Gene: Hic1 MGI:1338010

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

hypermethylated in cancer 1

Synonyms:

HIC-1

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 Hic1 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.

Human diseases associated with Hic1 (1 diseases)
Human diseases predicted to be associated with Hic1 (994 diseases)

The table below shows human diseases associated to Hic1 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
Miller-Dieker Syndrome		Clinodactyly of the 5th finger, Anteverted nares, Omphalocele, Short nose	ORPHA:531

The table below shows human diseases predicted to be associated to Hic1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Acne inversa, Squamous cell carcinoma, Chronic furunculosis, Perifolliculitis, Recurrent cutaneou...	OMIM:613736
Tumor Predisposition Syndrome 1	Cutaneous melanoma, Meningioma, Malignant mesothelioma, Lung adenocarcinoma, Uveal melanoma, Rena...	OMIM:614327
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Stomach cancer, Sarcoma, Breast carcinoma	OMIM:609265
Disseminated Superficial Actinic Porokeratosis	Squamous cell carcinoma, Pruritus	ORPHA:79152
Myofibromatosis, Infantile, 1	Myofibromatosis, Fibroma	OMIM:228550
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Squamous cell carcinoma, Verrucae	OMIM:618267
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Li-Fraumeni Syndrome	Choriocarcinoma, Acute leukemia, Osteosarcoma, Prostate cancer, Nephroblastoma, Lung adenocarcino...	OMIM:151623
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
Cheilitis Glandularis	Squamous cell carcinoma, Neoplasm, Abnormal salivary gland morphology	ORPHA:1221
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Squamous cell carcinoma, Pruritus	ORPHA:409
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Multiple Fibroadenomas Of The Breast	Fibroadenoma of the breast	OMIM:615554
Sarcoma, Synovial	Synovial sarcoma	OMIM:300813
Alveolar Soft Part Sarcoma	Alveolar soft part sarcoma	OMIM:606243
Enchondromatosis, Multiple, Ollier Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:166000
Epidermodysplasia Verruciformis	Verrucae, Pustule, Squamous cell carcinoma, Seborrheic dermatitis, Recurrent skin infections	ORPHA:302
Combined Immunodeficiency Due To Dock8 Deficiency	Pneumonia, Atopic dermatitis, Verrucae, Recurrent respiratory infections, Squamous cell carcinoma...	ORPHA:217390
Acquired Ichthyosis	Lymphoma, Neoplasm, Pruritus, Sarcoma, Recurrent skin infections, Multiple myeloma	ORPHA:454
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Melanoma, Squamous cell carcinoma, Keratitis	ORPHA:90342
Undifferentiated Pleomorphic Sarcoma	Soft tissue sarcoma, Abnormal peritoneum morphology	ORPHA:2023
Pancreatic Cancer, Susceptibility To, 5	Pancreatic adenocarcinoma, Melanoma	OMIM:618680
Multiple Enchondromatosis, Maffucci Type	Hemangioma, Multiple enchondromatosis, Chondrosarcoma	OMIM:614569
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Ovarian neoplasm	ORPHA:50944
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Holoprosencephaly 5	Depressed nasal bridge, Alobar holoprosencephaly, Semilobar holoprosencephaly, Trigonocephaly, An...	OMIM:609637
Verrucous Hemangioma	Hemangioma, Inflammatory abnormality of the skin, Papilloma	ORPHA:464318
Serrated Polyposis Syndrome	Biliary tract neoplasm, Neoplasm of the large intestine, Pancreatic adenocarcinoma, Schwannoma, P...	ORPHA:157798
Craniofacial Microsomia 2	Bifid uvula, Microtia, first degree, Microtia, third degree, Microtia, second degree, Submucous c...	OMIM:620444
Paget Disease, Extramammary	Neoplasm, Eczematoid dermatitis	OMIM:167300
Ichthyosis, Hystrix-Like, With Deafness	Punctate keratitis, Squamous cell carcinoma, Erythroderma	OMIM:602540
Dermatofibrosarcoma Protuberans	Neoplasm of the skin, Fibrosarcoma	ORPHA:31112
Hereditary Breast And/Or Ovarian Cancer Syndrome	Prostate cancer, Melanoma, Primary peritoneal carcinoma, Ovarian neoplasm, Neoplasm of the pancre...	ORPHA:145
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Cheilitis	ORPHA:357154
Bazex Syndrome	Pruritus, Liposarcoma, Lung adenocarcinoma, Neoplasm	ORPHA:166113
Li-Fraumeni Syndrome	Choriocarcinoma, Colon cancer, Stomach cancer, Melanoma, Hodgkin lymphoma, Acute myeloid leukemia...	ORPHA:524
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Progressive Osseous Heteroplasia	Sarcoma, Abnormality of the parathyroid gland, Osteoarthritis	ORPHA:2762
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Hepatic failure, Elevated circulating hepatic transaminase concentration, Colon cancer, Burkitt l...	ORPHA:158057
Necrobiosis Lipoidica	Squamous cell carcinoma, Inflammatory abnormality of the skin	ORPHA:542592
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Poroma, Apocrine hidrocystoma	OMIM:224750
Paraneoplastic Pemphigus	Thymoma, B-cell lymphoma, Sarcoma	ORPHA:63455
Large Congenital Melanocytic Nevus	Neoplasm of the skin, Cutaneous melanoma, Neoplasm, Pruritus, Sarcoma, Rhabdomyosarcoma	ORPHA:626
Acalvaria	Calvarial skull defect, Hydrocephalus, Omphalocele, Spina bifida, Postaxial hand polydactyly, Hol...	ORPHA:945
Chronic Actinic Dermatitis	Allergic rhinitis, Eczematoid dermatitis, Actinic keratosis, Erythroderma, Late onset atopic derm...	ORPHA:330064
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Hartsfield Syndrome	Depressed nasal bridge, Aplasia/Hypoplasia of the radius, Low-set, posteriorly rotated ears, Intr...	ORPHA:2117
Maffucci Syndrome	Pituitary adenoma, Goiter, Chondrosarcoma, Neoplasm of the parathyroid gland, Breast carcinoma, A...	ORPHA:163634
Pityriasis Rubra Pilaris	Eczematoid dermatitis, Neoplasm, Pustule, Erythroderma, Pruritus	ORPHA:2897
Xeroderma Pigmentosum, Complementation Group F	Neoplasm of the skin, Squamous cell carcinoma, Basal cell carcinoma, Keratoacanthoma, Seborrheic ...	OMIM:278760
Xeroderma Pigmentosum, Variant Type	Keratitis, Cutaneous melanoma, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis	OMIM:278750
Ollier Disease	Neoplasm, Hemangioma, Sarcoma, Multiple enchondromatosis, Visceral angiomatosis, Chondrosarcoma	ORPHA:296
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Allergic rhinitis, Atopic dermatitis, Recurrent pneumonia, Eczematoid dermatitis, Cutaneous absce...	OMIM:243700
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Mast Cell Sarcoma	Hepatomegaly, Sarcoma, Splenomegaly	ORPHA:66661
Palmoplantar Carcinoma, Multiple Self-Healing	Squamous cell carcinoma, Carcinoma, Chronic rhinitis	OMIM:615225
Papillon-Lefèvre Syndrome	Neoplasm of the skin, Periodontitis, Pustule, Melanoma, Squamous cell carcinoma, Chronic furuncul...	ORPHA:678
Recurrent Respiratory Papillomatosis	Recurrent upper respiratory tract infections, Recurrent pneumonia, Atelectasis, Squamous cell car...	ORPHA:60032
Liposarcoma	Sarcoma	ORPHA:69078
Conductive Deafness-Malformed External Ear Syndrome	Low-set ears, Conductive hearing impairment, Stenosis of the external auditory canal, Overfolded ...	ORPHA:3216
Fanconi Renotubular Syndrome 5	Emphysema, Pulmonary fibrosis, Lung adenocarcinoma	OMIM:618913
Cutaneous Neuroendocrine Carcinoma	Neoplasm of the outer ear, Squamous cell carcinoma of the skin, Merkel cell skin cancer, Carcinoi...	ORPHA:79140
Immunodeficiency 51	Pneumonia, Folliculitis, Chronic mucocutaneous candidiasis, Eczematoid dermatitis, Cutaneous absc...	OMIM:613953
Familial Melanoma	Melanoma, Neoplasm of the stomach, Neoplasm of the breast, Neoplasm of the pancreas	ORPHA:618
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Vitamin K Antagonist Embryofetopathy	Short distal phalanx of finger, Choanal atresia, Depressed nasal bridge, Hearing impairment, Myel...	ORPHA:1914
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Atelectasis, Interlobular septal thickening, Malignan...	ORPHA:2302
Infantile Myofibromatosis	Neoplasm of the skin, Benign neoplasm of the central nervous system, Fibroma, Sarcoma, Gingival f...	ORPHA:2591
