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Gene: Ccnd1 MGI:88313

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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

Order Alleles

IMPC Data Collections

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

IMPC Phenotype Summary

Significant
Not Significant
Not tested

View all our phenotype data below

Phenotypes

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

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, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Multiple Myeloma
Weight loss ORPHA:29073
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Retinal capillary hemangioma, Pheochromocytoma, 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
Retinal dysplasia, Falciform retinal fold OMIM:312550
Stargardt Disease 1
Macular degeneration, Retinitis pigmentosa inversa, Bull's eye maculopathy OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Drusen, Reticular pigmentary degeneration, Retinal dystrophy 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, Pigmentary retinopathy, Macular atrophy, Attenuation of re... OMIM:613830
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Exudative Vitreoretinopathy 7
Retinal detachment, Exudative vitreoretinopathy, Retinal hole, Retinal fold, Retinal degeneration OMIM:617572
Stargardt Disease
Retinal pigment epithelial atrophy, Retinal thinning, Abnormal foveal morphology, Retinal pigment... ORPHA:827
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Bone spicule pigmentation of the retina, Retinal pigment epithelial atrophy, Retinal dystrophy, D... OMIM:616108
Exudative Vitreoretinopathy 3
Retinal detachment, Retinal exudate, Exudative vitreoretinopathy, Retinal hole, Retinal fold OMIM:605750
Carabelli Anomaly Of Maxillary Molar Teeth
Shovel-shaped maxillary central incisors, Abnormality of molar, Abnormality of the dentition OMIM:114700
Filippi Syndrome
Cryptorchidism, Optic atrophy, Serrated incisors, Thin vermilion border, Short philtrum, Hypodont... OMIM:272440
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Retinal detachment, Retinal atrophy, Retinal pigment epithelial atrophy, Mizuo phenomenon, Macula... OMIM:312700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Macrodontia, Abnorma... ORPHA:477781
Persistent Placoid Maculopathy
Hypoplasia of the fovea, Retinal pigment epithelial mottling, Choroidal neovascularization, Abnor... ORPHA:97341
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Foveal Hypoplasia 1
Hypoplasia of the fovea OMIM:136520
Microphthalmia, Isolated, With Coloboma 6
Hypoplasia of the fovea, Bilateral microphthalmos, Optic disc hypoplasia OMIM:613703
Retinopathy, Pericentral Pigmentary, Dominant
Bone spicule pigmentation of the retina, Retinal atrophy, Retinal dystrophy, Pigmentary retinopat... OMIM:180210
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Macular Degeneration, Age-Related, 1
Macular drusen, Choroidal neovascularization, Geographic atrophy, Macular hemorrhage, Macular deg... 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
Micrognathia, Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Florid Cemento-Osseous Dysplasia
Jaw swelling, Mandibular osteomyelitis, Supernumerary tooth, Dental malocclusion, Oral ulcer, Abn... ORPHA:83451
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of hair, Macular hypoplasia, Hypopigmentation of the fundus, Albinism OMIM:606574
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Tremor, Optic atrophy, Premature graying of hair, Abnormal optic nerve ... ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Retinal atrophy, Micrognathia, Optic atrophy, Hypoplasia of the retina, Everted lower lip vermili... OMIM:253280
Familial Drusen
Abnormality of retinal pigmentation, Macular drusen, Peripapillary chorioretinal atrophy, Choroid... ORPHA:75376
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Rubinstein-Taybi Syndrome 2
Highly arched eyebrow, Micrognathia, Carious teeth, Talon cusp, Hirsutism, Dental malocclusion, N... OMIM:613684
Birdshot Chorioretinopathy
Retinal detachment, Optic disc pallor, Abnormal chorioretinal morphology, Choroidal neovasculariz... ORPHA:179
Amelogenesis Imperfecta, Type Iiia
Anterior open-bite malocclusion, Dental malocclusion, Amelogenesis imperfecta OMIM:130900
Coloboma Of Macula
Macular coloboma OMIM:120300
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Anterior open-bite malocclusion, Enamel hypomineralization, Amelogenesis imperfecta OMIM:617217
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal dental pulp morphology, Ag... ORPHA:2791
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Liang-Wang Syndrome
Thin upper lip vermilion, Diastema, Synophrys, Gingival overgrowth, Downturned corners of mouth, ... OMIM:618729
Intellectual Developmental Disorder With Ocular Anomalies And Distinctive Facial Features
Hypoplasia of the fovea, Optic atrophy OMIM:620086
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... ORPHA:370097
Hemifacial Hyperplasia
Hypoplasia of the maxilla, Dental malocclusion OMIM:133900
Albinism, Oculocutaneous, Type V
Hypoplasia of the fovea, Albinism OMIM:615312
Auriculocondylar Syndrome 2A
Dental crowding, Micrognathia, Narrow mouth, Temporomandibular joint ankylosis, Microglossia, Den... OMIM:614669
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Cortical Dysplasia, Complex, With Other Brain Malformations 15
Smooth philtrum, Thin upper lip vermilion, Hypoplasia of the maxilla, Synophrys, Optic atrophy, T... OMIM:618737
Trichothiodystrophy 9, Nonphotosensitive
Sparse eyebrow, High, narrow palate, Dental malocclusion, Nail dystrophy, Sparse hair, Tiger tail... OMIM:619692
Cohen Syndrome
Bone spicule pigmentation of the retina, Chorioretinal dystrophy, Bull's eye maculopathy, Decreas... OMIM:216550
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Micrognathia, Diastema, Patchy atrophy of the retinal pigment epithelium, Dental malocclusion, Ma... ORPHA:436245
Optic Atrophy 5
Optic disc pallor, Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:610708
Achromatopsia 7
Hypoplasia of the fovea, Absent foveal reflex, Macular atrophy OMIM:616517
Atkin-Flaitz Syndrome
Abnormality of the dentition, Thick vermilion border, Everted lower lip vermilion, Macroorchidism... ORPHA:1193
Dentinogenesis Imperfecta, Shields Type Iii
Dental enamel pits, Odontodysplasia, Periapical bone loss, Anterior open-bite malocclusion, Denti... OMIM:125500
Dentin Dysplasia, Type I
Pulp obliteration, Periapical bone loss, Oligodontia, Taurodontia, Short dental root, Microdontia... OMIM:125400
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, ... ORPHA:363417
Retinitis Pigmentosa 70
Optic disc pallor, Macular degeneration, Rod-cone dystrophy, Retinal degeneration, Attenuation of... OMIM:615922
Temtamy Preaxial Brachydactyly Syndrome
Highly arched eyebrow, Diastema, Synophrys, Deep philtrum, Optic atrophy, Talon cusp, Cleft palat... OMIM:605282
Intellectual Developmental Disorder And Retinitis Pigmentosa
Abnormal flash visual evoked potentials, Optic disc pallor, Bone spicule pigmentation of the reti... OMIM:618195
Intellectual Disability, Birk-Barel Type
Tented upper lip vermilion, Highly arched eyebrow, Micrognathia, High, narrow palate, Incisor mac... ORPHA:166108
