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Gene: Kat14 MGI:1917264

Gene Summary

Name:

lysine acetyltransferase 14

Synonyms:

ATAC2, 2510008M08Rik, Csrp2bp, D2Ertd473e, D2Wsu131e

Order Alleles

IMPC Data Collections

Body Weight Measurements
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

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

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal cornea morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.61×10^-07
corneal opacity	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	9.29×10^-07
abnormal maxilla morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.47×10^-05
decreased body length	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	8.93×10^-09
corneal vascularization	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.22×10^-05
decreased lean body mass	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.29×10^-05
abnormal eye morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	7.07×10^-05
decreased body weight	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.80×10^-07
vertebral fusion	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.93×10^-05
abnormal cranium morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.89×10^-06
increased circulating creatine kinase level	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.78×10^-06
eyelids fail to open	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.77×10^-09
abnormal pupil morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.04×10^-07
abnormal iris morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.06×10^-06
abnormal tooth morphology	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.83×10^-05
decreased bone mineral content	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	4.06×10^-05
abnormal eye pigmentation	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.00×10^-06
decreased hemoglobin content	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	2.68×10^-05
abnormal eyelid aperture	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	3.81×10^-09
abnormal eye size	Kat14^{tm1a(KOMP)Wtsi}	HOM	Early adult	1.43×10^-08

Download data as: TSV XLS

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Viewing: all phenotypes

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.

Human diseases associated with Kat14 (0 diseases)
Human diseases predicted to be associated with Kat14 (858 diseases)

