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, Pancreatic cysts, Hypertensive retinopathy, Papilledema, Macular edema,... ORPHA:892
Multiple Myeloma
Weight loss ORPHA:29073
Von Hippel-Lindau Syndrome
Neoplasm of the pancreas, Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma 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
Retinoschisis, Autosomal Dominant
Abnormality of macular pigmentation, Peripheral retinal degeneration, Retinoschisis OMIM:180270
Stargardt Disease 1
Retinitis pigmentosa inversa, Bull's eye maculopathy, Macular degeneration OMIM:248200
Retinal Dystrophy, Reticular Pigmentary, Of Posterior Pole
Retinal dystrophy, Reticular pigmentary degeneration, Drusen 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
Cone-Rod Dystrophy 5
Macular degeneration OMIM:600977
Macular Degeneration, Age-Related, 15
Macular degeneration OMIM:615591
Macular Degeneration, Age-Related, 2
Macular degeneration OMIM:153800
Macular Degeneration, Age-Related, 13
Macular scar, Choroidal neovascularization, Macular degeneration, Drusen OMIM:615439
Lattice Degeneration Of Retina Leading To Retinal Detachment
Retinal detachment, Lattice retinal degeneration OMIM:150500
Asperger Syndrome, X-Linked, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300497
Asperger Syndrome, X-Linked, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:300494
Asperger Syndrome, Susceptibility To, 1
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608638
Asperger Syndrome, Susceptibility To, 2
Impaired ability to form peer relationships, Abnormal nonverbal communicative behavior OMIM:608631
Exudative Vitreoretinopathy 7
Retinal degeneration, Vitreoretinopathy, Retinal hole OMIM:617572
Retinitis Pigmentosa 36
Macular degeneration, Rod-cone dystrophy, Attenuation of retinal blood vessels, Optic disc pallor... OMIM:610599
Retinal Degeneration And Epilepsy
Retinal degeneration OMIM:267740
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome
Widely spaced teeth, Dental malocclusion, Malar flattening, Retinal dystrophy OMIM:616108
Stargardt Disease
Yellow/white lesions of the macula, Abnormal foveal morphology, Macular degeneration, Retinal pig... ORPHA:827
Exudative Vitreoretinopathy 3
Exudative vitreoretinopathy, Retinal detachment, Retinal fold, Retinal hole, Retinal exudate OMIM:605750
Carabelli Anomaly Of Maxillary Molar Teeth
Abnormality of molar, Abnormality of the dentition, Shovel-shaped maxillary central incisors OMIM:114700
Intellectual Developmental Disorder And Retinitis Pigmentosa
Optic disc pallor, Abnormal flash visual evoked potentials, Peripapillary atrophy, Macular degene... OMIM:618195
Filippi Syndrome
Hypertrichosis, Sparse hair, Hypodontia, Thin vermilion border, Short philtrum, Microdontia, Fron... OMIM:272440
Taurodontism, Microdontia, And Dens Invaginatus
Dens in dente, Taurodontia, Microdontia, Pulp calcification OMIM:313490
Polycystic Kidney, Cataract, And Congenital Blindness
Hypoplasia of the retina, Retinal dystrophy OMIM:263100
Reese Retinal Dysplasia
Remnants of the hyaloid vascular system, Retinal dysplasia OMIM:266400
Retinoschisis 1, X-Linked, Juvenile
Vitreous hemorrhage, Retinal degeneration, Retinal detachment, Retinal pigment epithelial atrophy... OMIM:312700
Primary Condylar Hyperplasia
Anterior open-bite malocclusion, Abnormality of the temporomandibular joint, Abnormal mandible co... ORPHA:477781
Oligodontia
Eclabion, Abnormality of canine, Delayed eruption of teeth, Microdontia, Hypoplasia of teeth, Peg... ORPHA:99798
Microphthalmia, Isolated, With Coloboma 6
Bilateral microphthalmos, Hypoplasia of the fovea, Optic disc hypoplasia OMIM:613703
Foveal Hypoplasia 1
Hypoplasia of the fovea OMIM:136520
Persistent Placoid Maculopathy
Abnormal macular morphology, Hypoplasia of the fovea, Choroidal neovascularization, Retinal pigme... ORPHA:97341
Retinal Arterial Macroaneurysm With Supravalvular Pulmonic Stenosis
Retinal arterial macroaneurysms, Retinal detachment, Exudative retinal detachment OMIM:614224
Amelogenesis Imperfecta
Taurodontia, Fragile teeth, Abnormal jaw morphology, Anterior open-bite malocclusion, Multiple un... ORPHA:88661
Macular Degeneration, Age-Related, 1
Macular degeneration, Foveal hypopigmentation, Geographic atrophy, Choroidal neovascularization, ... OMIM:603075
Retinopathy, Pericentral Pigmentary, Dominant
Retinopathy, Attenuation of retinal blood vessels, Pigmentary retinopathy, Retinal dystrophy, Ret... OMIM:180210
Amelogenesis Imperfecta, Hypomaturation Type, Iia1
Amelogenesis imperfecta, Anterior open-bite malocclusion, Abnormal dental enamel morphology, Cari... OMIM:204700
Albinism, Oculocutaneous, Type Iv
Hypopigmentation of the fundus, Albinism, Hypopigmentation of hair, Macular hypoplasia OMIM:606574
Cleft Palate, Isolated
Gingival overgrowth, Cleft palate, Micrognathia, Anterior open-bite malocclusion, Increased overbite OMIM:119540
Florid Cemento-Osseous Dysplasia
Dental malocclusion, Mandibular osteomyelitis, Abnormal number of teeth, Abnormal cementum morpho... ORPHA:83451
X-Linked Retinal Dysplasia
Abnormality of retinal pigmentation, Abnormal retinal vascular morphology, Retinal dysplasia ORPHA:1852
Neuroectodermal Melanolysosomal Disease
Hypopigmentation of hair, Optic atrophy, Tremor, Aplasia/Hypoplasia of the macula, Abnormality of... ORPHA:33445
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3
Hypoplasia of the retina, Retinal degeneration, Malar flattening, Everted lower lip vermilion, Mi... OMIM:253280
Polyendocrine-Polyneuropathy Syndrome
Short stature, Hypogonadism, Postnatal growth retardation, Dystonia, Central hypothyroidism OMIM:616113
Familial Drusen
Perifoveal ring of hyperautofluorescence, Granular macular appearance, Abnormality of retinal pig... ORPHA:75376
Fryns Macrocephaly
Wide mouth, Macrodontia of permanent maxillary central incisor, Everted lower lip vermilion, Shor... OMIM:600302
Incisors, Shovel-Shaped
Shovel-shaped maxillary central incisors OMIM:147400
Rubinstein-Taybi Syndrome 2
High palate, Dental malocclusion, Hirsutism, Narrow palate, Retrognathia, Micrognathia, Carious t... OMIM:613684
Birdshot Chorioretinopathy
Photoreceptor layer loss on macular OCT, Abnormal retinal vascular morphology, Macular hole, Cyst... ORPHA:179
Amelogenesis Imperfecta, Type Iiia
Dental malocclusion, Amelogenesis imperfecta, Anterior open-bite malocclusion OMIM:130900
Coloboma Of Macula
Macular coloboma OMIM:120300
Amelogenesis Imperfecta, Hypomaturation Type, Iia2
Anterior open-bite malocclusion, Amelogenesis imperfecta, Abnormal dental enamel morphology OMIM:612529
Amelogenesis Imperfecta, Hypomaturation Type, Iia6
Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion OMIM:617217
Otodental Syndrome
Gingival overgrowth, Taurodontia, Periodontitis, Agenesis of premolar, Retinal coloboma, Abnormal... ORPHA:2791
Senior-Loken Syndrome 7
Retinal degeneration OMIM:613615
Cleft Lip/Palate
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... ORPHA:199306
Oculocutaneous Albinism Type 6
Aplasia/Hypoplasia of the macula, Abnormal fundus morphology, Abnormal foveal morphology on macul... ORPHA:370097
Coloboma Of Optic Nerve
Retinal detachment, Optic disc coloboma OMIM:120430
Liang-Wang Syndrome
Wide mouth, Gingival overgrowth, Macrodontia of permanent maxillary central incisor, Macroglossia... OMIM:618729
Auriculocondylar Syndrome 2
Dental malocclusion, Narrow mouth, Cleft palate, Short mandibular rami, Glossoptosis, Micrognathi... OMIM:614669
Albinism, Oculocutaneous, Type V
Albinism, Hypoplasia of the fovea OMIM:615312
Hemifacial Hyperplasia
Dental malocclusion, Hypoplasia of the maxilla OMIM:133900
Cohen Syndrome
Thick eyebrow, Decreased response to growth hormone stimulation test, Macrodontia of permanent ma... OMIM:216550
Regional Odontodysplasia
Macrodontia, Delayed eruption of teeth, Carious teeth, Yellow-brown discoloration of the teeth, D... ORPHA:83450
Retinitis Pigmentosa 13
Cystoid macular edema, Retinal degeneration, Rod-cone dystrophy, Hypopigmentation of the fundus OMIM:600059
Pachygyria, Microcephaly, Developmental Delay, And Dysmorphic Facies, With Or Without Seizures
Widely-spaced incisors, Thick eyebrow, Optic atrophy, Hypoplasia of the maxilla, Synophrys, Thin ... OMIM:618737