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Intellectual Developmental Disorder, Autosomal Dominant 21
Cryptorchidism, Cleft palate, Thin vermilion border, Long eyelashes, Narrow mouth, Incisor macrod... OMIM:615502
Achromatopsia
Hypoplasia of the fovea, Retinal pigment epithelial atrophy, Retinal pigment epithelial mottling,... ORPHA:49382
Stickler Syndrome Type 1
Retinal detachment, Hypoplasia of the maxilla, Abnormal vitreous humor morphology, Cleft palate, ... ORPHA:90653
Bardet-Biedl Syndrome 21
Cone/cone-rod dystrophy, Hypoplasia of the fovea, Retinal atrophy, Retinal thinning, Abnormality ... OMIM:617406
Mcdonough Syndrome
Mandibular prognathia, Micrognathia, Open bite, Cryptorchidism, Synophrys, Dental malocclusion, S... ORPHA:2471
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Carious teeth, Enamel hypomineralization, Anterior open-bite malocclusion, Yellow-brown discolora... OMIM:204700
Cherubism
Jaw swelling, Macular scar, Optic neuropathy, Dental malocclusion, Alveolar ridge overgrowth, Nar... OMIM:118400
Mulibrey Nanism
Dental crowding, Absent frontal sinuses, Hypoplastic frontal sinuses, Dental malocclusion, Pigmen... OMIM:253250
Intellectual Developmental Disorder, Autosomal Dominant 70
Mandibular prognathia, Retinal detachment, Optic nerve hypoplasia, Highly arched eyebrow, Retinal... OMIM:620157
Intellectual Disability And Myopathy Syndrome
Widely-spaced maxillary central incisors, Thin upper lip vermilion, Dental malocclusion, Incisor ... OMIM:619719
Retinitis Pigmentosa 13
Bone spicule pigmentation of the retina, Optic disc drusen, Perifoveal ring of hyperautofluoresce... OMIM:600059
Clark-Baraitser syndrome
Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Wide... OMIM:300602
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Dental Anomalies And Short Stature
Mandibular prognathia, Hypoplasia of the maxilla, Amelogenesis imperfecta, Oligodontia, Widely sp... OMIM:601216
Amelogenesis Imperfecta, Type Ic
Enamel hypomineralization, Anterior open-bite malocclusion, Taurodontia, Yellow-brown discolorati... OMIM:204650
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
Oculocutaneous Albinism, Type Viii
Hypoplasia of the fovea, Chorioretinal hypopigmentation, Hypopigmentation of hair OMIM:619165
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Mandibular prognathia, High palate, Dental malocclusion OMIM:618292
Tricho-Dento-Osseous Syndrome
Abnormal hair quantity, Dental enamel pits, Periapical tooth abscess, Enamel hypomineralization, ... ORPHA:3352
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Sparse scalp hair, High anterior hairline, Notched primary central incisor OMIM:620062
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Alopecia, Yellow nails, Carious teeth, Conical incisor, Nail dystrophy, Enamel hypoplasia, Sparse... OMIM:614564
Albinism, Oculocutaneous, Type Vi
Hypoplasia of the fovea, Fair hair OMIM:113750
Amelogenesis Imperfecta, Type Ih
Dental enamel pits, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth, Ena... OMIM:616221
Foveal Hypoplasia 2
Hypoplasia of the fovea, Microphthalmia, Foveal hyperpigmentation, Optic nerve misrouting OMIM:609218
Ichthyosis, Congenital, Autosomal Recessive 11
Curly hair, Brittle hair, Sparse eyelashes, Curly eyelashes, Sparse eyebrow, Hypohidrosis, Conica... OMIM:602400
Craniosynostosis 3
Low anterior hairline, Dental malocclusion OMIM:615314
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... OMIM:257850
Vitreoretinal Degeneration, Snowflake Type
Retinal detachment, Snowflake vitreoretinal degeneration, Optically empty vitreous, Retinal dots OMIM:193230
Developmental And Epileptic Encephalopathy 66
Thin upper lip vermilion, Cryptorchidism, Synophrys, Downturned corners of mouth, Wide mouth, Wid... OMIM:618067
Auriculocondylar Syndrome 1
Dental crowding, Micrognathia, Dental malocclusion, Cleft palate, Mandibular condyle hypoplasia, ... OMIM:602483
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Amelogenesis Imperfecta, Type Iiic
Anterior open-bite malocclusion, Hypocalcification of dental enamel, Yellow-brown discoloration o... OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Hypomature enamel, Amelogenesis imperfecta, Yellow-brown discolo... OMIM:612529
Split-Hand/Foot Malformation 3
Microretrognathia, Hypoplasia of the maxilla, Cleft palate, High palate, Nail dystrophy, Narrow m... OMIM:246560
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... OMIM:601957
Aland Island Eye Disease
Hypoplasia of the fovea, Albinism OMIM:300600
Hypomandibular Faciocranial Dysostosis
Pursed lips, Micrognathia, Hypoplasia of the maxilla, Optic disc coloboma, Aglossia, Malar flatte... OMIM:241310
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Mandibular prognathia, Dental malocclusion, Abnormality of the dentition ORPHA:1858
Intellectual Developmental Disorder, Autosomal Recessive 39
Synophrys, Dental malocclusion OMIM:615541
Exudative Vitreoretinopathy 2, X-Linked
Retinal detachment, Peripheral retinal avascularization, Subretinal exudate, Intraretinal exudate... OMIM:305390
Marshall Syndrome
Retinal detachment, Sparse eyelashes, Micrognathia, Sparse eyebrow, Hypoplasia of the maxilla, Ab... ORPHA:560
Rapp-Hodgkin Syndrome
Conical tooth, Hypoplasia of the maxilla, Sparse hair, Microdontia, Bifid uvula, Cleft upper lip,... OMIM:129400
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Mandibular prognathia, High palate, Dental malocclusion OMIM:608931
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Small pituitary gland, Short stature, Decreased response to growth ... OMIM:615925
Amelogenesis Imperfecta, Type Ia
Dental enamel pits, Taurodontia, Generalized microdontia, Enamel hypoplasia, Amelogenesis imperfecta OMIM:104530
Nance-Horan Syndrome
Diastema, Mulberry molar, Supernumerary maxillary incisor, Microphthalmia, Screwdriver-shaped inc... OMIM:302350
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Conical tooth, Persistence of primary teeth, Scarring alopecia of scalp, Optic atrophy, Dental ma... OMIM:618727
Intermediate Osteopetrosis
Abnormal dental morphology, Abnormality of the dentition, Dental malocclusion, Osteosclerosis of ... ORPHA:210110
Chromosome 3Pter-P25 Deletion Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Micrognathia, Cryptorchidism, Synophrys, Downtur... OMIM:613792
Amelogenesis Imperfecta, Type Ie
Anterior open-bite malocclusion, Enamel hypoplasia, Abnormal dentin morphology, Amelogenesis impe... OMIM:301200
Cowden Syndrome 5
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... OMIM:615108
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Maxillonasal Dysplasia
Mandibular prognathia, Hypoplasia of the maxilla, Open bite, Cleft palate, Tooth agenesis, Microd... ORPHA:1248
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Thin upper lip vermilion, Sparse eyelashes, Exaggerated cupid's bow, Highly ar... OMIM:619293
Potocki-Lupski Syndrome
Mandibular prognathia, Dental crowding, Micrognathia, Dental malocclusion, Wide mouth, High palat... OMIM:610883
Oculocutaneous Albinism Type 1
Hypoplasia of the fovea, White eyelashes, White eyebrow, Depigmented fundus, Abnormal morphology ... ORPHA:352731
Fanconi Anemia, Complementation Group S
Macrodontia, Low anterior hairline, Dental malocclusion, Narrow palate, Ovarian neoplasm, Long ey... OMIM:617883
Exudative Vitreoretinopathy 1