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	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
Galactosialidosis	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
Alpha-Mannosidosis	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
Megalocornea	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
Triopia	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
Frontorhiny	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
Diaphanospondylodysostosis	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
Pycnodysostosis	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
Lathosterolosis	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
Fucosidosis	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	Anisocoria, Cataract, Retinal pigment epithelial mottling	OMIM:619649
Autosomal Recessive Distal Osteolysis Syndrome	Hypoplasia of the maxilla, Osteolysis, Abnormality of the dentition	ORPHA:2776
Hajdu-Cheney Syndrome	Abnormal mandible morphology, Patellar dislocation, Micrognathia, Synophrys, Osteolysis, Iris col...	ORPHA:955
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Walker-Warburg Syndrome	Abnormal circulating creatine kinase concentration, Bifid uvula, Submucous cleft hard palate, Mic...	ORPHA:899
Beta-Thalassemia Major	Abnormality of iron homeostasis, Malar prominence, Hepatosplenomegaly, Splenomegaly, High-output ...	ORPHA:231214
Oculo-Palato-Cerebral Syndrome	Leukocoria, Joint hypermobility, Cataract, Microphthalmia, Cleft palate, High, narrow palate	ORPHA:2714
2Q31.1 Microdeletion Syndrome	Camptodactyly of finger, Coloboma, Epicanthus, Micrognathia, Synophrys, Everted lower lip vermili...	ORPHA:251014
Oligodontia	Delayed eruption of teeth, Microdontia, Taurodontia, Abnormality of primary molar morphology, Sho...	ORPHA:99798
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Abnormally large globe, Flexion contracture, Coloboma, Retinal degeneration, Cataract, Scoliosis,...	OMIM:615249
Flat Face-Microstomia-Ear Anomaly Syndrome	Camptodactyly of finger, Sparse eyebrow, Long philtrum, Blepharophimosis, Micrognathia, Abnormal ...	ORPHA:1968
Intellectual Developmental Disorder With Impaired Language And Dysmorphic Facies	Delayed cranial suture closure, High palate, Heart murmur, Epicanthus, Accelerated skeletal matur...	OMIM:618653
Pfeiffer Syndrome	Hyperlordosis, Mandibular prognathia, High palate, Synostosis of carpal bones, Short philtrum, Pt...	ORPHA:710
Cleidocranial Dysplasia	Delayed eruption of teeth, Micrognathia, Spina bifida occulta, Cleft palate, Glossoptosis, Abnorm...	ORPHA:1452
Monosomy 18P	Epicanthus, Micrognathia, Hypodontia, Short philtrum, Hypertension, Ptosis, Kyphoscoliosis, Downt...	ORPHA:1598
Stevenson-Carey Syndrome	Downslanted palpebral fissures, Pierre-Robin sequence, Coloboma, Joint contracture of the hand, R...	OMIM:611961
Trichothiodystrophy 3, Photosensitive	Natal tooth, Eclabion, Developmental cataract, Lymphopenia, Failure to thrive, Cataract, Ectropio...	OMIM:616395
Aarskog-Scott Syndrome	Downslanted palpebral fissures, Cleft upper lip, Hyperextensibility of the finger joints, Hypodon...	OMIM:305400
Dyskeratosis Congenita	Premature graying of hair, Taurodontia, Abnormal eyelash morphology, Thrombocytopenia, Splenomega...	ORPHA:1775
Scalp-Ear-Nipple Syndrome	Supraventricular tachycardia, Mandibular prognathia, Epicanthus, Blepharophimosis, Bifid uvula, N...	OMIM:181270
Osteomyelitis, Sterile Multifocal, With Periostitis And Pustulosis	Osteomyelitis, Fused cervical vertebrae, Neutrophilia, Stomatitis, Osteolysis, Periostitis, Osteo...	OMIM:612852
Cowden Syndrome 5	High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis...	OMIM:615108
Lathosterolosis	Thick upper lip vermilion, Epicanthus, Micrognathia, Butterfly vertebrae, Hepatosplenomegaly, Gin...	OMIM:607330
Mucolipidosis Ii Alpha/Beta	Hip subluxation, Epicanthus, Micrognathia, Atlantoaxial dislocation, Camptodactyly, Hip dislocati...	OMIM:252500
Acrofrontofacionasal Dysostosis 1	S-shaped palpebral fissures, Cleft upper lip, Mandibular prognathia, Wide mouth, Long eyebrows, O...	OMIM:201180
Diamond-Blackfan Anemia 6	Retrognathia, Cleft upper lip, Micrognathia, Bifid uvula, Tracheomalacia, Persistence of hemoglob...	OMIM:612561
Cystinosis	Hypophosphatemia, Hypokalemia, Rickets, Failure to thrive, Corneal opacity, Portal hypertension	ORPHA:213
Rothmund-Thomson Syndrome	Delayed eruption of teeth, Selective tooth agenesis, Microdontia, Abnormal trabecular bone morpho...	ORPHA:2909
Wolf-Hirschhorn Syndrome	Optic atrophy, Epicanthus, Micrognathia, Abnormal lip morphology, Iris coloboma, Delayed skeletal...	ORPHA:280
Caudal Regression Syndrome	Hypertension, Hypoplastic vertebral bodies, Abnormal vertebral segmentation and fusion, Scoliosis...	ORPHA:3027
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Conjunctivitis, Sparse eyebrow, Enamel hypoplasia, Cataract, Carious teeth, Sparse eyelashes, Ker...	OMIM:612843
Tbck-Related Intellectual Disability Syndrome	Mandibular prognathia, Long philtrum, Epicanthus, Synophrys, Pulmonic stenosis, Macroglossia, Pro...	ORPHA:488632
Duane-Radial Ray Syndrome	Shoulder dislocation, Palpebral fissure narrowing on adduction, Epicanthus, Fused cervical verteb...	OMIM:607323
Facial Dysmorphism-Shawl Scrotum-Joint Laxity Syndrome	Downslanted palpebral fissures, Genu valgum, Mandibular prognathia, Epicanthus, Ptosis, Cubitus v...	ORPHA:1778
Chime Syndrome	Retinal coloboma, Epicanthus, Microdontia, Abnormality of dental morphology, Hypodontia, Short ph...	ORPHA:3474
Myhre Syndrome	Short palpebral fissure, Mandibular prognathia, Gingival cleft, Blepharophimosis, Abnormal lip mo...	ORPHA:2588
Focal Dermal Hypoplasia	Camptodactyly of finger, Hypoplasia of the iris, Abnormality of dental morphology, Telangiectasia...	ORPHA:2092
Norrie Disease	Abnormal pupil morphology, Hypoplasia of the iris, Anterior chamber synechiae, Cachexia, Abnormal...	ORPHA:649
Hallermann-Streiff Syndrome	Selective tooth agenesis, Micrognathia, Everted lower lip vermilion, Iris coloboma, Thin vermilio...	OMIM:234100
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Micrognathia, Dental crowding, Everted lower lip vermilion, Hy...	OMIM:616367
Fibrodysplasia Ossificans Progressiva	Ectopic ossification in ligament tissue, Small cervical vertebral bodies, Widely spaced teeth, Ec...	OMIM:135100
Rodrigues Blindness	Tooth malposition, Microphthalmia, Sclerocornea, Microcornea	OMIM:268320
Alkaptonuria	Vertebral fusion, Kyphosis, Arthropathy, Low back pain, Arthritis, Limited hip movement, Limited ...	OMIM:203500
Anemia, Congenital Dyserythropoietic, Type Iv	Reduced haptoglobin level, Anemia, Reduced hematocrit, Hemolytic anemia, Weight loss, Circulating...	OMIM:613673
Microphthalmia, Isolated, With Coloboma 7	Microphthalmia, Coloboma	OMIM:614497
Xp22.3 Microdeletion Syndrome	Sacral dimple, Opacification of the corneal stroma	ORPHA:1643
Acrodysostosis	Mandibular prognathia, Delayed eruption of teeth, Epicanthus, Epiphyseal stippling, Spinal canal ...	ORPHA:950
Infant Botulism	Hypotension, Mydriasis, Cardiac arrest, Keratoconjunctivitis sicca, Hypertension, Ptosis, Hyponat...	ORPHA:178478
Robinow Syndrome	Marked delay in eruption of permanent teeth, Bifid tongue, Micrognathia, Gingival overgrowth, Oro...	ORPHA:97360
Congenital Muscular Dystrophy With Cerebellar Involvement	Megalocornea, Lumbar hyperlordosis, Macroglossia, Elevated circulating creatine kinase concentrat...	ORPHA:370959
Poikiloderma With Neutropenia	Conjunctivitis, Sparse eyebrow, Retrognathia, Telangiectasia, Sparse lateral eyebrow, Long philtr...	OMIM:604173
Intestinal Botulism	Ptosis, Mydriasis	ORPHA:178481
Intellectual Developmental Disorder With Persistence Of Fetal Hemoglobin	Retrognathia, Downslanted palpebral fissures, Epicanthus, Micrognathia, Anterior concavity of tho...	OMIM:617101
Hypomandibular Faciocranial Dysostosis	Coronal craniosynostosis, Micrognathia, Hypoplasia of the maxilla, Pursed lips, Malar flattening,...	OMIM:241310
Corneal Dystrophy, Posterior Polymorphous, 4	Ectopia pupillae	OMIM:618031
Hajdu-Cheney Syndrome	Osteolytic defects of the phalanges of the hand, Foot acroosteolysis, Epicanthus, Synophrys, Micr...	OMIM:102500
Toxin-Mediated Infectious Botulism	Ptosis, Mydriasis	ORPHA:230800
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Flexion contracture, High palate, Hypoplasia of the maxilla, Ptosis, Scoliosis	OMIM:218000
Rothmund-Thomson Syndrome Type 2	Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Juvenile cataract, T...	ORPHA:221016
Srd5A3-Cdg	Coloboma, Optic atrophy, Kyphosis, Oligodontia, Abnormal sacrum morphology, Cataract	ORPHA:324737
Sickle Cell Anemia	Avascular necrosis, Elevated circulating creatinine concentration, Hemolytic anemia, Osteomyeliti...	ORPHA:232
Cowden Syndrome 6	High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis...	OMIM:615109
Microphthalmia With Linear Skin Defects Syndrome	Abnormal nasolacrimal system morphology, Mandibular aplasia, Micrognathia, Hypertrophic cardiomyo...	ORPHA:2556
Fish-Eye Disease	Splenomegaly, Angina pectoris, Decreased HDL cholesterol concentration, Corneal opacity	ORPHA:79292
Hereditary Bullous Dystrophy, Macular Type	Heart murmur, Spotty hypopigmentation, Cataract, Corneal opacity, Hyperpigmentation of the skin	ORPHA:1867
Familial Congenital Mirror Movements	Fused cervical vertebrae	ORPHA:238722
Kabuki Syndrome	Vertebral clefting, Lip pit, Coloboma, Microdontia, Butterfly vertebrae, Hip dislocation, Cleft p...	ORPHA:2322
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short palpebral fissure, Sparse eyebrow, Retrognathia, Blepharophimosis, Micrognathia, Hypodontia...	OMIM:613026
Thalassemia, Beta+, Silent Allele	Reduced beta/alpha synthesis ratio	OMIM:187550
