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 eye pigmentation Kat14tm1a(KOMP)Wtsi HOM Early adult 3.02×10-06
decreased hemoglobin content Kat14tm1a(KOMP)Wtsi HOM Early adult 4.02×10-06
increased circulating creatine kinase level Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.75×10-09
abnormal pupil morphology Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.04×10-07
abnormal tooth morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 3.83×10-05
vertebral fusion Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.93×10-05
decreased mean corpuscular hemoglobin Kat14tm1a(KOMP)Wtsi HOM Early adult 6.42×10-05
decreased bone mineral content Kat14tm1a(KOMP)Wtsi HOM   Early adult 5.46×10-05
corneal opacity Kat14tm1a(KOMP)Wtsi HOM Early adult 9.35×10-07
decreased body weight Kat14tm1a(KOMP)Wtsi HOM Early adult 1.64×10-07
decreased hematocrit Kat14tm1a(KOMP)Wtsi HOM Early adult 4.37×10-05
abnormal cornea morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 4.65×10-07
abnormal cranium morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 1.89×10-06
decreased lean body mass Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.94×10-05
abnormal eye size Kat14tm1a(KOMP)Wtsi HOM Early adult 1.43×10-08
corneal vascularization Kat14tm1a(KOMP)Wtsi HOM Early adult 2.23×10-05
eyelids fail to open Kat14tm1a(KOMP)Wtsi HOM Early adult 4.77×10-09
abnormal eye morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 7.07×10-05
decreased body length Kat14tm1a(KOMP)Wtsi HOM Early adult 6.30×10-09
abnormal maxilla morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 1.47×10-05
abnormal iris morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 2.06×10-06
abnormal eyelid aperture Kat14tm1a(KOMP)Wtsi HOM Early adult 3.81×10-09

Download data as:  TSV  XLS

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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 0.68% (4 of 585)
aorta 0.17% (1 of 585)
blood vessel 0.0%
bone 0.0%
brain 0.68% (4 of 585)
brainstem 0.34% (2 of 585)
brown adipose tissue 0.0%
cartilage tissue 0.17% (1 of 585)
cerebellum 0.51% (3 of 585)
cerebral cortex 0.34% (2 of 585)
eye 0.0%
gall bladder 0.0%
heart 0.34% (2 of 585)
hippocampus 0.51% (3 of 585)
hypothalamus 0.34% (2 of 585)
kidney 3.59% (21 of 585)
large intestine 1.71% (10 of 585)
liver 0.0%
lower urinary tract 0.17% (1 of 585)
lung 0.34% (2 of 585)
lymph node 0.17% (1 of 585)
mammary gland 0.0%
oesophagus 0.0%
olfactory lobe 0.34% (2 of 585)
ovary 0.17% (1 of 585)
oviduct 0.0%
pancreas 0.85% (5 of 585)
parathyroid gland 0.18% (1 of 563)
peripheral nervous system 0.34% (2 of 585)
peyer's patch 0.57% (1 of 176)
pituitary gland 0.17% (1 of 585)
prostate gland 2.05% (12 of 585)
skeletal muscle tissue 0.0%
skin 0.17% (1 of 585)
small intestine 1.54% (9 of 585)
spinal cord 0.51% (3 of 585)
spleen 0.51% (3 of 585)
stomach 2.22% (13 of 585)
striatum 0.51% (3 of 585)
testis 1.03% (6 of 585)
thymus 0.17% (1 of 585)
thyroid gland 2.91% (17 of 585)
trachea 0.51% (3 of 585)
uterus 0.0%
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 opacity, Corneal dystrophy OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal opacity, Corneal dystrophy 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
Megalocornea OMIM:249300
Corneal Degeneration, Band-Shaped Spheroid
Corneal degeneration OMIM:217520
Corneal Dystrophy, Lisch Epithelial
Corneal dystrophy OMIM:300778
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal dystrophy OMIM:615523
Schnyder Corneal Dystrophy
Crystalline corneal dystrophy, Corneal dystrophy OMIM:121800
Central Cloudy Dystrophy Of Francois
Corneal dystrophy, Central corneal dystrophy OMIM:217600
Glaucoma 3, Primary Congenital, D
Corneal opacity, Ectopia lentis, Primary congenital glaucoma OMIM:613086
Cataract-Microcornea Syndrome
Corneal dystrophy, Microcornea, Cataract, Corneal opacity, Iris coloboma ORPHA:1377
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy, Subepithelial Mucinous
Corneal dystrophy OMIM:612867
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal opacity, Corneal dystrophy ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Punctate corneal dystrophy, Granular corneal dystrophy, Nodular corneal dystrophy, Cataract OMIM:121900
Corneal Degeneration, Ribbonlike, With Deafness
Band keratopathy, Ribbonlike corneal degeneration OMIM:121450
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Map-dot-fingerprint corneal dystrophy, Recurrent corneal erosions, Corneal dystrophy OMIM:121820
Abnormality of the vertebral column, Corneal opacity, Abnormal vertebral morphology ORPHA:351
Winchester Syndrome
Generalized osteoporosis, Kyphosis, Carpal osteolysis, Corneal opacity, Arthropathy, Osteolysis i... OMIM:277950
Morquio Syndrome C
Corneal opacity OMIM:252300
Autosomal Dominant Keratitis
Microcornea, Cataract, Coloboma, Aniridia, Abnormality of the corneal limbus, Hypoplastic iris st... ORPHA:2334
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Large for gestational age, Median cleft palate, Microcornea, Corneal opacity, Microphthalmia, Rec... ORPHA:2432
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
Thiel-Behnke Corneal Dystrophy
Subepithelial corneal opacities, Astigmatism, Central corneal dystrophy, Opacification of the cor... ORPHA:98960
Spinocerebellar Degeneration-Corneal Dystrophy Syndrome
Corneal opacity, Corneal dystrophy ORPHA:3177
Corneal Endothelial Dystrophy
Congenital corneal dystrophy, Increased corneal thickness, Opacification of the corneal stroma, A... OMIM:217700
Oculodentodigital Dysplasia, Autosomal Recessive
Long philtrum, Micrognathia, Epicanthus, Telecanthus, Narrow mouth, Microcornea, Cataract, Downsl... OMIM:257850
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Autoinflammation With Arthritis And Dyskeratosis
Punctate keratitis, Uveitis, Hypereosinophilia, Polyarticular arthritis, Autoimmune hemolytic ane... OMIM:617388
Congenital Corneal Opacities, Cornea Guttata, And Corectopia
Corneal opacity, Ectopia pupillae OMIM:608484
Gorlin Syndrome
Vertebral wedging, Cataract, Carious teeth, Scoliosis, Vertebral fusion, Mandibular prognathia, E... ORPHA:377
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Subepithelial corneal opacities, Astigmatism, Corne... ORPHA:98964
Keratoconus Posticus Circumscriptus
Cleft upper lip, Short neck, Central posterior corneal opacity, Limited elbow extension and supin... OMIM:244600
Short neck, Kyphosis, Open bite, Craniofacial hyperostosis, Cataract, Corneal opacity, Widely spa... ORPHA:61
Pupillary Membrane, Persistence Of
Developmental cataract, Megalocornea, Persistent pupillary membrane OMIM:178900
Short Syndrome
Abnormal anterior chamber morphology, Hypoplasia of the iris, Posterior embryotoxon, Abnormality ... ORPHA:3163
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Aarskog-Scott Syndrome
Short neck, Delayed eruption of teeth, Abnormality of the cervical spine, Long philtrum, Cleft up... ORPHA:915
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Hypopigmentation of hair, Persistent pupillary membrane, Cataract, Corneal opacity, Ptosis, Aplas... ORPHA:1067
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal conjunctiva morphology, Conjunctival dermolipoma, Abnormalit... OMIM:180550
2Q24 Microdeletion Syndrome
Short philtrum, Short neck, Camptodactyly of finger, Small for gestational age, Cataract, Downsla... ORPHA:1617
