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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 (988 diseases)

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

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

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

Disease	Matching phenotypes	Source
Acne Inversa, Familial, 2, With Or Without Dowling-Degos Disease	Recurrent cutaneous abscess formation, Perifolliculitis, Squamous cell carcinoma, Chronic furuncu...	OMIM:613736
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Squamous cell carcinoma, Melano...	OMIM:606719
Tumor Predisposition Syndrome 1	Uveal melanoma, Renal cell carcinoma, Cutaneous melanoma, Malignant mesothelioma, Lung adenocarci...	OMIM:614327
Reticulum Cell Sarcoma	Neoplasm, Sarcoma	OMIM:267730
Disseminated Superficial Actinic Porokeratosis	Pruritus, Squamous cell carcinoma	ORPHA:79152
Myofibromatosis, Infantile, 1	Fibroma, Myofibromatosis	OMIM:228550
Tumor Predisposition Syndrome 4	Glioma, Meningioma, Breast carcinoma, Sarcoma	OMIM:609265
Epidermodysplasia Verruciformis, Susceptibility To, 3	Basal cell carcinoma, Verrucae, Squamous cell carcinoma	OMIM:618267
Colorectal Cancer, Susceptibility To, 12	Carcinoma	OMIM:615083
Ewing Sarcoma	Ewing sarcoma	OMIM:612219
Nut Midline Carcinoma	Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell carcinoma, Neoplasm, Panc...	ORPHA:443167
Li-Fraumeni Syndrome	Neoplasm of the pancreas, Adrenocortical carcinoma, Soft tissue sarcoma, Breast carcinoma, Acute ...	OMIM:151623
Lung Cancer	Alveolar cell carcinoma, Lung adenocarcinoma, Non-small cell lung carcinoma	OMIM:211980
Cheilitis Glandularis	Abnormal salivary gland morphology, Neoplasm, Squamous cell carcinoma	ORPHA:1221
Hyperkeratosis Lenticularis Perstans	Pruritus, Basal cell carcinoma, 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	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:166000
Epidermodysplasia Verruciformis	Recurrent skin infections, Seborrheic dermatitis, Pustule, Squamous cell carcinoma, Verrucae	ORPHA:302
Acquired Ichthyosis	Recurrent skin infections, Pruritus, Lymphoma, Neoplasm, Multiple myeloma, Sarcoma	ORPHA:454
Chondrosarcoma	Chondrosarcoma	OMIM:215300
Chondrosarcoma, Extraskeletal Myxoid	Chondrosarcoma	OMIM:612237
Combined Immunodeficiency Due To Dock8 Deficiency	Recurrent bacterial skin infections, Recurrent respiratory infections, Pneumonia, Atopic dermatit...	ORPHA:217390
Xeroderma Pigmentosum Variant	Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:90342
Undifferentiated Pleomorphic Sarcoma	Abnormal peritoneum morphology, Soft tissue sarcoma	ORPHA:2023
Pancreatic Cancer, Susceptibility To, 5	Melanoma, Pancreatic adenocarcinoma	OMIM:618680
Multiple Enchondromatosis, Maffucci Type	Chondrosarcoma, Hemangioma, Multiple enchondromatosis	OMIM:614569
Schöpf-Schulz-Passarge Syndrome	Ovarian neoplasm, Basal cell carcinoma, Squamous cell carcinoma	ORPHA:50944
Holoprosencephaly 5	Depressed nasal bridge, Anteverted nares, Syntelencephaly, Alobar holoprosencephaly, Hydrocephalu...	OMIM:609637
Verrucous Hemangioma	Inflammatory abnormality of the skin, Papilloma, Hemangioma	ORPHA:464318
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Endometrial carcinoma, Pancreatic adenocarcinoma, Seborrheic keratosis, Breast carcinoma, Squamou...	ORPHA:454840
Paget Disease, Extramammary	Neoplasm, Eczematoid dermatitis	OMIM:167300
Junctional Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation	ORPHA:79405
Dermatofibrosarcoma Protuberans	Fibrosarcoma, Neoplasm of the skin	ORPHA:31112
Desmoid Disease, Hereditary	Desmoid tumors, Breast carcinoma	OMIM:135290
Ichthyosis, Hystrix-Like, With Deafness	Squamous cell carcinoma, Punctate keratitis, Erythroderma	OMIM:602540
Bazex Syndrome	Pruritus, Neoplasm, Lung adenocarcinoma, Liposarcoma	ORPHA:166113
Oral Submucous Fibrosis	Oropharyngeal squamous cell carcinoma, Cheilitis	ORPHA:357154
Progressive Osseous Heteroplasia	Abnormality of the parathyroid gland, Osteoarthritis, Sarcoma	ORPHA:2762
Epidermodysplasia Verruciformis, Susceptibility To, 2	Verruca plana, Squamous cell carcinoma of the skin	OMIM:618231
Late-Onset Junctional Epidermolysis Bullosa	Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation	ORPHA:79406
Necrobiosis Lipoidica	Inflammatory abnormality of the skin, Squamous cell carcinoma	ORPHA:542592
Schopf-Schulz-Passarge Syndrome	Basal cell carcinoma, Poroma, Apocrine hidrocystoma, Squamous cell carcinoma	OMIM:224750
Hereditary Breast And/Or Ovarian Cancer Syndrome	Neoplasm of the pancreas, Breast carcinoma, Ovarian neoplasm, Melanoma, Prostate cancer	ORPHA:145
Paraneoplastic Pemphigus	B-cell lymphoma, Thymoma, Sarcoma	ORPHA:63455
Acquired Hemophagocytic Lymphohistiocytosis Associated With Malignant Disease	Acute myeloid leukemia, Elevated hepatic transaminase, B-cell lymphoma, Myelodysplasia, Hematolog...	ORPHA:158057
Acalvaria	Omphalocele, Spina bifida, Postaxial hand polydactyly, Hydrocephalus, Cleft palate, Holoprosencep...	ORPHA:945
Self-Improving Dystrophic Epidermolysis Bullosa	Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation	ORPHA:79411
Large Congenital Melanocytic Nevus	Rhabdomyosarcoma, Pruritus, Neoplasm, Neoplasm of the skin, Cutaneous melanoma, Sarcoma	ORPHA:626
Chronic Actinic Dermatitis	Late onset atopic dermatitis, Eczema, Allergic rhinitis, Pruritus, Erythroderma, Actinic keratosis	ORPHA:330064
Hyper-Ige Syndrome 2, Autosomal Recessive, With Recurrent Infections	Recurrent sinopulmonary infections, Eczema, Eosinophilic infiltration of the esophagus, Recurrent...	OMIM:243700
Maffucci Syndrome	Neoplasm of the adrenal cortex, Chondrosarcoma, Astrocytoma, Hemangiomatosis, Neoplasm of the par...	ORPHA:163634
Hartsfield Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Depressed nasal bridge, Craniosynostosis, Split...	ORPHA:2117
Pityriasis Rubra Pilaris	Eczema, Pruritus, Pustule, Neoplasm, Erythroderma	ORPHA:2897
Serrated Polyposis Syndrome	Pancreatic adenocarcinoma, Biliary tract neoplasm, Schwannoma, Bladder carcinoma, Hodgkin lymphom...	ORPHA:157798
Punctate Palmoplantar Keratoderma Type 1	Pancreatic adenocarcinoma, Brain neoplasm, Neoplasm of the skeletal system, Esophageal neoplasm, ...	ORPHA:79501
Xeroderma Pigmentosum, Complementation Group F	Seborrheic keratosis, Keratoacanthoma, Squamous cell carcinoma, Basal cell carcinoma, Neoplasm of...	OMIM:278760
Ollier Disease	Chondrosarcoma, Visceral angiomatosis, Multiple enchondromatosis, Neoplasm, Hemangioma, Sarcoma	ORPHA:296
Xeroderma Pigmentosum, Variant Type	Keratitis, Squamous cell carcinoma, Basal cell carcinoma, Conjunctivitis, Cutaneous melanoma	OMIM:278750
Pancreatic Cancer	Neoplasm of the pancreas	OMIM:260350
Mast Cell Sarcoma	Splenomegaly, Hepatomegaly, Sarcoma	ORPHA:66661
Li-Fraumeni Syndrome	Astrocytoma, Neoplasm of the central nervous system, Neoplasm, Thyroid carcinoma, Prostate cancer...	ORPHA:524
Palmoplantar Carcinoma, Multiple Self-Healing	Carcinoma, Chronic rhinitis, Squamous cell carcinoma	OMIM:615225
Papillon-Lefèvre Syndrome	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Liver abscess, Severe pe...	ORPHA:678
Liposarcoma	Sarcoma	ORPHA:69078
Fanconi Renotubular Syndrome 5	Emphysema, Lung adenocarcinoma, Pulmonary fibrosis	OMIM:618913
Vitamin K Antagonist Embryofetopathy	Brachydactyly, Anteverted nares, Choanal atresia, Depressed nasal bridge, Hearing impairment, Mye...	ORPHA:1914
Pancreatic Cancer, Susceptibility To, 1	Pancreatic adenocarcinoma	OMIM:606856
Cutaneous Neuroendocrine Carcinoma	Brain neoplasm, Lymphoid leukemia, Neoplasm of the outer ear, Basal cell carcinoma, Squamous cell...	ORPHA:79140
Immunodeficiency 51	Recurrent respiratory infections, Recurrent skin infections, Eczema, Pneumonia, Pustule, Chronic ...	OMIM:613953
Conductive Deafness-Malformed External Ear Syndrome	Abnormal pinna morphology, Abnormality of the middle ear ossicles, Sensorineural hearing impairme...	ORPHA:3216
Recurrent Respiratory Papillomatosis	Atelectasis, Abnormal lung morphology, Recurrent pneumonia, Recurrent upper respiratory tract inf...	ORPHA:60032
Pancreatic Cancer, Susceptibility To, 2	Neoplasm of the pancreas	OMIM:613347
Infantile Myofibromatosis	Benign neoplasm of the central nervous system, Neoplasm of the pancreas, Gingival fibromatosis, N...	ORPHA:2591
Craniosynostosis, Herrmann-Opitz Type	Finger syndactyly, Turricephaly, Micromelia, Craniosynostosis, Split hand, Brachycephaly, Cleft p...	ORPHA:2145
Familial Adenomatous Polyposis 3	Endometrial carcinoma, Pancreatic adenocarcinoma, Breast carcinoma, Bladder neoplasm, Basal cell ...	OMIM:616415
Mosaic Trisomy 14	Low-set, posteriorly rotated ears, Frontal bossing, Anteverted nares, Camptodactyly of finger, Pr...	ORPHA:1703
Desmoplastic Small Round Cell Tumor	Neoplasm of the pancreas, Hepatomegaly, Abnormal peritoneum morphology, Testicular neoplasm, Ovar...	ORPHA:83469
Hyperparathyroidism 2 With Jaw Tumors	Pancreatic adenocarcinoma, Hyperparathyroidism, Hurthle cell thyroid adenoma, Papillary renal cel...	OMIM:145001
Multiple Endocrine Neoplasia, Type Iv	Hyperparathyroidism, Elevated circulating growth hormone concentration, Pancreatic endocrine tumo...	OMIM:610755
Aminopterin/Methotrexate Embryofetopathy	Encephalocele, Aplasia/Hypoplasia of the thumb, Finger syndactyly, Low-set, posteriorly rotated e...	ORPHA:1908
Epidermodysplasia Verruciformis, Susceptibility To, 5	Squamous cell carcinoma of the skin, Verrucae	OMIM:618309
Localized Dystrophic Epidermolysis Bullosa, Pretibial Form	Pruritus, Squamous cell carcinoma, Gastrointestinal inflammation, Basal cell carcinoma, Cutaneous...	ORPHA:79410
Distal Monosomy 7Q36	Bulbous nose, Cleft palate, Symphalangism affecting the phalanges of the hand, Abnormal calvaria ...	ORPHA:1636
Recessive Dystrophic Epidermolysis Bullosa Inversa	Squamous cell carcinoma, Basal cell carcinoma, Cutaneous melanoma, Gastrointestinal inflammation	ORPHA:79409
Camptodactyly Syndrome, Guadalajara Type 1	Hallux valgus, Attached earlobe, Brachydactyly, Toe syndactyly, Depressed nasal bridge, Anteverte...	ORPHA:1327
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Bowing of the long bones, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Turricephaly,...	ORPHA:171839
Chromosome 3Q13.31 Deletion Syndrome	Proximal placement of thumb, Alobar holoprosencephaly, Brachycephaly, Plagiocephaly, High palate,...	OMIM:615433
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Omphalocele, Bilateral cleft palate, Short femur, Anterior encephalocele, Foot oligodactyly, Holo...	OMIM:601357
Familial Melanoma	Neoplasm of the pancreas, Melanoma, Neoplasm of the breast	ORPHA:618
Microhydranencephaly, X-Linked	Intrauterine growth retardation, Holoprosencephaly	OMIM:306990
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Actinic keratosis, Oropharyngeal squamous cell carcinoma, Breast carcinoma	OMIM:614564
Asbestos Intoxication	Atelectasis, Pleural thickening, Abnormal pulmonary interstitial morphology, Pulmonary fibrosis, ...	ORPHA:2302
Acrocephalopolydactyly	Oxycephaly, Depressed nasal ridge, Microtia, Limb undergrowth, Short nose, Brachydactyly	ORPHA:221054
Bullous Diffuse Cutaneous Mastocytosis	Pruritus, Cutaneous mastocytosis, Erythroderma	ORPHA:280785
Glioma susceptibility 9	Renal neoplasm, Astrocytoma, Glioma, Neoplasm of the lung, Leukemia	OMIM:616568
Isotretinoin Syndrome	Depressed nasal bridge, Cleft palate, Microtia, Biparietal narrowing, Spina bifida occulta, Abnor...	ORPHA:2305
Epidermolysis Bullosa Simplex 5C, With Pyloric Atresia	Anteverted nares, Underdeveloped nasal alae, Congenital pyloric atresia, Microtia, Neonatal death	OMIM:612138
Yellow Nail Syndrome	Renal neoplasm, Recurrent respiratory infections, Sinusitis, Biliary tract neoplasm, Bronchiectas...	ORPHA:662
Cutaneous Mastocytosis, Conductive Hearing Loss And Microtia	Underdeveloped nasal alae, Conductive hearing impairment, Wide nasal bridge, Short foot, Microtia...	OMIM:248910
Vissers-Bodmer Syndrome	Intrauterine growth retardation, Holoprosencephaly, Tapered finger	OMIM:619033
Lynch Syndrome 5	Neoplasm of the pancreas, Endometrial carcinoma, Ovarian neoplasm	OMIM:614350
Mandibulofacial Dysostosis-Microcephaly Syndrome	Absent tragus, Preaxial hand polydactyly, Conductive hearing impairment, Overfolded helix, Cleft ...	ORPHA:79113
Palmoplantar Keratoderma-Xx Sex Reversal-Predisposition To Squamous Cell Carcinoma Syndrome	Squamous cell carcinoma of the skin	ORPHA:85112
Genitourinary And/Or Brain Malformation Syndrome	Omphalocele, Syndactyly, Aplasia of the nasal bone, Jejunal atresia, Acrania, Ileal atresia, Prot...	OMIM:618820
Lambotte Syndrome	Preaxial foot polydactyly, Atresia of the external auditory canal, Intrauterine growth retardatio...	OMIM:245552
Monosomy 18P	Brachycephaly, Wide nasal bridge, Protruding ear, Cleft palate, Abnormal antihelix morphology, Ho...	ORPHA:1598
Thanatophoric Dysplasia Type 2	Encephalocele, Frontal bossing, Cloverleaf skull, Depressed nasal bridge, Micromelia, Hearing imp...	ORPHA:93274
Holoprosencephaly 7	Flat occiput, Alobar holoprosencephaly, Hypoplastic nasal septum, Holoprosencephaly, Parietal bos...	OMIM:610828
Exostoses, Multiple, Type Ii	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133701
Exostoses, Multiple, Type I	Chondrosarcoma, Multiple exostoses, Pelvic bone exostoses, Rib exostoses, Scapular exostoses	OMIM:133700
Microtia	Abnormal pinna morphology, Anotia, Microtia, Atresia of the external auditory canal, Holoprosence...	ORPHA:83463
Chromomycosis	Keratitis, Pruritus, Abnormal lung morphology, Squamous cell carcinoma, Keratoconjunctivitis sicc...	ORPHA:182
Chromosome 1Q41-Q42 Deletion Syndrome	Frontal bossing, Sandal gap, Depressed nasal bridge, Anteverted nares, Broad nasal tip, 3-4 finge...	OMIM:612530
Werner Syndrome	Renal neoplasm, Acral lentiginous melanoma, Pulmonary artery stenosis, Breast carcinoma, Squamous...	ORPHA:902
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Multinodular goiter, Squamous cell carcinoma	OMIM:618373
Rhabdoid Tumor	Neoplasm of the central nervous system, Renal neoplasm, Neoplasm of the liver, Sarcoma	ORPHA:69077
Catifa Syndrome	Delayed eruption of teeth, Inguinal hernia, Anteverted nares, Cleft palate, Microtia, Camptodactyly	OMIM:618761
Cleft Palate-Short Stature-Vertebral Anomalies Syndrome	Low-set, posteriorly rotated ears, Short nose, Anteverted nares, Cleft palate	ORPHA:2015
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Camptodactyly of finger, Holoprosencephaly, Low-set ears, Hydranencephaly, Intrauterine growth re...	ORPHA:2570
Ring Chromosome 8 Syndrome	Frontal bossing, Anteverted nares, Deviation of finger, Round ear, Short nose	ORPHA:1450
Apc-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the pancreas, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, Medulloblastoma, ...	ORPHA:247806
Sézary Syndrome	Hepatomegaly, Cutaneous T-cell lymphoma, Abnormal pleura morphology, Pruritus, Splenomegaly, Lymp...	ORPHA:3162
Gcgr-Related Hyperglucagonemia	Neoplasm of the pancreas, Stomatitis, Cholelithiasis, Abnormal biliary tract morphology, Glucagonoma	ORPHA:438274
Zechi-Ceide Syndrome	Wide nose, Sandal gap, Short metatarsal, Wide nasal bridge, Cleft palate, Abnormal earlobe morpho...	ORPHA:217017
Familial Adenomatous Polyposis 1	Astrocytoma, Adrenocortical carcinoma, Fibroadenoma of the breast, Medulloblastoma, Desmoid tumor...	OMIM:175100
Oculoauriculofrontonasal Syndrome	Encephalocele, Wide nose, Underdeveloped nasal alae, Bifid nasal tip, Cleft palate, Microtia, Con...	ORPHA:398156
Pemphigus Foliaceus	Psoriasiform dermatitis, Hematological neoplasm, Pruritus, Pustule, Crusting erythematous dermati...	ORPHA:79481
Triploidy	Omphalocele, Finger syndactyly, Low-set, posteriorly rotated ears, Intestinal malrotation, Hydroc...	ORPHA:3376
Agnathia-Otocephaly Complex	Wide nose, Aglossia, Cleft palate, Holoprosencephaly, Low-set ears, Conductive hearing impairment...	OMIM:202650
Huriez Syndrome	Squamous cell carcinoma of the skin	OMIM:181600
Mycosis Fungoides	Psoriasiform dermatitis, Eczema, Pruritus, Lymphoma, Neoplasm of the skin	OMIM:254400
17Q21.31 Microduplication Syndrome	Toe syndactyly, Anteverted nares, Sandal gap, High palate, Clinodactyly of the 5th finger, Short ...	ORPHA:217340
1Q41Q42 Microdeletion Syndrome	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Broad nasal tip, Submucous cl...	ORPHA:250999
Adenylosuccinate Lyase Deficiency	Flat occiput, Anteverted nares, Brachycephaly, Low-set ears, Short nose	ORPHA:46
Chilblain Lupus	Inflammatory abnormality of the skin, Skin rash, Discoid lupus rash, Chronic myelomonocytic leuke...	ORPHA:90280