Wound Botulism	Ptosis, Mydriasis, Cardiac arrest	ORPHA:178475
Microphthalmia, Syndromic 2	Flexion contracture, Decreased body weight, Delayed eruption of teeth, Bifid uvula, Iris coloboma...	OMIM:300166
Van Maldergem Syndrome 2	Irregular dentition, Dental malocclusion, Sacral dimple, Hip subluxation, High palate, Short palp...	OMIM:615546
Peroxisome Biogenesis Disorder 12A (Zellweger)	Delayed closure of the anterior fontanelle, Decreased body weight, Epicanthus, Hyperbilirubinemia...	OMIM:614886
Gomez-Lopez-Hernandez Syndrome	Downslanted palpebral fissures, High palate, Thin vermilion border, Smooth philtrum, Malar flatte...	OMIM:601853
Kagami-Ogata Syndrome	Retrognathia, Short palpebral fissure, Pulmonary arterial hypertension, Flexion contracture, Long...	OMIM:608149
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Persistence of hemoglobin F, Astigmatism, Persistence of primary teeth, Overweight, Dental crowding	OMIM:619769
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Micrognathia, Orofacial cleft, Multiple cafe-au-lait spots, Scoliosis, Telangiectasia...	ORPHA:1556
Trichorhinophalangeal Syndrome, Type I	Hyperlordosis, Dental malocclusion, Ivory epiphyses of the distal phalanges of the hand, Narrow p...	OMIM:190350
Revesz Syndrome	Megalocornea, Leukocoria, Oral leukoplakia, Fine, reticulate skin pigmentation, Aplastic anemia	OMIM:268130
Iatrogenic Botulism	Orthostatic hypotension, Ptosis, Mydriasis	ORPHA:254509
Rothmund-Thomson Syndrome Type 1	Delayed eruption of teeth, Abnormal trabecular bone morphology, Microdontia, Juvenile cataract, T...	ORPHA:221008
Fetal Hemoglobin Quantitative Trait Locus 1	Persistence of hemoglobin F	OMIM:141749
Hemoglobin H Disease	HbH hemoglobin, Splenomegaly, Hemolytic anemia, Reduced alpha/beta synthesis ratio	OMIM:613978
Hemoglobin E Disease	Increased red blood cell count, Reduced hemoglobin A, Drug-sensitive hemolytic anemia, Hypochromi...	ORPHA:2133
1Q41Q42 Microdeletion Syndrome	Submucous cleft hard palate, Hyposegmentation of neutrophil nuclei, Upslanted palpebral fissure, ...	ORPHA:250999
Cowden Syndrome 1	High palate, Kyphosis, Micrognathia, Hypoplasia of the maxilla, Cataract, Narrow mouth, Scoliosis...	OMIM:158350
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Upslanted palpebral fissure, Mandibular prognathia, High palate, Decreased body weight, Flexion c...	OMIM:300534
Chondroitin-6-Sulfaturia, Defective Cellular Immunity, Nephrotic Syndrome	Small for gestational age, Opacification of the corneal stroma, Generalized bone demineralization...	OMIM:215250
Mohr Syndrome	Lobulated tongue, Bifid tongue, High palate, Tongue nodules, Micrognathia, Median cleft lip, Hypo...	OMIM:252100
48,Xxxy Syndrome	Pulmonary embolism, Upslanted palpebral fissure, Mandibular prognathia, Recurrent respiratory inf...	ORPHA:96263
Pycnodysostosis	Spondylolysis, Narrow palate, Delayed eruption of primary teeth, Micrognathia, Hypodontia, Increa...	OMIM:265800
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Restricted large joint movement, Micrognathia, Delayed ossification of carpal bones, Abnormal ver...	ORPHA:93346
Arthrogryposis And Ectodermal Dysplasia	Cleft upper lip, Entropion, Joint contracture of the hand, Blepharophimosis, Oligodontia, Camptod...	OMIM:601701
Oculodentodigital Dysplasia	Selective tooth agenesis, Epicanthus, Microdontia, Taurodontia, Hip dislocation, Cleft palate, Sh...	OMIM:164200
Chops Syndrome	Long philtrum, Optic atrophy, Synophrys, Long eyelashes, Thick eyebrow, Cataract, Downturned corn...	OMIM:616368
Vascular Ehlers-Danlos Syndrome	Gingivitis, Hypoplastic lacrimal duct, Melanocytic nevus, Epicanthus, Microdontia, Abnormal oral ...	ORPHA:286
Dermochondrocorneal Dystrophy	Anterior cortical cataract, Corneal dystrophy, Subepithelial corneal opacities	OMIM:221800
Mucopolysaccharidosis Type 3	Flexion contracture, Optic atrophy, Synophrys, Abnormal form of the vertebral bodies, Recurrent t...	ORPHA:581
Keipert Syndrome	Epicanthus, Hypoplasia of the maxilla, Ptosis, Tented upper lip vermilion, Exaggerated cupid's bow	ORPHA:2662
Acrofacial Dysostosis, Cincinnati Type	Retrognathia, Downslanted palpebral fissures, Decreased body weight, Micrognathia, Acetabular dys...	OMIM:616462
Hypohidrotic Ectodermal Dysplasia	Irregular hyperpigmentation, Aplasia/Hypoplasia of the eyebrow, Generalized hypopigmentation of h...	ORPHA:238468
Beta-Thalassemia-X-Linked Thrombocytopenia Syndrome	Anemia, Thrombocytopenia, Abnormal hemoglobin, Splenomegaly	ORPHA:231393
Encephalocraniocutaneous Lipomatosis	Pulmonary arterial hypertension, Abnormal nasolacrimal system morphology, Abnormal eyelid morphol...	ORPHA:2396
Kaufman Oculocerebrofacial Syndrome	Sparse eyebrow, Upslanted palpebral fissure, High palate, Epicanthus, Blepharophimosis, Micrognat...	OMIM:244450
Trichinellosis	Conjunctivitis, Retinal hemorrhage, Anisocoria, Abnormal uvea morphology, Trismus, Conjunctival h...	ORPHA:863
Shprintzen-Goldberg Syndrome	Retrognathia, Camptodactyly of finger, Genu valgum, Downslanted palpebral fissures, Craniosynosto...	ORPHA:2462
Kindler Epidermolysis Bullosa	Conjunctivitis, Gingivitis, Anemia, Abnormality of skin pigmentation, Camptodactyly of finger, Fl...	ORPHA:2908
Neuroocular Syndrome	Lagophthalmos, Synophrys, Torus palatinus, Lens coloboma, Iris coloboma, Peters anomaly, Blue iri...	OMIM:619539
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Camptodactyly of finger, Abnormal nasolacrimal system morphology, Corneal erosion, Delayed skelet...	ORPHA:2273
Bartsocas-Papas Syndrome 1	Flexion contracture, Micrognathia, Short neck, Cleft palate, Corneal ulceration, Arthrogryposis m...	OMIM:263650
Microphthalmia With Limb Anomalies	Optic atrophy, Micrognathia, Hip dislocation, Elbow dislocation, Cleft palate, Abnormal form of t...	ORPHA:1106
Ablepharon Macrostomia Syndrome	Camptodactyly of finger, Cryptophthalmos, Abnormality of skin pigmentation, Corneal erosion, Wide...	ORPHA:920
Shprintzen-Goldberg Craniosynostosis Syndrome	Dental malocclusion, Genu valgum, Downslanted palpebral fissures, High palate, Narrow palate, Joi...	OMIM:182212
Marshall-Smith Syndrome	Irregular dentition, Decreased body weight, Microdontia, Atlantoaxial dislocation, Synophrys, Opt...	OMIM:602535
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Camptodactyly of finger, Sparse eyebrow, Hypoplasia of the frontal bone, Epicanthus, Hypoplasia o...	ORPHA:306542
Syndromic Recessive X-Linked Ichthyosis	Acute leukemia, Corneal opacity	ORPHA:281090
Rapp-Hodgkin Syndrome	Conical tooth, Enamel hypoplasia, Cleft upper lip, Sparse eyebrow, Absent lacrimal punctum, Micro...	OMIM:129400
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Hyperlordosis, Blepharospasm, Narrow palate, Optic atrophy, Epica...	ORPHA:794
Branchioskeletogenital Syndrome	Unilateral cleft palate, Synophrys, Bifid uvula, Short neck, Telecanthus, Abnormality of the vert...	ORPHA:1299
Neurooculocardiogenitourinary Syndrome	Coloboma, Epicanthus, Downturned corners of mouth, Peters anomaly, Microphthalmia, Smooth philtru...	OMIM:618652
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Coloboma, Micrognathia, Microphthalmia, Osteopetrosis, Shallow orbits	OMIM:617306
Osteogenesis Imperfecta	Flexion contracture, Delayed eruption of teeth, Micrognathia, Dislocated radial head, Thrombocyto...	ORPHA:666
Nablus Mask-Like Facial Syndrome	Retrognathia, Short palpebral fissure, Sparse eyebrow, High palate, Long philtrum, Joint contract...	OMIM:608156
Fryns Syndrome	Non-midline cleft lip, High palate, Long philtrum, Wide mouth, Micrognathia, Median cleft lip, Te...	ORPHA:2059
Ectopia Pupillae	Ectopia pupillae	OMIM:129750
Ichthyosis, X-Linked	Opacification of the corneal stroma	OMIM:308100
Galloway-Mowat Syndrome 1	Hypopigmentation of the skin, High palate, Wide mouth, Epicanthus, Small for gestational age, Hyp...	OMIM:251300
Stromme Syndrome	Wide mouth, Micrognathia, Microcornea, Optic nerve hypoplasia, Iris coloboma, Peters anomaly, Cat...	OMIM:243605
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Orthostatic hypotension, Short philtrum, Ptosis, Downturned corners of mouth, Anisocoria	OMIM:615510
Branchio-Oculo-Facial Syndrome	Non-midline cleft lip, High palate, Coloboma, Upper lip pit, Deep philtrum, Microdontia, Microcor...	ORPHA:1297
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Patellar dislocation, Fused cervical vertebrae, Micrognathia, Hip dislocation, Scolio...	ORPHA:3320
Lethal Short-Limb Skeletal Dysplasia, Al Gazali Type	Opacification of the corneal stroma, Wormian bones, Platyspondyly	OMIM:601356
X-Linked Intellectual Disability, Porteous Type	Short philtrum, Mandibular prognathia, Decreased body weight, Hypoplasia of the maxilla	ORPHA:93945
Van Den Ende-Gupta Syndrome	Sacral dimple, Knee flexion contracture, Abnormal eyebrow morphology, High palate, Joint contract...	OMIM:600920
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Sparse eyebrow, Long philtrum, Micrognathia, Synophrys, Keratoconjunctivitis sicca, Tented philtr...	ORPHA:495875
Osteopetrosis, Autosomal Recessive 2	Anemia, Mandibular prognathia, Genu valgum, Osteomyelitis, Recurrent fractures, Osteopetrosis, Pa...	OMIM:259710
Beta-Thalassemia, Dominant Inclusion Body Type	Increased HbA2 hemoglobin, Decreased mean corpuscular hemoglobin concentration, Persistence of he...	OMIM:603902
Frontofacionasal Dysplasia	S-shaped palpebral fissures, Cleft upper lip, Hypoplasia of the frontal bone, Blepharophimosis, A...	OMIM:229400
Recessive X-Linked Ichthyosis	Opacification of the corneal stroma	ORPHA:461
Abruzzo-Erickson Syndrome	Cleft palate, Radioulnar synostosis, Coloboma	OMIM:302905
Generalized Eruptive Keratoacanthoma	Conjunctivitis, Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion	ORPHA:411777
