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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		Short nose, Anteverted nares, Clinodactyly of the 5th finger, Omphalocele	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	Squamous cell carcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Sarcoma, Pancreatic ade...	OMIM:606719
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Squamous cell carcinoma, Perifolliculitis, Chronic furunculosis, Recurrent cutaneous abscess form...	OMIM:613736
Tumor Predisposition Syndrome 1	Malignant mesothelioma, Uveal melanoma, Renal cell carcinoma, Meningioma, Lung adenocarcinoma, Cu...	OMIM:614327
Reticulum Cell Sarcoma	Sarcoma, Neoplasm	OMIM:267730
Tumor Predisposition Syndrome 4	Stomach cancer, Glioma, Sarcoma, Meningioma, Breast carcinoma	OMIM:609265
Disseminated Superficial Actinic Porokeratosis	Pruritus, Squamous cell carcinoma	ORPHA:79152
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Epidermodysplasia Verruciformis, Susceptibility To, 3	Verrucae, Basal cell carcinoma, Squamous cell carcinoma	OMIM:618267
Colorectal Cancer, Susceptibility To, 12	Carcinoma, Colorectal polyposis	OMIM:615083
Li-Fraumeni Syndrome	Acute leukemia, Prostate neoplasm, Neoplasm of the pancreas, Soft tissue sarcoma, Choriocarcinoma...	OMIM:151623
Nut Midline Carcinoma	Pancreatic squamous cell carcinoma, Squamous cell carcinoma, Oropharyngeal squamous cell carcinom...	ORPHA:443167
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Cheilitis Glandularis	Abnormal salivary gland morphology, Squamous cell carcinoma, Neoplasm	ORPHA:1221
Hyperkeratosis Lenticularis Perstans	Basal cell carcinoma, Pruritus, Squamous cell carcinoma	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, Chondrosarcoma, Multiple enchondromatosis	OMIM:166000
Epidermodysplasia Verruciformis	Squamous cell carcinoma, Seborrheic dermatitis, Verrucae, Pustule, Recurrent skin infections	ORPHA:302
Combined Immunodeficiency Due To Dock8 Deficiency	Chronic otitis media, Squamous cell carcinoma of the vulva, Squamous cell carcinoma, Recurrent ba...	ORPHA:217390
Acquired Ichthyosis	Lymphoma, Multiple myeloma, Sarcoma, Neoplasm, Recurrent skin infections, Pruritus	ORPHA:454
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Basal cell carcinoma, Pancreatic adenocarcinoma, Neoplasm of the rectum, Squamous cell carcinoma,...	ORPHA:454840
Xeroderma Pigmentosum Variant	Basal cell carcinoma, Keratitis, Squamous cell carcinoma, Melanoma	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, Chondrosarcoma, Multiple enchondromatosis	OMIM:614569
Schöpf-Schulz-Passarge Syndrome	Basal cell carcinoma, Ovarian neoplasm, Squamous cell carcinoma	ORPHA:50944
Desmoid Disease, Hereditary	Desmoid tumors, Colon cancer, Breast carcinoma, Colorectal polyposis	OMIM:135290
Holoprosencephaly 5	Semilobar holoprosencephaly, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Syntelenc...	OMIM:609637
Verrucous Hemangioma	Hemangioma, Inflammatory abnormality of the skin, Papilloma	ORPHA:464318
Serrated Polyposis Syndrome	Ovarian neoplasm, Pancreatic adenocarcinoma, Germ cell neoplasia, Colorectal polyposis, Breast ca...	ORPHA:157798
Craniofacial Microsomia 2	Microtia, Microtia, third degree, Microtia, second degree, Dermal sinus tract, Submucous cleft pa...	OMIM:620444
Ichthyosis, Hystrix-Like, With Deafness	Erythroderma, Punctate keratitis, Squamous cell carcinoma	OMIM:602540
Paget Disease, Extramammary	Eczematoid dermatitis, Neoplasm	OMIM:167300
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Ovarian neoplasm, Primary peritoneal carcinoma, Melanoma, Prostate canc...	ORPHA:145
Oral Submucous Fibrosis	Cheilitis, Oropharyngeal squamous cell carcinoma	ORPHA:357154
Bazex Syndrome	Liposarcoma, Lung adenocarcinoma, Pruritus, Neoplasm	ORPHA:166113
Li-Fraumeni Syndrome	Rhabdomyosarcoma, Neoplasm of the pancreas, Neoplasm of the larynx, Choriocarcinoma, Hodgkin lymp...	ORPHA:524
Epidermodysplasia Verruciformis, Susceptibility To, 2	Squamous cell carcinoma of the skin, Verruca plana	OMIM:618231
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Sarcoma, Osteoarthritis	ORPHA:2762
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	T-cell lymphoma, Elevated circulating hepatic transaminase concentration, Acute myeloid leukemia,...	ORPHA:158057
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Squamous cell carcinoma	ORPHA:542592
Schopf-Schulz-Passarge Syndrome	Apocrine hidrocystoma, Poroma, Basal cell carcinoma, Squamous cell carcinoma	OMIM:224750
Paraneoplastic Pemphigus	B-cell lymphoma, Sarcoma, Thymoma	ORPHA:63455
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Neoplasm of the skin, Sarcoma, Pruritus, Neoplasm, Cutaneous melanoma	ORPHA:626
Acalvaria	Hydrocephalus, Postaxial hand polydactyly, Omphalocele, Spina bifida, Cleft palate, Holoprosencep...	ORPHA:945
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Actinic keratosis, Eczematoid dermatitis, Pruritus, Erythroderma, A...	ORPHA:330064
Punctate Palmoplantar Keratoderma Type 1	Esophageal neoplasm, Basal cell carcinoma, Squamous cell carcinoma, Stomach cancer, Renal cell ca...	ORPHA:79501
Hartsfield Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Split hand, Lobar holoprosencephaly, Cleft pala...	ORPHA:2117
Maffucci Syndrome	Neoplasm of the parathyroid gland, Hemangiomatosis, Ovarian neoplasm, Neoplasm of the adrenal cor...	ORPHA:163634
Pityriasis Rubra Pilaris	Eczematoid dermatitis, Pustule, Neoplasm, Erythroderma, Pruritus	ORPHA:2897
Xeroderma Pigmentosum, Complementation Group F	Keratoacanthoma, Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Seborrheic ...	OMIM:278760
Xeroderma Pigmentosum, Variant Type	Basal cell carcinoma, Squamous cell carcinoma, Keratitis, Conjunctivitis, Cutaneous melanoma	OMIM:278750
Ollier Disease	Hemangioma, Chondrosarcoma, Sarcoma, Neoplasm, Multiple enchondromatosis, Visceral angiomatosis	ORPHA:296
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Pulmonary pneumatocele, Recurrent otitis media, Squamous cell carcinoma, Sclerosing cholangitis, ...	OMIM:243700
Familial Adenomatous Polyposis 3	Basal cell carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Prostate cancer, Bladder neopl...	OMIM:616415
Mast Cell Sarcoma	Sarcoma, Hepatomegaly, Splenomegaly	ORPHA:66661
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Chronic rhinitis, Squamous cell carcinoma	OMIM:615225
Papillon-Lefèvre Syndrome	Liver abscess, Severe periodontitis, Squamous cell carcinoma, Periodontitis, Neoplasm of the skin...	ORPHA:678
Recurrent Respiratory Papillomatosis	Atelectasis, Squamous cell carcinoma, Abnormal lung morphology, Recurrent pneumonia, Recurrent up...	ORPHA:60032
Liposarcoma	Sarcoma	ORPHA:69078
Conductive Deafness-Malformed External Ear Syndrome	Stenosis of the external auditory canal, Abnormal pinna morphology, Sensorineural hearing impairm...	ORPHA:3216
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Cutaneous Neuroendocrine Carcinoma	Basal cell carcinoma, Merkel cell skin cancer, Squamous cell carcinoma of the skin, Brain neoplas...	ORPHA:79140
Immunodeficiency 51	Chronic oral candidiasis, Recurrent otitis media, Recurrent bronchitis, Chronic mucocutaneous can...	OMIM:613953
Familial Melanoma	Neoplasm of the breast, Neoplasm of the stomach, Neoplasm of the pancreas, Melanoma	ORPHA:618
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Insulinoma Tumor Suppressor Gene Locus	Insulinoma	OMIM:606960
Vitamin K Antagonist Embryofetopathy	Short nose, Hydrocephalus, Anteverted nares, Microtia, Choanal atresia, Myelomeningocele, Hearing...	ORPHA:1914
Asbestos Intoxication	Abnormal pulmonary interstitial morphology, Pleural thickening, Malignant mesothelioma, Atelectas...	ORPHA:2302
Infantile Myofibromatosis	Fibroma, Neoplasm of the pancreas, Gingival fibromatosis, Neoplasm of the skin, Neoplasm of the l...	ORPHA:2591
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Desmoplastic Small Round Cell Tumor	Neoplasm of the central nervous system, Hepatomegaly, Neoplasm of the pancreas, Ovarian neoplasm,...	ORPHA:83469
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Lipoma, Odontoma, Desmoid tumors, Fibroadenoma of the breast, Duodenal ...	ORPHA:247806
Hyperparathyroidism 2 With Jaw Tumors	Parathyroid carcinoma, Renal cortical adenoma, Pancreatic adenocarcinoma, Papillary renal cell ca...	OMIM:145001
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Anteverted nares, Microtia, Ectopic anus, High palate, Camptod...	ORPHA:1703
Epidermodysplasia Verruciformis, Susceptibility To, 5	Verrucae, Squamous cell carcinoma of the skin	OMIM:618309
Yellow Nail Syndrome	Renal neoplasm, Pleuritis, Neoplasm of the lung, Sinusitis, Sarcoma, Biliary tract neoplasm, Rhin...	ORPHA:662
Aminopterin/Methotrexate Embryofetopathy	Anencephaly, Encephalocele, Meningocele, Hydrocephalus, Aplasia/Hypoplasia of the thumb, Finger s...	ORPHA:1908
Craniosynostosis, Herrmann-Opitz Type	Brachycephaly, Short nose, Convex nasal ridge, Turricephaly, Finger syndactyly, Abnormal antiheli...	ORPHA:2145
Distal Monosomy 7Q36	Clinodactyly of the 5th finger, Abnormal calvaria morphology, Macrotia, Cleft palate, Holoprosenc...	ORPHA:1636
Multiple Endocrine Neoplasia, Type Iv	Pancreatic endocrine tumor, Carcinoma, Primary hyperparathyroidism, Hashimoto thyroiditis, Carcin...	OMIM:610755
Gcgr-Related Hyperglucagonemia	Glucagonoma, Neoplasm of the pancreas, Cholelithiasis, Abnormal biliary tract morphology	ORPHA:438274
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Neoplasm of the pancreas, Ovarian neoplasm, Endomet...	OMIM:614350
Chromosome 3Q13.31 Deletion Syndrome	Brachycephaly, Plagiocephaly, Proximal placement of thumb, Alobar holoprosencephaly, High palate,...	OMIM:615433
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma	OMIM:614564
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Brachycephaly, Short nose, Turricephaly, Craniosynostosis, Hydrocephalus, Anteverted nares, Micro...	ORPHA:171839
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Anterior encephalocele, Bilateral cleft palate, Low-set ears, Omphalocele, Holoprosencephaly, Foo...	OMIM:601357
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Acrocephalopolydactyly	Short nose, Microtia, Depressed nasal ridge, Limb undergrowth, Brachydactyly, Oxycephaly	ORPHA:221054
Bullous Diffuse Cutaneous Mastocytosis	Erythroderma, Cutaneous mastocytosis, Pruritus	ORPHA:280785
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Microtia, Congenital pyloric atresia, Neonatal death, Underdeveloped nasal alae	OMIM:612138
Familial Adenomatous Polyposis 1	Fibroma, Osteoma, Duodenal polyposis, Adrenocortical adenoma, Adenomatous colonic polyposis, Carc...	OMIM:175100
Camptodactyly Syndrome, Guadalajara Type 1	Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Attached earlobe, Microtia, Antever...	ORPHA:1327
Isotretinoin Syndrome	Spina bifida occulta, Microtia, Biparietal narrowing, Cleft palate, Abnormality of the outer ear,...	ORPHA:2305
Gastrointestinal Stromal Tumor	Esophageal neoplasm, Neoplasm of the stomach, Neoplasm of the rectum, Neoplasm of the small intes...	ORPHA:44890
Werner Syndrome	Neoplasm of the oral cavity, Thyroid carcinoma, Renal neoplasm, Ovarian neoplasm, Aplasia/Hypopla...	ORPHA:902
Gardner Syndrome	Neoplasm of the pancreas, Lipoma, Odontoma, Ampulla of Vater carcinoma, Desmoid tumors, Multiple ...	ORPHA:79665
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Clinodactyly of the 5th finger, Joint contracture of the 5th finger, Microtia, High palate, Condu...	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	Short nose, Abnormal middle ear morphology, Abnormal antihelix morphology, Microtia, Underdevelop...	ORPHA:79113
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Holoprosencephaly, Tapered finger	OMIM:619033
Genitourinary And/Or Brain Malformation Syndrome	Ileal atresia, Short nose, Low-set ears, Omphalocele, Aplasia of the nasal bone, Acrania, Holopro...	OMIM:618820
Lambotte Syndrome	Semilobar holoprosencephaly, Atresia of the external auditory canal, Macrotia, Intrauterine growt...	OMIM:245552
Monosomy 18P	Brachycephaly, Abnormal antihelix morphology, Macrotia, Cleft palate, Holoprosencephaly, Brachyda...	ORPHA:1598
Thanatophoric Dysplasia Type 2	Abnormal metaphysis morphology, Encephalocele, Hydrocephalus, Cloverleaf skull, Micromelia, Heari...	ORPHA:93274
Exostoses, Multiple, Type Ii	Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses	OMIM:133701
Exostoses, Multiple, Type I	Rib exostoses, Scapular exostoses, Chondrosarcoma, Pelvic bone exostoses, Multiple exostoses	OMIM:133700
Chromomycosis	Squamous cell carcinoma, Abnormal lung morphology, Keratitis, Pruritus, Multiple cutaneous malign...	ORPHA:182
Microtia	Hypoplastic helices, Unilateral conductive hearing impairment, Microtia, Abnormal pinna morpholog...	ORPHA:83463
Chromosome 1Q41-Q42 Deletion Syndrome	Sandal gap, Anteverted nares, Microtia, Low-set ears, High palate, Trigonocephaly, Frontal bossin...	OMIM:612530
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Holoprosencephaly 7	Bilateral cleft palate, Cranial asymmetry, Hydrocephalus, Hypoplastic nasal septum, Depressed nas...	OMIM:610828
Attenuated Familial Adenomatous Polyposis	Fibroma, Neoplasm of the stomach, Colorectal polyposis, Rectal polyposis, Adenocarcinoma of the c...	ORPHA:220460
Rhabdoid Tumor	Neoplasm of the central nervous system, Neoplasm of the liver, Renal neoplasm, Sarcoma	ORPHA:69077
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Short nose, Anteverted nares, Cleft palate, Low-set, posteriorly rotated ears	ORPHA:2015
Ring Chromosome 8 Syndrome	Short nose, Anteverted nares, Round ear, Deviation of finger, Frontal bossing	ORPHA:1450
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Hydranencephaly, Low-set ears, Camptodactyly of finger, Holoprosencephaly, Intrauterine growth re...	ORPHA:2570
Sézary Syndrome	Hepatomegaly, Neoplasm of the skin, Lymphoma, Splenomegaly, Abnormal pleura morphology, Erythrode...	ORPHA:3162
Catifa Syndrome	Inguinal hernia, Delayed eruption of teeth, Anteverted nares, Microtia, Camptodactyly, Cleft palate	OMIM:618761
Agnathia-Otocephaly Complex	Wide nose, Synotia, Low-set ears, Conductive hearing impairment, Cleft palate, Holoprosencephaly,...	OMIM:202650
Pemphigus Foliaceus	Neoplasm of the skin, Pustule, Hematological neoplasm, Erythroderma, Psoriasiform dermatitis, Cru...	ORPHA:79481
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Chilblain Lupus	Malar rash, Skin rash, Discoid lupus rash, Inflammatory abnormality of the skin, Chronic myelomon...	ORPHA:90280
Familial Adenomatous Polyposis	Lipoma, Odontoma, Pituitary adenoma, Desmoid tumors, Neoplasm of the gastrointestinal tract, Duod...	ORPHA:733
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Microtia, Bifid nasal tip, Conductive hearing impairment, Cleft palate,...	ORPHA:398156
Triploidy	Low-set, posteriorly rotated ears, Meningocele, Hydrocephalus, Finger syndactyly, Omphalocele, In...	ORPHA:3376
17Q21.31 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Sandal gap, Anteverted nares, High palate, Abnormalit...	ORPHA:217340
Mycosis Fungoides	Neoplasm of the skin, Lymphoma, Eczematoid dermatitis, Psoriasiform dermatitis, Pruritus	OMIM:254400
1Q41Q42 Microdeletion Syndrome	Underdeveloped nasal alae, Frontal bossing, Cleft palate, Holoprosencephaly, Broad nasal tip, Dep...	ORPHA:250999
Adenylosuccinate Lyase Deficiency	Brachycephaly, Short nose, Anteverted nares, Low-set ears, Flat occiput	ORPHA:46
Microcephaly 6, Primary, Autosomal Recessive	Microtia, Bifid nasal tip	OMIM:608393
Non-Distal Duplication 10Q	Brachycephaly, Short nose, Low-set, posteriorly rotated ears, High palate, Frontal bossing, Conve...	ORPHA:1695
Kid Syndrome	Trichilemmoma, Squamous cell carcinoma, Neoplasm of the tongue, Neoplasm of the skin, Arthritis, ...	ORPHA:477
Ovarian Fibrothecoma	Fibrosarcoma, Ovarian fibroma, Pleural effusion, Abnormality of the ovary, Peritonitis, Diffuse l...	ORPHA:314478
Pancreatic Agenesis-Holoprosencephaly Syndrome	Semilobar holoprosencephaly, Prominent occiput, Abnormal pinna morphology, Low-set ears, High pal...	ORPHA:556955