Amelogenesis Imperfecta, Type Ie
Enamel hypoplasia, Anterior open-bite malocclusion, Amelogenesis imperfecta, Microdontia OMIM:301200
Trichothiodystrophy 9, Nonphotosensitive
Dental malocclusion, Sparse hair, Sparse eyebrow, Tiger tail banding, High, narrow palate, Nail d... OMIM:619692
Hemifacial Atrophy, Progressive
Dental malocclusion, Patchy alopecia, Short mandibular rami, Poliosis, Delayed eruption of teeth,... OMIM:141300
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome
Dental malocclusion, Malar flattening, Rod-cone dystrophy, Patchy atrophy of the retinal pigment ... ORPHA:436245
Achromatopsia 7
Absent foveal reflex, Hypoplasia of the fovea, Macular atrophy OMIM:616517
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Everted lower lip vermilion, Abnormality of the dentition,... ORPHA:1193
Spondyloepimetaphyseal Dysplasia With Abnormal Dentition
Conical mandibular incisor, Oligodontia, Discolored lateral incisors, Widely-spaced incisors OMIM:601668
Dentinogenesis Imperfecta, Shields Type Iii
Dentinogenesis imperfecta, Anterior open-bite malocclusion, Dental enamel pits, Odontodysplasia, ... OMIM:125500
Temtamy Preaxial Brachydactyly Syndrome
Cleft palate, Diastema, Microdontia, Optic atrophy, Deep philtrum, Synophrys, Talon cusp, Highly ... OMIM:605282
Foveal Hypoplasia 2
Optic nerve misrouting, Microphthalmia, Hypoplasia of the fovea, Foveal hyperpigmentation OMIM:609218
Temtamy Preaxial Brachydactyly Syndrome
Abnormal spaced incisors, Narrow mouth, Tooth malposition, Hypodontia, Micrognathia, Abnormality ... ORPHA:363417
Intellectual Developmental Disorder, X-Linked 58
Dental malocclusion, Short philtrum OMIM:300210
Retinitis Pigmentosa 50
Rod-cone dystrophy, Retinal detachment, Attenuation of retinal blood vessels, Retinal flecks, Opt... OMIM:613194
Intellectual Developmental Disorder, Autosomal Dominant 21
Narrow mouth, Cleft palate, Thin vermilion border, Long philtrum, Long eyelashes, Incisor macrodo... OMIM:615502
Intellectual Disability, Birk-Barel Type
High, narrow palate, Micrognathia, Short philtrum, Broad philtrum, Tented upper lip vermilion, In... ORPHA:166108
Bardet-Biedl Syndrome 21
Hypodontia, Rod-cone dystrophy, Abnormality of the dentition, Retinal thinning, Hypoplasia of the... OMIM:617406
Pilodental Dysplasia With Refractive Errors
Sparse scalp hair, Hypodontia, Brittle hair, Brittle scalp hair, Conical incisor OMIM:262020
Mcdonough Syndrome
Dental malocclusion, Open bite, Micrognathia, Short philtrum, Synophrys, Abnormal palate morpholo... ORPHA:2471
Stickler Syndrome Type 1
Cleft palate, Retinal detachment, Long philtrum, Hypoplasia of the maxilla, Abnormal vitreous hum... ORPHA:90653
Achromatopsia
Absent foveal reflex, Abnormal macular morphology, Retinal pigment epithelial mottling, Attenuati... ORPHA:49382
Clark-Baraitser syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Macroorchidism, Exaggerate... OMIM:300602
Oculodentodigital Dysplasia, Autosomal Recessive
Dental malocclusion, Narrow mouth, Macrodontia of permanent maxillary central incisor, Sparse eye... OMIM:257850
Cherubism
Alveolar ridge overgrowth, Optic neuropathy, Dental malocclusion, Narrow palate, Macular scar, Ol... OMIM:118400
Dental Anomalies And Short Stature
Hypertrichosis, Oligodontia, Microdontia, Widely spaced teeth, Hypoplasia of the maxilla, Mandibu... OMIM:601216
Malocclusion Due To Protuberant Upper Front Teeth
Dental malocclusion OMIM:154300
Mulibrey Nanism
Dental malocclusion, Hypodontia, Pigmentary retinopathy, Enamel hypoplasia, Hypoplastic frontal s... OMIM:253250
Albinism, Oculocutaneous, Type Vi
Abnormal hair morphology, Hypoplasia of the fovea OMIM:113750
Dentin Dysplasia, Type I
Taurodontia, Dentinogenesis imperfecta limited to primary teeth, Microdontia, Pulp obliteration, ... OMIM:125400
Oculocutaneous Albinism, Type Viii
Hypopigmentation of hair, Chorioretinal hypopigmentation, Hypoplasia of the fovea OMIM:619165
Atkin-Flaitz Syndrome
Maxillary lateral incisor microdontia, Prominent median palatal raphe, Macroorchidism, Exaggerate... OMIM:300431
Intellectual Disability And Myopathy Syndrome
Dental malocclusion, Widely-spaced maxillary central incisors, Thin upper lip vermilion, Incisor ... OMIM:619719
Cataract 21, Multiple Types
Retinal detachment, Macular hypoplasia OMIM:610202
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia
Dental malocclusion, Mandibular prognathia, High palate OMIM:618292
Tricho-Dento-Osseous Syndrome
Taurodontia, Abnormal hair quantity, Periapical tooth abscess, Microdontia, Enamel hypomineraliza... ORPHA:3352
Amelogenesis Imperfecta, Type Ic
Taurodontia, Anterior open-bite malocclusion, Enamel hypomineralization, Yellow-brown discolorati... OMIM:204650
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2
Hydrocele testis, Sparse scalp hair, Notched primary central incisor, High anterior hairline OMIM:620062
Pseudopapilledema, Ocular Hypotelorism, Blepharophimosis, And Hand Anomalies
High palate, Dental malocclusion, Anodontia, Narrow palate, Supernumerary tooth, Decreased respon... OMIM:264475
Myopia 3, Autosomal Dominant
Retinal detachment OMIM:603221
Myopia 2, Autosomal Dominant
Retinal detachment OMIM:160700
Myopia 5, Autosomal Dominant
Retinal detachment OMIM:608474
Ichthyosis, Congenital, Autosomal Recessive 11
Pili torti, Sparse hair, Brittle hair, Sparse eyelashes, Sparse body hair, Conical primary inciso... OMIM:602400
Craniosynostosis 3
Dental malocclusion, Low anterior hairline OMIM:615314
Vitreoretinal Degeneration, Snowflake Type
Snowflake vitreoretinal degeneration, Retinal detachment, Optically empty vitreous, Retinal dots OMIM:193230
Amelogenesis Imperfecta, Type Ih
Anterior open-bite malocclusion, Enamel hypoplasia, Yellow-brown discoloration of the teeth, Dent... OMIM:616221
Maxillonasal Dysplasia, Binder Type
Dental malocclusion OMIM:155050
Split-Hand/Foot Malformation 3
High palate, Narrow mouth, Microretrognathia, Cleft palate, Hypoplasia of the maxilla, Nail dystr... OMIM:246560
Mental Retardation, Buenos Aires Type
High palate, Dental malocclusion, Wide mouth, Fair hair, Curly eyelashes, Carious teeth, Long eye... OMIM:249630
Auriculocondylar Syndrome 1
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Anterior open-bite m... OMIM:602483
Intermediate Osteopetrosis
Dental malocclusion, Osteosclerosis of the base of the skull, Abnormality of the dentition, Optic... ORPHA:210110
Exudative Vitreoretinopathy 2, X-Linked
Exudative vitreoretinopathy, Peripheral retinal avascularization, Falciform retinal fold, Retinal... OMIM:305390
Aland Island Eye Disease
Albinism, Hypoplasia of the fovea OMIM:300600
Odontotrichoungual-Digital-Palmar Syndrome
Dental malocclusion, Abnormality of hair texture, Nail dystrophy, Natal tooth, Thick vermilion bo... OMIM:601957
Enamel Hypoplasia, Cataracts, And Aqueductal Stenosis
Enamel hypoplasia, Increased overbite, Shovel-shaped maxillary central incisors, Dental crowding OMIM:600907
Amelogenesis Imperfecta, Type Iiic
Amelogenesis imperfecta, Hypocalcification of dental enamel, Yellow-brown discoloration of the te... OMIM:618386
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome
Dental malocclusion, Mandibular prognathia, Abnormality of the dentition ORPHA:1858
Hypomandibular Faciocranial Dysostosis
Pursed lips, Malar flattening, Micrognathia, Optic disc coloboma, Aglossia, Hypoplasia of the max... OMIM:241310
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency
Dental malocclusion, Mandibular prognathia, High palate OMIM:608931
Marshall Syndrome
High palate, Thick upper lip vermilion, Sparse hair, Malar flattening, Sparse eyebrow, Sparse eye... ORPHA:560
Potocki-Lupski Syndrome
High palate, Dental malocclusion, Wide mouth, Poor eye contact, Micrognathia, Hypothyroidism, Den... OMIM:610883
Chromosome 3Pter-P25 Deletion Syndrome
High palate, Retrognathia, Micrognathia, Thin vermilion border, Long philtrum, Downturned corners... OMIM:613792
Intellectual Developmental Disorder, Autosomal Recessive 39
Dental malocclusion, Synophrys OMIM:615541
Growth Hormone Deficiency, Isolated Partial
Postnatal growth retardation, Decreased response to growth hormone stimulation test, Small pituit... OMIM:615925
Maxillonasal Dysplasia