Dyschondrosteosis-Nephritis Syndrome	Madelung deformity, Microdontia, Corneal opacity	ORPHA:1765
Charcot-Marie-Tooth Disease Type 4C	Difficulty in tongue movements, Tongue atrophy, Neuropathic spinal arthropathy, Tongue fasciculat...	ORPHA:99949
Craniotubular Dysplasia, Ikegawa Type	Thick upper lip vermilion, Thin bony cortex, Increased intervertebral space, Long philtrum, Mydri...	OMIM:619727
Sitosterolemia 1	Stomatocytosis, Hypercholesterolemia, Anemia, Corneal arcus, Reduced haptoglobin level, Arthritis...	OMIM:210250
Simpson-Golabi-Behmel Syndrome	Camptodactyly of finger, Downslanted palpebral fissures, Vertebral fusion, Cleft upper lip, Mandi...	ORPHA:373
Mosaic Variegated Aneuploidy Syndrome	Downslanted palpebral fissures, Abnormality of skin pigmentation, Epicanthus, Micrognathia, Acute...	ORPHA:1052
Foodborne Botulism	Ptosis, Mydriasis, Arrhythmia	ORPHA:228371
Inhalational Botulism	Ptosis, Mydriasis	ORPHA:254504
Facial Clefting, Oblique, 1	Microphthalmia, Cleft palate, Cleft upper lip, Coloboma	OMIM:600251
Microphthalmia, Syndromic 5	Coloboma, Joint laxity, Optic nerve hypoplasia, Microcornea, Cataract, Microphthalmia, Cleft palate	OMIM:610125
Beta-Thalassemia	Anemia, Abnormality of iron homeostasis, Hypertrophic cardiomyopathy, Thrombocytopenia, Abnormal ...	ORPHA:848
Mosaic Trisomy 1	Short upper lip, Camptodactyly of finger, Downslanted palpebral fissures, Wide mouth, Thick lower...	ORPHA:1692
Craniolenticulosutural Dysplasia	Punctate cataract, Delayed closure of the anterior fontanelle, High palate, Long philtrum, Wide m...	OMIM:607812
Pierson Syndrome	Retinal hemorrhage, Microcoria, Rieger anomaly, Hypoplasia of the ciliary body, Hypoplasia of the...	OMIM:609049
Microcephaly-Capillary Malformation Syndrome	Small for gestational age, Hypoplasia of the maxilla, Ptosis, Failure to thrive, Cleft palate	OMIM:614261
Peroxisome Biogenesis Disorder 1A (Zellweger)	Brushfield spots, High palate, Epicanthus, Micrognathia, Epiphyseal stippling, Macroglossia, Elev...	OMIM:214100
Witteveen-Kolk Syndrome	Medial flaring of the eyebrow, Epicanthus, Iris coloboma, Delayed skeletal maturation, Smooth phi...	OMIM:613406
Fabry Disease	Abnormal circulating lipid concentration, Angina pectoris, Hypertrophic cardiomyopathy, Hyperlipi...	ORPHA:324
Distal Xq28 Microduplication Syndrome	Aplasia/Hypoplasia of the eyebrow, High palate, Cafe-au-lait spot, Short lingual frenulum, Thick ...	ORPHA:293939
Mandibulofacial Dysostosis-Microcephaly Syndrome	Epicanthus, Micrognathia, Hypoplasia of the maxilla, Accessory oral frenulum, Upslanted palpebral...	ORPHA:79113
Dubowitz Syndrome	Epicanthus, Delayed eruption of teeth, Micrognathia, Acute lymphoblastic leukemia, Iris coloboma,...	OMIM:223370
Methemoglobinemia, Beta Type	Methemoglobinemia	OMIM:617971
Methemoglobinemia, Alpha Type	Methemoglobinemia	OMIM:617973
Intellectual Disability-Craniofacial Dysmorphism-Cryptorchidism Syndrome	Downslanted palpebral fissures, Coloboma, Wide mouth, Bilateral ptosis, Synophrys, Long eyelashes...	ORPHA:329224
Mucopolysaccharidosis Type 2, Severe Form	Camptodactyly of finger, Flexion contracture, Optic atrophy, Papilledema, Gingival overgrowth, Re...	ORPHA:217085
Trichothiodystrophy 4, Nonphotosensitive	Retrognathia, Optic atrophy, Epicanthus, Keratoconjunctivitis sicca, Microcornea, Microphthalmia,...	OMIM:234050
Intellectual Disability-Alacrima-Achalasia Syndrome	Anisocoria, Deep philtrum	ORPHA:289483
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Asplenia, Flexion contracture, Epicanthus, Delayed eruption of teeth, Broad eyebrow, Bifid uvula,...	ORPHA:261552
Acro-Renal-Mandibular Syndrome	Downslanted palpebral fissures, Aplasia/Hypoplasia of the tongue, High palate, Kyphosis, Microgna...	ORPHA:958
Charcot-Marie-Tooth Disease Type 1E	Anisocoria, Abnormal pupil morphology, Joint contracture of the hand	ORPHA:90658
Acrofacial Dysostosis, Catania Type	Downslanted palpebral fissures, Microretrognathia, Spina bifida occulta, Abnormal palate morpholo...	ORPHA:1786
Pfeiffer Syndrome	Downslanted palpebral fissures, Mandibular prognathia, High palate, Humeroradial synostosis, Coro...	OMIM:101600
Mucopolysaccharidosis Type 2, Attenuated Form	Camptodactyly of finger, Flexion contracture, Optic atrophy, Papilledema, Gingival overgrowth, Re...	ORPHA:217093
Mucopolysaccharidosis Type 2	Recurrent ear infections, Cardiomyopathy, Flexion contracture of digit, Contractures of the large...	ORPHA:580
Encephalocraniocutaneous Lipomatosis	Linear hyperpigmentation, Hypoplasia of the iris, Limbal dermoid, Eyelid coloboma, Microphthalmia...	OMIM:613001
Melanocytic Nevus Syndrome, Congenital	Long philtrum, Deep philtrum, Congenital giant melanocytic nevus, Prominence of the premaxilla, E...	OMIM:137550
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Knee flexion contracture, Recurrent bacterial skin infections, Sparse eyebrow, Corneal scarring, ...	OMIM:148210
Pseudo-Torch Syndrome 1	High palate, Long philtrum, Microretrognathia, Failure to thrive, Cataract, Thrombocytopenia, Cle...	OMIM:251290
Usher Syndrome Type 2	Iris hypopigmentation, Microdontia, Cataract, Carious teeth, Abnormality of dental color, Abnorma...	ORPHA:231178
Meier-Gorlin Syndrome 1	Flexion contracture, Micrognathia, Microdontia, Osteochondritis dissecans, Camptodactyly, Elbow d...	OMIM:224690
Treacher Collins Syndrome 3	Downslanted palpebral fissures, Micrognathia, Hypoplasia of the zygomatic bone, Malar flattening,...	OMIM:248390
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Retrognathia, Fused cervical vertebrae, Submucous cleft hard palate, Butterfly vertebrae, Spina b...	OMIM:619227
Ritscher-Schinzel Syndrome 1	Downslanted palpebral fissures, Coloboma, Micrognathia, Aortic valve stenosis, Cleft palate, Hemi...	OMIM:220210
Short Stature-Brachydactyly-Obesity-Global Developmental Delay Syndrome	Retrognathia, Patellar hypoplasia, Long philtrum, Dacryocystitis, Coloboma, Short neck, Thin verm...	ORPHA:464288
Ocular Cystinosis	Corneal crystals	ORPHA:411641
Distal Limb Deficiencies-Micrognathia Syndrome	High palate, Microdontia, Abnormality of the wrist, Microretrognathia, Hypoplasia of the maxilla,...	ORPHA:1307
Peroxisome Biogenesis Disorder 5A (Zellweger)	Epicanthus, Micrognathia, Epiphyseal stippling, Camptodactyly, Hepatosplenomegaly, Cleft palate, ...	OMIM:614866
Cutis Marmorata Telangiectatica Congenita	Leukocoria, Telangiectasia, Hypertension	OMIM:219250
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Corneal scarring, Macular atrophy, Buphthalmos, Cataract, Iris coloboma, Microphthalmia, Choriore...	OMIM:212550
Congenital Sialidosis Type 2	Telangiectasia, Optic atrophy, Abnormal EKG, Developmental cataract, Cataract, Protruding tongue,...	ORPHA:93400
Xeroderma Pigmentosum	Telangiectasia, Melanocytic nevus, Entropion, Ankyloblepharon, Pterygium, Craniofacial hyperostos...	ORPHA:910
Williams Syndrome	Sudden cardiac death, Abnormal circulating lipid concentration, Patellar dislocation, Epicanthus,...	ORPHA:904
Apert Syndrome	Delayed cranial suture closure, Dental malocclusion, Sagittal craniosynostosis, Mandibular progna...	OMIM:101200
Smith-Lemli-Opitz Syndrome	Bifid tongue, Optic atrophy, Epicanthus, Micrognathia, Hip dislocation, Iris coloboma, Short neck...	ORPHA:818
Blackfan-Diamond Anemia	Acute myeloid leukemia, Cleft soft palate, Epicanthus, Micrognathia, Short neck, Thrombocytopenia...	ORPHA:124
Coats Disease	Leukocoria, Retinal telangiectasia	OMIM:300216
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Camptodactyly of finger, High palate	ORPHA:85279
Hermansky-Pudlak Syndrome 2	Enlarged platelet dense granules, Ocular albinism, Epicanthus, Fair hair, Hepatosplenomegaly, Smo...	OMIM:608233
Nephronophthisis 11	Anisocoria, Anemia	OMIM:613550
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Ptosis, Abnormal palate morphology, Mandibular prognathia	ORPHA:1540
Histiocytoid Cardiomyopathy	Supraventricular tachycardia, Megalocornea, Right bundle branch block, Wolff-Parkinson-White synd...	ORPHA:137675
Holoprosencephaly	Optic atrophy, Epicanthus, Synophrys, Median cleft lip, Iris coloboma, Short neck, Tooth agenesis...	ORPHA:2162
Pseudohermaphroditism, Female, With Skeletal Anomalies	Hypoplasia of the maxilla, Ulnar radial head dislocation, Short mandibular condyles	OMIM:264270
Osteoporosis-Pseudoglioma Syndrome	Increased susceptibility to fractures, Biconcave vertebral bodies, Severe platyspondyly, Kyphosis...	OMIM:259770
Intellectual Developmental Disorder, X-Linked, Syndromic 17	Anisocoria	OMIM:300858
Stuve-Wiedemann Syndrome 1	Micrognathia, Elbow flexion contracture, Camptodactyly, Short neck, Ovoid vertebral bodies, Smoot...	OMIM:601559
Multiple Sulfatase Deficiency	Retinal degeneration, Corneal opacity, Hypoplastic vertebral bodies	OMIM:272200
Gaucher Disease	Increased bone mineral density, Osteolysis, Delayed skeletal maturation, Thrombocytopenia, Arthro...	ORPHA:355
Ramos-Arroyo Syndrome	Dacryocystitis, Decreased body weight, Long philtrum, Choriocapillaris atrophy, Narrow palpebral ...	ORPHA:1051
Cockayne Syndrome B	Ivory epiphyses of the phalanges of the hand, Splenomegaly, Developmental cataract, Limitation of...	OMIM:133540
Olmsted Syndrome 1	Opacification of the corneal stroma, Flexion contracture, Corneal opacity	OMIM:614594
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Flexion contracture, High palate, Deep philtrum, Hyperextensibility of the finger joints, Microgn...	OMIM:309520
Neurotrophic Keratopathy	Corneal scarring, Corneal stromal edema, Astigmatism, Corneal perforation, Recurrent corneal eros...	ORPHA:137596
Intellectual Disability Syndrome Due To A Dyrk1A Point Mutation	Abnormality of the cervical spine, Kyphosis, Small for gestational age, Aortic regurgitation, Ast...	ORPHA:464311