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Tapered finger	OMIM:300706
Basal Cell Nevus Syndrome 2	Basal cell carcinoma, Medulloblastoma, Meningioma, Neurofibroma, Angiofibromas	OMIM:620343
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, ...	OMIM:614701
Nabais Sa-De Vries Syndrome, Type 2	Clinodactyly of the 5th finger, Bilateral cleft palate, Microtia, Anteverted nares, Low-set ears,...	OMIM:618829
Milroy Disease	Erysipelas, Angiosarcoma, Neoplasm of the skin, Hydrocele testis	ORPHA:79452
17P13.3 Microduplication Syndrome	Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Wide nose, Low-set ears, High palate...	ORPHA:217385
Cebalid Syndrome	Brachycephaly, Plagiocephaly, Short nose, Turricephaly, Anteverted nares, Abnormal pinna morpholo...	OMIM:618774
Beta-Mercaptolactate Cysteine Disulfiduria	Genu valgum, Low-set, posteriorly rotated ears, Sandal gap, Anteverted nares, High palate, Microm...	ORPHA:1035
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Triphalangeal thumb, Low-set, posteriorly rotated ears, Finger syndactyly, Microtia, Ectopic anus...	ORPHA:2994
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Keratoconjunctivitis sicca, Recurrent bacterial skin infections, Squamous cell carcinoma	OMIM:148210
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Synotia, Holoprosencephaly, Microglossia, Absent nares, Aplasi...	ORPHA:990
Lethal Osteosclerotic Bone Dysplasia	Short nose, Anteverted nares, Low-set ears, Median cleft palate, Depressed nasal ridge, Posterior...	ORPHA:1832
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Xeroderma Pigmentosum, Complementation Group E	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma, Keratitis, Conjunctivitis	OMIM:278740
Peutz-Jeghers Syndrome	Esophageal neoplasm, Abnormality of the gallbladder, Pancreatic adenocarcinoma, Neoplasm of the r...	ORPHA:2869
Distal Deletion 9P	Short nose, High, narrow palate, Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the ear...	ORPHA:1642
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydrocephalus, Holoprosencephaly, Hydranencephaly	OMIM:617967
Even-Plus Syndrome	Brachycephaly, Short nose, Microtia, Bifid nasal tip, High palate, Anal atresia, Depressed nasal ...	OMIM:616854
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Microtia, Low-set ears, Thick nasal alae, Flat occiput, Clinod...	ORPHA:357175
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Squamous cell carcinoma, Conjunctivitis	OMIM:226600
Zechi-Ceide Syndrome	Abnormal earlobe morphology, Short metatarsal, Sandal gap, Wide nose, Stenosis of the external au...	ORPHA:217017
Meier-Gorlin Syndrome 8	Intrauterine growth retardation, Microtia, Low-set ears	OMIM:617564
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Lymphoma, Acute myeloid leukemia, Myelodysplasia, Eczematoid dermatitis	OMIM:616871
Birt-Hogg-Dube Syndrome 1	Renal neoplasm, Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Trichodiscom...	OMIM:135150
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Chronic pancreatitis, Pancreatic calcification	OMIM:608189
Autosomal Dominant Epidermolytic Ichthyosis	Erythroderma, Conjunctival hamartoma	ORPHA:312
Desmoid Tumor	Fibroma, Neoplasm of the skin, Intestinal polyposis, Desmoid tumors	ORPHA:873
Sweeney-Cox Syndrome	Microtia, Short distal phalanx of finger, Choanal atresia, Hearing impairment, Broad nasal tip, F...	OMIM:617746
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Rhizomelia, Hydrocephalus, Metaphyseal cupping, Hypoplasia of the calcaneus, Low-set ...	OMIM:300863
Holoprosencephaly-Caudal Dysgenesis Syndrome	Radial club hand, Low-set ears, Cleft palate, Holoprosencephaly, Abnormal morphology of the radius	ORPHA:2165
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Microtia, Low-set ears, Thick nasal alae, Flat occiput, Clinod...	OMIM:615162
Coxoauricular Syndrome	Hearing impairment, Microtia	OMIM:122780
Parenti-Mignot Neurodevelopmental Syndrome	Microtia, Prominent nasal tip, Low-set ears, Frontal bossing, Posteriorly rotated ears, Prominent...	OMIM:619873
Legius Syndrome	Ovarian neoplasm, Acute monocytic leukemia, Non-small cell lung carcinoma, Desmoid tumors, Nephro...	ORPHA:137605
Pallister-Hall Syndrome	Microtia, Oligodactyly, Shortening of all distal phalanges of the fingers, Mesomelia, Syndactyly,...	OMIM:146510
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Short nose, Recurrent otitis media, Anteverted nares, Low-set ears, Glossoptosis, Camptodactyly, ...	OMIM:613604
Wilson-Turner Syndrome	Microtia, Tapered finger, Broad nasal tip, Short foot, Small hand	ORPHA:3459
Pfeiffer Syndrome Type 1	Brachycephaly, Aqueductal stenosis, Short nose, Aplasia/Hypoplasia of the thumb, Short hallux, Fi...	ORPHA:93258
Clark-Baraitser Syndrome	Brachycephaly, Short nose, Sandal gap, Low hanging columella, Anteverted nares, High palate, Low-...	OMIM:617752
Intellectual Developmental Disorder, X-Linked 91	Short nose, High palate, Short foot, Short 5th finger, Clinodactyly, Small hand	OMIM:300577
Opsoclonus-Myoclonus Syndrome	Small cell lung carcinoma, Neoplasm of the lung, Ovarian teratoma, Melanoma, Neuroblastoma, Breas...	ORPHA:1183
Xeroderma Pigmentosum, Complementation Group C	Basal cell carcinoma, Actinic keratosis, Squamous cell carcinoma of the skin, Keratitis, Conjunct...	OMIM:278720
Iniencephaly	Rocker bottom foot, Rhizomelia, Anencephaly, Encephalocele, Hydrocephalus, Low-set ears, Myelomen...	ORPHA:63259
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microtia, Camptodactyly of finger, Frontal bossing, Duodenal stenosis, Symphalangism ...	ORPHA:2547
Short-Rib Thoracic Dysplasia 12	Anencephaly, Abnormal pinna morphology, Intestinal malrotation, Intrauterine growth retardation, ...	OMIM:269860
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Rhizomelia, Hydrocephalus, Abnormality of the calcaneus, Low-set ears, Depressed nasa...	ORPHA:163966
Microtia-Anotia	Microtia, Holoprosencephaly, Anotia	OMIM:600674
Trichothiodystrophy 1, Photosensitive	Erythroderma, Basal cell carcinoma, Keratoconjunctivitis sicca, Squamous cell carcinoma	OMIM:601675
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Microtia, Biparietal narrowing, Broad thumb, Atresia of the ex...	ORPHA:1770
Adrenocortical Carcinoma	Adrenocortical carcinoma, Lung adenocarcinoma, Adrenocorticotropic hormone deficiency	ORPHA:1501
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Emphysema, Squamous cell carcinoma of the skin, Portal hypertension, Pulmonary fibrosis, Cryptorc...	OMIM:620365
Disabling Pansclerotic Morphea Of Childhood	Squamous cell carcinoma of the skin	OMIM:620443
Trisomy 18	Narrow palate, Short nose, Anencephaly, Low-set, posteriorly rotated ears, Esophageal atresia, Pr...	ORPHA:3380
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
6Q16 Microdeletion Syndrome	Anteverted nares, Microtia, Low-set ears, Abnormal ear morphology, Bulbous nose, Tapered finger, ...	ORPHA:171829
Familial Reactive Perforating Collagenosis	Maculopapular exanthema, Perifolliculitis, Inflammatory abnormality of the skin, Crusting erythem...	ORPHA:79147
16P13.11 Microdeletion Syndrome	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Atresia of the exte...	ORPHA:261236
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Short nose, Death in childhood, Wide distal femoral metaphysis, Wide nose, Metaphyseal cupping, A...	OMIM:613320
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Sandal gap, Microtia, Tapered finger, Low-set ears, Clinodactyly, Bifid uvula, Pos...	OMIM:618089
Bloom Syndrome	Squamous cell carcinoma, Malar rash, Lymphoma, Recurrent upper respiratory tract infections, Bron...	OMIM:210900
Endocrine-Cerebroosteodysplasia	Preaxial polydactyly, Fibular bowing, Sandal gap, Hitchhiker thumb, Hydrocephalus, Tibial bowing,...	OMIM:612651
Distal Deletion 13Q	Anencephaly, Encephalocele, Aplasia/Hypoplasia of the thumb, Abnormal metacarpal morphology, Anal...	ORPHA:1590
Acrofacial Dysostosis, Rodríguez Type	Aqueductal stenosis, Fibular hypoplasia, Finger syndactyly, Microtia, Finger aplasia, Prominent n...	ORPHA:1788
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Prominent nasal tip, Low...	ORPHA:502430
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Low-set ears, T...	OMIM:618506
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Myeloproliferative disorder, Erythroderma, Abnormality of the spleen, Abnormality o...	ORPHA:79456
Immunodeficiency 58	Chronic otitis media, Recurrent aphthous stomatitis, Seborrheic dermatitis, Chronic mucocutaneous...	OMIM:618131
Lynch Syndrome	Neoplasm of the stomach, Neoplasm of the pancreas, Intestinal polyposis, Neoplasm of the skin, Ma...	ORPHA:144
Oncogenic Osteomalacia	Carcinoma, Neoplasm of head and neck, Giant cell tumor of bone, Neoplasm of the skeletal system, ...	ORPHA:352540
Holoprosencephaly 11	Cleft palate, Holoprosencephaly	OMIM:614226
Mandibulofacial Dysostosis With Alopecia	Stenosis of the external auditory canal, Microtia, Low-set ears, Glossoptosis, Conductive hearing...	OMIM:616367
Familial Colorectal Cancer Type X	Neoplasm of the thyroid gland, Basal cell carcinoma, Neoplasm of the pancreas, Neoplasm of the re...	ORPHA:440437
Tarp Syndrome	Rocker bottom foot, Hypoplasia of the radius, Meckel diverticulum, Anteverted nares, Microtia, Lo...	OMIM:311900
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Frontal bossing, Microtia	OMIM:618158
Mandibulofacial Dysostosis, Guion-Almeida Type	Short nose, Proximal placement of thumb, Esophageal atresia, Anteverted nares, Microtia, Low-set ...	OMIM:610536
Microphthalmia/Coloboma 5	Holoprosencephaly	OMIM:611638
Microtia, Hearing Impairment, And Cleft Palate	Mixed hearing impairment, Stenosis of the external auditory canal, Microtia, Cleft palate, Increa...	OMIM:612290
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Semilobar holoprosencephaly, Hitchhiker thumb, Prominent occiput, Sensorineural hearing impairmen...	OMIM:618500
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Abnormal metaphysis morphology, Short nose, Clinodactyly of the 5th finger, Abnormal metacarpal m...	ORPHA:2370
Hypertelorism-Microtia-Facial Clefting Syndrome	Microtia, Bifid nasal tip, Median cleft palate, Atresia of the external auditory canal, Conductiv...	ORPHA:2213
49,Xxxxy Syndrome	Chronic otitis media, Brachycephaly, Clinodactyly of the 5th finger, Wide nose, Delayed eruption ...	ORPHA:96264
Holoprosencephaly, Semilobar, With Craniosynostosis	Semilobar holoprosencephaly, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal ...	OMIM:601370
Femoral-Facial Syndrome	Abnormal fibula morphology, Short nose, Inguinal hernia, Microtia, Low-set ears, Coxa vara, Aplas...	ORPHA:1988
Saethre-Chotzen Syndrome	Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, Broad thumb, Craniosynosto...	ORPHA:794
Difference Of Sex Development-Intellectual Disability Syndrome	Short nose, Genu valgum, Low-set, posteriorly rotated ears, Spina bifida occulta, Microtia, Sever...	ORPHA:2983
20P12.3 Microdeletion Syndrome	Microtia, Broad thumb, Broad hallux phalanx, Thickened helices, Wide nasal bridge, Depressed nasa...	ORPHA:261295
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Small cell lung carcinoma, Testicular neoplasm, Female reproductive sys...	ORPHA:71505
Monosomy 13Q14	Clinodactyly of the 5th finger, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set ears,...	ORPHA:1587
Maxillonasal Dysplasia, Binder Type	Short nose, Short distal phalanx of finger, Large earlobe, Depressed nasal bridge, Short columella	OMIM:155050
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Intellectual Developmental Disorder, X-Linked 30	Short nose, Hydrocephalus, Anteverted nares, Prominent fingertip pads, High palate, Macrotia, Pro...	OMIM:300558
14Q11.2 Microdeletion Syndrome	Short nose, Low-set, posteriorly rotated ears, High palate, Toe clinodactyly, Toe syndactyly, Dep...	ORPHA:261120
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Brachycephaly, Aplasia/Hypoplasia of the external ear, Wide nose, Hyperextensibility of the finge...	ORPHA:505237
Microform Holoprosencephaly	Short nose, Narrow nasal bridge, Anteverted nares, Choanal atresia, Midnasal stenosis, Cleft pala...	ORPHA:280200
Branchiootic Syndrome 1	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Low-set ears, Cochlear malf...	OMIM:602588
Isotretinoin Embryopathy-Like Syndrome	Hydrocephalus, Microtia, Cleft palate, Anotia	OMIM:243440
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Hydrocephalus, Microtia, Hearing impairment, Frontal bossing, ...	ORPHA:1926
Benign Cephalic Histiocytosis	Skin rash, Inflammatory abnormality of the skin	ORPHA:157997
Cowden Syndrome 1	Carcinoma, Thyroiditis, Hamartomatous polyposis, Transitional cell carcinoma of the bladder, Meni...	OMIM:158350
Holoprosencephaly-Craniosynostosis Syndrome	Brachycephaly, Plagiocephaly, Clinodactyly of the 5th finger, Holoprosencephaly, Brachydactyly, S...	ORPHA:2163
Omenn Syndrome	Hepatomegaly, Thyroiditis, Erythroderma, Lymphoma, Splenomegaly, Pneumonia, Pruritus	ORPHA:39041
Meckel Syndrome, Type 8	Polydactyly, Occipital encephalocele, Short nose, Encephalocele, Low-set ears, Depressed nasal ri...	OMIM:613885
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Brachycephaly, Plagiocephaly, Short nose, Hydrocephalus, Anteverted nares, Wide nasal bridge, Uni...	OMIM:618577
Retinoblastoma	Retinoblastoma, Lymphoma, Ewing sarcoma, Osteosarcoma, Pinealoma, Leukemia	OMIM:180200
Intellectual Developmental Disorder, Autosomal Dominant 43	Low hanging columella, Attached earlobe, Microtia, Anteverted nares, High palate, Prominent nasal...	OMIM:616977
Pfeiffer Syndrome Type 2	Deviation of the thumb, Broad thumb, Intestinal malrotation, Hydrocephalus, Cloverleaf skull, Cho...	ORPHA:93259
Pallister-Hall-Like Syndrome	Occipital encephalocele, Short nose, Hydrocephalus, Postaxial hand polydactyly, Micromelia, Death...	OMIM:241800
Perlman Syndrome	Short nose, High, narrow palate, Inguinal hernia, Anteverted nares, Low-set ears, Dolichocephaly,...	ORPHA:2849
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Short nose, Aganglionic megacolon, Turricephaly, Hydrocephalus, Microtia, Low-set ...	OMIM:613603
Schilbach-Rott Syndrome	Long nose, 2-3 toe cutaneous syndactyly, Microtia, Prominent nose, Bifid uvula, Posteriorly rotat...	OMIM:164220
Hemifacial Atrophy, Progressive	Microtia, Delayed eruption of teeth, Tongue atrophy	OMIM:141300
Weiss-Kruszka Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Anteverted nares, Microt...	OMIM:618619
Edinburgh Malformation Syndrome	Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Choanal atresia, Slender finger, Front...	ORPHA:1895
Rothmund-Thomson Syndrome	Basal cell carcinoma, Squamous cell carcinoma, Malar rash, Neoplasm of the skin, Skin rash, Melan...	ORPHA:2909
Ring Chromosome 21 Syndrome	Clinodactyly, Holoprosencephaly, Syndactyly, Small hand	ORPHA:1445
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Hypoplasia of the ulna, Abnormal nostril morphology, Radial club hand, Ulnar bowing, Aplasia/Hypo...	ORPHA:2878
Hypertelorism, Microtia, Facial Clefting Syndrome	2-3 toe syndactyly, Microtia, Atresia of the external auditory canal, Conductive hearing impairme...	OMIM:239800
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormal columella morphology, Inguinal hernia, Abnormal finger morphology, ...	ORPHA:436003
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Microtia	ORPHA:939
Pseudotrisomy 13 Syndrome	Encephalocele, Hydrocephalus, 2-3 toe syndactyly, Postaxial hand polydactyly, Low-set ears, Anal ...	OMIM:264480
Fetal Trimethadione Syndrome	Brachycephaly, Short nose, Abnormal helix morphology, High palate, Low-set ears, Intrauterine gro...	ORPHA:1913
Pleuropulmonary Blastoma	Medulloblastoma, Rhabdomyosarcoma, Pleuropulmonary blastoma	OMIM:601200
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Hydrocephalus, Aqueductal stenosis, Adducted thumb, Holoprosencephaly	ORPHA:2182
Hemifacial Microsomia With Radial Defects	Triphalangeal thumb, Microtia, Atresia of the external auditory canal, Conductive hearing impairm...	OMIM:141400