Tooth agenesis, Cleft palate, Open bite, Microdontia, Hypoplasia of the maxilla, Mandibular progn... ORPHA:1248
Cowden Syndrome 5
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... OMIM:615108
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Dental malocclusion, Persistence of primary teeth, Malar flattening, Oligodontia, Microdontia, En... OMIM:618727
Fanconi Anemia, Complementation Group S
Thick upper lip vermilion, Dental malocclusion, Low anterior hairline, Ovarian neoplasm, Sparse h... OMIM:617883
Mcdonough Syndrome
Dental malocclusion, Sparse hair, Micrognathia, Short philtrum, Furrowed tongue, Synophrys, Mandi... OMIM:248950
X-Linked Intellectual Disability Due To Gria3 Mutations
Narrow palate, Macrodontia of permanent maxillary central incisor, Poor eye contact, Malar flatte... ORPHA:364028
Momo Syndrome
High palate, Dental malocclusion, Taurodontia, Retinal coloboma, Long philtrum, Delayed eruption ... OMIM:157980
Exudative Vitreoretinopathy 1
Exudative vitreoretinopathy, Vitreous hemorrhage, Posterior vitreous detachment, Peripheral retin... OMIM:133780
Blepharophimosis-Impaired Intellectual Development Syndrome
Sparse scalp hair, Dental malocclusion, Wide mouth, Low anterior hairline, Thick eyebrow, Overfri... OMIM:619293
Oculocutaneous Albinism Type 1
Abnormality of visual evoked potentials, Hypoplasia of the fovea, Depigmented fundus, Optic nerve... ORPHA:352731
Lowry-Maclean Syndrome
High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Downturned corners of mouth, Hypop... ORPHA:2409
Nance-Horan Syndrome
Mulberry molar, Diastema, Screwdriver-shaped incisors, Supernumerary maxillary incisor, Microphth... OMIM:302350
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly
Thin vermilion border, Premature loss of teeth, Short philtrum, Hypoplasia of the maxilla OMIM:156510
Odontoonychodermal Dysplasia
Sparse scalp hair, Palmoplantar hyperhidrosis, Widely spaced primary teeth, Hypodontia, Sparse ey... OMIM:257980
X-Linked Intellectual Disability, Sutherland-Haan Type
Mandibular prognathia, Hypoplasia of the maxilla, Decreased testicular size ORPHA:93950
Cowden Syndrome 6
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... OMIM:615109
Rapp-Hodgkin Syndrome
Cleft upper lip, Progressive alopecia, Narrow mouth, Velopharyngeal insufficiency, Sparse hair, C... OMIM:129400
Alpha-Mannosidosis
Dental malocclusion, Gingival overgrowth, Narrow palate, Macroglossia, Open bite, Widely spaced t... ORPHA:61
Craniofacial-Deafness-Hand Syndrome
Hypoplasia of the maxilla, Malar flattening OMIM:122880
Cleft Velum
Velopharyngeal insufficiency, Hypoplasia of the maxilla, Cleft soft palate ORPHA:99772
Beaulieu-Boycott-Innes Syndrome
Dental malocclusion, Velopharyngeal insufficiency, Micrognathia, Endometriosis, Carious teeth, Hi... OMIM:613680
Marshall Syndrome
Thick upper lip vermilion, Macrodontia of permanent maxillary central incisor, Malar flattening, ... OMIM:154780
Camptodactyly Syndrome, Guadalajara Type 1
High palate, Dental malocclusion, Narrow mouth, Open bite, Abnormality of dental eruption, Downtu... ORPHA:1327
Developmental And Epileptic Encephalopathy 83
Poor eye contact, Long philtrum, Hypoplasia of the fovea, Synophrys, High anterior hairline, High... OMIM:618744
Acrootoocular Syndrome
Dental malocclusion, Anodontia, Supernumerary tooth, Decreased response to growth hormone stimula... ORPHA:2980
Mandibulofacial Dysostosis With Alopecia
Cleft palate, Alopecia, Sparse eyelashes, Micrognathia, Everted lower lip vermilion, Glossoptosis... OMIM:616367
Pseudohermaphroditism, Female, With Skeletal Anomalies
Primary amenorrhea, Hypoplasia of the maxilla, Short mandibular condyles OMIM:264270
X-Linked Intellectual Disability, Porteous Type
Mandibular prognathia, Short philtrum, Hypoplasia of the maxilla, Frontal balding ORPHA:93945
Frontonasal Dysplasia 1
Median cleft palate, Microphthalmia, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Wido... OMIM:136760
Polydactyly, Postaxial, With Dental And Vertebral Anomalies
Dens in dente, Hypodontia, Macrodontia, Bifid uvula, Enamel hypoplasia, Mandibular prognathia, Lo... OMIM:263540
Ă…land Islands Eye Disease
Hypoplasia of the fovea, Hypopigmentation of the fundus ORPHA:178333
Intellectual Developmental Disorder, Autosomal Recessive 68
Broad eyebrow, Hypoplasia of the maxilla, Synophrys OMIM:618302
Autosomal Recessive Distal Osteolysis Syndrome
Abnormality of the dentition, Hypoplasia of the maxilla ORPHA:2776
Craniosynostosis, Calcification Of Basal Ganglia, And Facial Dysmorphism
Hypoplasia of the maxilla OMIM:608432
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome
Cachexia, Abnormality of visual evoked potentials ORPHA:1389
Crouzon Syndrome-Acanthosis Nigricans Syndrome
Optic atrophy, Hypoplasia of the maxilla, Abnormal palate morphology, Malar flattening ORPHA:93262
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy
High palate, Dental malocclusion, Low anterior hairline, Micrognathia, Optic atrophy, Deep philtr... ORPHA:329178
Cohen Syndrome
Aplasia/Hypoplasia of the tongue, Abnormality of the dentition, Short philtrum, Macrodontia, Opti... ORPHA:193
Lujan-Fryns Syndrome
High palate, Micrognathia, Abnormality of the dentition, Short philtrum, Hypoplasia of the maxill... ORPHA:776
Kdm5C-Related Syndromic X-Linked Intellectual Disability
High palate, Patchy alopecia, Hypoplasia of the maxilla, Decreased testicular size, Cryptorchidism ORPHA:85279
Cri-Du-Chat Syndrome
High palate, Overfriendliness, Premature graying of hair, Microretrognathia, Short philtrum, Ante... OMIM:123450
Tooth Agenesis, Selective, 4
Sparse scalp hair, Palmoplantar hyperhidrosis, Tooth agenesis, Sparse eyebrow, Short eyelashes, S... OMIM:150400
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome
Mandibular prognathia, Crowded maxillary incisors, Hypoplasia of the maxilla ORPHA:397973
Fanconi Anemia, Complementation Group J
Postnatal growth retardation, Intrauterine growth retardation, Microphthalmia OMIM:609054
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy
Abnormality of macular pigmentation, Dental malocclusion, Cone/cone-rod dystrophy OMIM:608940
Autosomal Recessive Spastic Paraplegia Type 77
Macrodontia of permanent maxillary central incisor, Retrognathia, Intention tremor, Bilateral cry... ORPHA:466722
Momo Syndrome
High palate, Dental malocclusion, Thick upper lip vermilion, Taurodontia, Long philtrum, Delayed ... ORPHA:2563
Tooth Agenesis, Selective, X-Linked, 1
Anodontia, Agenesis of molar, Tooth agenesis, Agenesis of premolar, Hypodontia, Agenesis of later... OMIM:313500
Incontinentia Pigmenti
Microphthalmia, Sparse hair, Supernumerary nipple, Alopecia, Retinal vascular proliferation, Hypo... OMIM:308300
Deafness-Intellectual Disability Syndrome, Martin-Probst Type
Dental malocclusion, Wide mouth, Malar flattening, Everted lower lip vermilion, Micrognathia, Abn... ORPHA:85321
Holoprosencephaly 9
Cleft upper lip, Hypoplasia of the premaxilla, Dental malocclusion, Cryptorchidism, Malar flatten... OMIM:610829
Osteolysis Syndrome, Recessive
Hypoplasia of the maxilla OMIM:259610
Aarskog-Scott Syndrome
Cleft upper lip, Cleft palate, Everted lower lip vermilion, Abnormality of the dentition, Long ph... ORPHA:915
Cowden Syndrome 1
Hydrocele testis, High palate, Narrow mouth, Hyperthyroidism, Ovarian cyst, Micrognathia, Intenti... OMIM:158350
Canavan Disease
Optic atrophy, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation ORPHA:141
Endosteal Hyperostosis, Autosomal Dominant
Dental malocclusion, Torus palatinus OMIM:144750
Congenital Hydrocephalus
Optic atrophy, Macular hypoplasia ORPHA:2185
Melanocytic Nevus Syndrome, Congenital
Everted lower lip vermilion, Prominence of the premaxilla, Long philtrum, Deep philtrum, Open mouth OMIM:137550
Trichorhinophalangeal Syndrome, Type I
Dental malocclusion, Leukonychia, Narrow palate, Sparse hair, Micrognathia, Thin eyebrow, Long ph... OMIM:190350
Sclerosteosis 1
Dental malocclusion, Tooth malposition, Malar flattening, Papilledema, Irregular menstruation, Op... OMIM:269500
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation
High palate, Exaggerated startle response, Tented upper lip vermilion, Incisor macrodontia, Abnor... ORPHA:438216
