosis, Hypophosphatemic... OMIM:163200
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Increased circulating ferritin concentration, Abnormal hemoglobin ORPHA:231249
Mucolipidosis Iii Gamma
Hyperlordosis, Genu valgum, Kyphosis, Joint stiffness, Aortic regurgitation, Short neck, Scoliosi... OMIM:252605
Craniolenticulosutural Dysplasia
High palate, Long philtrum, Wide mouth, Delayed eruption of teeth, Posterior Y-sutural cataract, ... ORPHA:50814
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, High palate, Kyphosis, Hypoplasia of the maxilla, Scoliosis, Slender build OMIM:300676
Norrie Disease
Leukocoria, Hypoplasia of the iris, Buphthalmos, Shallow anterior chamber, Cataract, Corneal opac... OMIM:310600
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Delayed eruption of teeth, Micrognathia, Delayed skeletal maturat... OMIM:601812
Craniofacial-Deafness-Hand Syndrome
Camptodactyly of finger, Downslanted palpebral fissures, Ulnar deviation of the wrist, Blepharoph... ORPHA:1529
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Decreased body weight, Small for gestational age, Hypoplasia of the maxill... ORPHA:93950
Dentinogenesis Imperfecta
Abnormal dental root morphology, Yellow-brown discoloration of the teeth, Finger joint hypermobil... ORPHA:49042
Amoebic Keratitis
Abnormal anterior chamber morphology, Abnormal corneal epithelium morphology, Corneal stromal ede... ORPHA:67043
Chromosome 8Q21.11 Deletion Syndrome
Short palpebral fissure, Downslanted palpebral fissures, High palate, Epicanthus, Micrognathia, S... OMIM:614230
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Coloboma, Cataract, Microphthalmia, Corneal opacity, Retinal detachment OMIM:613153
Geroderma Osteodysplasticum
Increased susceptibility to fractures, Biconcave vertebral bodies, Irregular vertebral endplates,... OMIM:231070
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Corneal opacity, Conical primary incisor, Curly eyelashes, Sparse eyelashes, Blep... OMIM:602400
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Abnormal sacrum morphology ORPHA:1436
Myhre Syndrome
Camptodactyly, Short neck, Cleft palate, Thick eyebrow, Vertebral fusion, Blepharophimosis, Limit... OMIM:139210
Alexander Disease
Microcoria OMIM:203450
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Abnormal pupil morphology, Retinal arteritis, Posterior synechiae o... ORPHA:209959
Osteolysis Syndrome, Recessive
Knee flexion contracture, Elbow flexion contracture, Hypoplasia of the maxilla, Metacarpal osteol... OMIM:259610
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Retinal dysplasia, Micropht... ORPHA:324416
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Cleft mandible, Exaggerated median tongue furrow, Synophrys, Micrognathia, Everted lower lip verm... OMIM:608670
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Ehlers-Danlos Syndrome, Classic-Like, 2
Shoulder dislocation, High palate, Generalized joint laxity, Bilateral ptosis, Micrognathia, Face... OMIM:618000
Peroxisome Biogenesis Disorder 2A (Zellweger)
Brushfield spots, Hypoplasia of the thymus, Joint contracture of the hand, Epicanthus, Micrognath... OMIM:214110
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Microdontia, Anterior chamber synechiae, Hypodontia, Short philtrum, Micro... OMIM:601499
Mucolipidosis Iv
Retinal degeneration, Opacification of the corneal stroma, Corneal opacity, Optic atrophy OMIM:252650
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Hyperphosphatemia, Mandibular prognathia, Melanocytic nevus, Delayed eruptio... OMIM:101800
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Retrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High palate, Fle... ORPHA:98791
Temtamy Syndrome
Downslanted palpebral fissures, Long philtrum, Lens luxation, Micrognathia, Hip dislocation, Ecto... OMIM:218340
Robinow Syndrome, Autosomal Recessive 1
Delayed cranial suture closure, Bifid tongue, Micrognathia, Dislocated radial head, Short neck, A... OMIM:268310
