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Gene: Nf2 MGI:97307

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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:
neurofibromin 2
Synonyms:
schwannomin,  moesin-ezrin-radixin-like protein,  merlin

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 Nf2 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 predicted to be associated to Nf2 by phenotypic similarity.

Disease Similarity of
phenotypes		 Matching phenotypes Source
Reticulum Cell Sarcoma
Neoplasm, Sarcoma OMIM:267730
Myofibromatosis, Infantile, 1
Fibroma, Myofibromatosis OMIM:228550
Enchondromatosis, Multiple, Ollier Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:166000
Ewing Sarcoma
Ewing sarcoma OMIM:612219
Tumor Predisposition Syndrome 4
Glioma, Meningioma, Breast carcinoma, Sarcoma OMIM:609265
Chondrosarcoma
Chondrosarcoma OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid
Chondrosarcoma OMIM:612237
Tumor Predisposition Syndrome 1
Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci... OMIM:614327
Li-Fraumeni Syndrome
Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ... OMIM:151623
Lung Cancer
Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma OMIM:211980
Colorectal Cancer, Susceptibility To, 12
Carcinoma OMIM:615083
Multiple Fibroadenomas Of The Breast
Fibroadenoma of the breast OMIM:615554
Multiple Enchondromatosis, Maffucci Type
Chondrosarcoma, Hemangioma, Multiple enchondromatosis OMIM:614569
Sarcoma, Synovial
Synovial sarcoma OMIM:300813
Alveolar Soft Part Sarcoma
Alveolar soft part sarcoma OMIM:606243
Melanoma-Pancreatic Cancer Syndrome
Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano... OMIM:606719
Small Cell Cancer Of The Lung
Neoplasm of the lung OMIM:182280
Oslam Syndrome
Neoplasm, Osteosarcoma OMIM:165660
Osteogenic Sarcoma
Retinoblastoma, Osteosarcoma OMIM:259500
Li-Fraumeni Syndrome
Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer... ORPHA:524
Premature Aging Syndrome, Okamoto Type
Abnormal hair morphology, Neoplasm, Osteoporosis, Osteosarcoma OMIM:601811
Paget Disease Of Bone 3
Osteolysis, Patchy osteosclerosis, Osteosarcoma OMIM:167250
Undifferentiated Pleomorphic Sarcoma
Soft tissue sarcoma ORPHA:2023
Oslam Syndrome
Carious teeth, Osteosarcoma ORPHA:2760
Papilloma Of Choroid Plexus
Choroid plexus papilloma, Osteosarcoma OMIM:260500
Nut Midline Carcinoma
Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc... ORPHA:443167
Desmoid Disease, Hereditary
Desmoid tumors, Breast carcinoma OMIM:135290
Dermatofibrosarcoma Protuberans
Fibrosarcoma, Neoplasm of the skin ORPHA:31112
Paraneoplastic Pemphigus
B-cell lymphoma, Thymoma, Sarcoma ORPHA:63455
Exostoses, Multiple, Type Ii
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133701
Exostoses, Multiple, Type I
Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses OMIM:133700
Gingival Fibromatosis-Progressive Deafness Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Gingival overgrowth ORPHA:2027
Acquired Ichthyosis
Neoplasm, Lymphoma, Multiple myeloma, Sarcoma ORPHA:454
Maffucci Syndrome
Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par... ORPHA:163634
Oncogenic Osteomalacia
Hyperphosphaturia, Neoplasm of the skeletal system, Neoplasm of head and neck, Fibrous dysplasia ... ORPHA:352540
Epidermodysplasia Verruciformis, Susceptibility To, 3
Basal cell carcinoma, Verrucae, Squamous cell carcinoma OMIM:618267
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma
Osteopenia, Patchy osteosclerosis, Diaphyseal cortical sclerosis, Histiocytoma, Premature graying... OMIM:112250
Squamous Cell Carcinoma, Head And Neck
Squamous cell carcinoma OMIM:275355
Progressive Osseous Heteroplasia
Abnormality of the parathyroid gland, Ectopic ossification in muscle tissue, Sarcoma ORPHA:2762
Gingival Fibromatosis-Hypertrichosis Syndrome
Delayed eruption of teeth, Abnormality of the dentition, Synophrys, Hirsutism, Gingival fibromato... ORPHA:2026
Ollier Disease
Chondrosarcoma, Visceral angiomatosis, Osteolysis, Multiple enchondromatosis, Neoplasm, Hemangiom... ORPHA:296
Disseminated Superficial Actinic Porokeratosis
Squamous cell carcinoma ORPHA:79152
Fanconi Renotubular Syndrome 5
Proteinuria, Stage 5 chronic kidney disease, Aminoaciduria, Pulmonary fibrosis, Glycosuria, Hypop... OMIM:618913
Bazex Syndrome
Yellow nails, Lip hyperpigmentation, Neoplasm, Nail dystrophy, Lung adenocarcinoma, Liposarcoma ORPHA:166113
Retinoblastoma
Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma OMIM:180200
Neurofibromatosis, Type I
Astrocytoma, Rhabdomyosarcoma, Neurofibroma, Optic nerve glioma, Pheochromocytoma, Meningioma, Pl... OMIM:162200
Chromosome 17Q11.2 Deletion Syndrome, 1.4-Mb
Neurofibroma, Bone cyst, Plexiform neurofibroma, Lisch nodules, Neurofibrosarcoma, Subcutaneous n... OMIM:613675
Liposarcoma
Sarcoma ORPHA:69078
Gingival Fibromatosis-Facial Dysmorphism Syndrome
Delayed eruption of teeth, Exaggerated cupid's bow, Abnormal dental morphology, Synophrys, Gingiv... ORPHA:2025
Mast Cell Sarcoma
Sarcoma ORPHA:66661
Infantile Myofibromatosis
Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Abnormal hair morphology... ORPHA:2591
Benign Schwannoma
Schwannoma, Peripheral schwannoma, Scleral schwannoma, Vestibular schwannoma, Abnormal parotid gl... ORPHA:252164
Glioma susceptibility 9
Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia OMIM:616568
Cheilitis Glandularis
Neoplasm, Squamous cell carcinoma ORPHA:1221
Fibrous Dysplasia Of Bone
Thyroid carcinoma, Neoplasm of the breast, Patchy reduction of bone mineral density, Cortical irr... ORPHA:249
Large Congenital Melanocytic Nevus
Rhabdomyosarcoma, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma ORPHA:626
Rothmund-Thomson Syndrome, Type 2
Mandibular prognathia, Micrognathia, Squamous cell carcinoma, Premature graying of hair, High pal... OMIM:268400
Werner Syndrome
Osteoporosis, Reduced bone mineral density, Alopecia of scalp, Meningioma, Osteosarcoma OMIM:277700
Dentin Dysplasia
Increased bone mineral density, Abnormal dental morphology, Abnormal dental enamel morphology, Ex... ORPHA:1653
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion
Sinusitis, Micrognathia, Schwannoma, Bone cyst, Ossifying fibroma, Abnormality of the sphenoid si... ORPHA:363700
Rothmund-Thomson Syndrome Type 1
Delayed eruption of teeth, Osteopenia, Abnormal trabecular bone morphology, Alopecia totalis, Mye... ORPHA:221008
Regional Odontodysplasia
Dental enamel pits, Abnormality of dental color, Gingivitis, Eruption failure, Abnormal dental pu... ORPHA:83450
Rothmund-Thomson Syndrome Type 2
Osteopenia, Squamous cell carcinoma, High palate, Sparse hair, Microdontia, Abnormal dental ename... ORPHA:221016
17Q11 Microdeletion Syndrome
Osteopenia, Multiple mucosal neuromas, Brain neoplasm, Abnormal lung morphology, Pheochromocytoma... ORPHA:97685
Retinoblastoma
Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Leiomyosarcoma, Cleft palate, Melanoma, Retino... ORPHA:790
Steatocystoma Multiplex With Natal Teeth
Steatocystoma multiplex, Natal tooth OMIM:184510
Ramon Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Gingival fibromatosis, Narrow palat... ORPHA:3019
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease
Squamous cell carcinoma OMIM:613736
Asbestos Intoxication
Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ... ORPHA:2302
Baller-Gerold Syndrome
Micrognathia, Lymphoma, Abnormality of the ureter, Cleft palate, High palate, Narrow mouth, Vesic... ORPHA:1225
Yellow Nail Syndrome
Renal neoplasm, Recurrent respiratory infections, Sinusitis, Yellow nails, Bronchiectasis, Neopla... ORPHA:662
Diamond-Blackfan Anemia 21
Micrognathia, Synophrys, Widow's peak, Coarse hair, Horizontal eyebrow, Narrow mouth, Osteosarcoma OMIM:620072
Hyperkeratosis Lenticularis Perstans
Basal cell carcinoma, Squamous cell carcinoma ORPHA:409
Desmoplastic Small Round Cell Tumor
Neoplasm of the pancreas, Testicular neoplasm, Ovarian neoplasm, Neoplasm of the central nervous ... ORPHA:83469
Familial Adenomatous Polyposis 1
Astrocytoma, Carious teeth, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma... OMIM:175100