Muenke Syndrome
High palate, Dental malocclusion, Low anterior hairline, Malar flattening OMIM:602849
Hypohidrotic Ectodermal Dysplasia
Sinusitis, Tooth agenesis, Abnormal hair quantity, Aplasia/Hypoplasia of the eyebrow, Abnormality... ORPHA:238468
Agenesis Of The Corpus Callosum With Peripheral Neuropathy
High palate, Low anterior hairline, Tremor, Hypoplasia of the maxilla, Limb tremor OMIM:218000
Familial Benign Copper Deficiency
Early balding, Aplasia/Hypoplasia of the fovea, Short stature ORPHA:1551
Nablus Mask-Like Facial Syndrome
High palate, Narrow mouth, Low anterior hairline, Sparse hair, Sparse eyebrow, Sparse eyelashes, ... OMIM:608156
Acrodysostosis 1 With Or Without Hormone Resistance
Dental malocclusion, Decreased growth hormone responses to growth hormone-releasing hormone chall... OMIM:101800
20P12.3 Microdeletion Syndrome
Long philtrum, Hypoplasia of the maxilla, Narrow mouth, Malar flattening ORPHA:261295
Microcephaly-Capillary Malformation Syndrome
Optic atrophy, Cleft palate, Hypoplasia of the maxilla, Abnormal hair whorl OMIM:614261
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome
Thick upper lip vermilion, Dental malocclusion, Velopharyngeal insufficiency, Retrognathia, Abnor... ORPHA:363444
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia
Micrognathia, Microdontia, Widely spaced teeth, Conical tooth, Peg-shaped maxillary lateral incisors OMIM:610706
Isolated Aniridia
Aniridia, Aplasia/Hypoplasia of the macula ORPHA:250923
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate
Cleft upper lip, Supernumerary nipple, Patchy alopecia, Sparse eyelashes, Sparse body hair, Cleft... OMIM:106260
Premature Aging Syndrome, Penttinen Type
Sparse hair, Thin vermilion border, Micrognathia, Delayed eruption of teeth, Elevated circulating... OMIM:601812
Zimmermann-Laband Syndrome
High palate, Wide mouth, Supernumerary tooth, Thick eyebrow, Cleft palate, Hypodontia, Macrogloss... ORPHA:3473
Orofaciodigital Syndrome Type 2
High palate, Taurodontia, Agenesis of central incisor, Velopharyngeal insufficiency, Cleft palate... ORPHA:2751
Albinism, Oculocutaneous, Type Ii
Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, Red hair, Hypopigmentation of the fu... OMIM:203200
Trichothiodystrophy 2, Photosensitive
Agenesis of maxillary lateral incisor, Coarse hair, Tiger tail banding OMIM:616390
Hallermann-Streiff Syndrome
High palate, Sparse hair, Sparse eyebrow, Optic disc coloboma, Microphthalmia, Selective tooth ag... OMIM:234100
Auriculocondylar Syndrome
Dental malocclusion, Narrow mouth, Cleft palate, Glossoptosis, Micrognathia, Abnormality of the t... ORPHA:137888
Hypospadias, hypertelorism, upper LID coloboma, and mixed-type hearingloss
Dental malocclusion, Malar flattening, Everted lower lip vermilion, Thick vermilion border, Mandi... OMIM:603463
Ataxia With Vitamin E Deficiency
Tremor, Abnormality of visual evoked potentials, Abnormality of retinal pigmentation, Dystonia ORPHA:96
Optic Atrophy 8
Optic atrophy, Abnormality of pattern visual evoked potentials OMIM:616648
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked
Absent nipple, Sparse hair, Sparse eyebrow, Microdontia, Hypoplasia of the maxilla, Conical tooth... OMIM:305100
Coffin-Lowry Syndrome
High palate, Wide mouth, Abnormality of retinal pigmentation, Narrow palate, Hypodontia, Everted ... ORPHA:192
Malan Syndrome
Gingival overgrowth, Narrow mouth, Everted lower lip vermilion, Retrognathia, Advanced eruption o... OMIM:614753
Crouzon Syndrome
Optic atrophy, Narrow palate, Hypoplasia of the maxilla ORPHA:207
Robinow Syndrome, Autosomal Dominant 2
Dental malocclusion, Wide mouth, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathi... OMIM:616331
Pycnodysostosis
Obtuse angle of mandible, Dental malocclusion, High palate, Persistence of primary teeth, Decreas... ORPHA:763
Craniolenticulosutural Dysplasia
High palate, Wide mouth, Premature loss of teeth, Sparse hair, Brittle hair, Thin vermilion borde... ORPHA:50814
Craniofacial-Deafness-Hand Syndrome
Narrow mouth, Hypoplasia of the maxilla ORPHA:1529
Brachymetapody-Anodontia-Hypotrichosis-Albinoidism
Anodontia, Sparse hair, Sparse eyelashes, Absent pubic hair, Hypoplastic nipples, Distichiasis, H... OMIM:211370
Intellectual Developmental Disorder, X-Linked, Syndromic 14
High palate, Mandibular prognathia, Hypoplasia of the maxilla OMIM:300676
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
High palate, Dental malocclusion, Hypodontia, Bifid uvula, Delayed eruption of teeth OMIM:612350
Oculocutaneous Albinism Type 5
High palate, Ocular albinism, Hypoplasia of the fovea, Abnormal fundus morphology ORPHA:370091
Autosomal Dominant Optic Atrophy Plus Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Temporal optic disc pallor, Abnormal reti... ORPHA:1215
Lipodystrophy, Generalized, With Mental Retardation, Deafness, Short Stature, And Slender Bones
Sparse facial hair, Hypoplasia of the maxilla, Sparse axillary hair OMIM:608154
Spondylospinal Thoracic Dysostosis
Micrognathia, Hypoplasia of the maxilla OMIM:601809
Distal Xq28 Microduplication Syndrome
High palate, Poor eye contact, Aplasia/Hypoplasia of the eyebrow, Hypothyroidism, Short lingual f... ORPHA:293939
Intellectual Disability, Buenos-Aires Type
High palate, Dental malocclusion, Open bite, Abnormality of dental morphology, Fine hair, Mandibu... ORPHA:3079
Spastic Paraplegia 16, X-Linked
Hypoplasia of the maxilla OMIM:300266
Barber-Say Syndrome
Absent nipple, Dental malocclusion, Hypertrichosis, Low anterior hairline, High palate, Wide mout... OMIM:209885
Oculocutaneous Albinism Type 4
Abnormality of retinal pigmentation, Ocular albinism, Hypopigmentation of hair, Hypoplasia of the... ORPHA:79435
Cardioacrofacial Dysplasia 1
Accessory oral frenulum, Short philtrum, Diastema, Conical tooth, Hypoplasia of the maxilla OMIM:619142
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Hirsutism, Gingival overgrowth, Narrow mouth, Cryptorchidism, Malar flattening, Narrow palate, Re... OMIM:235510
8Q22.1 Microdeletion Syndrome
Sparse eyebrow, Sparse eyelashes, Abnormality of the dentition, Abnormal hair pattern, Long philt... ORPHA:178303
Orofacial Cleft 15
Sparse eyebrow, Sparse eyelashes, Agenesis of lateral incisor, Bilateral cleft palate, Palate fis... OMIM:616788
Cockayne Syndrome A
Dental malocclusion, Sparse hair, Cryptorchidism, Retinal pigment epithelial mottling, Dry hair, ... OMIM:216400
Dislocation Of The Hip-Dysmorphism Syndrome
Abnormal palate morphology, Narrow mouth, Malar flattening, Prominence of the premaxilla ORPHA:2412
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome
Thick eyebrow, Microretrognathia, Long philtrum, Hypoplasia of the maxilla, Absent eyelashes, Thi... ORPHA:228396
Acrodysostosis
Open bite, Open mouth, Irregular menstruation, Delayed eruption of teeth, Hypoplasia of the maxil... ORPHA:950
Distal Limb Deficiencies-Micrognathia Syndrome
High palate, Narrow mouth, Microretrognathia, Cleft palate, Microdontia, Hypoplasia of the maxill... ORPHA:1307
Lessel-Kreienkamp Syndrome
Dental malocclusion, Thin upper lip vermilion, Open mouth OMIM:619149
Crouzon Syndrome
Optic atrophy, Hypoplasia of the maxilla, Dysgerminoma, Dental crowding, Mandibular prognathia OMIM:123500
Neurodevelopmental Disorder With Midbrain And Hindbrain Malformations
Optic disc pallor, Abnormality of visual evoked potentials, Long eyelashes OMIM:617523
Short Syndrome
Dental malocclusion, Hypodontia, Micrognathia, Delayed eruption of teeth, Downturned corners of m... OMIM:269880
Pelizaeus-Merzbacher Disease
Cachexia, Abnormality of visual evoked potentials, Failure to thrive in infancy, Choreoathetosis,... ORPHA:702
Martin-Probst Syndrome
Dental malocclusion, Chordee, Wide mouth, Malar flattening, Micrognathia, Hypoplastic nipples, Hy... OMIM:300519
Non-Specific Syndromic Intellectual Disability
High palate, Narrow mouth, Papilledema, Micrognathia, Frontal upsweep of hair, Thin vermilion bor... ORPHA:528084
Oculocutaneous Albinism Type 1A
Ocular albinism, Abnormality of visual evoked potentials, Hypopigmentation of hair, Hypoplasia of... ORPHA:79431
Multicentric Carpotarsal Osteolysis Syndrome
Micrognathia, Hypoplasia of the maxilla OMIM:166300
Hamamy Syndrome