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Vertebral hypoplasia, Limb pain, Short neck, Ovoid vertebral bodies, Reduced bone mineral density... ORPHA:93315
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Optic atrophy, Synophrys, Hypoplasia of the maxilla, Thin upper lip vermi... OMIM:618737
Otodental Dysplasia
Enamel hypoplasia, Long philtrum, Coloboma, Delayed eruption of teeth, Pulp calcification, Taurod... OMIM:166750
Coffin-Lowry Syndrome
Optic atrophy, Delayed eruption of teeth, Epicanthus, Everted lower lip vermilion, Delayed skelet... ORPHA:192
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Hurler Syndrome
Cardiomyopathy, Biconcave vertebral bodies, Flexion contracture, Kyphosis, Bilateral ptosis, Micr... OMIM:607014
Delayed cranial suture closure, Micrognathia, Increased bone mineral density, Increased susceptib... ORPHA:763
Aicardi Syndrome
Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Butterfly vertebrae, Pro... OMIM:304050
Brachytelephalangic Chondrodysplasia Punctata
Vertebral hypoplasia, Stippling of the epiphyses of the distal phalanges of the hand, Epiphyseal ... ORPHA:79345
Intellectual Developmental Disorder, Autosomal Dominant 52
High palate, Lumbar scoliosis, Small for gestational age, Synophrys, Short philtrum, Astigmatism,... OMIM:617796
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Flexion contracture, Hip dislocation, Thoracic kyphoscoliosis, Generalized hypoplasia of dental e... OMIM:203550
Mosaic Trisomy 20
Retrognathia, Vertebral fusion, Kyphosis, Craniofacial asymmetry, Vertebral segmentation defect, ... ORPHA:1724
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal dystrophy, Corneal guttata OMIM:609141
Sanjad-Sakati Syndrome
Long philtrum, Recurrent respiratory infections, Micrognathia, Spinal canal stenosis, Patchy oste... ORPHA:2323
Persistent Hyperplastic Primary Vitreous
Hemorrhage of the eye, Tractional retinal detachment, Leukocoria, Hyaloid vascular remnant and re... ORPHA:91495
Microphthalmia, Syndromic 3
Vertebral fusion, Vertebral hypoplasia, Coloboma, Butterfly vertebrae, Optic nerve aplasia, Optic... OMIM:206900
Sialidosis Type 1
Kyphosis, Thick lower lip vermilion, Cataract, Delayed skeletal maturation, Scoliosis, Corneal op... ORPHA:812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Abnormality of retinal pigmentation, Platyspondyly, Lens subluxation, Ovoid vertebral bodies, Cor... ORPHA:85167
Microphthalmia, Syndromic 16
Ankyloblepharon, Microphthalmia, Sclerocornea OMIM:611038
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Abnormal sacrum morphology, Hypoplasia of the maxilla, Ptosis, Abnormal palate mor... ORPHA:93262
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Fused cervical vertebrae, Scoliosis, Prominent metopic ridge OMIM:309620
Lujan-Fryns Syndrome
Camptodactyly of finger, High palate, Micrognathia, Short philtrum, Hypoplasia of the maxilla, Sc... ORPHA:776
Amelogenesis Imperfecta
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Widely spa... ORPHA:88661
Gm1 Gangliosidosis
Camptodactyly of finger, Hyperlordosis, Mandibular prognathia, Long philtrum, Kyphosis, Weight lo... ORPHA:354
Gorlin-Chaudhry-Moss Syndrome
Abnormal eyelid morphology, Coronal craniosynostosis, Oligodontia, Hypoplasia of the maxilla, Ast... ORPHA:2095
Linear Skin Defects With Multiple Congenital Anomalies 3
Histiocytoid cardiomyopathy, Delayed eruption of primary teeth, Cardiac arrest, Dilated cardiomyo... OMIM:300952
Treacher-Collins Syndrome
Blepharospasm, Hypoplasia of the thymus, Micrognathia, Iris coloboma, Tooth agenesis, Abnormality... ORPHA:861
Stickler Syndrome
Epicanthus, Micrognathia, Cachexia, Hip dislocation, Ectopia lentis, Tooth agenesis, Slender buil... ORPHA:828
Andersen Cardiodysrhythmic Periodic Paralysis
Micrognathia, Delayed skeletal maturation, Palpitations, Cleft palate, Prolonged QTc interval, Sh... OMIM:170390
Ophthalmoplegia, Familial Static
Anisocoria, Ptosis OMIM:165000
Coloboma, Ocular, Autosomal Dominant