Microcephaly 6, Primary, Autosomal Recessive	Bifid nasal tip, Microtia	OMIM:608393
Cebalid Syndrome	Turricephaly, Anteverted nares, Depressed nasal bridge, Posteriorly rotated ears, Abnormal pinna ...	OMIM:618774
Nabais Sa-De Vries Syndrome, Type 2	Frontal bossing, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Prominent nose...	OMIM:618829
Non-Distal Duplication 10Q	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Brachycephaly, High p...	ORPHA:1695
Even-Plus Syndrome	Bifid nasal tip, Depressed nasal ridge, Brachycephaly, Microtia, High palate, Anal atresia, Short...	OMIM:616854
Ovarian Fibrothecoma	Diffuse leiomyomatosis, Ovarian fibroma, Peritonitis, Pleural effusion, Fibrosarcoma, Abnormality...	ORPHA:314478
Pancreatic Agenesis-Holoprosencephaly Syndrome	Aplasia/Hypoplasia of the phalanges of the thumb, Abnormal pinna morphology, Abnormal external no...	ORPHA:556955
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Syndactyly, Stapes ankylosis, Anteverted nares, Intestinal malrotation, Velopharyngeal insufficie...	OMIM:614701
Mental retardation, x-linked, syndromic, Turner type	Holoprosencephaly, Tapered finger	OMIM:300706
Kid Syndrome	Recurrent cutaneous abscess formation, Recurrent bacterial skin infections, Psoriasiform dermatit...	ORPHA:477
Distal Deletion 9P	Low-set, posteriorly rotated ears, High, narrow palate, Aplasia/Hypoplasia of the earlobes, Wide ...	ORPHA:1642
Basal Cell Nevus Syndrome 2	Angiofibromas, Neurofibroma, Medulloblastoma, Basal cell carcinoma, Meningioma	OMIM:620343
Beta-Mercaptolactate Cysteine Disulfiduria	Low-set, posteriorly rotated ears, Frontal bossing, Arachnodactyly, Anteverted nares, Micromelia,...	ORPHA:1035
Milroy Disease	Angiosarcoma, Erysipelas, Hydrocele testis, Neoplasm of the skin	ORPHA:79452
Short Stature-Craniofacial Anomalies-Genital Hypoplasia Syndrome	Low-set, posteriorly rotated ears, Finger syndactyly, Frontal bossing, Arachnodactyly, Camptodact...	ORPHA:2994
17P13.3 Microduplication Syndrome	Frontal bossing, Wide nose, Inguinal hernia, High palate, Low-set ears, Clinodactyly of the 5th f...	ORPHA:217385
Microcephaly-Brain Defect-Spasticity-Hypernatremia Syndrome	Holoprosencephaly	ORPHA:2523
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia involving the nose, Absent nares, Holoprose...	ORPHA:990
Short Ulna-Dysmorphism-Hypotonia-Intellectual Disability Syndrome	Hypoplasia of the ulna, Wide nose, Flat occiput, Microtia, Low-set ears, Clinodactyly, Thick nasa...	ORPHA:357175
Hydrocephalus, Congenital, 3, With Brain Anomalies	Hydranencephaly, Hydrocephalus, Holoprosencephaly	OMIM:617967
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278740
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Keratitis, Recurrent bacterial skin infections, Keratoconjunctivitis sicca, Squamous cell carcinoma	OMIM:148210
Sweeney-Cox Syndrome	Flat occiput, Uplifted earlobe, Brachycephaly, High palate, 2-5 toe syndactyly, Median cleft pala...	OMIM:617746
Lethal Osteosclerotic Bone Dysplasia	Anteverted nares, Posteriorly rotated ears, Depressed nasal ridge, Low-set ears, Intrauterine gro...	ORPHA:1832
Meier-Gorlin Syndrome 8	Intrauterine growth retardation, Microtia, Low-set ears	OMIM:617564
Fanconi Anemia, Complementation Group P	Cryptorchidism, Squamous cell carcinoma	OMIM:613951
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Conjunctivitis, Squamous cell carcinoma	OMIM:226600
Tropical Calcific Pancreatitis	Neoplasm of the pancreas, Pancreatic calcification, Chronic pancreatitis	OMIM:608189
Autosomal Dominant Epidermolytic Ichthyosis	Conjunctival hamartoma, Erythroderma	ORPHA:312
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormal morphology of the radius, Radial club hand, Cleft palate, Holoprosencephaly, Low-set ears	ORPHA:2165
Pallister-Hall Syndrome	Anteriorly placed anus, Holoprosencephaly, Neonatal death, Distal shortening of limbs, Syndactyly...	OMIM:146510
Intellectual Developmental Disorder, Autosomal Recessive 35	Hypoplasia of the ulna, Wide nose, Flat occiput, Microtia, Low-set ears, Clinodactyly, Thick nasa...	OMIM:615162
Pfeiffer Syndrome Type 1	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge,...	ORPHA:93258
Gardner Syndrome	Neoplasm of the pancreas, Brain neoplasm, Astrocytoma, Adrenocortical carcinoma, Pilomatrixoma, M...	ORPHA:79665
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Frontal bossing, Rhizomelia, Metaphyseal cupping, Hydrocephalus, Depressed nasal ridge, Metaphyse...	OMIM:300863
Coxoauricular Syndrome	Microtia, Hearing impairment	OMIM:122780
Wilson-Turner Syndrome	Uplifted earlobe, Tapered finger, Broad nasal tip, Small hand, Short foot, Microtia	ORPHA:3459
Myeloproliferative/Lymphoproliferative Neoplasms, Familial (Multiple Types), Susceptibility To	Acute myeloid leukemia, Lymphoma, Eczema, Myelodysplasia	OMIM:616871
Parenti-Mignot Neurodevelopmental Syndrome	Frontal bossing, Posteriorly rotated ears, Prominent nasal bridge, Craniosynostosis, Cupped ear, ...	OMIM:619873
Intellectual Developmental Disorder, X-Linked 91	Small hand, Short foot, Short 5th finger, High palate, Clinodactyly, Short nose	OMIM:300577
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Frontal bossing, Anteverted nares, Posteriorly rotated ears, Hearing impairment, Bulbous nose, Cl...	OMIM:613604
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Frontal bossing, Camptodactyly of finger, Symphalangism affecting the phalanges of the hand, Duod...	ORPHA:2547
Opsoclonus-Myoclonus Syndrome	Ovarian teratoma, Small cell lung carcinoma, Breast carcinoma, Neoplasm of the lung, Melanoma, Ne...	ORPHA:1183
Adrenocortical Carcinoma	Adrenocortical carcinoma, Adrenocorticotropic hormone deficiency, Lung adenocarcinoma	ORPHA:1501
Clark-Baraitser Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Brachycephaly, Large earlobe, High palate, ...	OMIM:617752
Iniencephaly	Encephalocele, Omphalocele, Rhizomelia, Rocker bottom foot, Spina bifida, Abnormal occipital bone...	ORPHA:63259
Microtia-Anotia	Holoprosencephaly, Anotia, Microtia	OMIM:600674
Gastrointestinal Stromal Tumor	Skin rash, Gastrointestinal stroma tumor, Esophageal neoplasm, Abnormality of the liver, Sarcoma	ORPHA:44890
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Frontal bossing, Death in infancy, Rhizomelia, Metaphyseal chondrodysplasia, Abnormality of the c...	ORPHA:163966
Xy Type Gonadal Dysgenesis-Associated Anomalies Syndrome	Low-set, posteriorly rotated ears, Cleft palate, Large hands, Short columella, Microtia, Bipariet...	ORPHA:1770
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Basal cell carcinoma, Squamous cell carcinoma of the skin, Conjunctivitis, Cutaneous m...	OMIM:278720
Short-Rib Thoracic Dysplasia 12	Bowing of the legs, Lobulated tongue, Holoprosencephaly, Short palm, Neonatal death, Hamartoma of...	OMIM:269860
Endocrine-Cerebroosteodysplasia	Micromelia, Preaxial polydactyly, Tibial bowing, Holoprosencephaly, Median cleft palate, Syndacty...	OMIM:612651
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Sandal gap, Posteriorly rotated ears, Tapered finger, Small hand, Cleft palate, Short foot, Plagi...	OMIM:618089
Mandibulofacial Dysostosis, Guion-Almeida Type	Anteverted nares, Choanal atresia, Proximal placement of thumb, Preaxial hand polydactyly, Esopha...	OMIM:610536
Linear Atrophoderma Of Moulin	Pruritus, Inflammatory abnormality of the skin	ORPHA:140933
Acromesomelic Dysplasia, Grebe Type	Sarcoma	ORPHA:2098
6Q16 Microdeletion Syndrome	Abnormal ear morphology, Depressed nasal bridge, Anteverted nares, Tapered finger, Bulbous nose, ...	ORPHA:171829
Trisomy 18	Omphalocele, Low-set, posteriorly rotated ears, Choanal atresia, Spina bifida, Camptodactyly of f...	ORPHA:3380
16P13.11 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, Sensorineural hearing impairme...	ORPHA:261236
Spondylometaphyseal Dysplasia, Megarbane-Dagher-Melki Type	Frontal bossing, Wide nose, Death in infancy, Depressed nasal bridge, Anteverted nares, Micromeli...	OMIM:613320
Trichothiodystrophy 1, Photosensitive	Squamous cell carcinoma, Keratoconjunctivitis sicca, Basal cell carcinoma, Erythroderma	OMIM:601675
Acrofacial Dysostosis, Rodríguez Type	Finger syndactyly, Prominent nasal bridge, Aqueductal stenosis, Hand oligodactyly, Fibular hypopl...	ORPHA:1788
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Anteverted nares, Rocker bottom foot, Trigonocephaly, Posteriorly rotated ears, Delayed eruption ...	OMIM:618506
Distal Deletion 13Q	Encephalocele, Aplasia/Hypoplasia of the thumb, Anencephaly, Holoprosencephaly, Abnormal metacarp...	ORPHA:1590
Microtia, Hearing Impairment, And Cleft Palate	Increased incisura length, Mixed hearing impairment, Cleft palate, Stenosis of the external audit...	OMIM:612290
Diffuse Cutaneous Mastocytosis	Hepatomegaly, Pruritus, Abnormality of the spleen, Abnormality of the liver, Myeloproliferative d...	ORPHA:79456
Legius Syndrome	Acute monocytic leukemia, Non-small cell lung carcinoma, Neurofibroma, Desmoid tumors, Ovarian ne...	ORPHA:137605
Tarp Syndrome	Anteverted nares, Rocker bottom foot, Postaxial polydactyly, Posteriorly rotated ears, Hypoplasia...	OMIM:311900
Bloom Syndrome	Cryptorchidism, Lymphoma, Recurrent upper respiratory tract infections, Bronchiectasis, Squamous ...	OMIM:210900
Holoprosencephaly 11	Holoprosencephaly, Cleft palate	OMIM:614226
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 7	Portal hypertension, Myelodysplasia, Cryptorchidism, Squamous cell carcinoma of the skin, Pulmona...	OMIM:620365
Mandibulofacial Dysostosis With Alopecia	Delayed eruption of primary teeth, Cupped ear, Wide nasal bridge, Cleft palate, Protruding ear, G...	OMIM:616367
Oncogenic Osteomalacia	Neoplasm of the skeletal system, Neoplasm of head and neck, Neurofibroma, Carcinoma, Giant cell t...	ORPHA:352540
Microphthalmia, Isolated, With Coloboma 5	Holoprosencephaly	OMIM:611638
Desmoid Tumor	Fibroma, Neoplasm of the skin, Desmoid tumors	ORPHA:873
Intellectual Developmental Disorder With Macrocephaly, Seizures, And Speech Delay	Frontal bossing, Microtia	OMIM:618158
Larsen-Like Osseous Dysplasia-Short Stature Syndrome	Low-set, posteriorly rotated ears, Abnormal metacarpal morphology, Clinodactyly of the 5th finger...	ORPHA:2370
Holoprosencephaly 12 With Or Without Pancreatic Agenesis	Depressed nasal bridge, Sensorineural hearing impairment, Lobar holoprosencephaly, Prominent occi...	OMIM:618500
Femoral-Facial Syndrome	Inguinal hernia, Short femur, Abnormal fibula morphology, Coxa vara, Cleft palate, Radioulnar syn...	ORPHA:1988
Immunodeficiency 58	Recurrent cutaneous abscess formation, Recurrent respiratory infections, Eczema, Allergic rhiniti...	OMIM:618131
Difference Of Sex Development-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Genu valgum, Microtia, Severe sensorineural hearing impairment...	ORPHA:2983
Saethre-Chotzen Syndrome	Brachycephaly, Triphalangeal thumb, Conductive hearing impairment, Clinodactyly of the 5th finger...	ORPHA:794
Holoprosencephaly, Semilobar, With Craniosynostosis	Coxa valga, Lambdoidal craniosynostosis, Coronal craniosynostosis, Short distal phalanx of finger...	OMIM:601370
20P12.3 Microdeletion Syndrome	Broad hallux phalanx, Depressed nasal bridge, Wide nasal bridge, Microtia, Thickened helices, Bro...	ORPHA:261295
Dermatomyositis	Recurrent respiratory infections, Pericarditis, Pruritus, Myocarditis, Gastrointestinal stroma tu...	ORPHA:221
Hypertelorism-Microtia-Facial Clefting Syndrome	Bifid nasal tip, Microtia, Atresia of the external auditory canal, Bifid nose, Conductive hearing...	ORPHA:2213
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Anteverted nares, Hydrocephalus, Unilambdoid synostosis, Brachycephaly, Wide nasal bridge, Plagio...	OMIM:618577
Branchiootic Syndrome 1	Branchial fistula, Mixed hearing impairment, Dilatated internal auditory canal, Sensorineural hea...	OMIM:602588
Isotretinoin Embryopathy-Like Syndrome	Anotia, Hydrocephalus, Microtia, Cleft palate	OMIM:243440
49,Xxxxy Syndrome	Delayed eruption of teeth, Wide nose, Depressed nasal bridge, Coxa valga, Depressed nasal ridge, ...	ORPHA:96264
Maxillonasal Dysplasia, Binder Type	Depressed nasal bridge, Large earlobe, Short columella, Short nose, Short distal phalanx of finger	OMIM:155050
Microtia With Nasolacrimal Duct Imperforation And Eye Coloboma	Microtia	OMIM:611863
Monosomy 13Q14	Aplasia/Hypoplasia of the thumb, Finger syndactyly, Prominent nasal bridge, Trigonocephaly, Thick...	ORPHA:1587
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Hyperextensibility of the finger joints, Wide nose, Toe syndactyly, Arachnodactyly, Prominent nas...	ORPHA:505237
Diabetic Embryopathy	Low-set, posteriorly rotated ears, Frontal bossing, Hydrocephalus, Cleft palate, Spinal dysraphis...	ORPHA:1926
Intellectual Developmental Disorder, X-Linked 30	Anteverted nares, Prominent nasal bridge, Hydrocephalus, High palate, Prominent fingertip pads, S...	OMIM:300558
14Q11.2 Microdeletion Syndrome	Low-set, posteriorly rotated ears, Toe syndactyly, Depressed nasal bridge, High palate, Toe clino...	ORPHA:261120
Fetal Trimethadione Syndrome	Depressed nasal bridge, Brachycephaly, Overfolded helix, High palate, Low-set ears, Abnormal heli...	ORPHA:1913
Holoprosencephaly 3	Depressed nasal bridge, Proboscis, Abnormality of the nose, Single naris, Cleft palate, Short col...	OMIM:142945
Benign Cephalic Histiocytosis	Inflammatory abnormality of the skin, Skin rash	ORPHA:157997
Central Precocious Puberty In Male	Astrocytoma, Acne, Abnormality of the testis size, Craniopharyngioma, Pituitary microadenoma, Hyp...	ORPHA:649929
Familial Adenomatous Polyposis	Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Angiofibromas, Papillary thyroid carcinoma, Ad...	ORPHA:733
Microform Holoprosencephaly	Narrow nasal bridge, Midnasal stenosis, Anteverted nares, Choanal atresia, Cleft palate, Holopros...	ORPHA:280200
Meckel Syndrome, Type 8	Encephalocele, Occipital encephalocele, Depressed nasal ridge, Cleft palate, Polydactyly, Talipes...	OMIM:613885
Hemifacial Atrophy, Progressive	Delayed eruption of teeth, Tongue atrophy, Microtia	OMIM:141300
Holoprosencephaly-Craniosynostosis Syndrome	Craniosynostosis, Coxa valga, Brachycephaly, Plagiocephaly, Holoprosencephaly, Clinodactyly of th...	ORPHA:2163
Omenn Syndrome	Hepatomegaly, Pneumonia, Pruritus, Splenomegaly, Lymphoma, Thyroiditis, Erythroderma	ORPHA:39041
Rothmund-Thomson Syndrome	Skin rash, Myelodysplasia, Squamous cell carcinoma, Basal cell carcinoma, Melanoma, Neoplasm of t...	ORPHA:2909
Retinoblastoma	Lymphoma, Retinoblastoma, Leukemia, Ewing sarcoma, Pinealoma, Osteosarcoma	OMIM:180200
Pallister-Hall-Like Syndrome	Occipital encephalocele, Death in infancy, Toe syndactyly, Depressed nasal bridge, Micromelia, Po...	OMIM:241800
Cowden Syndrome 1	Goiter, Fibroadenoma of the breast, Thyroiditis, Breast carcinoma, Carcinoma, Hamartomatous polyp...	OMIM:158350
Intellectual Developmental Disorder, Autosomal Dominant 43	Attached earlobe, Anteverted nares, Prominent nasal bridge, Tapered finger, Wide nasal bridge, Mi...	OMIM:616977
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Frontal bossing, Turricephaly, Aganglionic megacolon, Tapered finger, Hydrocephalus, Wide nasal b...	OMIM:613603
Weiss-Kruszka Syndrome	Anteverted nares, Proximal placement of thumb, Hearing impairment, Cupped ear, Overfolded helix, ...	OMIM:618619
Developmental And Epileptic Encephalopathy 73	Narrow nasal bridge, Inguinal hernia, Sensorineural hearing impairment, Short nose, Midface retru...	OMIM:618379
Schilbach-Rott Syndrome	Posteriorly rotated ears, Prominent nose, Long nose, 2-3 toe cutaneous syndactyly, Submucous clef...	OMIM:164220
Ring Chromosome 21 Syndrome	Syndactyly, Clinodactyly, Small hand, Holoprosencephaly	ORPHA:1445
Pfeiffer Syndrome Type 2	Aqueductal stenosis, Deviation of the thumb, High palate, Finger syndactyly, Broad hallux phalanx...	ORPHA:93259
Hypertelorism, Microtia, Facial Clefting Syndrome	Broad nasal tip, 2-3 toe syndactyly, Cleft palate, Microtia, Short 5th finger, Bifid nose, Atresi...	OMIM:239800
Phocomelia-Ectrodactyly-Deafness-Sinus Arrhythmia Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Short humerus, Abnormal nasal morphology...	ORPHA:2878
Perlman Syndrome	Inguinal hernia, Anteverted nares, Posteriorly rotated ears, High, narrow palate, Wide nasal brid...	ORPHA:2849
Distal Deletion 17Q	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Micromelia, Abnormal thumb mo...	ORPHA:1597
Pleuropulmonary Blastoma	Medulloblastoma, Pleuropulmonary blastoma, Rhabdomyosarcoma	OMIM:601200