Retinal detachment, Peripheral retinal avascularization, Vitreous floaters, Exudative vitreoretin... OMIM:133780
Lowry-Maclean Syndrome
Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidism, Hypoplasia of the maxi... ORPHA:2409
Odontoonychodermal Dysplasia
Sparse scalp hair, Dry hair, Short nail, Sparse eyebrow, Abnormality of primary teeth, Fine hair,... OMIM:257980
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures
Macrodontia of permanent maxillary central incisor, Open mouth, Thick vermilion border, Exaggerat... OMIM:620114
Alpha-Mannosidosis
Mandibular prognathia, Craniofacial hyperostosis, Open bite, Dental malocclusion, Gingival overgr... ORPHA:61
Cowden Syndrome 6
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... OMIM:615109
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Hypoplasia of the maxilla, Premature loss of teeth, Thin vermilion border, Short philtrum OMIM:156510
Beaulieu-Boycott-Innes Syndrome
Premature ovarian insufficiency, Endometriosis, Micrognathia, Carious teeth, Velopharyngeal insuf... OMIM:613680
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... ORPHA:2980
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size ORPHA:93950
Marshall Syndrome
Retinal detachment, Malar flattening, Micrognathia, Absent frontal sinuses, Thick lower lip vermi... OMIM:154780
Mandibulofacial Dysostosis With Alopecia
Alopecia, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micrognathia, Hyp... OMIM:616367
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Highly arched eyebrow, Open bite, Synophrys, Abnormality of dental eruptio... ORPHA:1327
Mepan Syndrome
Axial dystonia, Limb dystonia, Hemidystonia, Dystonia, Abnormality of visual evoked potentials, F... ORPHA:508093
Microcephaly, Amish Type
Hypoplasia of the fovea, Optic atrophy, Micrognathia OMIM:607196
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Hypoplasia of the maxilla, Short philtrum, Frontal balding ORPHA:93945
Åland Islands Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus ORPHA:178333
X-Linked Intellectual Disability Due To Gria3 Mutations
Mandibular prognathia, Cryptorchidism, Narrow palate, Short upper lip, Thick vermilion border, Sh... ORPHA:364028
Pseudohermaphroditism, Female, With Skeletal Anomalies
Hypoplasia of the maxilla, Short mandibular condyles, Primary amenorrhea OMIM:264270
Autosomal Recessive Distal Osteolysis Syndrome
Hypoplasia of the maxilla, Abnormality of the dentition ORPHA:2776
Intellectual Developmental Disorder, Autosomal Recessive 68
Hypoplasia of the maxilla, Synophrys, Broad eyebrow OMIM:618302
Frontonasal Dysplasia 1
Median cleft lip, Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Widely-sp... OMIM:136760
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Abnormality of visual evoked potentials, Cachexia ORPHA:1389
Cohen Syndrome
Micrognathia, Hypoplasia of the maxilla, High, narrow palate, Low anterior hairline, Short philtr... ORPHA:193
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
Thin upper lip vermilion, Micrognathia, Deep philtrum, Optic atrophy, Low anterior hairline, Dent... ORPHA:329178
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Hypoplasia of the maxilla, Malar flattening, Optic atrophy, Abnormal palate morphology ORPHA:93262
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Cone/cone-rod dystrophy, Abnormality of macular pigmentation, Dental malocclusion OMIM:608940
Autosomal Recessive Spastic Paraplegia Type 77
Paroxysmal dystonia, Bilateral cryptorchidism, Dystonia, Macrodontia of permanent maxillary centr... ORPHA:466722
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
Thin upper lip vermilion, Exaggerated startle response, Tented upper lip vermilion, Abnormality o... ORPHA:438216
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Crowded maxillary incisors ORPHA:397973
Tooth Agenesis, Selective, X-Linked, 1
Agenesis of lateral incisor, Aplasia of the maxilla, Selective tooth agenesis, Agenesis of premol... OMIM:313500
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Van Der Woude Syndrome 2
Lip pit, Cleft upper lip, Dental malocclusion, Cleft palate, Hypodontia, Anodontia OMIM:606713
Holoprosencephaly 9
Anophthalmia, Anterior pituitary hypoplasia, Optic nerve hypoplasia, Decreased response to growth... OMIM:610829
Tooth Agenesis, Selective, 4
Sparse scalp hair, Sparse eyebrow, Abnormality of primary teeth, Agenesis of permanent teeth, Hyp... OMIM:150400
Kdm5C-Related Syndromic X-Linked Intellectual Disability
Hypoplasia of the maxilla, Cryptorchidism, Patchy alopecia, High palate, Decreased testicular size ORPHA:85279
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Microphthalmia, Intrauterine growth retardation OMIM:609054
Incontinentia Pigmenti
Hypoplasia of the fovea, Retinal detachment, Alopecia, Delayed eruption of teeth, Supernumerary n... OMIM:308300
Cri-Du-Chat Syndrome
Microretrognathia, Cryptorchidism, Thick lower lip vermilion, Optic atrophy, Orofacial cleft, Pre... OMIM:123450
Lujan-Fryns Syndrome
Dental crowding, Micrognathia, Hypoplasia of the maxilla, Abnormality of the dentition, High pala... ORPHA:776
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... ORPHA:2751
Momo Syndrome
Delayed eruption of teeth, Bilateral microphthalmos, Thick lower lip vermilion, Dental malocclusi... ORPHA:2563
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Micrognathia, Abnormality of the dentition, Cryptorchidism, Thick lower lip vermilion, Dental mal... ORPHA:85321
Melanocytic Nevus Syndrome, Congenital
Prominence of the premaxilla, Deep philtrum, Everted lower lip vermilion, Long philtrum, Open mouth OMIM:137550
Canavan Disease
Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Optic atrophy ORPHA:141
Familial Benign Copper Deficiency
Early balding, Short stature, Aplasia/Hypoplasia of the fovea ORPHA:1551
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Slow-growing hair, Micrognathia, Carious tee... OMIM:190350
Cowden Syndrome 1
Hyperthyroidism, Micrognathia, Hypoplasia of the maxilla, Thyroiditis, Angioid streaks of the fun... OMIM:158350
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia ORPHA:2185
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Cryptorchidism, Abnormalit... ORPHA:915
Hypohidrotic Ectodermal Dysplasia
Abnormal hair quantity, Sinusitis, Slow-growing hair, Abnormal dental morphology, Abnormality of ... ORPHA:238468
Muenke Syndrome
High palate, Low anterior hairline, Malar flattening, Dental malocclusion OMIM:602849
Auriculocondylar Syndrome
Abnormality of the temporomandibular joint, Dental crowding, Hamartoma of tongue, Micrognathia, N... ORPHA:137888
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Premature ovarian insufficiency, Endometriosis, Abnormality of the dentition, Carious teeth, Thin... ORPHA:363444
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Conical tooth, Micrognathia, Widely spaced teeth, Microdontia, Peg-shaped maxillary lateral incisors OMIM:610706
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, Choreoathetosis, High palate, Chorio... OMIM:234100
20P12.3 Microdeletion Syndrome
Hypoplasia of the maxilla, Narrow mouth, Malar flattening, Long philtrum ORPHA:261295
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Zimmermann-Laband Syndrome
Micrognathia, Supernumerary tooth, Gingival fibromatosis, Cleft palate, Anterior open-bite malocc... ORPHA:3473