Distal Deletion 17Q	Abnormal thumb morphology, Abnormal metacarpal morphology, Low-set, posteriorly rotated ears, Apl...	ORPHA:1597
Fg Syndrome Type 1	Clinodactyly of the 2nd finger, Prominent occiput, Sensorineural hearing impairment, Microtia, Ma...	ORPHA:93932
Short Stature And Facioauriculothoracic Malformations	Microtia, High palate, Low-set ears, Cleft palate, Overfolded helix, Cupped ear	OMIM:609654
Kerion Celsi	Recurrent cutaneous abscess formation, Recurrent skin infections, Inflammatory abnormality of the...	ORPHA:499
Tetraploidy	Radial club hand, Biparietal narrowing, Cleft palate, Hypoplasia of the ear cartilage, Intrauteri...	ORPHA:3305
Rhiny	Short nose, Anteverted nares, Inguinal hernia	OMIM:180360
Potocki-Shaffer Syndrome	Brachycephaly, Short nose, Turricephaly, Parietal foramina, 2-5 finger cutaneous syndactyly, Brac...	OMIM:601224
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Short nose, Death in infancy, Camptodactyly of finger, Protruding ear, Intrauterine growth retard...	ORPHA:1495
Muscle-Eye-Brain Disease	Hydrocephalus, Holoprosencephaly, Meningocele	ORPHA:588
20Q11.2 Microduplication Syndrome	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Ing...	ORPHA:363659
Holoprosencephaly	Abnormal pinna morphology, Anosmia, Absent nares, Encephalocele, Hydrocephalus, Anteverted nares,...	ORPHA:2162
Spondyloepimetaphyseal Dysplasia, Guo-Campeau Type	Proximal placement of thumb, Clinodactyly of the 2nd finger, Dislocated radial head, Absent toe, ...	OMIM:620663
Humeroradial Synostosis	Brachycephaly, Small earlobe, Microtia, Humeroradial synostosis, Wide nasal bridge	OMIM:236400
Steinfeld Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Abnormal pinna...	OMIM:184705
Chromosome 6Q11-Q14 Deletion Syndrome	Short nose, Inguinal hernia, High palate, Low-set ears, Broad nasal tip, Prominent nasal bridge, ...	OMIM:613544
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Cutaneous leiomyoma, Renal cell carcinoma, Uterine leiomyosarcoma, Mult...	OMIM:150800
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Long nose, Microtia, Low-set ears, Frontal bossing, Metaphyseal dysplasia, Posteriorly rotated ea...	OMIM:618336
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short nose, Hearing abnormality, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ear...	ORPHA:2031
Ring Chromosome 7 Syndrome	Brachycephaly, Plagiocephaly, Short nose, Genu valgum, Clinodactyly of the 5th finger, Small earl...	ORPHA:1449
Pelvis-Shoulder Dysplasia	Aplasia/hypoplasia of the femur, Hydranencephaly, Hydrocephalus, Dislocated radial head, Mesomeli...	ORPHA:2839
Holoprosencephaly 3	Abnormality of the nose, Single naris, Proboscis, Bifid uvula, Holoprosencephaly, Cleft palate, D...	OMIM:142945
Holoprosencephaly 14	Aqueductal stenosis, Proboscis, Alobar holoprosencephaly, Hydrocephalus, Anteverted nares, Low-se...	OMIM:619895
Postaxial Acrofacial Dysostosis	Hypoplasia of the ulna, Hypoplasia of the radius, Low-set, posteriorly rotated ears, Finger synda...	ORPHA:246
Intellectual Developmental Disorder, Fra12A Type	Erythroderma, Recurrent lower respiratory tract infections	OMIM:136630
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Thyroiditis, Chronic mucocutaneous candidiasis, Oropharyngeal squamous cell carcinoma, Eczematoid...	ORPHA:391487
Muir-Torre Syndrome	Basal cell carcinoma, Adenoma sebaceum, Ovarian neoplasm, Malignant genitourinary tract tumor, Be...	OMIM:158320
Isotretinoin-Like Syndrome	Aplasia/Hypoplasia of the inner ear, Inguinal hernia, Hydrocephalus, Anteverted nares, Microtia, ...	ORPHA:2306
Jacobsen Syndrome	Short nose, Clinodactyly of the 5th finger, Hydrocephalus, Anteverted nares, Low-set ears, Pylori...	OMIM:147791
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Carcinoma, Decreased testicular size, Laryngeal carcinoma	OMIM:610644
Dyskeratosis Congenita, X-Linked	Cirrhosis, Acute myeloid leukemia, Squamous cell carcinoma, Carcinoma, Oropharyngeal squamous cel...	OMIM:305000
Hereditary Acrokeratotic Poikiloderma	Squamous cell carcinoma, Keratoconjunctivitis, Eczematoid dermatitis, Transitional cell carcinoma...	ORPHA:2907
Meckel Syndrome 14	Occipital encephalocele, Anteverted nares, Postaxial hand polydactyly, Bowing of the long bones, ...	OMIM:619879
Distal Duplication 18Q	Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Anteverted nares, ...	ORPHA:1716
19P13.3 Microduplication Syndrome	Microtia, Low-set ears, Prominent nose, Long fingers, Cleft palate, Posteriorly rotated ears, Int...	ORPHA:447980
Johnson Neuroectodermal Syndrome	Protruding ear, Microtia, Anosmia, Choanal atresia, Atresia of the external auditory canal, Condu...	ORPHA:2316
Oculocutaneous Albinism Type 1B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:79434
Classic Mycosis Fungoides	Hepatomegaly, Neoplasm of the skin, Skin rash, Lymphoma, Eczematoid dermatitis, Splenomegaly, Cut...	ORPHA:2584
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Squamous cell carcinoma	ORPHA:89842
Kindler Epidermolysis Bullosa	Cheilitis, Squamous cell carcinoma, Periodontitis, Esophagitis, Inflammation of the large intesti...	ORPHA:2908
Chromosome 13Q14 Deletion Syndrome	Clinodactyly of the 5th finger, Inguinal hernia, Low-set ears, Anteverted ears, High palate, Hear...	OMIM:613884
Dermatomyositis	Myocarditis, Abnormal pulmonary interstitial morphology, Elevated circulating hepatic transaminas...	ORPHA:221
Von Hippel-Lindau Syndrome	Hepatic hemangioma, Pulmonary capillary hemangiomatosis, Neoplasm of the pancreas, Spinal hemangi...	OMIM:193300
Holoprosencephaly-Postaxial Polydactyly Syndrome	Low-set, posteriorly rotated ears, Encephalocele, Hydrocephalus, Postaxial hand polydactyly, Anal...	ORPHA:2166
Verloove Vanhorick-Brubakk Syndrome	Tarsal synostosis, Abnormal femur morphology, Abnormal metacarpal morphology, Finger syndactyly, ...	ORPHA:3429
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Short nose, Inguinal hernia, High palate, Camptodactyly, Bilateral talipes equinov...	OMIM:615539
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Anteverted nares, Microtia, Low-set ears, Hearing impairment, Craniosynostosis	OMIM:619056
Thrombocytopenia 8, With Dysmorphic Features And Developmental Delay	Microtia, High palate, Hearing impairment, Posteriorly rotated ears, Broad nasal tip, Umbilical h...	OMIM:620475
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Intestinal lymphangiectasia, Microtia, Camptodactyly, Hearing impairment, Syndactyly, Depressed n...	OMIM:616006
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Hypoplasia of the ulna, Hearing abnormality, Clinodactyly of the 5th finger, Aplasia/Hypoplasia o...	ORPHA:1352
Robinow Syndrome, Autosomal Recessive 2	Short nose, Sandal gap, Cleft soft palate, Anteverted nares, Prominent fingertip pads, Low-set ea...	OMIM:618529
Distal Triplication 15Q	Hydrocephalus, Sensorineural hearing impairment, Microtia, Abnormal helix morphology, Low-set ear...	ORPHA:314588
Holoprosencephaly 4	Semilobar holoprosencephaly, Median cleft palate, Depressed nasal tip, Absent nasal septal cartil...	OMIM:142946
Autosomal Recessive Omodysplasia	Abnormal metaphysis morphology, Short nose, Abnormal femur morphology, Rhizomelia, Anteverted nar...	ORPHA:93329
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Short nose, Hydrocephalus, Meckel diverticulum, Low-set ears, Thick nasal alae, Frontal bossing, ...	ORPHA:163961
Pierpont Syndrome	Brachycephaly, Short finger, Short nose, Wide nose, Prominent fingertip pads, Hearing impairment,...	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	Narrow palate, Short nose, Microtia, Hearing impairment, Macrotia, Frontal bossing, Wide nasal br...	OMIM:620250
Isolated Exencephaly	Abnormal calvaria morphology, Hypoplasia of the frontal bone, Low-set ears, Holoprosencephaly, De...	ORPHA:563612
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the upper limbs, Hypoplastic nasal septum, Anteverted nares...	ORPHA:40366
Craniodigital-Intellectual Disability Syndrome	Brachycephaly, Short nose, Spina bifida occulta, Narrow nasal bridge, Finger syndactyly	ORPHA:1514
Hartsfield Syndrome	Semilobar holoprosencephaly, Wide nose, Alobar holoprosencephaly, Hypoplasia of the frontal bone,...	OMIM:615465
Branchiootorenal Syndrome 1	Mixed hearing impairment, Incomplete partition of the cochlea type II, Hypoplasia of the cochlea,...	OMIM:113650
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Osteosarcoma, Fibrosarcoma, Histiocytoma, Osteomyelitis leading to amputation due to slow healing...	OMIM:112250
Familial Pancreatic Carcinoma	Jaundice, Elevated circulating hepatic transaminase concentration, Peritoneal abscess, Breast car...	ORPHA:1333
Solitary Median Maxillary Central Incisor	Anosmia, Choanal atresia, Midnasal stenosis, Holoprosencephaly, Abnormal nasopharynx morphology, ...	OMIM:147250
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Polydactyly, Short nose, Recurrent otitis media, Low-set ears, Conductive hearing impairment, Int...	OMIM:616910
Familial Multinodular Goiter	Basal cell carcinoma, Thyroid carcinoma, Ovarian neoplasm, Pleuropulmonary blastoma, Colorectal p...	ORPHA:276399
Osteopathia Striata With Cranial Sclerosis	Flexion contracture of toe, Microtia, Intestinal malrotation, Arachnodactyly, Bifid uvula, Fibula...	OMIM:300373
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Short nose, Carpal bone hypoplasia, Craniosynostosis, Microtia, Femoral bowing, Low-set ears, Sho...	OMIM:616723
Peripheral Primitive Neuroectodermal Tumor	Spinal cord tumor, Neoplasm of the pancreas, Jaundice, Ovarian neoplasm, Pancreatitis, Brain neop...	ORPHA:370348
Seckel Syndrome 7	Abnormal carpal morphology, Clinodactyly of the 5th finger, Microtia, Short middle phalanx of the...	OMIM:614851
Coxoauricular Syndrome	Abnormal femur morphology, Microtia, Micromelia, Hearing impairment, Atresia of the external audi...	ORPHA:1508
Immunodeficiency 110 With Lymphoproliferation	Recurrent aphthous stomatitis, Recurrent lower respiratory tract infections, Chronic mucocutaneou...	OMIM:614868
Ohdo Syndrome	Short nose, Clinodactyly of the 5th finger, Stenosis of the external auditory canal, Microtia, An...	OMIM:249620
Meige Disease	Recurrent skin infections, Angiosarcoma, Pleural effusion, Recurrent bacterial skin infections	ORPHA:90186
Pfeiffer Syndrome	Short nose, 3-4 toe cutaneous syndactyly, Hydrocephalus, Shortening of all middle phalanges of th...	OMIM:101600
Developmental And Epileptic Encephalopathy 73	Sensorineural hearing impairment, Short nose, Inguinal hernia, Narrow nasal bridge	OMIM:618379
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Brachycephaly, Flat occiput, Encephalocele, Finger syndactyly, Low-set ears, Depressed nasal ridg...	ORPHA:2211
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Short nose, Bilateral choanal atresia, Clinodactyly of the 5th finger, Esophageal ...	OMIM:619859
Atelis Syndrome 1	Prominent nose, Microtia, High palate, Glue ear	OMIM:620184
Rhabdomyosarcoma, Embryonal, 2	Pleuropulmonary blastoma, Ovarian thecoma, Multinodular goiter, Embryonal rhabdomyosarcoma, Goite...	OMIM:180295
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Cholesteatoma, Stenosis of the external auditory canal, Microtia, Anteverted nares, L...	OMIM:611209
X-Linked Intellectual Disability, Van Esch Type	Coronal craniosynostosis, Microtia, Clinodactyly of the 5th finger, Intrauterine growth retardation	ORPHA:163976
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Short nose, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, Hearing impairmen...	ORPHA:2701
Buratti-Harel Syndrome	Clinodactyly of the 5th finger, Microtia, Low-set ears, High palate, Broad thumb, Velopharyngeal ...	OMIM:619314
Halperin-Birk Syndrome	Semilobar holoprosencephaly, Death in childhood, Inguinal hernia, High palate, Hearing impairment...	OMIM:618651
Tropical Pancreatitis	Jaundice, Abnormal pancreatic duct morphology, Pancreatic calcification, Pancreatic adenocarcinom...	ORPHA:103918
Rothmund-Thomson Syndrome Type 1	Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Melanoma, Myelodysplasia, Os...	ORPHA:221008
Absent Eyebrows And Eyelashes With Mental Retardation	Convex nasal ridge, Short nose, Encephalocele	OMIM:200130
Cousin Syndrome	Dislocated radial head, Microtia, first degree, Mesomelia, Absent proximal finger flexion creases...	OMIM:260660
Chung-Jansen Syndrome	Short nose, Clinodactyly of the 5th finger, Anteverted nares, High palate, Macrotia, Large earlob...	OMIM:617991
Raine Syndrome	Mixed hearing impairment, Abnormal pinna morphology, Brachyturricephaly, Death in infancy, Hydroc...	OMIM:259775
Pfeiffer Syndrome Type 3	Aqueductal stenosis, Short nose, Short hallux, Finger syndactyly, Stenosis of the external audito...	ORPHA:93260
Fatty Acyl-Coa Reductase 1 Deficiency	Macrotia, Short nose, Depressed nasal bridge	ORPHA:438178
Lowry-Maclean Syndrome	Convex nasal ridge, Short nose, High, narrow palate, Inguinal hernia, Hydrocephalus, Midgut malro...	ORPHA:2409
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Brachycephaly, Short nose, Slender nose, Low-set ears, Macrotia, Intrauterine growth retardation	OMIM:615419
Holoprosencephaly 9	Short nose, Single naris, Alobar holoprosencephaly, Hydrocephalus, Bilateral cleft palate, Short ...	OMIM:610829
Hyper-Ige Syndrome 6, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Eosinophilic infiltration of the esophagus, Recurrent skin infections, B-cell ...	OMIM:620532
Cowden Syndrome 7	Trichilemmoma, Ductal carcinoma in situ, Intestinal polyposis, Papillary thyroid carcinoma, Heman...	OMIM:616858
Nager Syndrome	Hypoplasia of the radius, Triphalangeal thumb, Low-set, posteriorly rotated ears, Aplasia/Hypopla...	ORPHA:245
Retinoblastoma	Rhabdomyosarcoma, Leiomyosarcoma, Retinoblastoma, Lymphoma, Ewing sarcoma, Melanoma, Glioma, Pine...	ORPHA:790
Meier-Gorlin Syndrome 6	Short nose, Sandal gap, Stenosis of the external auditory canal, Microtia, Anteverted nares, Unde...	OMIM:616835
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Sarcoma, Meningioma, Hepatosplenomegaly, Gonadal ne...	ORPHA:96123
Fanconi Anemia, Complementation Group L	Esophageal atresia, Hydrocephalus, Microtia, Low-set ears, Tracheoesophageal fistula, Bilateral t...	OMIM:614083
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Short nose, Camptodactyly of finger, Macrotia, Dolichocephaly, Posteriorly rotated ears, Prominen...	ORPHA:2083
Intellectual Developmental Disorder, Autosomal Dominant 1	Brachycephaly, Short columella, Short nose, Clinodactyly of the 5th finger, Sandal gap, Microtia,...	OMIM:156200
Au-Kline Syndrome	Plagiocephaly, Short nose, Clinodactyly of the 5th finger, Craniosynostosis, Sensorineural hearin...	OMIM:616580
Rothmund-Thomson Syndrome Type 2	Basal cell carcinoma, Squamous cell carcinoma, Neoplasm of the skin, Lymphoma, Melanoma, Myelodys...	ORPHA:221016
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma, Neoplasm	OMIM:610651
Trichothiodystrophy	Squamous cell carcinoma, Recurrent bronchopulmonary infections, Eczematoid dermatitis, Conjunctiv...	ORPHA:33364
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Conjunctivitis, Squamous cell carcinoma of the skin, Melanoma	OMIM:278700
Trigonocephaly 1	Short nose, High, narrow palate, Meckel diverticulum, Omphalocele, Trigonocephaly, Craniosynostos...	OMIM:190440
Chondrodysplasia With Joint Dislocations, Gpapp Type	Capitate-hamate fusion, Short nose, Genu valgum, Irregular epiphyses of the metacarpals, Hitchhik...	OMIM:614078
Tumor Predisposition Syndrome 2	Ductal carcinoma in situ, Acute myeloid leukemia, Uveal melanoma, Juvenile type ovarian granulosa...	OMIM:619975
Drug Reaction With Eosinophilia And Systemic Symptoms	Myocarditis, Elevated circulating hepatic transaminase concentration, Thyroiditis, Skin rash, Pus...	ORPHA:139402
Opitz-Kaveggia Syndrome	Radial deviation of finger, Sensorineural hearing impairment, Prominent fingertip pads, Broad thu...	OMIM:305450
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Depressed nasal tip, Microtia, High palate, Finger joint contracture, Bulbous nose, Symphalangism...	OMIM:620494
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
