Genes Phenotypes Help, News, Blog

Please enable javascript if you want to log in to follow or stop following this gene.

Gene: Ctnnb1 MGI:88276

Gene Summary

Name:

catenin beta 1

Synonyms:

catenin (cadherin associated protein), beta 1, beta-catenin, beta catenin, Catnb

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.

Phenotype	Allele	Zyg	Life Stage	P Value
abnormal head morphology	Ctnnb1^Bfc	HET	Early adult	9.73×10^-11
abnormal startle reflex	Ctnnb1^Bfc	HET	Early adult	3.60×10^-09
increased bone mineral density	Ctnnb1^Bfc	HET	Early adult	1.44×10^-07
abnormal cranium morphology	Ctnnb1^Bfc	HET	Early adult	7.65×10^-06
increased startle reflex	Ctnnb1^Bfc	HET	Early adult	2.51×10^-08
abnormal bone mineralization	Ctnnb1^Bfc	HET	Early adult	1.90×10^-08

Download data as: TSV XLS

Select physiological systems to view:

Viewing: all phenotypes

Select physiological systems to view:

Viewing: all phenotypes

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 Ctnnb1 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 Ctnnb1 (14 diseases)
Human diseases predicted to be associated with Ctnnb1 (3076 diseases)

The table below shows human diseases associated to Ctnnb1 by orthology or direct annotation.

Disease	Matching phenotypes	Source
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Desmoid Tumor	Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,...	ORPHA:873
Familial Exudative Vitreoretinopathy	Cataract, Hearing impairment, Blindness, Vitreous floaters, Reduced visual acuity, Vitreous hemor...	ORPHA:891
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Broad nasal tip, Long philtrum, Hypoplasia of the corpus callosum, Thin upper lip vermilion, Prim...	OMIM:615075
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Broad nasal tip, Underdeveloped nasal alae, Long philtrum, Hypoplasia of the corpus callosum, Thi...	ORPHA:404473
Ovarian Cancer	Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma	OMIM:167000
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcification, Abnormal ...	ORPHA:54595
Medulloblastoma	Medulloblastoma	OMIM:155255
Hepatocellular Carcinoma	Hepatocellular carcinoma	OMIM:114550
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Pilomatrixoma	Neoplasm of head and neck, Pilomatrixoma	ORPHA:91414
Adrenocortical Carcinoma	Hypertrichosis, Palpitations, Adrenocorticotropic hormone deficiency, Hyperhidrosis, Abdominal pa...	ORPHA:1501
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain	ORPHA:33402
Exudative Vitreoretinopathy 7		OMIM:617572