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Desmoplastic Small Round Cell Tumor	Testicular neoplasm, Abnormal peritoneum morphology, Hepatomegaly, Sarcoma, Ovarian neoplasm, Neo...	ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Hyperparathyroidism 2 With Jaw Tumors	Hyperparathyroidism, Parathyroid carcinoma, Pancreatic adenocarcinoma, Papillary renal cell carci...	OMIM:145001
Mosaic Trisomy 14	Wide nasal bridge, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, ...	ORPHA:1703
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Yellow Nail Syndrome	Biliary tract neoplasm, Recurrent respiratory infections, Neoplasm, Rhinitis, Sinusitis, Renal ne...	ORPHA:662
Aminopterin/Methotrexate Embryofetopathy	Wide nasal bridge, Spinal dysraphism, Finger syndactyly, Micromelia, Low-set, posteriorly rotated...	ORPHA:1908
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Micromelia, Intrauterine growth retardation, Abnormal antihelix morphology, Tu...	ORPHA:2145
Distal Monosomy 7Q36	Abnormal calvaria morphology, Bulbous nose, Symphalangism affecting the phalanges of the hand, Cl...	ORPHA:1636
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Pituitary adenoma, Hashimoto thyroiditis, Renal angiomyolipoma, Carcinoid tu...	OMIM:610755
Gcgr-Related Hyperglucagonemia	Cholelithiasis, Glucagonoma, Neoplasm of the pancreas, Abnormal biliary tract morphology	ORPHA:438274
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Chromosome 3Q13.31 Deletion Syndrome	Low-set ears, Alobar holoprosencephaly, Plagiocephaly, Brachycephaly, Dolichocephaly, High palate...	OMIM:615433
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Oropharyngeal squamous cell carcinoma, Actinic keratosis, Breast carcinoma	OMIM:614564
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Low-set ears, Depressed nasal bridge, Toe syndactyly, Umbilical hernia, Anteverted nares, Short c...	ORPHA:171839
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Low-set ears, Foot oligodactyly, Anterior encephalocele, Bilateral cleft palate, Omphalocele, Hol...	OMIM:601357
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Acrocephalopolydactyly	Depressed nasal ridge, Oxycephaly, Limb undergrowth, Brachydactyly, Short nose, Microtia	ORPHA:221054
Bullous Diffuse Cutaneous Mastocytosis	Cutaneous mastocytosis, Pruritus, Erythroderma	ORPHA:280785
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Underdeveloped nasal alae, Anteverted nares, Congenital pyloric atresia, Neonatal death, Microtia	OMIM:612138
Camptodactyly Syndrome, Guadalajara Type 1	Short distal phalanx of finger, Depressed nasal bridge, Toe syndactyly, Short toe, Camptodactyly ...	ORPHA:1327
Isotretinoin Syndrome	Depressed nasal bridge, Abnormality of the outer ear, Spina bifida occulta, Biparietal narrowing,...	ORPHA:2305
Gastrointestinal Stromal Tumor	Neoplasm of the colon, Abnormality of the liver, Skin rash, Esophageal neoplasm, Neoplasm of the ...	ORPHA:44890
Werner Syndrome	Gastrointestinal carcinoma, Cutaneous melanoma, Neoplasm of the oral cavity, Meningioma, Acral le...	ORPHA:902
Gardner Syndrome	Colon cancer, Ampulla of Vater carcinoma, Hepatoblastoma, Brain neoplasm, Osteoma, Fibrosarcoma, ...	ORPHA:79665
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Wide nasal bridge, Conductive hearing impairment, Underdeveloped nasal alae, Joint contracture of...	OMIM:248910
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Mandibulofacial Dysostosis-Microcephaly Syndrome	Low-set ears, Abnormality of the outer ear, Absent tragus, Conductive hearing impairment, Atresia...	ORPHA:79113
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Holoprosencephaly, Tapered finger	OMIM:619033
Genitourinary And/Or Brain Malformation Syndrome	Low-set ears, Abnormality of the outer ear, Ileal atresia, Aplasia of the nasal bone, Protruding ...	OMIM:618820
Lambotte Syndrome	Semilobar holoprosencephaly, Atresia of the external auditory canal, Preaxial foot polydactyly, I...	OMIM:245552
Monosomy 18P	Wide nasal bridge, Abnormal antihelix morphology, Protruding ear, Brachycephaly, Brachydactyly, H...	ORPHA:1598
Thanatophoric Dysplasia Type 2	Depressed nasal bridge, Micromelia, Hearing impairment, Frontal bossing, Encephalocele, Hydroceph...	ORPHA:93274
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Pelvic bone exostoses, Multiple exostoses, Chondrosarcoma	OMIM:133700
Chromomycosis	Keratitis, Squamous cell carcinoma, Keratoconjunctivitis sicca, Multiple cutaneous malignancies, ...	ORPHA:182
Microtia	Hypoplastic helices, Atresia of the external auditory canal, Anotia, Unilateral conductive hearin...	ORPHA:83463
Chromosome 1Q41-Q42 Deletion Syndrome	Low-set ears, Depressed nasal bridge, Broad nasal tip, Sandal gap, Trigonocephaly, Anteverted nar...	OMIM:612530
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Squamous cell carcinoma, Multinodular goiter	OMIM:618373
Holoprosencephaly 7	Hypoplastic nasal septum, Alobar holoprosencephaly, Bilateral cleft palate, Bifid nose, Absent na...	OMIM:610828
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Rhabdoid Tumor	Renal neoplasm, Sarcoma, Neoplasm of the liver, Neoplasm of the central nervous system	ORPHA:69077
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Short nose	ORPHA:2015
Ring Chromosome 8 Syndrome	Deviation of finger, Anteverted nares, Round ear, Frontal bossing, Short nose	ORPHA:1450
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Low-set ears, Hydranencephaly, Camptodactyly of finger, Intrauterine growth retardation, Adducted...	ORPHA:2570
Sézary Syndrome	Neoplasm of the skin, Lymphoma, Abnormal pleura morphology, Splenomegaly, Erythroderma, Hepatomeg...	ORPHA:3162
Catifa Syndrome	Delayed eruption of teeth, Anteverted nares, Inguinal hernia, Camptodactyly, Cleft palate, Microtia	OMIM:618761
Agnathia-Otocephaly Complex	Low-set ears, Microglossia, Conductive hearing impairment, Aglossia, Synotia, Holoprosencephaly, ...	OMIM:202650
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Pemphigus Foliaceus	Neoplasm of the skin, Psoriasiform dermatitis, Crusting erythematous dermatitis, Pustule, Hematol...	ORPHA:79481
Chilblain Lupus	Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomonocytic leukemia, Malar ...	ORPHA:90280
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Oculoauriculofrontonasal Syndrome	Bifid nasal tip, Conductive hearing impairment, Underdeveloped nasal alae, Encephalocele, Microti...	ORPHA:398156
Triploidy	Finger syndactyly, Low-set, posteriorly rotated ears, Intestinal malrotation, Intrauterine growth...	ORPHA:3376
17Q21.31 Microduplication Syndrome	Abnormality of the outer ear, Toe syndactyly, Sandal gap, Anteverted nares, Clinodactyly of the 5...	ORPHA:217340
Mycosis Fungoides	Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Psoriasiform dermatitis, Pruritus	OMIM:254400
1Q41Q42 Microdeletion Syndrome	Depressed nasal bridge, Broad nasal tip, Underdeveloped nasal alae, Submucous cleft hard palate, ...	ORPHA:250999
Adenylosuccinate Lyase Deficiency	Low-set ears, Anteverted nares, Brachycephaly, Short nose, Flat occiput	ORPHA:46
Microcephaly 6, Primary, Autosomal Recessive	Bifid nasal tip, Microtia	OMIM:608393
Non-Distal Duplication 10Q	Depressed nasal bridge, Low-set, posteriorly rotated ears, Brachycephaly, Convex nasal ridge, Hig...	ORPHA:1695
Kid Syndrome	Neoplasm of the skin, Trichilemmoma, Posterior blepharitis, Folliculitis, Acne inversa, Keratitis...	ORPHA:477
Ovarian Fibrothecoma	Abnormality of the ovary, Pleural effusion, Diffuse leiomyomatosis, Peritonitis, Ovarian fibroma,...	ORPHA:314478
Pancreatic Agenesis-Holoprosencephaly Syndrome	Abnormal external nose morphology, Low-set ears, Semilobar holoprosencephaly, Intrauterine growth...	ORPHA:556955
Basal Cell Nevus Syndrome 2	Neurofibroma, Meningioma, Medulloblastoma, Angiofibromas, Basal cell carcinoma	OMIM:620343
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Wide nasal bridge, Low-set ears, Skull asymmetry, Stapes ankylosis, Velopharyngeal insufficiency,...	OMIM:614701