Joint Contractures, Osteochondromas, And B-Cell Lymphoma
Osteochondroma, Reduced bone mineral density, B-cell lymphoma, Burkitt lymphoma OMIM:620232
Florid Cemento-Osseous Dysplasia
Abnormal trabecular bone morphology, Jaw swelling, Multiple bony cystic lesions, Mandibular osteo... ORPHA:83451
Apc-Related Attenuated Familial Adenomatous Polyposis
Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ... ORPHA:247806
Pleuropulmonary Blastoma
Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma OMIM:601200
Noonan Syndrome 1
Juvenile myelomonocytic leukemia, Hypospadias, Micrognathia, Cryptorchidism, High, narrow palate,... OMIM:163950
Rhabdoid Tumor
Neoplasm of the central nervous system, Renal neoplasm, Hematuria, Sarcoma ORPHA:69077
Gardner Syndrome
Brain neoplasm, Astrocytoma, Papillary thyroid carcinoma, Prostate cancer, Hepatoblastoma, Fibros... ORPHA:79665
Multiple Endocrine Neoplasia, Type Iv
Pancreatic endocrine tumor, Pituitary adenoma, Carcinoma, Parathyroid adenoma, Renal angiomyolipo... OMIM:610755
Terminal Osseous Dysplasia
Accessory oral frenulum, Abnormal hand bone ossification, Cleft palate, Thick vermilion border, A... OMIM:300244
Desmoid Tumor
Osteolysis, Desmoid tumors, Neoplasm of the skin, Fibroma, Hydronephrosis ORPHA:873
Basal Cell Nevus Syndrome 2
Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma OMIM:620343
Epidermodysplasia Verruciformis, Susceptibility To, 2
Verruca plana, Squamous cell carcinoma of the skin OMIM:618231
Amelogenesis Imperfecta
Abnormality of dental color, Hypomature dental enamel, Enamel hypomineralization, Hypoplasia of t... ORPHA:88661
Werner Syndrome
Abnormal hair whorl, Squamous cell carcinoma, Premature graying of hair, Neoplasm, Thyroid carcin... ORPHA:902
Adrenocortical Carcinoma
Increased urinary cortisol level, Adrenocortical carcinoma, Adrenocorticotropic hormone deficienc... ORPHA:1501
Gigantiform Cementoma, Familial
Cementoma, Tooth malposition, Multiple impacted teeth OMIM:137575
Otodental Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Agenesis of premolar, Carious teeth... ORPHA:2791
Atypical Werner Syndrome
Sclerosis of hand bone, Micrognathia, Abnormal hair whorl, Reduced bone mineral density, Prematur... ORPHA:79474
Schöpf-Schulz-Passarge Syndrome
Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma ORPHA:50944
Acromesomelic Dysplasia, Grebe Type
Sarcoma ORPHA:2098
Tumor Predisposition Syndrome 2
Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D... OMIM:619975
Amelogenesis Imperfecta, Type Ig
Renal insufficiency, Polyuria, Impaired renal concentrating ability, Dagger-shaped pulp calcifica... OMIM:204690
Legius Syndrome
Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Nephrolithiasis, Desmoid t... ORPHA:137605
Cutaneous Neuroendocrine Carcinoma
Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell... ORPHA:79140
Congenital Macroglossia
Macroglossia, Neurofibroma ORPHA:2430
Tuberous Sclerosis 1
Chordoma, Dental enamel pits, Astrocytoma, Ependymoma, Gingival fibromatosis, Cardiac rhabdomyoma... OMIM:191100
Pyle Disease
Mandibular prognathia, Delayed eruption of teeth, Persistence of primary teeth, Carious teeth, Hy... OMIM:265900
Ovarian Fibrothecoma
Fibrosarcoma, Diffuse leiomyomatosis, Ovarian fibroma, Pleural effusion ORPHA:314478
Palmoplantar Carcinoma, Multiple Self-Healing
Carcinoma, Squamous cell carcinoma OMIM:615225
Diamond-Blackfan Anemia
Acute myeloid leukemia, Hypospadias, Cleft soft palate, Myelodysplasia, Micrognathia, Cleft lip, ... ORPHA:124
Opsoclonus-Myoclonus Syndrome
Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne... ORPHA:1183
Xeroderma Pigmentosum Variant
Melanoma, Basal cell carcinoma, Squamous cell carcinoma ORPHA:90342
Glioma Susceptibility 3
Acute myeloid leukemia, Glioblastoma multiforme, Astrocytoma, B Acute Lymphoblastic Leukemia, Med... OMIM:613029
Junctional Epidermolysis Bullosa Inversa
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrop... ORPHA:79405
Nthl1-Related Attenuated Familial Adenomatous Polyposis
Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou... ORPHA:454840
Oligodontia
Orofacial cleft, Oligodontia, Agenesis of mandibular premolar, Widely spaced teeth, Microdontia, ... ORPHA:99798
Subependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251639
Ependymoma
Ependymoma, Spinal cord tumor, Ovarian neoplasm, Neoplasm of the lung, Supratentorial neoplasm, N... ORPHA:251636
Cowden Syndrome 7
Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci... OMIM:616858
Diamond-Blackfan Anemia 1
Myelodysplasia, Micrognathia, Cleft upper lip, Renal hypoplasia, Cleft palate, Basal cell carcino... OMIM:105650
Polycystic Kidney Disease, Infantile Severe, With Tuberous Sclerosis
Renal angiomyolipoma, Cortical tubers, Polycystic kidney dysplasia OMIM:600273
Rhabdomyosarcoma, Embryonal, 1
Embryonal rhabdomyosarcoma OMIM:268210
Familial Adenomatous Polyposis
Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Eruption failure, Papillary thy... ORPHA:733
Rhabdomyosarcoma 2
Alveolar rhabdomyosarcoma OMIM:268220
Tuberous Sclerosis 2
Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Absence of renal corticomedullary differ... OMIM:613254
Late-Onset Junctional Epidermolysis Bullosa
Oral mucosal blisters, Carious teeth, Squamous cell carcinoma, Basal cell carcinoma, Nail dystrop... ORPHA:79406
Otodental Dysplasia
Delayed eruption of teeth, Agenesis of premolar, Tooth ankylosis, Pulp calcification, Taurodontia... OMIM:166750
Cutaneous Telangiectasia And Cancer Syndrome, Familial
Oropharyngeal squamous cell carcinoma, Alopecia, Yellow nails, Carious teeth, Breast carcinoma, C... OMIM:614564
Aredyld Syndrome
Mandibular prognathia, Smooth philtrum, Craniofacial hyperostosis, Abnormal dental enamel morphol... ORPHA:1133
Hypertrichosis Lanuginosa Congenita
Delayed eruption of teeth, Abnormality of the dentition, Gingival overgrowth, Generalized hirsuti... ORPHA:2222
Trichodermodysplasia-Dental Alterations Syndrome
Delayed eruption of teeth, Sparse scalp hair, Brittle hair, Abnormal dental morphology, Supernume... ORPHA:3353
Mismatch Repair Cancer Syndrome 1
Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ... OMIM:276300
Attenuated Familial Adenomatous Polyposis
Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma ORPHA:220460
Hypodontia-Dysplasia Of Nails Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Abnormality of the dentition, Conical toot... ORPHA:2228
Dentinogenesis Imperfecta
Generalized hypoplasia of dental enamel, Odontodysplasia, Selective tooth agenesis, Pulp oblitera... ORPHA:49042
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Alveolar process hypoplasia, Hypodontia, M... ORPHA:2972
Oral Submucous Fibrosis
Oropharyngeal squamous cell carcinoma ORPHA:357154
Monosomy 22
Aplasia of the thymus, Synophrys, Schwannoma, Micropenis, Gonadal neoplasm, Thin vermilion border... ORPHA:96123
Punctate Palmoplantar Keratoderma Type 1
Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ... ORPHA:79501
Hereditary Leiomyomatosis And Renal Cell Cancer
Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom... OMIM:150800
Milroy Disease
Angiosarcoma, Neoplasm of the skin ORPHA:79452
Rhabdomyosarcoma, Embryonal, 2
Ovarian thecoma, Nephroblastoma, Embryonal rhabdomyosarcoma, Pleuropulmonary blastoma OMIM:180295
Combined Immunodeficiency Due To Dock8 Deficiency
Recurrent respiratory infections, Pneumonia, Squamous cell carcinoma, Squamous cell carcinoma of ... ORPHA:217390
Rhabdoid Tumor Predisposition Syndrome 1
Medulloblastoma, Choroid plexus carcinoma OMIM:609322
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies
Mandibular prognathia, Deep philtrum, Recurrent pneumonia, High palate, Fibroma, Hypertrichosis OMIM:619750
Familial Multinodular Goiter
Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ... ORPHA:276399
48,Xxyy Syndrome
Delayed eruption of teeth, Broad jaw, Hypoplasia of penis, Recurrent respiratory infections, Abno... ORPHA:10
Gastrointestinal Stromal Tumor
Gastrointestinal stroma tumor, Esophageal neoplasm, Sarcoma ORPHA:44890
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia
