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Gene: Kat14 MGI:1917264

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Gene Summary

Name:
lysine acetyltransferase 14
Synonyms:
ATAC2,  2510008M08Rik,  Csrp2bp,  D2Ertd473e,  D2Wsu131e

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IMPC Data Collections

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 System Allele Zyg Sex Life Stage P Value
decreased hematocrit Kat14tm1a(KOMP)Wtsi HOM Early adult 6.60×10-05
abnormal cranium morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 4.34×10-06
abnormal eye morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 1.46×10-05
increased circulating potassium level Kat14tm1a(KOMP)Wtsi HOM Early adult 7.62×10-06
decreased body weight Kat14tm1a(KOMP)Wtsi HOM Early adult 7.81×10-07
corneal vascularization Kat14tm1a(KOMP)Wtsi HOM Early adult 3.52×10-05
corneal opacity Kat14tm1a(KOMP)Wtsi HOM Early adult 3.20×10-06
increased circulating magnesium level Kat14tm1a(KOMP)Wtsi HOM Early adult 7.84×10-06
decreased body length Kat14tm1a(KOMP)Wtsi HOM Early adult 2.30×10-08
preweaning lethality, incomplete penetrance Kat14tm1a(KOMP)Wtsi HOM   Early adult 0.00
abnormal eyelid aperture Kat14tm1a(KOMP)Wtsi HOM Early adult 2.58×10-11
abnormal cornea morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 4.17×10-08
abnormal maxilla morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 2.54×10-05
abnormal pupil morphology Kat14tm1a(KOMP)Wtsi HOM   Early adult 3.04×10-07
abnormal iris morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 7.18×10-06
decreased bone mineral content Kat14tm1a(KOMP)Wtsi HOM   Early adult 2.83×10-05
decreased lean body mass Kat14tm1a(KOMP)Wtsi HOM Early adult 7.13×10-05
abnormal tooth morphology Kat14tm1a(KOMP)Wtsi HOM Early adult 8.62×10-05
vertebral fusion Kat14tm1a(KOMP)Wtsi HOM   Early adult 1.54×10-05
abnormal eye size Kat14tm1a(KOMP)Wtsi HOM Early adult 1.78×10-10
decreased hemoglobin content Kat14tm1a(KOMP)Wtsi HOM Early adult 3.48×10-06
abnormal eye pigmentation Kat14tm1a(KOMP)Wtsi HOM Early adult 5.90×10-06
eyelids fail to open Kat14tm1a(KOMP)Wtsi HOM Early adult 5.09×10-11
increased circulating creatine kinase level Kat14tm1a(KOMP)Wtsi HOM Early adult 4.63×10-09

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 0.0%
aorta 0.0%
blood vessel
bone 0.0%
brain 0.0%
brainstem 0.0%
brown adipose tissue 0.0%
cartilage tissue 0.0%
cerebellum 0.0%
cerebral cortex 0.0%
eye 0.0%
gall bladder 0.0%
heart 0.0%
hippocampus 0.0%
hypothalamus 0.0%
kidney 0.0%
large intestine 0.0%
liver 0.0%
lower urinary tract 0.0%
lung 0.0%
lymph node 0.0%
mammary gland 0.0%
oesophagus
olfactory lobe 0.0%
ovary 0.0%
oviduct 0.0%
pancreas 0.0%
parathyroid gland 0.0%
peripheral nervous system 0.0%
peyer's patch
pituitary gland 0.0%
prostate gland 0.0%
skeletal muscle tissue
skin 0.0%
small intestine 0.0%
spinal cord 0.0%
spleen 0.0%
stomach 0.0%
striatum 0.0%
testis 0.0%
thymus 0.0%
thyroid gland 0.0%
trachea 0.0%
uterus 0.0%
white adipose tissue 0.0%
No Embryo expression data was found for this gene.

Associated Images

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

Phenotype associated images not available

Human diseases caused by Kat14 mutations

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

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

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

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

Disease Similarity of
phenotypes		 Matching phenotypes Source
Corneal Dystrophy, Posterior Polymorphous, 2
Corneal dystrophy, Corneal opacity OMIM:609140
Corneal Dystrophy, Endothelial, X-Linked
Band keratopathy, Corneal dystrophy, Corneal opacity OMIM:300779
Dermoids Of Cornea
Corneal opacity OMIM:304730
Corneal Dystrophy, Band-Shaped
Band-shaped corneal dystrophy OMIM:217500
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
Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy ORPHA:1377
Glaucoma 3, Primary Congenital, D
Primary congenital glaucoma, Ectopia lentis, Corneal opacity OMIM:613086
Keratitis, Hereditary
Opacification of the corneal stroma, Keratitis OMIM:148190
Corneal Dystrophy-Perceptive Deafness Syndrome
Corneal dystrophy, Corneal opacity ORPHA:1490
Corneal Dystrophy, Groenouw Type I
Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy OMIM:121900
Cornea Plana 1, Autosomal Dominant
Flat cornea OMIM:121400
Corneal Dystrophy, Epithelial Basement Membrane
Recurrent corneal erosions, Map-dot-fingerprint corneal dystrophy, Corneal dystrophy OMIM:121820
Galactosialidosis
Abnormal vertebral morphology, Abnormality of the vertebral column, Corneal opacity ORPHA:351
Winchester Syndrome
Carpal osteolysis, Gingival overgrowth, Osteolysis involving tarsal bones, Arthropathy, Corneal o... OMIM:277950
Corneal Dystrophy, Fuchs Endothelial, 3
Corneal guttata, Corneal stromal edema, Corneal opacity OMIM:613267
Autosomal Dominant Keratitis
Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A... ORPHA:2334
Morquio Syndrome C
Corneal opacity OMIM:252300
Thiel-Behnke Corneal Dystrophy
Opacification of the corneal stroma, Astigmatism, Subepithelial corneal opacities, Recurrent corn... ORPHA:98960
Macrosomia-Microphthalmia-Cleft Palate Syndrome
Microcornea, Large for gestational age, Median cleft palate, Corneal opacity, Microphthalmia, Rec... ORPHA:2432
X-Linked Corneal Dermoid
Abnormal pupil morphology, Corneal opacity ORPHA:1661
Macular Dystrophy, Corneal
Recurrent corneal erosions, Punctate opacification of the cornea, Corneal dystrophy OMIM:217800
Brachyolmia Type 1, Hobaek Type
Platyspondyly, Osteopenia, Sclerotic foci of metaphyses of the elbow, Lumbar hypolordosis, Square... OMIM:271530
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
Lattice Corneal Dystrophy Type I
Abnormal cornea morphology, Corneal scarring, Astigmatism, Subepithelial corneal opacities, Recur... ORPHA:98964
Corneal Endothelial Dystrophy
Corneal dystrophy, Opacification of the corneal stroma, Abnormal Descemet membrane morphology, In... OMIM:217700
Familial Pterygium Of The Conjunctiva
Opacification of the corneal stroma ORPHA:2989
Keratoconus Posticus Circumscriptus
Keratoconus, Cleft upper lip, Recurrent urinary tract infections, Limited elbow extension and sup... OMIM:244600
Ring Dermoid Of Cornea
Abnormal cornea morphology, Abnormal corneal limbus morphology, Corneal astigmatism, Conjunctival... OMIM:180550
Cataract 21, Multiple Types
Iris coloboma, Microcornea, Peters anomaly, Cerulean cataract, Corneal opacity, Cortical pulverul... OMIM:610202
Anterior Segment Dysgenesis 8
Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro... OMIM:617319
Autoinflammation With Arthritis And Dyskeratosis
Failure to thrive, Polyarticular arthritis, Hypereosinophilia, Corneal neovascularization, Autoim... OMIM:617388
Pupillary Membrane, Persistence Of
Persistent pupillary membrane, Developmental cataract, Megalocornea OMIM:178900
Corneal Dystrophy And Perceptive Deafness
Opacification of the corneal stroma, Corneal dystrophy OMIM:217400
Alpha-Mannosidosis
Synostosis of joints, Cataract, Craniofacial hyperostosis, Narrow palate, Dental malocclusion, Ma... ORPHA:61
Aarskog-Scott Syndrome
Genu recurvatum, Abnormality of the dentition, Hypoplasia of the maxilla, Delayed eruption of tee... ORPHA:915
Limbal Stem Cell Deficiency
Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s... ORPHA:171673
Spinocerebellar Degeneration And Corneal Dystrophy
Corneal stromal edema, Opacification of the corneal stroma, Corneal dystrophy OMIM:271310