Limbal Stem Cell Deficiency
Corneal perforation, Corneal scarring, Opacification of the corneal epithelium, Blepharospasm, Co... ORPHA:171673
Dextrocardia With Unusual Facies And Microphthalmia
Micrognathia, Microphthalmia, Vertebral fusion, Vertebral segmentation defect, Cleft palate OMIM:221950
Corneal Dystrophy, Fuchs Endothelial, 1
Descemet Membrane Folds, Corneal dystrophy, Corneal guttata, Corneal stromal edema, Corneal degen... OMIM:136800
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Chorioretinal coloboma, Optic atrophy, Posterior embryotoxon, Cataract, Corneal opacity, Retinal ... ORPHA:1473
Vernal Keratoconjunctivitis
Punctate keratitis, Corneal neovascularization, Abnormal cornea morphology, Abnormal conjunctiva ... ORPHA:70476
Mucolipidosis Type Iii
Joint stiffness, Abnormal form of the vertebral bodies, Craniofacial hyperostosis, Corneal opacit... ORPHA:577
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal opacity, Corneal erosion, Corneal dystrophy OMIM:608470
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Short neck, Back pain, Recurrent respiratory infections, Vertebral fusion, Abnor... OMIM:277300
Microphthalmia, Isolated, With Coloboma 4
Microphthalmia, Microcornea, Orbital cyst, Coloboma OMIM:251505
Microphthalmia, Syndromic 13
Microcornea, Ptosis, Microphthalmia, Coloboma, Kyphoscoliosis, Diastema OMIM:300915
Anterior Segment Dysgenesis 6
Developmental glaucoma, Abnormal Descemet membrane morphology, Corneal opacity, Posterior synechi... OMIM:617315
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Thoracic scoliosis, Cervical C5/C6 vertebrae fusion, Cervical C3/C4 verte... OMIM:613702
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Narrow mouth, Abnormal form of the vertebral bodies, Corneal opacity, Scoliosis, Reduced bone min... ORPHA:2370
X-Linked Endothelial Corneal Dystrophy
Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity, Nuclear cataract ORPHA:293621
Spinocerebellar Degeneration And Corneal Dystrophy
Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Kid Syndrome
Knee pain, Aplastic/hypoplastic lacrimal glands, Keratitis, Conjunctivitis, Punctate keratitis, P... ORPHA:477
Kbg Syndrome
Thoracic kyphosis, Short neck, Long philtrum, Macrodontia, Oligodontia, Thick eyebrow, Telecanthu... ORPHA:2332
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Craniosynostosis, Short neck, Elbow flexion contracture, Ptosis, Knee flexion ... OMIM:178110
Sclerocornea, Autosomal Dominant
Sclerocornea OMIM:181700
Granular Corneal Dystrophy Type Ii
Subepithelial corneal opacities, Granular corneal dystrophy, Corneal crystals, Central opacificat... ORPHA:98963
Congenital Amegakaryocytic Thrombocytopenia
Short neck, Abnormal form of the vertebral bodies, Decreased skull ossification, Anemia, Scoliosi... ORPHA:3319
Sjogren-Larsson Syndrome
Retinal pigment epithelial atrophy, Thoracic kyphosis, Enamel hypoplasia, Opacification of the co... OMIM:270200
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Decreased mean corpuscular hemoglobin concentration, Sickled ... ORPHA:90039
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Ophthalmomandibulomelic Dysplasia
Synostosis of carpal bones, Temporomandibular joint ankylosis, Radioulnar dislocation, Corneal op... ORPHA:2741
Developmental And Speech Delay Due To Sox5 Deficiency
Exaggerated median tongue furrow, Thoracic kyphoscoliosis, Lumbar hyperlordosis, Scoliosis, Denta... ORPHA:313892
Atopic Keratoconjunctivitis
Blepharitis, Corneal opacity, Loss of eyelashes, Keratoconjunctivitis sicca, Chemosis, Keratitis,... ORPHA:163934
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Kyphosis, Abnormal form of the vertebral bodies, Hypoplastic vertebral bodies, Hypodontia, Elbow ... ORPHA:2916
Charcot-Marie-Tooth Disease Type 1B
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Scoliosis ORPHA:101082
Palmoplantar Carcinoma, Multiple Self-Healing
Finger joint hypermobility, Short neck, Long philtrum, Limbal stem cell deficiency, Corneal neova... OMIM:615225
Xeroderma Pigmentosum, Complementation Group D
Cataract, Telangiectasia, Microphthalmia, Keratoconjunctivitis sicca, Ectropion, Keratitis, Corne... OMIM:278730
Scheie Syndrome
Retinal degeneration, Short neck, Aortic regurgitation, Corneal opacity, Spondylolisthesis, Mandi... OMIM:607016
Multicentric Carpotarsal Osteolysis Syndrome
Wrist pain, Osteopenia, Metatarsal osteolysis, Carpal osteolysis, Corneal opacity, Metacarpal ost... OMIM:166300
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Short neck, Flexion contracture, Antecubital pterygium, Fused thoracic vertebrae, Scoliosis, Fuse... OMIM:618469
Trisomy 9P
Impacted tooth, Short neck, Kyphosis, Sacral dimple, Non-midline cleft lip, Downslanted palpebral... ORPHA:236
Myopathy, Tubular Aggregate, 1
Elevated circulating creatine kinase concentration, Abnormal pupil morphology, Flexion contracture OMIM:160565
Aniridia 1
Anterior subcapsular cataract, Hypoplasia of the iris, Cataract, Ptosis, Bilateral ptosis, Chorio... OMIM:106210
Chromosome 8Q21.11 Deletion Syndrome
Short philtrum, Short palpebral fissure, Short neck, Epicanthus, Micrognathia, Ptosis, Downslante... OMIM:614230
Proteus-Like Syndrome
Heterochromia iridis, Open bite, Cataract, Splenomegaly, Downslanted palpebral fissures, Abnormal... ORPHA:2969
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Mental Retardation
Upslanted palpebral fissure, Long philtrum, Microcornea, Astigmatism, Corneal opacity, Cataract, ... OMIM:152950
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Congenital Hereditary Endothelial Dystrophy Type Ii
Irregular astigmatism, Increased corneal thickness, Abnormal Descemet membrane morphology, Cornea... ORPHA:293603
Peters Anomaly
Subcapsular cataract, Anterior synechiae of the anterior chamber, Developmental glaucoma, Peters ... ORPHA:708
Bilateral Striopallidodentate Calcinosis
Corneal opacity, Thrombocytopenia ORPHA:1980
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Polymorphous posterior corneal dystrophy, Anterior synechiae of the anterior ch... OMIM:122000
Lacrimoauriculodentodigital Syndrome
Corneal ulceration, Hypoplasia of the lacrimal punctum, Bifid uvula, Microdontia, Micrognathia, P... ORPHA:2363
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Recurrent otitis media, Long philtrum, Oligodontia, Thick eyebrow, Corneal opacity, Micrognathia,... OMIM:602562
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Sacral dimple, Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Tarsal synostosis,... ORPHA:2064
Microphthalmia, Isolated, With Coloboma 10
Microphthalmia, Chorioretinal coloboma, Microcoria, Iris coloboma OMIM:616428
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Amelogenesis imperfecta, Coronal cleft vertebrae, Micrognathia, Scoliosis, Genu valgum, Cleft pal... OMIM:618363
Multiple Pterygium Syndrome, X-Linked
Cleft upper lip, Flexion contracture, Joint dislocation, Increased susceptibility to fractures, M... OMIM:312150
Corneal arcus, Iridodonesis, Cataract, Astigmatism, Lens subluxation, Mosaic corneal dystrophy, D... OMIM:309300
Nasopalpebral Lipoma-Coloboma Syndrome
Recurrent upper respiratory tract infections, Cataract, Corneal opacity, Telecanthus, Abnormal ey... ORPHA:2399
Kniest Dysplasia
Coronal cleft vertebrae, Retinal detachment, Abnormal joint morphology, Delayed patellar ossifica... ORPHA:485