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Tapered finger	OMIM:300706
Nabais Sa-De Vries Syndrome, Type 2	Low-set ears, Depressed nasal bridge, Frontal bossing, Bulbous nose, Prominent nose, Anteverted n...	OMIM:618829
Milroy Disease	Neoplasm of the skin, Erysipelas, Angiosarcoma, Hydrocele testis	ORPHA:79452
17P13.3 Microduplication Syndrome	Low-set ears, Inguinal hernia, Clinodactyly of the 5th finger, High palate, Frontal bossing, Shor...	ORPHA:217385
Cebalid Syndrome	Low-set ears, Depressed nasal bridge, Depressed nasal ridge, Plagiocephaly, Platystencephaly, Hea...	OMIM:618774
Beta-Mercaptolactate Cysteine Disulfiduria	Hypoplasia of the ear cartilage, Micromelia, Sandal gap, Umbilical hernia, Low-set, posteriorly r...	ORPHA:1035
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Short distal phalanx of finger, Finger syndactyly, Camptodactyly of finger, Low-set, posteriorly ...	ORPHA:2994
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Squamous cell carcinoma, Keratoconjunctivitis sicca, Keratitis, Recurrent bacterial skin infections	OMIM:148210
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Low-set, posteriorly rotated ears, Narrow in...	ORPHA:990
Lethal Osteosclerotic Bone Dysplasia	Low-set ears, Depressed nasal ridge, Intrauterine growth retardation, Anteverted nares, Median cl...	ORPHA:1832
Fanconi Anemia, Complementation Group P	Squamous cell carcinoma, Cryptorchidism	OMIM:613951
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Squamous cell carcinoma of the skin, Melanoma, Basal cell carcinoma, Conjunctivitis	OMIM:278740
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal carcinoma, Pancreatic adenocarcinoma, Neoplasm of the co...	ORPHA:2869
Distal Deletion 9P	Wide nasal bridge, Aplasia/Hypoplasia of the earlobes, Abnormal helix morphology, High, narrow pa...	ORPHA:1642
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Holoprosencephaly, Hydrocephalus	OMIM:617967
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Dysplasia of the femoral head, Brachycephaly, High palate...	OMIM:616854
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Low-set ears, Flat occiput, Clinodactyly, Thick nasal alae, Hypoplasia of the ulna, Microtia, Wid...	ORPHA:357175
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Squamous cell carcinoma	OMIM:226600
Zechi-Ceide Syndrome	Wide nasal bridge, Short distal phalanx of finger, Low-set ears, Abnormal helix morphology, Condu...	ORPHA:217017
Meier-Gorlin Syndrome 8	Low-set ears, Intrauterine growth retardation, Microtia	OMIM:617564
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Eczematoid dermatitis, Lymphoma, Myelodysplasia	OMIM:616871
Birt-Hogg-Dube Syndrome 1	Spontaneous pneumothorax, Cutaneous leiomyoma, Colon cancer, Cutaneous leiomyosarcoma, Multiple l...	OMIM:135150
Tropical Calcific Pancreatitis	Pancreatic calcification, Chronic pancreatitis, Neoplasm of the pancreas	OMIM:608189
Desmoid Tumor	Neoplasm of the skin, Intestinal polyposis, Fibroma, Desmoid tumors	ORPHA:873
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Sweeney-Cox Syndrome	Low-set ears, Crumpled ear, Hearing impairment, Velopharyngeal insufficiency, 2-5 finger cutaneou...	OMIM:617746
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Low-set ears, Depressed nasal ridge, Rhizomelia, Metaphyseal cupping of metacarpals, Metaphyseal ...	OMIM:300863
Holoprosencephaly-Caudal Dysgenesis Syndrome	Low-set ears, Radial club hand, Abnormal morphology of the radius, Holoprosencephaly, Cleft palate	ORPHA:2165
Intellectual Developmental Disorder, Autosomal Recessive 35	Low-set ears, Flat occiput, Clinodactyly, Thick nasal alae, Hypoplasia of the ulna, Microtia, Wid...	OMIM:615162
Coxoauricular Syndrome	Hearing impairment, Microtia	OMIM:122780
Parenti-Mignot Neurodevelopmental Syndrome	Low-set ears, Cupped ear, Frontal bossing, Prominent nasal bridge, Prominent nasal tip, Craniosyn...	OMIM:619873
Legius Syndrome	Acute monocytic leukemia, Vestibular schwannoma, Nephroblastoma, Multiple lipomas, Non-small cell...	ORPHA:137605
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Postaxial foot polydactyly, Atresia of the external auditory canal, ...	OMIM:146510
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Low-set ears, Clinodactyly, Hearing impairment, Frontal bossing, Recurrent oti...	OMIM:613604
Wilson-Turner Syndrome	Small hand, Broad nasal tip, Tapered finger, Short foot, Microtia	ORPHA:3459
Pfeiffer Syndrome Type 1	Low-set ears, Depressed nasal bridge, Broad thumb, Toe syndactyly, Finger syndactyly, Hearing imp...	ORPHA:93258
Clark-Baraitser Syndrome	Low-set ears, Depressed nasal bridge, Sandal gap, Clinodactyly, Large earlobe, Anteverted nares, ...	OMIM:617752
Intellectual Developmental Disorder, X-Linked 91	Short 5th finger, Small hand, Clinodactyly, High palate, Short foot, Short nose	OMIM:300577
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Ovarian teratoma, Neoplasm, Melanoma, Neuroblastoma, Neoplasm of the l...	ORPHA:1183
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Cutaneous melanoma, Squamous cell carcinoma of the skin, Actinic keratosis, Basal cell...	OMIM:278720
Iniencephaly	Low-set ears, Rhizomelia, Spinal dysraphism, Rocker bottom foot, Myelomeningocele, Abnormal occip...	ORPHA:63259
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Camptodactyly of finger, Duodenal stenosis, Symphalangism affecting the phalanges of the hand, Fr...	ORPHA:2547
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Low-set ears, Depressed nasal ridge, Metaphyseal cupping of metacarpals, Rhizomelia, Abnormality ...	ORPHA:163966
Short-Rib Thoracic Dysplasia 12	Low-set ears, Natal tooth, Neonatal death, Short foot, Holoprosencephaly, Abnormal pinna morpholo...	OMIM:269860
Microtia-Anotia	Anotia, Holoprosencephaly, Microtia	OMIM:600674
Trichothiodystrophy 1, Photosensitive	Basal cell carcinoma, Squamous cell carcinoma, Keratoconjunctivitis sicca, Erythroderma	OMIM:601675
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Broad thumb, Atresia of the external auditory canal, Umbilical hernia, Low-set, posteriorly rotat...	ORPHA:1770
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma	ORPHA:1501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Squamous cell carcinoma of the skin, Portal hypertension, Cryptorchidism, Pulmonary fi...	OMIM:620365
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Trisomy 18	Pointed helix, Choanal atresia, Narrow palate, Deviation of finger, Camptodactyly of finger, Low-...	ORPHA:3380
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
6Q16 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Bulbous nose, Anteverted nares, Abnormal ear morphology, Mi...	ORPHA:171829
Familial Reactive Perforating Collagenosis	Inflammatory abnormality of the skin, Maculopapular exanthema, Crusting erythematous dermatitis, ...	ORPHA:79147
16P13.11 Microdeletion Syndrome	Low-set ears, Depressed nasal bridge, Atresia of the external auditory canal, Camptodactyly of fi...	ORPHA:261236
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Low-set ears, Depressed nasal bridge, Metaphyseal cupping, Micromelia, Wide distal femoral metaph...	OMIM:613320
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Low-set ears, Bifid uvula, Small hand, Plagiocephaly, Sandal gap, Clinodactyly, Short foot, Poste...	OMIM:618089
Bloom Syndrome	Recurrent upper respiratory tract infections, Lymphoma, Malar rash, Hepatic steatosis, Cryptorchi...	OMIM:210900
Endocrine-Cerebroosteodysplasia	Wide nasal bridge, Low-set ears, Natal tooth, Sandal gap, Micromelia, Preaxial polydactyly, Depre...	OMIM:612651
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Anal atresia, Hol...	ORPHA:1590
Weiss-Kruszka Syndrome	Low-set ears, Abnormality of the outer ear, Hearing impairment, Prominent nasal tip, Clinodactyly...	ORPHA:502430
Acrofacial Dysostosis, Rodríguez Type	Finger aplasia, Aplasia/Hypoplasia of the radius, Finger syndactyly, Intrauterine growth retardat...	ORPHA:1788