Cornea Plana 2, Autosomal Recessive
Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thickness OMIM:217300
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability
Optic atrophy, Cataract, Chorioretinal coloboma, Bilateral cleft palate, Posterior embryotoxon, P... ORPHA:1473
Oculodentodigital Dysplasia, Autosomal Recessive
Micrognathia, Narrow mouth, Sparse eyelashes, Epicanthus, Microphthalmia, Cataract, Microcornea, ... OMIM:257850
Short Syndrome
Abnormality of the dentition, Abnormal mandible morphology, Hypoplasia of the iris, Megalocornea,... ORPHA:3163
Corneal Dystrophy, Fuchs Endothelial, 1
Corneal guttata, Corneal degeneration, Descemet Membrane Folds, Corneal stromal edema, Corneal dy... OMIM:136800
2Q24 Microdeletion Syndrome
Cataract, Abnormality iris morphology, Failure to thrive, Camptodactyly of finger, Downslanted pa... ORPHA:1617
Mucolipidosis Type Iii
Craniofacial hyperostosis, Abnormal form of the vertebral bodies, Joint stiffness, Hyperlordosis,... ORPHA:577
Microphthalmia, Isolated 2
Opacification of the corneal stroma OMIM:610093
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome
Cataract, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, Hypopigmentation of hair, Pers... ORPHA:1067
Anterior Segment Dysgenesis 6
Posterior synechiae of the anterior chamber, Abnormal Descemet membrane morphology, Corneal neova... OMIM:617315
Mucous Membrane Pemphigoid
Corneal opacity ORPHA:46486
Microphthalmia/Coloboma 4
Microcornea, Coloboma, Orbital cyst, Microphthalmia OMIM:251505
Klippel-Feil Syndrome 3, Autosomal Dominant
Chorioretinal coloboma, Cervical C3/C4 vertebral fusion, Cervical C5/C6 vertebrae fusion, Thoraci... OMIM:613702
Corneal Dystrophy, Reis-Bucklers Type
Opacification of the corneal stroma, Corneal dystrophy, Corneal erosion, Corneal opacity OMIM:608470
X-Linked Endothelial Corneal Dystrophy
Nuclear cataract, Band keratopathy, Abnormal corneal endothelium morphology, Corneal opacity ORPHA:293621
Developmental And Speech Delay Due To Sox5 Deficiency
Optic atrophy, Narrow palate, Exaggerated median tongue furrow, Dental crowding, Hyperplasia of t... ORPHA:313892
Larsen-Like Osseous Dysplasia-Short Stature Syndrome
Abnormal form of the vertebral bodies, Narrow mouth, Reduced bone mineral density, Corneal opacit... ORPHA:2370
Anterior Segment Dysgenesis 7
Cataract, Microcornea, Anterior synechiae of the anterior chamber, Ocular anterior segment dysgen... OMIM:269400
Vernal Keratoconjunctivitis
Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovascularization, Con... ORPHA:70476
Gelatinous Drop-Like Corneal Dystrophy
Blepharospasm, Conjunctival amyloidosis, Corneal neovascularization, Subepithelial corneal opacit... ORPHA:98957
Kid Syndrome
Posterior blepharitis, Aplastic/hypoplastic lacrimal glands, Delayed pubic bone ossification, Lim... ORPHA:477
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Epicanthus, Ptosis, Iris cyst, Upslanted palpebral fissure OMIM:620086
Kbg Syndrome
Widely-spaced maxillary central incisors, Long philtrum, Delayed skeletal maturation, Persistent ... ORPHA:2332
Myopathy, Tubular Aggregate, 1
Flexion contracture, Abnormal pupil morphology, Joint contracture, Elevated circulating creatine ... OMIM:160565
Granular Corneal Dystrophy Type Ii
Corneal crystals, Subepithelial corneal opacities, Recurrent corneal erosions, Opacification of t... ORPHA:98963
Charcot-Marie-Tooth Disease Type 1B
Abnormal pupil morphology, Scoliosis, Elevated circulating creatine kinase concentration ORPHA:101082
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes
Cataract, Hematochezia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Cachexia, Hyperpigmentation of... OMIM:175500
Vertebral Fusion, Posterior Lumbosacral, With Blepharoptosis
Posterior fusion of lumbosacral vertebrae, Congenital ptosis OMIM:192800
Spondylocostal Dysostosis 1, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Kyphoscolio... OMIM:277300
Atopic Keratoconjunctivitis
Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Chemosis, Conju... ORPHA:163934
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1B
Flexion contracture, Short neck, Fused thoracic vertebrae, Antecubital pterygium, Tarsal synostos... OMIM:618469
Verheij Syndrome
Hip dislocation, Retrognathia, Long philtrum, Joint hypermobility, Thin upper lip vermilion, Shor... OMIM:615583
Harel-Yoon Syndrome
Optic atrophy, Mandibular prognathia, Hypertrophic cardiomyopathy, Micrognathia, Upslanted palpeb... OMIM:617183
Multicentric Carpotarsal Osteolysis Syndrome
Osteopenia, Hypoplasia of the maxilla, Ankle swelling, Wrist swelling, Carpal osteolysis, Metacar... OMIM:166300
Peters Anomaly
Peters anomaly, Thinning of Descemet membrane, Subcapsular cataract, Anterior synechiae of the an... ORPHA:708
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome
Mandibular prognathia, Abnormal form of the vertebral bodies, Elbow dislocation, Abnormal dental ... ORPHA:2916
Aniridia 1
Chorioretinal hypopigmentation, Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupilla... OMIM:106210
Ophthalmomandibulomelic Dysplasia
Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, Megalocornea, Tempor... ORPHA:2741
Corneal Dystrophy, Posterior Polymorphous, 1
Band keratopathy, Abnormal corneal endothelium morphology, Ectopia pupillae, Thinning of Descemet... OMIM:122000
Palmoplantar Carcinoma, Multiple Self-Healing
Long philtrum, Corneal neovascularization, Limbal stem cell deficiency, Short neck, Finger joint ... OMIM:615225
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development
Optic atrophy, Microcornea, Cataract, Myopic astigmatism, Long philtrum, Thick lower lip vermilio... OMIM:152950
Congenital Hereditary Endothelial Dystrophy Type Ii
Abnormal Descemet membrane morphology, Irregular astigmatism, Corneal stromal edema, Increased co... ORPHA:293603
Microcephaly With Cervical Spine Fusion Anomalies
Vertebral fusion, Spinal instability OMIM:251250
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome
Carious teeth, Retrognathia, Downslanted palpebral fissures, Abnormality of retinal pigmentation,... ORPHA:1390
Dental Anomalies And Short Stature
Platyspondyly, Hypoplasia of the maxilla, Mandibular prognathia, Delayed skeletal maturation, Wid... OMIM:601216
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia
Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis media, Micrognathia, T... OMIM:602562
Contractures, Pterygia, And Spondylocarpotarsal Fusion Syndrome 1A
Carpal synostosis, Hip contracture, Short neck, Tarsal synostosis, Popliteal pterygium, Cervical ... OMIM:178110
Brachyolmia Type 1, Toledo Type
Lumbar hyperlordosis, Abnormal odontoid process morphology, Squared-off platyspondyly, Precocious... OMIM:271630
Xeroderma Pigmentosum, Complementation Group D
Cataract, Keratitis, Corneal neovascularization, Telangiectasia, Keratoconjunctivitis sicca, Entr... OMIM:278730
Bartsocas-Papas Syndrome 2
Axillary pterygium, Popliteal pterygium, Ankyloblepharon, Micrognathia, Microphthalmia, Bilateral... OMIM:619339
Multiple Pterygium Syndrome, X-Linked
Joint dislocation, Cleft upper lip, Micrognathia, Increased susceptibility to fractures, Multiple... OMIM:312150
Kniest Dysplasia
Delayed epiphyseal ossification, Hypoplasia of the odontoid process, Abnormal joint morphology, S... ORPHA:485
Trisomy 9P
Dental crowding, Downturned corners of mouth, Kyphosis, Downslanted palpebral fissures, Impacted ... ORPHA:236
Posterior Fusion Of Lumbosacral Vertebrae-Blepharoptosis Syndrome