Albinism, Oculocutaneous, Type Ii
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Red hair, Hypopigmentation of the fu... OMIM:203200
Isolated Aniridia
Aniridia, Aplasia/Hypoplasia of the macula ORPHA:250923
Sclerosteosis 1
Mandibular prognathia, Papilledema, Optic atrophy, Dental malocclusion, Facial palsy secondary to... OMIM:269500
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Sparse eyelashes, Selective tooth agenesis, Supernumerary nipple, Conical tooth, Absent eyelashes... OMIM:106260
Optic Atrophy 8
Abnormality of pattern visual evoked potentials, Optic atrophy OMIM:616648
Trichothiodystrophy 2, Photosensitive
Coarse hair, Tiger tail banding, Agenesis of maxillary lateral incisor OMIM:616390
Ataxia With Vitamin E Deficiency
Tremor, Abnormality of retinal pigmentation, Abnormality of visual evoked potentials, Dystonia ORPHA:96
Developmental And Epileptic Encephalopathy 83
Hypoplasia of the fovea, Highly arched eyebrow, Synophrys, Long philtrum, High anterior hairline OMIM:618744
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Pycnodysostosis
Obtuse angle of mandible, Decreased response to growth hormone stimulation test, Delayed eruption... ORPHA:763
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Brittle hair, Abnormal oral mucosa morphology, Conical tooth, Hypoplasia of the maxilla, Sparse h... OMIM:305100
Coffin-Lowry Syndrome
Delayed eruption of teeth, Abnormality of retinal pigmentation, Craniofacial hyperostosis, Abnorm... ORPHA:192
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Opti... OMIM:101800
Intellectual Developmental Disorder, X-Linked, Syndromic 14
Mandibular prognathia, Hypoplasia of the maxilla, High palate OMIM:300676
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Dental malocclusion, High palate, Hypodontia, Bifid uvula OMIM:612350
Crouzon Syndrome
Hypoplasia of the maxilla, Optic atrophy, Narrow palate ORPHA:207
Spondylospinal Thoracic Dysostosis
Hypoplasia of the maxilla, Micrognathia OMIM:601809
Angelman Syndrome
Mandibular prognathia, Protruding tongue, Hypoplasia of the maxilla, Limb tremor, Wide mouth, Mac... OMIM:105830
Autosomal Dominant Optic Atrophy Plus Syndrome
Temporal optic disc pallor, Abnormal retinal nerve fiber layer morphology, Optic atrophy, Abnorma... ORPHA:1215
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
Hypoplasia of the maxilla, Tremor, Low anterior hairline, Limb tremor, High palate OMIM:218000
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Hypoplasia of the maxilla, Sparse facial hair, Sparse axillary hair OMIM:608154
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Narrow mouth ORPHA:1529
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Micrognathia, ... OMIM:209885
Intellectual Disability, Buenos-Aires Type
Mandibular prognathia, Abnormal dental morphology, Open bite, Dental malocclusion, Fine hair, Hig... ORPHA:3079
Lessel-Kreienkamp Syndrome
Thin upper lip vermilion, Open mouth, Dental malocclusion OMIM:619149
Microcephaly-Capillary Malformation Syndrome
Hypoplasia of the maxilla, Abnormal hair whorl, Optic atrophy, Cleft palate OMIM:614261
Robinow Syndrome, Autosomal Dominant 2
Thin upper lip vermilion, Dental crowding, Cleft soft palate, Micrognathia, Abnormality of the de... OMIM:616331
Oculocutaneous Albinism Type 5
Hypoplasia of the fovea, High palate, Ocular albinism, Abnormal fundus morphology ORPHA:370091
Dislocation Of The Hip-Dysmorphism Syndrome
Malar flattening, Prominence of the premaxilla, Abnormal palate morphology, Narrow mouth ORPHA:2412
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Conical tooth, Hypoplasia of the maxilla, Diastema, Short philtrum OMIM:619142
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Delayed eruption of teeth, Cryptorchidism, Gingival overgrowth, Narrow palate, C... OMIM:235510
Cockayne Syndrome A
Mandibular prognathia, Anhidrosis, Dry hair, Retinal atrophy, Delayed eruption of primary teeth, ... OMIM:216400
Orofacial Cleft 15
Agenesis of lateral incisor, Bilateral cleft palate, Sparse eyelashes, Bilateral cleft lip, Spars... OMIM:616788
Pelizaeus-Merzbacher Disease
Failure to thrive in infancy, Cachexia, Choreoathetosis, Dystonia, Abnormality of visual evoked p... ORPHA:702
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Microretrognathia, Highly arched eyebrow, Absent eyelashes, Hypoplasia of the maxilla, Thick verm... ORPHA:228396
Oculocutaneous Albinism Type 4
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79435
8Q22.1 Microdeletion Syndrome
Sparse eyelashes, Abnormal hair pattern, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, H... ORPHA:178303
Crouzon Syndrome
Mandibular prognathia, Dental crowding, Hypoplasia of the maxilla, Optic atrophy, High palate, Dy... OMIM:123500
Hamamy Syndrome
Hypoparathyroidism, Thin upper lip vermilion, Sparse eyelashes, Micrognathia, Sparse eyebrow, Cry... OMIM:611174
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Microphthalmia, Widow's peak, Hypoplasia of the maxilla OMIM:167730
Takenouchi-Kosaki Syndrome
Thin upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Cryptorchidism, Synophrys, Optic... OMIM:616737
Mohr-Tranebjaerg Syndrome
Generalized dystonia, Tremor, Optic atrophy, Focal dystonia, Dystonia, Oromandibular dystonia, Ab... ORPHA:52368
Martin-Probst Syndrome
Micrognathia, Cryptorchidism, Thick lower lip vermilion, Dental malocclusion, Wide mouth, Chordee... OMIM:300519
Multicentric Carpotarsal Osteolysis Syndrome
Hypoplasia of the maxilla, Micrognathia OMIM:166300
Myopathy, Myofibrillar, 8
Dental malocclusion, High palate, Micrognathia OMIM:617258
Distal Limb Deficiencies-Micrognathia Syndrome
Microretrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, High palate, Narrow m... ORPHA:1307
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
Abnormality of upper lip vermillion, Dental crowding, Micrognathia, Abnormality of the dentition,... ORPHA:251028
Amelogenesis Imperfecta, Type Iv
Amelogenesis imperfecta, Enamel hypoplasia, Taurodontia, Yellow-brown discoloration of the teeth OMIM:104510
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow ORPHA:2662
Oculocutaneous Albinism Type 1A
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, Ocular albinism, Abnormal optic nerv... ORPHA:79431
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Alopecia, Premature ovarian insufficiency, Hypergonadotropic hypogonadi... ORPHA:2959
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Bilateral cryptorchid... OMIM:211380
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Open... ORPHA:950
Cerebellofaciodental Syndrome
Sparse eyebrow, Cryptorchidism, Dental malocclusion, Fine hair, Taurodontia, Macrodontia of perma... OMIM:616202
Axenfeld-Rieger Syndrome, Type 2
Mandibular prognathia, Hypoplasia of the maxilla, Cryptorchidism, Short philtrum, Everted lower l... OMIM:601499
Meier-Gorlin Syndrome 4
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Thick lower lip vermilion, Narrow mouth,... OMIM:613804
Autosomal Dominant Keratitis
Hypoplasia of the fovea, Bilateral microphthalmos, Hypoplastic iris stroma, Macular hypoplasia, A... ORPHA:2334
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Retinopathy, Aplasia/Hypoplasia of the fovea ORPHA:2611
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Hyperthyroidism, Dental crowding, Short mandibular rami, Micrognathia, ... OMIM:170390