Optic nerve aplasia, Remnants of the hyaloid vascular system, Peters anomaly, Corneal opacity, Ch... OMIM:120200
Spondylodysplastic Ehlers-Danlos Syndrome
Flexion contracture, Patellar dislocation, Multiple joint contractures, Micrognathia, Elbow flexi... ORPHA:536471
Elsahy-Waters Syndrome
Delayed eruption of teeth, Synophrys, Bifid uvula, Phthisis bulbi, Thick eyebrow, Increased cup-t... OMIM:211380
Shashi-Pena Syndrome
Retrognathia, Kyphosis, Epicanthus, Synophrys, Accelerated skeletal maturation, Long eyelashes, T... OMIM:617190
Marshall Syndrome
Thick upper lip vermilion, Sparse eyebrow, Genu valgum, High palate, Long philtrum, Hypoplastic f... ORPHA:560
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Oculocerebral Hypopigmentation Syndrome, Cross Type
Anemia, Ocular albinism, Choroideremia, Iris hypopigmentation, Microdontia, Limitation of joint m... ORPHA:2719
Ring Chromosome 21 Syndrome
Thoracic hemivertebrae, Scoliosis, Fused thoracic vertebrae ORPHA:1445
Mucopolysaccharidosis Type 1
Avascular necrosis, Joint dislocation, Optic atrophy, Widely spaced teeth, Thick lower lip vermil... ORPHA:579
Sponastrime Dysplasia
Hip subluxation, Microcoria, Epicanthus, Microdontia, Ivory epiphyses of the phalanges of the han... ORPHA:93357
Ophthalmomandibulomelic Dysplasia
Megalocornea, Radioulnar dislocation, Temporomandibular joint ankylosis, Elbow dislocation, Decre... OMIM:164900
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Genu valgum, Small for gestational age, Disharmonious carpal bone, Hypoplasia of the maxilla, Fai... OMIM:608154
Hec Syndrome
Abnormal pupil morphology, Cardiomyopathy, Developmental cataract, Arrhythmia ORPHA:2119
Microcephalic Primordial Dwarfism, Montreal Type
Kyphosis, Vertebral segmentation defect, Micrognathia, Ptosis, Abnormal palate morphology, Scolio... ORPHA:2617
Apert Syndrome
Downslanted palpebral fissures, Mandibular prognathia, Narrow palate, Corneal erosion, Optic atro... ORPHA:87
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Iris hypopigmentation, Anterior synechiae of the anterior chamber, Tau... ORPHA:3214
Microcoria, Congenital
Microcoria, Hypoplasia of the iris dilator muscle OMIM:156600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Coloboma, Micrognathia, Abnormal optic disc morphology, Hip dislocation, Optic nerve hypoplasia, ... ORPHA:508498
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Downslanted palpebral fissures, Micrognathia, Supernumerary tooth, Limitation of joint mobility, ... ORPHA:3145
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Narrow palate, T lymphocytopenia, Abnormal B cell morphology, Epicanthus, Kyphosis, Short neck, H... OMIM:618223
Andersen-Tawil Syndrome
Polymorphic ventricular tachycardia, Torsade de pointes, Micrognathia, Ventricular arrhythmia, Pa... ORPHA:37553
Crouzon Syndrome
Conjunctivitis, Sagittal craniosynostosis, Mandibular prognathia, High palate, Abnormality of the... OMIM:123500
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Hump-shaped mound of bone in central and posterior portions of vertebral endplate, Back pain, Kyp... OMIM:313400
3Mc Syndrome 2
Downslanted palpebral fissures, Cleft upper lip, High palate, Limited elbow movement, Blepharophi... OMIM:265050
Dysostosis, Stanescu Type
Hyperlordosis, Kyphosis, Increased bone mineral density, Macroglossia, Hypoplasia of the maxilla,... ORPHA:1798
Megalocornea-Mental Retardation Syndrome
Downslanted palpebral fissures, Genu valgum, Megalocornea, High palate, Long philtrum, Epicanthus... OMIM:249310
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Camptodactyly of finger, Megalocornea, Mandibular prognathia, Long philtrum, Hypoplasia of the ma... ORPHA:1101
Wildervanck Syndrome
Fused cervical vertebrae, Pseudopapilledema OMIM:314600
Mucopolysaccharidosis, Type Vi
Flexion contracture, Hypoplastic acetabulae, Delayed eruption of teeth, Sinus tachycardia, Anteri... OMIM:253200
Frontometaphyseal Dysplasia
Camptodactyly of finger, Wrist flexion contracture, Micrognathia, Elbow flexion contracture, Bifi... ORPHA:1826