Cornea Plana 2, Autosomal Recessive
Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Otodental Syndrome
Abnormality of the maxilla, Delayed eruption of teeth, Long philtrum, Pulp calcification, Gingiva... ORPHA:2791
Verheij Syndrome
Short neck, Long philtrum, Coloboma, Scoliosis, Vertebral fusion, Thin upper lip vermilion, Hemiv... OMIM:615583
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Abnormal palate morphology, Heterochromia iridis, Abnormality of retinal pigmentation, Carious te... ORPHA:1390
Stickler Syndrome Type 1
Long philtrum, Cataract, Retinal detachment, Osteoarthritis, Platyspondyly, Hypoplasia of the max... ORPHA:90653
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Kyphosis, Joint hyperflexibility, Blepharophimosis, Cataract, Everte... ORPHA:96169
Distal Monosomy 6P
Short philtrum, Anterior synechiae of the anterior chamber, Abnormal anterior chamber morphology,... ORPHA:96125
Alagille Syndrome
Short philtrum, Corneal dystrophy, Abnormal form of the vertebral bodies, Micrognathia, Downslant... ORPHA:52
Bartsocas-Papas Syndrome 2
Accessory oral frenulum, Popliteal pterygium, Corneal opacity, Micrognathia, Antecubital pterygiu... OMIM:619339
Brachydactyly, Type B1
Hypoplastic sacrum, Thoracolumbar scoliosis, Delayed eruption of permanent teeth, Vertebral fusio... OMIM:113000
Anterior Segment Dysgenesis 1
Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacification of the corneal str... OMIM:107250
Brachyolmia Type 1, Toledo Type
Precocious costochondral ossification, Short neck, Intervertebral space narrowing, Back pain, Irr... OMIM:271630
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cervical C2/C3 vertebral fusion, High palate, Short neck, Long philtrum, Flexion contracture, Eve... OMIM:616549
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Unilateral narrow palpebral fissure, Enamel hypoplasia, Conical tooth, Oligodontia, Cataract, Ast... OMIM:618727
Oculomaxillofacial Dysostosis
Upslanted palpebral fissure, Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Corneal ... ORPHA:1794
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hyperopic astigmatism, Blepharophimosis, Obesity, Ptosis, Hypoplasia of the maxilla, Crowded maxi... ORPHA:397973
Mucopolysaccharidosis Type 4
Short neck, Kyphosis, Carious teeth, Corneal opacity, Hyperlordosis, Platyspondyly, Joint disloca... ORPHA:582
Anterior Segment Dysgenesis 7
Sclerocornea, Microcornea, Cataract, Ocular anterior segment dysgenesis, Buphthalmos OMIM:269400
Macular Corneal Dystrophy
Punctate opacification of the cornea, Hyperopic astigmatism, Decreased corneal thickness, Corneal... ORPHA:98969
Frontonasal Dysplasia 1
Hypoplastic frontal sinuses, Median cleft palate, Cataract, Ptosis, Microphthalmia, Hypoplasia of... OMIM:136760
Granular Corneal Dystrophy Type I
Subepithelial corneal opacities, Central corneal dystrophy, Corneal crystals, Central opacificati... ORPHA:98962
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Multiple Pterygium Syndrome, Lethal Type
Flexion contracture, Joint dislocation, Increased susceptibility to fractures, Micrognathia, Abno... OMIM:253290
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Shoulder dislocation, Pigmentary retinopathy, Scoliosis, Sclerosis of finger phalanx, Decreased L... ORPHA:404454
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Bifid uvula, Hypoplastic vertebral bodies, Enamel hypoplasia, Macrodontia, Hypodontia, Epicanthus... OMIM:263540
Gómez-López-Hernández Syndrome
Telecanthus, Corneal opacity, Thin vermilion border ORPHA:1532
Woolly Hair
Hypopigmentation of hair, Abnormal pupil morphology, Cataract, Sparse lateral eyebrow ORPHA:170
Duane Retraction Syndrome
Central heterochromia, Everted lower lip vermilion, Ptosis, Micrognathia, Hypoplastic iris stroma... ORPHA:233
Dental Anomalies And Short Stature
Herniation of intervertebral nuclei, Amelogenesis imperfecta, Intervertebral space narrowing, Oli... OMIM:601216
Anterior Segment Dysgenesis 8
Uveal ectropion, Iridodonesis, Persistent pupillary membrane, Hypoplasia of the iris, Cataract, I... OMIM:617319
22Q11.2 Deletion Syndrome
Upslanted palpebral fissure, Long philtrum, Gastrointestinal hemorrhage, Ptosis, Micrognathia, Sc... ORPHA:567
Kbg Syndrome
Thoracic kyphosis, Long philtrum, Oligodontia, Thick eyebrow, Telecanthus, Widely-spaced maxillar... OMIM:148050
Narrow palate, Wormian bones, Increased bone mineral density, Spondylolysis, Hypodontia, Carious ... OMIM:265800
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Upslanted palpebral fissure, Hypokalemia, Long philtrum, Open bite, Everted lower li... ORPHA:534
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal dystrophy, Corneal degeneration OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal dystrophy, Abnormal Descemet membrane morphology, Corneal guttata, Corneal stromal edema,... OMIM:613270
8Q21.11 Microdeletion Syndrome
Narrow mouth, High palate, Short philtrum, Short neck, Camptodactyly of finger, Abnormality of th... ORPHA:284160
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Otopalatodigital Syndrome Type 1
Synostosis of carpal bones, Hypoplastic frontal sinuses, Increased bone mineral density, Limitati... ORPHA:90650
Warburg-Cinotti Syndrome
High palate, Symblepharon, Elbow flexion contracture, Blepharophimosis, Ankle flexion contracture... OMIM:618175
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Upslanted palpebral fissure, Cataract, Corneal opacity, Optic nerve hypoplasia, Hypertrophic card... ORPHA:496790
Corneal Dystrophy, Meesmann, 1
Corneal dystrophy, Punctate opacification of the cornea OMIM:122100
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hemoglobin E-Beta-Thalassemia Syndrome
Abnormal hemoglobin, Increased circulating ferritin concentration, Anemia ORPHA:231249
Asymmetric Short Stature Syndrome
Dental crowding, Fused cervical vertebrae, Micrognathia, Lumbar scoliosis OMIM:108450
Isolated Ectopia Lentis
Joint stiffness, Cataract, Malar flattening, Ectopia pupillae, Hypertension, Mandibular prognathi... ORPHA:1885
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Long eyelashes, Sclerocornea, Microcornea, Cataract, Microphthalmia, Ectopia pupillae, Epicanthus OMIM:615877
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Short philtrum, Platyspondyly, Hypoplasia of the maxilla, Osteoporosis of vertebrae, Premature lo... OMIM:156510
Regional Odontodysplasia
Dental enamel pits, Pulp calcification, Abnormal dentin morphology, Multiple unerupted teeth, Ena... ORPHA:83450
Pyle Disease
Absent paranasal sinuses, Hypoplastic frontal sinuses, Delayed eruption of teeth, Carious teeth, ... OMIM:265900
Anterior Segment Dysgenesis 3
Posterior embryotoxon, Peters anomaly, Abnormal iris vasculature, Ectopia pupillae, Rieger anomal... OMIM:601631
Mucoepithelial Dysplasia, Hereditary
Eosinophilia, Cataract, Melena, Keratoconjunctivitis, Opacification of the corneal stroma, Cornea... OMIM:158310
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Achilles tendon contracture, Kyphosis, Hyperlordosis, Macroglossia, Scoliosis, Vertebral fusion OMIM:606612
Congenital Rubella Syndrome
Abnormality of retinal pigmentation, Cataract, Corneal opacity, Splenomegaly, Microphthalmia, Ane... ORPHA:290
Bartsocas-Papas Syndrome
Narrow mouth, Popliteal pterygium, Aplasia/Hypoplasia of the eyebrow, Corneal opacity, Micrognath... ORPHA:1234