Hemifacial Microsomia With Radial Defects	Cleft palate, Microtia, Atresia of the external auditory canal, Triphalangeal thumb, Conductive h...	OMIM:141400
Contractures-Developmental Delay-Pierre Robin Syndrome	Inguinal hernia, Arachnodactyly, Overlapping toe, Underdeveloped nasal alae, Metatarsus adductus,...	ORPHA:436003
Edinburgh Malformation Syndrome	Frontal bossing, Anteverted nares, Choanal atresia, Long fingers, Hydrocephalus, Ulnar deviation ...	ORPHA:1895
3-Hydroxyisobutyric Aciduria	Intrauterine growth retardation, Microtia	ORPHA:939
Pseudotrisomy 13 Syndrome	Encephalocele, Omphalocele, Posteriorly rotated ears, Postaxial hand polydactyly, Hydrocephalus, ...	OMIM:264480
Tetraploidy	Radial club hand, Cleft palate, Biparietal narrowing, Hypoplasia of the ear cartilage, Intrauteri...	ORPHA:3305
Fg Syndrome Type 1	Prominent nose, High palate, Finger syndactyly, Malrotation of colon, Clinodactyly of the 2nd fin...	ORPHA:93932
Steinfeld Syndrome	Hypoplasia of the ulna, Aplasia/Hypoplasia of the thumb, Abnormal pinna morphology, Hearing impai...	OMIM:184705
Short Stature And Facioauriculothoracic Malformations	Cupped ear, Cleft palate, Microtia, High palate, Low-set ears, Overfolded helix	OMIM:609654
Kerion Celsi	Recurrent cutaneous abscess formation, Inflammatory abnormality of the skin, Recurrent skin infec...	ORPHA:499
Hydrocephalus With Stenosis Of The Aqueduct Of Sylvius	Aqueductal stenosis, Hydrocephalus, Holoprosencephaly, Adducted thumb	ORPHA:2182
20Q11.2 Microduplication Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Tri...	ORPHA:363659
Intellectual Disability-Hypoplastic Corpus Callosum-Preauricular Tag Syndrome	Death in infancy, Camptodactyly of finger, Protruding ear, Intrauterine growth retardation, Short...	ORPHA:1495
Muscle-Eye-Brain Disease	Hydrocephalus, Meningocele, Holoprosencephaly	ORPHA:588
Potocki-Shaffer Syndrome	2-5 finger cutaneous syndactyly, Turricephaly, Underdeveloped nasal alae, Parietal foramina, Wide...	OMIM:601224
Humeroradial Synostosis	Humeroradial synostosis, Brachycephaly, Wide nasal bridge, Microtia, Small earlobe	OMIM:236400
Rhiny	Short nose, Anteverted nares, Inguinal hernia	OMIM:180360
Cancer-Associated Retinopathy	Neoplasm of the pancreas, Pancreatic adenocarcinoma, Testicular neoplasm, Hematological neoplasm,...	ORPHA:71505
Pelvis-Shoulder Dysplasia	Syndactyly, Abnormal pinna morphology, Camptodactyly of finger, Spina bifida, Aplasia/Hypoplasia ...	ORPHA:2839
Holoprosencephaly	Flat occiput, Depressed nasal ridge, Absent nares, Holoprosencephaly, Encephalocele, Aplasia/Hypo...	ORPHA:2162
Familial Reactive Perforating Collagenosis	Perifolliculitis, Inflammatory abnormality of the skin, Maculopapular exanthema, Pruritus, Crusti...	ORPHA:79147
Chromosome 6Q11-Q14 Deletion Syndrome	Inguinal hernia, Prominent nasal bridge, Broad nasal tip, High palate, Talipes equinovarus, Low-s...	OMIM:613544
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, Genital Anomalies, And Immunodeficiency	Metaphyseal dysplasia, Frontal bossing, Posteriorly rotated ears, Long nose, Microtia, Low-set ea...	OMIM:618336
Familial Colorectal Cancer Type X	Benign neoplasm of the central nervous system, Renal neoplasm, Pancreatic adenocarcinoma, Gliobla...	ORPHA:440437
Postaxial Acrofacial Dysostosis	Low-set, posteriorly rotated ears, Hypoplasia of the ulna, Finger syndactyly, Camptodactyly of fi...	ORPHA:246
Ring Chromosome 7 Syndrome	Small earlobe, Anteverted nares, Prominent nasal bridge, Prominent crus of helix, Small hand, Wid...	ORPHA:1449
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Underdeveloped nasal alae, Hearing abnormali...	ORPHA:2031
Holoprosencephaly 14	Frontal bossing, Anteverted nares, Proboscis, Alobar holoprosencephaly, Aqueductal stenosis, Hydr...	OMIM:619895
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Frontal bossing, Thick nasal alae, Posteriorly rotated ears, Hydrocephalus, Low-set ears, Short n...	ORPHA:163961
Attenuated Familial Adenomatous Polyposis	Astrocytoma, Uterine leiomyoma, Papilloma, Thyroid adenoma, Adenocarcinoma of the colon, Fibroma	ORPHA:220460
Hereditary Leiomyomatosis And Renal Cell Cancer	Cutaneous leiomyosarcoma, Multiple cutaneous leiomyomas, Uterine leiomyoma, Uterine leiomyosarcom...	OMIM:150800
Johnson Neuroectodermal Syndrome	Choanal atresia, Preaxial hand polydactyly, Bulbous nose, Anosmia, Cleft palate, Protruding ear, ...	ORPHA:2316
19P13.3 Microduplication Syndrome	Posteriorly rotated ears, Underdeveloped nasal alae, Prominent nose, Long fingers, Cleft palate, ...	ORPHA:447980
Diamond-Blackfan Anemia 14 With Mandibulofacial Dysostosis	Cleft palate, Microtia, Atresia of the external auditory canal, Conductive hearing impairment, Mi...	OMIM:300946
Jacobsen Syndrome	Flat occiput, Depressed nasal bridge, Anteverted nares, Trigonocephaly, Pyloric stenosis, Hydroce...	OMIM:147791
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Frontal bossing, Inguinal hernia, Arachnodactyly, Brachycephaly, Protruding ear, Bilateral talipe...	OMIM:615539
Congenital Disorder Of Glycosylation, Type Iig	Glossoptosis, High palate, Conductive hearing impairment, Rhizomelia, Anteverted nares, Wide nasa...	OMIM:611209
Distal Duplication 18Q	Low-set, posteriorly rotated ears, Anteverted nares, Prominent nasal bridge, Choanal atresia, Ara...	ORPHA:1716
Hennekam Lymphangiectasia-Lymphedema Syndrome 2	Syndactyly, Depressed nasal bridge, Microtia, Camptodactyly, Intestinal lymphangiectasia, Hearing...	OMIM:616006
Pierpont Syndrome	Wide nose, Posteriorly rotated ears, Broad nasal tip, Short toe, Brachycephaly, Short foot, Large...	OMIM:602342
Verloove Vanhorick-Brubakk Syndrome	Finger syndactyly, Tarsal synostosis, Abnormal femur morphology, Cleft palate, Microtia, Atresia ...	ORPHA:3429
Meckel Syndrome 14	Occipital encephalocele, Syndactyly, Bowing of the long bones, Anteverted nares, Postaxial polyda...	OMIM:619879
Classic Mycosis Fungoides	Hepatomegaly, Skin rash, Eczema, Cutaneous T-cell lymphoma, Pruritus, Splenomegaly, Lymphoma, Neo...	ORPHA:2584
Palmoplantar Hyperkeratosis With Squamous Cell Carcinoma Of Skin And 46,Xx Sex Reversal	Laryngeal carcinoma, Decreased testicular size, Carcinoma	OMIM:610644
Intellectual Developmental Disorder, Fra12A Type	Recurrent lower respiratory tract infections, Erythroderma	OMIM:136630
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Oropharyngeal squamous cell carcinoma, Eczema, Esophageal c...	ORPHA:391487
Peutz-Jeghers Syndrome	Neoplasm of the nose, Pancreatic adenocarcinoma, Esophageal neoplasm, Biliary tract neoplasm, Enl...	ORPHA:2869
Neurodevelopmental Disorder With Speech Impairment And Dysmorphic Facies	Wide nose, Anteverted nares, Craniosynostosis, Microtia, Low-set ears, Hearing impairment	OMIM:619056
Chromosome 13Q14 Deletion Syndrome	Frontal bossing, Inguinal hernia, Overlapping toe, Anteverted ears, Bulbous nose, High palate, Ho...	OMIM:613884
Holoprosencephaly-Postaxial Polydactyly Syndrome	Encephalocele, Omphalocele, Low-set, posteriorly rotated ears, Intestinal malrotation, Postaxial ...	ORPHA:2166
Hereditary Acrokeratotic Poikiloderma	Eczema, Pustule, Squamous cell carcinoma, Keratoconjunctivitis, Transitional cell carcinoma of th...	ORPHA:2907
Lambert-Eaton Myasthenic Syndrome	Small cell lung carcinoma, Keratoconjunctivitis sicca	ORPHA:43393
Oculocutaneous Albinism Type 1B	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79434
Robinow Syndrome, Autosomal Recessive 2	Omphalocele, Frontal bossing, Midface retrusion, Anteverted nares, Broad hallux, Sandal gap, Broa...	OMIM:618529
Neurodevelopmental Disorder With Seizures, Spasticity, And Complete Or Partial Agenesis Of The Corpus Callosum	Frontal bossing, Tapered finger, Wide nasal bridge, Narrow palate, Microtia, Short nose, Macrotia...	OMIM:620250
Distal Triplication 15Q	Arachnodactyly, Craniosynostosis, Sensorineural hearing impairment, Cupped ear, Hydrocephalus, Mi...	ORPHA:314588
Branchiootorenal Syndrome 1	Branchial cyst, Branchial fistula, Mixed hearing impairment, Intestinal malrotation, Dilatated in...	OMIM:113650
Acitretin/Etretinate Embryopathy	Aplasia/hypoplasia involving bones of the lower limbs, Anteverted nares, Aplasia/hypoplasia invol...	ORPHA:40366
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Absent radius, Hearing abnormality, Cupp...	ORPHA:1352
Peripheral Primitive Neuroectodermal Tumor	Neoplasm of the pancreas, Brain neoplasm, Pruritus, Jaundice, Spinal cord tumor, Ovarian neoplasm...	ORPHA:370348
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Recurrent skin infections, Squamous cell carcinoma	ORPHA:89842
Osteopathia Striata With Cranial Sclerosis	Osteopathia striata, High palate, Conductive hearing impairment, Clinodactyly of the 5th finger, ...	OMIM:300373
Von Hippel-Lindau Syndrome	Neoplasm of the pancreas, Pancreatic cysts, Pulmonary capillary hemangiomatosis, Spinal hemangiob...	OMIM:193300
Maxillonasal Dysplasia	Depressed nasal bridge, Aplasia/Hypoplasia of the distal phalanges of the toes, Depressed nasal r...	ORPHA:1248
Coxoauricular Syndrome	Micromelia, Abnormal femur morphology, Microtia, Atresia of the external auditory canal, Hearing ...	ORPHA:1508
Kindler Epidermolysis Bullosa	Recurrent skin infections, Cheilitis, Neoplasm of the urethra, Squamous cell carcinoma, Inflammat...	ORPHA:2908
Seckel Syndrome 7	Prominent nose, Abnormal carpal morphology, Microtia, Clinodactyly of the 5th finger, Intrauterin...	OMIM:614851
Isotretinoin-Like Syndrome	Inguinal hernia, Anteverted nares, Hydrocephalus, Aplasia/Hypoplasia of the inner ear, Cleft pala...	ORPHA:2306
Hartsfield Syndrome	Syndactyly, Wide nose, Posteriorly rotated ears, Craniosynostosis, Alobar holoprosencephaly, Clef...	OMIM:615465
Craniodigital-Intellectual Disability Syndrome	Narrow nasal bridge, Finger syndactyly, Brachycephaly, Short nose, Spina bifida occulta	ORPHA:1514
Spondyloepimetaphyseal Dysplasia, Faden-Alkuraya Type	Frontal bossing, Short metacarpal, Short fourth metatarsal, Depressed nasal bridge, Overlapping t...	OMIM:616723
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Fibrosarcoma, Osteomyelitis leading to amputation due to slow healing fractures, Histiocytoma, Os...	OMIM:112250
Isolated Exencephaly	Depressed nasal bridge, Abnormal calvaria morphology, Holoprosencephaly, Low-set ears, Hypoplasia...	ORPHA:563612
Diamond-Blackfan Anemia 15 With Mandibulofacial Dysostosis	Mixed hearing impairment, Posteriorly rotated ears, Sensorineural hearing impairment, Cleft palat...	OMIM:606164
Lynch Syndrome	Benign neoplasm of the central nervous system, Glioblastoma multiforme, Pancreatic adenocarcinoma...	ORPHA:144
Autosomal Recessive Omodysplasia	Abnormal morphology of the radius, Frontal bossing, Depressed nasal bridge, Anteverted nares, Mic...	ORPHA:93329
Ohdo Syndrome	Depressed nasal bridge, Anteverted nares, Wide nasal bridge, Stenosis of the external auditory ca...	OMIM:249620
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 3	Depressed nasal bridge, Polydactyly, Low-set ears, Conductive hearing impairment, Intrauterine gr...	OMIM:616910
Meier-Gorlin Syndrome 6	Frontal bossing, Anteverted nares, Depressed nasal bridge, Sandal gap, Underdeveloped nasal alae,...	OMIM:616835
Atelis Syndrome 1	Glue ear, High palate, Microtia, Prominent nose	OMIM:620184
Pfeiffer Syndrome Type 3	Aqueductal stenosis, High palate, Finger syndactyly, Broad hallux phalanx, Depressed nasal bridge...	ORPHA:93260
X-Linked Intellectual Disability, Van Esch Type	Clinodactyly of the 5th finger, Intrauterine growth retardation, Coronal craniosynostosis, Microtia	ORPHA:163976
Meige Disease	Angiosarcoma, Recurrent bacterial skin infections, Pleural effusion, Recurrent skin infections	ORPHA:90186
Buratti-Harel Syndrome	Broad hallux, Posteriorly rotated ears, Velopharyngeal insufficiency, Submucous cleft hard palate...	OMIM:619314
Rothmund-Thomson Syndrome Type 1	Myelodysplasia, Cryptorchidism, Squamous cell carcinoma, Melanoma, Basal cell carcinoma, Neoplasm...	ORPHA:221008
Solitary Median Maxillary Central Incisor	Abnormal nasopharynx morphology, Midnasal stenosis, Choanal atresia, Anosmia, Pyriform aperture s...	OMIM:147250
Facial Paresis, Hereditary Congenital, 3	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Sensorineural hearing impairm...	OMIM:614744
Cousin Syndrome	Clinodactyly of the 5th finger, Dislocated radial head, Rhizomelia, Humeroradial synostosis, 2-3 ...	OMIM:260660
Pfeiffer Syndrome	Syndactyly, Finger syndactyly, Shortening of all middle phalanges of the fingers, Depressed nasal...	OMIM:101600
Dyskeratosis Congenita, X-Linked	Acute myeloid leukemia, Oropharyngeal squamous cell carcinoma, Myelodysplasia, Cryptorchidism, Ho...	OMIM:305000
Raine Syndrome	Micromelia, Brachycephaly, Protruding ear, Choanal stenosis, High palate, Neonatal death, Long ha...	OMIM:259775
Intellectual Developmental Disorder, Autosomal Dominant 1	Frontal bossing, Sandal gap, Prominent nose, Bulbous nose, Cupped ear, Depressed nasal ridge, Bra...	OMIM:156200
Immunodeficiency 110 With Lymphoproliferation	Recurrent skin infections, Lymphoproliferative disorder, Recurrent pneumonia, Recurrent upper res...	OMIM:614868
Noonan Syndrome-Like Disorder With Loose Anagen Hair	Low-set, posteriorly rotated ears, Anteverted nares, Hearing impairment, Hydrocephalus, Short nos...	ORPHA:2701
Phosphoribosylaminoimidazole Carboxylase Deficiency	Anteverted nares, Choanal atresia, Depressed nasal bridge, Esophageal atresia, Tracheoesophageal ...	OMIM:619859
Holoprosencephaly 4	Median cleft lip and palate, Depressed nasal bridge, Absent nasal septal cartilage, Depressed nas...	OMIM:142946
Absent Eyebrows And Eyelashes With Mental Retardation	Encephalocele, Short nose, Convex nasal ridge	OMIM:200130
Tropical Pancreatitis	Pancreatic adenocarcinoma, Jaundice, Chronic calcifying pancreatitis, Abnormal pancreatic duct mo...	ORPHA:103918
Halperin-Birk Syndrome	Inguinal hernia, Hearing impairment, Semilobar holoprosencephaly, High palate, Talipes equinovaru...	OMIM:618651
Chung-Jansen Syndrome	Anteverted nares, Tapered finger, Large earlobe, High palate, Clinodactyly of the 5th finger, Sho...	OMIM:617991
Rothmund-Thomson Syndrome Type 2	Myelodysplasia, Cryptorchidism, Lymphoma, Squamous cell carcinoma, Melanoma, Basal cell carcinoma...	ORPHA:221016
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Encephalocele, Finger syndactyly, Broad hallux phalanx, Flat occiput, Posteriorly rotated ears, P...	ORPHA:2211
Lowry-Maclean Syndrome	Inguinal hernia, Choanal atresia, Craniosynostosis, Delayed eruption of primary teeth, High, narr...	ORPHA:2409
Fanconi Anemia, Complementation Group L	Absent thumb, Absent radius, Esophageal atresia, Hydrocephalus, Wide nasal bridge, Tracheoesophag...	OMIM:614083
Nager Syndrome	Low-set, posteriorly rotated ears, Aplasia/Hypoplasia of the thumb, Abnormal nasal morphology, Hy...	ORPHA:245
Fatty Acyl-Coa Reductase 1 Deficiency	Short nose, Macrotia, Depressed nasal bridge	ORPHA:438178
Au-Kline Syndrome	Overlapping toe, Prominent nasal bridge, Wide nasal ridge, Underdeveloped nasal alae, Bifid nasal...	OMIM:616580
Holoprosencephaly 9	Depressed nasal bridge, Postaxial hand polydactyly, Hydrocephalus, Single naris, Cleft palate, Bi...	OMIM:610829
Retinoblastoma	Glioma, Rhabdomyosarcoma, Lymphoma, Pineoblastoma, Uveitis, Leiomyosarcoma, Melanoma, Retinoblast...	ORPHA:790
Monosomy 22	Aplasia of the thymus, Seborrheic dermatitis, Schwannoma, Hepatosplenomegaly, Gonadal neoplasm, M...	ORPHA:96123
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Slender nose, Brachycephaly, Low-set ears, Intrauterine growth retardation, Short nose, Macrotia	OMIM:615419
Prominent Glabella-Microcephaly-Hypogenitalism Syndrome	Posteriorly rotated ears, Prominent nasal bridge, Camptodactyly of finger, Underdeveloped nasal a...	ORPHA:2083
Trigonocephaly 1	Omphalocele, Craniosynostosis, High, narrow palate, Wide nasal bridge, Trigonocephaly, Short nose...	OMIM:190440
Chondrodysplasia With Joint Dislocations, Gpapp Type	Short metacarpal, Hitchhiker thumb, Hearing impairment, Capitate-hamate fusion, Short toe, Wide n...	OMIM:614078
Opitz-Kaveggia Syndrome	Prominent nose, Anteriorly placed anus, Prominent fingertip pads, Simple ear, Syndactyly, Broad h...	OMIM:305450
Microtia-Eye Coloboma-Imperforation Of The Nasolacrimal Duct Syndrome	Microtia	ORPHA:139450
Xeroderma Pigmentosum, Complementation Group A	Keratitis, Melanoma, Squamous cell carcinoma of the skin, Conjunctivitis	OMIM:278700
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Syndactyly, Depressed nasal bridge, Bulbous nose, Clinodactyly, Wide nasal bridge, Brachycephaly,...	ORPHA:369891
