Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:
cyclin D1
Synonyms:
CycD1,  bcl-1,  PRAD1,  Cyl-1,  cD1

IMPC Data Collections

  • No Body Weight Data
  • No Embryo Imaging Data
  • No Viability Data

IMPC Phenotype Summary

Significant
Not Significant
Not tested

Phenotypes

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

lacZ Expression

Expression data not available

Associated Images

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

Phenotype associated images not available

Human diseases caused by Ccnd1 mutations

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

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

The table below shows human diseases associated to Ccnd1 by orthology or direct annotation.

Disease Similarity of
phenotypes
Matching phenotypes Source
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Retinal detachment, Adrenal pheochromocytoma, Retinal capillary hemangi... ORPHA:892
Multiple Myeloma
Weight loss ORPHA:29073
Von Hippel-Lindau Syndrome
Pheochromocytoma, Retinal capillary hemangioma, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Colorectal Cancer
OMIM:114500
Myeloma, Multiple
OMIM:254500

The table below shows human diseases predicted to be associated to Ccnd1 by phenotypic similarity.

Disease Similarity of
phenotypes
Matching phenotypes Source
Retinal Dysplasia, Primary
Falciform retinal fold, Retinal dysplasia OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Drusen, Reticular pigmentary degeneration OMIM:267800
Atrophia Maculosa Varioliformis Cutis, Familial
Macular atrophy OMIM:601341
Macular Degeneration, Age-Related, 11
Macular degeneration OMIM:611953
Macular Degeneration, Age-Related, 4
Macular degeneration OMIM:610698
Macular Degeneration, Age-Related, 6
Macular degeneration OMIM:613757
Macular Degeneration, Age-Related, 7
Macular degeneration OMIM:610149
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Night Blindness, Congenital Stationary, Type 1D
Congenital stationary night blindness, Attenuation of retinal blood vessels, Macular atrophy, Pig... OMIM:613830
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal degeneration, Retinal hole, Retinal fold OMIM:617572
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Widely spaced teeth, Retinal dystrophy, Attenuation of r... OMIM:616108
Exudative Vitreoretinopathy 3
Retinal exudate, Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Stargardt Disease
Retinal thinning, Abnormality of macular pigmentation, Macular degeneration, Yellow/white lesions... ORPHA:827
Filippi Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Serrated incisors, Microdontia, Frontal hir... OMIM:272440
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of the dentition, Abnormality of molar OMIM:114700
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinoschisis, Peripheral cystoid retinal degeneration, Reti... OMIM:312700
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Macrodontia, Abnormality of the temporomandibular joint, Abnorma... ORPHA:477781
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Abnormal macular morphology, Retinal pigment epithelial mottling, Choroi... ORPHA:97341
Foveal Hypoplasia 1
Hypoplasia of the fovea OMIM:136520
Microphthalmia/Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Oligodontia
Short dental root, Microdontia, Eclabion, Agenesis of maxillary lateral incisor, Taurodontia, Age... ORPHA:99798
Amelogenesis Imperfecta
Fragile teeth, Widely spaced teeth, Abnormal permanent molar morphology, Yellow-brown discolorati... ORPHA:88661
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal dystrophy, Retinal atrophy, Retinopathy, Attenua... OMIM:180210
Macular Degeneration, Age-Related, 1
Geographic atrophy, Choroidal neovascularization, Macular degeneration, Foveal hypopigmentation, ... OMIM:603075
Late-Onset Retinal Degeneration
Sub-RPE deposits, Choroidal neovascularization, Chorioretinal degeneration, Retinopathy, Retinal ... OMIM:605670
X-Linked Retinal Dysplasia
Abnormal retinal vascular morphology, Abnormality of retinal pigmentation, Retinal dysplasia ORPHA:1852
Cleft Palate, Isolated
Increased overbite, Anterior open-bite malocclusion, Gingival overgrowth, Micrognathia, Cleft palate OMIM:119540
Albinism, Oculocutaneous, Type Iv
Macular hypoplasia, Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair OMIM:606574
Florid Cemento-Osseous Dysplasia
Supernumerary tooth, Atrophy of alveolar ridges, Oral ulcer, Abnormality of primary teeth, Abnorm... ORPHA:83451
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Optic atrophy, Microphthalmia, Retinal dysplasia, Retinal atrophy, Everted lower lip vermilion, M... OMIM:253280
Neuroectodermal Melanolysosomal Disease
Premature graying of hair, Optic atrophy, Macular dystrophy, Hypopigmentation of hair, Tremor, Ab... ORPHA:33445
Familial Drusen
Granular macular appearance, Macular dystrophy, Peripapillary chorioretinal atrophy, Choroidal ne... ORPHA:75376
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Birdshot Chorioretinopathy
Abnormal chorioretinal morphology, Retinal thinning, Choroidal neovascularization, Vitritis, Cyst... ORPHA:179
Amelogenesis Imperfecta, Type Iiia
Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion OMIM:130900
Rubinstein-Taybi Syndrome 2
Narrow palate, Retrognathia, Increased overbite, Highly arched eyebrow, Hirsutism, High palate, T... OMIM:613684
Coloboma Of Macula
Macular coloboma OMIM:120300
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Anterior open-bite malocclusion, Enamel hypomineralization OMIM:617217
Cleft Lip/Palate
Orofacial cleft, Abnormal number of permanent teeth, Peg-shaped maxillary lateral incisors, Palat... ORPHA:199306
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Optic atrophy, Hypoplasia of the fovea OMIM:620086
Oculocutaneous Albinism Type 6
Abnormal foveal morphology on macular OCT, Abnormal fundus morphology, Aplasia/Hypoplasia of the ... ORPHA:370097
Liang-Wang Syndrome
Gingival overgrowth, Everted lower lip vermilion, Synophrys, Downturned corners of mouth, Macrodo... OMIM:618729
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Otodental Syndrome
Microphthalmia, Agenesis of premolar, Abnormality of canine, Delayed eruption of teeth, Periodont... ORPHA:2791
Albinism, Oculocutaneous, Type V
Albinism, Hypoplasia of the fovea OMIM:615312
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Optic atrophy, Synophrys, Widely-spaced incisors, Hypoplasia of the maxilla, Thick eyebrow, Smoot... OMIM:618737
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Auriculocondylar Syndrome 2A
Short mandibular rami, Mandibular condyle hypoplasia, Dental crowding, Temporomandibular joint an... OMIM:614669
Regional Odontodysplasia
Yellow-brown discoloration of the teeth, Eruption failure, Abnormality of primary teeth, Short de... ORPHA:83450
Trichothiodystrophy 9, Nonphotosensitive
Nail dystrophy, High, narrow palate, Tiger tail banding, Sparse eyebrow, Sparse hair, Dental malo... OMIM:619692
Cohen Syndrome
Optic atrophy, Decreased response to growth hormone stimulation test, Bone spicule pigmentation o... OMIM:216550
Hemifacial Atrophy, Progressive