Neurofibromatosis Type 1	Melanocytic nevus, Generalized hyperpigmentation, Freckling, Multiple cafe-au-lait spots, Genu va...	ORPHA:636
Hereditary Acrokeratotic Poikiloderma	Camptodactyly of finger, Gingivitis, Irregular hyperpigmentation, Abnormal pigmentation of the or...	ORPHA:2907
Spondylocostal Dysostosis With Anal Atresia And Urogenital Anomalies	Vertebral fusion, Supernumerary vertebrae, Block vertebrae, Short neck, Scoliosis, Hemivertebrae	OMIM:271520
Porphyria, Congenital Erythropoietic	Conjunctivitis, Hypopigmentation of the skin, Hemolytic anemia, Joint contracture of the hand, Co...	OMIM:263700
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Hip subluxation, Micrognathia, Synophrys, Thick eyebrow, Glossoptosis, Abnormal vertebral morphol...	ORPHA:444077
Facial Spasm	Anisocoria	OMIM:134300
Chromosome 16P13.3 Duplication Syndrome	Epicanthus, Micrognathia, Microdontia, Bifid uvula, Hip dislocation, Camptodactyly, Synophrys, Sh...	OMIM:613458
Oculoectodermal Syndrome	Epicanthus, Transient ischemic attack, Giant cell granuloma of mandible, Limbal dermoid, Microcor...	OMIM:600268
Distal 17P13.1 Microdeletion Syndrome	Retrognathia, High palate, Generalized joint laxity, Limited elbow movement, Limitation of knee m...	ORPHA:319171
Acetophenetidin Sensitivity	Methemoglobinemia, Hemolytic anemia	OMIM:200300
Carpenter Syndrome	Genu valgum, Kyphoscoliosis, Abnormal cornea morphology, Obesity, Craniosynostosis	ORPHA:65759
Hemoglobin C-Beta-Thalassemia Syndrome	Anemia, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:231242
Mowat-Wilson Syndrome	Downslanted palpebral fissures, Delayed eruption of teeth, Widely spaced teeth, Broad eyebrow, Su...	OMIM:235730
Autosomal Recessive Ataxia Due To Pex10 Deficiency	Abnormal circulating phytanic acid concentration, Mydriasis	ORPHA:247815
Cardioacrofacial Dysplasia 1	Conical tooth, Genu valgum, Short philtrum, Diastema, Hypoplasia of the maxilla, Accessory oral f...	OMIM:619142
Dyskeratosis Congenita, Autosomal Recessive 1	Microdontia, Pterygium, Pancytopenia, Hyperpigmentation of the skin, Carious teeth, Oral leukopla...	OMIM:224230
Hypophosphatasia, Adult	Increased susceptibility to fractures, Recurrent fractures, Osteomalacia, Arthropathy, Premature ...	OMIM:146300
Weill-Marchesani Syndrome 4	Phakodonesis, Posterior synechiae of the anterior chamber, Ectopia lentis, Shallow anterior chamb...	OMIM:613195
Rubinstein-Taybi Syndrome 1	Delayed cranial suture closure, Flexion contracture, Patellar dislocation, Coloboma, Epicanthus, ...	OMIM:180849
Calvarial Doughnut Lesions With Bone Fragility	Recurrent fractures, Osteopenia, Scoliosis, Platyspondyly, Carious teeth, Osteoporosis	OMIM:126550
Thrombocytopenia-Absent Radius Syndrome	Genu varum, Anemia, Patellar dislocation, Patellar aplasia, Micrognathia, Fused cervical vertebra...	OMIM:274000
Cardiospondylocarpofacial Syndrome	Fusion of middle ear ossicles, Long philtrum, Wide mouth, Epicanthus, Fused cervical vertebrae, C...	OMIM:157800
Craniofacial Microsomia	Transverse facial cleft, Cleft upper lip, Genu valgum, Vertebral hypoplasia, Wide mouth, Block ve...	OMIM:164210
Retinoblastoma	Vitreous hemorrhage, Leukocoria, Subretinal pigment epithelium hemorrhage, Abnormality of retinal...	ORPHA:790
Mayer-Rokitansky-Küster-Hauser Syndrome	Vertebral segmentation defect, Vertebral fusion, Abnormal form of the vertebral bodies, Abnormal ...	ORPHA:3109
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Abnormality of upper lip vermillion, Coloboma, Micrognathia, Microdontia, Short neck, Cleft palat...	ORPHA:251028
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Coloboma, Wide mouth, Macroglossia, Everted lower lip vermilion, Short neck, Recurrent infections...	OMIM:616789
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Mandibular prognathia, Reduced alpha/beta synthesis ratio, Epicanthus, Thick lower lip vermilion,...	OMIM:301040
Joubert Syndrome 14	Downslanted palpebral fissures, Coloboma, Optic atrophy, Epicanthus, Short philtrum, Intracranial...	OMIM:614424
Beta-Thalassemia Intermedia	Pulmonary arterial hypertension, Increased susceptibility to fractures, Splenomegaly, Abnormality...	ORPHA:231222
Tangier Disease	Anemia, Hepatosplenomegaly, Corneal opacity, Ectropion, Hypocholesterolemia, Thrombocytopenia, Hy...	ORPHA:31150
Achalasia-Addisonianism-Alacrima Syndrome	Anisocoria, Orthostatic hypotension, Hyperpigmentation of the skin	OMIM:231550
Pituitary Apoplexy	Hypotension, Mydriasis, Hypertension, Ptosis, Hyponatremia, Normochromic anemia	ORPHA:95613
Neurofaciodigitorenal Syndrome	Downslanted palpebral fissures, Abnormality of the philtrum, Mandibular prognathia, Abnormality o...	ORPHA:2673
Neurocardiofaciodigital Syndrome	Retrognathia, Sparse eyebrow, High palate, Small for gestational age, Narrow palpebral fissure, F...	OMIM:619869
Cleidocranial Dysplasia 2	Genu valgum, Delayed eruption of primary teeth, Delayed ossification of carpal bones, Supernumera...	OMIM:620099
Aortic Arch Anomaly-Facial Dysmorphism-Intellectual Disability Syndrome	Genu varum, Downslanted palpebral fissures, Mandibular prognathia, Downturned corners of mouth, N...	ORPHA:1110
Delta-Beta-Thalassemia	Anemia, Abnormal hemoglobin, Microcytic anemia	ORPHA:231237
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Anemia, Irregular hyperpigmentation, Decreased body weight, Corneal erosion, Flexion contracture,...	ORPHA:89842
Bone Marrow Failure Syndrome 6	Anemia, Recurrent sinusitis, Lymphopenia, Squamous cell carcinoma of the tongue, Persistence of h...	OMIM:618849
Thakker-Donnai Syndrome	Long palpebral fissure, Downturned corners of mouth, Narrow mouth, Short neck, Upslanted palpebra...	ORPHA:1780
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Enamel hypomineralization, Carious teeth, Amelogenesis imperfecta, Anterior open-bite malocclusio...	OMIM:204700
Congenital Erythropoietic Porphyria	Unconjugated hyperbilirubinemia, Reticulocytosis, Osteolysis, Thrombocytopenia, Corneal ulceratio...	ORPHA:79277
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Multiple joint contractures, Micrognathia, Microdontia, Atlantoaxial dislocation, Congenital kyph...	ORPHA:536467
Antley-Bixler Syndrome	Delayed cranial suture closure, Camptodactyly of finger, Downslanted palpebral fissures, Long phi...	ORPHA:83
Frontometaphyseal Dysplasia 2	Downslanted palpebral fissures, Pierre-Robin sequence, High palate, Deep philtrum, Hip contractur...	OMIM:617137
Stapes Ankylosis With Broad Thumbs And Toes	Fused cervical vertebrae, Proximal/middle symphalangism of 5th finger	OMIM:184460
Familial Osteodysplasia, Anderson Type	Increased susceptibility to fractures, Mandibular prognathia, Recurrent fractures, Kyphosis, Hype...	ORPHA:2769
Neonatal Marfan Syndrome	Downslanted palpebral fissures, Megalocornea, Flexion contracture, Heart murmur, Small for gestat...	ORPHA:284979
Tyrosinemia Type 2	Malar flattening, Corneal opacity	ORPHA:28378
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Genu valgum, Synophrys, Thin upper lip vermilion, Hypoplasia of the zygomatic bone, Joint stiffne...	ORPHA:1295
Congenital Disorder Of Glycosylation, Type Iq	Coloboma, Optic atrophy, Failure to thrive, Cataract, Microphthalmia	OMIM:612379
Apolipoprotein A-I Deficiency	Abnormal circulating lipid concentration, Angina pectoris, Decreased HDL cholesterol concentratio...	ORPHA:425
Zttk Syndrome	Flexion contracture, Optic atrophy, Epicanthus, Broad eyebrow, Bifid uvula, Narrow mouth, Hemiver...	OMIM:617140
Cardiofaciocutaneous Syndrome	Downslanted palpebral fissures, Genu valgum, Aplasia/Hypoplasia of the eyebrow, High palate, Long...	ORPHA:1340
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Atelosteogenesis, Type I	Vertebral hypoplasia, Fused cervical vertebrae, Micrognathia, Elbow dislocation, Knee dislocation...	OMIM:108720
Dyrk1A-Related Intellectual Disability Syndrome	Abnormality of the cervical spine, Multiple joint contractures, Kyphosis, Small for gestational a...	ORPHA:464306
Hepatoerythropoietic Porphyria	Abnormal circulating porphyrin concentration, Splenomegaly, Hypopigmentation of the skin, Hemolyt...	ORPHA:95159
Renpenning Syndrome 1	Mandibular prognathia, High palate, Sparse lateral eyebrow, Joint contracture of the hand, Epican...	OMIM:309500
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Retrognathia, Optic nerve hypoplasia, Retinal dysplasia, Cataract, Peters anomaly, Remnants of th...	OMIM:614643
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Conjunctival whitish salt-like deposits, Enamel hypoplasia, Hyperphosphatemia, Calcinosis, Pulp c...	OMIM:211900
Cerebrofacioarticular Syndrome	Irregular dentition, Epicanthus, Blepharophimosis, Micrognathia, Caudal appendage, Camptodactyly,...	ORPHA:314679
Autosomal Dominant Kenny-Caffey Syndrome	Delayed cranial suture closure, Anemia, Hypocalcemic tetany, Hyperphosphatemia, Calvarial osteosc...	ORPHA:93325
Alpha-Thalassemia	Anemia, Hemolytic anemia, Hypersplenism, Abnormal hemoglobin, Splenomegaly, Microcytic anemia	ORPHA:846
Autosomal Dominant Cutis Laxa	Delayed cranial suture closure, Hip dislocation, Joint laxity, Developmental cataract, Congestive...	ORPHA:90348
Hereditary Methemoglobinemia	Small for gestational age, Methemoglobinemia, Lip discoloration	ORPHA:621
Congenital Disorder Of Deglycosylation 1	Hyperalaninemia, Decreased body weight, Elevated circulating alpha-fetoprotein concentration, Pto...	OMIM:615273
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Downslanted palpebral fissures, Upslanted palpebral fissure, High palate, Coloboma, Optic atrophy...	OMIM:616975
Wiedemann-Rautenstrauch Syndrome	Camptodactyly of finger, Lagophthalmos, Optic atrophy, Synophrys, Hypoplastic vertebral bodies, S...	ORPHA:3455