Pyoderma Gangrenosum	Myositis, Myelodysplasia, Pustule, Inflammation of the large intestine, Rheumatoid arthritis, Mye...	ORPHA:48104
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Brachycephaly, Prominent antitragus, Dislocated radial head, Rhizomelia, Depressed nasal bridge, ...	OMIM:245600
Xeroderma Pigmentosum, Complementation Group B	Basal cell carcinoma, Neoplasm, Squamous cell carcinoma of the skin, Cutaneous melanoma	OMIM:610651
Joubert Syndrome 15	Preaxial polydactyly, Exencephaly	OMIM:614464
Oculoauriculovertebral Spectrum With Radial Defects	Aplasia/Hypoplasia of the thumb, Abnormality of the middle ear ossicles, Preaxial hand polydactyl...	ORPHA:2549
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta	Chronic oral candidiasis, Pneumonia, Recurrent pneumonia, Hepatitis, Hepatosplenomegaly, Otitis m...	ORPHA:169160
Trichothiodystrophy	Congenital exfoliative erythroderma, Eczema, Cryptorchidism, Recurrent bronchopulmonary infection...	ORPHA:33364
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Un...	OMIM:615866
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Anteverted nares, Sandal gap, Posteriorly rotated ears, Conductive hearing impairment, Short toe,...	OMIM:617877
46,Xy Sex Reversal 4	Anteverted nares, Prominent nose, Sensorineural hearing impairment, Depressed nasal ridge, Cleft ...	OMIM:154230
Terminal Osseous Dysplasia	Fibroma	OMIM:300244
Mosaic Variegated Aneuploidy Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Low-set, posteriorly rotated ears, Stomach canc...	ORPHA:1052
Teebi Hypertelorism Syndrome 2	Delayed eruption of teeth, Syndactyly, Depressed nasal bridge, Broad nasal tip, Cleft palate, Hig...	OMIM:619736
Intrauterine Growth Retardation, Metaphyseal Dysplasia, Adrenal Hypoplasia Congenita, And Genital Anomalies	Metaphyseal dysplasia, Depressed nasal bridge, Craniosynostosis, Low-set ears, Intrauterine growt...	OMIM:614732
Congenital Neuronal Ceroid Lipofuscinosis	Low-set ears, Split hand, Wide nasal bridge, Aplasia/Hypoplasia of the external ear	ORPHA:168486
Familial Pancreatic Carcinoma	Elevated hepatic transaminase, Pancreatic adenocarcinoma, Jaundice, Breast carcinoma, Hepatosplen...	ORPHA:1333
Drug Reaction With Eosinophilia And Systemic Symptoms	Acute hepatic failure, Elevated hepatic transaminase, Skin rash, Pustule, Myocarditis, Hepatitis,...	ORPHA:139402
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Depressed nasal ridge, Short nose, Anteverted nares	ORPHA:1355
Congenital Disorder Of Deglycosylation 2	Ulnar deviation of the hand, Sandal gap, Hamartoma of tongue, Macroglossia, Short columella, Bila...	OMIM:619775
Aymé-Gripp Syndrome	Inguinal hernia, Depressed nasal bridge, Rocker bottom foot, Craniosynostosis, Tapered finger, Po...	ORPHA:1272
Microphthalmia With Limb Anomalies	2-3 toe cutaneous syndactyly, Tibial bowing, Camptodactyly of 2nd-5th fingers, Foot oligodactyly,...	OMIM:206920
Ohdo Syndrome, X-Linked	Inguinal hernia, Ulnar deviation of the hand, Depressed nasal bridge, Overlapping toe, Posteriorl...	OMIM:300895
Cowden Syndrome 7	Breast carcinoma, Trichilemmoma, Papillary thyroid carcinoma, Papilloma, Hemangioma, Ductal carci...	OMIM:616858
Phocomelia-Ectrodactyly, Ear Malformation, Deafness, And Sinus Arrhythmia	Aplasia/Hypoplasia of the thumb, Short humerus, Absent radius, Ulnar bowing, Split hand, Mesomeli...	OMIM:171480
Xeroderma Pigmentosum-Cockayne Syndrome Complex	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Skin rash	ORPHA:220295
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Esophageal atresia, Hydrocephalus, Tracheoesophageal fistula, Holoprosencephaly, Hearing impairment	ORPHA:77298
Tuberous Sclerosis 2	Chordoma, Astrocytoma, Angiofibromas, Retinal hamartoma, Ependymoma, Gingival fibromatosis, Subep...	OMIM:613254
Oculocutaneous Albinism Type 1A	Basal cell carcinoma, Squamous cell carcinoma of the skin	ORPHA:79431
Gomez-Lopez-Hernandez Syndrome	Turricephaly, Anteverted nares, Posteriorly rotated ears, Craniosynostosis, Brachycephaly, Skull ...	OMIM:601853
Pachydermoperiostosis	Hepatomegaly, Osteomyelitis, Acne, Elevated circulating growth hormone concentration, Seborrheic ...	ORPHA:2796
Rothmund-Thomson Syndrome, Type 2	Cryptorchidism, Squamous cell carcinoma, Basal cell carcinoma, Annular pancreas, Osteosarcoma	OMIM:268400
Faciodigitogenital Syndrome, Autosomal Recessive	Syndactyly, Inguinal hernia, Anteverted nares, Prominent nasal bridge, Posteriorly rotated ears, ...	OMIM:227330
Lymphedema-Distichiasis Syndrome	Recurrent skin infections, Tubulointerstitial nephritis, Conjunctivitis, Abnormality of the pulmo...	ORPHA:33001
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Frontal bossing, Natal tooth, Depressed nasal bridge, Abnormal pinna morphology, Postaxial polyda...	OMIM:617925
Distal Xq28 Microduplication Syndrome	Epistaxis, Broad nasal tip, Metatarsus adductus, Recurrent upper respiratory tract infections, Mi...	ORPHA:293939
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Aganglionic megacolon, Posteriorly rotated ears, Hearing impairment, Tapered finger, Broad nasal ...	OMIM:239300
Bazex-Dupre-Christol Syndrome	Eczema, Atopic dermatitis, Basal cell carcinoma, Trichoepithelioma, Acne inversa	OMIM:301845
Frontofacionasal Dysplasia	Encephalocele, Depressed nasal bridge, Choanal atresia, Bifid nasal tip, Depressed nasal ridge, B...	ORPHA:1791
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Anteverted nares, 2-3 toe syndactyly, Lobulated tongue, Low-set ears, Cli...	OMIM:613443
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Cleft palate, Femoral bowing, Anotia, Microtia, Flared lower limb metaphysis, Ma...	OMIM:616462
Chromosome 16P13.3 Duplication Syndrome	Proximal placement of thumb, Protruding ear, Bifid uvula, Depressed nasal bridge, Anteverted nare...	OMIM:613458
Cerebrooculonasal Syndrome	Encephalocele, Frontal bossing, Anteverted nares, Prominent nasal bridge, Proboscis, Postaxial po...	OMIM:605627
Alkuraya-Kucinskas Syndrome	Depressed nasal bridge, Anteverted nares, Overlapping toe, Posteriorly rotated ears, Hydrocephalu...	OMIM:617822
Non-Distal Duplication 13Q	Arachnodactyly, Postaxial hand polydactyly, Aplasia/Hypoplasia of the earlobes, Abnormal antiheli...	ORPHA:1702
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Depressed nasal bridge, Rocker bottom foot, Hearing impairment, Tapered finger, Posteriorly rotat...	OMIM:601353
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Frontal bossing, Depressed nasal bridge, Sandal gap, Posteriorly rotated ears, Tapered finger, Bu...	OMIM:618430
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Fibroma, Recurrent pneumonia, Hepatosplenomegaly	OMIM:619750
3C Syndrome	Finger syndactyly, Inguinal hernia, Frontal bossing, Depressed nasal bridge, Intestinal malrotati...	ORPHA:7
Parietal Foramina With Cleidocranial Dysplasia	Parietal foramina, Microtia	OMIM:168550
Auriculocondylar Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hamartoma of tongue, Cleft helix, E...	ORPHA:137888
Smith-Lemli-Opitz Syndrome	Proximal placement of thumb, Biparietal narrowing, Holoprosencephaly, Advanced eruption of teeth,...	ORPHA:818
Vacterl With Hydrocephalus	Inguinal hernia, Microtia, third degree, Spina bifida, Aqueductal stenosis, Esophageal atresia, H...	ORPHA:3412
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Omphalocele, Aplasia/Hypoplasia of the thumb, Hypoplasia of the ulna, Abnormality of the humerus,...	ORPHA:3186
Mismatch Repair Cancer Syndrome 1	Glioblastoma multiforme, Astrocytoma, Non-Hodgkin lymphoma, Rhabdomyosarcoma, Oligodendroglioma, ...	OMIM:276300
Indolent Systemic Mastocytosis	Hepatomegaly, Maculopapular exanthema, Skin rash, Hematological neoplasm, Pruritus, Splenomegaly	ORPHA:98848
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Posteriorly rotated ears, Anteverted nares, Wide nasal bridge, Microtia, Recurrent otitis media	OMIM:602562
Hypomandibular Faciocranial Dysostosis	Death in infancy, Anteverted nares, Aplasia/Hypoplasia of the tongue, Craniosynostosis, Brachycep...	ORPHA:1790
Trisomy 12P	Turricephaly, Wide nasal bridge, Cleft palate, Abnormal antihelix morphology, Large hands, Low-se...	ORPHA:1699
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Depressed nasal bridge, Posteriorly rotated ears, Coxa valga, Hydrocephalus, Plagiocephaly, Hamme...	OMIM:619833
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Short femur, Anteverted nares, Fractured radius, Posteriorly rotated ears, Decreased fibular diam...	OMIM:616897
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Tapered finger, Coxa valga, P...	OMIM:301040
Van Maldergem Syndrome 2	Short fourth metatarsal, Ulnar deviation of the hand, Depressed nasal bridge, Inguinal hernia, Se...	OMIM:615546
Kagami-Ogata Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Coxa val...	OMIM:608149
Spondyloepiphyseal Dysplasia-Brachydactyly-Speech Disorder Syndrome	Depressed nasal bridge, Anteverted nares, Abnormal metatarsal morphology, Rhizo-meso-acromelic li...	ORPHA:163654
Holoprosencephaly 13, X-Linked	Hearing impairment, Alobar holoprosencephaly, Submucous cleft hard palate, Cleft palate, Semiloba...	OMIM:301043
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Encephalocele, Frontal bossing, Death in infancy, Hydrocephalus, Microtia, Low-set ears, Death in...	OMIM:614643
Saethre-Chotzen Syndrome	Long nose, Brachycephaly, Partial duplication of the distal phalanx of the 3rd finger, Clinodacty...	OMIM:101400
Odontochondrodysplasia	Delayed eruption of teeth, Frontal bossing, Bowing of the long bones, Death in infancy, Depressed...	ORPHA:166272
Atelosteogenesis, Type I	Short metatarsal, Tibial bowing, Neonatal death, Encephalocele, Short metacarpal, Radial bowing, ...	OMIM:108720
Hyperphosphatasia With Impaired Intellectual Development Syndrome 4	Broad nasal tip, Wide nasal bridge, Cleft palate, Shortening of all distal phalanges of the finge...	OMIM:615716
Mitochondrial Complex Iii Deficiency, Nuclear Type 11	Recurrent upper respiratory tract infections, Microtia	OMIM:620137
Otopalatodigital Syndrome, Type I	Abnormality of the fifth metatarsal bone, Femoral bowing, Conductive hearing impairment, Broad di...	OMIM:311300
Monosomy 9P	Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Choanal atresia, Abnormali...	ORPHA:261112
Glutamine Deficiency, Congenital	Depressed nasal bridge, Anteverted nares, Micromelia, Wide nasal bridge, Low-set ears, Camptodact...	OMIM:610015
Spondyloepiphyseal Dysplasia-Brachydactyly And Distinctive Speech	Short metacarpal, Midface retrusion, Depressed nasal bridge, Anteverted nares, Single interphalan...	OMIM:611717
Phocomelia, Schinzel Type	Bowing of the long bones, Radial bowing, Micromelia, Aplasia of the ulna, High, narrow palate, Ab...	ORPHA:2879
Antley-Bixler Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Turricephaly, Arachnodactyly, Anteverted nare...	ORPHA:83
Congenital Erythropoietic Porphyria	Recurrent bacterial skin infections, Pruritus, Splenomegaly, Keratoconjunctivitis, Scleritis, Squ...	ORPHA:79277
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Neonatal death, Esophageal stenosis, Microtia, Congenital pyloric atresia	OMIM:619817
Pterygium Colli, Isolated	Short nose, Protruding ear	OMIM:177990
Intellectual Developmental Disorder With Cardiac Defects And Dysmorphic Facies	Long toe, Omphalocele, Depressed nasal bridge, Anteverted nares, Overlapping toe, Prominent nose,...	OMIM:618316
Desmosterolosis	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Intestinal malrotatio...	ORPHA:35107
Tetrasomy 5P	Anteverted nares, Overlapping toe, Short hallux, Posteriorly rotated ears, Long fingers, Hydrocep...	ORPHA:3309
Craniofacial-Deafness-Hand Syndrome	Aplasia/Hypoplasia involving the nose, Depressed nasal bridge, Camptodactyly of finger, Sensorine...	ORPHA:1529
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Branchial cyst, Choanal stenosis, Severe sensorineural hearing impairment, Conductive hearing imp...	OMIM:620186
Acrodysostosis	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Abnormal morphology of the r...	ORPHA:950
Charge Syndrome	Aqueductal stenosis, Abnormal tibia morphology, Hypoplasia of the semicircular canal, Holoprosenc...	ORPHA:138
Erythroderma, Lethal Congenital	Congenital exfoliative erythroderma	OMIM:227090
Pallister-Hall Syndrome	Depressed nasal ridge, Holoprosencephaly, Bifid uvula, Low-set, posteriorly rotated ears, Mesoaxi...	ORPHA:672
Developmental And Epileptic Encephalopathy 85 With Or Without Midline Brain Defects	Anteverted nares, Choanal atresia, Broad hallux, Tapered finger, 1-2 toe syndactyly, Posteriorly ...	OMIM:301044
Fetal Hydantoin Syndrome	Low-set, posteriorly rotated ears, Abnormal pinna morphology, Hearing abnormality, Depressed nasa...	ORPHA:1912
Achondrogenesis	Frontal bossing, Inguinal hernia, Anteverted nares, Micromelia, Umbilical hernia, Short nose	ORPHA:932
Townes-Brocks Syndrome 1	Short metatarsal, Holoprosencephaly, Triphalangeal thumb, 2-4 finger syndactyly, 2-3 toe syndacty...	OMIM:107480
Acromicric Dysplasia	Short metacarpal, Anteverted nares, Bulbous nose, Small hand, Abnormal femur morphology, Short pa...	ORPHA:969
Otopalatodigital Syndrome Type 2	Preaxial polydactyly, Glossoptosis, Short palm, Synostosis of carpal bones, Encephalocele, Depres...	ORPHA:90652
Meier-Gorlin Syndrome 2	Abnormal pinna morphology, Underdeveloped nasal alae, Patellar aplasia, Microtia, Dolichocephaly,...	OMIM:613800
Netherton Syndrome	Recurrent respiratory infections, Recurrent skin infections, Allergic rhinitis, Eczema, Chronic r...	OMIM:256500
Nabais Sa-De Vries Syndrome, Type 1	Depressed nasal bridge, Prominent nasal bridge, Thickened helices, Bulbous nose, Brachycephaly, C...	OMIM:618828
Hirschsprung Disease, Cardiac Defects, And Autonomic Dysfunction	Aganglionic megacolon, Prominent nasal bridge, Posteriorly rotated ears, Tapered finger, Bulbous ...	OMIM:613870
Dermotrichic Syndrome	Frontal bossing, Aganglionic megacolon, Depressed nasal bridge, Short nose, Macrotia	ORPHA:99688
Recon Progeroid Syndrome	Attached earlobe, Anteverted nares, Prominent nasal bridge, Proximal placement of thumb, Narrow n...	OMIM:620370
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome	Long toe, Hyperextensibility of the finger joints, Posteriorly rotated ears, Choanal atresia, Roc...	ORPHA:163979
Pde4D Haploinsufficiency Syndrome	Prominent nose, Short metatarsal, Brachycephaly, Bilateral coxa valga, Short phalanx of finger, B...	ORPHA:439822
Macrocephaly-Intellectual Disability-Autism Syndrome	Intestinal polyposis, Frontal bossing, Depressed nasal bridge, Preaxial hand polydactyly, Foot po...	ORPHA:210548
Van Maldergem Syndrome 1	Short fourth metatarsal, Sensorineural hearing impairment, Wide nasal bridge, Anteriorly placed a...	OMIM:601390
Tumor Predisposition Syndrome 2	Acute myeloid leukemia, Schwannoma, Uveal melanoma, Juvenile type ovarian granulosa cell tumor, D...	OMIM:619975
16P11.2P12.2 Microdeletion Syndrome	Frontal bossing, Toe syndactyly, Anteverted nares, Camptodactyly of finger, Proximal placement of...	ORPHA:261211
Periventricular Nodular Heterotopia 7	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, 1-4 toe sy...	OMIM:617201
Familial Multinodular Goiter	Alveolar rhabdomyosarcoma, Pleuropulmonary blastoma, Pilomatrixoma, Multinodular goiter, Ovarian ...	ORPHA:276399
Treacher Collins Syndrome 3	Conductive hearing impairment, Microtia, Cleft palate	OMIM:248390
Paganini-Miozzo Syndrome	Microtia, Posteriorly rotated ears, Low-set ears	OMIM:301025
Scalp-Ear-Nipple Syndrome	Underdeveloped antitragus, Anteverted ears, Protruding ear, Clinodactyly of the 5th finger, Small...	OMIM:181270
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Narrow nasal bridge, Flat occiput, Anteverted nares, Overlapping toe, Wide nasal bridge, Plagioce...	OMIM:619383
Familial Hemophagocytic Lymphohistiocytosis	Elevated hepatic transaminase, Hepatomegaly, Skin rash, Maculopapular exanthema, Splenomegaly, Ja...	ORPHA:540
Mycophenolate Mofetil Embryopathy	Hydrocephalus, Tracheoesophageal fistula, Anotia, Microtia, Foot polydactyly, Bifid nose, Short p...	ORPHA:268249
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Tapered finger, Long fingers, Wide nasal bridge, 2-3 toe syndactyly, Brachycephaly, High palate, ...	OMIM:218000
Distal Deletion 10Q	Prominent nose, 2-3 toe cutaneous syndactyly, Short metatarsal, Brachycephaly, Protruding ear, Hi...	ORPHA:96148
Rhabdomyosarcoma, Embryonal, 1	Embryonal rhabdomyosarcoma	OMIM:268210