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Trigonocephaly, Anteverted nares, Posteriorly rotated ears, Clinodactyly of the 5th...	OMIM:618506
Diffuse Cutaneous Mastocytosis	Abnormality of the spleen, Abnormality of the liver, Myeloproliferative disorder, Erythroderma, H...	ORPHA:79456
Lynch Syndrome	Neoplasm of the skin, Neoplasm of the skeletal system, Neoplasm of the rectum, Hematological neop...	ORPHA:144
Immunodeficiency 58	Allergic rhinitis, Recurrent pneumonia, Verrucae, Bronchiectasis, Eczematoid dermatitis, Cutaneou...	OMIM:618131
Oncogenic Osteomalacia	Neurofibroma, Neoplasm of head and neck, Neoplasm of the skeletal system, Giant cell tumor of bon...	ORPHA:352540
Holoprosencephaly 11	Holoprosencephaly, Cleft palate	OMIM:614226
Mandibulofacial Dysostosis With Alopecia	Wide nasal bridge, Low-set ears, Cupped ear, Conductive hearing impairment, Stenosis of the exter...	OMIM:616367
Familial Colorectal Cancer Type X	Uterine neoplasm, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm of the colon, Stomach ca...	ORPHA:440437
Tarp Syndrome	Wide nasal bridge, Low-set ears, Prominent antihelix, Clinodactyly, Meckel diverticulum, Intraute...	OMIM:311900
Mandibulofacial Dysostosis, Guion-Almeida Type	Low-set ears, Slender finger, Choanal atresia, Conductive hearing impairment, Atresia of the exte...	OMIM:610536
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Frontal bossing, Microtia	OMIM:618158
Microphthalmia/Coloboma 5	Holoprosencephaly	OMIM:611638
Microtia, Hearing Impairment, And Cleft Palate	Stenosis of the external auditory canal, Increased incisura length, Mixed hearing impairment, Ove...	OMIM:612290
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Low-set ears, Depressed nasal bridge, Semilobar holoprosencephaly, Conductive hearing impairment,...	OMIM:618500
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Intrauterine growth retardation, Abnormal metacarpal morpholog...	ORPHA:2370
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Conductive hearing impairment, Atresia of the external auditory canal, Median cl...	ORPHA:2213
49,Xxxxy Syndrome	Depressed nasal ridge, Depressed nasal bridge, Delayed eruption of teeth, Talipes equinovarus, Ra...	ORPHA:96264
Holoprosencephaly, Semilobar, With Craniosynostosis	Lambdoidal craniosynostosis, Short distal phalanx of finger, Coronal craniosynostosis, Semilobar ...	OMIM:601370
Femoral-Facial Syndrome	Aplasia/Hypoplasia of the tibia, Low-set ears, Preaxial foot polydactyly, Inguinal hernia, Talipe...	ORPHA:1988
Saethre-Chotzen Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Hearing impairment, Prominent crus of helix, Abnorm...	ORPHA:794
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu valgum, Spina bifida occulta, Severe sensorineural hearin...	ORPHA:2983
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Broad thumb, Thickened helices, Broad hallux phalanx, ...	ORPHA:261295
Cancer-Associated Retinopathy	Small cell lung carcinoma, Thymoma, Uterine neoplasm, Cutaneous melanoma, Pancreatic adenocarcino...	ORPHA:71505
Monosomy 13Q14	Wide nasal bridge, Low-set ears, Finger syndactyly, Trigonocephaly, Intrauterine growth retardati...	ORPHA:1587
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Short distal phalanx of finger, Large earlobe, Short columella, Short nose	OMIM:155050
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Intellectual Developmental Disorder, X-Linked 30	Prominent fingertip pads, Macrotia, Anteverted nares, Prominent nasal bridge, Hydrocephalus, High...	OMIM:300558
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Low-set ears, Broad thumb, Toe syndactyly, Hearing impairment, Flat occiput, Aplasia/Hypoplasia o...	ORPHA:505237
14Q11.2 Microdeletion Syndrome	Toe clinodactyly, Depressed nasal bridge, Toe syndactyly, Low-set, posteriorly rotated ears, High...	ORPHA:261120
Microform Holoprosencephaly	Choanal atresia, Intrauterine growth retardation, Narrow nasal bridge, Anteverted nares, Midnasal...	ORPHA:280200
Branchiootic Syndrome 1	Low-set ears, Dilatated internal auditory canal, Branchial fistula, Cupped ear, Sensorineural hea...	OMIM:602588
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Cleft palate, Microtia	OMIM:243440
Diabetic Embryopathy	Spinal dysraphism, Hearing impairment, Low-set, posteriorly rotated ears, Hydrocephalus, Frontal ...	ORPHA:1926
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Holoprosencephaly-Craniosynostosis Syndrome	Short distal phalanx of finger, Plagiocephaly, Brachycephaly, Brachydactyly, Clinodactyly of the ...	ORPHA:2163
Cowden Syndrome 1	Thyroiditis, Thyroid adenoma, Subcutaneous lipoma, Meningioma, Goiter, Fibroadenoma of the breast...	OMIM:158350
Omenn Syndrome	Pneumonia, Lymphoma, Splenomegaly, Erythroderma, Hepatomegaly, Pruritus, Thyroiditis	ORPHA:39041
Meckel Syndrome, Type 8	Low-set ears, Depressed nasal ridge, Occipital encephalocele, Encephalocele, Polydactyly, Talipes...	OMIM:613885
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Wide nasal bridge, Plagiocephaly, Clinodactyly, Anteverted nares, Unilambdoid synostosis, Brachyc...	OMIM:618577
Retinoblastoma	Pinealoma, Lymphoma, Ewing sarcoma, Retinoblastoma, Leukemia, Osteosarcoma	OMIM:180200
Intellectual Developmental Disorder, Autosomal Dominant 43	Wide nasal bridge, Umbilical hernia, Anteverted nares, Prominent nasal bridge, Attached earlobe, ...	OMIM:616977
Pfeiffer Syndrome Type 2	Low-set ears, Small hand, Toe syndactyly, Broad thumb, Finger syndactyly, Atresia of the external...	ORPHA:93259
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Postaxial foot polydactyly, Toe syndactyly, Occipital encephalocele, Micr...	OMIM:241800
Perlman Syndrome	Wide nasal bridge, Low-set ears, High, narrow palate, Anteverted nares, Inguinal hernia, Dolichoc...	ORPHA:2849
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Wide nasal bridge, Low-set ears, Plagiocephaly, Short columella, Turricephaly, Talipes equinovaru...	OMIM:613603
Schilbach-Rott Syndrome	2-3 toe cutaneous syndactyly, Bifid uvula, Clinodactyly, Prominent nose, Submucous cleft hard pal...	OMIM:164220
Hemifacial Atrophy, Progressive	Tongue atrophy, Delayed eruption of teeth, Microtia	OMIM:141300
Edinburgh Malformation Syndrome	Low-set ears, Slender finger, Ulnar deviation of finger, Choanal atresia, Anteverted nares, Hydro...	ORPHA:1895
Weiss-Kruszka Syndrome	Low-set ears, Cupped ear, Hearing impairment, Horizontal crus of helix, Anteverted nares, Overfol...	OMIM:618619
Rothmund-Thomson Syndrome	Neoplasm of the skin, Basal cell carcinoma, Malar rash, Skin rash, Melanoma, Squamous cell carcin...	ORPHA:2909
Ring Chromosome 21 Syndrome	Small hand, Holoprosencephaly, Clinodactyly, Syndactyly	ORPHA:1445
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the earlobes, Conductive hearing impairment, Ectrodactyly, Radial club hand...	ORPHA:2878
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Short thumb, Underdeveloped nasal alae, Overlapping toe, Abnormal columella ...	ORPHA:436003
Hypertelorism, Microtia, Facial Clefting Syndrome	Short 5th finger, Broad nasal tip, Conductive hearing impairment, Atresia of the external auditor...	OMIM:239800
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Microtia	ORPHA:939
Pseudotrisomy 13 Syndrome	Low-set ears, Postaxial foot polydactyly, Median cleft palate, Encephalocele, 2-3 toe syndactyly,...	OMIM:264480
Fetal Trimethadione Syndrome	Low-set ears, Depressed nasal bridge, Abnormal helix morphology, Intrauterine growth retardation,...	ORPHA:1913
Pleuropulmonary Blastoma	Rhabdomyosarcoma, Pleuropulmonary blastoma, Medulloblastoma	OMIM:601200
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Holoprosencephaly, Hydrocephalus, Adducted thumb	ORPHA:2182
Hemifacial Microsomia With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Triphalangeal thumb, Compl...	OMIM:141400
Distal Deletion 17Q	Small hand, Deviation of finger, Micromelia, Aplasia/Hypoplasia of the uvula, Low-set, posteriorl...	ORPHA:1597