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Corneal opacity, Reduced number of corneal endothelial c... ORPHA:98974
Maxillonasal Dysplasia
Vertebral clefting, Open bite, Microdontia, Hypoplasia of the maxilla, Scoliosis, Patchy distorti... ORPHA:1248
Hurler-Scheie Syndrome
Kyphosis, Aortic regurgitation, Joint stiffness, Contracture of the distal interphalangeal joint ... OMIM:607015
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Thin eyebrow, Agenesis of central incisor, Everted lower lip vermilion, Tented up... ORPHA:364577
Frontometaphyseal Dysplasia 1
High palate, Increased density of long bone diaphyses, Partial fusion of tarsals, Delayed eruptio... OMIM:305620
Oculofaciocardiodental Syndrome
Long philtrum, Retinal detachment, Ptosis, Highly arched eyebrow, Flexion contracture of the 2nd ... ORPHA:2712
Keratoendotheliitis Fugax Hereditaria
Opacification of the corneal stroma, Conjunctival hyperemia, Keratitis OMIM:148200
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Polycoria, Developmental cataract, Hypoplasia of the iris, Microcornea, Astigmatism, Corneal opac... OMIM:175780
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Failure to thrive in infancy, Thick eyebrow, Micrognathia, High... ORPHA:193
Malan Syndrome
Narrow mouth, Accelerated skeletal maturation, Astigmatism, Everted lower lip vermilion, Hyperpla... OMIM:614753
Microcornea, Abnormal pupil morphology, Cleft palate, Blepharophimosis, Abnormal eyebrow morpholo... ORPHA:3374
Gm1-Gangliosidosis, Type Iii
Kyphosis, Anterior beaking of lumbar vertebrae, Hypoplastic acetabulae, Platyspondyly, Scoliosis,... OMIM:230650
Temtamy Preaxial Brachydactyly Syndrome
Narrow mouth, Abnormal spaced incisors, Abnormality of the lens, Oligodontia, Abnormally large gl... ORPHA:363417
Cohen Syndrome
Short philtrum, Thoracic scoliosis, Leukopenia, Small for gestational age, Chorioretinal dystroph... OMIM:216550
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Mental Retardation
Cleft upper lip, Cataract, Ptosis, Microphthalmia, Coloboma, Cleft palate OMIM:120433
Mucopolysaccharidosis, Type Iva
Recurrent upper respiratory tract infections, Ovoid vertebral bodies, Kyphosis, Cervical subluxat... OMIM:253000
Lateral Meningocele Syndrome
High palate, Wormian bones, Short neck, Kyphosis, Long philtrum, Sclerosis of skull base, Microgn... OMIM:130720
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Kyphosis, Short neck, Hyperlordosis, Micrognathia, Ptosis, Abnormality of dental morphology, Fuse... ORPHA:2522
Flynn-Aird Syndrome
Joint stiffness, Increased bone mineral density, Cataract, Carious teeth, Osteoporosis, Increased... OMIM:136300
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Vertebral fusion, Abnormality of the odontoid process, Spina bifida occulta, Ver... OMIM:613686
Multiple Synostoses Syndrome 2
Carpal synostosis, Finger symphalangism, Proximal symphalangism, Vertebral fusion, Humeroradial s... OMIM:610017
Mucopolysaccharidosis, Type Ivb
Recurrent upper respiratory tract infections, Ovoid vertebral bodies, Kyphosis, Cervical subluxat... OMIM:253010
Spondylocarpotarsal Synostosis Syndrome
Carpal synostosis, Block vertebrae, Short neck, Enamel hypoplasia, Failure of eruption of permane... OMIM:272460
Anterior Segment Dysgenesis 5
Anterior synechiae of the anterior chamber, Developmental cataract, Hypoplasia of the iris, Poste... OMIM:604229
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Abnormal sacrum morphology, Cervical C2/C3 vertebral fusion,... ORPHA:2345
Koolen-De Vries Syndrome
Upslanted palpebral fissure, Everted lower lip vermilion, Widely spaced teeth, Ptosis, Scoliosis,... OMIM:610443
Lamb-Shaffer Syndrome
Thoracic kyphosis, Micrognathia, Scoliosis, Fused cervical vertebrae, Epicanthus, Optic atrophy, ... ORPHA:530983
Brittle Cornea Syndrome 1
Abnormal cornea morphology, Keratoglobus, Joint laxity, Congenital hip dislocation, Decreased cor... OMIM:229200
Cataract 1, Multiple Types
Developmental cataract, Microcornea, Pulverulent cataract, Nuclear cataract, Posterior subcapsula... OMIM:116200
Mental Retardation, Buenos Aires Type
Fair hair, High palate, Long eyelashes, Carious teeth, Blue irides, Ptosis, Curly eyelashes, Down... OMIM:249630
Multicentric Osteolysis, Nodulosis, And Arthropathy
Metatarsal osteolysis, Carpal osteolysis, Metacarpal osteolysis, Osteoporosis, Micrognathia, Prot... OMIM:259600
Otopalatodigital Syndrome Type 2
Carpal synostosis, Micrognathia, Scoliosis, Cleft palate, Narrow mouth, Pierre-Robin sequence, Sy... ORPHA:90652
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Microcornea, Cataract, Aniridia OMIM:106230
Basal Cell Nevus Syndrome
Orbital cyst, Odontogenic keratocysts of the jaw, Irregular ossification of hand bones, Cleft upp... OMIM:109400
X-Linked Recessive Ocular Albinism
Astigmatism, Abnormal pupil morphology, Giant melanosomes in melanocytes, Ocular albinism, Freckl... ORPHA:54
Epithelial Recurrent Erosion Dystrophy
Irregular astigmatism, Subepithelial corneal opacities, Corneal dystrophy, Corneal scarring, Kera... ORPHA:293381
Cardiospondylocarpofacial Syndrome
Upslanted palpebral fissure, Recurrent otitis media, Carpal synostosis, Long philtrum, Joint laxi... OMIM:157800
Chromosome 8Q22.1 Duplication Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Upslanted palpebral fissure, Joint stif... OMIM:151200
Wildervanck Syndrome
Pseudopapilledema, Short neck, Lens subluxation, Fused cervical vertebrae ORPHA:3456
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Abnormally prominent line of Schwalbe, Abnormality of the vertebral column, Hypoplasia of the max... OMIM:109120
Hurler-Scheie Syndrome
Corneal opacity, Abnormal vertebral morphology, Spinal canal stenosis, Cardiomyopathy, Limitation... ORPHA:93476
Exfoliation Syndrome
Pseudoexfoliation, Abnormality of the lens, Cataract, Phakodonesis, Lens subluxation, Iris hypope... OMIM:177650
Hypoplastic frontal sinuses, Cataract, Ptosis, Microphthalmia, Hypoplasia of the maxilla, Scolios... ORPHA:391474
Martsolf Syndrome 1
High palate, Short philtrum, Developmental cataract, Cardiac arrest, Tracheomalacia, Congestive h... OMIM:212720
Mucopolysaccharidosis, Type Vii
Recurrent otitis media, Anterior beaking of lumbar vertebrae, Thick eyebrow, Widely spaced teeth,... OMIM:253220
Isolated Optic Nerve Hypoplasia/Aplasia
Chorioretinal coloboma, Corneal opacity, Optic nerve hypoplasia, Aplasia/Hypoplasia of the iris, ... ORPHA:137902
Congenital Primary Aphakia
Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segment of the eye, Sclerocornea ORPHA:83461
Ichthyosis, X-Linked
Opacification of the corneal stroma OMIM:308100
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Persistence of hemoglobin F, Anemia, Splenomegaly, Abnormal bone structure ORPHA:46532
Klippel-Feil Syndrome 2, Autosomal Recessive
Cervical C2/C3 vertebral fusion, Cleft upper lip, Short neck, Scoliosis, Fused cervical vertebrae... OMIM:214300
Lowry-Maclean Syndrome
Craniosynostosis, Osteopenia, Developmental glaucoma, Widely patent coronal suture, Corneal opaci... ORPHA:2409
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Achilles tendon contracture, Dilated cardiomyopathy, Kyphosis, Abnormal left ventricular function... OMIM:607155
Baraitser-Winter Syndrome 2
Short neck, Long philtrum, Telecanthus, Ptosis, Highly arched eyebrow, Microphthalmia, Coloboma, ... OMIM:614583