Insensitivity To Pain, Congenital, With Anhidrosis	Neuropathic arthropathy, Osteomyelitis, Corneal scarring, Keratitis, Opacification of the corneal...	OMIM:256800
Visual Impairment And Progressive Phthisis Bulbi	Ptosis, Flat cornea, Phthisis bulbi	OMIM:618283
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 4	Mydriasis	OMIM:619365
Alternating Hemiplegia Of Childhood	Abnormal T-wave, Mydriasis, Thin eyebrow, Failure to thrive, Downturned corners of mouth, Cardiac...	ORPHA:2131
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Long philtrum, Optic atrophy, Epicanthus, Short neck, Delayed skeletal maturation, Hypoplasia of ...	OMIM:614800
Meier-Gorlin Syndrome 4	Patellar aplasia, Thick lower lip vermilion, Micrognathia, Hypoplasia of the maxilla, Failure to ...	OMIM:613804
X-Linked Mandibulofacial Dysostosis	Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, High palate, Epicanthus, Micro...	ORPHA:1131
Cyanosis, Transient Neonatal	Methemoglobinemia, Anemia, Reticulocytosis	OMIM:613977
Yunis-Varon Syndrome	Micrognathia, Hip dislocation, Absent sternal ossification, Sparse eyelashes, Glossoptosis, Short...	ORPHA:3472
Meier-Gorlin Syndrome 3	Downslanted palpebral fissures, Genu varum, Patellar hypoplasia, Patellar aplasia, Micrognathia, ...	OMIM:613803
Treacher Collins Syndrome 2	Retrognathia, Fusion of middle ear ossicles, Downslanted palpebral fissures, Micrognathia, Micror...	OMIM:613717
Lowe Oculocerebrorenal Syndrome	Wrist swelling, Camptodactyly of finger, Elevated maternal serum alpha-fetoprotein, Dense posteri...	OMIM:309000
Cleft Velum	Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate, Recurrent otitis media	ORPHA:99772
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Cleft upper lip, Coloboma, Bilateral cleft lip, Bilateral cleft palate, Scoliosis	OMIM:601357
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Lacrimal duct stenosis, Sparse eyebrow, Cleft upper lip, Dacryocystitis, Hypoplastic sacrum, Gene...	OMIM:604292
Arachnoid Cyst	Back pain, Mydriasis, Lower limb pain, Ptosis, Subarachnoid hemorrhage, Sciatica	ORPHA:2356
Botulism	Mydriasis, Arrhythmia	ORPHA:1267
Barber-Say Syndrome	Sparse eyebrow, Dental malocclusion, Mandibular prognathia, High palate, Epiblepharon, Wide mouth...	OMIM:209885
Holoprosencephaly 2	Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ...	OMIM:157170
Cockayne Syndrome A	Dental malocclusion, Enamel hypoplasia, Mandibular prognathia, Hip contracture, Delayed eruption ...	OMIM:216400
Skin Creases, Congenital Symmetric Circumferential, 2	Short palpebral fissure, Downslanted palpebral fissures, Upslanted palpebral fissure, Epicanthus,...	OMIM:616734
Phace Syndrome	Abnormality of the orbital region, Lens coloboma, Ptosis, Iris coloboma, Heterochromia iridis, Ca...	ORPHA:42775
Cystinosis, Adult Nonnephropathic	Corneal crystals	OMIM:219750
Lead Poisoning	Anemia, Abnormal T cell morphology, Delayed eruption of teeth, Small for gestational age, Hyperte...	ORPHA:330015
Peters Plus Syndrome	Optic atrophy, Micrognathia, Spina bifida occulta, Iris coloboma, Peters anomaly, Short neck, Cle...	ORPHA:709
Bickerstaff Brainstem Encephalitis	Anisocoria, Ptosis, Mydriasis	ORPHA:79138
Meier-Gorlin Syndrome 5	Long philtrum, Patellar aplasia, Micrognathia, Submucous cleft hard palate, Elbow dislocation, Hy...	OMIM:613805
Singleton-Merten Syndrome 1	Osteolytic defects of the phalanges of the hand, Hip subluxation, Decreased body weight, Hip disl...	OMIM:182250
Linear Skin Defects With Multiple Congenital Anomalies 1	Histiocytoid cardiomyopathy, Iris coloboma, Peters anomaly, Cataract, Junctional ectopic tachycar...	OMIM:309801
Cutis Gyrata-Acanthosis Nigricans-Craniosynostosis Syndrome	Downslanted palpebral fissures, Narrow palate, Optic atrophy, Hypertension, Ptosis, Narrow mouth,...	ORPHA:1555
Peters-Plus Syndrome	Decreased body weight, Short lingual frenulum, Micrognathia, Iris coloboma, Peters anomaly, Short...	OMIM:261540
Toluene Embryopathy	Short palpebral fissure, Epicanthus, Micrognathia, Smooth philtrum, Hypoplasia of the zygomatic b...	ORPHA:1920
Hereditary Persistence Of Fetal Hemoglobin-Sickle Cell Disease Syndrome	Asplenia, Splenomegaly, HbS hemoglobin, Reticulocytosis, Persistence of hemoglobin F, Hypochromic...	ORPHA:251380
Bosma Arhinia Microphthalmia Syndrome	Paranasal sinus hypoplasia, Dental malocclusion, High palate, Coloboma, Synophrys, Cataract, Micr...	OMIM:603457
Alpha-Thalassemia-Myelodysplastic Syndrome	Neutropenia, HbH hemoglobin, Thrombocytopenia, Acute leukemia, Splenomegaly, Microcytic anemia	ORPHA:231401
Prolidase Deficiency	Genu valgum, Micrognathia, Abnormality of retinal pigmentation, Hypoplasia of the zygomatic bone,...	ORPHA:742
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Sacral dimple, Downslanted palpebral fissures, Mandibular prognathia, Epicanthus, Short philtrum,...	OMIM:613603
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Retrognathia, Downslanted palpebral fissures, B lymphocytopenia, Epicanthus, Blepharophimosis, Mi...	ORPHA:83617
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Sparse eyebrow, Cleft upper lip, Dacryocystitis, Generalized hypopigmentation, Selective tooth ag...	OMIM:129900
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Anemia, Flexion contracture, Epicanthus, Thick lower lip vermilion, Macroglossia, Everted lower l...	ORPHA:847
Galactosialidosis	Opacification of the corneal stroma, Conjunctival telangiectasia, Hepatosplenomegaly	OMIM:256540
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Retrognathia, Downslanted palpebral fissures, Aplasia/Hypoplasia of the eyebrow, Abnormal eyelid ...	ORPHA:1812
Primrose Syndrome	Flexion contracture, Epicanthus, Synophrys, Torus palatinus, Elevated circulating alpha-fetoprote...	OMIM:259050
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Bifid tongue, Coloboma, Exaggerated median tongue furrow, Bifid uvula, Optic nerve hypoplasia, To...	ORPHA:352665
Roberts-Sc Phocomelia Syndrome	Knee flexion contracture, Wrist flexion contracture, Cleft upper lip, Downslanted palpebral fissu...	OMIM:268300
Arnold-Chiari Malformation Type I	Stiff neck, Fused cervical vertebrae, Anteriorly placed odontoid process, Scoliosis, Cervical C2/...	ORPHA:268882
Wilson Disease	Anemia, Chondrocalcinosis, Hemolytic anemia, Osteomalacia, Decreased circulating ceruloplasmin co...	OMIM:277900
Acrocallosal Syndrome	Everted upper lip vermilion, Optic atrophy, Epicanthus, Coloboma, Bifid uvula, Abnormal oral fren...	OMIM:200990
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Megalocornea, Hypoplasia of the retina, Coloboma, Optic atrophy, Retinal atrophy, Micrognathia, R...	OMIM:253280
Cocaine Intoxication	Hypotension, Ischemic stroke, Mydriasis, Hypovolemia, Cerebral hemorrhage, Ventricular arrhythmia...	ORPHA:90068
Superficial Siderosis	Anisocoria, Back pain, Subarachnoid hemorrhage, Internal hemorrhage	ORPHA:247245
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Pulmonary arterial hypertension, Anemia, Spontaneous, recurrent epistaxis, Cachexia, Pancytopenia...	ORPHA:2072
Bohring-Opitz Syndrome	Retrognathia, Joint dislocation, Coloboma, Optic atrophy, Ulnar deviation of the wrist, Micrognat...	ORPHA:97297
Serotonin Syndrome	Hypotension, Tachycardia, Hypertension, Mydriasis	ORPHA:43116
Fraser Syndrome 1	Difficulty in tongue movements, Cleft upper lip, Cryptophthalmos, Dental malocclusion, Absent eye...	OMIM:219000
Hb Bart'S Hydrops Fetalis	Anemia, Congestive heart failure, Pericarditis, Abnormal hemoglobin, Splenomegaly	ORPHA:163596
Orofaciodigital Syndrome Type 1	Lip pit, Epicanthus, Micrognathia, Median cleft lip, Odontogenic neoplasm, Cleft palate, Telecant...	ORPHA:2750
Cockayne Syndrome	Abnormal number of teeth, Optic atrophy, Retinal atrophy, Keratoconjunctivitis sicca, Cachexia, B...	ORPHA:191
Aortic Aneurysm, Familial Thoracic 6	Iris flocculi	OMIM:611788
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	High palate, Coloboma, Vertebral segmentation defect, Oligodontia, Bifid uvula, Macroglossia, Pro...	ORPHA:453499
Saethre-Chotzen Syndrome	Delayed cranial suture closure, Abnormal nasolacrimal system morphology, Narrow palate, Coronal c...	OMIM:101400
Scorpion Envenomation	Mydriasis, T-wave inversion, Cardiogenic shock, Prominent U wave, Bundle branch block, ST segment...	ORPHA:466677
Greenberg Dysplasia	Retrognathia, Absent or minimally ossified vertebral bodies, Horizontal sacrum, Recurrent fractur...	OMIM:215140
Limb Body Wall Complex	Progressive congenital scoliosis, Spina bifida occulta, Lens subluxation, Iris coloboma, Abnormal...	ORPHA:2369
Camurati-Engelmann Disease	Anemia, Mandibular prognathia, Genu valgum, Lower limb pain, Increased bone mineral density, Cort...	OMIM:131300
Shwachman-Diamond Syndrome 1	Acute myeloid leukemia, Anemia, Irregular ossification at anterior rib ends, Small for gestationa...	OMIM:260400
Meckel Syndrome	Asplenia, Aplasia/Hypoplasia of the tongue, Aplasia/Hypoplasia of the iris, Micrognathia, Abnorma...	ORPHA:564
Ear-Patella-Short Stature Syndrome	Retrognathia, Camptodactyly of finger, Mandibular aplasia, Patellar aplasia, Craniosynostosis, Mi...	ORPHA:2554
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets, Retinal pigment epithelial mottling, Corneal crystals	OMIM:219900
Digeorge Syndrome	Short palpebral fissure, High palate, Posterior embryotoxon, Patellar dislocation, Blepharophimos...	OMIM:188400
Retinoblastoma	Leukocoria, Cleft palate, Vitreous hemorrhage, Leukemia	OMIM:180200
Familial Thoracic Aortic Aneurysm And Aortic Dissection	Retrognathia, Ischemic stroke, Hypovolemia, Transient ischemic attack, Hypertension, Aortic regur...	ORPHA:91387
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Conical tooth, Sparse eyebrow, Everted upper lip vermilion, Absent eyelashes, Microdontia, Hypodo...	OMIM:305100