Axenfeld-Rieger Syndrome
Hypoplasia of the maxilla, Aplasia/Hypoplasia of the iris, Everted lower lip vermilion, Hypodonti... ORPHA:782
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Tented upper lip vermilion, Exaggerated cupid's bow, Abnormality of canine, Synophrys, Pierre-Rob... ORPHA:364577
Short Syndrome
Delayed eruption of teeth, Rieger anomaly, Micrognathia, Dental malocclusion, Downturned corners ... OMIM:269880
Jackson-Weiss Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, Abnormal palate morphology ORPHA:1540
Oculoauricular Syndrome
Cone/cone-rod dystrophy, Retinal detachment, Short mandibular rami, Morning glory anomaly, Chorio... OMIM:612109
Cardiofaciocutaneous Syndrome 1
Absent eyebrow, Curly hair, Slow-growing hair, Abnormality of the dentition, Absent eyelashes, Op... OMIM:115150
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
Thin upper lip vermilion, Dental crowding, Synophrys, Pierre-Robin sequence, Anterior open-bite m... OMIM:617877
Nager Syndrome
Sparse lower eyelashes, Micrognathia, Hypoplasia of the maxilla, Non-midline cleft lip, Cleft pal... ORPHA:245
Seckel Syndrome 1
Dental crowding, Selective tooth agenesis, Micrognathia, Cryptorchidism, Dental malocclusion, Cle... OMIM:210600
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Short nail, Deep philtrum, Abnormal social behavior, High palate, Long... ORPHA:1675
Treacher-Collins Syndrome
Micrognathia, Hypoplasia of the maxilla, Low anterior hairline, Glossoptosis, Hypoplasia of the t... ORPHA:861
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
Thin upper lip vermilion, Dental crowding, Micrognathia, Hypoplasia of the maxilla, Deep philtrum... OMIM:309520
Cerebellar-Facial-Dental Syndrome
Micrognathia, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Alveolar ridge overgrowth, Fin... ORPHA:444072
Myopathy, Centronuclear, X-Linked
Cryptorchidism, High palate, Dental malocclusion OMIM:310400
Ectodermal Dysplasia And Immunodeficiency 1
Sparse hair, Conical incisor, Aplasia of the eccrine sweat glands OMIM:300291
Phelan-Mcdermid Syndrome
Micrognathia, Dental malocclusion, Hypohidrosis, High palate, Long eyelashes, Widely spaced teeth... OMIM:606232
Distal Xq28 Microduplication Syndrome
Short lingual frenulum, Dental crowding, Hypoplasia of the maxilla, Thick lower lip vermilion, Hi... ORPHA:293939
Pde4D Haploinsufficiency Syndrome
Mandibular prognathia, Thin upper lip vermilion, Abnormal dental enamel morphology, Micrognathia,... ORPHA:439822
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Mandibular prognathia, Elevated circulating luteinizing hormone level, Sparse pubic hair, Hypopla... ORPHA:3044
Larsen-Like Syndrome
Malar flattening, Dental malocclusion, Cleft palate OMIM:608545
Van Maldergem Syndrome 2
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:615546
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Abnormality of visual evoked potentials, Optic disc pallor, Long eyelashes, Low posterior hairline OMIM:617523
Cockayne Syndrome B
Mandibular prognathia, Anhidrosis, Dry hair, Delayed eruption of primary teeth, Abnormal hair mor... OMIM:133540
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
Mandibular prognathia, Anophthalmia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow pala... ORPHA:1101
Oliver Syndrome
Mandibular prognathia, Supernumerary nipple, Dental malocclusion, High palate, Short philtrum, Th... ORPHA:2920
Albinism, Ocular, Type I
Hypoplasia of the fovea, Ocular albinism, Depigmented fundus OMIM:300500
Ellis Van Creveld Syndrome
Abnormal hair quantity, Delayed eruption of teeth, Abnormal oral mucosa morphology, Abnormality o... ORPHA:289
Micro Syndrome
Abnormality of retinal pigmentation, Short stature, Cryptorchidism, Optic atrophy, Retinal colobo... ORPHA:2510
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Mandibular prognathia, Smooth philtrum, Thin upper lip vermilion, Micrognathia, Hypoplasia of the... OMIM:300534
Kabuki Syndrome 2
Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palat... OMIM:300867
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
Bull's eye maculopathy, Highly arched eyebrow, Decreased response to growth hormone stimulation t... OMIM:213980
Harrod Syndrome
Cryptorchidism, Dental malocclusion, High palate, Narrow mouth ORPHA:2115
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Hirsutism, Absent lower eyelashes, Thin vermilion ... OMIM:620370
Dysostosis, Stanescu Type
Abnormal dental enamel morphology, Abnormality of the dentition, Hypoplasia of the maxilla, Cario... ORPHA:1798
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Hypoplasia of the maxilla, Malar flattening, Rieger anomaly OMIM:109120
Cockayne Syndrome
Dry hair, Retinal arteriolar constriction, Retinal degeneration, Intention tremor, Retinal atroph... ORPHA:191
Carpenter Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Persistence of primary teeth, Optic atro... OMIM:201000
Cleft Velum
Hypoplasia of the maxilla, Velopharyngeal insufficiency, Cleft soft palate ORPHA:99772
Nablus Mask-Like Facial Syndrome
Thin upper lip vermilion, Sparse eyelashes, Highly arched eyebrow, Abnormality of the dentition, ... OMIM:608156
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Micrognathia, Abnormality of hair texture, Synophrys, Hypoplastic sweat glands, Dental malocclusi... ORPHA:73223
Mohr Syndrome
Median cleft lip, Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate,... OMIM:252100
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Micrognathia, Hypoplasia of the maxilla, Cleft palate, Malar flattening ORPHA:79113
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Supernumerary ... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Exaggerated median tongue furrow, Exaggerated cupid's bow, Optic nerve hypoplasia, Supernumerary ... ORPHA:352665
Aicardi Syndrome
Retinal detachment, Abnormality of retinal pigmentation, Prominence of the premaxilla, Cleft uppe... ORPHA:50
Noonan Syndrome 4
Curly hair, Sparse eyebrow, Cryptorchidism, Dental malocclusion, Wide mouth, Thick vermilion bord... OMIM:610733
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Abnormality of visual evoked potentials, Short stature, Generalized hirsutism ORPHA:1933
Aarskog-Scott Syndrome
Elevated circulating luteinizing hormone level, Cleft upper lip, Bilateral cryptorchidism, Crypto... OMIM:305400
Hermansky-Pudlak Syndrome 4
Hypoplasia of the fovea, Ocular albinism, Menorrhagia, Albinism OMIM:614073
Hermansky-Pudlak Syndrome 11
Hypoplasia of the fovea, Albinism, Ocular albinism, Menorrhagia, Gingival bleeding, Fair hair OMIM:619172
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Optic atrophy, Narro... ORPHA:87
7Q11.23 Microduplication Syndrome
Thin upper lip vermilion, Short lingual frenulum, Micrognathia, Diastema, Sparse anterior scalp h... ORPHA:96121
Mccune-Albright Syndrome
Hyperplasia of the Leydig cells, Hyperthyroidism, Elevated circulating growth hormone concentrati... ORPHA:562
Atelosteogenesis, Type Iii
Hypoplasia of the maxilla, Malar flattening, Cleft palate, Micrognathia OMIM:108721
Saethre-Chotzen Syndrome
Abnormal hair pattern, Hypoplasia of the maxilla, Cryptorchidism, Open bite, Optic atrophy, Low a... ORPHA:794
Van Maldergem Syndrome 1
Irregular dentition, Tented upper lip vermilion, Micrognathia, Hypoplasia of the maxilla, Dental ... OMIM:601390