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Schimke Immuno-Osseous Dysplasia
Microdontia, Anemia, Hypertension, Lymphopenia, Thrombocytopenia, Hyperlipidemia, Short neck, Sma... ORPHA:1830
Familial Dysautonomia
Orthostatic hypotension, Heterochromia iridis, Hyponatremia, Recurrent fractures, Corneal opacity... ORPHA:1764
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Corneal opacity, Retinal detachment, Microphthalmia, Coloboma OMIM:613153
Microphthalmia, Isolated, With Coloboma 9
Long philtrum, Sclerocornea, Microcornea, Retinal detachment, Ocular anterior segment dysgenesis,... OMIM:615145
Metaphyseal Chondrodysplasia, Spahr Type
Genu varum, Carious teeth, Hyperlordosis, Scoliosis, Reduced bone mineral density, Abnormality of... ORPHA:2501
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Shallow anterior chamber, Uveitis, Phthisis bulbi, Persistent pupillary membrane, Microcornea, Ca... OMIM:221900
Posterior Polymorphous Corneal Dystrophy
Anterior synechiae of the anterior chamber, Increased corneal curvature, Uveal ectropion, Abnorma... ORPHA:98973
3Q29 Microduplication Syndrome
High palate, Craniosynostosis, Short neck, Sclerocornea, Cataract, Deep philtrum, Obesity, Downsl... ORPHA:251038
Oculoauricular Syndrome
Chorioretinal coloboma, Developmental cataract, Phthisis bulbi, Retinal coloboma, Sclerocornea, M... OMIM:612109
Trisomy 4P
Abnormal palate morphology, Short neck, Camptodactyly of finger, Thick eyebrow, Blepharophimosis,... ORPHA:1738
Spondylocostal Dysostosis 5
Short neck, Scoliosis, Low back pain, Vertebral fusion, Butterfly vertebrae, Hemivertebrae OMIM:122600
Abruzzo-Erickson Syndrome
Chorioretinal coloboma, Abnormal palate morphology, Microcornea, Radioulnar synostosis, Coloboma,... ORPHA:921
Axenfeld-Rieger Syndrome, Type 3
Hypoplasia of the iris, Posterior embryotoxon, Hypodontia, Microdontia, Ectopia pupillae, Malar f... OMIM:602482
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Microcytic anemia, High palate, Short neck, Flexion contracture, Aplasia/Hypoplasia of the eyebro... ORPHA:98791
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Lumbar platyspondyly, Thoracic platyspondyly, Beaking of vertebral bodies, Corneal opacity, Incre... OMIM:618961
Nasopalpebral Lipoma-Coloboma Syndrome
Ectopic lacrimal punctum, Absent lacrimal punctum, Lower eyelid coloboma, Microphthalmia, Hypopla... OMIM:167730
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Craniosynostosis, Developmental glaucoma, Corneal opacity, Micrognathia, Aniridia, Telecanthus, D... ORPHA:1064
Osteoporosis-Pseudoglioma Syndrome
Wormian bones, Osteopenia, Joint laxity, Corneal opacity, Retinal detachment, Osteoporosis, Incre... ORPHA:2788
Acro-Renal-Ocular Syndrome
Short palpebral fissure, Chorioretinal coloboma, Microcornea, Cataract, Ptosis, Microphthalmia, O... ORPHA:959
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Developmental cataract, Flexion contracture, Corneal opacity, Hypertrophi... OMIM:618815
Carpenter Syndrome 1
Genu varum, Micrognathia, Scoliosis, Lateral displacement of patellae, Epicanthus, Opacification ... OMIM:201000
Multiple Pterygium Syndrome, Escobar Variant
Long philtrum, Micrognathia, Ptosis, Scoliosis, Dysplastic patella, Camptodactyly of toe, Arthrog... OMIM:265000
Pelvis-Shoulder Dysplasia
Hypoplastic acetabulae, Congenital hip dislocation, Back pain, Microphthalmia, Lumbar hyperlordos... OMIM:169550
Andersen Cardiodysrhythmic Periodic Paralysis
Prominent frontal sinuses, Micrognathia, Bidirectional ventricular ectopy, Scoliosis, Thin upper ... OMIM:170390
Atelosteogenesis, Type Iii
Cervical kyphosis, Short neck, Elbow dislocation, Micrognathia, Horizontal sacrum, Hypoplasia of ... OMIM:108721
Anterior Segment Dysgenesis 2
Sclerocornea, Microcornea, Cataract, Congenital aphakia, Peters anomaly, Anterior segment of eye ... OMIM:610256
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Persistent pupillary membrane OMIM:225200
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Vertebral segmentation defect, Sacral dimple OMIM:618845
Erythrokeratodermia Variabilis
Cataract, Corneal opacity, Hypermelanotic macule, Irregular hyperpigmentation, Weight loss ORPHA:317
Proboscis Lateralis
Long philtrum, Optic nerve hypoplasia, Ptosis, Nasolacrimal duct obstruction, Abnormality of the ... ORPHA:141099
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Fusion of midcervical facet joints, Cervical vertebral bodies with decreased anteroposterior diam... OMIM:606842
Ramon Syndrome
Abnormal anterior chamber morphology, Delayed eruption of teeth, Abnormality of retinal pigmentat... ORPHA:3019
Sialidosis Type 2
Flexion contracture, Corneal opacity, Kyphosis, Osteoporosis ORPHA:87876
Megalocornea-Intellectual Disability Syndrome
High palate, Short philtrum, Abnormal anterior chamber morphology, Genu varum, Osteopenia, Iridod... ORPHA:2479
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Camptodactyly of finger, Lacrimal duct atresia, Hypoplasia of the maxilla, Downslan... ORPHA:1529
Zellweger Syndrome
Upslanted palpebral fissure, High palate, Posterior embryotoxon, Epiphyseal stippling, Cataract, ... ORPHA:912
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Butterfly vertebrae, Craniosynostosis, Leukopenia, Small for gestational age, Abnormal left ventr... OMIM:301056
Abnormal vertebral segmentation and fusion, Absent or minimally ossified vertebral bodies, Short ... ORPHA:66637
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Crouzon Syndrome
Abnormal sacrum morphology, Optic atrophy, Multiple suture craniosynostosis, Conjunctivitis, Ptos... ORPHA:207
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Recurrent fractures, Corneal opacity, Hypophosphatemic rickets, Coloboma, Abnormality... OMIM:163200
Robinow Syndrome, Autosomal Recessive 1
Long philtrum, Micrognathia, Macroglossia, Scoliosis, Right ventricular outlet tract obstruction,... OMIM:268310
Lecithin:Cholesterol Acyltransferase Deficiency
Hemolytic anemia, Hypertriglyceridemia, Opacification of the corneal stroma, Normochromic anemia,... OMIM:245900
Mucolipidosis Iii Gamma
Kyphosis, Short neck, Aortic regurgitation, Joint stiffness, Hyperlordosis, Scoliosis, Opacificat... OMIM:252605
Myhre Syndrome
Thick eyebrow, Vertebral fusion, Hypertension, Mandibular prognathia, Narrow palpebral fissure, T... OMIM:139210
Amoebic Keratitis
Corneal ulceration, Abnormal anterior chamber morphology, Abnormal cornea morphology, Corneal per... ORPHA:67043
Dentinogenesis Imperfecta
Hyperextensibility at elbow, Finger joint hypermobility, Knee joint hypermobility, Abnormal denta... ORPHA:49042
Iridocorneal Endothelial Syndrome
Polycoria, Central heterochromia, Anterior synechiae of the anterior chamber, Heterochromia iridi... ORPHA:64734
Al-Gazali Syndrome
Recurrent pneumonia, Osteopenia, Recurrent fractures, Sclerocornea, Corneal opacity, Micrognathia... OMIM:609465
Florid Cemento-Osseous Dysplasia
Abnormality of the maxilla, Abnormal trabecular bone morphology, Abnormality of primary teeth, Ab... ORPHA:83451
Craniolenticulosutural Dysplasia
High palate, Delayed eruption of teeth, Long philtrum, Carious teeth, Microdontia, Decreased skul... ORPHA:50814
Osteolysis Syndrome, Recessive
Osteolytic defects of the middle phalanges of the hand, Osteolytic defects of the distal phalange... OMIM:259610