Diabetes Insipidus, Neurohypophyseal	Wide nose, Short nose	OMIM:125700
Immunodeficiency 85 And Autoimmunity	Recurrent respiratory infections, Eczema, Oligoarthritis, Pulmonary fibrosis, Erythroderma	OMIM:619510
Ichthyosis, Congenital, Autosomal Recessive 7	Erythroderma	OMIM:615022
Rhabdomyosarcoma 2	Alveolar rhabdomyosarcoma	OMIM:268220
Burn-Mckeown Syndrome	Short nose, Wide nasal bridge, Prominent nasal bridge, Bilateral choanal atresia	ORPHA:1200
Congenital Ichthyosiform Erythroderma	Keratitis, Erythroderma, Pruritus	ORPHA:79394
Galloway-Mowat Syndrome	Camptodactyly of finger, Hiatus hernia, Aqueductal stenosis, Hypoplasia of the ear cartilage, Int...	ORPHA:2065
Axial Mesodermal Dysplasia Spectrum	Omphalocele, Hydrocephalus, Tracheoesophageal fistula, Microtia, Abnormal intestine morphology, A...	ORPHA:1834
Autosomal Dominant Severe Congenital Neutropenia	Acute myeloid leukemia, Recurrent sinopulmonary infections, Recurrent skin infections, Pneumonia,...	ORPHA:486
Hyperparathyroidism-Jaw Tumor Syndrome	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:99880
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Coxa valga, Brachycephaly, Cleft palat...	ORPHA:163649
Ichthyosis Prematurity Syndrome	Pruritus, Allergic rhinitis, Erythroderma	OMIM:608649
Meier-Gorlin Syndrome 5	Small earlobe, Irregular femoral epiphysis, Patellar aplasia, Submucous cleft hard palate, Microt...	OMIM:613805
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 2	Depressed nasal bridge, Anteverted nares, Recurrent upper respiratory tract infections, High pala...	OMIM:614069
Treacher-Collins Syndrome	Encephalocele, Branchial fistula, Frontal bossing, Choanal atresia, Wide nasal bridge, Cleft pala...	ORPHA:861
Dyskeratosis Congenita, Digenic	Melanoma, Basal cell carcinoma, Squamous cell carcinoma of the skin, Decreased testicular size	OMIM:620040
Proximal 16P11.2 Microduplication Syndrome	Frontal bossing, Microtia, Arachnodactyly	ORPHA:370079
Orofaciodigital Syndrome Xiv	Occipital encephalocele, Natal tooth, Broad hallux, Posteriorly rotated ears, Hamartoma of tongue...	OMIM:615948
Alopecia-Intellectual Disability Syndrome 4	Bilateral cryptorchidism, Erythroderma	OMIM:618840
Ayme-Gripp Syndrome	Depressed nasal bridge, Posteriorly rotated ears, Hearing impairment, Tapered finger, Sensorineur...	OMIM:601088
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Sensorineu...	ORPHA:2143
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Low-set, posteriorly rotated ears, 2-5 finger syndactyly, Prominent nasal bridge, Camptodactyly o...	ORPHA:468631
Rhombencephalosynapsis	Low-set, posteriorly rotated ears, Finger syndactyly, Anteverted nares, Aganglionic megacolon, Es...	ORPHA:59315
Mullegama-Klein-Martinez Syndrome	Frontal bossing, Depressed nasal bridge, Prominent nose, Bulbous nose, Sensorineural hearing impa...	OMIM:301022
Inflammatory Skin And Bowel Disease, Neonatal, 1	Pustule, Blepharitis, Erythroderma	OMIM:614328
Smith-Lemli-Opitz Syndrome	Micromelia, Proximal placement of thumb, 2-3 toe cutaneous syndactyly, Holoprosencephaly, Bifid u...	OMIM:270400
Van Esch-O'Driscoll Syndrome	Depressed nasal bridge, Esophageal atresia, Tracheoesophageal fistula, Protruding ear, Microtia, ...	OMIM:301030
C Syndrome	Omphalocele, Short metacarpal, Toe syndactyly, Anteverted nares, Posteriorly rotated ears, Microm...	OMIM:211750
Meier-Gorlin Syndrome 7	Bowing of the legs, Anteriorly placed anus, Copper beaten skull, High palate, Dislocated radial h...	OMIM:617063
Erythrokeratodermia Variabilis Et Progressiva 1	Erythroderma	OMIM:133200
16P12.1P12.3 Triplication Syndrome	Hallux valgus, Tapered finger, High, narrow palate, Bulbous nose, 2-3 toe syndactyly, Large earlo...	ORPHA:485405
Multiple Endocrine Neoplasia Type 4	Hyperparathyroidism, Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary prolactin cel...	ORPHA:276152
Desmosterolosis	Frontal bossing, Hypoplastic nasal bridge, Rhizomelia, Anteverted nares, Posteriorly rotated ears...	OMIM:602398
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent respiratory infections, Psoriasiform dermatitis, Eczema, Thyroiditis, Erythroderma, Hep...	OMIM:606367
Parathyroid Carcinoma	Pancreatic adenocarcinoma, Renal hamartoma, Testicular neoplasm, Fibroma, Primary hyperparathyroi...	ORPHA:143
Grfoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Neopla...	ORPHA:97261
Spinocerebellar Ataxia-Dysmorphism Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Dolichocephaly, Short nose, Spina bifida occ...	ORPHA:1185
Neurodevelopmental Disorder With Spasticity And Poor Growth	Flat occiput, Anteverted nares, Prominent nose, High, narrow palate, Large earlobe, Microtia, Low...	OMIM:618076
Miller-Dieker Syndrome	Clinodactyly of the 5th finger, Omphalocele, Short nose, Anteverted nares	ORPHA:531
Epidermolytic Hyperkeratosis 1	Erythroderma	OMIM:113800
Peutz-Jeghers Syndrome	Neoplasm of the pancreas, Bile duct polyp, Biliary tract abnormality, Breast carcinoma, Hamartoma...	OMIM:175200
Fryns Microphthalmia Syndrome	Neural tube defect, Macrotia, Abnormality of the ear, Bilateral cleft lip and palate	OMIM:600776
Severe Generalized Junctional Epidermolysis Bullosa	Recurrent skin infections, Pneumonia, Pneumothorax, Squamous cell carcinoma, Gastrointestinal inf...	ORPHA:79404
21Q22.11Q22.12 Microdeletion Syndrome	Short proximal phalanx of the 5th finger, Anteverted nares, Short proximal phalanx of the 2nd fin...	ORPHA:261323
Acrodysostosis 2 With Or Without Hormone Resistance	Short metacarpal, Depressed nasal bridge, Anteverted nares, Short metatarsal, Advanced ossificati...	OMIM:614613
Robinow Syndrome, Autosomal Dominant 2	Conductive hearing impairment, Depressed nasal bridge, Anteverted nares, Cleft soft palate, Mesom...	OMIM:616331
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Recurrent skin infections, Glomerulonephritis, Squamous cell carcinoma, Gastrointestinal inflamma...	ORPHA:79408
Verheij Syndrome	Branchial cyst, Anteverted nares, Broad nasal tip, Clinodactyly, Wide nasal bridge, Cleft palate,...	OMIM:615583
Lamellar Ichthyosis	Chronic otitis media, Recurrent respiratory infections, Pruritus, Erythroderma	ORPHA:313
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Desmoid tumors, Adenocarcinoma of the colon	ORPHA:247798
Netherton Syndrome	Recurrent respiratory infections, Skin rash, Eczema, Erythroderma, Emphysema	ORPHA:634
Severe Combined Immunodeficiency Due To Dclre1C Deficiency	Skin rash, Verrucae, Recurrent aphthous stomatitis, Otitis media, Chronic oral candidiasis, Recur...	ORPHA:275
Achondrogenesis Type 1B	Frontal bossing, Anteverted nares, Micromelia, Short foot, Talipes equinovarus, Umbilical hernia,...	ORPHA:93298
Trisomy 20P	Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Frontal bossing, Anteverte...	ORPHA:261318
Waardenburg Syndrome Type 1	Aganglionic megacolon, Spina bifida, Underdeveloped nasal alae, Congenital sensorineural hearing ...	ORPHA:894
Codas Syndrome	Delayed eruption of teeth, Short metacarpal, Depressed nasal bridge, Anteverted nares, Sensorineu...	ORPHA:1458
Peho-Like Syndrome	Short nose, Tapered finger	OMIM:617507
Ichthyosis With Confetti	Pruritus, Hypoplastic nipples, Erythroderma	OMIM:609165
Cenani-Lenz Syndrome	Hypoplasia of the ulna, Finger syndactyly, Toe syndactyly, Frontal bossing, Micromelia, Hearing i...	ORPHA:3258
Idiopathic Hypereosinophilic Syndrome	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Eczema, Cholangitis, Myelody...	ORPHA:3260
Meckel Syndrome	Encephalocele, Low-set, posteriorly rotated ears, Bowing of the long bones, Aplasia/Hypoplasia of...	ORPHA:564
Intellectual Developmental Disorder With Language Impairment And With Or Without Autistic Features	Short nose, Broad nasal tip	OMIM:613670
Arachnoid Cyst	Encephalocele, Abnormal occipital bone morphology, Hydrocephalus, Vertigo, Holoprosencephaly	ORPHA:2356
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Anal stenosis, Broad hallux, Aganglionic megacolon, Broad nasal tip, Wide nasal bridge, Shortenin...	OMIM:614749
Microcephalic Osteodysplastic Primordial Dwarfism, Type Ii	Brachydactyly, Radial bowing, Pseudoepiphyses of the metacarpals, Prominent nasal bridge, Promine...	OMIM:210720
Ectodermal Dysplasia-Intellectual Disability-Central Nervous System Malformation Syndrome	Frontal bossing, Inguinal hernia, Sandal gap, Depressed nasal bridge, Hydrocephalus, Cleft palate...	ORPHA:1812
Peho Syndrome	Anteverted nares, Tapered finger, External ear malformation, Hydrocephalus, Biparietal narrowing,...	ORPHA:2836
Bainbridge-Ropers Syndrome	Contracture of the proximal interphalangeal joint of the 4th finger, Choanal stenosis, High palat...	OMIM:615485
Spondylometaphyseal Dysplasia With Corneal Dystrophy	Coarse metaphyseal trabecularization, Depressed nasal bridge, Anteverted nares, Metaphyseal widen...	OMIM:618961
Subcorneal Pustular Dermatosis	Pruritus, Pustule, Multiple myeloma, Rheumatoid arthritis	ORPHA:48377
Ichthyosis, Congenital, Autosomal Recessive 10	Erythroderma	OMIM:615024
Baller-Gerold Syndrome	Narrow nasal bridge, Aplasia/Hypoplasia of the thumb, Bowing of the long bones, Frontal bossing, ...	ORPHA:1225
Diamond-Blackfan Anemia 10	Posteriorly rotated ears, Choanal atresia, Cleft palate, Microtia, Atresia of the external audito...	OMIM:613309
Fibrochondrogenesis 1	Omphalocele, Frontal bossing, Depressed nasal bridge, Anteverted nares, Dumbbell-shaped long bone...	OMIM:228520
Peeling Skin Syndrome 1	Pruritus, Erythroderma	OMIM:270300
Fetal Valproate Spectrum Disorder	Omphalocele, Short nose, Depressed nasal ridge	ORPHA:1906
Epidermolytic Hyperkeratosis 2	Erythroderma	OMIM:620150
Achondrogenesis Type 1A	Frontal bossing, Anteverted nares, Micromelia, Short foot, Short palm, Umbilical hernia, Short nose	ORPHA:93299
Short Stature, Onychodysplasia, Facial Dysmorphism, And Hypotrichosis	Short metacarpal, Brachydactyly, Rhizomelia, Posteriorly rotated ears, Broad nasal tip, Prominent...	OMIM:614813
9q subtelomeric deletion syndrome	Short nose, Anteverted nares, Midface retrusion, Protruding tongue	DECIPHER:52
Rhizomelic Dysplasia, Patterson-Lowry Type	Short humerus, Wide nose, Short metacarpal, Rhizomelia, Depressed nasal ridge, Coxa vara, Genu va...	ORPHA:2831
Ppoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97278
Desbuquois Dysplasia 1	Triangular shaped phalanges of the hand, Metaphyseal widening, Short metatarsal, Coxa vara, Genu ...	OMIM:251450
Neurofibromatosis Type 1	Astrocytoma, Cryptorchidism, Chronic myelogenous leukemia, Multiple lipomas, Neoplasm, Pheochromo...	ORPHA:636
Microcephalic Primordial Dwarfism, Dauber Type	Prominent nose, Abnormal carpal morphology, Limb undergrowth, Microtia, Severe intrauterine growt...	ORPHA:319675
Tetraamelia-Multiple Malformations Syndrome	Aplasia/Hypoplasia involving the nose, Microtia, Hydrocephalus, Anal atresia	ORPHA:3301
Gaucher Disease, Perinatal Lethal	Depressed nasal bridge, Anteverted nares, Microtia, Low-set ears, Neonatal death, Intrauterine gr...	OMIM:608013
Adnp Syndrome	Inguinal hernia, Depressed nasal bridge, Broad hallux, Sandal gap, Abnormal toe morphology, Recur...	ORPHA:404448
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Cleft palate, Microtia, Recurrent otitis media, Intrauterine growth retardation, Abnormality of t...	ORPHA:2728
Orofaciodigital Syndrome Type 4	Micromelia, High, narrow palate, Depressed nasal ridge, Abnormality of the ear, Conductive hearin...	ORPHA:2753
Meier-Gorlin Syndrome 1	Cutaneous finger syndactyly, High palate, Short palm, Clinodactyly of the 5th finger, Genu varum,...	OMIM:224690
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Frontal bossing, Overlapping toe, Bulbous nose, Wide nasal bridge, Cleft palate, Protruding ear, ...	OMIM:618571
Intellectual Disability-Severe Speech Delay-Mild Dysmorphism Syndrome	Broad nasal tip, Recurrent upper respiratory tract infections, Abnormality of the ear, Prominent ...	ORPHA:391372
Hennekam-Beemer Syndrome	Wide nose, Camptodactyly of finger, Long nose, Conductive hearing impairment, Wide nasal bridge, ...	ORPHA:2135
Intellectual Disability-Strabismus Syndrome	Depressed nasal bridge, Rocker bottom foot, Narrow nasal ridge, Prominent nose, Plagiocephaly, Hi...	ORPHA:363528
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Depressed nasal bridge, Sandal gap, Tapered finger, Bulbous nose, Wide nasal bridge, 2-3 toe synd...	OMIM:617061
Vexas Syndrome	Inflammatory abnormality of the skin, Neutrophilic infiltration of the skin, Chondritis of pinna,...	OMIM:301054
Down Syndrome	Depressed nasal bridge, Sandal gap, Aganglionic megacolon, Protruding tongue, Conductive hearing ...	ORPHA:870
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Recurrent respiratory infections, Tracheobronchial leiomyomatosis, Diffuse leiomyomatosis, Vulvar...	ORPHA:1018
Fg Syndrome 5	Trigonocephaly, Depressed nasal bridge, Anteverted nares, Short nose	OMIM:300581
Leukocyte Adhesion Deficiency Type Ii	Depressed nasal bridge, Overlapping toe, Protruding tongue, Conductive hearing impairment, Depres...	ORPHA:99843
Candidiasis, Familial, 8	Chronic oral candidiasis, Blepharitis, Cheilitis, Seborrheic dermatitis	OMIM:615527
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Glomerulonephritis, Eczema, Hepatitis, Arthritis, Erythroderma	OMIM:304790
Hand-Foot-Genital Syndrome	Shortening of all middle phalanges of the fingers, Miscarriage, Short hallux, Proximal placement ...	ORPHA:2438
Glucagonoma	Neoplasm of the pancreas, Hepatomegaly, Skin rash, Elevated circulating growth hormone concentrat...	ORPHA:97280
Fetal Alcohol Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Cleft palate, Biparietal narrowing, Intraute...	ORPHA:1915
Acrofacial Dysostosis, Catania Type	Low-set, posteriorly rotated ears, Finger syndactyly, Inguinal hernia, Small hand, Short palm, Cl...	ORPHA:1786
Marshall Syndrome	Clinodactyly of the 5th finger, Small proximal tibial epiphyses, Bifid uvula, Radial bowing, Depr...	OMIM:154780
Von Hippel-Lindau Disease	Neoplasm of the pancreas, Pancreatic islet cell adenoma, Pancreatic cysts, Myocarditis, Pancreati...	ORPHA:892
14Q24.1Q24.3 Microdeletion Syndrome	Brachydactyly, Prominent nasal bridge, Intestinal malrotation, Short thumb, Wide nasal bridge, Sh...	ORPHA:401935
Townes-Brocks Syndrome 2	Cupped ear, Microtia, Rectovaginal fistula, Overfolded helix, Spina bifida occulta, Anal atresia	OMIM:617466
Menke-Hennekam Syndrome 1	Short ear, Depressed nasal ridge, Protruding ear, Cutaneous syndactyly of toes, High palate, Clin...	OMIM:618332
Cardiomyopathy, Dilated, With Hypergonadotropic Hypogonadism	Microtia, Narrow nose, Finger joint contracture	OMIM:212112
Epilepsy, Focal, With Speech Disorder And With Or Without Impaired Intellectual Development	Short nose	OMIM:245570
Dyskeratosis Congenita, Autosomal Dominant 1	Myelodysplasia, Hepatic necrosis, Interstitial pneumonitis, Squamous cell carcinoma of the skin, ...	OMIM:127550
Schneckenbecken Dysplasia	Dumbbell-shaped long bone, Advanced ossification of carpal bones, Advanced tarsal ossification, C...	OMIM:269250
Congenital Lethal Erythroderma	Congenital exfoliative erythroderma	ORPHA:1954
Baraitser-Winter Syndrome 1	Anteverted nares, Duplication of phalanx of hallux, Sensorineural hearing impairment, Wide nasal ...	OMIM:243310
Cutis Laxa, Autosomal Recessive, Type Iia	Frontal bossing, Inguinal hernia, Anteverted nares, High palate, Low-set ears, Intrauterine growt...	OMIM:219200
Tetrasomy 18P	Large hands, Short nose, Low-set, posteriorly rotated ears	ORPHA:3307
Dysmorphism-Short Stature-Deafness-Difference Of Sex Development Syndrome	Anteverted nares, Cleft soft palate, Wide nasal bridge, Microtia, Submucous cleft soft palate, In...	ORPHA:2282
Mosaic Variegated Aneuploidy Syndrome 2	Frontal bossing, Depressed nasal bridge, Rhizomelia, Craniosynostosis, Hearing impairment, Bulbou...	OMIM:614114
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Encephalocele, Hydrocephalus, Holoprosencephaly	OMIM:253800
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Hepatomegaly, Atrophic gastritis, Psoriasiform dermatitis, Eczema, Pneumonia, Splenomegaly, Lymph...	ORPHA:436159
Hemihyperplasia-Multiple Lipomatosis Syndrome	Seborrheic dermatitis, Hydrocele testis, Multiple lipomas, Nephroblastoma, Ovarian serous cystade...	ORPHA:276280
Mitochondrial Myopathy And Sideroblastic Anemia	Short nose, High palate	ORPHA:2598
Spondyloepiphyseal Dysplasia, Nishimura Type	Short nose, Small hand, Midface retrusion, Brachydactyly	OMIM:618618
Bartsocas-Papas Syndrome 1	Short phalanx of finger, Syndactyly, Short metacarpal, Short thumb, Ulnar bowing, Microtia, Low-s...	OMIM:263650