Mandibular prognathia, Sparse scalp hair, Alopecia, Delayed eruption of teeth, Abnormal dental en... ORPHA:2325
Leukemia, Acute, X-Linked
Acute leukemia OMIM:308960
Dermatomyositis
Abnormal hair quantity, Recurrent respiratory infections, Gastrointestinal stroma tumor, Lymphoma... ORPHA:221
Neurofibroma
Neoplasm of the trachea, Symmetric spinal nerve root neurofibromas, Paraspinal neurofibroma, Neur... ORPHA:252183
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Brittle hair, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of ... ORPHA:50814
Rothmund-Thomson Syndrome
Osteopenia, Selective tooth agenesis, Squamous cell carcinoma, Reduced bone mineral density, Spar... ORPHA:2909
Schopf-Schulz-Passarge Syndrome
Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma OMIM:224750
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease
Acute myeloid leukemia, B-cell lymphoma, Myelodysplasia, Hematological neoplasm, T-cell lymphoma,... ORPHA:158057
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques
Alopecia, Abnormal oral mucosa morphology, Abnormality of the dentition, Carious teeth, Abnormali... ORPHA:659
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal
Laryngeal carcinoma, Carcinoma OMIM:610644
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome
Delayed eruption of teeth, Abnormal eyebrow morphology, Hypoplasia of penis, Hypospadias, Nephrol... ORPHA:1816
Epidermodysplasia Verruciformis
Verrucae, Squamous cell carcinoma ORPHA:302
Hemifacial Atrophy, Progressive
Delayed eruption of teeth, Tongue atrophy, Poliosis, Dental malocclusion, Patchy alopecia, Short ... OMIM:141300
Camptodactyly, Tall Stature, And Hearing Loss Syndrome
Osteochondroma, High palate OMIM:610474
Hyperparathyroidism-Jaw Tumor Syndrome
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:99880
Neuroblastoma, Susceptibility To, 2
Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma OMIM:613013
Cancer-Associated Retinopathy
Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,... ORPHA:71505
Cowden Syndrome 1
Fibroadenoma of the breast, Breast carcinoma, Carcinoma, Hamartomatous polyposis, Meningioma, Thy... OMIM:158350
Lambert-Eaton Myasthenic Syndrome
Small cell lung carcinoma ORPHA:43393
Short Stature-Wormian Bones-Dextrocardia Syndrome
Delayed eruption of teeth, Abnormality of the philtrum, Micrognathia, Cryptorchidism, Tooth agene... ORPHA:2863
Parathyroid Carcinoma
Pancreatic adenocarcinoma, Renal insufficiency, Renal hamartoma, Testicular neoplasm, Fibroma, Pr... ORPHA:143
Neurofibromatosis, Type Iii, Mixed Central And Peripheral
Bilateral vestibular schwannoma, Paraspinal neurofibroma, Palmar neurofibroma, Lisch nodules, Men... OMIM:162260
Amelo-Onycho-Hypohidrotic Syndrome
Delayed eruption of teeth, Abnormality of dental color, Abnormal dental morphology, Abnormal dent... ORPHA:1028
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome
Squamous cell carcinoma of the skin ORPHA:85112
Cleft Lip/Palate
Agenesis of lateral incisor, Bilateral cleft palate, Hypoplasia of the maxilla, Velopharyngeal in... ORPHA:199306
Polymerase Proofreading-Related Adenomatous Polyposis
Endometrial carcinoma, Brain neoplasm, Breast carcinoma, Adenocarcinoma of the colon ORPHA:447877
Mutyh-Related Attenuated Familial Adenomatous Polyposis
Desmoid tumors, Adenocarcinoma of the colon ORPHA:247798
Lowry-Maclean Syndrome
Delayed eruption of teeth, Craniosynostosis, Cleft palate OMIM:600252
Neurofibromatosis, Familial Spinal
Symmetric spinal nerve root neurofibromas, Neurofibroma, Plexiform neurofibroma, Lisch nodules, S... OMIM:162210
Cowden Syndrome
Hamartomatous polyposis, Neoplasm of the central nervous system, Neoplasm, High palate, Papilloma... ORPHA:201
Congenital Central Hypoventilation Syndrome
Neoplasm of the central nervous system, Neuroblastoma, Ganglioneuroma, Ganglioneuroblastoma ORPHA:661
Platelet Disorder, Undefined
Neuroblastoma, Hematological neoplasm OMIM:173420
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature
Dental crowding, Highly arched eyebrow, Micrognathia, Persistence of primary teeth, Thick lower l... OMIM:618342
Self-Improving Dystrophic Epidermolysis Bullosa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79411
Familial Multiple Lipomatosis
Premature eruption of permanent teeth, Odontogenic keratocysts of the jaw, Medulloblastoma ORPHA:199276
Catifa Syndrome
Delayed eruption of teeth, Cleft lip, Cleft palate, Increased overbite, Long philtrum, Tooth malp... OMIM:618761
Pachyonychia Congenita 2
Sparse scalp hair, Dry hair, Natal tooth, Angular cheilitis, Steatocystoma multiplex, Sparse eyeb... OMIM:167210
Medulloblastoma
Medulloblastoma OMIM:155255
Lymphedema-Distichiasis Syndrome
Proteinuria, Cleft upper lip, Cleft palate, Tubulointerstitial nephritis, Abnormality of the pulm... ORPHA:33001
Necrobiosis Lipoidica
Squamous cell carcinoma ORPHA:542592
Autosomal Dominant Hyper-Ige Syndrome
Delayed eruption of teeth, Recurrent respiratory infections, Osteopenia, Craniosynostosis, Abnorm... ORPHA:2314
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome
Delayed eruption of teeth, Short philtrum, Dentinogenesis imperfecta, Osteoporosis ORPHA:71267
Monosomy 9Q22.3
Delayed eruption of teeth, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyosarcoma,... ORPHA:77301
Xeroderma Pigmentosum, Complementation Group F
Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of... OMIM:278760
Ichthyosis, Hystrix-Like, With Deafness
Squamous cell carcinoma OMIM:602540
Pachyonychia Congenita
Natal tooth, Alopecia, Angular cheilitis, Steatocystoma multiplex, Nail dystrophy, Advanced erupt... ORPHA:2309
Short Stature, Dauber-Argente Type
Delayed eruption of teeth, Osteopenia, Reduced bone mineral density OMIM:619489
Osteogenesis Imperfecta, Type Xii
Delayed eruption of teeth, Micrognathia, Osteoporosis, High palate, Narrow mouth, Malar flattenin... OMIM:613849
Tolchin-Le Caignec Syndrome
Osteochondroma, Micrognathia, Submucous cleft hard palate, Hirsutism, Cardiac rhabdomyoma, High p... OMIM:618971
X-Linked Hypohidrotic Ectodermal Dysplasia
Delayed eruption of teeth, Everted upper lip vermilion, Everted lower lip vermilion, Sparse hair,... ORPHA:181
Temple-Baraitser Syndrome
Delayed eruption of teeth, Everted upper lip vermilion, Tented upper lip vermilion, Delayed phala... ORPHA:420561
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies
Delayed eruption of teeth, Cryptorchidism, Thick lower lip vermilion, Frontal upsweep of hair, Wi... OMIM:619797
Recurrent Respiratory Papillomatosis
Atelectasis, Abnormal lung morphology, Recurrent upper respiratory tract infections, Recurrent pn... ORPHA:60032
Teebi Hypertelorism Syndrome 2
Delayed eruption of teeth, Thin upper lip vermilion, Hypospadias, Cleft palate, High palate, Ever... OMIM:619736
Xeroderma Pigmentosum, Variant Type
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma OMIM:278750
Coffin-Siris Syndrome 2
Delayed eruption of teeth, Sparse scalp hair, Cryptorchidism, Thick lower lip vermilion, Low ante... OMIM:614607
Craniolenticulosutural Dysplasia
Delayed eruption of teeth, Thin upper lip vermilion, Osteopenia, Brittle hair, Carious teeth, Cry... OMIM:607812
X-Linked Alport Syndrome-Diffuse Leiomyomatosis
Recurrent respiratory infections, Diffuse leiomyomatosis, Vulvar neoplasm, Tracheobronchial leiom... ORPHA:1018
Trichothiodystrophy 3, Photosensitive
Natal tooth, Brittle hair, Bilateral cryptorchidism, Carious teeth, Neoplasm of the skin, Eclabio... OMIM:616395
Meige Disease
Angiosarcoma, Pleural effusion ORPHA:90186
Czech Dysplasia
Osteochondroma OMIM:609162
Carney Complex
Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast, Leydig cell neoplasia, Ov... ORPHA:1359
Neurofibromatosis Type 1
Abnormal hair quantity, Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipom... ORPHA:636
Trichorhinophalangeal Syndrome, Type I
Delayed eruption of teeth, Thin upper lip vermilion, Recurrent respiratory infections, Osteopenia... OMIM:190350
Frank-Ter Haar Syndrome
Mandibular prognathia, Delayed eruption of teeth, Gingival overgrowth, Osteolysis, Wide mouth, Sh... ORPHA:137834