Mucolipidosis Iv
Opacification of the corneal stroma, Corneal opacity, Retinal degeneration, Optic atrophy OMIM:252650
Amelogenesis Imperfecta
Multiple unerupted teeth, Enamel hypomineralization, Enamel hypoplasia, Widely spaced teeth, Yell... ORPHA:88661
Microspherophakia And/Or Megalocornea, With Ectopia Lentis And With Or Without Secondary Glaucoma
High palate, Iridodonesis, Deep anterior chamber, Microspherophakia, Megalocornea, Ectopia lentis OMIM:251750
Intellectual Developmental Disorder, Autosomal Recessive 68
Small for gestational age, Broad eyebrow, Hypoplasia of the maxilla, Synophrys, Narrow palpebral ... OMIM:618302
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Developmental cataract, Retinal dysplasia, Ocular anterior segment dysgenesis, Microphthalmia, Co... ORPHA:324416
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Upslanted palpebral fissure, Thick eyebrow, Hypoplasia of the maxilla, Sm... OMIM:618737
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae, Fused cervical vertebrae ORPHA:1436
Oculocerebral Hypopigmentation Syndrome, Cross Type
Narrow mouth, Hypopigmentation of hair, Abnormal palate morphology, Cataract, Corneal opacity, Mi... ORPHA:2719
Brachytelephalangic Chondrodysplasia Punctata
Abnormality of the vertebral column, Cervical kyphosis, Coronal cleft vertebrae, Vertebral hypopl... ORPHA:79345
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Short neck, Kyphosis, Abnormal B cell morphology, Pulmonic stenosis, Cleft lip, Scoliosis, Ectopi... OMIM:618223
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Peroxisome Biogenesis Disorder 2A (Zellweger)
Upslanted palpebral fissure, Cataract, Epicanthus, Palpebral edema, Micrognathia, Hypoplasia of t... OMIM:214110
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Multiple pterygia, Micrognathia, Arthrogryposis multiplex congenita OMIM:601809
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Long philtrum, Thin eyebrow, Everted lower lip ... OMIM:608670
Congenital Disorder Of Glycosylation, Type Ii
Coloboma, Cataract OMIM:607906
Brittle Cornea Syndrome 2
Keratoglobus, Sclerocornea, Decreased corneal thickness, Flat cornea, Keratoconus, Megalocornea OMIM:614170
Aicardi Syndrome
Recurrent pneumonia, Block vertebrae, Cleft upper lip, Sparse lateral eyebrow, Optic atrophy, Cat... OMIM:304050
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Kyphosis, Slender build, Hypoplasia of the maxilla, Scoliosis, Mandibular prognathia OMIM:300676
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cleft upper lip, Persistent pupillary membrane, Cataract, Peters anomaly, Macroglossia, Elevated ... OMIM:613150
X-Linked Intellectual Disability, Sutherland-Haan Type
Upslanted palpebral fissure, Decreased body weight, Small for gestational age, Hypoplasia of the ... ORPHA:93950
Axenfeld-Rieger Syndrome
Abnormal anterior chamber morphology, Posterior embryotoxon, Hypodontia, Everted lower lip vermil... ORPHA:782
Coffin-Lowry Syndrome
Everted lower lip vermilion, Widely spaced teeth, Scoliosis, Epicanthus, High palate, Craniofacia... ORPHA:192
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Genu varum, Vertebral hypoplasia, Abnormal bone ossification, Scoliosis, Vertebral fusion, Limb p... ORPHA:93315
Sanjad-Sakati Syndrome
Long philtrum, Astigmatism, Corneal opacity, Patchy osteosclerosis, Micrognathia, Recurrent respi... ORPHA:2323
Microphthalmia, Syndromic 3
Vertebral hypoplasia, Sclerocornea, Cataract, Optic nerve hypoplasia, Microphthalmia, Coloboma, V... OMIM:206900
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Abnormal sacrum morphology, Abnormal palate morphology, Abnormal form of the vertebral bodies, Pt... ORPHA:93262
Micrognathia, Scoliosis, High palate, Increased bone mineral density, Enamel hypoplasia, Spondylo... ORPHA:763
Acrodysostosis 1 With Or Without Hormone Resistance
Neonatal epiphyseal stippling, Accelerated skeletal maturation, Delayed eruption of teeth, Small ... OMIM:101800
Goldberg-Shprintzen Syndrome
Corneal ulceration, Short philtrum, Short neck, Thick eyebrow, Everted lower lip vermilion, Ptosi... OMIM:609460
Otodental Dysplasia
Tooth ankylosis, Delayed eruption of teeth, Long philtrum, Enamel hypoplasia, Pulp calcification,... OMIM:166750
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Shallow anterior chamber, Developmental cataract, Phth... ORPHA:91495
Hurler Syndrome
Recurrent otitis media, Short neck, Kyphosis, Retinal degeneration, Mitral regurgitation, Aortic ... OMIM:607014
Mosaic Trisomy 20
Upslanted palpebral fissure, Craniofacial asymmetry, Kyphosis, Micrognathia, Cleft lip, Scoliosis... ORPHA:1724
Alopecia-Contractures-Dwarfism Mental Retardation Syndrome
Thoracic kyphoscoliosis, Flexion contracture, Carious teeth, Generalized hypoplasia of dental ena... OMIM:203550
Phacoanaphylactic Uveitis
Corneal keratic precipitates, Hyphema, Abnormal corneal endothelium morphology, Posterior uveitis... ORPHA:209959
Stickler Syndrome
Long philtrum, Open bite, Slender build, Astigmatism, Retinal detachment, Micrognathia, Macroglos... ORPHA:828
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Corneal dystrophy OMIM:609141
Osteopetrosis, Autosomal Recessive 5
Pancytopenia, Cranial hyperostosis, Leukocytosis, Increased bone mineral density, Decreased osteo... OMIM:259720
Schimke Immunoosseous Dysplasia
Thoracic kyphosis, Short neck, Ovoid vertebral bodies, Osteopenia, Shallow acetabular fossae, Ast... OMIM:242900
Gm1 Gangliosidosis
Narrow mouth, Kyphosis, Abnormal form of the vertebral bodies, Long philtrum, Optic atrophy, Cong... ORPHA:354
Peroxisome Biogenesis Disorder 5A (Zellweger)
Hepatosplenomegaly, Epiphyseal stippling, Cataract, Splenomegaly, Epicanthus, Palpebral edema, Mi... OMIM:614866
Lujan-Fryns Syndrome
High palate, Short philtrum, Camptodactyly of finger, Micrognathia, Hypoplasia of the maxilla, Sc... ORPHA:776
Geroderma Osteodysplasticum
Wormian bones, Osteopenia, Vertebral compression fracture, Recurrent fractures, Periodontitis, Be... OMIM:231070
Treacher-Collins Syndrome
Abnormality of the vertebral column, Open bite, Micrognathia, Retrognathia, Hypoplasia of the zyg... ORPHA:861
Sialidosis Type 1
Kyphosis, Abnormal form of the vertebral bodies, Cataract, Corneal opacity, Thick lower lip vermi... ORPHA:812
Ring Chromosome 21 Syndrome
Fused thoracic vertebrae, Scoliosis, Thoracic hemivertebrae ORPHA:1445
Sponastrime Dysplasia
Knee pain, Abnormality of the vertebral column, Congenital aphakia, Microdontia, Generalized join... ORPHA:93357
Mental Retardation, Skeletal Dysplasia, And Abducens Palsy
Thoracic hemivertebrae, Prominent metopic ridge, Fused cervical vertebrae, Scoliosis OMIM:309620
Coloboma, Ocular, Autosomal Dominant
Chorioretinal coloboma, Corneal opacity, Remnants of the hyaloid vascular system, Peters anomaly,... OMIM:120200
Crouzon Syndrome
Lambdoidal craniosynostosis, Shallow orbits, Abnormality of the cervical spine, Optic atrophy, Co... OMIM:123500
Microcephalic Primordial Dwarfism, Montreal Type
Abnormal palate morphology, Kyphosis, Open bite, Carious teeth, Micrognathia, Ptosis, Scoliosis, ... ORPHA:2617
Mucopolysaccharidosis Type 1
Sinusitis, Joint stiffness, Abnormal form of the vertebral bodies, Congestive heart failure, Corn... ORPHA:579
Wilson Disease
Weight loss, Arthritis, Kayser-Fleischer ring, Splenomegaly, Back pain, Anemia, Failure to thrive... ORPHA:905