Short mandibular rami, Delayed eruption of teeth, Patchy alopecia, Poliosis, Dental malocclusion,... OMIM:141300
Achromatopsia 7
Absent foveal reflex, Macular atrophy, Hypoplasia of the fovea OMIM:616517
Atkin-Flaitz Syndrome
Everted lower lip vermilion, Abnormality of the dentition, Maxillary lateral incisor microdontia,... ORPHA:1193
Dentinogenesis Imperfecta, Shields Type Iii
Anterior open-bite malocclusion, Periapical bone loss, Dentinogenesis imperfecta, Dental enamel p... OMIM:125500
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Patchy atrophy of the retinal pigment epithelium, Micrognathia, Malar flattening, Dental malocclu... ORPHA:436245
Retinitis Pigmentosa 70
Macular degeneration, Attenuation of retinal blood vessels, Retinal degeneration, Rod-cone dystro... OMIM:615922
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Abnormality of canine, Tooth malposition, Oligodontia, Narrow mouth, Talon cusp, M... ORPHA:363417
Dentin Dysplasia, Type I
Oligodontia, Short dental root, Microdontia, Enamel hypoplasia, Periapical bone loss, Pulp oblite... OMIM:125400
Temtamy Preaxial Brachydactyly Syndrome
Optic atrophy, Highly arched eyebrow, Talon cusp, Microdontia, Synophrys, Cleft palate, Diastema,... OMIM:605282
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Intellectual Developmental Disorder, Autosomal Dominant 21
Thin vermilion border, Incisor macrodontia, Narrow mouth, Long eyelashes, Cleft palate, Long phil... OMIM:615502
Achromatopsia
Inner retinal layer loss on macular OCT, Attenuation of retinal blood vessels, Hypoplasia of the ... ORPHA:49382
Bardet-Biedl Syndrome 21
Retinal thinning, Hyperautofluorescent macular lesion, Retinal atrophy, Abnormality of the dentit... OMIM:617406
Mcdonough Syndrome
Abnormal palate morphology, Short philtrum, Mandibular prognathia, Open bite, Synophrys, Microgna... ORPHA:2471
Intellectual Disability, Birk-Barel Type
High, narrow palate, Short philtrum, Highly arched eyebrow, Incisor macrodontia, Micrognathia, Te... ORPHA:166108
Stickler Syndrome Type 1
Abnormal vitreous humor morphology, Retinal detachment, Hypoplasia of the maxilla, Cleft palate, ... ORPHA:90653
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204700
Cherubism
Narrow palate, Marcus Gunn pupil, Oligodontia, Optic neuropathy, Jaw swelling, Dental malocclusio... OMIM:118400
Clark-Baraitser syndrome
Thick lower lip vermilion, Prominent median palatal raphe, Exaggerated median tongue furrow, Maxi... OMIM:300602
Mulibrey Nanism
Absent frontal sinuses, Dental crowding, Hypoplastic frontal sinuses, Enamel hypoplasia, Microglo... OMIM:253250
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Asteroid hyalosis, Cystoid macular edema, Optic disc dru... OMIM:600059
Intellectual Developmental Disorder, Autosomal Dominant 70
Retrognathia, Retinal telangiectasia, Retinal detachment, Optic nerve hypoplasia, Mandibular prog... OMIM:620157
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Incisor macrodontia, Thin upper lip vermilion, Widely-spaced maxillary centr... OMIM:619719
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dental Anomalies And Short Stature
Amelogenesis imperfecta, Widely spaced teeth, Mandibular prognathia, Oligodontia, Microdontia, Hy... OMIM:601216
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 25, Autosomal Dominant
Retinal detachment OMIM:617238
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Amelogenesis Imperfecta, Type Ic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:204650
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
High anterior hairline, Notched primary central incisor, Sparse scalp hair, Hydrocele testis OMIM:620062
Oculocutaneous Albinism, Type Viii
Chorioretinal hypopigmentation, Hypoplasia of the fovea, Hypopigmentation of hair OMIM:619165
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Dental malocclusion OMIM:618292
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair OMIM:113750
Foveal Hypoplasia 2
Hypoplasia of the fovea, Optic nerve misrouting, Microphthalmia, Foveal hyperpigmentation OMIM:609218
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Nail dystrophy, Yellow nails, Conical incisor, Sparse lateral eyebrow, Carious teeth, Enamel hypo... OMIM:614564
Tricho-Dento-Osseous Syndrome
Agenesis of incisor, Periapical tooth abscess, Widely spaced teeth, Abnormal hair quantity, Micro... ORPHA:3352
Amelogenesis Imperfecta, Type Ih
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:616221
Craniosynostosis 3
Dental malocclusion, Low anterior hairline OMIM:615314
Ichthyosis, Congenital, Autosomal Recessive 11
Curly eyelashes, Brittle hair, Conical primary incisor, Curly hair, Hypohidrosis, Sparse eyelashe... OMIM:602400
Oculodentodigital Dysplasia, Autosomal Recessive
Thin vermilion border, Hypoplasia of the primary teeth, Microphthalmia, Delayed eruption of teeth... OMIM:257850
Developmental And Epileptic Encephalopathy 66
Widely spaced teeth, Everted lower lip vermilion, Synophrys, Downturned corners of mouth, Wide mo... OMIM:618067
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Retinal dots, Optically empty vitreous, Snowflake vitreoretinal degeneration OMIM:193230
Auriculocondylar Syndrome 1
Anterior open-bite malocclusion, Mandibular condyle hypoplasia, Dental crowding, Glossoptosis, Na... OMIM:602483
Intermediate Osteopetrosis
Optic atrophy from cranial nerve compression, Abnormality of the dentition, Abnormal dental morph... ORPHA:210110
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Odontotrichoungual-Digital-Palmar Syndrome
Nail dystrophy, Mandibular prognathia, Abnormality of hair texture, Natal tooth, Thick vermilion ... OMIM:601957
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion... OMIM:612529
Split-Hand/Foot Malformation 3
Nail dystrophy, High palate, Narrow mouth, Hypoplasia of the maxilla, Cleft palate, Microretrogna... OMIM:246560
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Abnormality of the dentition, Dental malocclusion ORPHA:1858
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Retinal fold, Intraretinal exudate, Peripheral vitreous opacities, Exudative ... OMIM:305390
Marshall Syndrome
Abnormal vitreous humor morphology, Thick lower lip vermilion, Retinal detachment, Vitreoretinopa... ORPHA:560
Rapp-Hodgkin Syndrome
Nail dystrophy, Decreased number of sweat glands, Microdontia, Bifid uvula, Sparse hair, Small, c... OMIM:129400
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Synophrys OMIM:615541
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Hypomandibular Faciocranial Dysostosis
Hypoplasia of the maxilla, Micrognathia, Malar flattening, Optic disc coloboma, Aglossia, Pursed ... OMIM:241310
Chromosome 3Pter-P25 Deletion Syndrome
Retrognathia, Thin vermilion border, Highly arched eyebrow, High palate, Synophrys, Micrognathia,... OMIM:613792
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Optic atrophy, Microphthalmia, Scarring alopecia of scalp, Conical tooth, Oligodontia, Microdonti... OMIM:618727
Amelogenesis Imperfecta, Type Ie
Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp... OMIM:301200
Nance-Horan Syndrome
Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped incisors, Mulberry molar, Dia... OMIM:302350
Amelogenesis Imperfecta, Type Ia
Amelogenesis imperfecta, Enamel hypoplasia, Generalized microdontia, Dental enamel pits, Taurodontia OMIM:104530
Cowden Syndrome 5
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention... OMIM:615108
Maxillonasal Dysplasia
Mandibular prognathia, Open bite, Microdontia, Tooth agenesis, Hypoplasia of the maxilla, Cleft p... ORPHA:1248
Momo Syndrome
Thick lower lip vermilion, Delayed eruption of teeth, High palate, Retinal coloboma, Smooth philt... OMIM:157980
Aland Island Eye Disease
Hypopigmentation of the fundus, Hypoplasia of the fovea OMIM:300600
Potocki-Lupski Syndrome
Dental crowding, Mandibular prognathia, High palate, Hypothyroidism, Micrognathia, Wide mouth, Sm... OMIM:610883
Blepharophimosis-Impaired Intellectual Development Syndrome
Widely spaced teeth, Short philtrum, Highly arched eyebrow, Exaggerated cupid's bow, Sparse scalp... OMIM:619293
Exudative Vitreoretinopathy 1
Posterior vitreous detachment, Retinal exudate, Retinal detachment, Vitreous floaters, Ectopic fo... OMIM:133780
Fanconi Anemia, Complementation Group S
Narrow palate, Microphthalmia, Ovarian neoplasm, Dental malocclusion, Long eyelashes, Thick upper... OMIM:617883
Lowry-Maclean Syndrome
Retrognathia, High, narrow palate, Generalized hypertrichosis, Talon cusp, Bilateral cryptorchidi... ORPHA:2409
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Thick vermilion border, Macrodontia of permanent maxillary central incisor, Open mouth, Exaggerat... OMIM:620114
Alpha-Mannosidosis
Narrow palate, Widely spaced teeth, Craniofacial hyperostosis, Mandibular prognathia, Open bite, ... ORPHA:61
Odontoonychodermal Dysplasia
Dystrophic fingernails, Conical incisor, Smooth tongue, Abnormality of primary teeth, Dystrophic ... OMIM:257980
X-Linked Intellectual Disability, Sutherland-Haan Type
Hypoplasia of the maxilla, Mandibular prognathia, Decreased testicular size ORPHA:93950
Cowden Syndrome 6
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention... OMIM:615109
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Beaulieu-Boycott-Innes Syndrome
High anterior hairline, Premature ovarian insufficiency, Endometriosis, Carious teeth, Micrognath... OMIM:613680
Ă…land Islands Eye Disease
Hypopigmentation of the fundus, Hypoplasia of the fovea ORPHA:178333
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Thin vermilion border, Premature loss of teeth, Short philtrum OMIM:156510
Mandibulofacial Dysostosis With Alopecia
Dental crowding, Glossoptosis, Everted lower lip vermilion, Hypoplasia of the maxilla, Sparse eye... OMIM:616367
Acrootoocular Syndrome
Supernumerary tooth, Grayish enamel, Decreased response to growth hormone stimulation test, High,... ORPHA:2980
Camptodactyly Syndrome, Guadalajara Type 1
Highly arched eyebrow, Mandibular prognathia, Open bite, High palate, Narrow mouth, Synophrys, Do... ORPHA:1327
Microcephaly, Amish Type
Optic atrophy, Micrognathia, Hypoplasia of the fovea OMIM:607196
Marshall Syndrome
Thick lower lip vermilion, Retinal detachment, Absent frontal sinuses, Vitreoretinopathy, Microgn... OMIM:154780
X-Linked Intellectual Disability, Porteous Type
Hypoplasia of the maxilla, Mandibular prognathia, Frontal balding, Short philtrum ORPHA:93945
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Short philtrum, Mandibular prognathia, Short upper lip, Malar flattening, Thick ve... ORPHA:364028
Oculocutaneous Albinism Type 1
Optic nerve misrouting, Abnormal morphology of the choroidal vasculature, Depigmented fundus, Abn... ORPHA:352731
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea OMIM:264270
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Broad eyebrow, Synophrys OMIM:618302
Cohen Syndrome
Microphthalmia, Tooth agenesis, Optic atrophy, Short philtrum, Abnormality of the dentition, Abno... ORPHA:193
Frontonasal Dysplasia 1
Microphthalmia, Widely-spaced maxillary central incisors, Median cleft palate, Hypoplastic fronta... OMIM:136760
Autosomal Recessive Spastic Paraplegia Type 77
Retrognathia, Paroxysmal dystonia, Bilateral cryptorchidism, Intention tremor, Dystonia, Macrodon... ORPHA:466722
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Optic atrophy, High palate, Micrognathia, Low anterior hairline, Dental malocclusion, Deep philtr... ORPHA:329178
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Abnormal palate morphology, Malar flattening, Hypoplasia of the maxilla ORPHA:93262
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Abnormality of primary teeth, Incisor macrodontia, High palate, Exaggerated startle response, Dys... ORPHA:438216
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Patchy alopecia, Hypoplasia of the maxilla, Decreased testicular size, Cryptorchidism ORPHA:85279
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Cri-Du-Chat Syndrome
Optic atrophy, Premature graying of hair, Orofacial cleft, Thick lower lip vermilion, Short philt... OMIM:123450
Lujan-Fryns Syndrome
Short philtrum, Dental crowding, High palate, Abnormality of the dentition, Hypoplasia of the max... ORPHA:776
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Van Der Woude Syndrome 2
Cleft upper lip, Cleft palate, Anodontia, Hypodontia, Dental malocclusion, Lip pit OMIM:606713
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Hypoplasia of the maxilla, Mandibular prognathia, Crowded maxillary incisors ORPHA:397973
Incontinentia Pigmenti
Optic atrophy, Breast hypoplasia, Nail dystrophy, Microphthalmia, Delayed eruption of teeth, Reti... OMIM:308300
Tooth Agenesis, Selective, 4
Dystrophic fingernails, Peg-shaped maxillary lateral incisors, Abnormality of primary teeth, Dyst... OMIM:150400
Orofaciodigital Syndrome Type 2
Central retinal vessel vascular tortuosity, Thick hair, Peg-shaped maxillary lateral incisors, Hi... ORPHA:2751
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Thick lower lip vermilion, Everted lower lip vermilion, Abnormality of the dentition, Hypothyroid... ORPHA:85321
Momo Syndrome
Bilateral microphthalmos, Thick lower lip vermilion, Delayed eruption of teeth, High palate, Thic... ORPHA:2563
Congenital Syphilis
Optic atrophy, Pancreatitis, Chorioretinitis, Notched primary central incisor, High palate, Semil... ORPHA:499009
Familial Benign Copper Deficiency
Short stature, Aplasia/Hypoplasia of the fovea, Early balding ORPHA:1551
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Open mouth, Long philtrum, Prominence of the premaxilla, Deep philtrum OMIM:137550
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia ORPHA:2185
Hypohidrotic Ectodermal Dysplasia
Trichorrhexis nodosa, Breast aplasia, Slow-growing hair, Abnormal hair quantity, Abnormality of t... ORPHA:238468
Cowden Syndrome 1
Angioid streaks of the fundus, Thyroiditis, High palate, Furrowed tongue, Narrow mouth, Intention... OMIM:158350
Aarskog-Scott Syndrome
Orofacial cleft, High anterior hairline, Delayed eruption of teeth, Everted lower lip vermilion, ... ORPHA:915
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of premolar, Agenesis of molar, Aplasia of the maxilla, Oligodontia, Selective tooth age... OMIM:313500