Hypoparathyroidism, Dental malocclusion, High palate, Wide mouth, Sparse hair, Sparse eyebrow, Sp... OMIM:611174
Nasopalpebral Lipoma-Coloboma Syndrome
Microphthalmia, Hypoplasia of the maxilla, Sparse eyebrow, Widow's peak OMIM:167730
Jackson-Weiss Syndrome
Abnormal palate morphology, Mandibular prognathia, Hypoplasia of the maxilla ORPHA:1540
Takenouchi-Kosaki Syndrome
Dental malocclusion, Wide mouth, Sparse eyebrow, Short philtrum, Long philtrum, Optic atrophy, Do... OMIM:616737
Elsahy-Waters Syndrome
High palate, Dental malocclusion, Supernumerary tooth, Thick eyebrow, Malar flattening, Increased... OMIM:211380
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1
High palate, Everted lower lip vermilion, Long philtrum, Anterior open-bite malocclusion, Synophr... OMIM:617877
Mohr-Tranebjaerg Syndrome
Oromandibular dystonia, Abnormality of visual evoked potentials, Optic atrophy, Tremor, Focal dys... ORPHA:52368
Meier-Gorlin Syndrome 4
Narrow mouth, Micrognathia, Hypoplasia of the maxilla, Breast hypoplasia, Cryptorchidism, Thick l... OMIM:613804
Phelan-Mcdermid Syndrome
High palate, Dental malocclusion, Thick eyebrow, Poor eye contact, Malar flattening, Micrognathia... OMIM:606232
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement
High palate, Dental malocclusion, Narrow mouth, Sparse hair, Cleft palate, Micrognathia, Abnormal... ORPHA:251028
Ectodermal Dysplasia And Immunodeficiency 1
Aplasia of the eccrine sweat glands, Conical incisor, Sparse hair OMIM:300291
Linear Verrucous Nevus Syndrome
Sparse scalp hair, Retinopathy, Aplasia/Hypoplasia of the fovea ORPHA:2611
Pde4D Haploinsufficiency Syndrome
Malar flattening, Micrognathia, Short philtrum, Long philtrum, Hypoplasia of the maxilla, Mandibu... ORPHA:439822
Axenfeld-Rieger Syndrome, Type 2
Hypodontia, Everted lower lip vermilion, Short philtrum, Microdontia, Hypoplasia of the maxilla, ... OMIM:601499
Male Pseudohermaphroditism/Mental Retardation Syndrome, Verloes Type
Growth delay, Bilateral microphthalmos, Postnatal growth retardation, Low posterior hairline, Cho... OMIM:600122
Autosomal Dominant Keratitis
Hypoplastic iris stroma, Hypoplasia of the fovea, Bilateral microphthalmos, Macular hypoplasia, A... ORPHA:2334
Cerebellofaciodental Syndrome
Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary central incisor, Sparse eyeb... OMIM:616202
Oculoauricular Syndrome
Microphakia, Microphthalmia, Rod-cone dystrophy, Short mandibular rami, Retinal coloboma, Morning... OMIM:612109
Andersen Cardiodysrhythmic Periodic Paralysis
High palate, Prominent frontal sinuses, Persistence of primary teeth, Malar flattening, Short man... OMIM:170390
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type
High palate, Micrognathia, Short philtrum, Impaired social interactions, Deep philtrum, Hypoplasi... OMIM:309520
Amelogenesis Imperfecta, Type Iv
Enamel hypoplasia, Yellow-brown discoloration of the teeth, Taurodontia, Amelogenesis imperfecta OMIM:104510
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome
Agenesis of central incisor, Long upper lip, Cleft palate, Everted lower lip vermilion, Prominenc... ORPHA:364577
Dihydropyrimidine Dehydrogenase Deficiency
High palate, Short nail, Retrognathia, Open mouth, Abnormal social behavior, Delayed eruption of ... ORPHA:1675
Gm2 Gangliosidosis, Ab Variant
Exaggerated startle response, Cherry red spot of the macula, Short stature, Postnatal growth reta... ORPHA:309246
Myopathy, Myofibrillar, 8
Dental malocclusion, Micrognathia, High palate OMIM:617258
Angelman Syndrome
Wide mouth, Fair hair, Macroglossia, Widely spaced teeth, Protruding tongue, Hypoplasia of the ma... OMIM:105830
Progeria-Short Stature-Pigmented Nevi Syndrome
Neoplasm of the pancreas, Dental malocclusion, Selective tooth agenesis, Fragile teeth, Hypodonti... ORPHA:2959
Keipert Syndrome
Hypoplasia of the maxilla, Tented upper lip vermilion, Exaggerated cupid's bow ORPHA:2662
Treacher-Collins Syndrome
High palate, Wide mouth, Cleft palate, Abnormality of the dentition, Hypoplasia of the maxilla, T... ORPHA:861
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome
High, narrow palate, Long philtrum, Anophthalmia, Hypoplasia of the maxilla, Abnormal vitreous hu... ORPHA:1101
Cardiofaciocutaneous Syndrome 1
High palate, Dental malocclusion, Absent eyebrow, Sparse hair, Open bite, Open mouth, Micrognathi... OMIM:115150
Axenfeld-Rieger Syndrome
Hypodontia, Everted lower lip vermilion, Microdontia, Hypoplasia of the maxilla, Aplasia/Hypoplas... ORPHA:782
Myopathy, Centronuclear, X-Linked
High palate, Dental malocclusion, Cryptorchidism OMIM:310400
Three M Syndrome 2
High palate, Dental malocclusion, Malar flattening, Long philtrum, Delayed eruption of teeth, Thi... OMIM:612921
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome
Elevated circulating luteinizing hormone level, Sparse pubic hair, Breast aplasia, Hypoplasia of ... ORPHA:3044
Seckel Syndrome 1
High palate, Dental malocclusion, Cleft palate, Micrognathia, Enamel hypoplasia, Dental crowding,... OMIM:210600
Nager Syndrome
Wide mouth, Cleft palate, Aplasia/Hypoplasia of the eyebrow, Micrognathia, Hypoplasia of the zygo... ORPHA:245
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type
Cholelithiasis, High palate, Thick eyebrow, Patchy alopecia, Micrognathia, Diastema, Furrowed ton... OMIM:300534
Cerebellar-Facial-Dental Syndrome
Alveolar ridge overgrowth, Dental malocclusion, Taurodontia, Macrodontia of permanent maxillary c... ORPHA:444072
Cockayne Syndrome B
Dental malocclusion, Abnormal hair morphology, Sparse hair, Cryptorchidism, Dry hair, Pigmentary ... OMIM:133540
Ellis Van Creveld Syndrome
Abnormal hair quantity, Cryptorchidism, Hypodontia, Thin vermilion border, Abnormality of the den... ORPHA:289
Larsen-Like Syndrome
Dental malocclusion, Cleft palate, Malar flattening OMIM:608545
Oliver Syndrome
High palate, Dental malocclusion, Thick eyebrow, Supernumerary nipple, Short philtrum, Mandibular... ORPHA:2920
Micro Syndrome
Generalized hirsutism, Abnormality of retinal pigmentation, Short stature, Retinal coloboma, Abno... ORPHA:2510
Van Maldergem Syndrome 2
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... OMIM:615546
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities
Rieger anomaly, Hypoplasia of the maxilla, Malar flattening OMIM:109120
Harrod Syndrome
High palate, Dental malocclusion, Cryptorchidism, Narrow mouth ORPHA:2115
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome
Dental malocclusion, Maxillary lateral incisor microdontia, Abnormality of hair texture, Thick ey... ORPHA:73223
Carpenter Syndrome 1
High palate, Persistence of primary teeth, Malar flattening, Micrognathia, Agenesis of permanent ... OMIM:201000
Dysostosis, Stanescu Type
Tooth agenesis, Macroglossia, Abnormality of the dentition, Hypoplasia of the zygomatic bone, Car... ORPHA:1798
Harrod Syndrome
High palate, Dental malocclusion, Narrow mouth, High, narrow palate, Cryptorchidism OMIM:601095
Hermansky-Pudlak Syndrome 4
Albinism, Menorrhagia, Hypoplasia of the fovea, Ocular albinism OMIM:614073
Cockayne Syndrome
Retinal degeneration, Dry hair, Retinal dystrophy, Carious teeth, Optic atrophy, Optic disc pallo... ORPHA:191
Hermansky-Pudlak Syndrome 11
Ocular albinism, Fair hair, Menorrhagia, Hypoplasia of the fovea, Gingival bleeding, Albinism OMIM:619172
Aicardi Syndrome
Cleft upper lip, Abnormality of retinal pigmentation, Cleft palate, Prominence of the premaxilla,... ORPHA:50
Mohr Syndrome
High palate, Accessory oral frenulum, Agenesis of central incisor, Malar flattening, Cleft palate... OMIM:252100
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1
High palate, Bull's eye maculopathy, Hypertrichosis, Low anterior hairline, Thick eyebrow, Decrea... OMIM:213980
Kabuki Syndrome 2
High palate, Dental malocclusion, Hirsutism, Hypodontia, Cleft palate, Micrognathia, Long eyelash... OMIM:300867
Mitochondrial Dna Depletion Syndrome, Encephalomyopathic Form With Methylmalonic Aciduria
Generalized hirsutism, Abnormality of visual evoked potentials, Short stature ORPHA:1933
Mandibulofacial Dysostosis-Microcephaly Syndrome
Accessory oral frenulum, Cleft palate, Malar flattening, Micrognathia, Hypoplasia of the maxilla ORPHA:79113