46,Xy Sex Reversal 4	Recurrent otitis media, Sensorineural hearing impairment, Microtia, Anteverted nares, High palate...	OMIM:154230
Pyoderma Gangrenosum	Myositis, Rheumatoid arthritis, Inflammation of the large intestine, Pustule, Myelodysplasia, Mye...	ORPHA:48104
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Erythroderma, Recurrent pneumonia, Hepatosplenomegaly, Otitis media, Pn...	ORPHA:169160
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Low-set, posteriorly rotated ears, Clinodactyly of the 5th finger, Stomach ...	ORPHA:1052
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Developmental Delay, Dysmorphic Facies, And Brain Anomalies	Microtia, Low-set ears, Depressed nasal bridge	OMIM:620535
Mismatch Repair Cancer Syndrome 1	Basal cell carcinoma, T-cell lymphoma, Rhabdomyosarcoma, Pleomorphic xanthoastrocytoma, Leukemia,...	OMIM:276300
Oculoauriculovertebral Spectrum With Radial Defects	Triphalangeal thumb, Aplasia/Hypoplasia of the thumb, Abnormality of the inner ear, Sensorineural...	ORPHA:2549
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Brachycephaly, Plagiocephaly, Short nose, Low-set ears, High palate, Camptodactyly, Bulbous nose,...	ORPHA:369891
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Short nose, Low-set ears, Metaphyseal dysplasia, Intrauterine growth retardation, Craniosynostosi...	OMIM:614732
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Sandal gap, Enlarged metaphyses, Dislocated radial head, Microtia, Craniosynostosis, Prominent an...	OMIM:245600
Teebi Hypertelorism Syndrome 2	Short nose, Clinodactyly of the 5th finger, Delayed eruption of teeth, High palate, Hearing impai...	OMIM:619736
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Short nose, Anteverted nares, Depressed nasal ridge	ORPHA:1355
Microphthalmia With Limb Anomalies	Sandal gap, Tibial bowing, 4-5 metacarpal synostosis, Fibular hypoplasia, 2-3 toe cutaneous synda...	OMIM:206920
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Tuberous Sclerosis 2	Retinal hamartoma, Adenoma sebaceum, Cardiac rhabdomyoma, Subungual fibromas, Chordoma, Subependy...	OMIM:613254
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Skin rash, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	ORPHA:220295
Rothmund-Thomson Syndrome, Type 2	Annular pancreas, Basal cell carcinoma, Squamous cell carcinoma, Osteosarcoma, Cryptorchidism	OMIM:268400
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Aplasia/Hypoplasia of the external ear, Split hand, Wide nasal bridge	ORPHA:168486
Ohdo Syndrome, X-Linked	Inguinal hernia, Stenosis of the external auditory canal, Microtia, Low-set ears, High palate, He...	OMIM:300895
Aymé-Gripp Syndrome	Rocker bottom foot, Brachycephaly, Plagiocephaly, Short nose, Clinodactyly of the 5th finger, Ing...	ORPHA:1272
Lymphedema-Distichiasis Syndrome	Fibrosarcoma, Abnormality of the pulmonary vasculature, Conjunctivitis, Recurrent skin infections...	ORPHA:33001
Pachydermoperiostosis	Hepatomegaly, Seborrheic dermatitis, Neoplasm of the skin, Arthritis, Neoplasm of the lung, Eczem...	ORPHA:2796
Congenital Disorder Of Deglycosylation 2	Short columella, Sandal gap, Microtia, High palate, Bilateral talipes equinovarus, Broad thumb, H...	OMIM:619775
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Hearing impairment, Holoprosencephaly	ORPHA:77298
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Gastrointestinal carcinoma, Precocious puberty with Sertoli cell tumor,...	OMIM:175200
Distal Xq28 Microduplication Syndrome	Absent antihelix, Microtia, High palate, Metatarsus adductus, Epistaxis, Broad nasal tip, Recurre...	ORPHA:293939
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Short nose, Clinodactyly of the 5th finger, Anteverted nares, 2-3 toe syndactyly, Low-set ears, L...	OMIM:613443
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Recurrent pneumonia, Hepatosplenomegaly	OMIM:619750
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Atresia of the external auditory canal, Conductive hearing impairment, Microtia, Cleft palate	OMIM:300946
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Brachycephaly, Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Anteve...	OMIM:227330
Maxillonasal Dysplasia	Abnormal nostril morphology, Short nose, Depressed nasal ridge, Aplasia/Hypoplasia of the distal ...	ORPHA:1248
Alkuraya-Kucinskas Syndrome	Overlapping fingers, Plagiocephaly, Short nose, Hydrocephalus, Anteverted nares, Low-set ears, Hi...	OMIM:617822
Cerebrooculonasal Syndrome	Narrow palate, Brachycephaly, Short nose, Proboscis, Encephalocele, Hydrocephalus, Anteverted nar...	OMIM:605627
Non-Distal Duplication 13Q	Short nose, Aplasia/Hypoplasia of the earlobes, Abnormal antihelix morphology, High palate, Posta...	ORPHA:1702
Bazex-Dupre-Christol Syndrome	Basal cell carcinoma, Trichoepithelioma, Atopic dermatitis, Eczematoid dermatitis, Acne inversa	OMIM:301845
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Mesomelia, Intrauterine growth ret...	ORPHA:818
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Brachycephaly, Fibular hypoplasia, Preaxial polydactyly, Abnormal pinna morphology, Microtia, Low...	OMIM:617925
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Brachycephaly, Short nose, Flared metaphysis, Anteverted nares, Low-set ears, Decreased fibular d...	OMIM:616897
3C Syndrome	Short nose, High, narrow palate, Inguinal hernia, Prominent occiput, Hydrocephalus, Finger syndac...	ORPHA:7
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Rocker bottom foot, Brachycephaly, Short nose, Microtia, Low-set ears, Camptodactyly, Hearing imp...	OMIM:601353
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Aplasia/Hypoplasia of the thumb, Omphalocele, F...	ORPHA:3186
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Microtia	OMIM:168550
Facial Paresis, Hereditary Congenital, 3	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, High palate, Poster...	OMIM:614744
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Recurrent otitis media, Anteverted nares, Microtia, Posteriorly rotated ears, Wide nasal bridge	OMIM:602562
Trisomy 12P	Short nose, Turricephaly, Clinodactyly of the 5th finger, Abnormal antihelix morphology, Low-set ...	ORPHA:1699
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Short nose, Hammertoe, Hydrocephalus, High palate, Hearing impairment, Posteriorly...	OMIM:619833
Vacterl With Hydrocephalus	Aqueductal stenosis, Hypoplasia of the radius, Esophageal atresia, Inguinal hernia, Hydrocephalus...	ORPHA:3412
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Stenosis of the external au...	OMIM:606164
Grfoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97261
Odontochondrodysplasia	Abnormal metaphysis morphology, Short nose, Delayed eruption of teeth, Bowing of the long bones, ...	ORPHA:166272
Kagami-Ogata Syndrome	Inguinal hernia, Anteverted nares, Microtia, Omphalocele, Frontal bossing, Long fingers, Limb und...	OMIM:608149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Abnormal metatarsal morphology, Microtia, Anteverted nares, Brachydactyly, Rhizo-meso-acromelic l...	ORPHA:163654
Holoprosencephaly 13, X-Linked	Semilobar holoprosencephaly, Alobar holoprosencephaly, Microtia, Low-set ears, Median cleft palat...	OMIM:301043
Frontofacionasal Dysplasia	Brachycephaly, Short nose, Encephalocele, Dimple on nasal tip, Bifid nasal tip, Choanal atresia, ...	ORPHA:1791
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Plagiocephaly, Short nose, Aganglionic megacolon, Hydrocephalus, Sensorineural hearing impairment...	OMIM:239300
Saethre-Chotzen Syndrome	Long nose, Parietal foramina, Microtia, Partial duplication of the distal phalanx of the 2nd fing...	OMIM:101400
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Death in childhood, Encephalocele, Hydrocephalus, Microtia, Low-set ears, Death in infancy, Front...	OMIM:614643
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Long nose, Short nose, Low hanging columella, Delayed eruption of teeth, Anteverted nares, Underd...	OMIM:615866
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Microtia, Recurrent upper respiratory tract infections	OMIM:620137
Glutamine Deficiency, Congenital	Short nose, Anteverted nares, Low-set ears, Camptodactyly, Micromelia, Neonatal death, Wide nasal...	OMIM:610015
Chromosome 16P13.3 Duplication Syndrome	Rocker bottom foot, Proximal placement of thumb, Sandal gap, Microtia, Bifid uvula, Inguinal hern...	OMIM:613458
Netherton Syndrome	Chronic rhinitis, Eczematoid dermatitis, Erythroderma, Recurrent skin infections, Recurrent respi...	OMIM:256500
Gomez-Lopez-Hernandez Syndrome	Brachycephaly, Short nose, Turricephaly, Anteverted nares, Low-set ears, High palate, Posteriorly...	OMIM:601853
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Short nose, Shortening of all distal phalanges of the fingers, Cleft palate, Broad nasal tip, Lar...	OMIM:615716
Antley-Bixler Syndrome	Brachycephaly, Short nose, Turricephaly, Low-set, posteriorly rotated ears, Anteverted nares, Fem...	ORPHA:83
Congenital Erythropoietic Porphyria	Squamous cell carcinoma, Neoplasm of the skin, Keratoconjunctivitis, Recurrent bacterial skin inf...	ORPHA:79277
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Short nose, Anteverted nares, Low-set ears, Omphalocele, Intestinal malrotation, Prominent nose, ...	OMIM:618316
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Esophageal stenosis, Microtia, Neonatal death, Congenital pyloric atresia	OMIM:619817
Pterygium Colli, Isolated	Protruding ear, Short nose	OMIM:177990
Otopalatodigital Syndrome, Type I	Broad distal phalanx of finger, Sandal gap, Prominent occiput, Dislocated radial head, Femoral bo...	OMIM:311300
Charge Syndrome	Abnormal pinna morphology, Microtia, Anosmia, Tracheoesophageal fistula, Umbilical hernia, Intrau...	ORPHA:138
Desmosterolosis	Abnormality of the nose, Short nose, Abnormal earlobe morphology, Low-set, posteriorly rotated ea...	ORPHA:35107
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Short nose, Clinodactyly of the 5th finger, Sandal gap, Spina bifida occulta, Anteverted nares, L...	OMIM:617877
Phocomelia, Schinzel Type	Hypoplasia of the radius, Fibular aplasia, Aplasia of the ulna, Abnormal tibia morphology, High, ...	ORPHA:2879
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Brachycephaly, Plagiocephaly, Short nose, Clinodactyly of the 5th finger, Sandal gap, Low-set ear...	OMIM:618430
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Depressed nasal ridge, Camptodactyly of finger, Dep...	ORPHA:1529
Monosomy 9P	Brachycephaly, Short nose, Proximal placement of thumb, Abnormal antihelix morphology, Anteverted...	ORPHA:261112
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Hearing impairment, Prominent nasal br...	OMIM:618828
Hypomandibular Faciocranial Dysostosis	Brachycephaly, Short nose, Anteverted nares, Low-set ears, Death in infancy, Trigonocephaly, Bifi...	ORPHA:1790
Pallister-Hall Syndrome	Mesoaxial polydactyly, Microtia, Oligodactyly, Broad thumb, Trigonocephaly, Bifid uvula, Umbilica...	ORPHA:672
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Short nose, Aganglionic megacolon, Interphalangeal thumb joint contracture, Posteriorly rotated e...	OMIM:613870
Townes-Brocks Syndrome 1	Clinodactyly of the 5th toe, Sensorineural hearing impairment, Microtia, Tracheoesophageal fistul...	OMIM:107480
Acromicric Dysplasia	Short nose, Abnormal femur morphology, Anteverted nares, Short metacarpal, Short palm, Fifth meta...	ORPHA:969
Achondrogenesis	Short nose, Inguinal hernia, Anteverted nares, Micromelia, Frontal bossing, Umbilical hernia	ORPHA:932
Fetal Hydantoin Syndrome	Short nose, Hearing abnormality, Triphalangeal thumb, Low-set, posteriorly rotated ears, Abnormal...	ORPHA:1912
Auriculocondylar Syndrome	Aplasia/Hypoplasia of the external ear, Low-set, posteriorly rotated ears, Abnormal pinna morphol...	ORPHA:137888
Otopalatodigital Syndrome Type 2	Abnormal pinna morphology, Glossoptosis, Myelomeningocele, Fibular aplasia, Tarsal synostosis, Ab...	ORPHA:90652
Dermotrichic Syndrome	Short nose, Aganglionic megacolon, Macrotia, Frontal bossing, Depressed nasal bridge	ORPHA:99688
Pde4D Haploinsufficiency Syndrome	Short metacarpal, Broad metatarsal, Intrauterine growth retardation, Bilateral coxa valga, Hearin...	ORPHA:439822
Immunodeficiency 85 And Autoimmunity	Eczematoid dermatitis, Pulmonary fibrosis, Erythroderma, Recurrent respiratory infections, Oligoa...	OMIM:619510
Atelosteogenesis, Type I	Tibial bowing, Clubbing, Short metacarpal, Short humerus, Fibular aplasia, Short finger, Rhizomel...	OMIM:108720
Periventricular Nodular Heterotopia 7	Short nose, 1-4 toe syndactyly, Clinodactyly of the 5th finger, Talipes equinovarus, Sensorineura...	OMIM:617201
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Microtia, Camptodactyly, Dolichocephaly, Patellar aplasia, Intrauterin...	OMIM:613800
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Mixed hearing impairment, Microtia, Bifid uvula, Intrauterine growth retardation, Clinodactyly, C...	OMIM:620186
Acrodysostosis	Abnormal femur morphology, Short metacarpal, Coxa valga, Genu varum, Hypoplasia of the ulna, Hypo...	ORPHA:950
Recon Progeroid Syndrome	Proximal placement of thumb, Attached earlobe, Microtia, Narrow nasal ridge, Anteverted nares, Ar...	OMIM:620370
Fraser Syndrome	Abnormal pinna morphology, Microtia, Myelomeningocele, Death in infancy, Umbilical hernia, Calvar...	ORPHA:2052
Hyperparathyroidism-Jaw Tumor Syndrome	Fibroma, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Renal hamartoma, Primary h...	ORPHA:99880
16P11.2P12.2 Microdeletion Syndrome	Chronic otitis media, Long nose, Short nose, Proximal placement of thumb, Anteverted nares, Abnor...	ORPHA:261211
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Rocker bottom foot, Hydrocephalus, Hyperextensibility of the finger joints, 2-3 toe syndactyly, M...	ORPHA:163979
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Plagiocephaly, Short nose, Narrow nasal bridge, Low hanging columella, Anteverted nares, High pal...	OMIM:619383
Dyskeratosis Congenita, Digenic	Decreased testicular size, Basal cell carcinoma, Squamous cell carcinoma of the skin, Melanoma	OMIM:620040
Multiple Endocrine Neoplasia Type 4	Pituitary growth hormone cell adenoma, Pituitary corticotropic cell adenoma, Pulmonary carcinoid ...	ORPHA:276152
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Brachycephaly, Short nose, 2-3 toe syndactyly, High palate, Macrotia, Long fingers, Wide nasal br...	OMIM:218000
Scalp-Ear-Nipple Syndrome	Small earlobe, Microtia, Underdeveloped tragus, Broad thumb, Bifid uvula, Calvarial skull defect,...	OMIM:181270
Ichthyosis Prematurity Syndrome	Erythroderma, Pruritus, Allergic rhinitis	OMIM:608649
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Alopecia-Intellectual Disability Syndrome 4	Erythroderma, Bilateral cryptorchidism	OMIM:618840
Neurofibromatosis Type 1	Rhabdomyosarcoma, Multiple lipomas, Spinal neurofibroma, Chronic myelogenous leukemia, Pheochromo...	ORPHA:636
Diabetes Insipidus, Neurohypophyseal	Short nose, Wide nose	OMIM:125700
Robinow Syndrome, Autosomal Recessive 1	Radial deviation of finger, Mesomelic arm shortening, Dislocated radial head, Microtia, Broad thu...	OMIM:268310
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Paganini-Miozzo Syndrome	Low-set ears, Microtia, Posteriorly rotated ears	OMIM:301025
Familial Hemophagocytic Lymphohistiocytosis	Cholestatic liver disease, Decreased liver function, Jaundice, Hepatomegaly, Elevated circulating...	ORPHA:540
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Cleft palate	OMIM:248390
Distal Deletion 10Q	Sandal gap, Prominent fingertip pads, Cochlear malformation, Congenital sensorineural hearing imp...	ORPHA:96148
Congenital Ichthyosiform Erythroderma	Erythroderma, Keratitis, Pruritus	ORPHA:79394
Van Maldergem Syndrome 2	Short 4th metacarpal, Inguinal hernia, Sensorineural hearing impairment, Microtia, Stenosis of th...	OMIM:615546
Parathyroid Carcinoma	Fibroma, Parathyroid carcinoma, Thyroid carcinoma, Pancreatitis, Lipoma, Testicular neoplasm, Ren...	ORPHA:143