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Posterior lenticonus, Microcornea, Remnants of the hyaloid vascular system, Iris coloboma, Microp... ORPHA:231736
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Downslanted palpebral fissures, Long philtrum, Wide mouth, Epicanthus, Coloboma, Micrognathia, Jo... OMIM:618659
Cutis Laxa, Autosomal Dominant 3
Delayed cranial suture closure, Hip dislocation, Developmental cataract, Aortic regurgitation, Os... OMIM:616603
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Coloboma, Ocular anterior segment dysgenesis, Iris coloboma, Peters anomaly, Microphthalmia OMIM:610023
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
Herpes Simplex Virus Stromal Keratitis
Herpetiform corneal ulceration, Descemet Membrane Folds, Corneal stromal edema, Deep anterior cha... ORPHA:137599
Kbg Syndrome
Downslanted palpebral fissures, Vertebral arch anomaly, Vertebral fusion, Long philtrum, Thoracic... OMIM:148050
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormality of the knee, Epicanthus, Prominence of the premaxilla, Congenital hip dislocation, Ab... ORPHA:2412
Aicardi Syndrome
Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Block vertebrae, Butterfly vertebrae, Pro... ORPHA:50
Weill-Marchesani Syndrome 1
Tooth malposition, Narrow palate, Pulmonic stenosis, Abnormality of dental morphology, Spinal can... OMIM:277600
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Shoulder dislocation, Genu varum, Downslanted palpebral fissures, Long philtrum, Anterior vertebr... OMIM:171480
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Keratoconjunctivitis sicca, Microcornea, Cataract, Microphthalm... ORPHA:1806
Macrophthalmia, Colobomatous, With Microcornea
Macular atrophy, Coloboma, Microcornea OMIM:602499
Mucopolysaccharidosis Type 6
Genu valgum, Kyphosis, Thick lower lip vermilion, Macroglossia, Joint stiffness, Failure to thriv... ORPHA:583
Severe Oculo-Renal-Cerebellar Syndrome
Mandibular prognathia, Wide mouth, Optic atrophy, Malar prominence, Abnormality of retinal pigmen... ORPHA:2715
Mucolipidosis Iii Alpha/Beta
Mandibular prognathia, Hyperopic astigmatism, Retinal degeneration, Irregular carpal bones, Carpa... OMIM:252600
Goldberg-Shprintzen Syndrome
Downslanted palpebral fissures, Megalocornea, Corneal erosion, Synophrys, Oligodontia, Short phil... OMIM:609460
Chromosome 6Pter-P24 Deletion Syndrome
Short palpebral fissure, Downslanted palpebral fissures, Cleft upper lip, Telangiectasia, High pa... OMIM:612582
Pde4D Haploinsufficiency Syndrome
Hypotension, Irregular vertebral endplates, Mandibular prognathia, Long philtrum, Micrognathia, A... ORPHA:439822
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Long philtrum, Absent lacrimal punctum, Absent eyelashes, Thick vermilion border, Microretrognath... ORPHA:228396
Incontinentia Pigmenti
Camptodactyly of finger, Delayed eruption of teeth, Spina bifida occulta, Osteolysis, Eosinophili... ORPHA:464
Craniometadiaphyseal Dysplasia
Genu varum, Genu valgum, Mandibular prognathia, High palate, Downslanted palpebral fissures, Nata... OMIM:269300
Sifrim-Hitz-Weiss Syndrome
Short palpebral fissure, Epicanthus, Fused cervical vertebrae, Bifid uvula, Flat acetabular roof,... OMIM:617159
8Q22.1 Microdeletion Syndrome
Camptodactyly of finger, Sparse eyebrow, Long philtrum, Blepharophimosis, Submucous cleft hard pa... ORPHA:178303
Mosaic Trisomy 8
Camptodactyly of finger, High palate, Patellar aplasia, Vertebral segmentation defect, Micrognath... ORPHA:96061
Spondylocostal Dysostosis 4, Autosomal Recessive
Vertebral fusion, Block vertebrae, Vertebral segmentation defect, Spina bifida occulta, Abnormali... OMIM:613686
Oculocerebrocutaneous Syndrome
Wide mouth, Hypopigmented skin patches, Ptosis, Iris coloboma, Eyelid coloboma, Congenital hip di... ORPHA:1647
20P12.3 Microdeletion Syndrome
Downslanted palpebral fissures, Long philtrum, Epicanthus, Wolff-Parkinson-White syndrome, Hypopl... ORPHA:261295