Thalassemia, Beta+, Silent Allele
Reduced beta/alpha synthesis ratio OMIM:187550
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Microcornea, Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of ... OMIM:601499
Mucolipidosis Iii Alpha/Beta
Craniosynostosis, Retinal degeneration, Aortic regurgitation, Shallow acetabular fossae, Hyperopi... OMIM:252600
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Shoulder subluxation, Long philtrum, Optic nerve hypoplasia, Generalized joint laxity, Micrognath... ORPHA:508498
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Ovoid vertebral bodies, Abnormality of retinal pigmentation, Corneal opacity, Lens subluxation, H... ORPHA:85167
Spondylodysplastic Ehlers-Danlos Syndrome
Coronal cleft vertebrae, Generalized osteoporosis, Long philtrum, Radial head subluxation, Optic ... ORPHA:536471
Mucopolysaccharidosis Type 6
Sinusitis, Recurrent upper respiratory tract infections, Ovoid vertebral bodies, Kyphosis, Short ... ORPHA:583
3Mc Syndrome 2
Abnormality of the vertebral column, Craniosynostosis, Cleft upper lip, Blepharophimosis, Caudal ... OMIM:265050
Fetal Hemoglobin Quantitative Trait Locus 1
Persistence of hemoglobin F OMIM:141749
Skin Creases, Congenital Symmetric Circumferential, 2
Narrow mouth, Upslanted palpebral fissure, Short palpebral fissure, Short neck, Microcornea, Cari... OMIM:616734
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Ectopia pupillae, Corneal dystrophy OMIM:612868
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Kyphosis, Short neck, Hip osteoarthritis, Platyspondyly, Lumbar hyperlordosis, Scoliosis, Hump-sh... OMIM:313400
Temtamy Syndrome
Chorioretinal coloboma, Long philtrum, Aortic regurgitation, Ectopia lentis, Hypoplasia of teeth,... OMIM:218340
Apert Syndrome
Bifid uvula, Delayed eruption of teeth, Optic atrophy, Cervical C5/C6 vertebrae fusion, Hypoplasi... ORPHA:87
Marshall Syndrome
High palate, Hypoplastic frontal sinuses, Long philtrum, Cataract, Thick lower lip vermilion, Thi... ORPHA:560
Lichtenstein Syndrome
Recurrent infections, Enamel hypoplasia, Carious teeth, Osteoporosis, Increased susceptibility to... OMIM:246550
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Corneal dystrophy, Long philtrum, Camptodactyly of finger, High, narrow palate, Hypoplasia of the... ORPHA:1101
Premature Aging Syndrome, Penttinen Type
Wormian bones, Osteopenia, Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Os... OMIM:601812
Aicardi Syndrome
Short philtrum, Chorioretinal coloboma, Block vertebrae, Cleft upper lip, Sparse lateral eyebrow,... ORPHA:50
Axenfeld-Rieger Syndrome, Type 1
Polycoria, Abnormally prominent line of Schwalbe, Short philtrum, Hypoplasia of the iris, Posteri... OMIM:180500
Craniometadiaphyseal Dysplasia
High palate, Absent paranasal sinuses, Genu varum, Osteopenia, Wormian bones, Abnormally large gl... OMIM:269300
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Osteopenia, Small for gestational age, Slender build, Hypoplasia of the maxilla, Failure to thriv... OMIM:608154
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Narrow mouth, Upslanted palpebral fissure, Long philtrum, Astigmatism, Exaggerated cupid's bow, M... OMIM:618659
Weill-Marchesani Syndrome 1
Shallow anterior chamber, Shallow orbits, Mitral regurgitation, Joint stiffness, Cataract, Pulmon... OMIM:277600
Pde4D Haploinsufficiency Syndrome
Accelerated skeletal maturation, Short philtrum, Long philtrum, Joint laxity, Obesity, Hypotensio... ORPHA:439822
Frontometaphyseal Dysplasia
Limitation of knee mobility, Bifid uvula, Astigmatism, Micrognathia, Scoliosis, Cleft palate, Lim... ORPHA:1826
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Ocular anterior segment dysgenesis, Peters anomaly, Microphthalmia, Coloboma, Iris coloboma OMIM:610023
Gorlin-Chaudhry-Moss Syndrome
Coronal craniosynostosis, Abnormality of the dentition, Sclerocornea, Oligodontia, Astigmatism, H... ORPHA:2095
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Chorioretinal coloboma, Microcornea, Remnants of the hyaloid vascular system, Posterior lenticonu... ORPHA:231736
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Dysostosis, Stanescu Type
Wormian bones, Abnormal palate morphology, Short neck, Kyphosis, Increased bone mineral density, ... ORPHA:1798
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Iris atrophy, Downslanted palpebral fissures, Microphthalmia, Retrognathia, Dental malocclusion, ... OMIM:601552
Herpes Simplex Virus Stromal Keratitis
Descemet Membrane Folds, Corneal perforation, Herpetiform corneal ulceration, Corneal stromal ede... ORPHA:137599
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia
Genu varum, Shoulder dislocation, Long philtrum, Arrhythmia, Elbow dislocation, Downslanted palpe... OMIM:171480
Hemoglobin H Disease
Reduced alpha/beta synthesis ratio, Splenomegaly, Hemolytic anemia, HbH hemoglobin OMIM:613978
Larsen Syndrome
Cervical kyphosis, Multiple carpal ossification centers, Cleft upper lip, Shallow orbits, Tracheo... OMIM:150250
Cleft Lip/Palate
Recurrent otitis media, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors... ORPHA:199306
High palate, Abnormal thoracic spine morphology, Long philtrum, Microcornea, Cataract, Epicanthus... ORPHA:46059
Andersen-Tawil Syndrome
Torsade de pointes, Premature ventricular contraction, Micrognathia, Bidirectional ventricular ec... ORPHA:37553
8Q22.1 Microdeletion Syndrome
Craniosynostosis, Short neck, Long philtrum, Camptodactyly of finger, Blepharophimosis, Telecanth... ORPHA:178303
Lcat Deficiency
Decreased circulating apolipoprotein AI concentration, Corneal opacity, Hemolytic anemia, Hypertr... ORPHA:650
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Megalocornea-Mental Retardation Syndrome
High palate, Bifid uvula, Osteopenia, Long philtrum, Iridodonesis, Hypoplasia of the iris, Hyperc... OMIM:249310
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Short upper lip, Short neck, Microcornea, Epicanthus, Hypoplasia of the maxilla, Mi... OMIM:271960
Incontinentia Pigmenti
Uveitis, Telangiectasia of the skin, Scoliosis, Keratitis, Congestive heart failure, Cataract, Hy... ORPHA:464
Mosaic Trisomy 8
High palate, Short neck, Limitation of joint mobility, Corneal opacity, Micrognathia, Scoliosis, ... ORPHA:96061
Microcoria, Congenital
Hypoplasia of the iris dilator muscle, Microcoria OMIM:156600
Macrophthalmia, Colobomatous, With Microcornea
Coloboma, Microcornea, Macular atrophy OMIM:602499
Dominant Beta-Thalassemia
Upslanted palpebral fissure, Decreased mean corpuscular hemoglobin concentration, Failure to thri... ORPHA:231226
Multiple Sulfatase Deficiency
Joint stiffness, Thick eyebrow, Cataract, Corneal opacity, Splenomegaly, Abnormality of retinal p... ORPHA:585
48,Xxyy Syndrome
Upslanted palpebral fissure, Delayed eruption of teeth, Open bite, Carious teeth, Thick lower lip... ORPHA:10
Microphthalmia, Isolated 3
Sclerocornea OMIM:611038
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome
Abnormal hemoglobin, Anemia, Splenomegaly, Thrombocytopenia ORPHA:231393
Fanconi Anemia, Complementation Group I
Decreased body weight, Short neck, Astigmatism, Neutropenia, Microphthalmia, Fused cervical verte... OMIM:609053
Ophthalmoplegia, Familial Static
Ptosis, Anisocoria OMIM:165000