Abnormal form of the vertebral bodies, Joint stiffness, Ptosis, Posterior fusion of lumbosacral v... ORPHA:2064
Lacrimoauriculodentodigital Syndrome
Carious teeth, Micrognathia, Limbal stem cell deficiency, Keratoconjunctivitis, Abnormal lacrimal... ORPHA:2363
Refractory Celiac Disease
Hypoalbuminemia, Normocytic anemia, Hypomagnesemia, Microcytic anemia, Abnormal spleen physiology... ORPHA:398063
Stickler Syndrome Type 1
Platyspondyly, Cataract, Hypoplasia of the maxilla, Long philtrum, Abnormal vertebral epiphysis m... ORPHA:90653
Klippel-Feil Syndrome 4, Autosomal Recessive, With Nemaline Myopathy And Facial Dysmorphism
Cardiomyopathy, Long philtrum, Micrognathia, Acetabular dysplasia, Cervical C2/C3 vertebral fusio... OMIM:616549
Microphthalmia/Coloboma 10
Iris coloboma, Microcoria, Chorioretinal coloboma, Microphthalmia OMIM:616428
Proteus-Like Syndrome
Genu recurvatum, Cataract, Mandibular prognathia, Irregular hyperpigmentation, Thymus hyperplasia... ORPHA:2969
Otodental Syndrome
Cataract, Microcornea, Carious teeth, Periodontitis, Abnormality of canine, Abnormal dental pulp ... ORPHA:2791
Koolen-De Vries Syndrome
High, narrow palate, Cataract, Abnormality of the dentition, Hip dislocation, Abnormal dental ena... ORPHA:96169
Nasopalpebral Lipoma-Coloboma Syndrome
Cataract, Recurrent upper respiratory tract infections, Hypoplasia of the maxilla, Sparse eyebrow... ORPHA:2399
Alacrimia-Choreoathetosis-Liver Dysfunction Syndrome
Hypotriglyceridemia, Delayed skeletal maturation, Increased susceptibility to fractures, Decrease... ORPHA:404454
Oculomaxillofacial Dysostosis
Abnormality of the dentition, Camptodactyly of finger, Aplasia/Hypoplasia of the eyebrow, Microgn... ORPHA:1794
Hypoalphalipoproteinemia, Primary, 2
Cataract, Corneal arcus OMIM:618463
Brachydactyly, Type B1
Joint contracture of the hand, Hypoplastic sacrum, Delayed cranial suture closure, Thoracolumbar ... OMIM:113000
Mucopolysaccharidosis Type 4
Platyspondyly, Abnormality of the dentition, Carious teeth, Joint dislocation, Delayed skeletal m... ORPHA:582
22Q11.2 Deletion Syndrome
Carious teeth, Hypopigmented skin patches, Micrognathia, Narrow mouth, Epicanthus, Posterior embr... ORPHA:567
Oculocerebrorenal Syndrome Of Lowe
Lentiglobus, Carious teeth, Periodontitis, Osteomalacia, Open bite, Micrognathia, Open mouth, Gen... ORPHA:534
Macular Corneal Dystrophy
Corneal crystals, Punctate opacification of the cornea, Recurrent corneal erosions, Opacification... ORPHA:98969
Mucopolysaccharidosis, Type Ivb
Aortic valve stenosis, Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Mitral reg... OMIM:253010
Granular Corneal Dystrophy Type I
Corneal crystals, Abnormal corneal epithelium morphology, Subepithelial corneal opacities, Recurr... ORPHA:98962
Alagille Syndrome
Keratoconus, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Downslanted palp... ORPHA:52
Distal Deletion 6P
Abnormality of the dentition, Downturned corners of mouth, Hypoplasia of the iris, Ectopia pupill... ORPHA:96125
Congenital Amegakaryocytic Thrombocytopenia
Abnormal form of the vertebral bodies, Melanocytic nevus, Abnormal hemoglobin, Decreased skull os... ORPHA:3319
Corneal Dystrophy, Fuchs Endothelial, 8
Corneal guttata, Corneal dystrophy OMIM:615523
Gómez-López-Hernández Syndrome
Thin vermilion border, Telecanthus, Corneal opacity ORPHA:1532
Hemoglobin D Disease
Reduced beta/alpha synthesis ratio, Reduced hemoglobin A, Imbalanced hemoglobin synthesis, Spleno... ORPHA:90039
Kenny-Caffey Syndrome, Type 1
Carious teeth, Delayed skeletal maturation, Hypomagnesemia, Hypocalcemia, Decreased skull ossific... OMIM:244460
Intellectual Developmental Disorder, Autosomal Dominant 70
Cataract, Hypoplasia of the maxilla, Short palpebral fissure, Highly arched eyebrow, Retrognathia... OMIM:620157
Bilateral Striopallidodentate Calcinosis
Thrombocytopenia, Corneal opacity ORPHA:1980
Anterior Segment Dysgenesis 1
Posterior polar cataract, Microcornea, Peters anomaly, Ocular anterior segment dysgenesis, Opacif... OMIM:107250
Sjogren-Larsson Syndrome
Macular degeneration, Astigmatism, Enamel hypoplasia, Opacification of the corneal epithelium, Re... OMIM:270200
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome
Optic atrophy, Cataract, Mandibular prognathia, Hypertrophic cardiomyopathy, Micrognathia, Upslan... ORPHA:496790
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Cataract, Conical tooth, Dental malocclusion, Ectopia pupillae, Unilateral narrow palpebral fissu... OMIM:618727
Frontonasal Dysplasia 1
Cataract, Hypoplasia of the maxilla, Joint contracture of the hand, Median cleft palate, Median c... OMIM:136760
Multiple Pterygium Syndrome, Lethal Type
Joint dislocation, Micrognathia, Increased susceptibility to fractures, Multiple pterygia, Epican... OMIM:253290
Malan Syndrome
Mandibular prognathia, Retrognathia, Downslanted palpebral fissures, Gingival overgrowth, Narrow ... OMIM:614753
Corneal Dystrophy, Thiel-Behnke Type
Juvenile epithelial corneal dystrophy, Corneal scarring, Corneal dystrophy OMIM:602082
Corneal Dystrophy, Meesmann, 1
Punctate opacification of the cornea, Corneal dystrophy OMIM:122100
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Telecanthus, Obesity, Ptosis, Blepharophimosis, Crowded maxillary inci... ORPHA:397973
Corneal Dystrophy, Fuchs Endothelial, 2
Corneal guttata, Corneal degeneration, Corneal dystrophy OMIM:610158
Corneal Dystrophy, Fuchs Endothelial, 6
Corneal guttata, Keratitis, Abnormal Descemet membrane morphology, Corneal stromal edema, Corneal... OMIM:613270
Hereditary Fructose Intolerance
Cataract, Hypophosphatemia, Hyperuricemia, Hypermagnesemia ORPHA:469
Iris Pigment Epithelium Anomalies
Iris cyst OMIM:601616
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Sparse eyebrow, Ectopic lacrimal punctum, Telecanthus, Lower eyelid co... OMIM:167730
8Q21.11 Microdeletion Syndrome
Iris hypopigmentation, Cataract, Abnormality of the dentition, Downturned corners of mouth, Downs... ORPHA:284160
Gitelman Syndrome
Hypermagnesemia, Chondrocalcinosis, Prominent U wave, Failure to thrive, Hypomagnesemia, Abnormal... ORPHA:358
Mucoepithelial Dysplasia, Hereditary
Cataract, Recurrent pneumonia, Chronic mucocutaneous candidiasis, Erythematous oral mucosa, Furro... OMIM:158310
Woolly Hair
Cataract, Hypopigmentation of hair, Abnormal pupil morphology, Sparse lateral eyebrow ORPHA:170
Otopalatodigital Syndrome Type 1
Limitation of joint mobility, Elbow dislocation, Synostosis of carpal bones, Downslanted palpebra... ORPHA:90650
Bartsocas-Papas Syndrome
Synostosis of joints, Popliteal pterygium, Ankyloblepharon, Aplasia/Hypoplasia of the eyebrow, Mi... ORPHA:1234
Warburg-Cinotti Syndrome
Symblepharon, Ankle flexion contracture, Dental crowding, Elbow flexion contracture, Gingival ove... OMIM:618175
Keratoendotheliitis Fugax Hereditaria
Conjunctival hyperemia, Opacification of the corneal stroma, Keratitis OMIM:148200
Anterior Segment Dysgenesis 2
Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Ant... OMIM:610256
Stickler Syndrome Type 2
Cataract, Corneal opacity ORPHA:90654
Hypocalciuric Hypercalcemia, Familial, Type Iii
Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypophosphatemia, Hypercalcemia, Bone pain OMIM:600740
Megalocornea
Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ... OMIM:309300
Short Stature, Amelogenesis Imperfecta, And Skeletal Dysplasia With Scoliosis
Carious teeth, Micrognathia, Genu valgum, Hip contracture, Advanced ossification of carpal bones,... OMIM:618363