Holoprosencephaly 2	Aplasia of the nasal bone, Proboscis, Alobar holoprosencephaly, Submucous cleft hard palate, Abse...	OMIM:157170
Generalized Pustular Psoriasis	Elevated hepatic transaminase, Pustule, Cheilitis, Uveitis, Arthritis, Palmoplantar pustulosis, E...	ORPHA:247353
Miller-Dieker Lissencephaly Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Delayed eruption of teeth, Anteverted nares, Poste...	OMIM:247200
Sweet Syndrome	Acute myeloid leukemia, Predominantly dermal neutrophilic infiltrate, Myositis, Acne, Hematologic...	ORPHA:3243
Ear-Patella-Short Stature Syndrome	Microtia, third degree, Posteriorly rotated ears, Camptodactyly of finger, Craniosynostosis, High...	ORPHA:2554
Oculocutaneous Albinism Type 2	Basal cell carcinoma, Squamous cell carcinoma of the skin, Cutaneous melanoma	ORPHA:79432
Chondrodysplasia Punctata 1, X-Linked Recessive	Depressed nasal bridge, Hearing impairment, Anosmia, Short nose, Short nasal septum, Short distal...	OMIM:302950
8P23.1 Microdeletion Syndrome	Broad hallux phalanx, Prominent nasal bridge, Proximal placement of thumb, Tapered finger, Extern...	ORPHA:251071
Faundes-Banka Syndrome	Frontal bossing, Underdeveloped nasal alae, Bulbous nose, Cupped ear, Cleft palate, Plagiocephaly...	OMIM:619376
Cowden Syndrome	Endometrial carcinoma, Follicular thyroid carcinoma, Enlarged polycystic ovaries, Cavernous heman...	ORPHA:201
Achondrogenesis, Type Ia	Abnormal femoral metaphysis morphology, Hypoplastic nasal bridge, Turricephaly, Anteverted nares,...	OMIM:200600
Microtia With Meatal Atresia And Conductive Deafness	Anotia, Aplasia/Hypoplasia of the middle ear, Microtia, Conductive hearing impairment	OMIM:251800
19P13.13 Microdeletion Syndrome	Depressed nasal bridge, Anteverted nares, Sandal gap, Long fingers, Brachycephaly, Macroglossia, ...	ORPHA:357001
Leukodystrophy, Hypomyelinating, 10	Arachnodactyly, Anteverted nares, Bulbous nose, Low-set ears, Hypoplasia of the antihelix, Short ...	OMIM:616420
Neurodevelopmental Disorder With Language Delay And Behavioral Abnormalities, With Or Without Seizures	Bulbous nose, Macrotia, Wide nasal bridge, Short nose	OMIM:620292
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Frontal bossing, Broad hallux, Depressed nasal bridge, Anteverted nares, Bulbous nose, High palat...	OMIM:614105
Toluene Embryopathy	Tapered finger, Protruding ear, Biparietal narrowing, Low-set ears, Short nose	ORPHA:1920
Mosaic Variegated Aneuploidy Syndrome 1	Wide nose, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Hydrocephalus, Bra...	OMIM:257300
Smith-Magenis Syndrome	Frontal bossing, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Delayed eruption of pr...	ORPHA:819
Al-Raqad Syndrome	Short nose, Sandal gap, Low-set ears, Brachydactyly	OMIM:616459
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Abnormal nasopharynx morphology, Toe syndactyly, Absence of Stensen duct, Choanal atresia, Inguin...	OMIM:129900
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Elevated hepatic transaminase, Conjunctivitis, Cirrhosis, Erythroderma	OMIM:242150
Osteoglophonic Dysplasia	Short metatarsal, Eruption failure, High palate, Short palm, Short phalanx of finger, Broad metac...	OMIM:166250
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Anal stenosis, Anteverted nares, Proportionate shortening of all digits, Tapered finger, Prominen...	ORPHA:280633
Congenital Disorder Of Glycosylation, Type Il	Frontal bossing, Depressed nasal bridge, Brachycephaly, Low-set ears, Short nose	OMIM:608776
Harlequin Ichthyosis	Recurrent respiratory infections, Erythroderma	ORPHA:457
Somatostatinoma	Neoplasm of the pancreas, Hepatomegaly, Elevated circulating growth hormone concentration, Intrah...	ORPHA:97283
Trichohepatoenteric Syndrome 1	Frontal bossing, Wide nose, Villous atrophy, Anteverted nares, Avascular necrosis of the capital ...	OMIM:222470
Congenital Disorder Of Glycosylation, Type Iu	Death in infancy, Short nose, High palate	OMIM:615042
Intellectual Developmental Disorder, Autosomal Dominant 53	Short femur, Intestinal malrotation, Brachycephaly, Genu valgum, Posterior plagiocephaly, Microti...	OMIM:617798
Linear Skin Defects With Multiple Congenital Anomalies 2	Posteriorly rotated ears, Short nose, Sandal gap	OMIM:300887
Meier-Gorlin Syndrome 4	Intrauterine growth retardation, Patellar aplasia, Microtia, Low-set ears	OMIM:613804
Donnai-Barrow Syndrome	Omphalocele, Depressed nasal bridge, Intestinal malrotation, Posteriorly rotated ears, Broad nasa...	OMIM:222448
Kagami-Ogata Syndrome	Omphalocele, Frontal bossing, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Coxa val...	ORPHA:254519
Treacher Collins Syndrome 2	Choanal atresia, Cleft palate, Fusion of middle ear ossicles, Microtia, Choanal stenosis, Anotia,...	OMIM:613717
Lacrimoauriculodentodigital Syndrome 3	Short thumb, Partial duplication of thumb phalanx, Cupped ear, Xerostomia, Microtia, Hearing impa...	OMIM:620193
Immunodeficiency 25	Recurrent pneumonia, Erythroderma	OMIM:610163
Aicardi Syndrome	Recurrent pneumonia, Teratoma, Carcinoma, Lipoma, Hepatoblastoma, Metastatic angiosarcoma, Hemang...	OMIM:304050
Distal Deletion 12Q	Frontal bossing, Broad hallux, Anteverted nares, Overlapping toe, High, narrow palate, Bulbous no...	ORPHA:96149
Vipoma	Neoplasm of the pancreas, Hepatomegaly, Follicular thyroid carcinoma, Elevated circulating growth...	ORPHA:97282
Multiple Endocrine Neoplasia Type 1	Angiofibromas, Pituitary corticotropic cell adenoma, Pituitary gonadotropic cell adenoma, Pancrea...	ORPHA:652
Tetrasomy 12P	Delayed eruption of teeth, Frontal bossing, Anteverted nares, Abnormal soft palate morphology, Sh...	ORPHA:884
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Elevated hepatic transaminase, Hepatomegaly, Eczema, Lymphadenitis, Splenomegaly, Cholestasis, In...	OMIM:615895
Arthrogryposis, Distal, Type 2A	Flexion contracture of finger, Inguinal hernia, Rocker bottom foot, Abnormal auditory evoked pote...	OMIM:193700
Carney Complex	Hepatocellular carcinoma, Thyroid carcinoma, Papillary thyroid carcinoma, Neoplasm of the breast,...	ORPHA:1359
Microcephaly-Capillary Malformation Syndrome	Wide nose, Hearing impairment, Cleft palate, Low-set ears, Clinodactyly, Short distal phalanx of ...	OMIM:614261
Cerebrofacioarticular Syndrome	Syndactyly, Anal stenosis, Bilateral choanal atresia/stenosis, Wide nasal bridge, Anteriorly plac...	ORPHA:314679
Lmna-Related Cardiocutaneous Progeria Syndrome	Pulmonary carcinoid tumor, Papillary renal cell carcinoma, Abnormal intrahepatic bile duct morpho...	ORPHA:363618
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Occipital encephalocele, Meningoencephalocele, Hydrocephalus, Cleft palate, Microtia, Atresia of ...	OMIM:236670
Baker-Gordon Syndrome	Prominent nasal tip, Short nose	OMIM:618218
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Hepatosplenomegaly, Recurrent lower respiratory tract infections, Recurrent upper respiratory tra...	ORPHA:169154
Craniofacioskeletal Syndrome	Posteriorly rotated ears, Choanal atresia, Small hand, Cleft palate, Short foot, Microtia, Short ...	OMIM:300712
Ring Chromosome 12 Syndrome	Syndactyly, High, narrow palate, Abnormal 5th finger morphology, Microtia, Symphalangism of the t...	ORPHA:1439
Fibrochondrogenesis 2	Frontal bossing, Anteverted nares, Metaphyseal widening, Metaphyseal cupping, Midface retrusion, ...	OMIM:614524
Barber-Say Syndrome	Delayed eruption of teeth, Wide nose, Anteverted nares, Extra concha fold, Underdeveloped nasal a...	OMIM:209885
Meier-Gorlin Syndrome 3	Posteriorly rotated ears, Prominent nasal bridge, Aplasia/Hypoplasia of the patella, Patellar apl...	OMIM:613803
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To 10P11.21P12.31 Microdeletion	Depressed nasal bridge, Choanal atresia, Posteriorly rotated ears, Celiac disease, Bulbous nose, ...	ORPHA:284169
Neurodevelopmental Disorder With Brain Anomalies, Seizures, And Scoliosis	Depressed nasal bridge, Posteriorly rotated ears, Long nose, Hydrocephalus, High palate, Low-set ...	OMIM:618590
Progeria-Short Stature-Pigmented Nevi Syndrome	Neoplasm of the pancreas, Neoplasm, Hepatic steatosis, Elevated hepatic transaminase	ORPHA:2959
Rnf13-Related Severe Early-Onset Epileptic Encephalopathy	Narrow nasal bridge, Inguinal hernia, Tapered finger, Sensorineural hearing impairment, Finger jo...	ORPHA:544503
Chromosome 19Q13.11 Deletion Syndrome, Distal	Inguinal hernia, Anteverted nares, Overlapping toe, Underdeveloped nasal alae, Wide nasal bridge,...	OMIM:613026
Primary Microcephaly-Mild Intellectual Disability-Young-Onset Diabetes Syndrome	Wide nose, Anteverted nares, Deviation of the 5th toe, Sensorineural hearing impairment, Slender ...	ORPHA:391408
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Tibial bowing, Short tibia, Small proximal tibial epiphyses, Intrauterine growth retardation, Dep...	ORPHA:96334
Autosomal Dominant Omodysplasia	Short humerus, Frontal bossing, Rhizomelia, Depressed nasal bridge, Short palm, Short nose, Short...	ORPHA:93328
Thalidomide Embryopathy	Aplasia/Hypoplasia of the thumb, Aplasia/hypoplasia of the humerus, Preaxial hand polydactyly, Ra...	ORPHA:3312
Bazex-Dupré-Christol Syndrome	Macrotia, Abnormal finger morphology, Hypoplasia of the ear cartilage	ORPHA:113
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Tracheoesophageal fistula, Microtia, High palate, Talipes equinovarus, Low-set ears, Glossitis	OMIM:277380
Teebi Hypertelorism Syndrome 1	Omphalocele, Frontal bossing, Natal tooth, Depressed nasal bridge, Anteverted nares, Sagittal cra...	OMIM:145420
Turcot Syndrome With Polyposis	Glioblastoma multiforme, Brain neoplasm, Astrocytoma, Soft tissue neoplasm, Glioma, Pilomatrixoma...	ORPHA:99818
Lacrimoauriculodentodigital Syndrome 2	Duplication of thumb phalanx, Abnormal thumb morphology, Cupped ear, Microtia, Hearing impairment	OMIM:620192
Lathosterolosis	Toe syndactyly, Anteverted nares, Bulbous nose, Meningocele, Postaxial hand polydactyly, Postaxia...	ORPHA:46059
Charge Syndrome	Hand monodactyly, Holoprosencephaly, Hypoplasia of the ulna, Aplasia of the semicircular canal, S...	OMIM:214800
Erythroderma, Congenital, With Palmoplantar Keratoderma, Hypotrichosis, And Hyper-Ige	Recurrent respiratory infections, Psoriasiform dermatitis, Recurrent skin infections, Eosinophili...	OMIM:615508
Isolated Arrhinia	Aplasia/Hypoplasia of the nasal septum, Underdeveloped nasal alae, Hypoplasia of the nasal bone, ...	ORPHA:1134
Aarskog-Scott Syndrome	Hyperextensibility of the finger joints, Syndactyly, Inguinal hernia, Anteverted nares, Wide nasa...	OMIM:305400
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Frontal bossing, Wide nose, Flat occiput, Broad hallux, Prominent nasal bridge, Slender finger, S...	ORPHA:251028
Nablus Mask-Like Facial Syndrome	Frontal bossing, Small earlobe, Depressed nasal bridge, Anteverted nares, Short hallux, Tapered f...	OMIM:608156
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	High, narrow palate, Brachycephaly, Femoral bowing, Anteriorly placed anus, Choanal stenosis, Con...	ORPHA:95699
Foxg1 Syndrome Due To 14Q12 Microdeletion	Depressed nasal bridge, Bulbous nose, Protruding ear, Macroglossia, Abnormal antihelix morphology...	ORPHA:261144
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Frontal bossing, Anal stenosis, Depressed nasal bridge, Anteverted nares, Posteriorly rotated ear...	OMIM:614080
Diaphanospondylodysostosis	Inguinal hernia, Depressed nasal bridge, Depressed nasal ridge, Cleft palate, Hammertoe, Talipes ...	OMIM:608022
Stickler Syndrome Type 1	Short nose, Cleft palate, Sensorineural hearing impairment	ORPHA:90653
Jacobsen Syndrome	Long hallux, Broad columella, Abnormality of the anus, Low-set, posteriorly rotated ears, Broad h...	ORPHA:2308
Cushing Syndrome Due To Ectopic Acth Secretion	Pancreatic adenocarcinoma, Adrenal hyperplasia, Acne, Pancreatoblastoma, Pituitary corticotropic ...	ORPHA:99889
Ruvalcaba Syndrome	Short metacarpal, Brachydactyly, Inguinal hernia, Proximal placement of thumb, Micromelia, Small ...	ORPHA:3121
Severe X-Linked Intellectual Disability, Gustavson Type	Abnormal pinna morphology, Rocker bottom foot, Recurrent upper respiratory tract infections, Calc...	ORPHA:3078
Osteogenic Sarcoma	Retinoblastoma, Osteosarcoma	OMIM:259500
Marshall-Smith Syndrome	Distal widening of metacarpals, Coxa vara, Anteriorly placed anus, Glossoptosis, Choanal stenosis...	OMIM:602535
Trisomy 10P	Thumb contracture, Frontal bossing, Depressed nasal bridge, Anteverted nares, Abnormal auditory e...	ORPHA:171929
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Hypoplasia of the ulna, Depressed nasal bridge, Anteverted nares, Brachycephaly, High palate, Lam...	OMIM:615398
Robinow Syndrome, Autosomal Recessive 1	Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Radial bowing, Dep...	OMIM:268310
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Protruding tongue, Malabsorption, Macroglossia, Low-set...	OMIM:242860
Ichthyosis, Congenital, Autosomal Recessive 1	Erythroderma	OMIM:242300
Temtamy Preaxial Brachydactyly Syndrome	Partial duplication of the proximal phalanx of the 3rd finger, Cutaneous finger syndactyly, Short...	ORPHA:363417
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Frontal bossing, Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Increased f...	OMIM:619005
Marshall Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide...	ORPHA:560
Omenn Syndrome	Hepatomegaly, Pneumonia, Splenomegaly, Hypoplasia of the thymus, Erythroderma	OMIM:603554
Robinow Syndrome, Autosomal Dominant 3	Omphalocele, Syndactyly, Midface retrusion, Frontal bossing, Depressed nasal bridge, Anteverted n...	OMIM:616894
Spinocerebellar Ataxia 34	Erythroderma	OMIM:133190
Microcephalic Osteodysplastic Primordial Dwarfism, Type I	Micromelia, Prominent nose, Preaxial polydactyly, Femoral bowing, Death in childhood, Death in in...	OMIM:210710
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Natal tooth, Depressed nasal bridge, Bilateral conductive hearing impairment, Low-set ears, Volvu...	OMIM:617802
Biotinidase Deficiency	Hepatomegaly, Skin rash, Recurrent skin infections, Seborrheic dermatitis, Splenomegaly, Conjunct...	OMIM:253260
Chanarin-Dorfman Syndrome	Sensorineural hearing impairment, Microtia	OMIM:275630
Skin Creases, Congenital Symmetric Circumferential, 2	Depressed nasal bridge, Posteriorly rotated ears, Uplifted earlobe, Tapered finger, Long fingers,...	OMIM:616734
Agammaglobulinemia 9, Autosomal Recessive	Eczematoid dermatitis, Seborrheic dermatitis	OMIM:619693
Erythroderma Desquamativum	Seborrheic dermatitis	ORPHA:314
Arachnodactyly-Abnormal Ossification-Intellectual Disability Syndrome	Frontal bossing, Arachnodactyly, Thin calvarium, Short nose, Midface retrusion	ORPHA:1129
Marshall-Smith Syndrome	Bowing of the long bones, Anteverted nares, Choanal atresia, Craniosynostosis, Protruding tongue,...	ORPHA:561
C Syndrome	Omphalocele, Low-set, posteriorly rotated ears, Death in infancy, Toe syndactyly, Depressed nasal...	ORPHA:1308
Wolf-Hirschhorn Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Arachnodactyly, Short hallux, Short thumb, Pr...	ORPHA:280
Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome	Short nose	ORPHA:2429
Fanconi Anemia, Complementation Group F	Absent thumb, Short thumb, Hypoplasia of the radius, 2-3 finger syndactyly, Microtia, Conductive ...	OMIM:603467
Peters Plus Syndrome	Micromelia, Brachycephaly, Conductive hearing impairment, Clinodactyly of the 5th finger, Spina b...	ORPHA:709
Intellectual Developmental Disorder, X-Linked 21	Short nose, Uplifted earlobe	OMIM:300143
Acrocallosal Syndrome	High palate, Clinodactyly of the 5th finger, Bifid uvula, Finger syndactyly, Tapered finger, Pers...	OMIM:200990
Cardiofaciocutaneous Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Anteverted nares, Abn...	ORPHA:1340
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small earlobe, Prominent nasal bridge, Hearing impairment, Underdeveloped nasal alae, Aplasia of ...	ORPHA:364577
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Anteverted nares, Delayed eruption of permanent teeth, Short distal phalanx of toe, Short nose, B...	OMIM:619356
Sapho Syndrome	Psoriasiform dermatitis, Acne, Osteomyelitis, Skin rash, Recurrent skin infections, Pustule, Neop...	ORPHA:793
Acrocephalopolydactylous Dysplasia	Hypoplastic colon, Omphalocele, Abnormal pinna morphology, Micromelia, Craniosynostosis, Postaxia...	OMIM:200995
Musculocontractural Ehlers-Danlos Syndrome	Low-set, posteriorly rotated ears, Inguinal hernia, Craniosynostosis, Tapered finger, External ea...	ORPHA:2953