Fg Syndrome Type 1	Finger syndactyly, Clinodactyly of the 2nd finger, Sensorineural hearing impairment, Broad toe, A...	ORPHA:93932
Short Stature And Facioauriculothoracic Malformations	Low-set ears, Cupped ear, Overfolded helix, High palate, Cleft palate, Microtia	OMIM:609654
Kerion Celsi	Inflammatory abnormality of the skin, Recurrent skin infections, Recurrent cutaneous abscess form...	ORPHA:499
Tetraploidy	Hypoplasia of the ear cartilage, Radial club hand, Intrauterine growth retardation, Convex nasal ...	ORPHA:3305
Rhiny	Anteverted nares, Inguinal hernia, Short nose	OMIM:180360
Potocki-Shaffer Syndrome	Wide nasal bridge, Parietal foramina, Underdeveloped nasal alae, Turricephaly, 2-5 finger cutaneo...	OMIM:601224
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Camptodactyly of finger, Intrauterine growth retardation, Death in infancy, Protruding ear, Short...	ORPHA:1495
Muscle-Eye-Brain Disease	Meningocele, Holoprosencephaly, Hydrocephalus	ORPHA:588
20Q11.2 Microduplication Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set, posteriorly rotated ears, Short nose, Antever...	ORPHA:363659
Holoprosencephaly	Encephalocele, Abnormal antihelix morphology, Holoprosencephaly, Abnormal pinna morphology, Macro...	ORPHA:2162
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Low-set ears, Clinodactyly of the 2nd finger, Velopharyngeal insufficiency, Diaphyseal undertubul...	OMIM:620663
Humeroradial Synostosis	Wide nasal bridge, Humeroradial synostosis, Brachycephaly, Small earlobe, Microtia	OMIM:236400
Steinfeld Syndrome	Bifid uvula, Hearing impairment, Aplasia of the nose, Median cleft palate, Aplasia/Hypoplasia of ...	OMIM:184705
Chromosome 6Q11-Q14 Deletion Syndrome	Low-set ears, Broad nasal tip, Umbilical hernia, Prominent nasal bridge, Inguinal hernia, Talipes...	OMIM:613544
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyoma, Cutaneous leiomyosarcoma, Renal cell carcinoma, Multiple cutaneous leiomyoma...	OMIM:150800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Low-set ears, Clinodactyly, Frontal bossing, Narrow nose, Intrauterine growth retardation, Metaph...	OMIM:618336
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Low-set, posteriorly rotated ears, Anteverted nares, Hearing abnormali...	ORPHA:2031
Ring Chromosome 7 Syndrome	Short 5th finger, Slender finger, Small hand, Wide nasal bridge, Plagiocephaly, Bifid uvula, Narr...	ORPHA:1449
Pelvis-Shoulder Dysplasia	Fifth finger distal phalanx clinodactyly, Hydranencephaly, Microglossia, Camptodactyly of finger,...	ORPHA:2839
Holoprosencephaly 3	Depressed nasal bridge, Bifid uvula, Abnormality of the nose, Proboscis, Short columella, Holopro...	OMIM:142945
Holoprosencephaly 14	Low-set ears, Alobar holoprosencephaly, Proboscis, Anteverted nares, Cleft palate, Hydrocephalus,...	OMIM:619895
Postaxial Acrofacial Dysostosis	Cupped ear, Finger syndactyly, Conductive hearing impairment, Camptodactyly of finger, Low-set, p...	ORPHA:246
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Recurrent upper respiratory tract infections, Inflammatory abnormality of the skin, Eczematoid de...	ORPHA:391487
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colon cancer, Malignant genitourinary tract tumor, Duodenal adenocarci...	OMIM:158320
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Isotretinoin-Like Syndrome	Atresia of the external auditory canal, Anotia, Intrauterine growth retardation, Anteverted nares...	ORPHA:2306
Jacobsen Syndrome	Low-set ears, Depressed nasal bridge, Pyloric stenosis, Trigonocephaly, Intrauterine growth retar...	OMIM:147791
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Decreased testicular size, Laryngeal carcinoma, Carcinoma	OMIM:610644
Dyskeratosis Congenita, X-Linked	Decreased testicular size, Cryptorchidism, Oropharyngeal squamous cell carcinoma, Hodgkin lymphom...	OMIM:305000
Hereditary Acrokeratotic Poikiloderma	Eczematoid dermatitis, Pustule, Keratoconjunctivitis, Squamous cell carcinoma, Transitional cell ...	ORPHA:2907
Meckel Syndrome 14	Low-set ears, Postaxial foot polydactyly, Occipital encephalocele, Anteverted nares, Decreased ca...	OMIM:619879
Distal Duplication 18Q	Choanal atresia, Deviation of finger, Camptodactyly of finger, Low-set, posteriorly rotated ears,...	ORPHA:1716
19P13.3 Microduplication Syndrome	Low-set ears, Clinodactyly, Underdeveloped nasal alae, Intrauterine growth retardation, Prominent...	ORPHA:447980
Johnson Neuroectodermal Syndrome	Choanal atresia, Anosmia, Conductive hearing impairment, Atresia of the external auditory canal, ...	ORPHA:2316
Oculocutaneous Albinism Type 1B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:79434
Classic Mycosis Fungoides	Neoplasm of the skin, Eczematoid dermatitis, Lymphoma, Skin rash, Splenomegaly, Hepatomegaly, Pru...	ORPHA:2584
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Squamous cell carcinoma, Recurrent skin infections	ORPHA:89842
Kindler Epidermolysis Bullosa	Cheilitis, Inflammation of the large intestine, Periodontitis, Esophagitis, Neoplasm of the ureth...	ORPHA:2908
Dermatomyositis	Elevated circulating hepatic transaminase concentration, Heliotrope rash, Lymphoma, Neoplasm, Ski...	ORPHA:221
Chromosome 13Q14 Deletion Syndrome	Low-set ears, Hearing impairment, Umbilical hernia, Bulbous nose, Overlapping toe, Inguinal herni...	OMIM:613884
Von Hippel-Lindau Syndrome	Retinal capillary hemangioma, Pancreatic cysts, Pheochromocytoma, Paraganglioma, Renal cell carci...	OMIM:193300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Umbilical hernia, Low-set, posteriorly rotated ears, Intestinal malrotation, Encephalocele, Absen...	ORPHA:2166
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Wide nasal bridge, Broad nasal tip, Hearing impairment, Umbilical hernia, Bulbous nose, Overlappi...	OMIM:620475
Verloove Vanhorick-Brubakk Syndrome	Low-set ears, Finger syndactyly, Atresia of the external auditory canal, Abnormal femur morpholog...	ORPHA:3429
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Inguinal hernia, Arachnodactyly, Talipes equinovarus, Protruding ear, Brachycephaly, Adducted thu...	OMIM:615539
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Low-set ears, Hearing impairment, Anteverted nares, Wide nose, Craniosynostosis, Microtia	OMIM:619056
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Depressed nasal bridge, Hearing impairment, Intestinal lymphangiectasia, Syndactyly, Camptodactyl...	OMIM:616006
Robinow Syndrome, Autosomal Recessive 2	Wide nasal bridge, Low-set ears, Broad thumb, Broad nasal tip, Clinodactyly, Prominent fingertip ...	OMIM:618529
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Cupped ear, Anteriorly placed anus, Intrauterine growth retardation, Hearing a...	ORPHA:1352
Distal Triplication 15Q	Low-set ears, Abnormal helix morphology, Cupped ear, Intrauterine growth retardation, Sensorineur...	ORPHA:314588
Holoprosencephaly 4	Depressed nasal bridge, Semilobar holoprosencephaly, Depressed nasal tip, Median cleft palate, Ab...	OMIM:142946
Autosomal Recessive Omodysplasia	Low-set ears, Depressed nasal bridge, Rhizomelia, Micromelia, Frontal bossing, Short nose, Anteve...	ORPHA:93329
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Meckel diverticulum, Frontal bossing, Thick nasal alae, Hydrocephalus, Posteriorly ...	ORPHA:163961
Pierpont Syndrome	Broad nasal tip, Short toe, Prominent fingertip pads, Short finger, Hearing impairment, Large fle...	OMIM:602342
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Keratoconjunctivitis sicca	ORPHA:43393
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Wide nasal bridge, Hearing impairment, Short nose, Narrow palate, Microtia, Frontal bossing, Macr...	OMIM:620250
Isolated Exencephaly	Low-set ears, Depressed nasal bridge, Hypoplasia of the frontal bone, Abnormal calvaria morpholog...	ORPHA:563612
Acitretin/Etretinate Embryopathy	Hypoplastic nasal septum, Cupped ear, Abnormality of the calcaneus, Anteverted nares, Median clef...	ORPHA:40366