Fuchs Endothelial Corneal Dystrophy
Abnormal corneal endothelium morphology, Abnormal Descemet membrane morphology, Reduced number of... ORPHA:98974
Pyle Disease
Platyspondyly, Carious teeth, Absent paranasal sinuses, Delayed eruption of teeth, Persistence of... OMIM:265900
Koolen-De Vries Syndrome
Open mouth, Epicanthus, Everted lower lip vermilion, Blepharophimosis, High palate, Hip dislocati... OMIM:610443
Regional Odontodysplasia
Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental... ORPHA:83450
Cataract 50 With Or Without Glaucoma
Cataract, Persistent pupillary membrane OMIM:620253
Rutherfurd Syndrome
Opacification of the corneal stroma, Corneal dystrophy OMIM:180900
Spondylocarpotarsal Synostosis Syndrome
Cataract, Block vertebrae, Hypoplasia of the odontoid process, Failure of eruption of permanent t... OMIM:272460
Cohen Syndrome
Micrognathia, Open mouth, Genu valgum, Microphthalmia, Iris coloboma, High, narrow palate, Hypopl... ORPHA:193
Hurler-Scheie Syndrome
Aortic regurgitation, Camptodactyly of finger, Contracture of the distal interphalangeal joint of... OMIM:607015
Mucopolysaccharidosis, Type Iva
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Short neck, Anterior beaking of l... OMIM:253000
Maxillonasal Dysplasia
Hypoplasia of the maxilla, Mandibular prognathia, Tooth agenesis, Open bite, Patchy distortion of... ORPHA:1248
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Platyspondyly, Multiple small vertebral fractures, Hypoplasia of the maxilla, Short philtrum, Thi... OMIM:156510
Temtamy Preaxial Brachydactyly Syndrome
Tooth malposition, Optic atrophy, Abnormally large globe, Abnormality of canine, Abnormal lens mo... ORPHA:363417
Gorlin Syndrome
Abnormal vertebral morphology, Cataract, Iris coloboma, Carious teeth, Mandibular prognathia, Ver... ORPHA:377
Combined Oxidative Phosphorylation Deficiency 55
Hypomagnesemia, Bilateral ptosis, Hypophosphatemic rickets, Open mouth, Elevated circulating crea... OMIM:619743
Isolated Ectopia Lentis
Cataract, Ectopia lentis, Ectopia pupillae, Joint stiffness, Malar flattening, Hypertension, Mand... ORPHA:1885
Hyperuricemia, Pulmonary Hypertension, Renal Failure, And Alkalosis Syndrome
Failure to thrive, Hypomagnesemia, Pancytopenia, Leukopenia, Hyperuricemia, Hyponatremia, Pulmona... OMIM:613845
Familial Dysautonomia
Osteolysis, Abnormal pupil morphology, Heterochromia iridis, Hyponatremia, Avascular necrosis, Hy... ORPHA:1764
Duane Retraction Syndrome
Hypopigmented skin patches, Chorioretinal coloboma, Micrognathia, Short neck, Everted lower lip v... ORPHA:233
Microcephaly-Cervical Spine Fusion Anomalies Syndrome
Abnormal dental morphology, Malar prominence, Micrognathia, Short neck, Ptosis, Hyperlordosis, Ky... ORPHA:2522
Anterior Segment Dysgenesis 5
Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Posterior embryotoxon, Devel... OMIM:604229
Oculofaciocardiodental Syndrome
Tooth malposition, Genu valgum, Radioulnar synostosis, Retinal detachment, Microphthalmia, Iris c... ORPHA:2712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Or Without Impaired Intellectual Development), Type B, 5
Macroglossia, Elbow contracture, Hyperlordosis, Achilles tendon contracture, Vertebral fusion, Sc... OMIM:606612
Isolated Klippel-Feil Syndrome
Abnormality of the vertebral column, Cervical C2/C3 vertebral fusion, Short neck, Abnormal sacrum... ORPHA:2345
Anterior Segment Dysgenesis 3
Peters anomaly, Ectopia pupillae, Rieger anomaly, Abnormal iris vasculature, Axenfeld anomaly, Po... OMIM:601631
Flynn-Aird Syndrome
Cataract, Carious teeth, Joint stiffness, Increased bone density with cystic changes, Kyphoscolio... OMIM:136300
Frontometaphyseal Dysplasia 1
Partial fusion of carpals, Carpal synostosis, Genu valgum, Limited elbow movement, Absent frontal... OMIM:305620
Lamb-Shaffer Syndrome
Optic atrophy, Micrognathia, Epicanthus, Fused cervical vertebrae, Thick vermilion border, Scolio... ORPHA:530983
Scheie Syndrome
Aortic valve stenosis, Aortic regurgitation, Genu valgum, Mitral stenosis, Spondylolisthesis, Ret... OMIM:607016
Epithelial Recurrent Erosion Dystrophy
Corneal scarring, Irregular astigmatism, Subepithelial corneal opacities, Recurrent corneal erosi... ORPHA:293381
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Cleft mandible, Everted lower lip vermilion, Microphthalmia, Pierre-Robin sequence, Abnormality o... ORPHA:364577
Unilateral Ocular Duplication
Microcornea, Abnormal eyebrow morphology, Abnormal pupil morphology, Median cleft upper lip, Blep... ORPHA:3374
Hemoglobin E-Beta-Thalassemia Syndrome
Anemia, Abnormal hemoglobin, Increased circulating ferritin concentration ORPHA:231249
Brittle Cornea Syndrome 1
Keratoconus, Dentinogenesis imperfecta, Abnormal cornea morphology, Congenital hip dislocation, S... OMIM:229200
Multiple Synostoses Syndrome 2
Carpal synostosis, Humeroradial synostosis, Finger symphalangism, Proximal symphalangism, Vertebr... OMIM:610017
Chromosome 8Q22.1 Duplication Syndrome
Genu recurvatum, Microcornea, Short palpebral fissure, Limitation of joint mobility, Interphalang... OMIM:151200
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract
Cataract, Aniridia, Microcornea OMIM:106230
Multiple Pterygium Syndrome, Escobar Variant
Intercrural pterygium, Micrognathia, Narrow mouth, Patellar aplasia, Dysplastic patella, Epicanth... OMIM:265000
Uremic Pruritus
Renal hypophosphatemia, Hypermagnesemia, Hypercalcemia, Increased blood urea nitrogen ORPHA:94059
Lateral Meningocele Syndrome
Dental crowding, Long philtrum, Downslanted palpebral fissures, Telecanthus, Micrognathia, Sclero... OMIM:130720
Mucolipidosis Type Iii Alpha/Beta
Aortic regurgitation, Recurrent upper respiratory tract infections, Congestive heart failure, Rec... ORPHA:423461
Hurler-Scheie Syndrome
Abnormal vertebral morphology, Limitation of joint mobility, Cardiomyopathy, Corneal opacity, Spi... ORPHA:93476
Basal Cell Nevus Syndrome 1
Cataract, Iris coloboma, Mandibular prognathia, Irregular ossification of hand bones, Vertebral w... OMIM:109400
Otopalatodigital Syndrome Type 2
Synostosis of carpal bones, Elbow dislocation, Carpal synostosis, Micrognathia, Narrow mouth, Ano... ORPHA:90652
Woolly Hair Nevus
Heterochromia iridis, Patchy hypopigmentation of hair, Persistent pupillary membrane, Widely-spac... ORPHA:79414
Congenital Rubella Syndrome
Cataract, Microphthalmia, Abnormality of retinal pigmentation, Aplasia/Hypoplasia of the iris, Sp... ORPHA:290
Hypocalciuric Hypercalcemia, Familial, Type Ii
Hypermagnesemia, Chondrocalcinosis, Hypercalcemia OMIM:145981
Larsen Syndrome
Hypoplastic cervical vertebrae, Elbow dislocation, Beaking of vertebral bodies, Hip dislocation, ... OMIM:150250
Muscular Dystrophy-Dystroglycanopathy (Limb-Girdle), Type C, 5
Macroglossia, Dilated cardiomyopathy, Hyperlordosis, Achilles tendon contracture, Vertebral fusio... OMIM:607155
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies
Microcornea, Hypoplasia of the iris, Ectopia pupillae, Cerebral hemorrhage, Ischemic stroke, Micr... OMIM:175780
Cohen Syndrome
High, narrow palate, Macrodontia of permanent maxillary central incisor, Hypoplasia of the maxill... OMIM:216550
Frontorhiny
Cataract, Iris coloboma, Hypoplasia of the maxilla, Camptodactyly of finger, Lumbar hyperlordosis... ORPHA:391474
Wildervanck Syndrome
Lens subluxation, Short neck, Pseudopapilledema, Fused cervical vertebrae ORPHA:3456
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome
Iris coloboma, Restrictive cardiomyopathy, Flexion contracture, Mitral regurgitation, Epicanthus,... ORPHA:88630