The table below shows human diseases predicted to be associated to Ctnnb1 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epilepsy With Bilateral Occipital Calcifications	Celiac disease	OMIM:226810
Meckel Diverticulum	Meckel diverticulum	OMIM:155140
Blood Group, Cromer System	Protein-losing enteropathy	OMIM:613793
Familial Adenomatous Polyposis 3	Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal adenocarcinoma, Prostate c...	OMIM:616415
Colorectal Cancer, Hereditary Nonpolyposis, Type 6	Hereditary nonpolyposis colorectal carcinoma	OMIM:614331
Colorectal Cancer, Hereditary Nonpolyposis, Type 7	Hereditary nonpolyposis colorectal carcinoma	OMIM:614385
Muir-Torre Syndrome	Sebaceous gland carcinoma, Colonic diverticula, Colon cancer, Malignant genitourinary tract tumor...	OMIM:158320
Mutyh-Related Attenuated Familial Adenomatous Polyposis	Large intestinal polyposis, Adenomatous colonic polyposis, Adenocarcinoma of the colon, Colorecta...	ORPHA:247798
Polymerase Proofreading-Related Adenomatous Polyposis	Endometrial carcinoma, Neoplasm of the rectum, Brain neoplasm, Adenomatous colonic polyposis, Ade...	ORPHA:447877
Nthl1-Related Attenuated Familial Adenomatous Polyposis	Neoplasm of the skin, Meningioma, Pancreatic adenocarcinoma, Endometrial carcinoma, Duodenal aden...	ORPHA:454840
Hereditary Mixed Polyposis Syndrome	Hematochezia, Colon cancer, Adenomatous colonic polyposis, Endometrial carcinoma, Prostate cancer...	ORPHA:157794
Microphthalmia/Coloboma 10	Iris coloboma, Microcoria, Anophthalmia, Microphthalmia	OMIM:616428
Desmoid Disease, Hereditary	Desmoid tumors, Colorectal polyposis, Colon cancer, Breast carcinoma	OMIM:135290
Microphthalmia, Isolated, With Cataract 1	Cataract, Microphthalmia	OMIM:156850
Microphthalmia-Ankyloblepharon-Intellectual Disability Syndrome	Anophthalmia, Microphthalmia	ORPHA:85275
Apc-Related Attenuated Familial Adenomatous Polyposis	Osteoma, Fibrosarcoma, Desmoid tumors, Adrenocortical adenoma, Medulloblastoma, Multiple gastric ...	ORPHA:247806
Autoimmune Polyendocrine Syndrome, Type I, With Or Without Reversible Metaphyseal Dysplasia	Diarrhea, Tympanosclerosis, Keratoconjunctivitis, Reduced visual acuity, Iridocyclitis, Hypoparat...	OMIM:240300
Rapp-Hodgkin Syndrome	Carious teeth, Small nail, Hearing impairment, Supernumerary nipple, Recurrent otitis media, Prog...	OMIM:129400
Metaphyseal Modeling Abnormality, Skin Lesions, And Spastic Paraplegia	Increased bone mineral density	OMIM:250500
Agel Amyloidosis	Cataract, Depression, Visual impairment, Hearing impairment, Xerostomia, Bilateral ptosis, Bruisi...	ORPHA:85448
12q14 microdeletion syndrome	Osteopoikilosis	DECIPHER:76
Mismatch Repair Cancer Syndrome 1	Adenocarcinoma of the colon, T-cell lymphoma, Leukemia, Lymphoma, Oligodendroglioma, Ependymoma, ...	OMIM:276300
Trichothiodystrophy	Spasticity, Carious teeth, Cryptorchidism, Epicanthus, Abnormal pyramidal sign, Neutropenia, Brit...	ORPHA:33364
Attenuated Familial Adenomatous Polyposis	Thyroid adenoma, Duodenal polyposis, Astrocytoma, Large intestinal polyposis, Papilloma, Fibroma,...	ORPHA:220460
Osteomesopyknosis	Increased bone mineral density	OMIM:166450
Microphthalmia/Coloboma 5	Iris coloboma, Anophthalmia, Bilateral microphthalmos, Microphthalmia	OMIM:611638
Pyknoachondrogenesis	Increased bone mineral density	OMIM:265880
Basal Ganglia Calcification, Idiopathic, 5	Memory impairment, Basal ganglia calcification, Chorea, Cerebral calcification, Cerebellar calcif...	OMIM:615483
Immunodeficiency, Common Variable, 2	Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea, Impaired T...	OMIM:240500
Mixed Connective Tissue Disease	Xerostomia, Hepatomegaly, Meningitis, Purpura, Alopecia, Gastroesophageal reflux, Gastrointestina...	ORPHA:809
Kid Syndrome	Trichilemmoma, Prelingual sensorineural hearing impairment, Posterior blepharitis, Aplastic/hypop...	ORPHA:477
Trichothiodystrophy 1, Photosensitive	Small nail, Intestinal obstruction, Telangiectasia, Erythroderma, Brittle hair, Sparse hair, Macr...	OMIM:601675
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Vomiting, Bloody diarrhea, Esophagitis, Pancolitis, Ileitis, Abnormal...	OMIM:619079
Buschke-Ollendorff Syndrome	Joint stiffness, Flexion contracture, Osteopoikilosis	OMIM:166700
Microphthalmia, Isolated 1	Anophthalmia, Microphthalmia	OMIM:251600
Trichothiodystrophy 4, Nonphotosensitive	Microcornea, Small nail, Retrognathia, Trichorrhexis nodosa, Decreased fertility, Concave nail, N...	OMIM:234050
Tularemia	Pneumonia, Brain abscess, Cutaneous abscess, Cervical lymphadenopathy, Abnormal nasopharyngeal ad...	ORPHA:3392
Jejunal Atresia	Jejunal atresia	OMIM:243600
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Sparse eyelashes, Sensorineural hearing impairment, Absent axillary hair, Corneal ulceration, Spa...	OMIM:148210
Ossification Of The Posterior Longitudinal Ligament Of Spine	Increased bone mineral density, Ectopic ossification	OMIM:602475
Familial Adenomatous Polyposis 1	Adrenocortical adenoma, Fibroadenoma of the breast, Adenomatous colonic polyposis, Duodenal adeno...	OMIM:175100