Malan Syndrome
Retrognathia, Advanced eruption of teeth, Mandibular prognathia, Gingival overgrowth, Narrow mout... OMIM:614753
Hallermann-Streiff Syndrome
Microphthalmia, Everted lower lip vermilion, Sparse hair, Fine hair, Narrow palate, Selective too... OMIM:234100
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Retrognathia, High anterior hairline, Premature ovarian insufficiency, Endometriosis, Thin lower ... ORPHA:363444
Albinism, Oculocutaneous, Type Ii
Red hair, Hypopigmentation of hair, Hypoplasia of the fovea, Hypopigmentation of the fundus, Albi... OMIM:203200
Muenke Syndrome
Dental malocclusion, High palate, Low anterior hairline, Malar flattening OMIM:602849
Isolated Aniridia
Aplasia/Hypoplasia of the macula, Aniridia ORPHA:250923
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Narrow mouth, Malar flattening ORPHA:261295
Sclerosteosis 1
Optic atrophy, Tooth malposition, Mandibular prognathia, Papilledema, Malar flattening, Facial pa... OMIM:269500
Zimmermann-Laband Syndrome
Supernumerary tooth, Gingival fibromatosis, Anterior open-bite malocclusion, Generalized hypertri... ORPHA:3473
Developmental And Epileptic Encephalopathy 83
High anterior hairline, Highly arched eyebrow, Synophrys, Hypoplasia of the fovea, Long philtrum OMIM:618744
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Mandibular condyle hypoplasia, Dental crowding, Gloss... ORPHA:137888
Acrodysostosis 1 With Or Without Hormone Resistance
Optic atrophy, Decreased growth hormone responses to growth hormone-releasing hormone challenge, ... OMIM:101800
Pycnodysostosis
Decreased response to growth hormone stimulation test, Obtuse angle of mandible, High palate, Abn... ORPHA:763
Robinow Syndrome, Autosomal Dominant 2
Calvarial osteosclerosis, Triangular mouth, Cleft soft palate, Dental crowding, Oligodontia, Ging... OMIM:616331
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Tiger tail banding, Coarse hair OMIM:616390
Craniolenticulosutural Dysplasia
Thin vermilion border, Delayed eruption of teeth, Brittle hair, Premature loss of teeth, High pal... ORPHA:50814
Coffin-Lowry Syndrome
Optic atrophy, Narrow palate, Advanced eruption of teeth, Thick lower lip vermilion, Widely space... ORPHA:192
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Everted upper lip vermilion, Everted lower lip vermilion, Microdontia, Aplasia/Hypoplastia of the... OMIM:305100
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Hypoplasia of the maxilla, Mandibular prognathia, High palate OMIM:300676
Crouzon Syndrome
Optic atrophy, Narrow palate, Hypoplasia of the maxilla ORPHA:207
Trichorhinophalangeal Syndrome, Type I
Narrow palate, Leukonychia, Dental malocclusion, Delayed eruption of teeth, Slow-growing hair, Sp... OMIM:190350
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, High palate, Bifid uvula, Hypodontia, Dental malocclusion OMIM:612350
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors, Microdontia, Micrognathia OMIM:610706
Lessel-Kreienkamp Syndrome
Dental malocclusion, Thin upper lip vermilion, Open mouth OMIM:619149
Angelman Syndrome
Widely spaced teeth, Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Limb tr... OMIM:105830
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Tremor, High palate, Hypoplasia of the maxilla, Limb tremor, Low anterior hairline OMIM:218000
Barber-Say Syndrome
Thin vermilion border, Widely spaced teeth, Delayed eruption of teeth, Mandibular prognathia, Hyp... OMIM:209885
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Sparse axillary hair, Sparse facial hair OMIM:608154
Cardioacrofacial Dysplasia 1
Short philtrum, Conical tooth, Hypoplasia of the maxilla, Accessory oral frenulum, Diastema OMIM:619142
Intellectual Disability, Buenos-Aires Type
Dental malocclusion, Mandibular prognathia, Open bite, High palate, Abnormal dental morphology, F... ORPHA:3079
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Oculocutaneous Albinism Type 5
High palate, Abnormal fundus morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:370091
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Cleft palate, Abnormal hair whorl, Hypoplasia of the maxilla OMIM:614261
Cockayne Syndrome A
Optic atrophy, Dry hair, Irregular menstruation, Mandibular prognathia, Retinal atrophy, Tremor, ... OMIM:216400
Dislocation Of The Hip-Dysmorphism Syndrome
Narrow mouth, Abnormal palate morphology, Prominence of the premaxilla, Malar flattening ORPHA:2412
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Narrow palate, Retrognathia, Delayed eruption of teeth, Conical incisor, Oligodontia, Hirsutism, ... OMIM:235510
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1
Hypoplasia of the maxilla, Micrognathia, Decreased pineal volume, Microphthalmia OMIM:301108
Nephronophthisis 9
Postnatal growth retardation, Retinal degeneration OMIM:613824
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Crouzon Syndrome
Optic atrophy, Dental crowding, Mandibular prognathia, High palate, Hypoplasia of the maxilla, Dy... OMIM:123500
Oculocutaneous Albinism Type 4
Optic nerve misrouting, Hypopigmentation of hair, White hair, Abnormality of retinal pigmentation... ORPHA:79435
Myopathy, Myofibrillar, 8
Micrognathia, High palate, Dental malocclusion OMIM:617258
Takenouchi-Kosaki Syndrome
Optic atrophy, Widely spaced teeth, Short philtrum, Highly arched eyebrow, Synophrys, Sparse eyeb... OMIM:616737
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Nail dystrophy, Widely spaced teeth, Conical tooth, Absent eyelashes, Selective tooth agenesis, P... OMIM:106260
8Q22.1 Microdeletion Syndrome
Highly arched eyebrow, Abnormality of the dentition, Hypoplasia of the maxilla, Sparse eyelashes,... ORPHA:178303
Martin-Probst Syndrome
Thick lower lip vermilion, Hypoplastic nipples, Hypothyroidism, Micrognathia, Chordee, Wide mouth... OMIM:300519
Elsahy-Waters Syndrome
Supernumerary tooth, Agenesis of incisor, Thick lower lip vermilion, Delayed eruption of teeth, M... OMIM:211380
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hashimoto thyroiditis, Hypothyroidism, Goiter ORPHA:83601
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Highly arched eyebrow, Absent eyelashes, Hypoplasia of the maxilla, Thick eyebrow, Thick vermilio... ORPHA:228396
Nasopalpebral Lipoma-Coloboma Syndrome
Hypoplasia of the maxilla, Sparse eyebrow, Microphthalmia, Widow's peak OMIM:167730
Hamamy Syndrome
Abnormal number of hair whorls, Hypoparathyroidism, Hypodontia, High palate, Everted lower lip ve... OMIM:611174
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Retinal thinning, Microphthalmia, Abnormality of macular pigmentation, Retinal atrophy, Cone/cone... OMIM:608940
Orofacial Cleft 15
High anterior hairline, Palate fistula, Bilateral cleft palate, Distichiasis, Sparse eyelashes, S... OMIM:616788
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Dental malocclusion, Short philtrum, Dental crowding, High palate, Abnormality of the dentition, ... ORPHA:251028
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microdontia, Hypoplasia of the maxilla, Cleft palate, Microretrognathi... ORPHA:1307