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Frontal bossing, Pyloric stenosis, Submucous cleft hard palate, Plagiocephaly, High palate, Contr...	ORPHA:457279
Macrocephaly/Autism Syndrome	Frontal bossing, Depressed nasal bridge, High palate, Biparietal narrowing, Recurrent otitis medi...	OMIM:605309
Smith-Kingsmore Syndrome	Frontal bossing, Rhizomelia, Depressed nasal bridge, Short proximal phalanx of finger, Umbilical ...	OMIM:616638
Turnpenny-Fry Syndrome	Frontal bossing, Overlapping toe, Tapered finger, Long fingers, Adducted thumb, Small hand, Brach...	OMIM:618371
Johanson-Blizzard Syndrome	Delayed eruption of teeth, Death in infancy, Underdeveloped nasal alae, Malabsorption, Sensorineu...	ORPHA:2315
Cardiofaciocutaneous Syndrome 1	Hyperextensibility of the finger joints, Depressed nasal bridge, Anteverted nares, Posteriorly ro...	OMIM:115150
Chromosome 1P36 Deletion Syndrome, Distal	Depressed nasal ridge, Brachycephaly, High palate, Conductive hearing impairment, Clinodactyly of...	OMIM:607872
Micro Syndrome	Low-set, posteriorly rotated ears, Anteverted nares, Wide nasal bridge, High palate, Intrauterine...	ORPHA:2510
Bathing Suit Ichthyosis	Erythroderma	ORPHA:100976
Distal Duplication 5Q	Hypoplasia of the ulna, Prominent nasal bridge, Craniosynostosis, Absent thumb, Hypoplasia of the...	ORPHA:96097
Oculodentodigital Dysplasia	Abnormality of the ear, Clinodactyly of the 5th finger, Conductive hearing impairment, Broad colu...	ORPHA:2710
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Frontal bossing, Depressed nasal bridge, Craniosynostosis, Tapered finger, Scaphocephaly, Small h...	OMIM:620005
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Metaphyseal widening, High palate, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Slen...	ORPHA:536467
Myhre Syndrome	Overlapping toe, Prominent nasal bridge, Hearing impairment, Short toe, 2-3 toe syndactyly, Cleft...	OMIM:139210
Toriello-Carey Syndrome	Aganglionic megacolon, Abnormal pinna morphology, Hearing impairment, Cleft palate, Anteriorly pl...	ORPHA:3338
Warburg Micro Syndrome 2	Overlapping toe, Prominent nasal bridge, Asymmetry of the ears, Brachycephaly, Short nose, Macrot...	OMIM:614225
Holoprosencephaly 1	Proboscis, Alobar holoprosencephaly, Aplasia of the nose, Ethmocephaly, Midface retrusion, Median...	OMIM:236100
Spinocerebellar Ataxia 42, Early-Onset, Severe, With Neurodevelopmental Deficits	Clinodactyly, Syndactyly, Short nose, Anteverted ears	OMIM:618087
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 2	Acne, Seborrheic dermatitis	OMIM:614441
Ichthyosis, Congenital, Autosomal Recessive 9	Erythroderma	OMIM:615023
Letterer-Siwe Disease	Stomatitis, Hepatosplenomegaly, Jaundice, Seborrheic dermatitis	OMIM:246400
Congenital Heart Defects And Skeletal Malformations Syndrome	Anal atresia, Frontal bossing, Arachnodactyly, Sandal gap, Intestinal malrotation, Long nose, Hig...	OMIM:617602
Neurodevelopmental Disorder With Hypotonia, Impaired Speech, And Behavioral Abnormalities	Short nose, Anteverted nares, Long hallux, Tapered finger	OMIM:619854
Robinow Syndrome, Autosomal Dominant 1	High palate, Short palm, Duplication of the distal phalanx of hand, Dislocated radial head, Depre...	OMIM:180700
Warburg Micro Syndrome 3	Brachycephaly, Narrow palate, Clinodactyly of the 5th finger, Short nose, Macrotia	OMIM:614222
Seborrhea-Like Dermatitis With Psoriasiform Elements	Seborrheic dermatitis	OMIM:610227
Complement Component 5 Deficiency	Generalized seborrheic dermatitis	OMIM:609536
Pachyonychia Congenita 2	Steatocystoma multiplex, Folliculitis, Angular cheilitis	OMIM:167210
Developmental Delay With Or Without Dysmorphic Facies And Autism	Omphalocele, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, P...	OMIM:618454
Autosomal Recessive Faciodigitogenital Syndrome	Finger syndactyly, Frontal bossing, Anteverted nares, Prominent nasal bridge, Posteriorly rotated...	ORPHA:1974
Noonan Syndrome 3	Frontal bossing, Hypoplastic nasal bridge, Anteverted nares, Thickened helices, Sagittal craniosy...	OMIM:609942
Ichthyosis, Congenital, Autosomal Recessive 5	Erythroderma	OMIM:604777
Combined Oxidative Phosphorylation Deficiency 25	Syndactyly, Depressed nasal bridge, Anteverted nares, Sensorineural hearing impairment, Wide nasa...	OMIM:616430
Stuve-Wiedemann Syndrome 1	Femoral bowing, Tibial bowing, Smooth tongue, Short tibia, Short phalanx of finger, Death in infa...	OMIM:601559
Dyskeratosis Congenita	Neoplasm of the pancreas, Hepatomegaly, Recurrent respiratory infections, Splenomegaly, Lymphoma,...	ORPHA:1775
Trisomy 8P	Short fourth metatarsal, Conductive hearing impairment, Clinodactyly of the 5th finger, Bifid uvu...	ORPHA:264450
Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To 5Q31.3 Microdeletion	Depressed nasal bridge, Anteverted nares, Polydactyly, High palate, Low-set ears, Short nose	ORPHA:314655
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Prominent nasal bridge, Broad nasal tip, Sensorineural hearing impairment, Wide nasal bridge, Pla...	OMIM:300749
Encephalopathy Due To Sulfite Oxidase Deficiency	Short nose	ORPHA:833
Autosomal Recessive Robinow Syndrome	Clinodactyly of the 5th finger, Chronic otitis media, Synostosis of carpal bones, Low-set, poster...	ORPHA:1507
X-Linked Dominant Chondrodysplasia Punctata	Abnormal lung morphology, Erythroderma	ORPHA:35173
Ablepharon Macrostomia Syndrome	Omphalocele, Toe syndactyly, Depressed nasal bridge, Anteverted nares, Camptodactyly of finger, U...	ORPHA:920
Brain Malformations With Or Without Urinary Tract Defects	Inguinal hernia, Anteverted nares, Low-set ears, Overfolded helix, Short nose	OMIM:613735
Harel-Yoon Syndrome	Frontal bossing, Short nose	OMIM:617183
Corpus Callosum, Agenesis Of, With Facial Anomalies And Robin Sequence	Syndactyly, Depressed nasal bridge, Anteverted nares, Proximal placement of thumb, Abnormal pinna...	OMIM:217980
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Broad toe, Small earlobe, Anteverted nares, Posteriorly rotated ears, Broad nasal tip, Long nose,...	OMIM:619522
17Q24.2 Microdeletion Syndrome	Otosclerosis, Upper limb undergrowth, Wide nasal bridge, Microtia, Broad thumb, Recurrent otitis ...	ORPHA:529962
Congenital Disorder Of Glycosylation, Type If	Erythroderma	OMIM:609180
Progressive Spondyloepimetaphyseal Dysplasia-Short Stature-Short Fourth Metatarsals-Intellectual Disability Syndrome	Short fourth metatarsal, Tibial metaphyseal irregularity, Abnormality of the ear, Coxa vara, Flat...	ORPHA:457395
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Proximal placement of thumb, Short metatarsal, Patellar hypoplasia, Hand monodactyly, High palate...	OMIM:609945
Spondylocarpotarsal Synostosis Syndrome	Carpal synostosis, Frontal bossing, Short metacarpal, Inguinal hernia, Anteverted nares, Bowed hu...	OMIM:272460
Branchiooculofacial Syndrome	Proximal placement of thumb, Conductive hearing impairment, Clinodactyly of the 5th finger, Hypop...	OMIM:113620
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Squamous cell carcinoma of the skin, Recurrent skin infections	ORPHA:79396
Melanocytic Nevus Syndrome, Congenital	Short nose, Anteverted nares, Narrow nasal ridge, Broad nasal tip	OMIM:137550
Aspartylglucosaminuria	Inguinal hernia, Abnormal morphology of ulna, Malabsorption, Wide nasal bridge, Macroglossia, Mic...	ORPHA:93
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Depressed nasal bridge, Tapered finger, Underdeveloped nasal alae, Sensorineural hearing impairme...	OMIM:616007
Deafness With Labyrinthine Aplasia, Microtia, And Microdontia	Underdeveloped nasal alae, Prominent nose, Sensorineural hearing impairment, Wide nasal bridge, A...	ORPHA:90024
Congenital Anomalies Of Kidney And Urinary Tract Syndrome With Or Without Hearing Loss, Abnormal Ears, Or Developmental Delay	Anteverted nares, Abnormal pinna morphology, Anteverted ears, Wide nasal bridge, Microtia, Low-se...	OMIM:617641
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Depressed nasal bridge, Anteverted nares, Posteriorly rotated ears, Tapered finger, Protruding to...	OMIM:309580
Kleefstra Syndrome Due To 9Q34 Microdeletion	Inguinal hernia, Flat occiput, Anteverted nares, Protruding tongue, Brachycephaly, Macroglossia, ...	ORPHA:96147
5Q14.3 Microdeletion Syndrome	Short nose, Toe syndactyly, Anteverted nares	ORPHA:228384
Warburg-Cinotti Syndrome	Posteriorly rotated ears, Underdeveloped nasal alae, Osteolytic defects of the phalanges of the h...	OMIM:618175
Monosomy 9Q22.3	Delayed eruption of teeth, Hydrocephalus, Thickened ears, Polydactyly, Low-set ears, Trigonocepha...	ORPHA:77301
Jaberi-Elahi Syndrome	Depressed nasal bridge, Protruding ear, Talipes equinovarus, Low-set ears, Hand clenching, Short ...	OMIM:617988
Frontofacionasal Dysplasia	Underdeveloped nasal alae, Brachycephaly, Bifid nose, Midline defect of the nose, Midface retrusi...	OMIM:229400
Ichthyosis, Congenital, Autosomal Recessive 6	Erythroderma	OMIM:612281
Pituitary Hormone Deficiency, Combined Or Isolated, 1	Frontal bossing, Depressed nasal bridge, Anteverted nares, Macroglossia, Concave nasal ridge, Sho...	OMIM:613038
Immunoskeletal Dysplasia With Neurodevelopmental Abnormalities	Hepatic cysts, Erythroderma	OMIM:617425
Bone Fragility With Contractures, Arterial Rupture, And Deafness	Contracture of the proximal interphalangeal joint of the 2nd finger, Anteverted nares, Overlappin...	OMIM:612394
Tuberous Sclerosis Complex	Retinal astrocytic hamartoma, Angiofibromas, Retinal hamartoma, Pancreatic endocrine tumor, Pitui...	ORPHA:805
Lacrimoauriculodentodigital Syndrome	Xerostomia, Conductive hearing impairment, Abnormal salivary gland morphology, Abnormal digit mor...	ORPHA:2363
Cerebrofaciothoracic Dysplasia	Low-set, posteriorly rotated ears, Wide nose, Brachycephaly, Cleft palate, Short nose, Midface re...	ORPHA:1394
Periventricular Nodular Heterotopia 9	Posteriorly rotated ears, Tapered finger, Microtia, High palate, Clinodactyly of the 5th finger, ...	OMIM:618918
Nicolaides-Baraitser Syndrome	High, narrow palate, Short metatarsal, Prominent interphalangeal joints, Short phalanx of finger,...	OMIM:601358
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Hyperextensibility of the finger joints, Wide nose, Inguinal hernia, Anteverted nares, Overlappin...	OMIM:213980
Hermansky-Pudlak Syndrome	Basal cell carcinoma, Squamous cell carcinoma of the skin, Pulmonary fibrosis	ORPHA:79430
Copper Deficiency, Familial Benign	Seborrheic dermatitis	OMIM:121270
Mietens Syndrome	Hypoplasia of the ulna, Wide nose, Coxa valga, Metatarsus adductus, Avascular necrosis of the cap...	ORPHA:2557
Adenylosuccinase Deficiency	Short nose, Anteverted nares, Brachycephaly, Low-set ears	OMIM:103050
Proboscis Lateralis	Choanal atresia, Proboscis, Single naris, High palate, Holoprosencephaly	ORPHA:141099
Chromosome 14Q11-Q22 Deletion Syndrome	Inguinal hernia, Depressed nasal bridge, Wide nasal bridge, Plagiocephaly, Macroglossia, High pal...	OMIM:613457
Bartsocas-Papas Syndrome	Finger syndactyly, Toe syndactyly, Aplasia/Hypoplasia of the distal phalanges of the toes, Underd...	ORPHA:1234
Opsismodysplasia	Frontal bossing, Short metacarpal, Depressed nasal bridge, Anteverted nares, Rhizomelia, Posterio...	OMIM:258480
Schinzel-Giedion Syndrome	Tibial bowing, Anteriorly placed anus, Choanal stenosis, High palate, Abnormal cochlea morphology...	ORPHA:798
Autosomal Dominant Robinow Syndrome	Micromelia, High, narrow palate, Coxa vara, Short palm, Clinodactyly of the 5th finger, Finger sy...	ORPHA:3107
Opsismodysplasia	Frontal bossing, Flat occiput, Depressed nasal bridge, Tapered finger, Short nose, Abnormal metap...	ORPHA:2746
Premature Aging Syndrome, Penttinen Type	Delayed eruption of teeth, Frontal bossing, Aplasia of the nasal bone, Brachydactyly, Midface ret...	OMIM:601812
Autosomal Recessive Cutis Laxa Type 2, Classic Type	Inguinal hernia, Anteverted nares, Broad nasal tip, Prominent nasolabial fold, High palate, Low-s...	ORPHA:357074
Congenital Disorder Of Glycosylation, Type Iie	Death in infancy, Wide nose, Overlapping fingers, Protruding tongue, Sensorineural hearing impair...	OMIM:608779
Robinow Syndrome	Syndactyly, Depressed nasal bridge, Anteverted nares, Persistence of primary teeth, Mesomelic arm...	ORPHA:97360
Transketolase Deficiency	Hepatomegaly, Conjunctivitis, Uveitis, Seborrheic dermatitis	ORPHA:488618
Malan Syndrome	Coxa valga, Long fingers, Advanced eruption of teeth, Short nose, Midface retrusion	OMIM:614753
Neurodegeneration With Brain Iron Accumulation 2A	Frontal bossing, Short nose, Hearing impairment	OMIM:256600
Oculodentodigital Dysplasia	Narrow nasal bridge, Anteverted nares, Abnormal pinna morphology, Underdeveloped nasal alae, Cond...	OMIM:164200
Carey-Fineman-Ziter Syndrome	Anteverted nares, Aplasia/Hypoplasia of the tongue, Cleft palate, Ulnar deviation of finger, Glos...	ORPHA:1358
Chromosome 3Q29 Duplication Syndrome	Bulbous nose, Wide nasal bridge, Short nose	OMIM:611936
Kleefstra Syndrome	Delayed eruption of teeth, Anteverted nares, Pyloric stenosis, Brachycephaly, Macroglossia, Talip...	ORPHA:261494
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Depressed nasal bridge, Overlapping toe, Craniosynostosis, Broad nasal tip, Tapered finger, Heari...	OMIM:309590
Bannayan-Riley-Ruvalcaba Syndrome	Intestinal polyposis, Frontal bossing, Wide nose, Anteverted nares, Abnormal large intestine morp...	ORPHA:109
Down Syndrome	Sandal gap, Aganglionic megacolon, Protruding tongue, Conductive hearing impairment, Brachycephal...	OMIM:190685
Gapo Syndrome	Frontal bossing, Depressed nasal bridge, Anteverted nares, High, narrow palate, Protruding ear, P...	OMIM:230740
3Q29 Microdeletion Syndrome	Prominent nasal bridge, Tapered finger, High palate, Low-set ears, Clinodactyly of the 5th finger...	ORPHA:65286
Prader-Willi Syndrome Due To Translocation	Narrow nasal bridge, Brachydactyly, Flat occiput, Anteverted nares, Overlapping toe, Prominent no...	ORPHA:177907
Hyperphosphatasia With Impaired Intellectual Development Syndrome 3	Anal stenosis, Aganglionic megacolon, Broad nasal tip, Sensorineural hearing impairment, Wide nas...	OMIM:614207
Ameloonychohypohidrotic Syndrome	Seborrheic dermatitis	OMIM:104570
1P36 Deletion Syndrome	Low-set, posteriorly rotated ears, Frontal bossing, Depressed nasal bridge, Camptodactyly of fing...	ORPHA:1606
Microcephaly 26, Primary, Autosomal Dominant	Prominent nasal bridge, Protruding tongue, Wide nasal bridge, Trigonocephaly, Short nose	OMIM:619179
Fontaine Progeroid Syndrome	High, narrow palate, Brachycephaly, Anteriorly placed anus, Neonatal death, Conductive hearing im...	OMIM:612289
Developmental And Epileptic Encephalopathy 75	Short nose, Anteverted nares, Wide nasal bridge	OMIM:618437
Witteveen-Kolk Syndrome	Glue ear, Proximal placement of thumb, Uplifted earlobe, High, narrow palate, Protruding ear, Hig...	OMIM:613406
Kaufman Oculocerebrofacial Syndrome	Depressed nasal bridge, Anteverted nares, Intestinal malrotation, Abnormal pinna morphology, Meta...	OMIM:244450
Brachytelephalangy-Dysmorphism-Kallmann Syndrome	Brachydactyly, Anosmia, Genu valgum, Abnormal metacarpal morphology, Abnormal nostril morphology,...	ORPHA:1295
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Frontal bossing, Camptodactyly of finger, Tapered finger, Brachycephaly, Large earlobe, Hypoplasi...	ORPHA:1236
Acromesomelic Dysplasia 1	Frontal bossing, Short metacarpal, Radial bowing, Broad metatarsal, Short toe, Hypoplasia of the ...	OMIM:602875
Diamond-Blackfan Anemia	Depressed nasal bridge, Cleft soft palate, Absent thumb, Short thumb, Partial duplication of thum...	ORPHA:124
Hypertrophic Osteoarthropathy, Primary, Autosomal Dominant	Acne, Seborrheic dermatitis	OMIM:167100
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Abnormal nasopharynx morphology, Toe syndactyly, Absence of Stensen duct, Choanal atresia, Anal s...	OMIM:604292
Treacher Collins Syndrome 1	Choanal atresia, Cleft soft palate, Cleft palate, Microtia, Abnormal parotid gland morphology, At...	OMIM:154500
Alg9-Cdg	Omphalocele, Frontal bossing, Hitchhiker thumb, Ulnar deviation of the hand, Depressed nasal brid...	ORPHA:79328
Diamond-Blackfan Anemia 8	Short nose, Wide nasal bridge	OMIM:612563
Cortical Blindness-Intellectual Disability-Polydactyly Syndrome	Short nose, Postaxial hand polydactyly	ORPHA:1389
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Depressed nasal bridge, Talipes equinovarus, Advanced eruption of teeth, Short nose, Broad columella	OMIM:617865