Craniofacial-Deafness-Hand Syndrome	Hypoplasia of the maxilla, Downslanted palpebral fissures, Malar flattening, Telecanthus	OMIM:122880
Charge Syndrome	Cleft upper lip, Optic atrophy, Delayed eruption of teeth, Epicanthus, Abnormal soft palate morph...	ORPHA:138
Autoimmune Polyendocrinopathy Type 1	Cataract, Opacification of the corneal stroma, Hypopigmented skin patches	ORPHA:3453
Late-Onset Retinal Degeneration	Abnormal anterior eye segment morphology, Abnormal suspensory ligament of lens morphology, Iris t...	ORPHA:67042
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Ischemic stroke, Optic atrophy, Epicanthus, Bifid uvula, Optic nerve hypoplasia, Submucous cleft ...	ORPHA:500150
Infantile Nephropathic Cystinosis	Hypophosphatemia, Hypokalemia, Corneal crystals, Abnormal blood ion concentration, Rickets, Failu...	ORPHA:411629
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Flexion contracture, Epicanthus, Micrognathia, Epiphyseal stippling, Camptodactyly, Hypertrophic ...	ORPHA:96334
Kindler Syndrome	Gingivitis, Corneal erosion, Periodontitis, Spotty hypopigmentation, Symblepharon, Spotty hyperpi...	OMIM:173650
Tubulointerstitial Nephritis And Uveitis Syndrome	Vitreous hemorrhage, Reduced hematocrit, Weight loss, Anterior chamber flare, Posterior synechiae...	ORPHA:91500
Fryns Syndrome	Cleft upper lip, Long philtrum, Wide mouth, Joint contracture of the hand, Blepharophimosis, Poly...	OMIM:229850
Collagenoma, Familial Cutaneous	Cardiomyopathy, Right ventricular cardiomyopathy, Tricuspid regurgitation, Congestive heart failu...	OMIM:115250
Alpha-Thalassemia Myelodysplasia Syndrome	Hypochromic microcytic anemia, HbH hemoglobin, Reduced alpha/beta synthesis ratio	OMIM:300448
Microphthalmia, Syndromic 6	Retrognathia, High palate, Coloboma, Micrognathia, Bifid uvula, Microcornea, Failure to thrive, M...	OMIM:607932
Intellectual Disability-Short Stature-Hypertelorism Syndrome	Hypoplasia of the zygomatic bone, Long philtrum	ORPHA:3074
Holoprosencephaly 7	Hypoplasia of the premaxilla, Bilateral cleft lip, Synophrys, Median cleft lip and palate, Median...	OMIM:610828
Distal Monosomy 19P13.3	Short philtrum, Hypoplasia of the maxilla, Joint hyperflexibility, Cleft palate, Thick eyebrow	ORPHA:96129
Holoprosencephaly 9	Dental malocclusion, Agenesis of incisor, Cleft upper lip, Hypoplasia of the premaxilla, Short ph...	OMIM:610829
Classical Ehlers-Danlos Syndrome	Shoulder dislocation, Patellar dislocation, Epicanthus, Pulp calcification, Hip dislocation, Disl...	ORPHA:287
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Hypoplasia of the zygomatic bone, Malar flattening	ORPHA:2835
Proteasome-Associated Autoinflammatory Syndrome 1	Camptodactyly of finger, Flexion contracture, Premature graying of hair, Elbow flexion contractur...	OMIM:256040
Juvenile Glaucoma	Abnormal anterior chamber morphology, Abnormality iris morphology	ORPHA:98977
Primary Familial Polycythemia	Epistaxis, Abnormal hemoglobin, Polycythemia	ORPHA:90042
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Patellar dislocation, Coloboma, Delayed skeletal maturation, Talon cusp, Narrow palate, Avascular...	ORPHA:353281
Cree Mental Retardation Syndrome	Downslanted palpebral fissures, Coloboma, Cleft soft palate, Micrognathia, Ptosis	OMIM:606851
Dyskeratosis Congenita, X-Linked	Conjunctivitis, Acute myeloid leukemia, Leukopenia, Anemia, Premature graying of hair, Pterygium,...	OMIM:305000
Floating-Harbor Syndrome	Avascular necrosis of the capital femoral epiphysis, Wide mouth, Small for gestational age, Micro...	ORPHA:2044
Multisystemic Smooth Muscle Dysfunction Syndrome	Pulmonary arterial hypertension, Hypertension, Mydriasis	OMIM:613834
Cornelia De Lange Syndrome	Delayed eruption of teeth, Synophrys, Micrognathia, Hip dislocation, Elbow dislocation, Short nec...	ORPHA:199
Solitary Median Maxillary Central Incisor	Cleft upper lip, Coloboma, Prominent median palatal raphe, Torus palatinus, Solitary median maxil...	OMIM:147250
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Patellar dislocation, Coloboma, Micrognathia, Talon cusp, Narrow palate, Avascular necrosis of th...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Patellar dislocation, Coloboma, Micrognathia, Talon cusp, Narrow palate, Avascular necrosis of th...	ORPHA:353277
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Decreased body weight, Coloboma, Synophrys, Broad eyebrow, Iris coloboma, Juvenile cataract, Smoo...	OMIM:619475
Craniosynostosis And Dental Anomalies	Dental malocclusion, Sagittal craniosynostosis, Mandibular prognathia, Narrow palate, High palate...	OMIM:614188
Yunis-Varon Syndrome	Epicanthus, Micrognathia, Hypoplastic facial bones, Hip dislocation, Absent sternal ossification,...	OMIM:216340
Lacrimoauriculodentodigital Syndrome 1	Hypoplastic lacrimal duct, Microdontia, Conical incisor, Recurrent corneal erosions, Telecanthus,...	OMIM:149730
X-Linked Intellectual Disability-Limb Spasticity-Retinal Dystrophy-Diabetes Insipidus Syndrome	HbH hemoglobin, Severe failure to thrive, Elevated amniotic fluid alpha-fetoprotein	ORPHA:423479
Cutis Laxa, Autosomal Recessive, Type Ib	Downslanted palpebral fissures, High palate, Pulmonary insufficiency, Micrognathia, Prominence of...	OMIM:614437
Diamond-Blackfan Anemia 3	Reticulocytopenia, Persistence of hemoglobin F, Macrocytic anemia, Increased mean corpuscular vol...	OMIM:610629
Acquired Methemoglobinemia	Syncope, Palpitations, Arrhythmia, Methemoglobinemia, Tachycardia	ORPHA:464453
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals	OMIM:210370
Plague	Hypotension, Splenomegaly, Abnormality of the elbow, Mydriasis, Arthritis, Glossitis, Chapped lip...	ORPHA:707
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Mandibular prognathia, Eunuchoid habitus	ORPHA:3044
Heterotaxy, Visceral, 1, X-Linked	Absence of the sacrum, Mitral stenosis, Block vertebrae, Congenital hip dislocation, Failure to t...	OMIM:306955
Thymoma	Weight loss, Leukemia, Rheumatoid arthritis, Imbalanced hemoglobin synthesis, Aplastic anemia, Pu...	ORPHA:99867
Cystinosis, Nephropathic	Pigmentary retinopathy, Reduced blood urea nitrogen, Hypopigmentation of the skin, Genu valgum, W...	OMIM:219800
Acromelic Frontonasal Dysostosis	Downslanted palpebral fissures, Cleft upper lip, Patellar hypoplasia, Optic nerve hypoplasia, Pto...	OMIM:603671
Juvenile Nephropathic Cystinosis	Hypocalcemic tetany, Hypovolemia, Hypophosphatemia, Hypokalemia, Corneal crystals, Failure to thr...	ORPHA:411634
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome 2	Elevated pulmonary artery pressure, Bidirectional shunt, Mydriasis	OMIM:619351
Multiple System Atrophy 1, Susceptibility To	Orthostatic hypotension, Ptosis, Iris atrophy	OMIM:146500
Spondyloepimetaphyseal Dysplasia, X-Linked	Genu varum, Anterior wedging of T11, Kyphosis, Hypoplasia of the odontoid process, Flat acetabula...	OMIM:300106
Reese Retinal Dysplasia	Retinal dysplasia, Remnants of the hyaloid vascular system	OMIM:266400
Fanconi Anemia, Complementation Group C	Prolonged G2 phase of cell cycle, Intrauterine growth retardation	OMIM:227645
Proximal Renal Tubular Acidosis	Enamel hypomineralization, Coloboma, Hypovolemia, Failure to thrive, Cataract, Band keratopathy, ...	ORPHA:47159
Generalized Arterial Calcification Of Infancy	Pulmonary arterial hypertension, Retinal hemorrhage, Abnormality of the knee, Osteomalacia, Trans...	ORPHA:51608
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, High palate, Hypodontia, Micrognathia, Narrow mouth, Hypoplasia...	ORPHA:989
Fanconi Anemia, Complementation Group D2	Patent ductus arteriosus, Prolonged G2 phase of cell cycle	OMIM:227646
Gaucher Disease, Type Iiic	Mitral stenosis, Opacification of the corneal stroma, Splenomegaly, Pancytopenia	OMIM:231005
Methemoglobinemia Due To Deficiency Of Methemoglobin Reductase	Methemoglobinemia, Polycythemia	OMIM:250800
Alpha-N-Acetylgalactosaminidase Deficiency Type 2	Telangiectasia of the oral mucosa, Lip telangiectasia, Telangiectasia of the skin, Opacification ...	ORPHA:79280
Fanconi Anemia, Complementation Group E	Prolonged G2 phase of cell cycle	OMIM:600901
Fanconi Anemia, Complementation Group A	Prolonged G2 phase of cell cycle	OMIM:227650
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome	Dislocated radial head, Micrognathia, Mandibular condyle hypoplasia, Hypoplasia of the premaxilla	ORPHA:2975
Alpha-Thalassemia	Hypochromic microcytic anemia, Reduced alpha/beta synthesis ratio	OMIM:604131
Beta-Thalassemia	Hypochromic microcytic anemia, Reduced beta/alpha synthesis ratio	OMIM:613985
Charge Syndrome	Downslanted palpebral fissures, Cleft upper lip, Coloboma, Retinal coloboma, Micrognathia, Unilat...	OMIM:214800
Ablepharon-Macrostomia Syndrome	Short upper lip, Cryptophthalmos, Wide mouth, Absent eyelashes, Camptodactyly, Ablepharon, Absent...	OMIM:200110
Optic Nerve Hypoplasia, Bilateral	Remnants of the hyaloid vascular system, Optic nerve aplasia, Optic nerve hypoplasia	OMIM:165550
Full Nf2-Related Schwannomatosis	Posterior subcapsular cataract, Retinal hamartoma, Remnants of the hyaloid vascular system, Corti...	ORPHA:637
Methemoglobinemia And Ambiguous Genitalia	Methemoglobinemia	OMIM:250790
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	High palate, Long philtrum, Epicanthus, Small for gestational age, Hypoplasia of the zygomatic bone	OMIM:618500
Pancreatic Agenesis-Holoprosencephaly Syndrome	Hypoplasia of the zygomatic bone, Solitary median maxillary central incisor, Small for gestationa...	ORPHA:556955
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Opacification of the corneal stroma, Elevated circulating creatine kinase concentration	OMIM:615287