Craniodigital-Intellectual Disability Syndrome	Finger syndactyly, Narrow nasal bridge, Brachycephaly, Spina bifida occulta, Short nose	ORPHA:1514
Hartsfield Syndrome	Low-set ears, Hypoplasia of the frontal bone, Alobar holoprosencephaly, Semilobar holoprosencepha...	OMIM:615465
Branchiootorenal Syndrome 1	Bifid uvula, Dilatated internal auditory canal, Branchial fistula, Branchial cyst, Cupped ear, Co...	OMIM:113650
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteomyelitis leading to amputation due to slow healing fractures, Fibrosarcoma, Osteosarcoma, Hi...	OMIM:112250
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the scrotum, Uterine neoplasm, Neoplasm of the pancreas, Jaundice, Pancreatitis, Brai...	ORPHA:370348
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Colon cancer, Pancre...	ORPHA:1333
Familial Multinodular Goiter	Sertoli cell neoplasm, Pleuropulmonary blastoma, Alveolar rhabdomyosarcoma, Thyroid carcinoma, Pi...	ORPHA:276399
Solitary Median Maxillary Central Incisor	Anosmia, Choanal atresia, Midnasal stenosis, Abnormal nasopharynx morphology, Holoprosencephaly, ...	OMIM:147250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Low-set ears, Depressed nasal bridge, Conductive hearing impairment, Recurrent otitis media, Intr...	OMIM:616910
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Natal tooth, Fibular aplasia, Arachnodactyly, Talipes equinovarus, High palate, Ana...	OMIM:300373
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Low-set ears, Depressed nasal bridge, Proximal femoral epiphysiolysis, Skull asymmetry, Frontal b...	OMIM:616723
Seckel Syndrome 7	Intrauterine growth retardation, Prominent nose, Clinodactyly of the 5th finger, Short middle pha...	OMIM:614851
Coxoauricular Syndrome	Atresia of the external auditory canal, Micromelia, Hearing impairment, Abnormal femur morphology...	ORPHA:1508
Immunodeficiency 110 With Lymphoproliferation	Recurrent pneumonia, Verrucae, Recurrent upper respiratory tract infections, Chronic mucocutaneou...	OMIM:614868
Ohdo Syndrome	Wide nasal bridge, Depressed nasal bridge, Hearing impairment, Stenosis of the external auditory ...	OMIM:249620
Meige Disease	Recurrent bacterial skin infections, Recurrent skin infections, Pleural effusion, Angiosarcoma	ORPHA:90186
Pfeiffer Syndrome	Choanal atresia, Shortening of all middle phalanges of the fingers, Broad thumb, 3-4 toe cutaneou...	OMIM:101600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Wide nasal bridge, Depressed nasal ridge, Low-set ears, Broad thumb, Finger syndactyly, Preaxial ...	ORPHA:2211
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Short nose, Sensorineural hearing impairment	OMIM:618379
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Low-set ears, Ulnar deviation of finger, Small hand, Broad femoral neck, Rhizo...	OMIM:611209
Phosphoribosylaminoimidazole Carboxylase Deficiency	Low-set ears, Choanal atresia, Depressed nasal bridge, Bilateral choanal atresia, Anteverted nare...	OMIM:619859
Atelis Syndrome 1	Prominent nose, Glue ear, High palate, Microtia	OMIM:620184
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Goiter, Ovarian thecoma, Nephroblastoma, Multinodular goiter, Embryonal...	OMIM:180295
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Intrauterine growth retardation, Coronal craniosynostosis, Microtia	ORPHA:163976
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Hearing impairment, Macrotia, Low-set, posteriorly rotated ears, Anteverted nares, Brachydactyly,...	ORPHA:2701
Buratti-Harel Syndrome	Low-set ears, Bifid uvula, Broad thumb, Broad hallux, Velopharyngeal insufficiency, Submucous cle...	OMIM:619314
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Hearing impairment, Umbilical hernia, Intrauterine growth retardatio...	OMIM:618651
Tropical Pancreatitis	Pancreatic adenocarcinoma, Chronic calcifying pancreatitis, Pancreatic calcification, Jaundice, A...	ORPHA:103918
Rothmund-Thomson Syndrome Type 1	Neoplasm of the skin, Basal cell carcinoma, Cryptorchidism, Melanoma, Squamous cell carcinoma, Le...	ORPHA:221008
Absent Eyebrows And Eyelashes With Impaired Intellectual Development	Encephalocele, Convex nasal ridge, Short nose	OMIM:200130
Cousin Syndrome	Low-set ears, Hearing impairment, Dislocation of the femoral head, Fibular aplasia, Humeroradial ...	OMIM:260660
Chung-Jansen Syndrome	Large earlobe, Anteverted nares, Short nose, Clinodactyly of the 5th finger, High palate, Macroti...	OMIM:617991
Raine Syndrome	Low-set ears, Natal tooth, Long hallux, Protruding tongue, Neonatal death, Bowing of the long bon...	OMIM:259775
Pfeiffer Syndrome Type 3	Low-set ears, Choanal atresia, Small hand, Broad thumb, Toe syndactyly, Finger syndactyly, Depres...	ORPHA:93260
Fatty Acyl-Coa Reductase 1 Deficiency	Depressed nasal bridge, Short nose, Macrotia	ORPHA:438178
Lowry-Maclean Syndrome	Low-set ears, Choanal atresia, High, narrow palate, Pyloric stenosis, Trigonocephaly, Intrauterin...	ORPHA:2409
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Low-set ears, Macrotia, Intrauterine growth retardation, Brachycephaly, Slender nose, Short nose	OMIM:615419
Holoprosencephaly 9	Choanal atresia, Depressed nasal bridge, Alobar holoprosencephaly, Broad nasal tip, Single naris,...	OMIM:610829
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Eosinophilic infiltration of the esophagus, B-cell lymphoma, Recurrent respira...	OMIM:620532
Cowden Syndrome 7	Trichilemmoma, Goiter, Intestinal polyposis, Ductal carcinoma in situ, Hashimoto thyroiditis, Hem...	OMIM:616858
Nager Syndrome	Aplasia/Hypoplasia of the radius, Hearing impairment, Atresia of the external auditory canal, Low...	ORPHA:245
Retinoblastoma	Uveitis, Pineoblastoma, Glioma, Lymphoma, Ewing sarcoma, Retinoblastoma, Melanoma, Leiomyosarcoma...	ORPHA:790
Meier-Gorlin Syndrome 6	Depressed nasal ridge, Depressed nasal bridge, Conductive hearing impairment, Sandal gap, Underde...	OMIM:616835
Monosomy 22	Gonadal neoplasm, Meningioma, Schwannoma, Hepatosplenomegaly, Aplasia of the thymus, Seborrheic d...	ORPHA:96123
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Low-set ears, Absent thumb, Anotia, Intrauterine growth retardation, Depressed...	OMIM:614083
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Underdeveloped nasal alae, Camptodactyly of finger, Macrotia, Intrauterine growth retardation, Pr...	ORPHA:2083
Au-Kline Syndrome	Bifid nasal tip, Bifid uvula, Plagiocephaly, Underdeveloped nasal alae, Overlapping toe, Prominen...	OMIM:616580
Intellectual Developmental Disorder, Autosomal Dominant 1	Low-set ears, Depressed nasal ridge, Macroglossia, Cupped ear, Sandal gap, Bulbous nose, Prominen...	OMIM:156200
Rothmund-Thomson Syndrome Type 2	Neoplasm of the skin, Basal cell carcinoma, Lymphoma, Cryptorchidism, Melanoma, Squamous cell car...	ORPHA:221016
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Neoplasm, Cutaneous melanoma	OMIM:610651
Trichothiodystrophy	Eczematoid dermatitis, Congenital exfoliative erythroderma, Cryptorchidism, Squamous cell carcino...	ORPHA:33364
Xeroderma Pigmentosum, Complementation Group A	Conjunctivitis, Melanoma, Squamous cell carcinoma of the skin, Keratitis	OMIM:278700
Trigonocephaly 1	Wide nasal bridge, High, narrow palate, Meckel diverticulum, Trigonocephaly, Omphalocele, Cranios...	OMIM:190440
Chondrodysplasia With Joint Dislocations, Gpapp Type	Wide nasal bridge, Coronal craniosynostosis, Short toe, Hearing impairment, Genu valgum, Irregula...	OMIM:614078
Tumor Predisposition Syndrome 2	Meningioma, Juvenile type ovarian granulosa cell tumor, Schwannoma, Ductal carcinoma in situ, Uve...	OMIM:619975
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Opitz-Kaveggia Syndrome	Broad thumb, Clinodactyly, Sensorineural hearing impairment, Anal atresia, Syndactyly, Choanal at...	OMIM:305450
Joubert Syndrome 15	Exencephaly, Preaxial polydactyly	OMIM:614464
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Wide nasal bridge, Crumpled ear, Symphalangism of the thumb, Cupped ear, Short toe, Clinodactyly,...	OMIM:620494