Multiple Endocrine Neoplasia Type 4
Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel... ORPHA:276152
Ellis Van Creveld Syndrome
Abnormal hair quantity, Delayed eruption of teeth, Hydroureter, Hypospadias, Abnormal oral mucosa... ORPHA:289
Platelet Disorder, Familial, With Associated Myeloid Malignancy
Acute myeloid leukemia, Acute monocytic leukemia, Myelodysplasia, Lymphoma, Neuroblastoma OMIM:601399
Spinocerebellar Ataxia, Autosomal Recessive 20
Delayed eruption of teeth, Dental crowding, Oligosacchariduria, Macroglossia, High palate, Thick ... OMIM:616354
Pseudopseudohypoparathyroidism
Delayed eruption of teeth, Enamel hypoplasia, Osteoporosis, Pseudohypoparathyroidism OMIM:612463
Cerebrooculofacioskeletal Syndrome 1
Delayed eruption of teeth, Micrognathia, Carious teeth, Cryptorchidism, Recurrent pneumonia, Oste... OMIM:214150
Gapo Syndrome
Mandibular prognathia, Delayed eruption of teeth, Alopecia, Sparse eyelashes, Micrognathia, Spars... ORPHA:2067
Camptodactyly Syndrome, Guadalajara Type 1
Mandibular prognathia, Highly arched eyebrow, Open bite, Synophrys, Abnormality of dental eruptio... ORPHA:1327
Fanconi Anemia, Complementation Group N
Nephroblastoma, Medulloblastoma, Neuroblastoma OMIM:610832
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections
Osteopenia, Recurrent sinopulmonary infections, Craniosynostosis, Persistence of primary teeth, R... OMIM:147060
Mandibulofacial Dysostosis With Alopecia
Alopecia, Hydroureter, Sparse eyelashes, Dental crowding, Delayed eruption of primary teeth, Micr... OMIM:616367
Odontochondrodysplasia 1
Delayed eruption of teeth, Recurrent respiratory infections, Osteoporosis, Delayed ossification o... OMIM:184260
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies
Wide mouth, Thick vermilion border, Delayed eruption of permanent teeth, Exaggerated cupid's bow OMIM:618506
Angel-Shaped Phalango-Epiphyseal Dysplasia
Delayed eruption of teeth, Hypodontia ORPHA:63442
Sulfite Oxidase Deficiency, Isolated
Delayed eruption of teeth, Sulfocysteinuria, Increased urinary sulfite level, Fine hair, Decrease... OMIM:272300
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type
Sparse scalp hair, Natal tooth, Sparse eyelashes, Sparse eyebrow, Cranial hyperostosis, Hypoplast... OMIM:601345
Coffin-Siris Syndrome 3
Sparse scalp hair, Hirsutism, Cleft palate, Wide mouth, Macroglossia, Delayed eruption of permane... OMIM:614608
Spermatogenic Failure 81
Multiple non-erupting secondary teeth OMIM:620277
Acrofacial Dysostosis, Weyers Type
Abnormality of the dentition, Conical tooth, Abnormal oral frenulum morphology, Solitary median m... ORPHA:952
Turcot Syndrome With Polyposis
Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma... ORPHA:99818
Tuberous Sclerosis Complex
Angiofibromas, Pancreatic endocrine tumor, Subependymal giant-cell astrocytoma, Renal cyst, Pheoc... ORPHA:805
Cleidocranial Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Recurrent respiratory infections, Sinusitis, Ab... ORPHA:1452
Failure Of Tooth Eruption, Primary
Failure of eruption of permanent teeth, Hypodontia, Persistence of primary teeth OMIM:125350
Pheochromocytoma/Paraganglioma Syndrome 4
Paraganglioma of head and neck, Extraadrenal pheochromocytoma, Elevated urinary catecholamine lev... OMIM:115310
Odontotrichoungual-Digital-Palmar Syndrome
Mandibular prognathia, Natal tooth, Abnormality of hair texture, Dental malocclusion, Thick vermi... OMIM:601957
Tetrasomy 12P
Delayed eruption of teeth, Thin upper lip vermilion, Sparse eyebrow, Abnormal soft palate morphol... ORPHA:884
Contractures, Congenital, Torticollis, And Malignant Hyperthermia
Natal tooth, Abnormal mandible morphology, Cleft palate OMIM:217150
Perlman Syndrome
Everted upper lip vermilion, Tented upper lip vermilion, Renal hamartoma, Micrognathia, Cryptorch... OMIM:267000
Immunodeficiency 33
Delayed eruption of teeth, Hypodontia, Conical tooth OMIM:300636
Fused Mandibular Incisors
Advanced eruption of teeth, Abnormality of the dentition ORPHA:2287
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections
Recurrent sinopulmonary infections, Recurrent pneumonia, Bronchiectasis, Squamous cell carcinoma,... OMIM:243700
Multiple Osteochondromas
Osteochondroma, Chondrosarcoma, Pneumothorax, Rib exostoses, Urinary retention, Scapular exostose... ORPHA:321
Trichorhinophalangeal Syndrome, Type Ii
Mandibular prognathia, Osteopenia, Micrognathia, Bilateral cryptorchidism, Deep philtrum, Rib exo... OMIM:150230
Aarskog-Scott Syndrome
Delayed eruption of teeth, Cleft upper lip, Hypoplasia of the maxilla, Cryptorchidism, Abnormalit... ORPHA:915
Complex Regional Pain Syndrome
Dysesthesia, Somatic sensory dysfunction, Trophic changes related to pain, Allodynia ORPHA:83452
Laron Syndrome
Delayed eruption of teeth, Hypoplasia of penis, Micrognathia, Tooth agenesis, Microdontia ORPHA:633
Pycnodysostosis
Increased bone mineral density, Delayed eruption of primary teeth, Persistence of primary teeth, ... OMIM:265800
Dubowitz Syndrome
Delayed eruption of teeth, Sparse scalp hair, Hypospadias, Micrognathia, Carious teeth, Cryptorch... OMIM:223370
Pycnodysostosis
Obtuse angle of mandible, Increased bone mineral density, Decreased response to growth hormone st... ORPHA:763
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly
Delayed eruption of teeth, Dental crowding, Highly arched eyebrow, Wide mouth, High palate, Long ... OMIM:618825
Zimmermann-Laband Syndrome 1
Mandibular prognathia, Delayed eruption of teeth, Thick eyebrow, Thick hair, Highly arched eyebro... OMIM:135500
Kleefstra Syndrome
Mandibular prognathia, Hypoplasia of penis, Tented upper lip vermilion, Synophrys, Renal cyst, Do... ORPHA:261494
Osteopetrosis, Autosomal Recessive 2
Mandibular prognathia, Persistence of primary teeth, Carious teeth, Mandibular osteomyelitis, Cra... OMIM:259710
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3
Delayed eruption of teeth, Osteopenia, Dental malocclusion, High palate, Hypodontia, Bifid uvula OMIM:612350
Recessive Dystrophic Epidermolysis Bullosa Inversa
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79409
Sotos Syndrome
Ureteral duplication, Astrocytoma, No permanent dentition, Neoplasm, Vesicoureteral reflux, Hypos... ORPHA:821
Char Syndrome
Supernumerary nipple, Persistence of primary teeth, No permanent dentition, Thick vermilion borde... ORPHA:46627
Cushing Syndrome Due To Ectopic Acth Secretion
Increased urinary cortisol level, Sparse scalp hair, Pancreatic adenocarcinoma, Adrenal hyperplas... ORPHA:99889
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma
Squamous cell carcinoma OMIM:618373
Hallermann-Streiff Syndrome
Natal tooth, Alopecia, Sparse eyelashes, Abnormality of hair texture, Sparse eyebrow, Cryptorchid... ORPHA:2108
Lowry-Maclean Syndrome
Osteopenia, Hypospadias, Delayed eruption of primary teeth, Micrognathia, Bilateral cryptorchidis... ORPHA:2409
Hennekam Syndrome
Benign neoplasm of the central nervous system, Delayed eruption of teeth, Recurrent respiratory i... ORPHA:2136
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly
Microretrognathia, Natal tooth, Hamartoma of tongue, Sparse eyebrow, Cryptorchidism, Cleft lip, H... OMIM:616300
Splenogonadal Fusion With Limb Defects And Micrognathia
Crowded maxillary incisors, Multiple unerupted teeth, Micrognathia OMIM:183300
Melnick-Needles Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Recurrent respiratory infections, Micrognat... ORPHA:2484
4H Leukodystrophy
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Hypodontia, Abn... ORPHA:289494
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta
Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta OMIM:615905
Oculodentodigital Dysplasia, Autosomal Recessive
Delayed eruption of teeth, Sparse eyelashes, Dental crowding, Micrognathia, Hypoplasia of the max... OMIM:257850
Brachydactyly, Type E2
Delayed eruption of teeth, Oligodontia OMIM:613382
Hypotrichosis-Intellectual Disability, Lopes Type
Sparse hair, Advanced eruption of teeth ORPHA:2266
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1