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Brachycephaly, Short nose, Abnormal femoral neck/head morphology, Hemiatrophy of upper limb, Ante...	ORPHA:163649
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Short nose, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Anteverted na...	OMIM:301040
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Short nose, Anteverted nares, High palate, Low-set ears, Recurrent upper respiratory tract infect...	OMIM:614069
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, 4-5 finger syndactyly, Bilateral sensorineural hearing impairm...	ORPHA:468631
Netherton Syndrome	Emphysema, Skin rash, Eczematoid dermatitis, Erythroderma, Recurrent respiratory infections	ORPHA:634
Inflammatory Skin And Bowel Disease, Neonatal, 1	Erythroderma, Blepharitis, Pustule	OMIM:614328
Burn-Mckeown Syndrome	Short nose, Bilateral choanal atresia, Prominent nasal bridge, Wide nasal bridge	ORPHA:1200
Ppoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Cholelithiasis, Increased circu...	ORPHA:97278
Galloway-Mowat Syndrome	Aqueductal stenosis, Camptodactyly of finger, Macrotia, Hypoplasia of the ear cartilage, Intraute...	ORPHA:2065
Severe Generalized Junctional Epidermolysis Bullosa	Gastrointestinal inflammation, Pneumothorax, Pyoderma, Squamous cell carcinoma, Pneumonia, Recurr...	ORPHA:79404
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Chronic oral candidiasis, Recurrent respiratory infections, Pulmonary interstitial lymphocyte inf...	OMIM:606367
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent aphthous stomatitis, Periodontitis, Hemangioma, Acute lymphobla...	ORPHA:486
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Microtia, Tracheoesophageal fistula, Hearing impairment, Short palm, Foot polydact...	ORPHA:268249
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Preaxial polydactyly, Aplasia of the epiglottis, Postaxial hand polydact...	OMIM:615948
Donnai-Barrow Syndrome	Short nose, Sensorineural hearing impairment, Omphalocele, Intestinal malrotation, Posteriorly ro...	ORPHA:2143
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastrointestinal inflammation, Squamous cell carcinoma, Recurrent skin infections, Cutaneous mela...	ORPHA:79408
Hereditary Mixed Polyposis Syndrome	Thyroid carcinoma, Hyperplastic colonic polyposis, Neoplasm of the rectum, Colorectal polyposis, ...	ORPHA:157794
Rhombencephalosynapsis	Polydactyly, Short nose, Aganglionic megacolon, Low-set, posteriorly rotated ears, Esophageal atr...	ORPHA:59315
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
Axial Mesodermal Dysplasia Spectrum	Hydrocephalus, Microtia, Abnormal intestine morphology, Tracheoesophageal fistula, Omphalocele, A...	ORPHA:1834
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Death in infancy, Intestinal malrotation, Bifid uvula, Intrauterine ...	OMIM:270400
16P12.1P12.3 Triplication Syndrome	Short nose, High, narrow palate, 2-3 toe syndactyly, Prominent fingertip pads, Low-set ears, Intr...	ORPHA:485405
C Syndrome	Short nose, Radial deviation of finger, Dislocated radial head, Anteverted nares, Postaxial hand ...	OMIM:211750
Meier-Gorlin Syndrome 5	Small earlobe, Microtia, Low-set ears, Hypoplasia of the capital femoral epiphysis, Patellar apla...	OMIM:613805
Intellectual Developmental Disorder, Autosomal Dominant 73	Long nose, Microtia, Prominent interphalangeal joints, Inguinal hernia, Anteverted nares, Posteri...	OMIM:620450
Proximal 16P11.2 Microduplication Syndrome	Arachnodactyly, Microtia, Frontal bossing	ORPHA:370079
Desmosterolosis	Short nose, Rhizomelia, Hydrocephalus, Anteverted nares, Low-set ears, Bilateral talipes equinova...	OMIM:602398
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Semilobar holoprosencephaly, Short nose, Anteverted nares, Tapered finger, Short foot, Camptodact...	OMIM:301044
Miller-Dieker Syndrome	Short nose, Anteverted nares, Clinodactyly of the 5th finger, Omphalocele	ORPHA:531
Meier-Gorlin Syndrome 7	Dislocated radial head, Sensorineural hearing impairment, Microtia, Clubbing, Craniosynostosis, C...	OMIM:617063
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Spinocerebellar Ataxia-Dysmorphism Syndrome	Short nose, Low-set, posteriorly rotated ears, Spina bifida occulta, Anteverted nares, Dolichocep...	ORPHA:1185
Van Esch-O'Driscoll Syndrome	Short nose, Clinodactyly of the 5th finger, Esophageal atresia, Spina bifida occulta, Microtia, T...	OMIM:301030
Tetrasomy 5P	Short nose, Clinodactyly of the 5th finger, Short hallux, Hydrocephalus, Anteverted nares, Low-se...	ORPHA:3309
Lamellar Ichthyosis	Chronic otitis media, Recurrent respiratory infections, Erythroderma, Pruritus	ORPHA:313
Mullegama-Klein-Martinez Syndrome	Polydactyly, Absent stapes, Clinodactyly of the 5th finger, Sensorineural hearing impairment, Mic...	OMIM:301022
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Carpal bone hypoplasia, Tapered phalanx of finger, Single interphalangeal crease of fifth finger,...	OMIM:611717
Idiopathic Hypereosinophilic Syndrome	Pancreatitis, Cholangitis, Portal fibrosis, Elevated circulating hepatic transaminase concentrati...	ORPHA:3260
Trisomy 20P	Brachycephaly, Plagiocephaly, Protruding ear, Short nose, Low-set, posteriorly rotated ears, Ingu...	ORPHA:261318
Robinow Syndrome, Autosomal Dominant 2	Partial duplication of the phalanx of hand, Short nose, Mixed hearing impairment, Cleft soft pala...	OMIM:616331
Verheij Syndrome	Short nose, Anteverted nares, Clinodactyly, Cleft palate, Broad nasal tip, Intrauterine growth re...	OMIM:615583
Treacher-Collins Syndrome	Brachycephaly, Encephalocele, Rectovaginal fistula, Microtia, Abnormality of the middle ear, Glos...	ORPHA:861
Achondrogenesis Type 1B	Short nose, Anteverted nares, Micromelia, Frontal bossing, Umbilical hernia, Short foot, Talipes ...	ORPHA:93298
Peho-Like Syndrome	Short nose, Tapered finger	OMIM:617507
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Esophageal neoplasm, Fibroma, Diffuse leiomyomatosis, Aspiration pneumonia, Vaginal neoplasm, Ker...	ORPHA:1018
Macrocephaly-Intellectual Disability-Autism Syndrome	Lymphoid nodular hyperplasia, Short nose, Intestinal polyposis, Foot polydactyly, Frontal bossing...	ORPHA:210548
Codas Syndrome	Short nose, Midline defect of the nose, Delayed eruption of teeth, Sensorineural hearing impairme...	ORPHA:1458
Ichthyosis With Confetti	Erythroderma, Hypoplastic nipples, Pruritus	OMIM:609165
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Death in infancy, Intestinal...	OMIM:615485
Waardenburg Syndrome Type 1	Short nose, Aganglionic megacolon, Meningocele, Spina bifida, Hearing impairment, Cleft palate, C...	ORPHA:894
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, High, narrow palate, Short nose, Convex nasal r...	ORPHA:3258
Meckel Syndrome	Anencephaly, Encephalocele, Low-set, posteriorly rotated ears, Hydrocephalus, Postaxial hand poly...	ORPHA:564
Ayme-Gripp Syndrome	Brachycephaly, Short nose, Sensorineural hearing impairment, Microtia, Low-set ears, Camptodactyl...	OMIM:601088
Peeling Skin Syndrome 1	Erythroderma, Pruritus	OMIM:270300
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Abnormal fibula morphology, Short nose, Sandal gap, Inguinal hernia, Hydrocephalus, Low-set ears,...	ORPHA:1812
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Short nose, Aganglionic megacolon, Anal stenosis, Anal atresia, Hearing impairment...	OMIM:614749
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Vipoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Increased circulating gonadotro...	ORPHA:97282
Fetal Valproate Spectrum Disorder	Short nose, Depressed nasal ridge, Omphalocele	ORPHA:1906
Arachnoid Cyst	Encephalocele, Hydrocephalus, Vertigo, Abnormal occipital bone morphology, Holoprosencephaly	ORPHA:2356
Van Maldergem Syndrome 1	Short 4th metacarpal, Sensorineural hearing impairment, Microtia, High palate, Camptodactyly, Sho...	OMIM:601390
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Short nose, Death in childhood, Anteverted nares, Metaphyseal widening, Limb undergrowth, Coarse ...	OMIM:618961
Epidermolytic Hyperkeratosis 2A, Autosomal Dominant	Erythroderma	OMIM:620150
Carney Complex	Neoplasm of the stomach, Ductal carcinoma in situ, Neoplasm of the pancreas, Pituitary growth hor...	ORPHA:1359
Fibrochondrogenesis 1	Stillbirth, Fibular hypoplasia, Short nose, Rhizomelia, Clinodactyly of the 5th finger, Anteverte...	OMIM:228520
Orofaciodigital Syndrome Type 4	Bifid uvula, Abnormality of the ear, Intrauterine growth retardation, Genu varum, Microtia, third...	ORPHA:2753
Neurodevelopmental Disorder With Spasticity And Poor Growth	High, narrow palate, Flat occiput, Anteverted nares, Microtia, Bilateral coxa valga, Low-set ears...	OMIM:618076
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Chronic oral candidiasis, Recurrent aphthous stomatitis, Skin rash, Verrucae, Hashimoto thyroidit...	ORPHA:275
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Clinodactyly of the 5th finger, Ulnar bowing, Flared metaphysis, Microtia, Tibial bowing, Coxa va...	OMIM:210720
Foxp1 Syndrome	Short nose, Hypoplastic helices, Recurrent otitis media, Prominent fingertip pads, Broad nasal ti...	ORPHA:391372
Achondrogenesis Type 1A	Short nose, Anteverted nares, Micromelia, Short palm, Frontal bossing, Umbilical hernia, Short foot	ORPHA:93299
21Q22.11Q22.12 Microdeletion Syndrome	Recurrent otitis media, Cone-shaped epiphyses of the phalanges of the hand, Anteverted nares, Mic...	ORPHA:261323
Rhizomelic Dysplasia, Patterson-Lowry Type	Short nose, Genu valgum, Rhizomelia, Wide nose, Deformed humeral heads, Short metacarpal, Coxa va...	ORPHA:2831
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Short nose, Low-set ears, Frontal bossing, Cleft palate, Dolichocephaly, Protruding ear, Overlapp...	OMIM:618571
Adnp Syndrome	Polydactyly, Brachycephaly, Plagiocephaly, Advanced eruption of teeth, Sandal gap, Inguinal herni...	ORPHA:404448
Diamond-Blackfan Anemia 10	Microtia, Low-set ears, Choanal atresia, Hearing impairment, Atresia of the external auditory can...	OMIM:613309
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Rhizomelia, Short metatarsal, Low hanging columella, Microtia, Low-set ears, Short metacarpal, Sh...	OMIM:614813
Glucagonoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Hepatomegaly, Increased circulating gonadotro...	ORPHA:97280
Subcorneal Pustular Dermatosis	Rheumatoid arthritis, Pustule, Pruritus, Multiple myeloma	ORPHA:48377
Intellectual Disability-Strabismus Syndrome	Rocker bottom foot, Plagiocephaly, Short nose, Recurrent otitis media, Narrow nasal ridge, Low-se...	ORPHA:363528
Fg Syndrome 5	Trigonocephaly, Short nose, Anteverted nares, Depressed nasal bridge	OMIM:300581
Von Hippel-Lindau Disease	Myocarditis, Neoplasm of the pancreas, Pancreatic endocrine tumor, Adrenal pheochromocytoma, Reti...	ORPHA:892
Baller-Gerold Syndrome	Brachycephaly, Short nose, Abnormal carpal morphology, Abnormal metacarpal morphology, Aplasia/Hy...	ORPHA:1225
Dyskeratosis Congenita, Autosomal Dominant 1	Cirrhosis, Squamous cell carcinoma of the skin, Hepatic necrosis, Pulmonary fibrosis, Interstitia...	OMIM:127550
Microcephalic Primordial Dwarfism, Dauber Type	Abnormal carpal morphology, Clinodactyly of the 5th finger, Microtia, Short middle phalanx of the...	ORPHA:319675
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Gaucher Disease, Perinatal Lethal	Short nose, Anteverted nares, Microtia, Low-set ears, Neonatal death, Intrauterine growth retarda...	OMIM:608013
Somatostatinoma	Neoplasm of the pancreas, Intrahepatic cholestasis, Gallbladder dysfunction, Hepatomegaly, Increa...	ORPHA:97283
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Arthritis, Eczematoid dermatitis, Erythroderma, Hepatitis, Glomerulonephritis	OMIM:304790
Tetraamelia-Multiple Malformations Syndrome	Hydrocephalus, Microtia, Aplasia/Hypoplasia involving the nose, Anal atresia	ORPHA:3301
Hennekam-Beemer Syndrome	Long nose, Clinodactyly of the 5th finger, Wide nose, Microtia, High palate, Hearing impairment, ...	ORPHA:2135
Acrofacial Dysostosis, Catania Type	Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Inguinal hernia, S...	ORPHA:1786
Meier-Gorlin Syndrome 1	Microtia, Death in infancy, Intrauterine growth retardation, Coxa valga, Genu varum, Camptodactyl...	OMIM:224690
Fetal Alcohol Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, Biparietal narrowing, Cleft pala...	ORPHA:1915
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Recurrent otitis media, Microtia, Hearing impairment, Cleft palate, Abnormality of the outer ear,...	ORPHA:2728
Leukocyte Adhesion Deficiency Type Ii	Narrow palate, Recurrent otitis media, Small earlobe, Microtia, Depressed nasal ridge, Protruding...	ORPHA:99843
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Hand-Foot-Genital Syndrome	Clinodactyly of the 5th finger, Proximal placement of thumb, Short first metatarsal, Short hallux...	ORPHA:2438
Cowden Syndrome	Neoplasm of the central nervous system, Neoplasm of the thyroid gland, Adenoma sebaceum, Fibroma,...	ORPHA:201
Candidiasis, Familial, 8	Blepharitis, Chronic oral candidiasis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Peho Syndrome	Short nose, Hydrocephalus, Anteverted nares, Abnormal pinna morphology, Biparietal narrowing, Mac...	ORPHA:2836
Vexas Syndrome	Nasal chondritis, Arteritis, Arthritis, Inflammatory abnormality of the skin, Chondritis of pinna...	OMIM:301054
Menke-Hennekam Syndrome 1	Sandal gap, Short ear, Prominent inferior crus of antihelix, Umbilical hernia, Overlapping toe, I...	OMIM:618332
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Hydrocephalus, Holoprosencephaly, Encephalocele	OMIM:253800
Mosaic Variegated Aneuploidy Syndrome 2	Short nose, Rhizomelia, Clinodactyly of the 5th finger, Low-set ears, Round ear, Severe intrauter...	OMIM:614114
Townes-Brocks Syndrome 2	Rectovaginal fistula, Spina bifida occulta, Microtia, Anal atresia, Overfolded helix, Cupped ear	OMIM:617466
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Recurrent lower respiratory tract infections, Crohn's disease, Optic neuritis, Thyr...	ORPHA:436159
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Finger joint contracture, Narrow nose	OMIM:212112
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Short nose, Cleft soft palate, Anteverted nares, Microtia, Hearing impairment, Submucous cleft so...	ORPHA:2282
Tetrasomy 18P	Short nose, Large hands, Low-set, posteriorly rotated ears	ORPHA:3307
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Nephroblastoma, Ovarian serous cystadenoma, Multiple lipomas, Hydrocele te...	ORPHA:276280
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Miller-Dieker Lissencephaly Syndrome	Polydactyly, Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Delayed eruption of tee...	OMIM:247200
Multiple Endocrine Neoplasia Type 1	Neoplasm of the pancreas, Pheochromocytoma, Pituitary growth hormone cell adenoma, Pituitary cort...	ORPHA:652
8P23.1 Microdeletion Syndrome	Short nose, Proximal placement of thumb, Abnormal pinna morphology, Low-set ears, High palate, Bi...	ORPHA:251071
Turcot Syndrome With Polyposis	Intestinal polyposis, Cerebellar medulloblastoma, Pituitary adenoma, Desmoid tumors, Neoplasm of ...	ORPHA:99818
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate	ORPHA:2598
Generalized Pustular Psoriasis	Cheilitis, Elevated circulating hepatic transaminase concentration, Arthritis, Palmoplantar pustu...	ORPHA:247353
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Macrotia, Short nose, Bulbous nose, Wide nasal bridge	OMIM:620292
Harlequin Ichthyosis	Erythroderma, Recurrent respiratory infections	ORPHA:457
19P13.13 Microdeletion Syndrome	Brachycephaly, Short nose, Sandal gap, Anteverted nares, Low-set ears, High palate, Macrotia, Lon...	ORPHA:357001
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Semilobar holoprosencephaly, Absence of Stensen duct, Inguinal hernia, Rectovaginal fistula, Micr...	OMIM:129900
Leukodystrophy, Hypomyelinating, 10	Short nose, Anteverted nares, Low-set ears, Hearing impairment, Arachnodactyly, Hypoplasia of the...	OMIM:616420