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Hyperlordosis, Cleft upper lip, Aplasia/Hypoplasia of the eyebrow, Downslanted palpebral fissures... ORPHA:3253
Ifap Syndrome 1, With Or Without Bresheck Syndrome
Absent eyelashes, Butterfly vertebrae, Corneal neovascularization, Hip dislocation, Hypertension,... OMIM:308205
Wolf-Hirschhorn Syndrome
Epicanthus, Micrognathia, Hip dislocation, Iris coloboma, Abnormal sternal ossification, Delayed ... OMIM:194190
Nager Syndrome
Non-midline cleft lip, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Lower e... ORPHA:245
Cleft Lip/Palate
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... ORPHA:199306
Multiple Sulfatase Deficiency
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Smooth philtrum, Joint stiffness,... ORPHA:585
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Recurrent otitis media, Thin upper lip vermilion, Overweight, Cervical C... ORPHA:370010
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Retrognathia, Downslanted palpebral fissures, Phakodonesis, Dental malocclusion, High palate, Ant... OMIM:601552
Klippel-Feil Syndrome 1, Autosomal Dominant
Abnormal vertebral segmentation and fusion, Short neck, Scoliosis, Cleft palate, Cervical C2/C3 v... OMIM:118100
Mucolipidosis Type Iv
Microdontia, Abnormality of retinal pigmentation, Everted lower lip vermilion, Corneal opacity, G... ORPHA:578
Mucopolysaccharidosis Type 7
Anterior beaking of lumbar vertebrae, Epiphyseal stippling, Short neck, Scoliosis, Corneal opacit... ORPHA:584
Fanconi Anemia, Complementation Group I
Cafe-au-lait spot, Decreased body weight, Fused cervical vertebrae, Astigmatism, Short neck, Micr... OMIM:609053
Moebius Syndrome
Aplasia/Hypoplasia of the tongue, High palate, Epicanthus, Micrognathia, Microdontia, Everted low... ORPHA:570
Osteopetrosis, Autosomal Recessive 5
Hip subluxation, Anemia, Long philtrum, Mydriasis, Osteopetrosis, Micrognathia, Increased bone mi... OMIM:259720
De Barsy Syndrome
Downslanted palpebral fissures, Delayed closure of the anterior fontanelle, High palate, Generali... ORPHA:2962
Autosomal Recessive Cutis Laxa Type 2A
Delayed cranial suture closure, Downslanted palpebral fissures, Increased susceptibility to fract... ORPHA:357058
Dyggve-Melchior-Clausen Disease
Genu valgum, Hypoplastic acetabulae, Broad carpal bones, Hypoplasia of the odontoid process, Abno... ORPHA:239
Wilson Disease
Anemia, Back pain, Weight loss, Arthritis, Bone pain, Failure to thrive, Kayser-Fleischer ring, J... ORPHA:905
Weill-Marchesani Syndrome 2
Thin bony cortex, Elbow flexion contracture, Ectopia lentis, Delayed skeletal maturation, Iridodo... OMIM:608328
Crisponi/Cold-Induced Sweating Syndrome 1
Retrognathia, High palate, Long philtrum, Micrognathia, Elbow flexion contracture, Camptodactyly,... OMIM:272430
Alpha-Mannosidosis, Adult Form
Macroglossia, Recurrent gastroenteritis, Aortic regurgitation, Cataract, Osteopenia, Corneal opac... ORPHA:309288
Downslanted palpebral fissures, High palate, Long philtrum, Epicanthus, Micrognathia, Anisopoikil... ORPHA:46059
Knobloch Syndrome 1
Horizontal eyebrow, Iris transillumination defect, Epicanthus, Developmental cataract, Joint hype... OMIM:267750
Mosaic Trisomy 9
Camptodactyly of finger, High palate, Micrognathia, Hip dislocation, Limitation of joint mobility... ORPHA:99776
Angelman Syndrome
Hypopigmentation of the skin, Mandibular prognathia, Wide mouth, Widely spaced teeth, Fair hair, ... OMIM:105830
Split-Hand/Foot Malformation 3
High palate, Camptodactyly, Microretrognathia, Hypoplasia of the maxilla, Narrow mouth, Cleft palate OMIM:246560
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Megalocornea, Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, Optic nerv... OMIM:236670
Hemoglobin-Delta locus
Imbalanced hemoglobin synthesis, Anemia OMIM:142000
Mental Retardation Syndrome, Belgian Type
Mandibular prognathia, Coloboma, Eunuchoid habitus OMIM:249599
Juvenile Sialidosis Type 2