Microphthalmia/Coloboma 9
Microcornea, Long philtrum, Ptosis, Retinal detachment, Ocular anterior segment dysgenesis, Micro... OMIM:615145
Klippel-Feil Syndrome 2, Autosomal Recessive
Cleft upper lip, Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Fused cerv... OMIM:214300
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Abnormally prominent line of Schwalbe, Abnormality of the vertebral co... OMIM:109120
Hypomagnesemia 7, Renal, With Or Without Dilated Cardiomyopathy
Dilated cardiomyopathy, Hypomagnesemia, Reduced left ventricular ejection fraction, Hypocalcemia,... OMIM:620152
Multicentric Osteolysis, Nodulosis, And Arthropathy
Micrognathia, Hip contracture, Protrusio acetabuli, Osteopenia, Hypoplasia of the maxilla, Ankle ... OMIM:259600
Corneal Dystrophy, Fuchs Endothelial, 4
Corneal guttata, Corneal dystrophy OMIM:613268
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 3
Vertebral fusion, Sacral dimple, Vertebral segmentation defect OMIM:618845
Spondylocostal Dysostosis 5
Butterfly vertebrae, Low back pain, Short neck, Hemivertebrae, Vertebral fusion, Scoliosis OMIM:122600
Chromosome 1P36.33 Duplication Syndrome, Atad3 Gene Cluster, Autosomal Dominant
Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Corneal opacity, Developmental cataract, Bra... OMIM:618815
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome
Cataract, Microcornea, Long philtrum, Ectopia pupillae, Cryptophthalmos, Long eyelashes, Epicanth... OMIM:615877
Schimke Immuno-Osseous Dysplasia
Shallow acetabular fossae, Lymphopenia, Short neck, Neutropenia, Ovoid vertebral bodies, Abnormal... ORPHA:1830
Exfoliation Syndrome
Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio... OMIM:177650
Multiple Congenital Anomalies-Neurodevelopmental Syndrome, X-Linked
Retrognathia, Downslanted palpebral fissures, Telecanthus, Leukopenia, Butterfly vertebrae, Astig... OMIM:301056
Oculoauricular Syndrome
Cataract, Microcornea, Nasolacrimal duct obstruction, Posterior synechiae of the anterior chamber... OMIM:612109
Al-Gazali Syndrome
Osteopenia, Recurrent pneumonia, Failure to thrive, Micrognathia, Recurrent fractures, Wrist flex... OMIM:609465
Diaphanospondylodysostosis
Absent or minimally ossified vertebral bodies, Short neck, Cleft palate, Abnormal vertebral segme... ORPHA:66637
Cardioneuromyopathy With Hyaline Masses And Nemaline Rods
Cardiomyopathy, Fusion of midcervical facet joints, Widening of cervical spinal canal, Global sys... OMIM:606842
Osteoporosis-Pseudoglioma Syndrome
Osteopenia, Increased susceptibility to fractures, Joint hypermobility, Wormian bones, Retinal de... ORPHA:2788
X-Linked Recessive Ocular Albinism
Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ... ORPHA:54
Carpenter Syndrome 1
Lambdoidal craniosynostosis, Joint contracture of the hand, Shallow acetabular fossae, Micrognath... OMIM:201000
Aniridia-Renal Agenesis-Psychomotor Retardation Syndrome
Downturned corners of mouth, Aniridia, Micrognathia, Telecanthus, Corneal opacity, Craniosynostos... ORPHA:1064
Baraitser-Winter Syndrome 2
Highly arched eyebrow, Retrognathia, Long philtrum, Telecanthus, Thin upper lip vermilion, Long p... OMIM:614583
Pearson Syndrome
Pancytopenia, Hypophosphatemia, Neutropenia, Hypoplastic spleen, Cataract, Median cleft palate, H... ORPHA:699
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Cervical kyphosis, Elbow dislocation, Knee dislocation, Micrognathia, ... OMIM:108721
Pelvis-Shoulder Dysplasia
Congenital hip dislocation, Hypoplastic acetabulae, Optic disc coloboma, Lumbar hyperlordosis, Mi... OMIM:169550
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Platyspondyly, Dental malocclusion, Optic disc coloboma, Ectopia pupillae, Recurrent otitis media... OMIM:608940
Sialidosis Type 2
Osteoporosis, Flexion contracture, Kyphosis, Corneal opacity ORPHA:87876
Lowry-Maclean Syndrome
High, narrow palate, Talon cusp, Hypoplasia of the maxilla, Osteopenia, Downturned corners of mou... ORPHA:2409
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Recurrent otitis media, Micrognathia, Epicanthus, Short neck, Beaking of vertebral bodies, Microd... OMIM:213980
Abruzzo-Erickson Syndrome
Microcornea, Chorioretinal coloboma, Malar flattening, Abnormal palate morphology, Epicanthus, Ra... ORPHA:921
Cataract 1, Multiple Types
Microcornea, Nuclear cataract, Posterior subcapsular cataract, Pulverulent cataract OMIM:116200
Cerebrooculofacioskeletal Syndrome 1
Cataract, Recurrent pneumonia, Carious teeth, Joint contracture of the hand, Delayed eruption of ... OMIM:214150
Martsolf Syndrome 1
Tooth malposition, Micrognathia, Epicanthus, Microphthalmia, Finger joint hypermobility, High pal... OMIM:212720
Acro-Renal-Ocular Syndrome
Cataract, Microcornea, Short palpebral fissure, Optic disc coloboma, Chorioretinal coloboma, Vert... ORPHA:959
Spondylometaphyseal Dysplasia With Corneal Dystrophy
Thoracic platyspondyly, Increased intervertebral space, Beaking of vertebral bodies, Corneal opac... OMIM:618961
Posterior Polymorphous Corneal Dystrophy
Increased corneal curvature, Ectopia pupillae, Uveal ectropion, Astigmatism, Abnormal Descemet me... ORPHA:98973
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Multiple suture craniosynostosis, Ptosis, Conjunctiviti... ORPHA:207
3Q29 Microduplication Syndrome
Cataract, Abnormality of the dentition, Downslanted palpebral fissures, Aniridia, Obesity, Campto... ORPHA:251038
Robinow Syndrome, Autosomal Recessive 1
Thoracic hemivertebrae, Delayed cranial suture closure, Micrognathia, Epicanthus, Short neck, Tho... OMIM:268310
Megalocornea-Intellectual Disability Syndrome
Osteopenia, Kyphosis, Hypoplasia of the iris, Megalocornea, Downslanted palpebral fissures, Micro... ORPHA:2479
Proboscis Lateralis
Chorioretinal coloboma, Unilateral narrow palpebral fissure, Abnormal nasolacrimal system morphol... ORPHA:141099
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive
Cataract, Microcornea, Posterior synechiae of the anterior chamber, Hyphema, Persistent pupillary... OMIM:221900
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Slender build, High palate, Scoliosis, Mandibular prognathia, Kyphosis OMIM:300676
Mucopolysaccharidosis, Type Vii
Hypoplasia of the odontoid process, Limitation of joint mobility, Recurrent otitis media, Genu va... OMIM:253220
Premature Aging Syndrome, Penttinen Type
Delayed cranial suture closure, Micrognathia, Flexion contracture of finger, Microphthalmia, Hypo... OMIM:601812
Myhre Syndrome
Aortic valve stenosis, Limitation of joint mobility, Enlarged vertebral pedicles, Narrow mouth, S... OMIM:139210
Orthostatic Hypotension 1
Atrial fibrillation, Hypomagnesemia, Joint hypermobility, Ptosis, Increased blood urea nitrogen, ... OMIM:223360
Erythrokeratodermia Variabilis
Cataract, Irregular hyperpigmentation, Weight loss, Corneal opacity, Hypermelanotic macule ORPHA:317
Hypocalciuric Hypercalcemia, Familial, Type I
Hypermagnesemia, Hypercalcemia OMIM:145980
Craniolenticulosutural Dysplasia
Posterior Y-sutural cataract, Carious teeth, Posterior wedging of vertebral bodies, Hypoplasia of... ORPHA:50814
Dentinogenesis Imperfecta
Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Generalized hypoplasia ... ORPHA:49042
Geroderma Osteodysplasticum
Platyspondyly, Abnormality of the dentition, Hypoplasia of the maxilla, Osteopenia, Periodontitis... OMIM:231070
Acrodysostosis 1 With Or Without Hormone Resistance
Hypoplasia of the maxilla, Dental malocclusion, Delayed eruption of teeth, Hyperphosphatemia, Spi... OMIM:101800