Microtia With Meatal Atresia And Conductive Deafness	Conductive hearing impairment, Microtia, Anotia, Aplasia/Hypoplasia of the middle ear	OMIM:251800
Achondrogenesis, Type Ia	Hypoplasia of the radius, Stillbirth, Turricephaly, Short nose, Talipes equinovarus, Severe limb ...	OMIM:200600
Ichthyosis With Erythrokeratoderma	Erythroderma, Pruritus	OMIM:620507
Chondrodysplasia Punctata 1, X-Linked Recessive	Short nose, Short nasal septum, Anosmia, Hearing impairment, Short distal phalanx of finger, Depr...	OMIM:302950
Marshall Syndrome	Small distal femoral epiphysis, Small proximal tibial epiphyses, Recurrent otitis media, Clinodac...	OMIM:154780
Bartsocas-Papas Syndrome 1	Microtia, Oligodactyly, Short metacarpal, Absent thumb, Syndactyly, Absent radius, Intrauterine g...	OMIM:263650
Toluene Embryopathy	Short nose, Low-set ears, Biparietal narrowing, Protruding ear, Tapered finger	ORPHA:1920
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Erythroderma, Cirrhosis, Elevated circulating hepatic transaminase concentration, Conjunctivitis	OMIM:242150
Faundes-Banka Syndrome	Plagiocephaly, Long ear, Flexion contracture of toe, Microtia, Low-set ears, Conductive hearing i...	OMIM:619376
Ear-Patella-Short Stature Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Microtia, third degree, Low-set ears, Hearin...	ORPHA:2554
Sweet Syndrome	Acne, Panniculitis, Acute myeloid leukemia, Chronic lymphatic leukemia, Myositis, Breast carcinom...	ORPHA:3243
Al-Raqad Syndrome	Brachydactyly, Short nose, Low-set ears, Sandal gap	OMIM:616459
Immunodeficiency 25	Erythroderma, Recurrent pneumonia	OMIM:610163
Baraitser-Winter Syndrome 1	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Duplication of phal...	OMIM:243310
Desbuquois Dysplasia 1	Sandal gap, Broad femoral neck, Bifid distal phalanx of the thumb, Intrauterine growth retardatio...	OMIM:251450
Treacher Collins Syndrome 2	Microtia, Choanal atresia, Fusion of middle ear ossicles, Conductive hearing impairment, Cleft pa...	OMIM:613717
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Posteriorly rotated ears, Sandal gap	OMIM:300887
Lacrimoauriculodentodigital Syndrome 3	Microtia, Hearing impairment, Partial duplication of thumb phalanx, Short thumb, Xerostomia, Cupp...	OMIM:620193
Congenital Disorder Of Glycosylation, Type Iu	Short nose, High palate, Death in infancy	OMIM:615042
Intellectual Developmental Disorder, Autosomal Dominant 53	Brachycephaly, Posterior plagiocephaly, Genu valgum, Microtia, Intestinal malrotation, Short femu...	OMIM:617798
Lmna-Related Cardiocutaneous Progeria Syndrome	Basal cell carcinoma, Emphysema, Squamous cell carcinoma of the skin, Abnormality of the pulmonar...	ORPHA:363618
Trichohepatoenteric Syndrome 1	Large placenta, Wide nose, Anteverted nares, Microtia, Low-set ears, Depressed nasal ridge, Front...	OMIM:222470
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Short nose, Anteverted nares, High palate, Frontal bossing, Broad hallux, Bulbous nose, Depressed...	OMIM:614105
Aicardi Syndrome	Lipoma, Carcinoma, Metastatic angiosarcoma, Teratoma, Hemangioma, Recurrent pneumonia, Hepatoblas...	OMIM:304050
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Short nose, Clinodactyly of the 5th finger, Sandal gap, 2-3 toe syndactyly, Overfolded helix, Hig...	OMIM:617061
Cutis Laxa, Autosomal Recessive, Type Iia	Short nose, Inguinal hernia, Anteverted nares, High palate, Low-set ears, Frontal bossing, Intrau...	OMIM:219200
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Erythroderma, Hepatosplenomegaly, Recurrent lower respiratory tract infections, Recurrent upper r...	ORPHA:169154
Acrodysostosis 2 With Or Without Hormone Resistance	Short nose, Short metatarsal, Anteverted nares, Short metacarpal, Short phalanx of finger, Brachy...	OMIM:614613
Kagami-Ogata Syndrome	Large placenta, Inguinal hernia, Anteverted nares, Microtia, Omphalocele, Frontal bossing, Depres...	ORPHA:254519
Cushing Syndrome Due To Ectopic Acth Secretion	Neoplasm of the stomach, Acne, Neuroendocrine neoplasm, Small cell lung carcinoma, Pancreatic end...	ORPHA:99889
Meier-Gorlin Syndrome 4	Low-set ears, Microtia, Patellar aplasia, Intrauterine growth retardation	OMIM:613804
Tetrasomy 12P	Short nose, Abnormal soft palate morphology, Delayed eruption of teeth, Anteverted nares, Anal at...	ORPHA:884
Smith-Magenis Syndrome	Chronic otitis media, Brachycephaly, Short nose, Clinodactyly of the 5th finger, Anteverted nares...	ORPHA:819
Progeria-Short Stature-Pigmented Nevi Syndrome	Elevated circulating hepatic transaminase concentration, Neoplasm of the pancreas, Hepatic steato...	ORPHA:2959
Osteoglophonic Dysplasia	Eruption failure, Short metacarpal, Broad metatarsal, Broad thumb, Craniosynostosis, Rhizomelia, ...	OMIM:166250
Fryns Microphthalmia Syndrome	Macrotia, Bilateral cleft palate, Neural tube defect	OMIM:600776
Arthrogryposis, Distal, Type 2A	Rocker bottom foot, Short nose, Flexion contracture of toe, Inguinal hernia, Spina bifida occulta...	OMIM:193700
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Hepatomegaly, Elevated circulating hepatic transaminase concentration, Cholestasis, Lymphadenitis...	OMIM:615895
Distal Deletion 12Q	Brachycephaly, High, narrow palate, Clinodactyly of the 5th finger, Esophageal atresia, Prominent...	ORPHA:96149
Mosaic Variegated Aneuploidy Syndrome 1	Brachycephaly, Short nose, Wide nose, Hydrocephalus, Anteverted nares, Low-set ears, Cleft palate...	OMIM:257300
Microcephaly-Capillary Malformation Syndrome	Short nose, Wide nose, Low-set ears, Hearing impairment, Cleft palate, Brachydactyly, Short dista...	OMIM:614261
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Eosinophilic infiltration of the esophagus, Erythroderma, Recur...	OMIM:615508
Baker-Gordon Syndrome	Short nose, Prominent nasal tip	OMIM:618218
Teebi Hypertelorism Syndrome 1	Short nose, Anteverted nares, Omphalocele, Coronal craniosynostosis, Frontal bossing, Natal tooth...	OMIM:145420
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Short nose, Choanal atresia, Hearing impairment, Posteriorly rotated ears, Celiac disease, Bulbou...	ORPHA:284169
Cerebrofacioarticular Syndrome	Anal stenosis, Bilateral choanal atresia/stenosis, Microtia, Camptodactyly, Conductive hearing im...	ORPHA:314679
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Deviation of the 5th toe, Short nose, Wide nose, Sensorineural hearing impairment, Anteverted nar...	ORPHA:391408
Chromosome 19Q13.11 Deletion Syndrome, Distal	Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Anteverted nares, Low-set ears, Cuta...	OMIM:613026
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Rectovestibular fistula, Short nose, Proportionate shortening of all digits, Flexion contracture ...	ORPHA:280633
Barber-Say Syndrome	Clinodactyly of the 5th finger, Wide nose, Delayed eruption of teeth, Stenosis of the external au...	OMIM:209885
Craniofacioskeletal Syndrome	Clinodactyly of the 5th finger, Microtia, Choanal atresia, Short palm, Cleft palate, Posteriorly ...	OMIM:300712
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Hydrocephalus, Microtia, Low-set ears, Meningoencephalocele, Anal atresi...	OMIM:236670
Ring Chromosome 12 Syndrome	High, narrow palate, Abnormal 5th finger morphology, Microtia, Low-set ears, Symphalangism of the...	ORPHA:1439
Lathosterolosis	Short nose, Meningocele, Anteverted nares, Postaxial hand polydactyly, High palate, Biparietal na...	ORPHA:46059
Autosomal Dominant Omodysplasia	Short nose, Rhizomelia, Short palm, Frontal bossing, Short humerus, Short 1st metacarpal, Depress...	ORPHA:93328
Meier-Gorlin Syndrome 3	Patellar hypoplasia, Talipes equinovarus, Aplasia/Hypoplasia of the patella, Microtia, Low-set ea...	OMIM:613803
Lacrimoauriculodentodigital Syndrome 2	Abnormal thumb morphology, Microtia, Hearing impairment, Duplication of thumb phalanx, Cupped ear	OMIM:620192
Holoprosencephaly 2	Semilobar holoprosencephaly, Proboscis, Alobar holoprosencephaly, Bilateral cleft palate, Median ...	OMIM:157170
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Small proximal tibial epiphyses, Broad distal phalanx of finger, Microtia, Tibial bowing, Miscarr...	ORPHA:96334
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Long nose, Short nose, Hydrocephalus, High palate, Low-set ears, Posteriorly rotated ears, Depres...	OMIM:618590
Thalidomide Embryopathy	Abnormal fibula morphology, Aplasia/hypoplasia of the femur, Triphalangeal thumb, Radial club han...	ORPHA:3312
Bazex-Dupré-Christol Syndrome	Macrotia, Abnormal finger morphology, Hypoplasia of the ear cartilage	ORPHA:113
Charge Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Microtia, Anosmia, Tracheoesophageal ...	OMIM:214800
Isolated Arrhinia	Midline defect of the nose, Microtia, Aplasia/Hypoplasia of the nasal septum, Absent nasal septal...	ORPHA:1134
Diaphanospondylodysostosis	Short nose, Hammertoe, Inguinal hernia, Low-set ears, Depressed nasal ridge, Cleft palate, Depres...	OMIM:608022
Aarskog-Scott Syndrome	Short nose, Radial deviation of finger, Inguinal hernia, Hyperextensibility of the finger joints,...	OMIM:305400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Short nose, Clinodactyly of the 5th finger, Wide nose, Tibial bowing, Low-set ears, High palate, ...	ORPHA:251028
Nablus Mask-Like Facial Syndrome	Short nose, Sandal gap, Short hallux, Small earlobe, Anteverted nares, Overfolded helix, Low-set ...	OMIM:608156
Acrofacial Dysostosis, Cincinnati Type	Microtia, Femoral bowing, Intrauterine growth retardation, Craniosynostosis, Calvarial skull defe...	OMIM:616462
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Glossitis, Microtia, High palate, Low-set ears, Tracheoesophageal fistula, Talipes equinovarus	OMIM:277380
Foxg1 Syndrome Due To 14Q12 Microdeletion	Short nose, Abnormal antihelix morphology, Protruding ear, Macroglossia, Bulbous nose, Depressed ...	ORPHA:261144
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Short nose, Anal stenosis, Anteverted nares, Low-set ears, High palate, Anal atresia, Frontal bos...	OMIM:614080
Schneckenbecken Dysplasia	Stillbirth, Short nose, Bilateral talipes equinovarus, Dumbbell-shaped long bone, Umbilical herni...	OMIM:269250
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Short nose, Death in childhood, Low insertion of columella, Anteverted nares, Unde...	OMIM:619005
Jacobsen Syndrome	Death in infancy, Intestinal malrotation, Trigonocephaly, Abnormality of the anus, Intrauterine g...	ORPHA:2308
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Rocker bottom foot, Turricephaly, Abnormal earlobe morphology, Proximal tibial and fibular fusion...	ORPHA:95699
Ruvalcaba Syndrome	Short nose, Clinodactyly of the 5th finger, Proximal placement of thumb, Inguinal hernia, Short m...	ORPHA:3121
Congenital Disorder Of Glycosylation, Type Il	Brachycephaly, Short nose, Low-set ears, Frontal bossing, Depressed nasal bridge, Villous atrophy	OMIM:608776
Marshall-Smith Syndrome	Prominent occiput, Prominent fingertip pads, Glossoptosis, Umbilical hernia, Short distal phalanx...	OMIM:602535
14Q24.1Q24.3 Microdeletion Syndrome	Short nose, Dislocated radial head, Intestinal malrotation, Prominent nasal bridge, Short thumb, ...	ORPHA:401935
Severe X-Linked Intellectual Disability, Gustavson Type	Rocker bottom foot, Short nose, Triphalangeal thumb, Abnormal pinna morphology, Calcaneovalgus de...	ORPHA:3078
Stickler Syndrome Type 1	Sensorineural hearing impairment, Short nose, Cleft palate	ORPHA:90653
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Brachycephaly, Short nose, Lambdoidal craniosynostosis, Anteverted nares,...	OMIM:615398
Marshall Syndrome	Brachycephaly, Short nose, Genu valgum, Sensorineural hearing impairment, Anteverted nares, High ...	ORPHA:560
Osteogenic Sarcoma	Osteosarcoma, Retinoblastoma	OMIM:259500
Trisomy 10P	Abnormality of the nose, Short nose, Ulnar deviated club hands, Rectovaginal fistula, Anteverted ...	ORPHA:171929
Omenn Syndrome	Hepatomegaly, Erythroderma, Hypoplasia of the thymus, Splenomegaly, Pneumonia	OMIM:603554
Temtamy Preaxial Brachydactyly Syndrome	Radial deviation of finger, Clinodactyly of the 2nd finger, Complete duplication of the middle ph...	ORPHA:363417
Skin Creases, Congenital Symmetric Circumferential, 2	Clinodactyly of the 5th finger, 2-3 toe syndactyly, Microtia, Overfolded helix, Low-set ears, Sho...	OMIM:616734
Peters Plus Syndrome	Umbilical hernia, Intrauterine growth retardation, Rhizomelia, Low-set, posteriorly rotated ears,...	ORPHA:709
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Short nose, Bilateral conductive hearing impairment, Low-set ears, Volvulus, Natal tooth, Depress...	OMIM:617802
Wolf-Hirschhorn Syndrome	Chronic otitis media, Low-set, posteriorly rotated ears, Short hallux, Microtia, Split hand, Hear...	ORPHA:280
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia	OMIM:275630
Fibrochondrogenesis 2	Short nose, Metaphyseal cupping, Anteverted nares, Frontal bossing, Metaphyseal widening	OMIM:614524
Marshall-Smith Syndrome	Short nose, Anteverted nares, Bowing of the long bones, Choanal atresia, Protruding tongue, Condu...	ORPHA:561
Agammaglobulinemia 9, Autosomal Recessive	Seborrheic dermatitis, Eczematoid dermatitis	OMIM:619693
Cardiofaciocutaneous Syndrome	Short nose, Genu valgum, Low-set, posteriorly rotated ears, Hydrocephalus, Anteverted nares, High...	ORPHA:1340
Intellectual Developmental Disorder, X-Linked 21	Short nose, Uplifted earlobe	OMIM:300143
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Enlarged metaphyses, Prominent occiput, Microtia, Femoral bowing, Bifid first metacarpal, Short m...	OMIM:210710
Donnai-Barrow Syndrome	Short nose, Sensorineural hearing impairment, Low-set ears, Omphalocele, Hearing impairment, Inte...	OMIM:222448
Biotinidase Deficiency	Hepatomegaly, Seborrheic dermatitis, Skin rash, Splenomegaly, Conjunctivitis, Recurrent skin infe...	OMIM:253260
Turnpenny-Fry Syndrome	Brachycephaly, Plagiocephaly, Microtia, Prominent nasal tip, Tapered finger, Low-set ears, High p...	OMIM:618371
Fanconi Anemia, Complementation Group F	Hypoplasia of the radius, Microtia, Conductive hearing impairment, Absent thumb, Short thumb, 2-3...	OMIM:603467
Acrocallosal Syndrome	Prominent occiput, Abnormal pinna morphology, Bifid distal phalanx of the thumb, Bifid uvula, Umb...	OMIM:200990
C Syndrome	Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Dislocated radial ...	ORPHA:1308
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Short nose, Aplasia of the distal phalanx of the 5th toe, Small earlobe, Hearing impairment, Clef...	ORPHA:364577
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Short nose, Anteverted nares, Short distal phalanx of toe, Bilateral triphalangeal thumbs, Short ...	OMIM:619356
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Acrocephalopolydactylous Dysplasia	Short nose, Hypoplasia of the small intestine, Abnormal pinna morphology, Low-set ears, Postaxial...	OMIM:200995
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Protruding tongue	DECIPHER:52
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short nose, Anteverted nares, Low-set ears, Protruding tongue, Macroglossia, Depressed nasal bridge	OMIM:242860
Musculocontractural Ehlers-Danlos Syndrome	Short nose, Low-set, posteriorly rotated ears, Inguinal hernia, Abnormal pinna morphology, High p...	ORPHA:2953
Micro Syndrome	Short nose, Low-set, posteriorly rotated ears, Anteverted nares, High palate, Macrotia, Intrauter...	ORPHA:2510
Oculodentodigital Dysplasia	Abnormal pinna morphology, Umbilical hernia, Abnormality of the ear, Clinodactyly, Cranial hypero...	ORPHA:2710
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Microtia, Low-set ears, Depressed nasal tip, Frontal bossing, Depressed nasal bridge, Intrauterin...	OMIM:620005
Cardiofaciocutaneous Syndrome 1	Short nose, Clinodactyly of the 5th finger, Hydrocephalus, Hyperextensibility of the finger joint...	OMIM:115150
Macrocephaly/Autism Syndrome	Short nose, Recurrent otitis media, High palate, Biparietal narrowing, Frontal bossing, Depressed...	OMIM:605309