Axenfeld-Rieger Syndrome
Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Hypodontia, Aplasia/Hypoplas... ORPHA:782
Axenfeld-Rieger Syndrome, Type 2
Short philtrum, Mandibular prognathia, Everted lower lip vermilion, Microdontia, Hypoplasia of th... OMIM:601499
Progeria-Short Stature-Pigmented Nevi Syndrome
Fragile teeth, Premature ovarian insufficiency, Neoplasm of the pancreas, Selective tooth agenesi... ORPHA:2959
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities
Coarse hair, Nail dystrophy, High anterior hairline, Woolly scalp hair, Notched primary central i... OMIM:620519
Oculoauricular Syndrome
Short mandibular rami, Microphakia, Microphthalmia, Retinal detachment, Chorioretinal atrophy, Re... OMIM:612109
Autosomal Dominant Keratitis
Bilateral microphthalmos, Aniridia, Hypoplastic iris stroma, Hypoplasia of the fovea, Macular hyp... ORPHA:2334
Keipert Syndrome
Hypoplasia of the maxilla, Exaggerated cupid's bow, Tented upper lip vermilion ORPHA:2662
Cerebellofaciodental Syndrome
Cryptorchidism, Sparse eyebrow, Dental malocclusion, Fine hair, Macrodontia of permanent maxillar... OMIM:616202
Jackson-Weiss Syndrome
Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia ORPHA:1540
Linear Verrucous Nevus Syndrome
Retinopathy, Aplasia/Hypoplasia of the fovea, Sparse scalp hair ORPHA:2611
Holoprosencephaly 9
Microphthalmia, Solitary median maxillary central incisor, Optic nerve hypoplasia, Bilateral clef... OMIM:610829
Meier-Gorlin Syndrome 4
Breast hypoplasia, Thick lower lip vermilion, Narrow mouth, Hypoplasia of the maxilla, Micrognath... OMIM:613804
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Short philtrum, Dental crowding, High palate, Hypoplasia of the maxilla, Micrognathia, Deep philt... OMIM:309520
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, High palate, Enamel hypoplasia, Micrognathia, Cleft pa... OMIM:210600
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Anterior open-bite malocclusion, Dental crowding, High palate, Everted lower lip vermilion, Synop... OMIM:617877
Cerebellar-Facial-Dental Syndrome
Cryptorchidism, Micrognathia, Sparse eyebrow, Sparse hair, Long philtrum, Dental malocclusion, Fi... ORPHA:444072
Cardiofaciocutaneous Syndrome 1
Optic nerve dysplasia, Slow-growing hair, Absent eyelashes, Open bite, High palate, Abnormality o... OMIM:115150
Treacher-Collins Syndrome
Retrognathia, Microphthalmia, Thyroid hypoplasia, Glossoptosis, Tooth agenesis, Wide mouth, Abnor... ORPHA:861
Myopathy, Centronuclear, X-Linked
Dental malocclusion, Cryptorchidism, High palate OMIM:310400
Andersen Cardiodysrhythmic Periodic Paralysis
Short mandibular rami, Prominent frontal sinuses, Dental crowding, Oligodontia, High palate, Pers... OMIM:170390
Three M Syndrome 2
Delayed eruption of teeth, High palate, Malar flattening, Thick vermilion border, Long philtrum, ... OMIM:612921
Dihydropyrimidine Dehydrogenase Deficiency
Retrognathia, Abnormal social behavior, Delayed eruption of teeth, High palate, Long eyelashes, S... ORPHA:1675
Nager Syndrome
Abnormal palate morphology, Non-midline cleft of the upper lip, Hypoplasia of the maxilla, Microg... ORPHA:245
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Abnormal vitreous humor morphology, Aniridia, Anophthalmia, Mandibular progn... ORPHA:1101
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Microphthalmia, Abnormality of canine, Oligodontia, Exaggerated cupid's bow, Long upper lip, Ever... ORPHA:364577
Short Syndrome
Delayed eruption of teeth, Rieger anomaly, Micrognathia, Downturned corners of mouth, Ovarian cys... OMIM:269880
Pde4D Haploinsufficiency Syndrome
Short philtrum, Abnormal dental enamel morphology, Mandibular prognathia, Hypoplasia of the maxil... ORPHA:439822
Distal Xq28 Microduplication Syndrome
Thick lower lip vermilion, Dental crowding, Short lingual frenulum, High palate, Hypoplasia of th... ORPHA:293939
Cockayne Syndrome B
Optic atrophy, Dry hair, Microphthalmia, Abnormal hair morphology, Mandibular prognathia, Tremor,... OMIM:133540
Ectodermal Dysplasia And Immunodeficiency 1
Conical incisor, Aplasia of the eccrine sweat glands, Sparse hair OMIM:300291
Phelan-Mcdermid Syndrome
Widely spaced teeth, High palate, Long eyelashes, Hypohidrosis, Micrognathia, Thick eyebrow, Mala... OMIM:606232
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Breast aplasia, Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size, Elev... ORPHA:3044
Van Maldergem Syndrome 2
High anterior hairline, Hypoplastic nipples, High palate, Irregular dentition, Hypoplasia of the ... OMIM:615546
Larsen-Like Syndrome
Dental malocclusion, Cleft palate, Malar flattening OMIM:608545
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, Mandibular prognathia, High palate, Patchy alopecia, Furrowed tongue, Hypoplasia ... OMIM:300534
Albinism, Ocular, Type I
Hypoplasia of the fovea, Depigmented fundus, Ocular albinism OMIM:300500
Oliver Syndrome
Short philtrum, Mandibular prognathia, High palate, Thick eyebrow, Dental malocclusion, Supernume... ORPHA:2920
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Harrod Syndrome
Narrow mouth, Dental malocclusion, Cryptorchidism, High palate ORPHA:2115
Hermansky-Pudlak Syndrome 4
Menorrhagia, Albinism, Hypoplasia of the fovea, Ocular albinism OMIM:614073
Oculocutaneous Albinism Type 1A
Hypopigmentation of hair, Abnormal optic nerve morphology, Abnormality of visual evoked potential... ORPHA:79431
Ellis Van Creveld Syndrome
Thin vermilion border, Abnormal hair morphology, Conical incisor, Abnormal hair quantity, Delayed... ORPHA:289
Cockayne Syndrome
Microphthalmia, Retinal atrophy, Agenesis of permanent teeth, Action tremor, Fine hair, Delayed e... ORPHA:191
Kabuki Syndrome 2
Highly arched eyebrow, Hirsutism, High palate, Long eyelashes, Sparse lateral eyebrow, Micrognath... OMIM:300867
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Microdontia of primary teeth, Decreased response to growth hormone stimulation test, Highly arche... OMIM:213980
Carpenter Syndrome 1
Optic atrophy, High palate, Persistence of primary teeth, Hypoplasia of the maxilla, Agenesis of ... OMIM:201000
Dysostosis, Stanescu Type
Abnormal palate morphology, Abnormal dental enamel morphology, Abnormality of the dentition, Toot... ORPHA:1798
Arthrogryposis, Distal, Type 12
Agenesis of maxillary incisor, Dental crowding, High palate, Palmar hyperhidrosis, Cryptorchidism... OMIM:620545
Recon Progeroid Syndrome
Thin vermilion border, Dental crowding, Hirsutism, Smooth philtrum, Delayed eruption of permanent... OMIM:620370
Aarskog-Scott Syndrome
Bilateral cryptorchidism, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Elevated circ... OMIM:305400
Noonan Syndrome 4
High anterior hairline, Curly hair, Sparse eyebrow, Wide mouth, Thick vermilion border, Dental ma... OMIM:610733
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Rieger anomaly, Malar flattening OMIM:109120
Nablus Mask-Like Facial Syndrome
Retrognathia, Highly arched eyebrow, Absent eyelashes, Hypoplastic nipples, High palate, Everted ... OMIM:608156
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