Hypomagnesemia, Seizures, And Impaired Intellectual Development 1
Class III obesity, Hypomagnesemia OMIM:616418
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5
Cataract, Coloboma, Retinal detachment, Corneal opacity, Microphthalmia OMIM:613153
Primary Intestinal Lymphangiectasia
Hypoalbuminemia, Hypomagnesemia, Lymphopenia, Hypocalcemia, Reduced proportion of CD4+ effector m... ORPHA:90362
Schimmelpenning-Feuerstein-Mims Syndrome
Osteopenia, Abnormal dental morphology, Hypophosphatemic rickets, Kyphoscoliosis, Coloboma, Corne... OMIM:163200
Wagro Syndrome
Cataract, Mandibular prognathia, Dental crowding, Downslanted palpebral fissures, Aniridia, Micro... OMIM:612469
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Lacrimal duct atresia, Downslanted palpebral fissures, Camptodactyly o... ORPHA:1529
Amoebic Keratitis
Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ... ORPHA:67043
Intellectual Developmental Disorder, Autosomal Dominant 52
Downturned corners of mouth, Lumbar hyperlordosis, Open mouth, Astigmatism, Lumbar scoliosis, Cer... OMIM:617796
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2
Cataract, Macroglossia, Peters anomaly, Congenital contracture, Cleft upper lip, Elevated circula... OMIM:613150
X-Linked Skeletal Dysplasia-Intellectual Disability Syndrome
Fused cervical vertebrae, Abnormal sacrum morphology, Scoliosis, Thoracic hemivertebrae ORPHA:1436
Intellectual Developmental Disorder With Dysmorphic Facies And Ptosis
Downturned corners of mouth, Long philtrum, Downslanted palpebral fissures, Narrow mouth, Joint h... OMIM:617333
Ehlers-Danlos Syndrome, Classic-Like, 2
Osteopenia, Bilateral ptosis, Knee dislocation, Thin eyebrow, Shoulder dislocation, Micrognathia,... OMIM:618000
Brittle Cornea Syndrome 2
Keratoconus, Corneal perforation, Megalocornea, Keratoglobus, Sclerocornea, Flat cornea, Decrease... OMIM:614170
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia, Arthrogryposis multiplex congenita, Multiple pterygia OMIM:601809
Chromosome 8Q21.11 Deletion Syndrome
Cataract, Pigmentary retinopathy, Short palpebral fissure, Downturned corners of mouth, Downslant... OMIM:614230
Mucolipidosis Iv
Optic atrophy, Opacification of the corneal stroma, Corneal opacity, Retinal degeneration OMIM:252650
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Hypoplasia of the maxilla, Thick eyebrow, Upslanted palpebral fissure, Thin upper ... OMIM:618737
Sanjad-Sakati Syndrome
Abnormality of the dentition, Patchy osteosclerosis, Hyperphosphatemia, Long philtrum, Delayed sk... ORPHA:2323
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness
Cataract, Microcornea, Micrognathia, Decreased body weight, Coloboma, Shallow orbits, Osteopetros... OMIM:617306
Familial Hypocalciuric Hypercalcemia
Renal hypophosphatemia, Hypermagnesemia, Chondrocalcinosis, Osteomalacia, Hypocalcemic seizures, ... ORPHA:405
Hypocalcemia, Autosomal Dominant 1
Hyperphosphatemia, Hypomagnesemia, Hypocalcemia, Hypokalemia, Increased circulating renin level OMIM:601198
Pseudohypoaldosteronism Type 2
Abnormal dental enamel morphology, Abnormality of the dentition, Hyperkalemia, Hypertension ORPHA:757
Brachytelephalangic Chondrodysplasia Punctata
Hypoplastic cervical vertebrae, Stippling of the epiphyses of the distal phalanges of the hand, C... ORPHA:79345
Helix Syndrome
Hypokalemia, Hypermagnesemia OMIM:617671
Cystinosis, Nephropathic
Pigmentary retinopathy, Decreased circulating carnitine concentration, Corneal crystals, Rickets,... OMIM:219800
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome
Orofacial cleft, Coloboma, Ocular anterior segment dysgenesis, Developmental cataract, Microphtha... ORPHA:324416
Zellweger Syndrome
Cataract, Failure to thrive, Micrognathia, Epiphyseal stippling, Upslanted palpebral fissure, Epi... ORPHA:912
Osteopetrosis, Autosomal Recessive 9
Cortical sclerosis, Pathologic fracture, Elevated circulating creatinine concentration, Osteopetr... OMIM:620366
Osteopetrosis, Autosomal Recessive 5
Mydriasis, Long philtrum, Extramedullary hematopoiesis, Cranial hyperostosis, Hepatosplenomegaly,... OMIM:259720
Ectopia Lentis Et Pupillae
Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m... OMIM:225200
Mosaic Trisomy 20
Craniofacial asymmetry, Cleft lip, Retrognathia, Spinal canal stenosis, Micrognathia, Upslanted p... ORPHA:1724
Coffin-Lowry Syndrome
Craniofacial hyperostosis, Open mouth, Epicanthus, Everted lower lip vermilion, High palate, Cata... ORPHA:192
Temtamy Syndrome
Aortic regurgitation, Highly arched eyebrow, Ectopia lentis, Dental crowding, Chorioretinal colob... OMIM:218340
Spondylometaphyseal Dysplasia, 'Corner Fracture' Type
Abnormal vertebral morphology, Limitation of joint mobility, Genu valgum, Intervertebral space na... ORPHA:93315
Pycnodysostosis
Carious teeth, Delayed cranial suture closure, Micrognathia, Delayed eruption of primary teeth, H... ORPHA:763
Persistent Hyperplastic Primary Vitreous
Cataract, Hyaloid vascular remnant and retrolental mass, Microcornea, Hemorrhage of the eye, Trac... ORPHA:91495
Gm1-Gangliosidosis, Type Iii
Platyspondyly, Hypoplastic acetabulae, Anterior beaking of lumbar vertebrae, Opacification of the... OMIM:230650
Hurler Syndrome
Aortic regurgitation, Hypoplasia of the odontoid process, Cardiomyopathy, Bilateral ptosis, Recur... OMIM:607014
Atelis Syndrome 1
Cataract, Carious teeth, Irregular hyperpigmentation, Long philtrum, Downslanted palpebral fissur... OMIM:620184
Aicardi Syndrome
Cataract, Optic atrophy, Block vertebrae, Recurrent pneumonia, Sparse lateral eyebrow, Optic disc... OMIM:304050
Fish-Eye Disease
Opacification of the corneal stroma OMIM:136120
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Telecanthus, Aplasia/Hypoplasia of the iris, Microdontia, Hypodontia, ... ORPHA:782
Otodental Dysplasia
Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Taurodontia, Coloboma, Pulp calci... OMIM:166750
Peroxisome Biogenesis Disorder 2A (Zellweger)
Cataract, Joint contracture of the hand, Pigmentary retinopathy, Failure to thrive, Palpebral ede... OMIM:214110
Microphthalmia, Syndromic 3
Cataract, Optic nerve aplasia, Vertebral hypoplasia, Butterfly vertebrae, Coloboma, Hemivertebrae... OMIM:206900
Shashi-Pena Syndrome
Highly arched eyebrow, Retrognathia, Long eyelashes, Cervical C2/C3 vertebral fusion, Thin upper ... OMIM:617190
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development
Opacification of the corneal stroma OMIM:204850
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism
Carious teeth, Generalized hypoplasia of dental enamel, Telecanthus, Thoracic kyphoscoliosis, Fle... OMIM:203550
Bone Marrow Failure Syndrome 3
Aplastic anemia, Persistence of hemoglobin F, Pancytopenia, Micrognathia, Oral ulcer, Hypomelanot... OMIM:617052
Elsahy-Waters Syndrome
Megalocornea, High palate, Increased cup-to-disc ratio, Cataract, Hypoplasia of the maxilla, Down... OMIM:211380
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Abnormal form of the vertebral bodies, Malar flattening... ORPHA:93262
Sialidosis Type 1
Cataract, Abnormal form of the vertebral bodies, Delayed skeletal maturation, Thick lower lip ver... ORPHA:812
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome
Platyspondyly, Hypotriglyceridemia, Ectopia pupillae, Microphthalmia, Abnormality of retinal pigm... ORPHA:85167
Mucopolysaccharidosis Type 1
Optic atrophy, Joint dislocation, Abnormal form of the vertebral bodies, Congestive heart failure... ORPHA:579