Optic atrophy, Cataract, Protruding tongue, Corneal opacity, Gingival overgrowth, Abnormal form o... ORPHA:93399
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis
Downslanted palpebral fissures, Micrognathia, Persistence of hemoglobin F, Macrocytic anemia, Inc... OMIM:300946
Hutchinson-Gilford Progeria Syndrome
Left ventricular diastolic dysfunction, Delayed eruption of teeth, Short lingual frenulum, Microg... ORPHA:740
Flynn-Aird Syndrome
Kyphosis, Cachexia, Cataract, Scoliosis, Carious teeth, Joint stiffness ORPHA:2047
Oculopalatocerebral Syndrome
Leukocoria, Cleft palate, Microphthalmia OMIM:257910
Alpha-Mannosidosis, Infantile Form
Osteolysis, Short neck, Genu valgum, Avascular necrosis, Macroglossia, Recurrent gastroenteritis,... ORPHA:309282
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Downslanted palpebral fissures, Hyperextensibility at wrists, Flexion contracture, High palate, L... ORPHA:481152
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Conjunctivitis, Conical tooth, Cleft upper lip, Selective tooth agenesis, Absent eyelashes, Ankyl... OMIM:106260
15Q24 Microdeletion Syndrome
Downslanted palpebral fissures, Long philtrum, Kyphosis, Epicanthus, Thick lower lip vermilion, S... ORPHA:94065
Mietens Syndrome
Avascular necrosis of the capital femoral epiphysis, Elbow ankylosis, Hip dislocation, Microcorne... ORPHA:2557
Hurler Syndrome
Camptodactyly of finger, Cardiomyopathy, Abnormality of the elbow, Spinal canal stenosis, Abnorma... ORPHA:93473
Oculogastrointestinal Neurodevelopmental Syndrome
Sacral dimple, Coloboma, Unilateral microphthalmos, Bilateral microphthalmos, Unilateral ptosis, ... OMIM:619318
Dominant Beta-Thalassemia
Abnormality of iron homeostasis, Malar prominence, Hepatosplenomegaly, Splenomegaly, High-output ... ORPHA:231226
3Mc Syndrome 3
Sacral dimple, Cleft upper lip, Blepharophimosis, Radioulnar synostosis, Ptosis, Epicanthus inver... OMIM:248340
Farber Disease
Abnormal conjunctiva morphology, Anemia, Flexion contracture, Abnormality of the knee, Abnormalit... ORPHA:333
Faciodigitogenital Syndrome, Autosomal Recessive
Dental malocclusion, Vertebral fusion, Downslanted palpebral fissures, High palate, Narrow palate... OMIM:227330
Scheie Syndrome
Wide mouth, Limitation of joint mobility, Aortic regurgitation, Everted lower lip vermilion, Corn... ORPHA:93474
Anterior beaking of lumbar vertebrae, Kyphosis, Failure to thrive, Corneal opacity, Abnormality o... ORPHA:349
Schimke Immunoosseous Dysplasia
Microdontia, Short neck, Ovoid vertebral bodies, Thrombocytopenia, Lumbar hyperlordosis, Transien... OMIM:242900
Van Maldergem Syndrome 1
Irregular dentition, Dental malocclusion, Sacral dimple, Short palpebral fissure, High palate, Ep... OMIM:601390
Lcat Deficiency
Hemolytic anemia, Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating... ORPHA:650
Tangier Disease
Cicatricial ectropion, Myocardial infarction, Decreased HDL cholesterol concentration, Ectropion,... OMIM:205400
Rothmund-Thomson Syndrome, Type 2
Premature graying of hair, Epicanthus, Delayed eruption of teeth, Micrognathia, Microdontia, Spar... OMIM:268400
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Enamel hypoplasia, Anemia, Hypopigmentation of the skin, Failure to thrive, Depigmentation/hyperp... ORPHA:79396
Linear Verrucous Nevus Syndrome
Iris coloboma, Abnormal cornea morphology, Cataract, Scoliosis, Genu recurvatum, Reduced bone min... ORPHA:2611
Microphthalmia With Brain And Digit Anomalies
High palate, Microcornea, Iris coloboma, Cataract, Microphthalmia, Chorioretinal coloboma, Sclero... ORPHA:139471
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome
Abnormal vertebral morphology, Iris coloboma, Microphthalmia, Hemivertebrae, Sclerocornea ORPHA:77298
Uveal Melanoma
Vitreous hemorrhage, Iris melanoma, Zonular cataract, Mydriasis, Ciliary body melanoma, Inferior ... ORPHA:39044
Oculodentodigital Dysplasia
Camptodactyly of finger, Non-midline cleft lip, Epicanthus, Micrognathia, Taurodontia, Median cle... ORPHA:2710
Chromosome 16Q12 Duplication Syndrome