Sparse scalp hair, Natal tooth, Sparse eyelashes, Proteinuria, Sagittal craniosynostosis, Microgn... OMIM:616901
Osteoglosphonic Dysplasia
Craniosynostosis, Micrognathia, Cryptorchidism, Tooth agenesis, Multiple unerupted teeth, Abnorma... ORPHA:2645
Multiple Pterygium-Malignant Hyperthermia Syndrome
Exaggerated cupid's bow, Cryptorchidism, Narrow mouth, Abnormal mandible morphology, Cleft palate... ORPHA:2215
Aicardi Syndrome
Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang... OMIM:304050
Craniometadiaphyseal Dysplasia
Mandibular prognathia, Natal tooth, Osteopenia, Dental crowding, Carious teeth, Absent paranasal ... OMIM:269300
Vitamin D-Dependent Rickets, Type 2A
Delayed eruption of teeth, Thin bony cortex, Carious teeth, Delayed epiphyseal ossification, Rick... OMIM:277440
Kleefstra Syndrome 1
Mandibular prognathia, Natal tooth, Recurrent respiratory infections, Hypospadias, Persistence of... OMIM:610253
Oculofaciocardiodental Syndrome
Delayed eruption of teeth, Peripheral pulmonary artery stenosis, Highly arched eyebrow, Abnormali... ORPHA:2712
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome
Micrognathia, Crowded maxillary incisors, Cryptorchidism, Abnormal lung lobation, Narrow palate, ... ORPHA:2063
Coffin-Siris Syndrome
Delayed eruption of teeth, Sparse scalp hair, Thick eyebrow, Thin upper lip vermilion, Hypospadia... ORPHA:1465
Lymphangioleiomyomatosis
Renal neoplasm, Abnormal urinary color, Recurrent respiratory infections, Retinal hamartoma, Rena... ORPHA:538
Eiken Syndrome
Persistence of primary teeth, Delayed epiphyseal ossification, Thick lower lip vermilion, Eruptio... OMIM:600002
Ectodermal Dysplasia With Adrenal Cyst
Delayed eruption of teeth, Hypoplastic nipples, Breast hypoplasia OMIM:129550
Bent Bone Dysplasia Syndrome 1
Natal tooth, Micrognathia, Gingival overgrowth, Decreased calvarial ossification, Malar flattenin... OMIM:614592
Hall-Riggs Syndrome
Delayed eruption of teeth, Slow-growing hair, Abnormal dental enamel morphology, Thick hair, Down... ORPHA:2107
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome
Micrognathia, Delayed eruption of permanent teeth, Narrow mouth, Microdontia, Open mouth OMIM:619356
48,Xxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Recurrent respiratory infe... ORPHA:96263
Vitamin D Hydroxylation-Deficient Rickets, Type 1A
Delayed eruption of teeth, Delayed epiphyseal ossification, Rickets, Generalized aminoaciduria, S... OMIM:264700
Dubowitz Syndrome
Hypoparathyroidism, Sparse scalp hair, Delayed eruption of teeth, Hypospadias, Craniosynostosis, ... ORPHA:235
Odontomicronychial Dysplasia
Short nail, Premature loss of primary teeth, Abnormality of the dentition, Carious teeth, Prematu... ORPHA:1811
Hennekam Lymphangiectasia-Lymphedema Syndrome 1
Smooth philtrum, Delayed eruption of teeth, Pleural lymphangiectasia, Ectopic kidney, Cryptorchid... OMIM:235510
Orofaciodigital Syndrome Type 2
Natal tooth, Median cleft lip, Thick hair, Hamartoma of tongue, Micrognathia, Unilateral alveolar... ORPHA:2751
Dysosteosclerosis
Delayed eruption of teeth, Natal tooth, Osteopenia, Sclerosis of hand bone, Sclerotic scapulae, M... OMIM:224300
Emanuel Syndrome
Delayed eruption of teeth, Broad jaw, Recurrent respiratory infections, Dental crowding, Unilater... ORPHA:96170
Familial Isolated Hypoparathyroidism
Hypoparathyroidism, Nephropathy, Abnormal dental enamel morphology, Delayed eruption of teeth ORPHA:2238
Pseudohypoparathyroidism, Type Ia
Delayed eruption of teeth, Osteoporosis, Pseudohypoparathyroidism, Subcutaneous ossification, Low... OMIM:103580
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form
Basal cell carcinoma, Cutaneous melanoma, Squamous cell carcinoma ORPHA:79410
Osteopathia Striata-Cranial Sclerosis Syndrome
Delayed eruption of teeth, Increased bone mineral density, Micrognathia, High, narrow palate, Sub... ORPHA:2780
Oculocerebrorenal Syndrome Of Lowe
Mandibular prognathia, Hyperparathyroidism, Dental crowding, Micrognathia, Deep philtrum, Gingivi... ORPHA:534
Enamel-Renal Syndrome
Delayed eruption of teeth, Abnormality of dental color, Renal insufficiency, Abnormal dental enam... ORPHA:1031
Hypothyroidism, Congenital, Nongoitrous, 6
Delayed eruption of teeth, Macroglossia OMIM:614450
Congenital Nephrotic Syndrome, Finnish Type
Nephrotic syndrome, Delayed eruption of permanent teeth, Proteinuria ORPHA:839
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities
Mandibular prognathia, Long penis, High palate, Advanced eruption of teeth, Hypertrichosis OMIM:262190
Weismann-Netter Syndrome
Calvarial hyperostosis, Delayed eruption of permanent teeth OMIM:112350
49,Xxxxy Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of penis, Recurrent respiratory infe... ORPHA:96264
Ramon Syndrome
Delayed eruption of teeth, Gingival fibromatosis, Narrow palate, Hypertrichosis OMIM:266270
Schinzel-Giedion Syndrome
Micrognathia, Abnormality of the gingiva, Renal cyst, Short philtrum, High palate, Hepatoblastoma... ORPHA:798
Peripheral Primitive Neuroectodermal Tumor
Neoplasm of the pancreas, Brain neoplasm, Spinal cord tumor, Ovarian neoplasm, Peripheral primiti... ORPHA:370348
Multiple Endocrine Neoplasia Type 1
Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea... ORPHA:652
Anti-Glomerular Basement Membrane Disease
Hematuria, Renal insufficiency, Proteinuria, Persistence of primary teeth ORPHA:375
Raine Syndrome
Mandibular prognathia, Natal tooth, Increased bone mineral density, Hydroureter, Highly arched ey... OMIM:259775
Schwannomatosis, Vestibular
Astrocytoma, Bilateral vestibular schwannoma, Retinal hamartoma, Optic nerve sheath meningioma, E... OMIM:101000
Spondyloenchondrodysplasia
Enchondroma, Delayed eruption of teeth, Proteinuria, Decreased response to growth hormone stimula... ORPHA:1855
Teebi Hypertelorism Syndrome 1
Thin upper lip vermilion, Natal tooth, Dental crowding, Highly arched eyebrow, Micrognathia, Sagi... OMIM:145420
Malan Syndrome
Mandibular prognathia, Hyperplasia of the premaxilla, Gingival overgrowth, Everted lower lip verm... OMIM:614753
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Narrow palate, Ovari... ORPHA:87
Blue Rubber Bleb Nevus
Hemangioma, Cerebellar medulloblastoma OMIM:112200
Dysosteosclerosis
Delayed eruption of teeth, Craniofacial hyperostosis, Increased bone mineral density, Abnormal de... ORPHA:1782
Developmental And Epileptic Encephalopathy 41
Delayed eruption of teeth, Nephrocalcinosis OMIM:617105
Basal Cell Nevus Syndrome 1
Mandibular prognathia, Odontogenic keratocysts of the jaw, Ovarian fibroma, Rhabdomyoma, Cleft up... OMIM:109400
Vascular Malformation, Primary Intraosseous
Ectopic tooth eruption, Gingival bleeding OMIM:606893
Chromosome 13Q33-Q34 Deletion Syndrome
Delayed eruption of teeth, Irregular dentition, Tented upper lip vermilion, Hypospadias, Microgna... OMIM:619148
Meningioma, Familial, Susceptibility To
Meningioma OMIM:607174
Odontochondrodysplasia
Delayed eruption of teeth, Retrognathia, Dentinogenesis imperfecta ORPHA:166272
Hypocalcemic Vitamin D-Dependent Rickets
Delayed eruption of teeth, Osteomalacia, Delayed epiphyseal ossification, Rickets, Generalized am... ORPHA:289157
Codas Syndrome
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Abnormal dental enamel morpho... ORPHA:1458
Pseudohypoparathyroidism, Type Ic
Delayed eruption of teeth, Osteoporosis, Pseudohypoparathyroidism, Low urinary cyclic AMP respons... OMIM:612462
Acrootoocular Syndrome
Delayed eruption of teeth, Decreased response to growth hormone stimulation test, Micrognathia, G... ORPHA:2980
Ectodermal Dysplasia/Short Stature Syndrome
Delayed eruption of teeth, Enamel hypoplasia, Nail dystrophy, Hypodontia OMIM:616029
Dyskeratosis Congenita, X-Linked
Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Hodgkin lymphoma, ... OMIM:305000
Frontometaphyseal Dysplasia 1
Delayed eruption of teeth, Hydroureter, Selective tooth agenesis, Craniosynostosis, Persistence o... OMIM:305620
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome
Short philtrum, Widely spaced teeth, Sparse hair, Highly arched eyebrow, Cleft lip, Pulmonary art... OMIM:280000
Emanuel Syndrome