Noonan Syndrome 4
Dental malocclusion, Wide mouth, Cryptorchidism, Sparse eyebrow, Thick vermilion border, High ant... OMIM:610733
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation
Dental malocclusion, Tooth agenesis, Supernumerary nipple, Cleft palate, Open bite, Open mouth, O... ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion
Dental malocclusion, Tooth agenesis, Supernumerary nipple, Cleft palate, Open bite, Open mouth, O... ORPHA:352665
Developmental And Epileptic Encephalopathy 3
Abnormality of visual evoked potentials OMIM:609304
7Q11.23 Microduplication Syndrome
High palate, Dental malocclusion, Retrognathia, Micrognathia, Short philtrum, Thin vermilion bord... ORPHA:96121
Aarskog-Scott Syndrome
Cleft upper lip, Testicular atrophy, Cryptorchidism, Cleft palate, Hypodontia, Elevated circulati... OMIM:305400
Apert Syndrome
Narrow palate, Ovarian neoplasm, Cleft palate, Delayed eruption of teeth, Bifid uvula, Optic atro... ORPHA:87
Atelosteogenesis, Type Iii
Micrognathia, Cleft palate, Hypoplasia of the maxilla, Malar flattening OMIM:108721
Saethre-Chotzen Syndrome
Low anterior hairline, Narrow palate, Blepharospasm, Cleft palate, Open bite, Abnormal hair patte... ORPHA:794
Mccune-Albright Syndrome
Dental malocclusion, Elevated circulating growth hormone concentration, Pancreatitis, Abnormal fa... ORPHA:562
Hermansky-Pudlak Syndrome 8
Ocular albinism, Menorrhagia, Hypoplasia of the fovea, Optic disc pallor, Albinism, Gingival blee... OMIM:614077
Van Maldergem Syndrome 1
High palate, Dental malocclusion, Malar flattening, Micrognathia, Downturned corners of mouth, Ir... OMIM:601390
Martsolf Syndrome 1
High palate, Low anterior hairline, Tooth malposition, Micrognathia, Hypogonadotropic hypogonadis... OMIM:212720
Incisors, Lower Central, Absence Of
Agenesis of mandibular central incisor OMIM:147330
Central Incisors, Absence Of
Agenesis of central incisor OMIM:302400
Bosma Arhinia Microphthalmia Syndrome
High palate, Dental malocclusion, Paranasal sinus hypoplasia, Cleft palate, Hypogonadotropic hypo... OMIM:603457
Pallister W Syndrome
Agenesis of central incisor, Frontal upsweep of hair, Broad uvula, Agenesis of maxillary central ... OMIM:311450
Peroxisomal Acyl-Coa Oxidase Deficiency
Failure to thrive, Abnormality of visual evoked potentials ORPHA:2971
Gorlin-Chaudhry-Moss Syndrome
Generalized hirsutism, Low anterior hairline, Abnormality of the dentition, Coarse hair, Oligodon... ORPHA:2095
Andersen-Tawil Syndrome
High palate, Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Oligodonti... ORPHA:37553
Hermansky-Pudlak Syndrome 6
Albinism, Absent foveal reflex, Ocular albinism, Macular hypoplasia OMIM:614075
Microphthalmia, Syndromic 2
Adrenal insufficiency, Dental malocclusion, Remnants of the hyaloid vascular system, Supernumerar... OMIM:300166
Xq12-Q13.3 Duplication Syndrome
Optic disc pallor, Abnormality of visual evoked potentials, Cryptorchidism, Short stature ORPHA:314389
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant
Dental malocclusion, Micrognathia, Malar flattening OMIM:608257
Frontorhiny
Cleft palate, Bifid tongue, Hypoplastic frontal sinuses, Hypoplasia of the maxilla, Widow's peak,... ORPHA:391474
Frontometaphyseal Dysplasia 1
High palate, Dental malocclusion, Hirsutism, Persistence of primary teeth, Cleft palate, Delayed ... OMIM:305620
Warburg Micro Syndrome 2
Low anterior hairline, Optic atrophy, Undetectable visual evoked potentials, Microphthalmia, Post... OMIM:614225
Oculocutaneous Albinism Type 1B
Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism,... ORPHA:79434
Nasopalpebral Lipoma-Coloboma Syndrome
Sparse eyebrow, Abnormal eyelash morphology, Hypoplasia of the maxilla, Bilateral microphthalmos,... ORPHA:2399
Localized Scleroderma
Dental malocclusion, Abnormal facial skeleton morphology, Patchy alopecia, Abnormality of the den... ORPHA:90289
Hermansky-Pudlak Syndrome 5
Ocular albinism, Metrorrhagia, Menorrhagia, Hypoplasia of the fovea, Albinism OMIM:614074
Osteopetrosis, Autosomal Recessive 3
Dental malocclusion, Optic nerve compression OMIM:259730
Chediak-Higashi Syndrome
Periodontitis, Ocular albinism, Hypopigmentation of hair, Silver-gray hair, Tremor, Gingivitis, M... OMIM:214500
Kagami-Ogata Syndrome
Retrognathia, Micrognathia, Long philtrum, Frontal hirsutism, Hypoplasia of the maxilla OMIM:608149
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Dental malocclusion, Narrow palate, Supernumerary tooth, Hypodontia, Retinopathy, Carious teeth, ... ORPHA:353281
Congenital Sialidosis Type 2
Gingival overgrowth, Cherry red spot of the macula, Yellow/white lesions of the retina, Hypoplasi... ORPHA:93400
Rubinstein-Taybi Syndrome 1
High palate, Cleft palate, Facial hypertrichosis, Long eyelashes, Hypoplasia of the maxilla, Bila... OMIM:180849
Cerebellar Atrophy, Visual Impairment, And Psychomotor Retardation
Optic atrophy, Abnormality of visual evoked potentials, Low anterior hairline, Dystonia OMIM:616875
Jacobsen Syndrome
Annular pancreas, U-Shaped upper lip vermilion, Microphthalmia, Micrognathia, Optic atrophy, Abno... OMIM:147791
Peroxisome Biogenesis Disorder 12A (Zellweger)
Cholelithiasis, Abnormality of the hairline, Prominence of the premaxilla OMIM:614886
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials OMIM:601152
Arboleda-Tham Syndrome
Wide mouth, Narrow mouth, Microretrognathia, Cleft palate, Thin eyebrow, Sparse medial eyebrow, S... OMIM:616268
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy
High palate, Thin vermilion border, Broad eyebrow, Long philtrum, Hypoplasia of the maxilla, Smoo... ORPHA:481152
Myopathy, Congenital, With Diaphragmatic Defects, Respiratory Insufficiency, And Dysmorphic Facies
High palate, Dental malocclusion, Cleft palate, Long philtrum, Tented upper lip vermilion, Mandib... OMIM:618975
Ichthyosis, Spastic Quadriplegia, And Mental Retardation
Growth delay, Abnormality of visual evoked potentials OMIM:614457
Otofaciocervical Syndrome 2, With T-Cell Deficiency
Dental malocclusion, Microretrognathia, Carious teeth OMIM:615560
Robinow Syndrome, Autosomal Dominant 3
Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Micrognathia, Agenesis ... OMIM:616894
Aicardi Syndrome
Cleft upper lip, Cleft palate, Prominence of the premaxilla, Retinal detachment, Optic disc colob... OMIM:304050
Branchioskeletogenital Syndrome
Absent nipple, Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Shor... ORPHA:1299
Dyskeratosis Congenita
Neoplasm of the pancreas, Abnormal eyebrow morphology, Periodontitis, Taurodontia, Sparse hair, H... ORPHA:1775
Schwartz-Jampel Syndrome
High palate, Dental malocclusion, Abnormal eyebrow morphology, Generalized hirsutism, Supernumera... ORPHA:800
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome
Dental malocclusion, Wide mouth, Sparse eyebrow, Short philtrum, Long philtrum, Optic atrophy, Do... ORPHA:487796
Achromatopsia 2
Absent foveal reflex, Dull foveal reflex, Retinal thinning, Hypoplasia of the fovea, Peripapillar... OMIM:216900
Nestor-Guillermo Progeria Syndrome
Sparse scalp hair, Dental malocclusion, Microretrognathia, Sparse eyebrow, Alopecia, Sparse eyela... OMIM:614008
3Mc Syndrome 2
Cleft upper lip, Torticollis, Cleft palate, Prominence of the premaxilla, Downturned corners of m... OMIM:265050
Doors Syndrome
High palate, Gingival overgrowth, Low anterior hairline, Macrodontia of permanent maxillary centr... ORPHA:79500
Ruvalcaba Syndrome
Generalized hirsutism, Abnormality of visual evoked potentials, Delayed puberty, Cryptorchidism, ... ORPHA:3121
Meier-Gorlin Syndrome 5
Micrognathia, Long philtrum, Hypoplasia of the maxilla, Thick vermilion border, Cryptorchidism, S... OMIM:613805
Marshall-Smith Syndrome
High palate, Hypertrichosis, Gingival overgrowth, Microretrognathia, Thick eyebrow, Sparse hair, ... OMIM:602535
Charcot-Marie-Tooth Disease, Type 4D
Abnormality of visual evoked potentials OMIM:601455
Autosomal Recessive Spastic Paraplegia Type 44
Abnormality of visual evoked potentials ORPHA:320401
Brachytelephalangic Chondrodysplasia Punctata
Optic nerve hypoplasia, Hypoplasia of the maxilla, Optic disc hypoplasia, Hypoplasia of the anter... ORPHA:79345
Achalasia-Addisonianism-Alacrima Syndrome