Distal Duplication 5Q	Hypoplasia of the ulna, Hypoplasia of the radius, Short nose, Low-set ears, Macrotia, Absent thum...	ORPHA:96097
Dyskeratosis Congenita	Cirrhosis, Hepatomegaly, Neoplasm of the pancreas, Periodontitis, Abnormal testis morphology, Lym...	ORPHA:1775
Stuve-Wiedemann Syndrome 1	Flexion contracture of toe, Wide nasal base, Femoral bowing, Clubbing, Tibial bowing, Death in in...	OMIM:601559
Robinow Syndrome, Autosomal Dominant 3	Short nose, Anteverted nares, Low-set ears, Camptodactyly, Omphalocele, Broad thumb, Short phalan...	OMIM:616894
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Short nose, Inguinal hernia, Narrow nasal bridge, Metacarpophalangeal joint contracture, Sensorin...	ORPHA:544503
Sapho Syndrome	Arthritis, Skin rash, Neoplasm of the skeletal system, Synovitis, Palmoplantar pustulosis, Pustul...	ORPHA:793
Noonan Syndrome 3	Short nose, Anteverted nares, Low-set ears, High palate, Sagittal craniosynostosis, Frontal bossi...	OMIM:609942
Warburg Micro Syndrome 2	Brachycephaly, Clinodactyly of the 5th toe, Short nose, Clinodactyly of the 4th toe, Macrotia, Pr...	OMIM:614225
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Mixed hearing impairment, Arachnodactyly, Slender long bones with narrow diaphyses, Craniosynosto...	ORPHA:536467
Congenital Heart Defects And Skeletal Malformations Syndrome	Long nose, Short nose, Clinodactyly of the 5th finger, Sandal gap, High palate, Camptodactyly, An...	OMIM:617602
Toriello-Carey Syndrome	Short nose, Aganglionic megacolon, Abnormal pinna morphology, Low-set ears, High palate, Hearing ...	ORPHA:3338
Johanson-Blizzard Syndrome	Abnormal nostril morphology, Short nose, Delayed eruption of teeth, Sensorineural hearing impairm...	ORPHA:2315
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Anteverted nares, Long hallux, Tapered finger, Short nose	OMIM:619854
Developmental Delay With Or Without Dysmorphic Facies And Autism	Short nose, 2-3 toe cutaneous syndactyly, Clinodactyly of the 5th finger, Inguinal hernia, Anteve...	OMIM:618454
Warburg Micro Syndrome 3	Narrow palate, Short nose, Brachycephaly, Clinodactyly of the 5th finger, Macrotia	OMIM:614222
Phoar2-Enteropathy Syndrome	Seborrheic dermatitis, Acne	OMIM:614441
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Plagiocephaly, Short nose, High palate, Low-set ears, Contracture of the proximal interphalangeal...	ORPHA:457279
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Short nose, Clinodactyly, Anteverted ears, Syndactyly	OMIM:618087
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Arachnodactyly, Short nose, Frontal bossing, Thin calvarium	ORPHA:1129
Chromosome 1P36 Deletion Syndrome, Distal	Sensorineural hearing impairment, Microtia, Bifid uvula, Abnormality of the anus, Short 5th finge...	OMIM:607872
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Finger syndactyly, Anteverted nares, O...	ORPHA:1974
Letterer-Siwe Disease	Stomatitis, Seborrheic dermatitis, Jaundice, Hepatosplenomegaly	OMIM:246400
Myhre Syndrome	Short finger, Radial deviation of finger, 2-3 toe syndactyly, Microtia, Low-set ears, Camptodacty...	OMIM:139210
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
X-Linked Dominant Chondrodysplasia Punctata	Erythroderma, Abnormal lung morphology	ORPHA:35173
Combined Oxidative Phosphorylation Deficiency 25	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Syndactyly, Wide na...	OMIM:616430
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Prominent nose, Microtia, first degree, Aplasia of the inner ear, Profound senso...	OMIM:610706
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Polydactyly, Short nose, Anteverted nares, High palate, Low-set ears, Depressed nasal bridge	ORPHA:314655
Smith-Kingsmore Syndrome	Short nose, Short proximal phalanx of finger, Rhizomelia, Frontal bossing, Umbilical hernia, Shor...	OMIM:616638
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Short nose, Sensorineural hearing impairment, High palate, Hearing impairment, Mac...	OMIM:300749
Cerebrocostomandibular Syndrome	Clinodactyly of the 5th finger, Hydranencephaly, Meningocele, Short hard palate, Glossoptosis, My...	ORPHA:1393
Trisomy 8P	Clinodactyly of the 5th toe, Abnormal middle ear morphology, Clinodactyly of the 2nd finger, Apla...	ORPHA:264450
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Brain Malformations With Or Without Urinary Tract Defects	Short nose, Inguinal hernia, Anteverted nares, Low-set ears, Overfolded helix	OMIM:613735
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Recurrent skin infections, Squamous cell carcinoma of the skin	ORPHA:79396
Harel-Yoon Syndrome	Frontal bossing, Short nose	OMIM:617183
Spondylocarpotarsal Synostosis Syndrome	Short nose, Mixed hearing impairment, Tarsal synostosis, Clinodactyly of the 5th finger, Inguinal...	OMIM:272460
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Hepatic arteriovenous malformation, Stomach cancer, Hamartomatous stoma...	ORPHA:2929
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Aplasia/hypoplasia of the femur, Proximal placement of thumb, Dislocated radial head, Parietal fo...	OMIM:609945
Congenital Disorder Of Glycosylation, Type If	Erythroderma	OMIM:609180
Robinow Syndrome, Autosomal Dominant 1	Radial deviation of finger, Dislocated radial head, Broad thumb, Mesomelia, Umbilical hernia, Cli...	OMIM:180700
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Rocker bottom foot, Short metacarpal, Prominent calcaneus, Abnormality of the ear, Craniosynostos...	ORPHA:457395
Ablepharon Macrostomia Syndrome	Anteverted nares, Microtia, Underdeveloped nasal alae, Omphalocele, Hearing impairment, Camptodac...	ORPHA:920
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Short nose, Proximal placement of thumb, Anteverted nares, Abnormal pinna morphology, Short palm,...	OMIM:217980
Melanocytic Nevus Syndrome, Congenital	Short nose, Narrow nasal ridge, Anteverted nares, Broad nasal tip	OMIM:137550
5Q14.3 Microdeletion Syndrome	Toe syndactyly, Short nose, Anteverted nares	ORPHA:228384
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Short finger, Long nose, Short nose, Clinodactyly of the 5th finger, Broad toe, Small earlobe, Mi...	OMIM:619522
Xerosis And Growth Failure With Immune And Pulmonary Dysfunction Syndrome	Intrauterine growth retardation, Microtia, Hypoplastic nasal bridge	OMIM:620510
Monosomy 9Q22.3	Polydactyly, Short nose, Delayed eruption of teeth, Hydrocephalus, Low-set ears, Trigonocephaly, ...	ORPHA:77301
Branchiooculofacial Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Microtia, Malrotation of colon, In...	OMIM:113620
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis	ORPHA:79430
Tuberous Sclerosis Complex	Retinal hamartoma, Cardiac rhabdomyoma, Pancreatic endocrine tumor, Subependymal nodules, Pheochr...	ORPHA:805
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Sensorineural hearing impairment, Microtia, Hearing impairment, Aplasia of the inner ear, Promine...	ORPHA:90024
Autosomal Recessive Robinow Syndrome	Chronic otitis media, Sandal gap, Death in infancy, Broad thumb, Mesomelia, Umbilical hernia, Sho...	ORPHA:1507
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Median cleft palate, Ethmocephaly, Aplasia of the nose	OMIM:236100
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Hypoplastic helices, Anteverted nares, Abnormal pinna morphology, Microtia, Low-set ears, Antever...	OMIM:617641
Jaberi-Elahi Syndrome	Short nose, Talipes equinovarus, Low-set ears, Hand clenching, Protruding ear, Depressed nasal br...	OMIM:617988
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Short nose, Sensorineural hearing impairment, Anteverted nares, Low-set ears, Bilateral talipes e...	OMIM:612394
Nicolaides-Baraitser Syndrome	Broad distal phalanx of finger, Wide nasal base, Sandal gap, Broad 2nd toe, Short metacarpal, Pro...	OMIM:601358
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Erythroderma, Hepatic cysts	OMIM:617425
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Short nose, Inguinal hernia, Anteverted nares, High palate, Low-set ears, Broad nasal tip, Intrau...	ORPHA:357074
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Brachycephaly, Short nose, Recurrent otitis media, Inguinal hernia, Craniosynostosis, Wide nose, ...	OMIM:213980
Aspartylglucosaminuria	Chronic otitis media, Short nose, Inguinal hernia, Microtia, Abnormal morphology of ulna, Umbilic...	ORPHA:93
Bartsocas-Papas Syndrome	Short nose, Finger syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Cleft pala...	ORPHA:1234
Mietens Syndrome	Hypoplasia of the ulna, Hypoplasia of the radius, Abnormal fibula morphology, Short nose, Clinoda...	ORPHA:2557
Down Syndrome	Narrow palate, Brachycephaly, Short nose, Aganglionic megacolon, Clinodactyly of the 5th finger, ...	ORPHA:870
Lacrimoauriculodentodigital Syndrome	Mixed hearing impairment, Sensorineural hearing impairment, Abnormal pinna morphology, Microtia, ...	ORPHA:2363
Opsismodysplasia	Short nose, Rhizomelia, Metaphyseal cupping, Anteverted nares, Low-set ears, Short metacarpal, Sh...	OMIM:258480
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Short nose, Inguinal hernia, High palate, Low-set ears, Mesomelia, Macroglossia, W...	OMIM:613457
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Genu valgum, Radial deviation of finger, Sensorineural hearing impairment, Microtia, Anteverted n...	OMIM:309580
Proboscis Lateralis	Single naris, Proboscis, High palate, Choanal atresia, Holoprosencephaly	ORPHA:141099
Adenylosuccinase Deficiency	Brachycephaly, Anteverted nares, Short nose, Low-set ears	OMIM:103050
Periventricular Nodular Heterotopia 9	Clinodactyly of the 5th finger, Microtia, Prominent fingertip pads, Tapered finger, High palate, ...	OMIM:618918
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Opsismodysplasia	Abnormal metaphysis morphology, Short nose, Broad thumb, Frontal bossing, Brachydactyly, Flat occ...	ORPHA:2746
Kleefstra Syndrome Due To 9Q34 Microdeletion	Brachycephaly, Short nose, Inguinal hernia, Anteverted nares, Protruding tongue, Hearing impairme...	ORPHA:96147
Congenital Disorder Of Glycosylation, Type Iie	Short nose, Wide nose, Sensorineural hearing impairment, Low-set ears, Protruding tongue, Death i...	OMIM:608779
Oculodentodigital Dysplasia	Short nose, Joint contracture of the 5th finger, Narrow nasal bridge, Anteverted nares, 4-5 finge...	OMIM:164200
Kleefstra Syndrome	Chronic otitis media, Brachycephaly, Short nose, Advanced eruption of teeth, Delayed eruption of ...	ORPHA:261494
Transketolase Deficiency	Seborrheic dermatitis, Hepatomegaly, Uveitis, Conjunctivitis	ORPHA:488618
Schinzel-Giedion Syndrome	Tibial bowing, Umbilical hernia, Short distal phalanx of finger, Overlapping toe, Aganglionic meg...	ORPHA:798
Frontofacionasal Dysplasia	Brachycephaly, Short nose, Midline defect of the nose, Hypoplasia of the frontal bone, Bifid uvul...	OMIM:229400
Autosomal Dominant Robinow Syndrome	Umbilical hernia, Coxa valga, Inguinal hernia, Anteverted nares, Micromelia, Hearing impairment, ...	ORPHA:3107
17Q24.2 Microdeletion Syndrome	Recurrent otitis media, Upper limb undergrowth, Otosclerosis, Microtia, Broad thumb, Progressive ...	ORPHA:529962
Bannayan-Riley-Ruvalcaba Syndrome	Narrow palate, Short nose, Intestinal polyposis, Wide nose, Anteverted nares, Abnormal large inte...	ORPHA:109
Premature Aging Syndrome, Penttinen Type	Short nose, Delayed eruption of teeth, Sensorineural hearing impairment, Tibial bowing, Osteolyti...	OMIM:601812
Chromosome 3Q29 Duplication Syndrome	Short nose, Bulbous nose, Wide nasal bridge	OMIM:611936
Cerebrofaciothoracic Dysplasia	Brachycephaly, Short nose, Low-set, posteriorly rotated ears, Wide nose, Cleft palate	ORPHA:1394
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Short nose, Anteverted nares, Frontal bossing, Depressed nasal bridge, Macroglossia, Concave nasa...	OMIM:613038
Gapo Syndrome	Plagiocephaly, High, narrow palate, Short nose, Anteverted nares, Eruption failure, Frontal bossi...	OMIM:230740
Robinow Syndrome	Mixed hearing impairment, Mesomelic arm shortening, Mesomelia, Bifid distal phalanx of the thumb,...	ORPHA:97360
3Q29 Microdeletion Syndrome	Short nose, Clinodactyly of the 5th finger, Low-set ears, High palate, Macrotia, Prominent nasal ...	ORPHA:65286
Prader-Willi Syndrome Due To Translocation	Short nose, Underdeveloped nasolabial fold, Clinodactyly of the 5th finger, Narrow nasal bridge, ...	ORPHA:177907
Witteveen-Kolk Syndrome	Radial deviation of finger, Proximal placement of thumb, Sensorineural hearing impairment, Arachn...	OMIM:613406
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Short nose, Genu valgum, Flared metaphysis, Hydrocephalus, Sensorineural hearing impairment, Unde...	OMIM:616007
Carey-Fineman-Ziter Syndrome	Short nose, Anteverted nares, Glossoptosis, High palate, Cleft palate, Brachydactyly, Ulnar devia...	ORPHA:1358
Developmental And Epileptic Encephalopathy 75	Anteverted nares, Short nose, Wide nasal bridge	OMIM:618437
Down Syndrome	Brachycephaly, Aganglionic megacolon, Sandal gap, Microtia, Short middle phalanx of the 5th finge...	OMIM:190685
Microcephaly 26, Primary, Autosomal Dominant	Short nose, Protruding tongue, Trigonocephaly, Prominent nasal bridge, Wide nasal bridge	OMIM:619179
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Brachycephaly, Short nose, Cupped ear, Craniosynostosis, Tapered finger, Short foot, Camptodactyl...	OMIM:309590
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Short nose, Aganglionic megacolon, Anal stenosis, Sensorineural hearing impairment, Shortening of...	OMIM:614207
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Abnormal nostril morphology, Short nose, Genu valgum, Abnormal metacarpal morphology, Anosmia, Br...	ORPHA:1295
Kaufman Oculocerebrofacial Syndrome	Brachycephaly, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Abnormal pinna morph...	OMIM:244450
Acromesomelic Dysplasia 1	Hypoplasia of the radius, Broad finger, Short nose, Short metatarsal, Cone-shaped epiphyses of th...	OMIM:602875
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Absence of Stensen duct, Anal stenosis, Microtia, Split hand, Ectrodactyly, Choanal atresia, Depr...	OMIM:604292
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Alg9-Cdg	Brachycephaly, Short nose, Rhizomelia, Low-set, posteriorly rotated ears, Hitchhiker thumb, Flare...	ORPHA:79328
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Brachycephaly, Broad thumb, Camptodactyly of finger, Frontal bossing, Hypoplasia of the ear carti...	ORPHA:1236
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Short nose, Advanced eruption of teeth, Talipes equinovarus, Broad columella, Depressed nasal bridge	OMIM:617865
Malakoplakia	Prostate neoplasm, Neoplasm of the rectum, Skin rash, Inflammatory abnormality of the skin, Orchi...	ORPHA:556
Wiedemann-Steiner Syndrome	Short nose, Rhizomelia, Clinodactyly of the 5th finger, Low-set ears, Tapered finger, High palate...	ORPHA:319182
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Seborrheic dermatitis, Acne	OMIM:167100
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly	ORPHA:1389
Combined Pituitary Hormone Deficiencies, Genetic Forms	Polydactyly, Depressed nasal ridge, Median cleft palate, Abnormal digit morphology, Holoprosencep...	ORPHA:95494
Fontaine Progeroid Syndrome	Turricephaly, Death in infancy, Syndactyly, Umbilical hernia, Short distal phalanx of finger, Cra...	OMIM:612289
Blomstrand Lethal Chondrodysplasia	Short nose, Rhizomelia, Flared metaphysis, Metaphyseal cupping, Anteverted nares, Low-set ears, S...	ORPHA:50945
Diamond-Blackfan Anemia	Triphalangeal thumb, Cleft soft palate, Microtia, Low-set ears, High palate, Adenocarcinoma of th...	ORPHA:124
Warburg-Cinotti Syndrome	Osteolytic defects of the phalanges of the hand, Underdeveloped nasal alae, Low-set ears, High pa...	OMIM:618175
Pontocerebellar Hypoplasia, Type 10	Short nose, Low hanging columella, High palate, Tapered finger, Bulbous nose, Wide nasal bridge, ...	OMIM:615803
1P36 Deletion Syndrome	Brachycephaly, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Sensorineural h...	ORPHA:1606