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Absent lacrimal punctum, Long philtrum, Absent eyelashes, Thick eyebrow, Ptosis, Highly arched ey... ORPHA:228396
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Prominence of the premaxilla, Congenital hip dislocatio... ORPHA:2412
Mucopolysaccharidosis Type 7
Short neck, Joint stiffness, Anterior beaking of lumbar vertebrae, Anterior beaking of lower thor... ORPHA:584
Treacher Collins Syndrome 3
Lower eyelid coloboma, Micrognathia, Downslanted palpebral fissures, Coloboma, Malar flattening, ... OMIM:248390
Elsahy-Waters Syndrome
Abnormality of the vertebral column, High palate, Bifid uvula, Phthisis bulbi, Delayed eruption o... OMIM:211380
Hirschsprung Disease-Ganglioneuroblastoma Syndrome
Abnormal pupil morphology, Prolonged QT interval, Arrhythmia ORPHA:2151
20P12.3 Microdeletion Syndrome
Narrow mouth, Long philtrum, Wolff-Parkinson-White syndrome, Hypoplasia of the maxilla, Downslant... ORPHA:261295
Hec Syndrome
Abnormal pupil morphology, Developmental cataract, Cardiomyopathy, Arrhythmia ORPHA:2119
Diamond-Blackfan Anemia 6
Bifid uvula, Cleft upper lip, Tracheomalacia, Mitral regurgitation, Micrognathia, Failure to thri... OMIM:612561
Beta-Thalassemia Major
Upslanted palpebral fissure, Decreased mean corpuscular hemoglobin concentration, Failure to thri... ORPHA:231214
Microphthalmia, Isolated, With Corectopia
Microphthalmia, Ectopia pupillae OMIM:156900
Wolf-Hirschhorn Syndrome
Accessory spleen, Ptosis, Highly arched eyebrow, Micrognathia, Scoliosis, Vertebral fusion, Epica... OMIM:194190
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Facial Dysmorphism Syndrome
Carious teeth, Supernumerary tooth, Micrognathia, Downslanted palpebral fissures, Hypoplasia of t... ORPHA:3145
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Cervical C2/C3 vertebral fusion, Short palpebral fissure, Recurrent otitis media, Overweight, Thi... ORPHA:370010
Ophthalmomandibulomelic Dysplasia
Temporomandibular joint ankylosis, Radioulnar dislocation, Elbow dislocation, Opacification of th... OMIM:164900
Cutis Laxa, Autosomal Dominant 3
Wormian bones, Developmental cataract, Osteopenia, Aortic regurgitation, Corneal opacity, Delayed... OMIM:616603
Farber Disease
Hepatosplenomegaly, Flexion contracture, Abnormal conjunctiva morphology, Corneal opacity, Osteop... ORPHA:333
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Abnormal vertebral segmentation and fusio... OMIM:118100
Mucolipidosis Ii Alpha/Beta
Long philtrum, Macroglossia, Epicanthus, Opacification of the corneal stroma, Hip dislocation, Ov... OMIM:252500
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form
Craniosynostosis, Smooth tongue, Oral mucosal blisters, Enamel hypoplasia, Generalized reticulate... ORPHA:79396
Norrie Disease
Shallow anterior chamber, Hypoplasia of the iris, Cataract, Retinal detachment, Retinal dysplasia... OMIM:310600
Nager Syndrome
Abnormal palate morphology, Joint stiffness, Non-midline cleft lip, Aplasia/Hypoplasia of the eye... ORPHA:245
Split-Hand/Foot Malformation 3
Narrow mouth, High palate, Hypoplasia of the maxilla, Microretrognathia, Camptodactyly, Cleft palate OMIM:246560
Ectodermal Dysplasia Syndrome With Distinctive Facial Appearance And Preaxial Polydactyly Of Feet
Enamel hypoplasia, Telecanthus, Carious teeth, Sparse eyebrow, Midline notch of upper alveolar ri... OMIM:129540
Weill-Marchesani Syndrome 2
Shallow orbits, Astigmatism, Scoliosis, Spinal canal stenosis, Mitral regurgitation, Lens luxatio... OMIM:608328
Anemia, Congenital Dyserythropoietic, Type Iv
Schistocytosis, Reticulocytosis, Circulating nucleated red blood cells, Hepatosplenomegaly, Poiki... OMIM:613673
Sickle Cell Anemia
Microcytic anemia, Hypochromic anemia, Reticulocytosis, Leukocytosis, Elevated circulating creati... ORPHA:232
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Short philtrum, Anterior synechiae of the anterior chamber, Hypopigmentation of hair, Delayed eru... ORPHA:3214
Methemoglobinemia, Beta Type
Methemoglobinemia OMIM:617971
Methemoglobinemia, Alpha Type
Methemoglobinemia OMIM:617973
Alpha-Mannosidosis, Adult Form
Recurrent infections, Osteopenia, Aortic regurgitation, Cataract, Corneal opacity, Macroglossia, ... ORPHA:309288
Oculocerebrocutaneous Syndrome
Hypopigmented skin patches, Corneal opacity, Congenital hip dislocation, Ptosis, Eyelid coloboma,... ORPHA:1647
Mosaic Trisomy 9
High palate, Upslanted palpebral fissure, Short neck, Limitation of joint mobility, Corneal opaci... ORPHA:99776
Ectodermal Dysplasia-Blindness Syndrome
Abnormality of skin pigmentation, Corneal dystrophy, Sclerocornea, Microcornea, Cataract, Microph... ORPHA:1806
Oculogastrointestinal Neurodevelopmental Syndrome
Unilateral ptosis, Sacral dimple, Coloboma, Bilateral microphthalmos, Hemivertebrae, Unilateral m... OMIM:619318
Mental Retardation Syndrome, Belgian Type
Coloboma, Mandibular prognathia, Eunuchoid habitus OMIM:249599
Mucolipidosis Type Iv
Abnormality of retinal pigmentation, Microdontia, Corneal opacity, Everted lower lip vermilion, G... ORPHA:578
Weill-Marchesani Syndrome 4
Phakodonesis, Ectopia lentis, Iridodonesis OMIM:613195
De Barsy Syndrome
Narrow mouth, High palate, Wormian bones, Osteopenia, Delayed eruption of teeth, Delayed closure ... ORPHA:2962
Severe Oculo-Renal-Cerebellar Syndrome
Abnormality of retinal pigmentation, Cataract, Scoliosis, Mandibular prognathia, Hypoplasia of th... ORPHA:2715
Agenesis of first permanent molar tooth, Agenesis of central incisor, Widely spaced teeth, Microd... ORPHA:99798
Chromosome 6Pter-P24 Deletion Syndrome
Narrow mouth, High palate, Short palpebral fissure, Axenfeld anomaly, Short neck, Cleft upper lip... OMIM:612582
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1
Cleft upper lip, Optic atrophy, Cataract, Corneal opacity, Retinal dysplasia, Retinal detachment,... OMIM:236670
Beta-Thalassemia, Dominant Inclusion Body Type
Microcytic anemia, Erythrocyte inclusion bodies, Decreased mean corpuscular hemoglobin concentrat... OMIM:603902
Epidermolysis Bullosa Simplex 5B, With Muscular Dystrophy
Punctate keratitis, Enamel hypoplasia, Carious teeth, Anemia, Keratitis OMIM:226670
3Mc Syndrome 3
Cleft upper lip, Sacral dimple, Blepharophimosis, Corneal opacity, Ptosis, Highly arched eyebrow,... OMIM:248340
Cataract, Downslanted palpebral fissures, Hypoplasia of the maxilla, Sparse eyelashes, Distichias... OMIM:211370
Crisponi/Cold-Induced Sweating Syndrome 1
Narrow mouth, High palate, Short neck, Long philtrum, Trismus, Elbow flexion contracture, Carious... OMIM:272430
Angelman Syndrome
Fair hair, Drooling, Hypopigmentation of the skin, Widely spaced teeth, Blue irides, Obesity, Mac... OMIM:105830
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Astigmatism, Overweight, Dental crowding, Persistence of hemoglobin F, Persistence of primary teeth OMIM:619769
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Flexion contracture, Ptosis, Hypoplasia of the maxilla, Scoliosis OMIM:218000
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft upper lip, Sparse lateral eyebrow, Hypodontia, Carious teeth, Hyperlordosis, Aplasia/Hypopl... ORPHA:3253
Nablus Mask-Like Facial Syndrome
Narrow mouth, High palate, Short palpebral fissure, Craniosynostosis, Short neck, Long philtrum, ... OMIM:608156
Long philtrum, Osteoporosis, Ptosis, Micrognathia, Hyperbilirubinemia, Anisopoikilocytosis, Epica... OMIM:607330
Scheie Syndrome