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Malar flattening, Dental malocclusion, Micrognathia OMIM:608257
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis
Anterior open-bite malocclusion, Hypothyroidism, Hashimoto thyroiditis, Goiter ORPHA:83601
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Martsolf Syndrome 1
Hypogonadotropic hypogonadism, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Low anter... OMIM:212720
Vici Syndrome
Hypopigmentation of hair, Median cleft lip, Everted upper lip vermilion, Macular atrophy, Albinis... OMIM:242840
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Selective tooth agenesis, Persistence of primary teeth, Absent frontal... OMIM:305620
Peroxisomal Acyl-Coa Oxidase Deficiency
Abnormality of visual evoked potentials, Failure to thrive ORPHA:2971
Bosma Arhinia Microphthalmia Syndrome
Paranasal sinus hypoplasia, Hypogonadotropic hypogonadism, Cleft lip, Synophrys, Cryptorchidism, ... OMIM:603457
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Dental crowding, Carious teeth, Cryptorchidism, Supernumerary tooth, Talon cusp, Den... ORPHA:353281
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Hypermyelina... OMIM:601812
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
Broad eyebrow, Hypoplasia of the maxilla, Thin vermilion border, High palate, Long philtrum, Smoo... ORPHA:481152
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Retinal detachment, Anophthalmia, Remnants of the hyaloid vascular sys... OMIM:300166
Frontorhiny
Hypoplasia of the maxilla, Widow's peak, Hypoplastic frontal sinuses, Cleft palate, Microphthalmi... ORPHA:391474
Gorlin-Chaudhry-Moss Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla, Low anterior hairline, Coarse hair, Olig... ORPHA:2095
Localized Scleroderma
Abnormality of the dentition, Dental malocclusion, Abnormal facial skeleton morphology, Abnormal ... ORPHA:90289
Nasopalpebral Lipoma-Coloboma Syndrome
Abnormal eyelash morphology, Sparse eyebrow, Widow's peak, Bilateral microphthalmos, Hypoplasia o... ORPHA:2399
Hermansky-Pudlak Syndrome 6
Macular hypoplasia, Ocular albinism, Absent foveal reflex, Albinism OMIM:614075
Osteopetrosis, Autosomal Recessive 3
Optic nerve compression, Dental malocclusion OMIM:259730
Xq12-Q13.3 Duplication Syndrome
Abnormality of visual evoked potentials, Optic disc pallor, Short stature, Cryptorchidism ORPHA:314389
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating cortisol level, Short stature, Optic atrophy, Adrenocorticotropin receptor ... OMIM:231550
Congenital Myopathy 17
Mandibular prognathia, Tented upper lip vermilion, Dental malocclusion, Narrow jaw, Cleft palate,... OMIM:618975
Oculocutaneous Albinism Type 1B
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, Albinism,... ORPHA:79434
Nestor-Guillermo Progeria Syndrome
Microretrognathia, Sparse scalp hair, Alopecia, Sparse eyelashes, Dental crowding, Micrognathia, ... OMIM:614008
Kagami-Ogata Syndrome
Micrognathia, Hypoplasia of the maxilla, Long philtrum, Frontal hirsutism, Retrognathia OMIM:608149
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Microretrognathia, Carious teeth, Dental malocclusion OMIM:615560
Rubinstein-Taybi Syndrome 1
Dental crowding, Micrognathia, Bilateral cryptorchidism, High, narrow palate, Hypoplasia of the m... OMIM:180849
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Prominence of the premaxilla, Abnormality of the hairline OMIM:614886
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Abnormality of visual evoked potentials, Optic atrophy, Low anterior hairline, Dystonia OMIM:616875
Hermansky-Pudlak Syndrome 5
Hypoplasia of the fovea, Metrorrhagia, Albinism, Ocular albinism, Menorrhagia OMIM:614074
Congenital Sialidosis Type 2
Hypoplasia of the fovea, Protruding tongue, Optic atrophy, Gingival overgrowth, Yellow/white lesi... ORPHA:93400
Chediak-Higashi Syndrome
Hypopigmentation of hair, Tremor, Silver-gray hair, Ocular albinism, Gingivitis, Macular hypoplas... OMIM:214500
Arboleda-Tham Syndrome
Microretrognathia, Mandibular prognathia, Thin upper lip vermilion, Dystonia, Highly arched eyebr... OMIM:616268
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Abnormality of visual evoked potentials, Optic disc pallor, Optic atrophy OMIM:601152
Schwartz-Jampel Syndrome
Decreased testicular size, Abnormal eyebrow morphology, Pursed lips, Micrognathia, Narrow mouth, ... ORPHA:800
Microphthalmia With Limb Anomalies
Abnormal eyebrow morphology, Macrodontia, Hypoplasia of the premaxilla, Micrognathia, Hypoplasia ... ORPHA:1106
Robinow Syndrome, Autosomal Dominant 3
Micrognathia, Cryptorchidism, Cleft lip, Dental malocclusion, Gingival overgrowth, Cleft palate, ... OMIM:616894
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Alopecia, Abnormality of the dentition, Ab... ORPHA:1775
Marshall-Smith Syndrome
Microretrognathia, Eclabion, Prominence of the premaxilla, Brittle hair, Irregular dentition, Opt... OMIM:602535
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Thin upper lip vermilion, Tented upper lip vermilion, Highly arched eyebrow, Sparse eyebrow, Syno... ORPHA:487796
Au-Kline Syndrome
Supernumerary nipple, Cryptorchidism, Dental malocclusion, Bifid tongue, Cleft palate, Downturned... OMIM:616580
Jacobsen Syndrome
U-Shaped upper lip vermilion, Micrognathia, Abnormal eyelash morphology, Cryptorchidism, Optic at... OMIM:147791
W Syndrome
Submucous cleft hard palate, Agenesis of maxillary central incisor, Abnormality of the scalp hair... ORPHA:2804
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
Doors Syndrome
Thin upper lip vermilion, Adrenal hyperplasia, Short lingual frenulum, Abnormality of the dentiti... ORPHA:79500
Branchioskeletogenital Syndrome
Mandibular prognathia, Absent nipple, Unilateral cleft palate, Highly arched eyebrow, Abnormality... ORPHA:1299
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Growth delay, Optic disc pallor, Optic atrophy, Abnormality of visual evoked potentials ORPHA:485421
3Mc Syndrome 2
Prominence of the premaxilla, Torticollis, Highly arched eyebrow, Cleft upper lip, Cryptorchidism... OMIM:265050
Aicardi Syndrome
Retinal detachment, Prominence of the premaxilla, Cleft upper lip, Chorioretinal lacunae, Optic d... OMIM:304050
Achromatopsia 2
Hypoplasia of the fovea, Retinal thinning, Absent foveal reflex, Peripapillary atrophy, Dull fove... OMIM:216900
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Neurodegeneration With Brain Iron Accumulation 2A
Abnormality of visual evoked potentials, Optic atrophy OMIM:256600
Ruvalcaba Syndrome
Cryptorchidism, Delayed puberty, Abnormality of visual evoked potentials, Intrauterine growth ret... ORPHA:3121
Brachytelephalangic Chondrodysplasia Punctata
Hypoplasia of the maxilla, Hypoplasia of the anterior nasal spine, Optic disc hypoplasia, Optic n... ORPHA:79345
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Cryptorchidism, Dental malocclusion, Cleft pala... OMIM:101200
Meier-Gorlin Syndrome 5
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Submucous cleft hard palate, Thick vermi... OMIM:613805
Multiple Pterygium Syndrome, Escobar Variant
Micrognathia, Cryptorchidism, Dental malocclusion, Cleft palate, Downturned corners of mouth, Hig... OMIM:265000
Pfeiffer Syndrome
Mandibular prognathia, Hypoplasia of the maxilla, High palate, Dental crowding OMIM:101600