Decreased circulating aldosterone level, Short stature, Decreased circulating cortisol level, Abn... OMIM:231550
Subaortic Stenosis--Short Stature Syndrome
Narrow mouth, Malar flattening, Diastema, Hypoplasia of the maxilla, Microphthalmia, Short upper lip OMIM:271960
W Syndrome
Agenesis of maxillary central incisor, Broad uvula, Abnormality of the scalp hair, Upper lip pit,... ORPHA:2804
Microphthalmia With Limb Anomalies
High palate, Hypoplasia of the premaxilla, Abnormal eyebrow morphology, Cleft upper lip, Cleft pa... ORPHA:1106
Craniofaciofrontodigital Syndrome
Dental malocclusion, Long philtrum, Abnormality of the dentition OMIM:114620
Myhre Syndrome
Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ... ORPHA:2588
Chand Syndrome
Agenesis of maxillary incisor, Cleft palate, Agenesis of permanent teeth, Bifid tongue, Hypohidro... ORPHA:1401
Meier-Gorlin Syndrome 3
Narrow mouth, Microretrognathia, Sparse axillary hair, Micrognathia, Sparse pubic hair, Breast hy... OMIM:613803
Hajdu-Cheney Syndrome
High palate, Dental malocclusion, Hirsutism, Premature loss of teeth, Thick eyebrow, Short nail, ... OMIM:102500
Multiple Pterygium Syndrome, Escobar Variant
High palate, Dental malocclusion, Narrow mouth, Triangular mouth, Cleft palate, Micrognathia, Lon... OMIM:265000
Anterior Segment Dysgenesis 5
Rieger anomaly, Microphthalmia, Hypoplasia of the fovea, Hypoplasia of the iris OMIM:604229
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect
Optic atrophy, Optic disc pallor, Abnormality of visual evoked potentials, Growth delay ORPHA:485421
Peters-Plus Syndrome
Cleft upper lip, Cryptorchidism, Cleft palate, Retinal coloboma, Micrognathia, Thin vermilion bor... OMIM:261540
Apert Syndrome
Dental malocclusion, Narrow palate, Malar flattening, Cleft palate, Delayed eruption of teeth, Bi... OMIM:101200
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3
Cleft palate, Sparse eyebrow, Facial hirsutism, Microdontia, Carious teeth, Hypoplasia of the max... OMIM:604292
Pfeiffer Syndrome
High palate, Mandibular prognathia, Hypoplasia of the maxilla, Dental crowding OMIM:101600
Shprintzen-Goldberg Craniosynostosis Syndrome
High palate, Dental malocclusion, Narrow palate, Micrognathia, Hypoplasia of the maxilla, Cryptor... OMIM:182212
Robinow Syndrome
Dental malocclusion, Gingival overgrowth, Persistence of primary teeth, Triangular mouth, Tooth m... ORPHA:97360
Spondyloenchondrodysplasia
Hypothyroidism, Dental malocclusion, Decreased response to growth hormone stimulation test, Delay... ORPHA:1855
X-Linked Recessive Ocular Albinism
Abnormal macular morphology, Ocular albinism, Hypoplasia of the fovea ORPHA:54
Goldberg-Shprintzen Syndrome
Thick eyebrow, Sparse hair, Everted lower lip vermilion, Short philtrum, Hypoplasia of the maxill... OMIM:609460
Turnpenny-Fry Syndrome
Sparse scalp hair, Dental malocclusion, High palate, Narrow mouth, Torticollis, Malar flattening,... OMIM:618371
Stickler Syndrome
Cleft upper lip, Tooth agenesis, Malar flattening, Cleft palate, Open bite, Micrognathia, Glossop... ORPHA:828
Hydrocephalus, Congenital, 2, With Or Without Brain Or Eye Anomalies
Optic atrophy, Macular hypoplasia OMIM:615219
Faciodigitogenital Syndrome, Autosomal Recessive
High palate, Dental malocclusion, Wide mouth, Narrow palate, Cryptorchidism, Deep philtrum, Widow... OMIM:227330
Oculocutaneous Albinism Type 2
Abnormality of retinal pigmentation, Hypopigmentation of hair, Hypoplasia of the fovea, Optic ner... ORPHA:79432
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1
Sparse hair, Cleft palate, Sparse eyebrow, Microdontia, Carious teeth, Hypoplasia of the maxilla,... OMIM:129900
Metachromatic Leukodystrophy, Juvenile Form
Optic atrophy, Dystonia, Abnormality of visual evoked potentials, Intention tremor ORPHA:309263
Osteopathia Striata With Cranial Sclerosis
High palate, Dental malocclusion, Cleft upper lip, Paranasal sinus hypoplasia, Cleft palate, Micr... OMIM:300373
Focal Dermal Hypoplasia
Cleft upper lip, Dental malocclusion, Sparse hair, Brittle hair, Supernumerary nipple, Patchy alo... OMIM:305600
Late Infantile Neuronal Ceroid Lipofuscinosis
Abnormality of visual evoked potentials, Abnormal amplitude of flash visual evoked potentials, Re... ORPHA:168491
Aniridia 1
Optic nerve hypoplasia, Chorioretinal hypopigmentation, Hypoplasia of the fovea, Retinal vascular... OMIM:106210
Infantile Neuroaxonal Dystrophy
Optic atrophy, Abnormality of visual evoked potentials, Dystonia ORPHA:35069
Neurodegeneration With Brain Iron Accumulation 2A
Optic atrophy, Abnormality of visual evoked potentials OMIM:256600
Ear-Patella-Short Stature Syndrome
Narrow mouth, High, narrow palate, Cleft palate, Retrognathia, Micrognathia, Bifid uvula, Breast ... ORPHA:2554
Persistent Hyperplastic Primary Vitreous
Remnants of the hyaloid vascular system, Microphthalmia, Hyaloid vascular remnant and retrolental... ORPHA:91495
Cln5 Disease
Tremor, Abnormality of visual evoked potentials ORPHA:228360
Ctcf-Related Neurodevelopmental Disorder
Hypertrichosis, Narrow mouth, Thick eyebrow, Macrodontia of permanent maxillary central incisor, ... ORPHA:363611
Facial Dysmorphism, Lens Dislocation, Anterior Segment Abnormalities, And Spontaneous Filtering Blebs
High palate, Dental malocclusion, Malar flattening, Retrognathia, Bifid uvula, Microphthalmia OMIM:601552
Axenfeld-Rieger Syndrome, Type 1
Hypodontia, Decreased response to growth hormone stimulation test, Short philtrum, Oligodontia, M... OMIM:180500
Pierson Syndrome
Remnants of the hyaloid vascular system, Microphthalmia, Retinal detachment, Retinal hemorrhage, ... OMIM:609049
46,Xx Disorder Of Sex Development-Skeletal Anomalies Syndrome
Hypoplasia of the premaxilla, Mandibular condyle hypoplasia, Micrognathia, Primary amenorrhea ORPHA:2975
Acrofacial Dysostosis, Cincinnati Type
Cleft palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Aplastic zygomatic arch OMIM:616462
Ablepharon Macrostomia Syndrome
Wide mouth, Absent eyebrow, Sparse hair, Thin vermilion border, Abnormal hair pattern, Microdonti... ORPHA:920
Craniosynostosis And Dental Anomalies
High palate, Dental malocclusion, Narrow palate, Supernumerary tooth, Papilledema, Delayed erupti... OMIM:614188
Faciocardiomelic Syndrome
Dental malocclusion, Wide mouth, Short eyelashes, Micrognathia, Hyperplasia of the maxilla, Long ... OMIM:612731
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1
Abnormality of visual evoked potentials, Nonarteritic anterior ischemic optic neuropathy OMIM:125310
Distal Monosomy 19P13.3
Thick eyebrow, Cleft palate, Alopecia, Short philtrum, Hypoplasia of the maxilla ORPHA:96129
Isolated Cleft Lip
Velopharyngeal insufficiency, Hypodontia, Macrodontia, Supernumerary maxillary incisor, Bilateral... ORPHA:199302
Chilton-Okur-Chung Neurodevelopmental Syndrome
Wide mouth, Sparse hair, Sparse eyebrow, Short philtrum, Long eyelashes, Mandibular prognathia, A... OMIM:619841
Geroderma Osteodysplasticum
Mandibular prognathia, Periodontitis, Hypoplasia of the maxilla, Malar flattening OMIM:231070
Meier-Gorlin Syndrome 1
High palate, Narrow mouth, Cleft palate, Micrognathia, Microdontia, Long eyelashes, Hypoplasia of... OMIM:224690
Global Developmental Delay-Visual Anomalies-Progressive Cerebellar Atrophy-Truncal Hypotonia Syndrome
Optic atrophy, Abnormality of visual evoked potentials, Low anterior hairline ORPHA:480898
Weill-Marchesani Syndrome 1
Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abnormality of de... OMIM:277600
Mogs-Cdg
Hydrocele testis, Hirsutism, Fair hair, Alopecia, Abnormality of visual evoked potentials, Hypoth... ORPHA:79330
Late-Infantile/Juvenile Krabbe Disease
Tremor, Abnormality of visual evoked potentials ORPHA:206443
Oculocutaneous Albinism
Ocular albinism, Hypopigmentation of hair, Hypoplasia of the fovea, White eyebrow, White eyelashe... ORPHA:55
Metachromatic Leukodystrophy, Late Infantile Form
Optic atrophy, Abnormality of visual evoked potentials, Dystonia ORPHA:309256
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Hydrocele testis, Dental malocclusion, High palate, Narrow palate, Supernumerary tooth, Hypodonti... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Hydrocele testis, Dental malocclusion, High palate, Narrow palate, Supernumerary tooth, Hypodonti... ORPHA:353277