Broad jaw, Recurrent respiratory infections, Dental crowding, Delayed eruption of primary teeth, ... OMIM:609029
Rutherfurd Syndrome
Failure of eruption of permanent teeth, Delayed eruption of primary teeth OMIM:180900
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Abnormal bone ossifica... ORPHA:2563
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome
Delayed eruption of teeth, Sparse eyelashes, Abnormal dental enamel morphology, Supernumerary nip... ORPHA:1071
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Abnormal dental morphology, Abnormal dental enamel morpholog... ORPHA:464
Nijmegen Breakage Syndrome
Sinusitis, Glioma, Rhabdomyosarcoma, Micrognathia, Malar prominence, Cleft upper lip, Deep philtr... OMIM:251260
Coffin-Lowry Syndrome
Delayed eruption of teeth, Craniofacial hyperostosis, Abnormal dental morphology, Hypoplasia of t... ORPHA:192
Medulloblastoma
Medulloblastoma, Spinal cord tumor, Neoplasm of the lung, Neuroblastoma, Cerebellar medulloblastoma ORPHA:616
8P Inverted Duplication/Deletion Syndrome
Frontal balding, Micrognathia, Cryptorchidism, Synophrys, High, narrow palate, Abnormality of den... ORPHA:96092
Acrodysostosis
Mandibular prognathia, Delayed eruption of teeth, Hypoplasia of the maxilla, Cryptorchidism, Open... ORPHA:950
Craniometaphyseal Dysplasia, Autosomal Recessive
Mandibular prognathia, Delayed eruption of permanent teeth, Broad alveolar ridges, Patchy scleros... OMIM:218400
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections
Persistence of primary teeth, Supernumerary tooth, Recurrent upper respiratory tract infections, ... OMIM:619752
Marbach-Rustad Progeroid Syndrome
Delayed eruption of primary teeth, Micrognathia, Reduced bone mineral density, Eruption failure, ... OMIM:619322
Pallister-Hall Syndrome
Thyroid dysgenesis, Natal tooth, Hydroureter, Decreased response to growth hormone stimulation te... OMIM:146510
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency
Delayed eruption of teeth, Micrognathia, Low anterior hairline, Osteoporosis, Low posterior hairline ORPHA:73272
Smith-Magenis Syndrome
Mandibular prognathia, Tented upper lip vermilion, Delayed eruption of primary teeth, Micrognathi... ORPHA:819
Johanson-Blizzard Syndrome
Delayed eruption of teeth, Alopecia, Hypoplasia of penis, Hypospadias, Abnormal hair pattern, Abn... ORPHA:2315
Impacted Teeth, Multiple
Supernumerary tooth, Multiple impacted teeth OMIM:308280
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type
Natal tooth, Scarring alopecia of scalp, Hypoplastic sweat glands, Cleft palate, Short philtrum, ... OMIM:617337
Teeth Present At Birth
Natal tooth OMIM:187050
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth
Natal tooth OMIM:243185
Shwachman-Diamond Syndrome
Acute myeloid leukemia, Delayed eruption of teeth, Hypopituitarism, Sinusitis, Osteopenia, Decrea... ORPHA:811
Pallister-Hall Syndrome
Ectopic kidney, Gonadotropin deficiency, Abnormal lung lobation, Micropenis, Bifid uvula, Microre... ORPHA:672
Barber-Say Syndrome
Mandibular prognathia, Delayed eruption of teeth, Absent nipple, Sparse eyelashes, Micrognathia, ... OMIM:209885
Carpenter Syndrome 1
Hydroureter, Sagittal craniosynostosis, Persistence of primary teeth, Hypoplasia of the maxilla, ... OMIM:201000
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features
Highly arched eyebrow, Downturned corners of mouth, Widely spaced teeth, Everted lower lip vermil... OMIM:617865
Andersen Cardiodysrhythmic Periodic Paralysis
Thin upper lip vermilion, Dental crowding, Short mandibular rami, Micrognathia, Hypoplasia of the... OMIM:170390
Fanconi Anemia, Complementation Group P
Squamous cell carcinoma OMIM:613951
Momo Syndrome
Delayed eruption of teeth, Thick lower lip vermilion, Dental malocclusion, Taurodontia, High pala... OMIM:157980
Acrodysostosis 1 With Or Without Hormone Resistance
Mandibular prognathia, Delayed eruption of teeth, Unilateral renal agenesis, Hypoplasia of the ma... OMIM:101800
Acrocallosal Syndrome
Mandibular prognathia, Downturned corners of mouth, High palate, Short philtrum, Micropenis, Prom... OMIM:200990
Hallermann-Streiff Syndrome
Selective tooth agenesis, Micrognathia, High, narrow palate, High palate, Sparse hair, Sparse eye... OMIM:234100
Cornelia De Lange Syndrome 1
Micrognathia, Ectopic kidney, High, narrow palate, Synophrys, Renal cyst, Downturned corners of m... OMIM:122470
Papillon-Lefèvre Syndrome
Recurrent respiratory infections, Melanoma, Neoplasm of the skin, Squamous cell carcinoma ORPHA:678
Short-Rib Thoracic Dysplasia 20 With Polydactyly
Absent gallbladder, Natal tooth, Hamartoma of tongue, Micrognathia, Cleft lip, Cleft palate, Low ... OMIM:617925
Chromomycosis
Abnormal lung morphology, Multiple cutaneous malignancies, Squamous cell carcinoma ORPHA:182
Short-Rib Thoracic Dysplasia 12
Natal tooth, Median cleft lip, Hamartoma of tongue, Atelectasis, Renal hypoplasia, Lobulated tong... OMIM:269860
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Sparse scalp hair, Decreased response to growth hormone stimulation te... OMIM:615866
Multicentric Osteolysis, Nodulosis, And Arthropathy
Delayed eruption of teeth, Osteopenia, Thin bony cortex, Micrognathia, Hypoplasia of the maxilla,... OMIM:259600
Kabuki Syndrome 2
Natal tooth, Highly arched eyebrow, Micrognathia, Lower lip pit, Dental malocclusion, Cleft palat... OMIM:300867
Tremor-Ataxia-Central Hypomyelination Syndrome
Delayed eruption of teeth, Oligodontia, Hypodontia ORPHA:447896
Fgfr2-Related Bent Bone Dysplasia
Osteopenia, Natal tooth, Micrognathia, Incomplete ossification of pubis, Gingival overgrowth, Dec... ORPHA:313855
Pitt-Hopkins Syndrome
Supernumerary nipple, Cryptorchidism, Hodgkin lymphoma, Micropenis, Wide mouth, Thick vermilion b... ORPHA:2896
Three M Syndrome 2
Delayed eruption of teeth, Dental malocclusion, Thick vermilion border, High palate, Long philtru... OMIM:612921
Cockayne Syndrome Type 2
Mandibular prognathia, Delayed eruption of primary teeth, Cryptorchidism, Widely spaced primary t... ORPHA:90322
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Micrognathia, Cryptor... ORPHA:85201
Neuronal Intestinal Pseudoobstruction
Natal tooth ORPHA:99811
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism
Delayed eruption of teeth, Natal tooth, Oligodontia, Hypodontia OMIM:614381
Andersen-Tawil Syndrome
Thin upper lip vermilion, Abnormality of dental color, Dental crowding, Micrognathia, Hypoplasia ... ORPHA:37553
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies
Persistence of primary teeth, Conical tooth, Scarring alopecia of scalp, Dental malocclusion, Oli... OMIM:618727
Den Hoed-De Boer-Voisin Syndrome
Delayed eruption of teeth, Thick eyebrow, Carious teeth, Widow's peak, Widely spaced teeth, Yello... OMIM:619229
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion
Natal tooth, Recurrent respiratory infections, Dental crowding, Hypospadias, Pneumonia, Carious t... ORPHA:353281
Rabson-Mendenhall Syndrome
Mandibular prognathia, Enlarged ovaries, Dental crowding, Thick hair, Abnormality of the dentitio... ORPHA:769
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy
Natal tooth, Recurrent lower respiratory tract infections, Long eyelashes, Micrognathia OMIM:617802
Pseudohypoparathyroidism Type 1B
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... ORPHA:94089
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome
Delayed eruption of teeth, Myelodysplasia, Recurrent upper respiratory tract infections, Gingival... ORPHA:508542
Epidermolysis Bullosa Dystrophica, Autosomal Recessive
Squamous cell carcinoma OMIM:226600
Brachydactyly, Type B1
Micropenis, Delayed eruption of permanent teeth OMIM:113000
Progressive Non-Fluent Aphasia
Brain neoplasm ORPHA:100070
Incontinentia Pigmenti
Delayed eruption of teeth, Alopecia, Supernumerary nipple, Conical tooth, Fine hair, Coarse hair,... OMIM:308300
Elsahy-Waters Syndrome
Mandibular prognathia, Delayed eruption of teeth, Thin upper lip vermilion, Penoscrotal hypospadi... OMIM:211380
Cardiospondylocarpofacial Syndrome
High, narrow palate, Tooth malposition, Failure of eruption of permanent teeth ORPHA:3238