Ichthyosis, Congenital, Autosomal Recessive 11
Sparse eyebrow, Curly eyelashes, Sparse eyelashes, Conical primary incisor, Corneal opacity, Blep... OMIM:602400
Renal Hypoplasia, Bilateral
Failure to thrive, Astigmatism, Hyponatremia, Anemia, Hyperkalemia, Hypertension, Small for gesta... ORPHA:97362
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Broad eyebrow, Narrow palpebral fissure, Small for gestational age, Sy... OMIM:618302
Alpha-Thalassemia-Intellectual Disability Syndrome Linked To Chromosome 16
Retrognathia, Failure to thrive, Downslanted palpebral fissures, Microcytic anemia, HbH hemoglobi... ORPHA:98791
Christian Syndrome
Fused cervical vertebrae, Scoliosis, Prominent metopic ridge, Thoracic hemivertebrae OMIM:309620
Hemangioma-Thrombocytopenia Syndrome
Ventricular arrhythmia, Thrombocytopenia, Hyperkalemia, Microangiopathic hemolytic anemia OMIM:141000
Phacoanaphylactic Uveitis
Anterior chamber flare grade 1+, Posterior uveitis, Hypopyon, Panuveitis, Posterior synechiae of ... ORPHA:209959
Iridocorneal Endothelial Syndrome
Posterior synechiae of the anterior chamber, Central heterochromia, Ectopia pupillae, Abnormal mi... ORPHA:64734
Amelogenesis Imperfecta
Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior... ORPHA:88661
Robin Sequence With Distinctive Facial Appearance And Brachydactyly
Exaggerated median tongue furrow, Cleft mandible, Micrognathia, Everted lower lip vermilion, Micr... OMIM:608670
Axenfeld-Rieger Syndrome, Type 3
Posterior synechiae of the anterior chamber, Ectopia pupillae, Hypoplasia of the iris, Malar flat... OMIM:602482
Spondylodysplastic Ehlers-Danlos Syndrome
Aortic valve stenosis, Abnormal vertebral morphology, Megalocornea, Subluxation of the small join... ORPHA:536471
Lujan-Fryns Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Camptodactyly of finger... ORPHA:776
Hypomagnesemia 5, Renal, With Or Without Ocular Involvement
Amelogenesis imperfecta, Abnormal circulating calcium concentration, Astigmatism, Hypomagnesemia OMIM:248190
Axenfeld-Rieger Syndrome, Type 2
Hypoplasia of the maxilla, Microcornea, Telecanthus, Microdontia, Hypodontia, Everted lower lip v... OMIM:601499
Alexander Disease
Microcoria OMIM:203450
Stickler Syndrome
Open bite, Slender build, Micrognathia, Genu valgum, Short hard palate, Arrhythmia, Cachexia, Ret... ORPHA:828
Axenfeld-Rieger Syndrome, Type 1
Microcornea, Abnormally prominent line of Schwalbe, Hypoplasia of the maxilla, Ectopia pupillae, ... OMIM:180500
Crouzon Syndrome
Lambdoidal craniosynostosis, Optic atrophy, Hypoplasia of the maxilla, Coronal craniosynostosis, ... OMIM:123500
Gm1 Gangliosidosis
Platyspondyly, Optic atrophy, Mandibular prognathia, Abnormal form of the vertebral bodies, Cardi... ORPHA:354
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome
Thoracic hemivertebrae, Micrognathia, Abnormal optic disc morphology, Short neck, Cervical hemive... ORPHA:508498
Ring Chromosome 21 Syndrome
Scoliosis, Fused thoracic vertebrae, Thoracic hemivertebrae ORPHA:1445
Neurodevelopmental Disorder With Dysmorphic Facies And Distal Skeletal Anomalies
Long philtrum, Downslanted palpebral fissures, Micrognathia, Narrow mouth, Astigmatism, Wide mout... OMIM:618659
Microphthalmia/Coloboma 12
Peters anomaly, Optic disc coloboma, Chorioretinal coloboma, Optic nerve aplasia, Corneal opacity... OMIM:120200
Apert Syndrome
Optic atrophy, Hypoplasia of the maxilla, Bifid uvula, Mandibular prognathia, Delayed eruption of... ORPHA:87
Birk-Landau-Perez Syndrome
Failure to thrive in infancy, Long eyelashes, Upslanted palpebral fissure, Increased circulating ... OMIM:617595
Colchicine Poisoning
Hypotension, Cardiogenic shock, Hypomagnesemia, Congestive heart failure, Leukocytosis, Hypocalce... ORPHA:31824
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Upslanted palpebral fissure, Decreased body weight, Mandibular prognat... ORPHA:93950
Andersen-Tawil Syndrome
Polymorphic and polytopic ventricular extrasystoles, Torsade de pointes, Bidirectional ventricula... ORPHA:37553
Microcephalic Primordial Dwarfism, Montreal Type
Carious teeth, Open bite, Micrognathia, Reduced bone mineral density, Abnormal palate morphology,... ORPHA:2617
Marshall Syndrome
Cataract, Hypoplasia of the maxilla, Abnormality of the dentition, Ectopia lentis, Hypoplasia of ... ORPHA:560
Neuhauser Syndrome
Genu recurvatum, Bifid uvula, Osteopenia, Long philtrum, Hypoplasia of the iris, Megalocornea, Do... OMIM:249310
Andersen Cardiodysrhythmic Periodic Paralysis
Bidirectional ventricular ectopy, Micrognathia, Blepharophimosis, High palate, Hypoplasia of the ... OMIM:170390
Neuroleptic Malignant Syndrome
Hypertensive crisis, Hypotension, Hyperphosphatemia, Pulmonary embolism, Hypomagnesemia, Thromboc... ORPHA:94093
Norrie Disease
Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit... OMIM:310600
Nephrogenic Diabetes Insipidus-Intracranial Calcification-Short Stature-Facial Dysmorphism Syndrome
Carious teeth, Limitation of joint mobility, Hypoplasia of the zygomatic bone, Downslanted palpeb... ORPHA:3145
Alkaptonuria
Limited hip movement, Brown pigmentation of the conjunctiva, Intervertebral disk degeneration, Ar... OMIM:203500
Frontometaphyseal Dysplasia
Joint contracture of the hand, Micrognathia, Limited elbow movement, Dislocated radial head, Fuse... ORPHA:1826
Mucopolysaccharidosis, Type Vi
Carious teeth, Hypoplasia of the odontoid process, Genu valgum, Mitral regurgitation, Ovoid verte... OMIM:253200
Trichothiodystrophy 6, Nonphotosensitive
Coronal craniosynostosis, Microcornea, Delayed skeletal maturation, Increased HbA2 hemoglobin, In... OMIM:616943
Oculocerebral Hypopigmentation Syndrome, Cross Type
Iris hypopigmentation, Cataract, Limitation of joint mobility, Ocular albinism, Narrow mouth, Abn... ORPHA:2719
Mucolipidosis Iii Alpha/Beta
Aortic regurgitation, Mandibular prognathia, Shallow acetabular fossae, Kyphosis, Limitation of j... OMIM:252600
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Hypoplasia of the maxilla, Mandibular prognathia, Long philtrum, Megalocorne... ORPHA:1101
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome
Microcornea, Chorioretinal coloboma, Remnants of the hyaloid vascular system, Microphthalmia, Pos... ORPHA:231736
Dysostosis, Stanescu Type
Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat... ORPHA:1798
Spondylocostal Dysostosis 4, Autosomal Recessive
Block vertebrae, Abnormal odontoid process morphology, Vertebral segmentation defect, Short neck,... OMIM:613686
Generalized Pseudohypoaldosteronism Type 1
Hypovolemic shock, Failure to thrive in infancy, Osteomyelitis, Hyponatremia, Arrhythmia, Weight ... ORPHA:171876
Spondyloepiphyseal Dysplasia Tarda, X-Linked
Platyspondyly, Hip osteoarthritis, Hump-shaped mound of bone in central and posterior portions of... OMIM:313400
Corticosterone Methyloxidase Type I Deficiency
Hypotension, Failure to thrive, Hyponatremia, Hyperkalemia, Increased circulating renin level OMIM:203400
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome
Hypoalbuminemia, Hypomagnesemia, Failure to thrive in infancy, Osteomyelitis, Hypocalcemia, Autoi... ORPHA:37042
Hypomagnesemia 3, Renal
Hyperphosphatemia, Increased circulating beta-C-terminal telopeptide concentration, Rickets, Hypo... OMIM:248250
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis
Peters anomaly, Coloboma, Ocular anterior segment dysgenesis, Microphthalmia, Iris coloboma OMIM:610023
Hereditary Persistence Of Fetal Hemoglobin-Beta-Thalassemia Syndrome