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
46,Xy Sex Reversal 4	Depressed nasal ridge, Recurrent otitis media, Trigonocephaly, Prominent nose, Anteverted nares, ...	OMIM:154230
Pyoderma Gangrenosum	Inflammation of the large intestine, Rheumatoid arthritis, Myositis, Pustule, Myeloid leukemia, M...	ORPHA:48104
Mosaic Variegated Aneuploidy Syndrome	Depressed nasal ridge, Hearing impairment, Colon cancer, Low-set, posteriorly rotated ears, Intra...	ORPHA:1052
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis media, Erythroderma, Chroni...	ORPHA:169160
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Low-set ears, Depressed nasal bridge, Microtia	OMIM:620535
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Oculoauriculovertebral Spectrum With Radial Defects	Conductive hearing impairment, Atresia of the external auditory canal, Preaxial hand polydactyly,...	ORPHA:2549
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Plagiocephaly, Clinodactyly, Hearing imp...	ORPHA:369891
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Low-set ears, Depressed nasal bridge, Intrauterine growth retardation, Metaphyseal dysplasia, Cra...	OMIM:614732
Teebi Hypertelorism Syndrome 2	Depressed nasal bridge, Broad nasal tip, Delayed eruption of teeth, Hearing impairment, Clinodact...	OMIM:619736
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Enlarged metaphyses, Low-set ears, Genu valgum, Talipes equinovarus, Radioulnar synostosis, Broad...	OMIM:245600
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Anteverted nares, Short nose	ORPHA:1355
Microphthalmia With Limb Anomalies	Flared nostrils, Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Talipes equinovarus, 2...	OMIM:206920
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Tuberous Sclerosis 2	Chordoma, Cortical tubers, Cardiac rhabdomyoma, Ependymoma, Pulmonary lymphangiomyomatosis, Renal...	OMIM:613254
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Skin rash	ORPHA:220295
Congenital Neuronal Ceroid Lipofuscinosis	Wide nasal bridge, Low-set ears, Split hand, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Osteosarcoma	OMIM:268400
Ohdo Syndrome, X-Linked	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Clinodactyly, Short thumb, Hearing impai...	OMIM:300895
Aymé-Gripp Syndrome	Low-set ears, Depressed nasal bridge, Plagiocephaly, Stenosis of the external auditory canal, Ing...	ORPHA:1272
Lymphedema-Distichiasis Syndrome	Abnormality of the pulmonary vasculature, Fibrosarcoma, Tubulointerstitial nephritis, Conjunctivi...	ORPHA:33001
Pachydermoperiostosis	Neoplasm of the skin, Eczematoid dermatitis, Osteomyelitis, Splenomegaly, Seborrheic dermatitis, ...	ORPHA:2796
Congenital Disorder Of Deglycosylation 2	Macroglossia, Broad thumb, Sandal gap, Hearing impairment, Hamartoma of tongue, Short columella, ...	OMIM:619775
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Hearing impairment, Tracheoesophageal fistula, Esophageal atresia, Hydrocephalus, Holoprosencephaly	ORPHA:77298
Peutz-Jeghers Syndrome	Gastrointestinal carcinoma, Uterine neoplasm, Bile duct polyp, Ovarian cyst, Biliary tract abnorm...	OMIM:175200
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Clinodactyly, Absent an...	ORPHA:293939
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Low-set ears, Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Clinodactyly of the 5...	OMIM:613443
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Recurrent pneumonia, Hepatosplenomegaly, Fibroma	OMIM:619750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Conductive hearing impairment, Atresia of the external auditory canal, Cleft palate, Microtia	OMIM:300946
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Hearing impairment, Anteverted nares, Prominent nasal bridge, Inguinal hernia, Bra...	OMIM:227330
Maxillonasal Dysplasia	Depressed nasal bridge, Short distal phalanx of finger, Depressed nasal ridge, Short columella, A...	ORPHA:1248
Cerebrooculonasal Syndrome	Low-set ears, Narrow palate, Conductive hearing impairment, Proboscis, Frontal bossing, Anteverte...	OMIM:605627
Alkuraya-Kucinskas Syndrome	Low-set ears, Hand clenching, Depressed nasal bridge, Plagiocephaly, Clinodactyly, Overlapping to...	OMIM:617822
Non-Distal Duplication 13Q	Aplasia/Hypoplasia of the earlobes, Trigonocephaly, Abnormal antihelix morphology, Arachnodactyly...	ORPHA:1702
Bazex-Dupre-Christol Syndrome	Atopic dermatitis, Eczematoid dermatitis, Acne inversa, Basal cell carcinoma, Trichoepithelioma	OMIM:301845
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Sensorineural hearing impairment, Abnormal metacar...	ORPHA:818
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Depressed nasal bridge, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma o...	OMIM:617925
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Wide nasal bridge, Low-set ears, Flared metaphysis, Large fleshy ears, Decreased fibular diameter...	OMIM:616897
3C Syndrome	Wide nasal bridge, Depressed nasal bridge, Low-set ears, High, narrow palate, Finger syndactyly, ...	ORPHA:7
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Low-set ears, Depressed nasal bridge, Hearing impairment, Finger clinodactyly, Brachycephaly, Cle...	OMIM:601353
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Abnormality of the outer ear, Hearing impairment, Atresia of the external auditory canal, Aplasia...	ORPHA:3186
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Microtia	OMIM:168550
Facial Paresis, Hereditary Congenital, 3	Low-set ears, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, High pa...	OMIM:614744
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Wide nasal bridge, Recurrent otitis media, Anteverted nares, Posteriorly rotated ears, Microtia	OMIM:602562
Trisomy 12P	Wide nasal bridge, Low-set ears, Abnormal antihelix morphology, Turricephaly, Large hands, Clinod...	ORPHA:1699
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Plagiocephaly, Hearing impairment, Intrauterine growth retardation, Coxa ...	OMIM:619833
Vacterl With Hydrocephalus	Abnormality of the outer ear, Microtia, third degree, Anotia, Intrauterine growth retardation, In...	ORPHA:3412
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Bifid uvula, Stenosis of the external auditory canal, Sensorineural hearing impairment, Mixed hea...	OMIM:606164
Grfoma	Intrahepatic cholestasis, Cholelithiasis, Pituitary adenoma, Adrenocortical adenoma, Subcutaneous...	ORPHA:97261
Odontochondrodysplasia	Depressed nasal bridge, Micromelia, Delayed eruption of teeth, Frontal bossing, Death in infancy,...	ORPHA:166272
Kagami-Ogata Syndrome	Depressed nasal bridge, Anteverted nares, Inguinal hernia, Limb undergrowth, Long fingers, Omphal...	OMIM:608149
Holoprosencephaly 13, X-Linked	Low-set ears, Alobar holoprosencephaly, Semilobar holoprosencephaly, Hearing impairment, Median c...	OMIM:301043
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Wide nasal bridge, Depressed nasal bridge, Rhizo-meso-acromelic limb shortening, Anteverted nares...	ORPHA:163654
Frontofacionasal Dysplasia	Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, Encephalocele, B...	ORPHA:1791
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Short distal phalanx of finger, Broad nasal tip, Plagiocephaly, Short toe, Hea...	OMIM:239300
Saethre-Chotzen Syndrome	Partial duplication of the distal phalanx of the 3rd finger, Low-set ears, Lambdoidal craniosynos...	OMIM:101400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Low-set ears, Encephalocele, Death in infancy, Death in childhood, Hydrocephalus, Adducted thumb,...	OMIM:614643
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Short distal phalanx of finger, Depressed nasal bridge, Delayed eruption of teeth, ...	OMIM:615866
Glutamine Deficiency, Congenital	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Micromelia, Anteverted nares, Neonatal d...	OMIM:610015