Shprintzen-Goldberg Craniosynostosis Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Dental malocclusion, Narrow palate, High... OMIM:182212
Anterior Segment Dysgenesis 5
Hypoplasia of the fovea, Hypoplasia of the iris, Rieger anomaly, Microphthalmia OMIM:604229
Hajdu-Cheney Syndrome
Thick eyebrow, Short nail, Micrognathia, Absent frontal sinuses, Cryptorchidism, Synophrys, Denta... OMIM:102500
Meier-Gorlin Syndrome 3
Microretrognathia, Sparse axillary hair, Micrognathia, Sparse pubic hair, Cryptorchidism, Hypopla... OMIM:613803
Robinow Syndrome
Dental crowding, Micrognathia, Persistence of primary teeth, Cryptorchidism, Tooth malposition, G... ORPHA:97360
Myhre Syndrome
Mandibular prognathia, Craniofacial hyperostosis, Hypoplasia of the maxilla, Cryptorchidism, Subm... ORPHA:2588
Spondyloenchondrodysplasia
Delayed eruption of teeth, Hypothyroidism, Dental malocclusion, Decreased response to growth horm... ORPHA:1855
Peters-Plus Syndrome
Thin upper lip vermilion, Short lingual frenulum, Bilobate gallbladder, Bilateral cleft lip, Clef... OMIM:261540
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:604292
Ichthyosis, Spastic Quadriplegia, And Impaired Intellectual Development
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Chand Syndrome
Curly hair, Cleft palate, Agenesis of permanent teeth, Hypohidrosis, Abnormal oral frenulum morph... ORPHA:1401
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Paranasal sinus hypoplasia, Dental crowding, Micrognathia, Cleft upper lip, Craniofa... OMIM:300373
Faciodigitogenital Syndrome, Autosomal Recessive
Cryptorchidism, Widow's peak, Deep philtrum, Dental malocclusion, Trismus, Narrow palate, Wide mo... OMIM:227330
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Absence of Stensen duct, Decreased response to growth hormone stimulation test, Selective tooth a... OMIM:129900
Hermansky-Pudlak Syndrome 8
Hypoplasia of the fovea, Optic disc pallor, Albinism, Silver-gray hair, Ocular albinism, Menorrha... OMIM:614077
Stickler Syndrome
Retinal detachment, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of the maxilla, C... ORPHA:828
Cln5 Disease
Tremor, Abnormality of visual evoked potentials ORPHA:228360
7Q31 Microdeletion Syndrome
Hypoplasia of the maxilla, Torticollis, Wide mouth, Long philtrum ORPHA:251061
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Ear-Patella-Short Stature Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Submucous cleft har... ORPHA:2554
46,Xx Difference Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Micrognathia, Primary amenorrhea, Mandibular condyle hypoplasia, Ab... ORPHA:2975
X-Linked Recessive Ocular Albinism
Hypoplasia of the fovea, Ocular albinism, Abnormal macular morphology ORPHA:54
Mend Syndrome
Microretrognathia, Micrognathia, Cryptorchidism, High palate, Macular hypoplasia, Smooth philtrum OMIM:300960
Infantile Neuroaxonal Dystrophy
Abnormality of visual evoked potentials, Optic atrophy, Dystonia ORPHA:35069
Aniridia 1
Hypoplasia of the fovea, Optic nerve hypoplasia, Hypoplasia of the iris, Chorioretinal hypopigmen... OMIM:106210
Focal Dermal Hypoplasia
Delayed eruption of teeth, Anophthalmia, Brittle hair, Supernumerary nipple, Cleft upper lip, Cry... OMIM:305600
Cleidocranial Dysplasia 2
Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth OMIM:620099
Oculocutaneous Albinism Type 2
Hypoplasia of the fovea, Abnormality of retinal pigmentation, Hypopigmentation of hair, White eye... ORPHA:79432
Acrofacial Dysostosis, Cincinnati Type
Micrognathia, Hypoplasia of the maxilla, Cleft palate, Retrognathia, Aplastic zygomatic arch OMIM:616462
Turnpenny-Fry Syndrome
Mandibular prognathia, Sparse scalp hair, Thin upper lip vermilion, Torticollis, Dental crowding,... OMIM:618371
Ctcf-Related Neurodevelopmental Disorder
Thin upper lip vermilion, Highly arched eyebrow, Abnormality of the dentition, Cryptorchidism, Sy... ORPHA:363611
Persistent Hyperplastic Primary Vitreous
Glial remnants anterior to the optic disc, Hyaloid vascular remnant and retrolental mass, Remnant... ORPHA:91495
Goldberg-Shprintzen Syndrome
Highly arched eyebrow, Hypoplasia of the maxilla, Synophrys, Oligodontia, Short philtrum, Thick v... OMIM:609460
Metachromatic Leukodystrophy, Juvenile Form
Abnormality of visual evoked potentials, Dystonia, Optic atrophy, Intention tremor ORPHA:309263
Isolated Cleft Lip
Macrodontia, Bilateral cleft lip, Velopharyngeal insufficiency, Non-midline cleft lip, Hypodontia... ORPHA:199302
Ablepharon Macrostomia Syndrome
Absent eyebrow, Abnormal hair pattern, Absent eyelashes, Hypoplasia of the maxilla, Fine hair, Wi... ORPHA:920
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
Dental malocclusion, High palate, Microphthalmia, Retrognathia, Malar flattening, Bifid uvula OMIM:601552
Axenfeld-Rieger Syndrome, Type 1
Thin upper lip vermilion, Rieger anomaly, Decreased response to growth hormone stimulation test, ... OMIM:180500
Faciocardiomelic Syndrome
Micrognathia, Dental malocclusion, Wide mouth, Short eyelashes, Long philtrum, Hyperplasia of the... OMIM:612731
Chilton-Okur-Chung Neurodevelopmental Syndrome
Mandibular prognathia, Septo-optic dysplasia, Anterior pituitary hypoplasia, Micrognathia, Synoph... OMIM:619841
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Papilledema, Delayed eruption of teeth, Dental crowding, Hypoplasia of the... OMIM:614188
Pierson Syndrome
Retinal detachment, Rieger anomaly, Hypoplasia of the ciliary body, Remnants of the hyaloid vascu... OMIM:609049
Geroderma Osteodysplasticum
Mandibular prognathia, Hypoplasia of the maxilla, Periodontitis, Malar flattening OMIM:231070
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Natal tooth, Dental crowding, Trichiasis, Highly arched eyebrow, Micrognathia, Cryptorchidism, Su... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Natal tooth, Dental crowding, Trichiasis, Highly arched eyebrow, Micrognathia, Cryptorchidism, Su... ORPHA:353277
Mogs-Cdg
Alopecia, Optic atrophy, Hydrocele testis, Long eyelashes, Dystonia, Abnormality of visual evoked... ORPHA:79330
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Abnormality of visual evoked potentials, Optic atrophy, Low anterior hairline ORPHA:480898
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Distal Deletion 19P
Alopecia, Hypoplasia of the maxilla, Cleft palate, Short philtrum, Thick eyebrow ORPHA:96129
Late-Infantile/Juvenile Krabbe Disease
Tremor, Abnormality of visual evoked potentials ORPHA:206443
Meier-Gorlin Syndrome 1
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, Cleft palate, Long eyelashes, High palat... OMIM:224690
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia, Chorioretinal coloboma OMIM:615219
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Gingival overgrowth, Hirsutism OMIM:259600
Cerebrofacioarticular Syndrome
Hypoplasia of the maxilla, Irregular dentition, Narrow mouth, Micrognathia ORPHA:314679
Metachromatic Leukodystrophy, Late Infantile Form
Abnormality of visual evoked potentials, Optic atrophy, Dystonia ORPHA:309256
Infantile Krabbe Disease
Abnormality of visual evoked potentials, Failure to thrive, Cachexia, Opisthotonus ORPHA:206436
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Branchiooculofacial Syndrome