Mucopolysaccharidosis, Type Ii
Delayed eruption of teeth, Heparan sulfate excretion in urine, Thick lower lip vermilion, Recurre... OMIM:309900
Deaf Blind Hypopigmentation Syndrome, Yemenite Type
Delayed eruption of teeth, Hypopigmentation of hair, Macrodontia, High, narrow palate, Taurodonti... ORPHA:3214
Microphthalmia, Lenz Type
Delayed eruption of teeth, Hydroureter, Abnormal dental morphology, Hypospadias, Abnormality of t... ORPHA:568
3M Syndrome
Delayed eruption of teeth, Hypospadias, Abnormal dental enamel morphology, Everted lower lip verm... ORPHA:2616
Hyper-Igd Syndrome
Renal angiomyolipoma, Oral ulcer, Elevated urine mevalonic acid level OMIM:260920
Short Syndrome
Delayed eruption of teeth, Micrognathia, Dental malocclusion, Downturned corners of mouth, Ovaria... OMIM:269880
Odontochondrodysplasia 2 With Hearing Loss And Diabetes
Osteopenia, Moderate albuminuria, Hydronephrosis, Delayed eruption of permanent teeth, Periodonti... OMIM:619269
Apert Syndrome
Mandibular prognathia, Delayed eruption of teeth, Sagittal craniosynostosis, Craniosynostosis, Cr... OMIM:101200
Autosomal Recessive Hypophosphatemic Rickets
Delayed eruption of teeth, Abnormal trabecular bone morphology, Hyperphosphaturia, Abnormality of... ORPHA:289176
Gapo Syndrome
Alopecia, Sparse eyelashes, Micrognathia, Sparse eyebrow, High, narrow palate, Thick lower lip ve... OMIM:230740
Smith-Lemli-Opitz Syndrome
Hypoplasia of penis, Facial capillary hemangioma, Micrognathia, Abnormal lung lobation, Advanced ... ORPHA:818
Acrocraniofacial Dysostosis
Craniosynostosis, Micrognathia, Cleft palate, Short philtrum, Advanced eruption of teeth ORPHA:949
Cleft Palate, Deafness, And Oligodontia
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate OMIM:216300
Ellis-Van Creveld Syndrome
Delayed eruption of teeth, Natal tooth, Hypospadias, Abnormality of the alveolar ridges, Cleft up... OMIM:225500
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome
Dental crowding, Urinary incontinence, Micrognathia, Abnormality of the dentition, Synophrys, Eru... ORPHA:476126
Sotos Syndrome
Mandibular prognathia, Sparse eyebrow, Cryptorchidism, High, narrow palate, Narrow jaw, Narrow pa... OMIM:117550
Barber-Say Syndrome
Delayed eruption of teeth, Wide mouth, Sparse or absent eyelashes, Breast aplasia, Hypoplastic ni... ORPHA:1231
Ameloonychohypohidrotic Syndrome
Hypocalcification of dental enamel, Marked delay in eruption of permanent teeth, Yellow-brown dis... OMIM:104570
Immunodeficiency 49
Natal tooth, Micrognathia, Pulmonary artery stenosis, Short philtrum, Hirsutism OMIM:617237
Cleidocranial Dysplasia 2
Osteopenia, Delayed eruption of primary teeth, Hypoplasia of the maxilla, Supernumerary tooth, De... OMIM:620099
Robinow Syndrome
Multicystic kidney dysplasia, Dental crowding, Micrognathia, Persistence of primary teeth, Crypto... ORPHA:97360
Familial Osteodysplasia, Anderson Type
Mandibular prognathia, Failure of eruption of permanent teeth, Carious teeth, Abnormal zygomatic ... ORPHA:2769
Recon Progeroid Syndrome
Prominence of the premaxilla, Dental crowding, Hirsutism, Absent lower eyelashes, Thin vermilion ... OMIM:620370
Orofaciodigital Syndrome Xiv
Microretrognathia, Natal tooth, Hamartoma of tongue, Micrognathia, Cryptorchidism, Supernumerary ... OMIM:615948
Cleidocranial Dysplasia 1
Increased bone mineral density, Delayed eruption of primary teeth, Micrognathia, Absent frontal s... OMIM:119600
Trisomy 9P
Downturned corners of mouth, Non-midline cleft lip, Dental crowding, Impacted tooth ORPHA:236
Doors Syndrome
Adrenal hyperplasia, Short lingual frenulum, Low anterior hairline, Downturned corners of mouth, ... ORPHA:79500
Premature Aging Syndrome, Penttinen Type
Delayed eruption of teeth, Micrognathia, Hypoplasia of the maxilla, Narrow philtrum, Osteoporosis... OMIM:601812
Cockayne Syndrome Type 1
Mandibular prognathia, Renal insufficiency, Proteinuria, Delayed eruption of primary teeth, Abnor... ORPHA:90321
Familial Partial Lipodystrophy, Dunnigan Type
Advanced eruption of teeth, Generalized hirsutism, Polycystic ovaries ORPHA:2348
Osteoglophonic Dysplasia
Mandibular prognathia, Delayed eruption of teeth, Osteopenia, Hypospadias, Craniosynostosis, Hypo... OMIM:166250
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant
Squamous cell carcinoma OMIM:148210
Kleefstra Syndrome Due To A Point Mutation
Vesicoureteral reflux, Natal tooth, Thick lower lip vermilion, Abnormality of the dentition ORPHA:261652
Osteogenesis Imperfecta
Delayed eruption of teeth, Osteopenia, Abnormality of dental color, Abnormal dental enamel morpho... ORPHA:666
Lead Poisoning
Delayed eruption of teeth, Chronic kidney disease, Cranial hyperostosis, Renal tubular dysfunctio... ORPHA:330015
Osteopathia Striata With Cranial Sclerosis
Natal tooth, Multicystic kidney dysplasia, Paranasal sinus hypoplasia, Dental crowding, Micrognat... OMIM:300373
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin
Recurrent upper respiratory tract infections, Dental crowding, Recurrent pneumonia, Persistence o... OMIM:619769
De Barsy Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Cryptorchidism, Small,... ORPHA:2962
Robinow Syndrome, Autosomal Dominant 1
Short lingual frenulum, Dental crowding, Micrognathia, Orofacial cleft, Downturned corners of mou... OMIM:180700
Opitz Gbbb Syndrome
Natal tooth, Enlarged ovaries, Hypospadias, Craniosynostosis, Micrognathia, Cryptorchidism, Widow... ORPHA:2745
Robinow Syndrome, Autosomal Recessive 1
Thin upper lip vermilion, Tented upper lip vermilion, Dental crowding, Micrognathia, Cryptorchidi... OMIM:268310
Miller-Dieker Lissencephaly Syndrome
Delayed eruption of teeth, Thin upper lip vermilion, Micrognathia, Cryptorchidism, Cleft palate, ... OMIM:247200
Osteopetrosis With Renal Tubular Acidosis
Persistence of primary teeth, Micrognathia, Abnormality of the dentition, Thick lower lip vermili... ORPHA:2785
Otopalatodigital Syndrome, Type I
Selective tooth agenesis, Absent frontal sinuses, Cleft palate, Multiple impacted teeth, Nail dys... OMIM:311300
Beare-Stevenson Cutis Gyrata Syndrome
Natal tooth, Hypospadias, Craniosynostosis, Gingival overgrowth, Narrow palate, High palate, Narr... OMIM:123790
Coffin-Siris Syndrome 1
Dry hair, Conical tooth, Ectopic kidney, Short philtrum, High palate, Microdontia, Hypospadias, C... OMIM:135900
Melnick-Needles Syndrome
Delayed eruption of teeth, Obtuse angle of mandible, Recurrent respiratory infections, Ureteral s... OMIM:309350
Helsmoortel-Van Der Aa Syndrome
Decreased response to growth hormone stimulation test, High, narrow palate, Pineal cyst, Enuresis... OMIM:615873
Chst3-Related Skeletal Dysplasia
Sparse eyebrow, Long philtrum, Highly arched eyebrow, Delayed eruption of teeth ORPHA:263463
Odontomicronychial Dysplasia
Premature eruption of permanent teeth, Short nail OMIM:601319
Pseudohypoparathyroidism Type 1C
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... ORPHA:79444
Full Schwannomatosis
Neoplasm of the anterior pituitary, Bilateral vestibular schwannoma, Schwannoma, Peripheral schwa... ORPHA:93921
Focal Dermal Hypoplasia
Delayed eruption of teeth, Ureteral duplication, Brittle hair, Supernumerary nipple, Cleft upper ... OMIM:305600
Cherubism
Jaw swelling, Dental malocclusion, Alveolar ridge overgrowth, Narrow palate, Oligodontia, Multipl... OMIM:118400
Bloom Syndrome
Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous cell carcinoma, ... OMIM:210900
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome
Mandibular prognathia, Tented upper lip vermilion, Nephrolithiasis, Delayed eruption of permanent... ORPHA:521445
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis
Delayed eruption of teeth, Thin upper lip vermilion, Dental crowding, Micrognathia, Cleft hard pa... OMIM:300990
Endocrine-Cerebroosteodysplasia
Natal tooth, Median cleft lip, Hypospadias, Bilateral cleft lip, Micrognathia, Cryptorchidism, Mi... OMIM:612651
Pseudohypoparathyroidism Type 1A
Delayed eruption of teeth, Increased bone mineral density, Decreased response to growth hormone s... ORPHA:79443
Cole-Carpenter Syndrome