Chromosome 16P13.3 Duplication Syndrome	Low-set ears, Macrotia, Wide nose, Short nose, Short toe, Bulbous nose, Inguinal hernia, Protrudi...	OMIM:613458
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Microtia	OMIM:620137
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Wide nasal bridge, Broad nasal tip, Large earlobe, Shortening of all distal phalanges of the fing...	OMIM:615716
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Skull asymmetry, Anteverted nares, Turricephaly, Brachycephaly, Craniosynostosis, H...	OMIM:601853
Antley-Bixler Syndrome	Choanal atresia, Camptodactyly of finger, Low-set, posteriorly rotated ears, Anteverted nares, Fe...	ORPHA:83
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Wide nasal bridge, Depressed nasal bridge, Low-set ears, Large earlobe, Intestinal malrotation, O...	OMIM:618316
Congenital Erythropoietic Porphyria	Seborrhoeic blepharitis, Neoplasm of the skin, Splenomegaly, Scleritis, Keratoconjunctivitis, Squ...	ORPHA:79277
Netherton Syndrome	Allergic rhinitis, Eczematoid dermatitis, Chronic rhinitis, Erythroderma, Recurrent respiratory i...	OMIM:256500
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Microtia, Esophageal stenosis, Neonatal death	OMIM:619817
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Short hallux, Dislocated radial head, Short nose, Abn...	OMIM:311300
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Aqueductal ste...	ORPHA:138
Desmosterolosis	Low-set ears, Depressed nasal bridge, Bifid uvula, Micromelia, Abnormality of the nose, Abnormal ...	ORPHA:35107
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Conductive hearing impairment, Sandal gap, Short toe, Short 5th metacarpal, Antever...	OMIM:617877
Phocomelia, Schinzel Type	Finger aplasia, High, narrow palate, Radial bowing, Micromelia, Ectrodactyly, Abnormal tibia morp...	ORPHA:2879
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Low-set ears, Depressed nasal bridge, Plagiocephaly, Sandal gap, Frontal bossing, Bulbous nose, B...	OMIM:618430
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Ulnar deviation of finger, Aplasia/Hypoplasia invo...	ORPHA:1529
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Monosomy 9P	Low-set ears, Choanal atresia, Depressed nasal bridge, Atresia of the external auditory canal, An...	ORPHA:261112
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Hearing impairment, Bulbous nose, Prominent nasal bridge, Brachycephaly, ...	OMIM:618828
Hypomandibular Faciocranial Dysostosis	Low-set ears, Bifid uvula, Aplasia/Hypoplasia of the tongue, Trigonocephaly, Anteverted nares, De...	ORPHA:1790
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Broad thumb, Radial bowing, Atresia of the external auditory canal, ...	ORPHA:672
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Cupped ear, Interphalangeal thumb joint contracture, Bulbous nose, Prominent nasal bridge, Agangl...	OMIM:613870
Townes-Brocks Syndrome 1	Broad thumb, Pseudoepiphyses of second metacarpal, Lop ear, Sensorineural hearing impairment, Rec...	OMIM:107480
Acromicric Dysplasia	Small hand, Fifth metacarpal with ulnar notch, Bulbous nose, Anteverted nares, Abnormal femur mor...	ORPHA:969
Achondrogenesis	Micromelia, Umbilical hernia, Anteverted nares, Inguinal hernia, Frontal bossing, Short nose	ORPHA:932
Fetal Hydantoin Syndrome	Short distal phalanx of finger, Depressed nasal ridge, Low-set, posteriorly rotated ears, Intraut...	ORPHA:1912
Otopalatodigital Syndrome Type 2	Low-set ears, Synostosis of carpal bones, Hearing impairment, Carpal synostosis, Fibular aplasia,...	ORPHA:90652
Dermotrichic Syndrome	Depressed nasal bridge, Macrotia, Aganglionic megacolon, Frontal bossing, Short nose	ORPHA:99688
Auriculocondylar Syndrome	Abnormality of the crus of the helix, Bifid uvula, Microglossia, Hearing impairment, Question mar...	ORPHA:137888
Pde4D Haploinsufficiency Syndrome	Hearing impairment, Prominent nasal tip, Broad phalanx, Bilateral coxa valga, Short metacarpal, S...	ORPHA:439822
Periventricular Nodular Heterotopia 7	1-4 toe syndactyly, Contracture of the proximal interphalangeal joint of the 2nd finger, Antevert...	OMIM:617201
Atelosteogenesis, Type I	Low-set ears, Radial bowing, Fibular aplasia, Encephalocele, Neonatal death, Talipes equinovarus,...	OMIM:108720
Meier-Gorlin Syndrome 2	Underdeveloped nasal alae, Intrauterine growth retardation, Patellar aplasia, Camptodactyly, Doli...	OMIM:613800
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Oligoarthritis, Erythroderma, Recurrent respiratory infections, Pulmonary ...	OMIM:619510
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Natal tooth, Branchial cyst, Clinodactyly, Atresia of the external auditory canal, ...	OMIM:620186
Acrodysostosis	Hearing impairment, Bowing of the long bones, Abnormal metacarpal morphology, Abnormal morphology...	ORPHA:950
Recon Progeroid Syndrome	Underdeveloped nasal alae, Anteverted nares, Prominent nasal bridge, Long thumb, Arachnodactyly, ...	OMIM:620370
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Finger syndactyly, Atresia of the external auditory...	ORPHA:2052
16P11.2P12.2 Microdeletion Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Camptodactyly of finger, Frontal bossing, Bulbo...	ORPHA:261211
Hyperparathyroidism-Jaw Tumor Syndrome	Renal hamartoma, Pancreatic adenocarcinoma, Abnormal parathyroid morphology, Thyroid carcinoma, N...	ORPHA:99880
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Short 5th finger, Toe clinodactyly, Choanal atresia, Underdeveloped nasal alae, Bulbous tips of t...	ORPHA:163979
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Wide nasal bridge, Low-set ears, Plagiocephaly, Broad columella, Overlapping toe, Narrow nasal br...	OMIM:619383
Multiple Endocrine Neoplasia Type 4	Pituitary prolactin cell adenoma, Pituitary null cell adenoma, Esophagitis, Renal angiomyolipoma,...	ORPHA:276152
Dyskeratosis Congenita, Digenic	Basal cell carcinoma, Melanoma, Squamous cell carcinoma of the skin, Decreased testicular size	OMIM:620040
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Wide nasal bridge, Macrotia, 2-3 toe syndactyly, Brachycephaly, Long fingers, High palate, Short ...	OMIM:218000
Scalp-Ear-Nipple Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Calvarial skull defect, Prot...	OMIM:181270
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Neurofibromatosis Type 1	Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom...	ORPHA:636
Ichthyosis Prematurity Syndrome	Allergic rhinitis, Pruritus, Erythroderma	OMIM:608649
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Bilateral cryptorchidism	OMIM:618840
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Radial bowing, ...	OMIM:268310
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Paganini-Miozzo Syndrome	Low-set ears, Posteriorly rotated ears, Microtia	OMIM:301025
Treacher Collins Syndrome 3	Conductive hearing impairment, Cleft palate, Microtia	OMIM:248390
Distal Deletion 10Q	Low-set ears, Abnormality of the outer ear, Clinodactyly, Anal atresia, High palate, Short nose, ...	ORPHA:96148
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Elevated circulating hepatic transaminase concentration, Decreased liv...	ORPHA:540
Van Maldergem Syndrome 2	Wide nasal bridge, Depressed nasal bridge, Cutaneous syndactyly of toes, Conductive hearing impai...	OMIM:615546
Congenital Ichthyosiform Erythroderma	Pruritus, Keratitis, Erythroderma	ORPHA:79394
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Slender finger, Depressed nasal bridge, Hemiatrophy of upper limb, Frontal bossing, Anteverted na...	ORPHA:163649
Parathyroid Carcinoma	Renal hamartoma, Parathyroid carcinoma, Pancreatic adenocarcinoma, Abnormal parathyroid morpholog...	ORPHA:143
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Low-set ears, Depressed nasal bridge, Radial deviation of finger, Clinodactyly, Umbilical hernia,...	OMIM:301040
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2

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