Multicentric Osteolysis, Nodulosis, And Arthropathy
Gingival overgrowth, Hirsutism, Micrognathia, Delayed eruption of teeth, Hypoplasia of the maxilla OMIM:259600
Branchiooculofacial Syndrome
Cleft upper lip, Premature graying of hair, Sparse hair, Malar flattening, Cleft of chin, Supernu... OMIM:113620
Zttk Syndrome
High palate, Narrow mouth, Sparse eyebrow, Thin vermilion border, Abnormality of the dentition, B... OMIM:617140
Infantile Krabbe Disease
Opisthotonus, Failure to thrive, Abnormality of visual evoked potentials, Cachexia ORPHA:206436
Van Den Ende-Gupta Syndrome
High palate, Abnormal eyebrow morphology, Narrow mouth, High, narrow palate, Malar flattening, Cl... OMIM:600920
White-Sutton Syndrome
Sparse hair, Rod-cone dystrophy, Short stature, Optic nerve hypoplasia, Abnormality of visual evo... OMIM:616364
Metachromatic Leukodystrophy, Adult Form
Intention tremor, Abnormality of visual evoked potentials, Optic atrophy, Dystonia, Neoplasm of t... ORPHA:309271
Cerebrofacioarticular Syndrome
Micrognathia, Narrow mouth, Hypoplasia of the maxilla, Irregular dentition ORPHA:314679
Lacrimoauriculodentodigital Syndrome
Aplasia of the parotid gland, Hypodontia, Absence of Stensen duct, Xerostomia, Carious teeth, Ena... OMIM:149730
Albinism, Oculocutaneous, Type Ia
Ocular albinism, Hypopigmentation of hair, Hypoplasia of the fovea, Albinism, White hair OMIM:203100
Camptodactyly Syndrome, Guadalajara, Type I
High palate, Dental malocclusion, Narrow mouth, Malar flattening, Abnormality of dental eruption,... OMIM:211910
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome
Sparse eyebrow, Sparse eyelashes, Cleft palate, Hypoplasia of the maxilla, Hypoplasia of the fron... ORPHA:306542
Myhre Syndrome
Narrow mouth, Thick eyebrow, Sparse hair, Malar flattening, Cleft palate, Short philtrum, Cleft l... OMIM:139210
Shprintzen-Goldberg Syndrome
High, narrow palate, Retrognathia, Micrognathia, Hypoplasia of the maxilla, Cryptorchidism ORPHA:2462
Frank-Ter Haar Syndrome
High palate, Dental malocclusion, Gingival overgrowth, Wide mouth, Micrognathia, Broad alveolar r... OMIM:249420
Coffin-Lowry Syndrome
High palate, Dental malocclusion, Narrow palate, Thick eyebrow, Hypodontia, Everted lower lip ver... OMIM:303600
Friedreich Ataxia
Optic atrophy, Abnormality of visual evoked potentials OMIM:229300
Williams Syndrome
Cholelithiasis, Wide mouth, Abnormal social behavior, Microdontia, Carious teeth, Tremor, Polycys... ORPHA:904
Knobloch Syndrome 1
Chorioretinal atrophy, Retinal detachment, Attenuation of retinal blood vessels, Vitreoretinopath... OMIM:267750
Bartsocas-Papas Syndrome 1
Sparse scalp hair, Cleft upper lip, Absent eyebrow, Cleft palate, Alopecia, Micrognathia, Alopeci... OMIM:263650
Weill-Marchesani Syndrome 2
High palate, Microspherophakia, Narrow palate, Tooth malposition, Hypoplasia of the maxilla, Abno... OMIM:608328
Greenberg Dysplasia
Retrognathia, Micrognathia, Neonatal death, Pancreatic islet-cell hyperplasia, Hypoplasia of the ... OMIM:215140
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14
Narrow mouth, Macroglossia, Retrognathia, Micrognathia, Peripheral retinal avascularization, Shor... ORPHA:96334
Hermansky-Pudlak Syndrome
Ocular albinism, Abnormality of visual evoked potentials, Hypopigmentation of hair, Long eyelashe... ORPHA:79430
Fraser Syndrome 1
Cleft upper lip, Dental malocclusion, Extension of hair growth on temples to lateral eyebrow, Abs... OMIM:219000
Osteogenesis Imperfecta
Abnormal dental enamel morphology, Dental malocclusion, Dentinogenesis imperfecta, Micrognathia, ... ORPHA:666
Monosomy 22Q13.3
Dental malocclusion, Thick eyebrow, Malar flattening, Hypohidrosis, Long eyelashes, Dental crowding ORPHA:48652
Carpenter Syndrome 2
High palate, Dental malocclusion, Low anterior hairline, Narrow palate, Cryptorchidism, Sparse ey... OMIM:614976
Holoprosencephaly 2
Remnants of the hyaloid vascular system, Malar flattening, Bifid uvula, Bilateral cleft lip and p... OMIM:157170
Neuroocular Syndrome
Remnants of the hyaloid vascular system, Thick eyebrow, Brittle hair, Retrognathia, Short uvula, ... OMIM:619539
Mitochondrial Dna Depletion Syndrome 4A (Alpers Type)
Failure to thrive, Abnormality of visual evoked potentials OMIM:203700
Fraser Syndrome
High palate, Dental malocclusion, Cleft upper lip, Bifid tongue, Abnormal hair pattern, Anophthal... ORPHA:2052
Bloom Syndrome
Hypertrichosis, Malar flattening, Decreased fertility in females, Agenesis of maxillary lateral i... OMIM:210900
Holoprosencephaly 7
Hypoplasia of the premaxilla, Panhypopituitarism, Bilateral cleft lip and palate, Median cleft li... OMIM:610828
Mantle Cell Lymphoma
Weight loss ORPHA:52416
Noonan Syndrome 1
High palate, Dental malocclusion, Woolly hair, High, narrow palate, Cleft palate, Micrognathia, M... OMIM:163950
Robin Sequence With Cleft Mandible And Limb Anomalies
High palate, Narrow mouth, Microretrognathia, Cleft palate, Micrognathia, Bifid uvula, Cleft mand... OMIM:268305
Holoprosencephaly-Postaxial Polydactyly Syndrome
Hypoplasia of the premaxilla, Narrow mouth, Cleft palate, Micrognathia, Oral cleft, Thyroid hypop... ORPHA:2166
Saethre-Chotzen Syndrome
Low anterior hairline, Narrow palate, Cleft palate, Malar flattening, Cleft of chin, Hypoplasia o... OMIM:101400
Metachromatic Leukodystrophy
Abnormal gallbladder morphology, Abnormality of visual evoked potentials, Tremor, Dystonia, Neopl... ORPHA:512
Cerebrotendinous Xanthomatosis
Cholelithiasis, Optic neuropathy, Abnormal retinal vascular morphology, Resting tremor, Hypermyel... ORPHA:909
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome
Sparse eyebrow, Cleft palate, Thin vermilion border, Optic nerve hypoplasia, Short philtrum, Subm... ORPHA:500150
Neurofaciodigitorenal Syndrome
Hypoplasia of the premaxilla, Abnormal oral mucosa morphology, Abnormality of the philtrum, Mandi... ORPHA:2673
Simpson-Golabi-Behmel Syndrome, Type 1
Dental malocclusion, Hypertrichosis, Wide mouth, Gingival overgrowth, Supernumerary nipple, Cleft... OMIM:312870
Aarskog Syndrome, Autosomal Dominant
Cleft upper lip, Cleft palate, Long philtrum, Curved linear dimple below the lower lip, Oral clef... OMIM:100050
Autosomal Recessive Malignant Osteopetrosis
Abnormality of hair texture, Abnormality of visual evoked potentials, Tremor, Optic nerve compres... ORPHA:667
Floating-Harbor Syndrome
Wide mouth, Persistence of primary teeth, Short philtrum, Oligodontia, Microdontia, Carious teeth... ORPHA:2044
Cutis Laxa, Autosomal Recessive, Type Ib
High palate, Micrognathia, Prominence of the premaxilla OMIM:614437
Williams-Beuren Syndrome
Dental malocclusion, Hypodontia, Malar flattening, Long philtrum, Microdontia, Hypothyroidism, Re... OMIM:194050
Primrose Syndrome
Sparse scalp hair, High palate, Narrow mouth, Malar flattening, Absent facial hair, Increased siz... OMIM:259050
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy
Abnormality of visual evoked potentials, Decreased body weight ORPHA:258
Aneurysm-Osteoarthritis Syndrome
High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Bifid uvula ORPHA:284984
Singleton-Merten Syndrome 1
Eruption failure, Hypoplasia of the tooth germ, Carious teeth, Hypoplasia of the maxilla, High an... OMIM:182250
Microphthalmia, Syndromic 1
High palate, Cleft upper lip, Tooth malposition, High, narrow palate, Anophthalmia, Optic disc co... OMIM:309800
Loeys-Dietz Syndrome 3
High palate, Dental malocclusion, Cleft palate, Malar flattening, Retrognathia, Bifid uvula OMIM:613795
Craniofacial Microsomia
Cleft upper lip, Wide mouth, Transverse facial cleft, Malar flattening, Cleft palate, Micrognathi... OMIM:164210
Von Hippel-Lindau Disease
Neoplasm of the pancreas, Pancreatic cysts, Hypertensive retinopathy, Papilledema, Macular edema,... 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, Pancreatic cysts, Pheochromocytoma 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.

This service may be affected by the Covid-19 pandemic. See how

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

The IMPC Newsletter

Get highlights of the most important data releases, news and events, delivered straight to your email inbox

Subscribe to newsletter