High, narrow palate, Optic nerve hypoplasia, Abnormality of primary teeth, Open bite, Macroglossi... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
High, narrow palate, Optic nerve hypoplasia, Abnormality of primary teeth, Open bite, Macroglossi... ORPHA:352665
Aicardi Syndrome
Optic atrophy, Microphthalmia, Short philtrum, Retinal detachment, Sparse lateral eyebrow, Cleft ... ORPHA:50
Mandibulofacial Dysostosis-Microcephaly Syndrome
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening, Accessory oral frenulum ORPHA:79113
Orofaciodigital Syndrome Ii
High palate, Agenesis of central incisor, Hypoplasia of the maxilla, Micrognathia, Cleft palate, ... OMIM:252100
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Long philtrum, Thin vermilion border, Conical incisor, Abnormality of hair texture, Synophrys, Ma... ORPHA:73223
Hermansky-Pudlak Syndrome 11
Gingival bleeding, Menorrhagia, Hypoplasia of the fovea, Albinism, Fair hair, Ocular albinism OMIM:619172
Acrodysostosis
Delayed eruption of teeth, Mandibular prognathia, Open bite, Hypoplasia of the maxilla, Hypogonad... ORPHA:950
Apert Syndrome
Optic atrophy, Narrow palate, Ovarian neoplasm, Delayed eruption of teeth, Mandibular prognathia,... ORPHA:87
7Q11.23 Microduplication Syndrome
Retrognathia, Thin vermilion border, Short philtrum, Short lingual frenulum, High palate, Abnorma... ORPHA:96121
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Micrognathia, Cleft palate, Malar flattening OMIM:108721
Mccune-Albright Syndrome
Decreased fertility, Pancreatitis, Abnormal facial skeleton morphology, Dental malocclusion, Irre... ORPHA:562
Martsolf Syndrome 1
Microphthalmia, Short philtrum, Tooth malposition, High palate, Low posterior hairline, Hypoplasi... OMIM:212720
Bosma Arhinia Microphthalmia Syndrome
Microphthalmia, High palate, Synophrys, Cleft lip, Hypoplasia of teeth, Paranasal sinus hypoplasi... OMIM:603457
Van Maldergem Syndrome 1
High palate, Irregular dentition, Hypoplasia of the maxilla, Micrognathia, Downturned corners of ... OMIM:601390
Saethre-Chotzen Syndrome
Optic atrophy, Narrow palate, Open bite, Blepharospasm, Hypoplasia of the maxilla, Cleft palate, ... ORPHA:794
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Micrognathia, Malar flattening, Dental malocclusion OMIM:608257
Vici Syndrome
Everted upper lip vermilion, Hypopigmentation of hair, High palate, Median cleft palate, Cleft up... OMIM:242840
Microphthalmia, Syndromic 2
Supernumerary tooth, Microphthalmia, Radiculomegaly, Delayed eruption of teeth, Retinal detachmen... OMIM:300166
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Absent frontal sinuses, Hirsutism, Selective tooth agenesis, High pala... OMIM:305620
Premature Aging Syndrome, Penttinen Type
Retrognathia, Microphthalmia, Thin vermilion border, Delayed eruption of teeth, Narrow philtrum, ... OMIM:601812
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Narrow palate, Supernumerary tooth, Dental crowding, Talon cusp, Retinopathy, Carious teeth, Nata... ORPHA:353281
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Localized Scleroderma
Abnormal facial skeleton morphology, Patchy alopecia, Short dental root, Abnormality of the denti... ORPHA:90289
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Thin vermilion border, Broad eyebrow, High palate, Hypoplasia of the maxilla, Smooth philtrum, Lo... ORPHA:481152
Andersen-Tawil Syndrome
Abnormality of dental color, Dental crowding, Oligodontia, High palate, Abnormality of the dentit... ORPHA:37553
Nestor-Guillermo Progeria Syndrome
Thin vermilion border, Nail dystrophy, Dental malocclusion, Dental crowding, Sparse scalp hair, S... OMIM:614008
Gorlin-Chaudhry-Moss Syndrome
Oligodontia, Abnormality of the dentition, Hypoplasia of the maxilla, Generalized hirsutism, Low ... ORPHA:2095
Frontorhiny
Microphthalmia, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Bifid tongue, Cleft palat... ORPHA:391474
Oculocutaneous Albinism Type 1B
Hypopigmentation of hair, Abnormal optic nerve morphology, Abnormality of retinal pigmentation, H... ORPHA:79434
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Bilateral microphthalmos, Abnormal eyelash morphology, Hypoplasia of the maxilla,... ORPHA:2399
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Carious teeth, Dental malocclusion, Microretrognathia OMIM:615560
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Optic nerve compression OMIM:259730
Congenital Myopathy 17
Mandibular prognathia, High palate, Cleft palate, Tented upper lip vermilion, Smooth philtrum, Na... OMIM:618975
Peroxisome Biogenesis Disorder 12A (Zellweger)
Prominence of the premaxilla, Abnormality of the hairline, Cholelithiasis OMIM:614886
Hermansky-Pudlak Syndrome 5
Menorrhagia, Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism OMIM:614074
Kagami-Ogata Syndrome
Retrognathia, Hypoplasia of the maxilla, Frontal hirsutism, Micrognathia, Long philtrum OMIM:608149
Rubinstein-Taybi Syndrome 1
Retrognathia, Highly arched eyebrow, Dental crowding, Low posterior hairline, Narrow palate, Hirs... OMIM:180849
Robinow Syndrome, Autosomal Dominant 3
Triangular mouth, Gingival overgrowth, Cryptorchidism, Long eyelashes, Cleft lip, Micrognathia, C... OMIM:616894
Congenital Sialidosis Type 2
Optic atrophy, Yellow/white lesions of the retina, Generalized hypertrichosis, Gingival overgrowt... ORPHA:93400
Dyskeratosis Congenita
Premature graying of hair, Nail dystrophy, Neoplasm of the pancreas, Periodontitis, Alopecia, Abn... ORPHA:1775
Chediak-Higashi Syndrome
Hypopigmentation of hair, Silver-gray hair, Periodontitis, Tremor, Gingivitis, Macular hypoplasia... OMIM:214500
Marshall-Smith Syndrome
Short mandibular rami, Retrognathia, Short philtrum, Brittle hair, Highly arched eyebrow, Optic n... OMIM:602535
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Optic atrophy, Widely spaced teeth, Short philtrum, Highly arched eyebrow, Synophrys, Sparse eyeb... ORPHA:487796
Schwartz-Jampel Syndrome
Supernumerary tooth, Long philtrum, Narrow mouth, Everted lower lip vermilion, Distichiasis, High... ORPHA:800
Arboleda-Tham Syndrome
Optic atrophy, Short philtrum, Peg-shaped maxillary lateral incisors, Highly arched eyebrow, Mand... OMIM:616268
Microphthalmia With Limb Anomalies
Optic atrophy, Thin vermilion border, Microphthalmia, True anophthalmia, High palate, Hypoplasia ... ORPHA:1106
Jacobsen Syndrome
Optic atrophy, U-Shaped upper lip vermilion, Annular pancreas, Microphthalmia, Abnormal eyelash m... OMIM:147791
Au-Kline Syndrome
Retrognathia, Oligodontia, High palate, Sparse lateral eyebrow, Downturned corners of mouth, Bifi... OMIM:616580
Branchioskeletogenital Syndrome
Thin vermilion border, Short philtrum, Highly arched eyebrow, Rootless teeth, Mandibular prognath... ORPHA:1299
Achromatopsia 2
Retinal thinning, Peripapillary atrophy, Hypoplasia of the fovea, Absent foveal reflex, Dull fove... OMIM:216900
W Syndrome
Upper lip pit, Submucous cleft hard palate, Broad uvula, Abnormality of the scalp hair, Agenesis ... ORPHA:2804
Doors Syndrome
Optic atrophy, Narrow palate, Widely spaced teeth, Thick lower lip vermilion, Broad alveolar ridg... ORPHA:79500