Delayed eruption of teeth, Abnormal dental enamel morphology, Micrognathia ORPHA:2050
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome
Delayed eruption of teeth, Abnormal dental morphology, Micrognathia, High, narrow palate, Thick l... ORPHA:369950
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Hypospadias, Highly arched eye... ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations
Dental crowding, Micrognathia, High palate, Vesicoureteral reflux, Hypospadias, Highly arched eye... ORPHA:353277
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy
Acroosteolysis of distal phalanges (feet), Micrognathia, Osteolytic defects of the phalanges of t... ORPHA:280365
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib
Osteopenia, Proteinuria, Carious teeth, Osteoporosis, Oral ulcer, Gingivitis, Polycystic ovaries,... ORPHA:79259
Scalp-Ear-Nipple Syndrome
Delayed eruption of teeth, Ureteral duplication, Abnormality of the dentition, Pyelonephritis, Du... ORPHA:2036
Brachydactyly, Type E1
Multiple impacted teeth OMIM:113300
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome
Branchial cyst, Thin upper lip vermilion, Natal tooth, Absent nipple, Aplasia of the thymus, Recu... OMIM:620186
Dihydropyrimidine Dehydrogenase Deficiency
Delayed eruption of teeth, Short nail, Deep philtrum, Uraciluria, High palate, Long eyelashes, Op... ORPHA:1675
Blomstrand Lethal Chondrodysplasia
Natal tooth, Increased bone mineral density, Protruding tongue, Micrognathia, Pulmonary hypoplasi... ORPHA:50945
Stickler Syndrome
Recurrent respiratory infections, Abnormal dental enamel morphology, Micrognathia, Hypoplasia of ... ORPHA:828
Cockayne Syndrome B
Mandibular prognathia, Dry hair, Renal insufficiency, Proteinuria, Delayed eruption of primary te... OMIM:133540
Epidermolysis Bullosa, Lethal Acantholytic
Natal tooth, Alopecia totalis, Alopecia universalis OMIM:609638
Lethal Acantholytic Erosive Disorder
Absent eyebrow, Natal tooth, Absent eyelashes, Cleft palate, Congenital alopecia totalis, Absent ... ORPHA:158687
Adnp Syndrome
Smooth philtrum, Sparse scalp hair, Thin upper lip vermilion, Urinary incontinence, Cryptorchidis... ORPHA:404448
Mucopolysaccharidosis, Type Vi
Delayed eruption of teeth, Pneumonia, Carious teeth, Recurrent upper respiratory tract infections... OMIM:253200
Cockayne Syndrome A
Mandibular prognathia, Dry hair, Renal insufficiency, Proteinuria, Delayed eruption of primary te... OMIM:216400
Hutchinson-Gilford Progeria Syndrome
Dental crowding, Short lingual frenulum, Micrognathia, Reduced bone mineral density, High palate,... ORPHA:740
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis
Delayed eruption of teeth, Alveolar ridge overgrowth, Gingival overgrowth, Widely spaced teeth, A... OMIM:301072
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome
Hypoplasia of penis, Cryptorchidism, Submucous cleft hard palate, Cleft palate, Failure of erupti... ORPHA:2250
Wiedemann-Rautenstrauch Syndrome
Micrognathia, Downturned corners of mouth, Hypoplasia of the thymus, Absent eyebrow, Alopecia, Hy... OMIM:264090
Autosomal Dominant Kenny-Caffey Syndrome
Persistence of primary teeth, Carious teeth, Decreased skull ossification, Cortical thickening of... ORPHA:93325
Restrictive Dermopathy
Osteopenia, Natal tooth, Ureteral duplication, Hypospadias, Short nail, Micrognathia, Sparse eyeb... ORPHA:1662
Autosomal Recessive Malignant Osteopetrosis
Delayed eruption of teeth, Recurrent respiratory infections, Premature loss of primary teeth, Abn... ORPHA:667
Restrictive Dermopathy 1
Natal tooth, Ureteral duplication, Sparse eyelashes, Short nail, Hypospadias, Micrognathia, Absen... OMIM:275210
Microphthalmia, Syndromic 2
Delayed eruption of teeth, Hypospadias, Persistence of primary teeth, Cryptorchidism, Supernumera... OMIM:300166
Cornelia De Lange Syndrome
Hypoplasia of penis, Micrognathia, Synophrys, Low anterior hairline, Downturned corners of mouth,... ORPHA:199
Codas Syndrome
Delayed eruption of teeth, Cryptorchidism, Enamel hypoplasia, Delayed ossification of carpal bones OMIM:600373
Meckel Syndrome, Type 1
Thin upper lip vermilion, Natal tooth, Cleft upper lip, Micrognathia, Cryptorchidism, Abnormality... OMIM:249000
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies
Mandibular prognathia, Dental crowding, Decreased response to growth hormone stimulation test, Mi... OMIM:619503
Specc1L-Related Hypertelorism Syndrome
Highly arched eyebrow, Ectopic kidney, Cryptorchidism, Widow's peak, Orofacial cleft, Thin vermil... ORPHA:1519
Charge Syndrome
Delayed eruption of teeth, Highly arched eyebrow, Cleft upper lip, Abnormal soft palate morpholog... ORPHA:138
Cockayne Syndrome
Dry hair, Neurogenic bladder, Abnormal dental morphology, Urinary incontinence, Delayed eruption ... ORPHA:191
Intellectual Developmental Disorder, Autosomal Dominant 54
Dental crowding, Delayed eruption of primary teeth, Urinary retention, Widely spaced teeth, Spars... OMIM:617799
Camurati-Engelmann Disease
Delayed eruption of teeth, Carious teeth, Craniofacial osteosclerosis, Cortical thickening of lon... ORPHA:1328
Singleton-Merten Syndrome 1
Osteopenia, Thin upper lip vermilion, Recurrent respiratory infections, Hypoplasia of the tooth g... OMIM:182250
Craniosynostosis And Dental Anomalies
Mandibular prognathia, Delayed eruption of teeth, Dental crowding, Sagittal craniosynostosis, Hyp... OMIM:614188
Wrinkly Skin Syndrome
Delayed eruption of teeth, Recurrent sinopulmonary infections, Osteopenia, Carious teeth, Cryptor... ORPHA:2834
Wrinkly Skin Syndrome
Microretrognathia, Delayed eruption of teeth, Osteopenia, Short nail, Carious teeth, Cryptorchidi... OMIM:278250
Floating-Harbor Syndrome
Hypospadias, Persistence of primary teeth, Hypoplasia of the maxilla, Cryptorchidism, Carious tee... ORPHA:2044
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations
Delayed eruption of teeth, Highly arched eyebrow, Sparse eyebrow, High palate, Widely spaced teet... OMIM:143095
Wiedemann-Rautenstrauch Syndrome
Osteopenia, Decreased response to growth hormone stimulation test, Synophrys, Wide penis, Downtur... ORPHA:3455
Spondylocarpotarsal Synostosis Syndrome
Failure of eruption of permanent teeth, Enamel hypoplasia, Renal cyst, Cleft palate OMIM:272460
Sponastrime Dysplasia
Mandibular prognathia, Obtuse angle of mandible, Hypospadias, Delayed epiphyseal ossification, Re... ORPHA:93357
Linear Skin Defects With Multiple Congenital Anomalies 3
Delayed eruption of primary teeth, Thyroid C cell hyperplasia OMIM:300952
Mowat-Wilson Syndrome Due To Monosomy 2Q22
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... ORPHA:261537
Mowat-Wilson Syndrome
Delayed eruption of teeth, Hypospadias, Pulmonary artery sling, Supernumerary nipple, Cryptorchid... OMIM:235730
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Short philtrum, ... ORPHA:261552
Mowat-Wilson Syndrome
Mandibular prognathia, Dental crowding, Urinary incontinence, Cleft hard palate, Widely spaced te... ORPHA:2152
Meningioma
Enlarged pituitary gland, Urinary incontinence, Neoplasm of the anterior pituitary, Reduced circu... ORPHA:2495
Lacrimoauriculodentodigital Syndrome 1
Absence of Stensen duct, Delayed eruption of primary teeth, Carious teeth, Coronal hypospadias, N... OMIM:149730
Genitopatellar Syndrome
Delayed eruption of teeth, Sparse scalp hair, Multicystic kidney dysplasia, Micrognathia, Cryptor... OMIM:606170
Pallister-Killian Syndrome
Tented upper lip vermilion, Micrognathia, Renal cyst, Sparse hair, Bifid uvula, Alopecia, Hypospa... OMIM:601803
Full Nf2-Related Schwannomatosis
Astrocytoma, Glioma, Bilateral vestibular schwannoma, Retinal hamartoma, Ependymoma, Peripheral s... ORPHA:637

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 Nf2

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 Nf2.

No publications found that use IMPC mice or data for Nf2.

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
Nf2tm1e(KOMP)Wtsi Targeted, non-conditional allele ES Cells
Nf2tm1a(KOMP)Wtsi KO first allele (reporter-tagged insertion with conditional potential) Targeting vectors, ES Cells

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