Wiedemann-Steiner Syndrome	Rhizomelia, Tapered finger, Wide nasal bridge, High palate, Low-set ears, Dolichocephaly, Clinoda...	ORPHA:319182
Blomstrand Lethal Chondrodysplasia	Natal tooth, Short metacarpal, Bowing of the long bones, Depressed nasal bridge, Anteverted nares...	ORPHA:50945
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Delayed eruption of teeth, Hypoplasia of the ulna, Short metacarpal, Brachydactyly, Rhizomelia, C...	OMIM:143095
Specc1L-Related Hypertelorism Syndrome	Omphalocele, Finger syndactyly, Prominent nasal bridge, Short toe, Wide nasal bridge, Brachycepha...	ORPHA:1519
Hypertrophic Osteoarthropathy, Primary, Autosomal Recessive, 1	Arthritis, Eczematoid dermatitis, Seborrheic dermatitis	OMIM:259100
Pontocerebellar Hypoplasia, Type 10	Underdeveloped nasal alae, Tapered finger, Bulbous nose, Wide nasal bridge, High palate, Short no...	OMIM:615803
Intellectual Developmental Disorder, X-Linked 98	Depressed nasal bridge, Anteverted nares, Prominent nasal bridge, Underdeveloped nasal alae, Long...	OMIM:300912
Chondrodysplasia Punctata 2, X-Linked Dominant	Erythroderma	OMIM:302960
Ablepharon-Macrostomia Syndrome	Omphalocele, Short metacarpal, Toe syndactyly, Microtia, third degree, Abnormal nasal morphology,...	OMIM:200110
Scalp-Ear-Nipple Syndrome	Delayed eruption of teeth, Underdeveloped antitragus, Abnormal antihelix morphology, Microtia, Sm...	ORPHA:2036
Coffin-Lowry Syndrome	Hyperextensibility of the finger joints, Wide nose, Short metacarpal, Anteverted nares, Inguinal ...	OMIM:303600
Deeah Syndrome	Death in infancy, Overlapping fingers, Hearing impairment, Malabsorption, Narrow palate, Death in...	OMIM:619004
Craniorachischisis	Omphalocele, Cervical spina bifida, Myelomeningocele, Anencephaly, Sirenomelia, Spinal dysraphism...	ORPHA:63260
Phosphoribosylpyrophosphate Synthetase Superactivity	Depressed nasal bridge, Sensorineural hearing impairment, High palate, Low-set ears, Death in chi...	OMIM:300661
Spondyloepimetaphyseal Dysplasia, Sponastrime Type	Frontal bossing, Brachydactyly, Depressed nasal bridge, Anteverted nares, Rhizomelia, Flat capita...	OMIM:271510
Peho Syndrome	Short nose, Tapered finger	OMIM:260565
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Anteverted ears, Aplasia of the inner ear, Microtia, first degree, Profound sensorineural hearing...	OMIM:610706
Cerebellar Dysfunction With Variable Cognitive And Behavioral Abnormalities	Short ear, Anteverted nares, Posteriorly rotated ears, Hiatus hernia, Bulbous nose, Flared nostri...	OMIM:614756
X-Linked Intellectual Disability, Cantagrel Type	Short nose	ORPHA:85277
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Anotia, Atresia of the external auditory canal, Camptodactyly, Conductive hearing impairment, Ste...	OMIM:608257
Yunis-Varon Syndrome	Flat occiput, Short metatarsal, Protruding ear, Abnormal calvaria morphology, High palate, Absent...	OMIM:216340
Craniofacial-Deafness-Hand Syndrome	Ulnar deviation of the hand, Depressed nasal bridge, Sensorineural hearing impairment, Narrow nar...	OMIM:122880
Arterial Tortuosity Syndrome	Inguinal hernia, Arachnodactyly, Rocker bottom foot, Craniosynostosis, Coxa valga, Avascular necr...	ORPHA:3342
Congenital Disorder Of Glycosylation With Defective Fucosylation 1	Wide nasal bridge, High palate, Limb undergrowth, Intrauterine growth retardation, Short nose	OMIM:618005
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Trigonocephaly, Short nose, High palate	ORPHA:329178
Dend Syndrome	Clinodactyly of the 4th finger, Short nose, Anteverted nares, Thickened ears	ORPHA:79134
Spondylodysplastic Ehlers-Danlos Syndrome	Metaphyseal widening, Abnormal finger morphology, Low-set, posteriorly rotated ears, Depressed na...	ORPHA:536471
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Posterior plagiocephaly, Short 4th toe, Clinodactyly of the 5th finger, Prom...	OMIM:615873
Early-Onset Epileptic Encephalopathy And Intellectual Disability Due To Grin2A Mutation	Short nose	ORPHA:289266
Lathosterolosis	Toe syndactyly, Anteverted nares, Myelomeningocele, Postaxial hand polydactyly, Wide nasal bridge...	OMIM:607330
Cog1-Cdg	Low-set, posteriorly rotated ears, Rhizomelia, Coxa valga, Wide nasal bridge, Microtia, High pala...	ORPHA:263508
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Posteriorly rotated ears, Rocker bottom foot, Postaxial polydactyly, Long fingers, High palate, L...	OMIM:617527
Mandibuloacral Dysplasia With Type B Lipodystrophy	Death in early adulthood, Narrow nasal ridge, High palate, Osteolytic defects of the distal phala...	OMIM:608612
Pontocerebellar Hypoplasia, Type 2E	Large earlobe, Wide nose, Short nose	OMIM:615851
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Hepatomegaly, Seborrheic dermatitis, Splenomegaly, Micronodular cirrhosis, Aspiration pneumonia, ...	OMIM:301072
White-Kernohan Syndrome	Depressed nasal bridge, Anteverted nares, Underdeveloped nasal alae, Anteriorly placed anus, Rect...	OMIM:619426
Zttk Syndrome	Frontal bossing, Depressed nasal bridge, Craniosynostosis, Submucous cleft hard palate, Small han...	OMIM:617140
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome	Frontal bossing, Short metacarpal, Cloverleaf skull, Depressed nasal bridge, Anteverted nares, Cr...	ORPHA:508533
Simpson-Golabi-Behmel Syndrome	High, narrow palate, Clinodactyly of the 5th finger, Low-set, posteriorly rotated ears, Finger sy...	ORPHA:373
Refractory Celiac Disease	Elevated hepatic transaminase, Inflammatory abnormality of the skin, Lymphoma, Abnormal spleen ph...	ORPHA:398063
Oculocerebral Hypopigmentation Syndrome, Cross Type	Inguinal hernia, Arachnodactyly, Depressed nasal bridge, Anteverted nares, Abnormal thumb morphol...	ORPHA:2719
Prolidase Deficiency	High palate, Short nose, Concave nasal ridge, Depressed nasal bridge	OMIM:170100
Plaa-Associated Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Hyperextensibility of the finger joints, Rocker bottom foot, L...	ORPHA:521426
Peters-Plus Syndrome	Proximal placement of thumb, Short metatarsal, Protruding ear, Anteriorly placed anus, Short palm...	OMIM:261540
Poikiloderma With Neutropenia	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Recurrent sinusitis, Recurren...	OMIM:604173
Sotos Syndrome	Sacrococcygeal teratoma, Astrocytoma, Small cell lung carcinoma, Cryptorchidism, Acute lymphoblas...	ORPHA:821
Combined Pituitary Hormone Deficiencies, Genetic Forms	Depressed nasal ridge, Polydactyly, Holoprosencephaly, Abnormal digit morphology, Median cleft li...	ORPHA:95494
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Arachnodactyly, Intestinal malrotation, Hearing impairment, Hiatus hernia, Posteriorly rotated ea...	OMIM:601776
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Frontal bossing, Sandal gap, Posteriorly rotated ears, Broad nasal tip, Dolichocephaly, Long fing...	OMIM:620330
Cadds	Intrauterine growth retardation, Short nose, Sensorineural hearing impairment	ORPHA:369942
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Tapered finger, Unilateral radial aplasia, Partial absence of thumb, Aplasia of the 1st metacarpa...	ORPHA:476126
Congenital Myopathy 22B, Severe Fetal	Frontal bossing, Tapered toe, Wide nasal bridge, High palate, Low-set ears, Short nose	OMIM:620369
Agammaglobulinemia-Microcephaly-Craniosynostosis-Severe Dermatitis Syndrome	Hepatomegaly, Superficial dermal perivascular inflammatory infiltrate, Eczema, Seborrheic dermati...	ORPHA:83617
Brachytelephalangic Chondrodysplasia Punctata	Mixed hearing impairment, Broad nasal tip, Epiphyseal stippling of toe phalanges, Abnormal ossifi...	ORPHA:79345
Craniofacial Microsomia 1	Occipital encephalocele, Partial duplication of thumb phalanx, Sensorineural hearing impairment, ...	OMIM:164210
Trichothiodystrophy 4, Nonphotosensitive	Short nose, Macrotia, Anteverted nares	OMIM:234050
Pectus Excavatum-Macrocephaly-Dysplastic Nails Syndrome	Short nose, Depressed nasal bridge	ORPHA:2835
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Negative, Due To Adenosine Deaminase Deficiency	Hepatomegaly, Inflammatory abnormality of the skin, Sinusitis, Skin rash, Pneumonia, B-cell lymph...	OMIM:102700
Chops Syndrome	Anteverted nares, Hearing impairment, High, narrow palate, Thickened helices, Short nose, Brachyd...	OMIM:616368
Okamoto Syndrome	Omphalocele, Exaggerated median tongue furrow, Anal stenosis, Depressed nasal bridge, Anteverted ...	ORPHA:2729
Cornelia De Lange Syndrome	Micromelia, Proximal placement of thumb, Brachycephaly, High palate, Clinodactyly of the 5th fing...	ORPHA:199
Thrombocytopenia-Absent Radius Syndrome	Facial capillary hemangioma, Hepatosplenomegaly, Pancreatic cysts, Seborrheic dermatitis	OMIM:274000
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Low-set, posteriorly rotated ears, Mixed hearing impairment, Anteverted nares, Hearing impairment...	ORPHA:444077
Ogden Syndrome	Protruding ear, High palate, Clinodactyly of the 5th finger, Depressed nasal bridge, Broad hallux...	OMIM:300855
Degcags Syndrome	Prominent nose, High palate, Syndactyly, Anteverted nares, Hiatus hernia, Short thumb, Low-set ea...	OMIM:619488
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Elevated hepatic transaminase, Recurrent respiratory infections, Myositis, Psoriasiform dermatiti...	ORPHA:37042
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	High, narrow palate, Protruding ear, High palate, Otitis media, Anteverted nares, Wide nasal brid...	OMIM:619475
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Frontal bossing, Short metacarpal, Brachydactyly, Depressed nasal bridge, Anteverted nares, Broad...	OMIM:617157
Glycogen Storage Disease Ic	Hepatomegaly, Hepatoblastoma, Chronic pancreatitis, Recurrent upper respiratory tract infections,...	OMIM:232240
Malakoplakia	Inflammatory abnormality of the skin, Skin rash, Pruritus, Orchitis, Urinary bladder inflammation...	ORPHA:556
Ctcf-Related Neurodevelopmental Disorder	Low-set, posteriorly rotated ears, Broad hallux phalanx, Inguinal hernia, Anteverted nares, Sanda...	ORPHA:363611
Schinzel-Giedion Midface Retraction Syndrome	Abnormal nasopharynx morphology, Depressed nasal bridge, Anteverted nares, Wide distal femoral me...	OMIM:269150
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Seborrheic dermatitis	OMIM:210210
Gitelman Syndrome	Neoplasm of the pancreas, Gout, Tubulointerstitial nephritis, Parathyroid adenoma, Hashimoto thyr...	ORPHA:358
Coffin-Siris Syndrome	Delayed eruption of teeth, Depressed nasal bridge, Anteverted nares, Broad nasal tip, Clinodactyl...	ORPHA:1465
Femoral-Facial Syndrome	Short third metatarsal, Short humerus, Short fourth metatarsal, Toe syndactyly, Short fifth metat...	OMIM:134780
Ocular Anomalies-Axonal Neuropathy-Developmental Delay Syndrome	Short nose	ORPHA:496790
Juvenile Polyposis Syndrome	Neoplasm of the pancreas, Juvenile gastrointestinal polyposis, Juvenile colonic polyposis, Pulmon...	ORPHA:2929
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Cleft soft palate, Intestinal malrotation, Hydrocephalus, Genu valgum, Intrauterine growth retard...	OMIM:619321
Sponastrime Dysplasia	Aplasia of the nasal bone, Metaphyseal widening, Osteopathia striata, Coxa vara, Ivory epiphyses ...	ORPHA:93357
Lacrimoauriculodentodigital Syndrome 1	Absence of Stensen duct, Preaxial polydactyly, Xerostomia, Radial deviation of the 3rd finger, Tr...	OMIM:149730
Simpson-Golabi-Behmel Syndrome, Type 1	Short palm, Posterior helix pit, Exaggerated median tongue furrow, Depressed nasal bridge, Anteve...	OMIM:312870
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Abnormality of the pineal gland, Eczema, Seborrheic dermatitis	ORPHA:369950
22Q11.2 Deletion Syndrome	Hypoparathyroidism, Acne, Seborrheic dermatitis, Cryptorchidism, Splenomegaly, Atelectasis, Abnor...	ORPHA:567
Spondylometaepiphyseal Dysplasia, Short Limb-Hand Type	Micromelia, Bowing of the legs, Depressed nasal ridge, Triangular shaped distal phalanges of the ...	OMIM:271665
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 2	Hepatomegaly, Seborrheic dermatitis, Microvesicular hepatic steatosis, Cirrhosis, Elevated hepati...	OMIM:300868
Renal And Mullerian Duct Hypoplasia	Frontal bossing, Short nose	OMIM:266810
Townes-Brocks Syndrome	Broad hallux phalanx, Toe syndactyly, Rectoperineal fistula, Hearing impairment, External ear mal...	ORPHA:857
Epidermolysis Bullosa Simplex With Pyloric Atresia	Microtia, Congenital pyloric atresia	ORPHA:158684
Geleophysic Dysplasia 1	Short palm, Anteverted nares, Camptodactyly of finger, Coxa valga, Short foot, Irregular capital ...	OMIM:231050
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion	Hallux valgus, Inguinal hernia, Prominent nasal bridge, Cleft soft palate, Broad nasal tip, Under...	ORPHA:268261
Omodysplasia 1	Short humerus, Frontal bossing, Depressed nasal bridge, Rhizomelia, Increased fibular diameter, S...	OMIM:258315
Microlissencephaly-Micromelia Syndrome	Short nose, Micromelia, Adducted thumb	ORPHA:50810
Stickler Syndrome	Arachnodactyly, Anteverted nares, Depressed nasal bridge, Sensorineural hearing impairment, Depre...	ORPHA:828
Toriello-Lacassie-Droste Syndrome	Aganglionic megacolon, Anteverted nares, Hearing impairment, Abnormality of the ear, Short palm, ...	ORPHA:3339
Sacral Defect With Anterior Meningocele	Myeloschisis, Myelomeningocele, Meningocele, Hydrocephalus, Dermal sinus tract, Bilateral talipes...	OMIM:600145
Non-Progressive Cerebellar Ataxia With Intellectual Disability	Short ear, Bulbous nose, Wide nose, Anteverted nares	ORPHA:314647
Khan-Khan-Katsanis Syndrome	Frontal bossing, Postaxial polydactyly, Sensorineural hearing impairment, Intrauterine growth ret...	OMIM:618460
Neurofibromatosis Type 1 Due To Nf1 Mutation Or Intragenic Deletion	Sinusitis, Schwannoma, Ossifying fibroma, Lisch nodules, Neurofibrosarcoma, Hemangioma, Subcutane...	ORPHA:363700
Igg4-Related Kidney Disease	Lymphadenitis, Abnormal lung morphology, Lymphocytoma cutis, Tubulointerstitial nephritis, Cholec...	ORPHA:449395
Digeorge Syndrome	Acne, Parathyroid agenesis, Seborrheic dermatitis, Splenomegaly, Atelectasis, Recurrent pneumonia...	OMIM:188400
Vitamin K-Dependent Clotting Factors, Combined Deficiency Of, 1	Short nose, Epistaxis, Short distal phalanx of finger	OMIM:277450
Molybdenum Cofactor Deficiency, Complementation Group B	Neonatal death, Frontal bossing, Short nose	OMIM:252160
Infantile Hypotonia-Oculomotor Anomalies-Hyperkinetic Movements-Developmental Delay Syndrome	Equinus calcaneus, 2-3 toe syndactyly, Bilateral talipes equinovarus, Prominent nasal tip, Short ...	ORPHA:522077
Mandibuloacral Dysplasia With Type B Lipodystrophy	Acroosteolysis of distal phalanges (feet), Abnormal fingertip morphology, Osteolytic defects of t...	ORPHA:90154
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Macroglossia, Short nose, Hydrocephalus	ORPHA:505248
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Frontal bossing, Depressed nasal bridge, Arachnodactyly, Sagittal craniosynostosis, Absent thumb,...	ORPHA:500150
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Recurrent skin infections, Eczema, Keratitis, Cryptorchidism, Recurrent upper respiratory tract i...	OMIM:308205
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Hyperextensibility of the finger joints, Prominent nose, Brachycephaly, High palate, Chronic otit...	OMIM:619503
1P21.3 Microdeletion Syndrome	Short nose, Long ear, Broad nasal tip	ORPHA:293948
Pallister-Killian Syndrome	Anteriorly placed anus, Camptodactyly of 2nd-5th fingers, Short palm, Clinodactyly of the 5th fin...	OMIM:601803
Williams-Beuren Syndrome	Hallux valgus, Colonic diverticula, Inguinal hernia, Depressed nasal bridge, Anteverted nares, Br...	OMIM:194050
Molybdenum Cofactor Deficiency, Complementation Group A	Frontal bossing, Short nose	OMIM:252150
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Frontal bossing, Depressed nasal bridge, Underdeveloped nasal alae, Rhinitis, Short nose	OMIM:305100
Williams Syndrome	Rectal prolapse, Protruding ear, Clinodactyly of the 5th finger, Chronic otitis media, Spina bifi...	ORPHA:904
Penile Agenesis	Depressed nasal bridge, Posteriorly rotated ears, Rectal fistula, Tracheoesophageal fistula, Bila...	ORPHA:49
Peroxisome Biogenesis Disorder 4B	Short nose, Sensorineural hearing impairment	OMIM:614863
Geleophysic Dysplasia 2	Short foot, Short nose, Short palm	OMIM:614185
Lipodystrophy, Familial Partial, Type 7	Low-set ears, Short nose, Tinnitus, Narrow nasal ridge	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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