3Mc Syndrome 2
Torticollis, Highly arched eyebrow, High palate, Cleft upper lip, Downturned corners of mouth, Cl... OMIM:265050
Aicardi Syndrome
Optic atrophy, Microphthalmia, Retinal detachment, Sparse lateral eyebrow, Cleft upper lip, Cleft... OMIM:304050
Geroderma Osteodysplasticum
Abnormal hair morphology, Periodontitis, Mandibular prognathia, Abnormality of the dentition, Hyp... OMIM:231070
Stickler Syndrome
Advanced eruption of teeth, Abnormal vitreous humor morphology, Retinal detachment, Abnormal dent... ORPHA:828
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Optic nerve hypoplasia, Optic disc hypoplasia, Hypoplasia of the anter... ORPHA:79345
Meier-Gorlin Syndrome 5
Hypoplasia of the maxilla, Micrognathia, Thick vermilion border, Long philtrum, Submucous cleft h... OMIM:613805
Shprintzen-Goldberg Craniosynostosis Syndrome
Narrow palate, High palate, Hypoplasia of the maxilla, Micrognathia, Dental malocclusion, Cryptor... OMIM:182212
Apert Syndrome
Narrow palate, Delayed eruption of teeth, Mandibular prognathia, Hyperhidrosis, Bifid uvula, Mala... OMIM:101200
Multiple Pterygium Syndrome, Escobar Variant
Triangular mouth, Hypoplastic nipples, High palate, Narrow mouth, Micrognathia, Cleft palate, Dow... OMIM:265000
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Myhre Syndrome
Thin vermilion border, Gingival cleft, Craniofacial hyperostosis, Abnormal lip morphology, Mandib... ORPHA:2588
Robinow Syndrome
Orofacial cleft, High anterior hairline, Triangular mouth, Tooth malposition, Hypodontia, Broad a... ORPHA:97360
Hajdu-Cheney Syndrome
Absent frontal sinuses, Premature loss of teeth, Hirsutism, High palate, Narrow mouth, Long eyela... OMIM:102500
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Nail dystrophy, Microdontia, Sparse axillary hair, Decreased response to growth hormone stimulati... OMIM:604292
Pfeiffer Syndrome
Hypoplasia of the maxilla, Dental crowding, Mandibular prognathia, High palate OMIM:101600
Meier-Gorlin Syndrome 3
Breast hypoplasia, Narrow mouth, Hypoplasia of the maxilla, Micrognathia, Sparse pubic hair, Thic... OMIM:613803
Spondyloenchondrodysplasia
Hypothyroidism, Dental malocclusion, Decreased response to growth hormone stimulation test, Delay... ORPHA:1855
Peters-Plus Syndrome
Bilobate gallbladder, Thin vermilion border, Widely spaced teeth, Conical incisor, Short lingual ... OMIM:261540
Aniridia 1
Aniridia, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmentation, Hypopla... OMIM:106210
Chand Syndrome
Agenesis of maxillary incisor, Curly hair, Hypohidrosis, Abnormal oral frenulum morphology, Commi... ORPHA:1401
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Microdontia, Sparse axillary hair, Sparse hair, Decreased response to growth hormone stimulation ... OMIM:129900
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Long philtrum, Wide mouth, Torticollis ORPHA:251061
Mend Syndrome
High palate, Micrognathia, Microretrognathia, Smooth philtrum, Cryptorchidism, Macular hypoplasia OMIM:300960
Faciodigitogenital Syndrome, Autosomal Recessive
Narrow palate, High palate, Wide mouth, Trismus, Dental malocclusion, Cryptorchidism, Deep philtr... OMIM:227330
Hermansky-Pudlak Syndrome 8
Silver-gray hair, Gingival bleeding, Menorrhagia, Hypoplasia of the fovea, Albinism, Optic disc p... OMIM:614077
Ctcf-Related Neurodevelopmental Disorder
Thin vermilion border, Short philtrum, Highly arched eyebrow, Narrow mouth, Abnormality of the de... ORPHA:363611
Osteopathia Striata With Cranial Sclerosis
Thick lower lip vermilion, Dental malocclusion, Dental crowding, High palate, Paranasal sinus hyp... OMIM:300373
Turnpenny-Fry Syndrome
Hypoplasia of the primary teeth, Widely spaced teeth, Torticollis, Dental crowding, Mandibular pr... OMIM:618371
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Hypoplasia of the fovea, Ocular albinism ORPHA:54
Persistent Hyperplastic Primary Vitreous
Microphthalmia, Remnants of the hyaloid vascular system, Retinal fold, Tractional retinal detachm... ORPHA:91495
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Mandibular condyle hypoplasia, Micrognathia, Hypoplasia of the premaxilla, Primary amenorrhea ORPHA:2975
Ear-Patella-Short Stature Syndrome
Retrognathia, High, narrow palate, Breast aplasia, Narrow mouth, Mandibular aplasia, Hypoplasia o... ORPHA:2554
Oculocutaneous Albinism Type 2
Optic nerve misrouting, Macular hypopigmentation, Hypopigmentation of hair, White hair, Abnormali... ORPHA:79432
Focal Dermal Hypoplasia
Optic atrophy, Nail dystrophy, Microphthalmia, Aniridia, Delayed eruption of teeth, Brittle hair,... OMIM:305600
Traboulsi Syndrome
Retrognathia, Microphthalmia, High palate, Bifid uvula, Malar flattening, Dental malocclusion OMIM:601552
Goldberg-Shprintzen Syndrome
Short philtrum, Highly arched eyebrow, Oligodontia, Everted lower lip vermilion, Synophrys, Hypop... OMIM:609460
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Craniosynostosis And Dental Anomalies
Narrow palate, Supernumerary tooth, Delayed eruption of teeth, Dental crowding, Mandibular progna... OMIM:614188
Isolated Cleft Lip
Supernumerary maxillary incisor, Non-midline cleft of the upper lip, Velopharyngeal insufficiency... ORPHA:199302
Ablepharon Macrostomia Syndrome
Breast hypoplasia, Thin vermilion border, Absent eyelashes, Microdontia, Absent eyebrow, Hypoplas... ORPHA:920
Cornelia De Lange Syndrome 6
Highly arched eyebrow, Synophrys, Cleft lip, Sparse eyebrow, Long philtrum, Frontal upsweep of ha... OMIM:620568
Pierson Syndrome
Microphthalmia, Hypoplasia of the ciliary body, Retinal detachment, Remnants of the hyaloid vascu... OMIM:609049
Faciocardiomelic Syndrome
Micrognathia, Short eyelashes, Wide mouth, Long philtrum, Dental malocclusion, Hyperplasia of the... OMIM:612731
Axenfeld-Rieger Syndrome, Type 1
Decreased response to growth hormone stimulation test, Aniridia, Short philtrum, Oligodontia, Mic... OMIM:180500
Chilton-Okur-Chung Neurodevelopmental Syndrome
Highly arched eyebrow, Septo-optic dysplasia, Wide mouth, Sparse hair, Agenesis of incisor, Short... OMIM:619841
Distal Deletion 19P
Short philtrum, Hypoplasia of the maxilla, Cleft palate, Thick eyebrow, Alopecia ORPHA:96129
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Narrow palate, Supernumerary tooth, Trichiasis, Highly arched eyebrow, Dental crowding, High pala... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Narrow palate, Supernumerary tooth, Trichiasis, Highly arched eyebrow, Dental crowding, High pala... ORPHA:353277
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Chorioretinal coloboma, Macular hypoplasia OMIM:615219
Weill-Marchesani Syndrome 1
Narrow palate, Tooth malposition, Microspherophakia, Hypoplasia of the maxilla, Abnormal dental m... OMIM:277600
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Gingival overgrowth, Hirsutism, Hypoplasia of the maxilla, Micrognathia OMIM:259600
Meier-Gorlin Syndrome 1
Breast hypoplasia, High palate, Narrow mouth, Microdontia, Long eyelashes, Hypoplasia of the maxi... OMIM:224690
Osteoglophonic Dysplasia
Delayed eruption of teeth, Eruption failure, Mandibular prognathia, High palate, Hypoplasia of th... OMIM:166250