Specc1L-Related Hypertelorism Syndrome	Brachycephaly, Short nose, Advanced eruption of teeth, Clinodactyly of the 5th finger, Finger syn...	ORPHA:1519
Intellectual Developmental Disorder, X-Linked 98	Long nose, Short nose, Clinodactyly of the 5th finger, Anteverted nares, Underdeveloped nasal ala...	OMIM:300912
Treacher Collins Syndrome 1	Cleft soft palate, Microtia, Choanal atresia, Atresia of the external auditory canal, Conductive ...	OMIM:154500
Yao Syndrome	Pleuritis, Arthritis, Skin rash, Pericarditis, Inflammatory abnormality of the skin, Keratoconjun...	OMIM:617321
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Seborrheic dermatitis, Arthritis, Eczematoid dermatitis	OMIM:259100
Chondrodysplasia Punctata 2, X-Linked Dominant	Erythroderma	OMIM:302960
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Hypoplasia of the ulna, Multiple carpal ossification centers, Rhizomelia, Genu valgum, Ulnar bowi...	OMIM:143095
Prolidase Deficiency	Concave nasal ridge, Short nose, High palate, Depressed nasal bridge	OMIM:170100
Coffin-Lowry Syndrome	Narrow palate, Short nose, Rectal prolapse, Inguinal hernia, Wide nose, Hyperextensibility of the...	OMIM:303600
Spondyloepiphyseal Dysplasia, Nishimura Type	Small hand, Short nose, Brachydactyly, Cone-shaped epiphyses of the phalanges of the hand	OMIM:618618
Ablepharon-Macrostomia Syndrome	Clinodactyly of the 5th finger, Microtia, third degree, Low-set ears, Short metacarpal, Camptodac...	OMIM:200110
Phosphoribosylpyrophosphate Synthetase Superactivity	Short nose, Death in childhood, Sensorineural hearing impairment, High palate, Low-set ears, Hear...	OMIM:300661
Dend Syndrome	Thickened ears, Short nose, Anteverted nares, Clinodactyly of the 4th finger	ORPHA:79134
Arterial Tortuosity Syndrome	Rocker bottom foot, Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Esophagitis, Med...	ORPHA:3342
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Abnormal antihelix morphology, Small earlobe, Microtia, Underdeveloped...	ORPHA:2036
Deeah Syndrome	Narrow palate, Short nose, Death in childhood, Prominent nasal tip, High palate, Low-set ears, De...	OMIM:619004
Craniorachischisis	Sirenomelia, Anencephaly, Myelomeningocele, Omphalocele, Anal atresia, Spinal dysraphism, Cervica...	ORPHA:63260
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Neurodegeneration With Brain Iron Accumulation 2A	Hearing impairment, Frontal bossing, Short nose	OMIM:256600
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Spondylodysplastic Ehlers-Danlos Syndrome	Subluxation of the small joints of the hand, Abnormal femoral head morphology, Abnormal finger mo...	ORPHA:536471
Peho Syndrome	Short nose, Tapered finger	OMIM:260565
Craniofacial-Deafness-Hand Syndrome	Short nose, Sensorineural hearing impairment, Ulnar deviation of the hand, Narrow naris, Depresse...	OMIM:122880
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Rocker bottom foot, Short nose, Low-set ears, High palate, Postaxial polydactyly, Long fingers, P...	OMIM:617527
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Anteverted nares, Flared nostrils, Lo...	OMIM:614756
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Short nose, High palate, Limb undergrowth, Intrauterine growth retardation, Wide nasal bridge	OMIM:618005
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Trigonocephaly, Short nose, High palate	ORPHA:329178
Sotos Syndrome	Chronic otitis media, Small cell lung carcinoma, Cholesteatoma, Cryptorchidism, Neuroblastoma, Pr...	ORPHA:821
Yunis-Varon Syndrome	Small earlobe, Microtia, Sensorineural hearing impairment, Absent thumb, Short distal phalanx of ...	OMIM:216340
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Brachycephaly, Short nose, Hiatus hernia, Low-set ears, High palate, Hearing impairment, Arachnod...	OMIM:601776
Cornelia De Lange Syndrome 6	Short nose, Clinodactyly of the 5th finger, Inguinal hernia, Anteverted nares, Low-set ears, Arac...	OMIM:620568
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Stenosis of the external auditory canal, Camptodactyly, Atresia of the external auditory canal, C...	OMIM:608257
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Long nose, Short nose, Broad phalanges of the hand, Enlarged metaphyses, Craniosynostosis, Clover...	ORPHA:508533
Oculocerebral Hypopigmentation Syndrome, Cross Type	Abnormal thumb morphology, Short nose, Inguinal hernia, Sensorineural hearing impairment, Antever...	ORPHA:2719
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Brachycephaly, Short nose, Posterior plagiocephaly, Sandal gap, Prominent nasal tip, High palate,...	OMIM:620330
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Short nose, Wide nose	OMIM:615851
Plaa-Associated Neurodevelopmental Disorder	Rocker bottom foot, Short nose, Low-set, posteriorly rotated ears, Hyperextensibility of the fing...	ORPHA:521426
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Death in early adulthood, Narrow nasal ridge, Osteolytic defects of the distal phalan...	OMIM:608612
Simpson-Golabi-Behmel Syndrome	Death in infancy, Broad thumb, Umbilical hernia, Low-set, posteriorly rotated ears, Inguinal hern...	ORPHA:373
Cog1-Cdg	Rhizomelia, Low-set, posteriorly rotated ears, Microtia, High palate, Coxa valga, Wide nasal brid...	ORPHA:263508
Refractory Celiac Disease	Inflammatory abnormality of the skin, Elevated circulating hepatic transaminase concentration, Ly...	ORPHA:398063
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Aspiration pneumonia, Splenomegaly, Micronodular cirrhosis, ...	OMIM:301072
Helsmoortel-Van Der Aa Syndrome	Sandal gap, Prominent fingertip pads, Short lower limbs, Intrauterine growth retardation, Polydac...	OMIM:615873
Peters-Plus Syndrome	Proximal placement of thumb, Short metacarpal, Syndactyly, Umbilical hernia, Intrauterine growth ...	OMIM:261540
Cadds	Intrauterine growth retardation, Sensorineural hearing impairment, Short nose	ORPHA:369942
Malan Syndrome	Short nose, Long fingers, Advanced eruption of teeth, Coxa valga	OMIM:614753
Poikiloderma With Neutropenia	Short nose, Recurrent otitis media, Underdeveloped nasal alae, Frontal bossing, Recurrent sinusit...	OMIM:604173
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Short nose, Genu valgum, Rhizomelia, Flat capital femoral epiphysis, Metaphyseal striations, Ante...	OMIM:271510
Femoral-Facial Syndrome	Aplasia/hypoplasia of the femur, Short humerus, Syndactyly, Inguinal hernia, Encephalocele, Talip...	OMIM:134780
Congenital Myopathy 22B, Severe Fetal	Short nose, Tapered toe, Low-set ears, High palate, Frontal bossing, Wide nasal bridge	OMIM:620369
Zttk Syndrome	Short nose, Intestinal atresia, Low-set ears, High palate, Intrauterine growth retardation, Front...	OMIM:617140
Brachytelephalangic Chondrodysplasia Punctata	Short nose, Mixed hearing impairment, Epiphyseal stippling of toe phalanges, Short distal phalanx...	ORPHA:79345
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Cholelithiasis, Seborrheic dermatitis, Pancreatic hypoplasia, Superficial dermal pe...	ORPHA:83617
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Short nose, Clinodactyly of the 5th finger, 2-3 toe syndactyly, Eruption failure, Tapered finger,...	ORPHA:476126
Chops Syndrome	Short nose, High, narrow palate, Anteverted nares, Hearing impairment, Brachydactyly, Thickened h...	OMIM:616368
Cornelia De Lange Syndrome	Proximal placement of thumb, Sensorineural hearing impairment, Oligodactyly, Intestinal malrotati...	ORPHA:199
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Skin rash, Chronic mucocutaneous candidiasis, Sinusitis, Recurrent pneumonia, Infla...	OMIM:102700
Craniofacial Microsomia 1	Occipital encephalocele, Genu valgum, Hydrocephalus, Branchial anomaly, Sensorineural hearing imp...	OMIM:164210
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Plagiocephaly, Anteverted nares, Microtia, Hearing impairment, Finger clinodactyly, Sagittal cran...	OMIM:620455
Trichothiodystrophy 4, Nonphotosensitive	Macrotia, Short nose, Anteverted nares	OMIM:234050
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Plagiocephaly, Mixed hearing impairment, Fibular hypoplasia, Short nose, Low-set, posteriorly rot...	ORPHA:444077
Degcags Syndrome	Sensorineural hearing impairment, Syndactyly, Intrauterine growth retardation, Craniosynostosis, ...	OMIM:619488
Ogden Syndrome	Sandal gap, Bifid nasal tip, Umbilical hernia, Intrauterine growth retardation, Narrow palate, In...	OMIM:300855
Thrombocytopenia-Absent Radius Syndrome	Pancreatic cysts, Hepatosplenomegaly, Facial capillary hemangioma, Seborrheic dermatitis	OMIM:274000
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Intrauterine growth retardation, Short uvula, Hydrocephalus, Tapered distal phalanges of finger, ...	OMIM:619475
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Brachycephaly, Short nose, Rectal prolapse, Short metatarsal, Anteverted nares, High palate, Shor...	OMIM:617157
Gitelman Syndrome	Neoplasm of the pancreas, Hashimoto thyroiditis, Parathyroid adenoma, Gout, Tubulointerstitial ne...	ORPHA:358
White-Kernohan Syndrome	Short nose, Recurrent otitis media, Rectovaginal fistula, Anteverted nares, Underdeveloped nasal ...	OMIM:619426
Coffin-Siris Syndrome	Short nose, Wide nasal base, Delayed eruption of teeth, Anteverted nares, Thick nasal alae, Heari...	ORPHA:1465
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose	ORPHA:496790
Ctcf-Related Neurodevelopmental Disorder	Short columella, Short nose, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, S...	ORPHA:363611
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Short nose, Genu valgum, Cleft soft palate, Hydrocephalus, Intestinal malrotation, Intrauterine g...	OMIM:619321
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Seborrheic dermatitis, Eczematoid dermatitis	ORPHA:369950
Simpson-Golabi-Behmel Syndrome, Type 1	Meckel diverticulum, Broad thumb, Intestinal malrotation, Trigonocephaly, Umbilical hernia, Short...	OMIM:312870
Okamoto Syndrome	Polydactyly, Short nose, Anal stenosis, Anteverted nares, Abnormal helix morphology, Underdevelop...	ORPHA:2729
Lacrimoauriculodentodigital Syndrome 1	Mixed hearing impairment, Microtia, Bilateral triphalangeal thumbs, Absent radius, Delayed erupti...	OMIM:149730
22Q11.2 Deletion Syndrome	Chronic otitis media, Abnormal lung lobation, Hypoparathyroidism, Atelectasis, Cholelithiasis, Se...	ORPHA:567
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Short nose	OMIM:266810
Igg4-Related Kidney Disease	Decreased liver function, Sclerosing cholangitis, Lymphocytoma cutis, Pericarditis, Cholecystitis...	ORPHA:449395
Sponastrime Dysplasia	Aplasia of the nasal bone, Mesomelia, Metaphyseal irregularity, Intrauterine growth retardation, ...	ORPHA:93357
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Cirrhosis, Hepatomegaly, Microvesicular hepatic steatosis, Seborrheic dermatitis, Elevated hepati...	OMIM:300868
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia, Congenital pyloric atresia	ORPHA:158684
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Polydactyly, Short 5th toe, 2-4 toe cutaneous syndactyly, Short nose, Inguinal hernia, Cleft soft...	ORPHA:268261
Omodysplasia 1	Short nose, Fibular hypoplasia, Rhizomelia, Increased fibular diameter, Anterolateral radial head...	OMIM:258315
Schinzel-Giedion Midface Retraction Syndrome	Short nose, Wide distal femoral metaphysis, Anteverted nares, Tibial bowing, Postaxial hand polyd...	OMIM:269150
Townes-Brocks Syndrome	Clinodactyly of the 5th finger, Triphalangeal thumb, Abnormal tragus morphology, Rectovaginal fis...	ORPHA:857
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Short finger, Short nose, Flared metaphysis, Triangular shaped distal phalanges of the hand, Abno...	OMIM:271665
Microlissencephaly-Micromelia Syndrome	Adducted thumb, Short nose, Micromelia	ORPHA:50810
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Anteverted nares, Bulbous nose, Wide nose	ORPHA:314647
Toriello-Lacassie-Droste Syndrome	Short nose, Aganglionic megacolon, Anteverted nares, Hearing impairment, Short palm, Brachydactyl...	ORPHA:3339
Lathosterolosis	2-4 toe cutaneous syndactyly, 2-3 toe cutaneous syndactyly, Short nose, Anteverted nares, Promine...	OMIM:607330
Khan-Khan-Katsanis Syndrome	Short nose, Sensorineural hearing impairment, Postaxial polydactyly, Frontal bossing, Intrauterin...	OMIM:618460
Geleophysic Dysplasia 1	Short nose, Anteverted nares, Irregular capital femoral epiphysis, Camptodactyly of finger, Short...	OMIM:231050
Sacral Defect With Anterior Meningocele	Myeloschisis, Meningocele, Hydrocephalus, Rectal abscess, Dermal sinus tract, Myelomeningocele, B...	OMIM:600145
Digeorge Syndrome	Recurrent otitis media, Acne, Atelectasis, Cholelithiasis, Seborrheic dermatitis, Hypoplasia of t...	OMIM:188400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short distal phalanx of finger, Short nose, Epistaxis	OMIM:277450
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Spinal neurofibroma, Hemangioma, Sinusitis, Optic nerve glioma, Schwannoma, Subcutaneous neurofib...	ORPHA:363700
Molybdenum Cofactor Deficiency, Complementation Group B	Frontal bossing, Short nose, Neonatal death	OMIM:252160
Stickler Syndrome	Chronic otitis media, Short nose, Advanced eruption of teeth, Genu valgum, Abnormal diaphysis mor...	ORPHA:828
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Short nose, 2-3 toe syndactyly, Prominent nasal tip, Brachyturricephaly, Bilateral talipes equino...	ORPHA:522077
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Short nose, Low-set ears, Hearing impairment, Arachnodactyly, Frontal bossing, Bifid uvula, Absen...	ORPHA:500150
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hydrocephalus, Short nose, Macroglossia	ORPHA:505248
Mandibuloacral Dysplasia With Type B Lipodystrophy	Short nose, Osteolytic defects of the distal phalanges of the hand, Acroosteolysis of distal phal...	ORPHA:90154
Pallister-Killian Syndrome	Intestinal malrotation, Bifid uvula, Umbilical hernia, Rhizomelia, Inguinal hernia, Stenosis of t...	OMIM:601803
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Chronic otitis media, Inguinal hernia, Esophageal varix, Frontal bossing, Depressed nasal bridge,...	OMIM:619503
1P21.3 Microdeletion Syndrome	Short nose, Long ear, Broad nasal tip	ORPHA:293948
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Eczematoid dermatitis, Keratitis, Recurrent upper respiratory tract infections, Erythroderma, Rec...	OMIM:308205
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Short nose	OMIM:252150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Short nose, Underdeveloped nasal alae, Frontal bossing, Rhinitis, Depressed nasal bridge	OMIM:305100
Williams Syndrome	Chronic otitis media, Sensorineural hearing impairment, Tracheoesophageal fistula, Umbilical hern...	ORPHA:904
Penile Agenesis	Short nose, Rectal fistula, Anal atresia, Tracheoesophageal fistula, Bilateral talipes equinovaru...	ORPHA:49
Peroxisome Biogenesis Disorder 4B	Sensorineural hearing impairment, Short nose	OMIM:614863
Williams-Beuren Syndrome	Short nose, Rectal prolapse, Recurrent otitis media, Clinodactyly of the 5th finger, Inguinal her...	OMIM:194050
Geleophysic Dysplasia 2	Short palm, Short nose, Short foot	OMIM:614185
Lipodystrophy, Familial Partial, Type 7	Narrow nasal ridge, Short nose, Tinnitus, Low-set ears	OMIM:606721

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 Hic1

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 Hic1.

No publications found that use IMPC mice or data for Hic1.

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
Hic1^{tm51229(pL1L2_GT1_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Hic1^{tm1e(KOMP)Wtsi}	Targeted, non-conditional allele	ES Cells
Hic1^{tm1a(KOMP)Wtsi}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells

Sequence

Guides

Sequence	Guide sequence	pam	chr	start	stop	strand	Genome build	gRNA Concentration	Truncated Guide	Reversed	Sanger service	Guide format	Guide source

Nucleases

Nuclease type	Nuclease class

Genotype primers

Sequence	Name

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