Anemia, Splenomegaly, Abnormal bone structure, Persistence of hemoglobin F ORPHA:46532
Treacher-Collins Syndrome
Open bite, Micrognathia, Narrow mouth, Absent eyelashes, Microphthalmia, High palate, Iris colobo... ORPHA:861
Aicardi Syndrome
Optic atrophy, Block vertebrae, Sparse lateral eyebrow, Optic disc coloboma, Chorioretinal colobo... ORPHA:50
Kbg Syndrome
Long philtrum, Downslanted palpebral fissures, Delayed skeletal maturation, Macrodontia, Telecant... OMIM:148050
Dislocation Of The Hip-Dysmorphism Syndrome
Congenital hip dislocation, Narrow mouth, Malar flattening, Abnormal palate morphology, Prominenc... ORPHA:2412
Weill-Marchesani Syndrome 1
Aortic valve stenosis, Cataract, Microspherophakia, Tooth malposition, Ectopia lentis, Hypoplasia... OMIM:277600
Wildervanck Syndrome
Pseudopapilledema, Fused cervical vertebrae OMIM:314600
Neovascular Glaucoma
Rubeosis iridis, Uveal ectropion, Conjunctival hyperemia, Corneal stromal edema, Abnormal anterio... ORPHA:94058
Corneal Dystrophy, Posterior Polymorphous, 3
Corneal guttata, Keratoconus, Corneal dystrophy, Ectopia pupillae OMIM:609141
Hyperchlorhidrosis, Isolated
Hyponatremia, Hyperkalemia, Failure to thrive OMIM:143860
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction
Abnormal B cell morphology, Cleft lip, Ectopia pupillae, Contracture of the proximal interphalang... OMIM:618223
3Mc Syndrome 2
Abnormal vertebral morphology, Highly arched eyebrow, Caudal appendage, Downturned corners of mou... OMIM:265050
Chromosome 6Pter-P24 Deletion Syndrome
Pigmentary retinopathy, Short palpebral fissure, Peters anomaly, Dental crowding, Cleft upper lip... OMIM:612582
Hypomagnesemia 1, Intestinal
Hypocalcemia, Hypomagnesemia OMIM:602014
Severe Oculo-Renal-Cerebellar Syndrome
Optic atrophy, Cataract, Mandibular prognathia, Hypoplasia of the zygomatic bone, Malar prominenc... ORPHA:2715
Goldberg-Shprintzen Syndrome
Aortic regurgitation, Highly arched eyebrow, Hypoplasia of the maxilla, Megalocornea, Downslanted... OMIM:609460
Cystinosis
Rickets, Failure to thrive, Portal hypertension, Hypokalemia, Hypophosphatemia, Corneal opacity ORPHA:213
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Coronal craniosynostosis, Astigmatism, O... ORPHA:2095
8Q22.1 Microdeletion Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Sparse eyebrow, Highly arched eyebrow, L... ORPHA:178303
Corticosterone Methyloxidase Type Ii Deficiency
Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased circulating ren... OMIM:610600
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Arthrogryposis multiplex congenita, Hepatosplenomegaly, Micrognathia, Cleft soft palate, Narrow m... OMIM:619503
Ophthalmomandibulomelic Dysplasia
Elbow dislocation, Megalocornea, Temporomandibular joint ankylosis, Decreased mobility 3rd-5th fi... OMIM:164900
Cleft Lip/Palate
Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Rec... ORPHA:199306
Atelis Syndrome 2
Short palpebral fissure, Downturned corners of mouth, Diastema, Thick lower lip vermilion, Sacral... OMIM:620185
Sifrim-Hitz-Weiss Syndrome
Bifid uvula, Short palpebral fissure, Astigmatism, Upslanted palpebral fissure, Epicanthus, Wormi... OMIM:617159
Microphthalmia, Syndromic 16
Sclerocornea OMIM:611038
Familial Isolated Hypoparathyroidism Due To Agenesis Of Parathyroid Gland
Hypocalcemic seizures, Hyperphosphatemia, Hypocalcemia, Hypomagnesemia ORPHA:2239
De Barsy Syndrome
Cataract, Osteopenia, Congenital hip dislocation, Delayed eruption of teeth, Failure to thrive, D... ORPHA:2962
Sponastrime Dysplasia
Delayed epiphyseal ossification, Shallow acetabular fossae, Genu valgum, Epicanthus, Microcoria, ... ORPHA:93357
Craniometadiaphyseal Dysplasia
Osteopenia, Mandibular prognathia, Carious teeth, Natal tooth, Abnormally large globe, Absent par... OMIM:269300
Mucolipidosis Iii Gamma
Aortic valve stenosis, Aortic regurgitation, Joint stiffness, Genu valgum, Claw hand deformity, S... OMIM:252605
Dominant Beta-Thalassemia
Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he... ORPHA:231226
Congenital Primary Aphakia
Corneal perforation, Optic disc coloboma, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affect... ORPHA:83461
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Abnormality of the dentition, Highly arched eyebrow, Carious teeth, Hypoplasia of the zygomatic b... ORPHA:3253
Pde4D Haploinsufficiency Syndrome
Hypotension, Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morphology, Obesity... ORPHA:439822
Mucopolysaccharidosis Type 6
Recurrent upper respiratory tract infections, Failure to thrive, Thick lower lip vermilion, Joint... ORPHA:583
Nager Syndrome
Sparse lower eyelashes, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Downslanted ... ORPHA:245
Corneal Dystrophy, Posterior Amorphous
Iris coloboma, Corneal dystrophy, Ectopia pupillae OMIM:612868
Intellectual Disability-Facial Dysmorphism-Hand Anomalies Syndrome
Short palpebral fissure, Recurrent otitis media, Cervical C2/C3 vertebral fusion, Thin upper lip ... ORPHA:370010
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones
Osteopenia, Hypoplasia of the maxilla, Abnormality of carpal bone ossification, Failure to thrive... OMIM:608154
Mosaic Trisomy 8
Limitation of joint mobility, Arthrogryposis multiplex congenita, Camptodactyly of finger, Microg... ORPHA:96061
Incontinentia Pigmenti
Cataract, Keratitis, Delayed eruption of teeth, Congestive heart failure, Abnormal dental enamel ... ORPHA:464
Alpha-Mannosidosis, Adult Form
Aortic regurgitation, Cataract, Macroglossia, Osteopenia, Recurrent gastroenteritis, Corneal opac... ORPHA:309288
Klippel-Feil Syndrome 1, Autosomal Dominant
Cervical C2/C3 vertebral fusion, Short neck, Scoliosis, Cleft palate, Abnormal vertebral segmenta... OMIM:118100
Primary Hypomagnesemia-Refractory Seizures-Intellectual Disability Syndrome
Episodic hypokalemia, Hypomagnesemia ORPHA:564178
Mucopolysaccharidosis Type 7
Anterior beaking of lower thoracic vertebrae, Joint stiffness, Epiphyseal stippling, Short neck, ... ORPHA:584
Cranial Dysinnervation Disorder, Congenital, With Absent Corneal Reflex And Developmental Delay
Highly arched eyebrow, Long palpebral fissure, Ptosis, Corneal opacity, Narrow palate OMIM:620469
Hemoglobin-Delta locus
Anemia, Imbalanced hemoglobin synthesis OMIM:142000
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Tricuspid reg... ORPHA:228396
Late-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased ci... ORPHA:556037
Spondyloepiphyseal Dysplasia, Maroteaux Type
Platyspondyly, Atlantoaxial instability, Genu valgum, Kyphoscoliosis, Short neck, Small joint hyp... OMIM:184095
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Downslanted palpebral fissures, Narrow mouth, Malar fla... ORPHA:261295
Gitelman Syndrome
Hypotension, Chondrocalcinosis, Failure to thrive, Hypomagnesemia, Palpitations, Hypokalemia, Ven... OMIM:263800
Beta-Thalassemia Major
Reduced hemoglobin A, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Persistence of he... ORPHA:231214
Lcat Deficiency
Decreased HDL cholesterol concentration, Corneal opacity, Decreased circulating apolipoprotein A-... ORPHA:650
Fanconi Anemia, Complementation Group I
Astigmatism, Decreased body weight, Short neck, Fused cervical vertebrae, Microphthalmia, Optic n... OMIM:609053
Early-Onset Familial Hypoaldosteronism
Hypotension, Failure to thrive, Hyponatremia, Orthostatic hypotension, Hyperkalemia, Increased ci... ORPHA:556030
Hec Syndrome
Cardiomyopathy, Abnormal pupil morphology, Developmental cataract, Arrhythmia ORPHA:2119
Mirage Syndrome