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Irregular dentition ORPHA:314679
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Branchiooculofacial Syndrome
Premature graying of hair, Microphthalmia, Anophthalmia, Abnormality of the dentition, Low poster... OMIM:113620
Zttk Syndrome
Optic atrophy, Thin vermilion border, Broad eyebrow, Short philtrum, High palate, Abnormality of ... OMIM:617140
Frank-Ter Haar Syndrome
Broad alveolar ridges, Gingival overgrowth, High palate, Micrognathia, Wide mouth, Dental maloccl... OMIM:249420
Carpenter Syndrome 2
Narrow palate, Retrognathia, High, narrow palate, Highly arched eyebrow, Hypoplastic nipples, Hig... OMIM:614976
Van Den Ende-Gupta Syndrome
High, narrow palate, Dental crowding, High palate, Everted lower lip vermilion, Narrow mouth, Hyp... OMIM:600920
Williams Syndrome
Everted lower lip vermilion, Microdontia, Wide mouth, Long philtrum, Tremor, Abnormal dental morp... ORPHA:904
Shprintzen-Goldberg Syndrome
Retrognathia, High, narrow palate, Hypoplasia of the maxilla, Micrognathia, Cryptorchidism ORPHA:2462
Myhre Syndrome
Microphthalmia, Short philtrum, Mandibular prognathia, Narrow mouth, Hypoplasia of the maxilla, C... OMIM:139210
Knobloch Syndrome 1
Alopecia of scalp, Retinal detachment, Chorioretinal atrophy, Vitreoretinopathy, Optic disc pallo... OMIM:267750
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Lacrimal gland aplasia, Conical incisor, Aplasia of the parotid gland, L... OMIM:149730
Hermansky-Pudlak Syndrome 6
Endometriosis, Absent foveal reflex, Albinism, Macular hypoplasia, Ocular albinism OMIM:614075
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Microphthalmia, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Sparse eyelashes, Spar... ORPHA:306542
Albinism, Oculocutaneous, Type Ia
Hypopigmentation of hair, White hair, Hypoplasia of the fovea, Albinism, Ocular albinism OMIM:203100
Coffin-Lowry Syndrome
Narrow palate, Thick lower lip vermilion, Widely spaced teeth, Highly arched eyebrow, Mandibular ... OMIM:303600
Bartsocas-Papas Syndrome 1
Microphthalmia, Absent eyelashes, Sparse scalp hair, Bilateral cryptorchidism, Absent eyebrow, Hy... OMIM:263650
Greenberg Dysplasia
Stillbirth, Retrognathia, Hypoplasia of the maxilla, Micrognathia, Neonatal death, Pancreatic isl... OMIM:215140
Monosomy 22Q13.3
Dental crowding, Long eyelashes, Hypohidrosis, Thick eyebrow, Malar flattening, Dental malocclusion ORPHA:48652
Weill-Marchesani Syndrome 2
Narrow palate, Tooth malposition, Microspherophakia, High palate, Hypoplasia of the maxilla, Abno... OMIM:608328
Holoprosencephaly 2
Microphthalmia, Solitary median maxillary central incisor, Anterior pituitary agenesis, Bilateral... OMIM:157170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Retrognathia, Short philtrum, Mandibular prognathia, Hypoplastic nipples, Narrow mouth, Cryptorch... ORPHA:96334
Bloom Syndrome
Azoospermia, Cryptorchidism, Malar flattening, Agenesis of maxillary lateral incisor, Decreased f... OMIM:210900
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Abnorm... ORPHA:666
Neuroocular Syndrome
Retrognathia, Microphthalmia, Widely spaced teeth, Short uvula, Brittle hair, Highly arched eyebr... OMIM:619539
Fraser Syndrome 1
Bilateral microphthalmos, Anophthalmia, Dental crowding, Absent eyelashes, Absent eyebrow, Extens... OMIM:219000
Holoprosencephaly-Postaxial Polydactyly Syndrome
Orofacial cleft, Microphthalmia, Thyroid hypoplasia, Narrow mouth, Micrognathia, Cleft palate, Hy... ORPHA:2166
Noonan Syndrome 1
Male infertility, High, narrow palate, High palate, Woolly hair, Low posterior hairline, Microgna... OMIM:163950
Cutis Laxa, Autosomal Recessive, Type Iic
Dental crowding, Mandibular prognathia, High palate, Narrow mouth, Bilateral cryptorchidism, Medi... OMIM:617402
Robin Sequence With Cleft Mandible And Limb Anomalies
Cleft lower alveolar ridge, High palate, Narrow mouth, Cleft mandible, Micrognathia, Bifid uvula,... OMIM:268305
Holoprosencephaly 7
Bilateral microphthalmos, Microphthalmia, Solitary median maxillary central incisor, Bilateral cl... OMIM:610828
Fraser Syndrome
Orofacial cleft, Microphthalmia, Anophthalmia, Dental crowding, High palate, Cleft upper lip, Abn... ORPHA:2052
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Optic atrophy, Thin vermilion border, Short philtrum, Broad lateral eyebrow, Optic nerve hypoplas... ORPHA:500150
Saethre-Chotzen Syndrome
Narrow palate, Hypoplasia of the maxilla, Cleft of chin, Cleft palate, Low anterior hairline, Mal... OMIM:101400
Cutis Laxa, Autosomal Recessive, Type Ib
Retrognathia, High palate, Micrognathia, Neonatal death, Prominence of the premaxilla OMIM:614437
Simpson-Golabi-Behmel Syndrome, Type 1
Narrow palate, Mandibular prognathia, Gingival overgrowth, Macroglossia, Exaggerated median tongu... OMIM:312870
Williams-Beuren Syndrome
Premature graying of hair, Medial flaring of the eyebrow, Thick lower lip vermilion, Hypodontia, ... OMIM:194050
Aneurysm-Osteoarthritis Syndrome
Retrognathia, High palate, Cleft palate, Bifid uvula, Malar flattening, Dental malocclusion ORPHA:284984
Floating-Harbor Syndrome
Short philtrum, Oligodontia, Microdontia, Persistence of primary teeth, Hypoplasia of the maxilla... ORPHA:2044
Primrose Syndrome
Dystrophic fingernails, Thick lower lip vermilion, High palate, Increased size of the mandible, N... OMIM:259050
Acrofacial Dysostosis, Cincinnati Type
Retrognathia, Aplastic zygomatic arch, High palate, Laryngeal dystonia, Bilateral cryptorchidism,... OMIM:616462
Singleton-Merten Syndrome 1
High anterior hairline, Hypoplasia of the tooth germ, Eruption failure, Short dental root, Hypopl... OMIM:182250
Microphthalmia, Syndromic 1
Orofacial cleft, Microphthalmia, High, narrow palate, Anophthalmia, Tooth malposition, Dental cro... OMIM:309800
Loeys-Dietz Syndrome 3
Retrognathia, High palate, Cleft palate, Bifid uvula, Malar flattening, Dental malocclusion OMIM:613795
Craniofacial Microsomia 1
Microphthalmia, Transverse facial cleft, Anophthalmia, Maxillozygomatic hypoplasia, Hypoplasia of... OMIM:164210
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Retinal detachment, Adrenal pheochromocytoma, Retinal capillary hemangi... ORPHA:892
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Multiple Myeloma
Weight loss ORPHA:29073
Von Hippel-Lindau Syndrome
Pheochromocytoma, Retinal capillary hemangioma, Neoplasm of the pancreas, Pancreatic cysts OMIM:193300
Colorectal Cancer
OMIM:114500
Myeloma, Multiple
OMIM:254500

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 Ccnd1

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 Ccnd1.

No publications found that use IMPC mice or data for Ccnd1.

Order Mouse and ES Cells

All available products are supplied via our member's centres or partnerships. When ordering a product from the IMPC you will be redirected to one of their websites or prompted to start an email.

MGI Allele Allele Type Produced
Ccnd1tm185778(L1L2_Bact_P) KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors
Ccnd1tm1e(EUCOMM)Hmgu Targeted, non-conditional allele ES Cells

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