Anophthalmia, Supernumerary nipple, Micrognathia, Cleft upper lip, Cryptorchidism, Lower lip pit,... OMIM:113620
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Erup... OMIM:166250
Zttk Syndrome
Absent gallbladder, Curly hair, Abnormality of the dentition, Sparse eyebrow, Hypoplasia of the m... OMIM:617140
White-Sutton Syndrome
Short stature, Optic nerve hypoplasia, Sparse hair, Abnormality of visual evoked potentials, Intr... OMIM:616364
Van Den Ende-Gupta Syndrome
Abnormal eyebrow morphology, Dental crowding, Micrognathia, Hypoplasia of the maxilla, High, narr... OMIM:600920
Frank-Ter Haar Syndrome
Thin upper lip vermilion, Micrognathia, Dental malocclusion, Gingival overgrowth, Wide mouth, Hig... OMIM:249420
Carpenter Syndrome 2
Highly arched eyebrow, Supernumerary nipple, Bilateral cryptorchidism, Cryptorchidism, Sparse eye... OMIM:614976
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Metachromatic Leukodystrophy, Adult Form
Dystonia, Optic atrophy, Neoplasm of the gallbladder, Abnormality of visual evoked potentials, In... ORPHA:309271
Weill-Marchesani Syndrome 1
Hypoplasia of the maxilla, Tooth malposition, Microspherophakia, Narrow palate OMIM:277600
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyelashes, Sparse eyebrow, Hypoplasia of the maxilla, Widow's peak, Cleft palate, Aplasia/... ORPHA:306542
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Xerostomia, Lacrimal g... OMIM:149730
Shprintzen-Goldberg Syndrome
Micrognathia, Hypoplasia of the maxilla, Cryptorchidism, High, narrow palate, Retrognathia ORPHA:2462
Williams Syndrome
Micrognathia, Tremor, Microdontia, Abnormal social behavior, Hypothyroidism, Abnormal dental morp... ORPHA:904
Myhre Syndrome
Mandibular prognathia, Thin upper lip vermilion, Hypoplasia of the maxilla, Cryptorchidism, Cleft... OMIM:139210
Albinism, Oculocutaneous, Type Ia
Hypoplasia of the fovea, Hypopigmentation of hair, Albinism, White hair, Ocular albinism OMIM:203100
Knobloch Syndrome 1
Retinal detachment, Optic disc pallor, Chorioretinal atrophy, Vitreoretinopathy, Macular hypoplas... OMIM:267750
Coffin-Lowry Syndrome
Mandibular prognathia, Highly arched eyebrow, Thick lower lip vermilion, Dental malocclusion, Nar... OMIM:303600
Bartsocas-Papas Syndrome 1
Absent eyebrow, Alopecia, Sparse scalp hair, Alopecia totalis, Micrognathia, Bilateral cryptorchi... OMIM:263650
Friedreich Ataxia
Abnormality of visual evoked potentials, Optic atrophy OMIM:229300
Greenberg Dysplasia
Micrognathia, Hypoplasia of the maxilla, Stillbirth, Pancreatic islet-cell hyperplasia, Neonatal ... OMIM:215140
Fraser Syndrome 1
Absent eyebrow, Anophthalmia, Dental crowding, Cleft upper lip, Absent eyelashes, Cryptorchidism,... OMIM:219000
Monosomy 22Q13.3
Dental crowding, Dental malocclusion, Hypohidrosis, Long eyelashes, Malar flattening, Thick eyebrow ORPHA:48652
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Mandibular prognathia, Tented upper lip vermilion, Peripheral retinal avascularization, Micrognat... ORPHA:96334
Bloom Syndrome
Decreased fertility in females, Cryptorchidism, Agenesis of maxillary lateral incisor, Azoospermi... OMIM:210900
Osteogenesis Imperfecta
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental enamel morphology, Microg... ORPHA:666
Neuroocular Syndrome
Hypoplasia of the fovea, Brittle hair, Remnants of the hyaloid vascular system, Highly arched eye... OMIM:619539
Hermansky-Pudlak Syndrome
Hypopigmentation of hair, Menometrorrhagia, Ocular albinism, Long eyelashes, Abnormal optic nerve... ORPHA:79430
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Aplasia of the premaxilla, Submucous cleft hard palate, ... OMIM:157170
Weill-Marchesani Syndrome 2
Hypoplasia of the maxilla, Microspherophakia, Narrow palate, High palate, Tooth malposition OMIM:608328
Noonan Syndrome 1
Male infertility, Micrognathia, Cryptorchidism, High, narrow palate, Dental malocclusion, Cleft p... OMIM:163950
Fraser Syndrome
Anophthalmia, Dental crowding, Abnormal hair pattern, Cleft upper lip, Cryptorchidism, Dental mal... ORPHA:2052
Robin Sequence With Cleft Mandible And Limb Anomalies
Microretrognathia, Micrognathia, Agenesis of mandibular central incisor, Pierre-Robin sequence, C... OMIM:268305
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Micrognathia, Cryptorchidism, Orofacial cleft, Cleft palate, Narrow... ORPHA:2166
Cutis Laxa, Autosomal Recessive, Type Iic
Mandibular prognathia, Dental crowding, Bilateral cryptorchidism, Hypoplasia of the maxilla, High... OMIM:617402
Holoprosencephaly 7
Bilateral cleft palate, Median cleft lip, Hypoplasia of the premaxilla, Bilateral cleft lip, Syno... OMIM:610828
Cerebrotendinous Xanthomatosis
Optic disc pallor, Resting tremor, Optic neuropathy, Abnormal retinal vascular morphology, Optic ... ORPHA:909
Metachromatic Leukodystrophy
Dystonia, Tremor, Abnormal gallbladder morphology, Neoplasm of the gallbladder, Abnormality of vi... ORPHA:512
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Saethre-Chotzen Syndrome
Hypoplasia of the maxilla, Cleft of chin, Low anterior hairline, Cleft palate, Narrow palate, Mal... OMIM:101400
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Absent gallbladder, Curly hair, Optic nerve hypoplasia, Sparse eyebrow, Hypoplasia of the maxilla... ORPHA:500150
Simpson-Golabi-Behmel Syndrome, Type 1
Mandibular prognathia, Exaggerated median tongue furrow, Short nail, Supernumerary nipple, Crypto... OMIM:312870
Williams-Beuren Syndrome
Medial flaring of the eyebrow, Retinal arteriolar tortuosity, Thick lower lip vermilion, Dental m... OMIM:194050
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Tremor, Growth delay, Abnormality of visual evoked potentials, Optic... ORPHA:667
Aneurysm-Osteoarthritis Syndrome
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula ORPHA:284984
Cutis Laxa, Autosomal Recessive, Type Ib
Prominence of the premaxilla, High palate, Micrognathia OMIM:614437
Floating-Harbor Syndrome
Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Carious teeth, Wide mout... ORPHA:2044
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Decreased body weight ORPHA:258
Primrose Syndrome
Sparse scalp hair, Hypergonadotropic hypogonadism, Absent facial hair, Bilateral cryptorchidism, ... OMIM:259050
Singleton-Merten Syndrome 1
Thin upper lip vermilion, Hypoplasia of the tooth germ, Hypoplasia of the maxilla, Carious teeth,... OMIM:182250
Microphthalmia, Syndromic 1
Anophthalmia, Dental crowding, Cleft upper lip, Cryptorchidism, High, narrow palate, Optic disc c... OMIM:309800
Loeys-Dietz Syndrome 3
Dental malocclusion, Cleft palate, High palate, Malar flattening, Retrognathia, Bifid uvula OMIM:613795
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Abnormality of visual evoked potentials, Failure to thrive OMIM:203700
Craniofacial Microsomia 1
Anophthalmia, Micrognathia, Hypoplasia of the maxilla, Cleft upper lip, Cleft palate, Wide mouth,... OMIM:164210
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Papilledema, Retinal detachment, Hypertensive retinopathy, Pancreatic i... ORPHA:892
Spondyloepimetaphyseal Dysplasia, X-Linked
Hypoplasia of the maxilla OMIM:300106
Multiple Myeloma
Weight loss ORPHA:29073
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Retinal capillary hemangioma, Pheochromocytoma, 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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