Histopathology

Summary table of phenotypes displayed during the Histopathology procedure which are considered significant. Full histopathology data table, including submitted images, can be accessed by clicking any row in this table.

There is no histopathology data for Kat14

This gene doesn't have any significant Histopathology hits. Please click here to see the raw data.

IMPC related publications

The table below lists publications which used either products generated by the IMPC or data produced by the phenotyping efforts of the IMPC. These publications have also been associated to Kat14.

There are 2 publications which use IMPC produced mice or data.

Title	Journal	IMPC Allele	PubMed ID
Association of a Chromosomal Rearrangement Event with Mouse Posterior Polymorphous Corneal Dystrophy and Alterations in Csrp2bp, Dzank1, and Ovol2 Gene Expression.	PloS one (June 2016)	Kat14^{tm1a(KOMP)Wtsi} Kat14^{tm1d(KOMP)Wtsi}	PMC4910986
The PPCD1 mouse: characterization of a mouse model for posterior polymorphous corneal dystrophy and identification of a candidate gene.	PloS one (August 2010)	Kat14^{tm1a(KOMP)Wtsi}	PMC2922377

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MGI Allele	Allele Type	Produced
Kat14^{tm285808(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Kat14^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Mice, Targeting vectors, ES Cells
Kat14^{tm35277(L1L2_Bact_P)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors

Sequence

Guides

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

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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