Multiple Intestinal Atresia	Gastrointestinal atresia, Duodenal stenosis	ORPHA:2300
X-Linked Agammaglobulinemia	Sensorineural hearing impairment, Neutropenia, Meningitis, Recurrent cutaneous abscess formation,...	ORPHA:47
Ectodermal Dysplasia-Blindness Syndrome	Abnormality of the dentition, Cataract, Microcornea, Abnormality of vision, Hearing impairment, F...	ORPHA:1806
Punctate Palmoplantar Keratoderma Type 1	Adenocarcinoma of the colon, Pancreatic adenocarcinoma, Stomach cancer, Prostate cancer, Esophage...	ORPHA:79501
Immunodeficiency, Common Variable, 1	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Abnormal T cell count, Diarrhea,...	OMIM:607594
Diarrhea 11, Malabsorptive, Congenital	Diarrhea, Villous atrophy	OMIM:618662
Hypotrichosis 5	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Thin eyebrow, Hearing ab...	OMIM:612841
Odonto-Onycho Dysplasia-Alopecia Syndrome	Tooth malposition, Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Sparse body hair, Abnormal...	ORPHA:2722
Gist-Plus Syndrome	Gastrointestinal stroma tumor, Intestinal polyposis, Intussusception	OMIM:175510
Basal Ganglia Calcification, Idiopathic, 7, Autosomal Recessive	Mental deterioration, Memory impairment, Cerebellar dentate nucleus calcification, Basal ganglia ...	OMIM:618317
Osteosclerosis-Ichthyosis-Premature Ovarian Failure Syndrome	Increased bone mineral density	ORPHA:75325
Appendicitis, Proneness To	Abnormal large intestine morphology	OMIM:107700
Microphthalmia/Coloboma 3	Cataract, Iris coloboma, Microphthalmia	OMIM:610092
Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Ectodermal Dysplasia 4, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Sparse body hair, Congen...	OMIM:602032
Hypertelorism, Microtia, Facial Clefting Syndrome	Tessier cleft, Broad nasal tip, Cleft upper lip, Micrognathia, Narrow mouth, Microcephaly, Bifid ...	OMIM:239800
Kerion Celsi	Alopecia, Inflammatory abnormality of the skin, Lymphadenopathy, Recurrent skin infections, Recur...	ORPHA:499
Osteopoikilosis And Dacryocystitis	Osteopoikilosis	OMIM:166705
Recon Progeroid Syndrome	Red eye, Dental crowding, Proximal placement of thumb, Hyperconvex thumb nails, Long thumb, Hirsu...	OMIM:620370
Acrofacial Dysostosis, Weyers Type	Tessier cleft, Abnormality of the dentition, Conical tooth, Solitary median maxillary central inc...	ORPHA:952
Cataract 11, Multiple Types	Cataract, Developmental cataract, Microphthalmia	OMIM:610623
Mucoepithelial Dysplasia, Hereditary	Hearing impairment, Erythematous oral mucosa, Keratoconjunctivitis, Sparse hair, Cataract, Alopec...	OMIM:158310
Colorectal Cancer, Susceptibility To, 12	Colorectal polyposis, Carcinoma	OMIM:615083
Poikiloderma With Neutropenia	Carious teeth, Recurrent otitis media, Micrognathia, Low posterior hairline, Telangiectasia, Neut...	OMIM:604173
Nanophthalmos 1	Bilateral microphthalmos	OMIM:600165
Microphthalmia, Isolated 7	Microphthalmia	OMIM:613704
Nanophthalmos 2	Microphthalmia	OMIM:609549
Cataract 9, Multiple Types	Cataract, Microcornea, Progressive cataract, Developmental cataract, Microphthalmia, Iris coloboma	OMIM:604219
Microphthalmia/Coloboma 4	Microcornea, Microphthalmia	OMIM:251505
Dentin Dysplasia	Increased bone mineral density	ORPHA:1653
Tenorio Syndrome	Recurrent pneumonia, Mandibular prognathia, Gastroesophageal reflux, Cerebral palsy, Hypertrichos...	OMIM:616260
Diarrhea 9	Diarrhea, Villous atrophy	OMIM:618168
Microphthalmia, Syndromic 16	Sclerocornea, Anophthalmia, Microphthalmia	OMIM:611038
Microcephaly 5, Primary, Autosomal Recessive	Small cerebral cortex, Proptosis, Simplified gyral pattern, Hypoplasia of the corpus callosum, Ag...	OMIM:608716
Rubinstein-Taybi Syndrome 2	Carious teeth, Broad thumb, Short 5th toe, Micrognathia, Epicanthus, High palate, Syndactyly, Pro...	OMIM:613684
Osteomesopyknosis	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2777
Behçet Disease	Nausea and vomiting, Mitral regurgitation, Oral ulcer, Hemiparesis, Abnormal pyramidal sign, Atax...	ORPHA:117
Autoimmune Lymphoproliferative Syndrome, Type Iii	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased proportion of memory ...	OMIM:615559
Hypotrichosis 7	Abnormal sweat gland morphology, Sparse eyebrow, Abnormality of the dentition, Sparse body hair, ...	OMIM:604379
Tubulinopathy-Associated Dysgyria	Abnormal corpus callosum morphology, Cerebellar vermis hypoplasia, Abnormality of the internal ca...	ORPHA:467166
48,Xxyy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Epicanthus, Radioulnar synostosis, F...	ORPHA:10
Cryoglobulinemic Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Gastrointestinal infarctions, Abnormality of the liver, ...	ORPHA:91138
Osteosclerotic Metaphyseal Dysplasia	Increased bone mineral density, Clavicular sclerosis	OMIM:615198
Ectodermal Dysplasia 9, Hair/Nail Type	Abnormal sweat gland morphology, Abnormal sebaceous gland morphology, Atrichia, Abnormality of th...	OMIM:614931
Cockayne Syndrome	Lentiglobus, Spasticity, Dry hair, Carious teeth, Cryptorchidism, Action tremor, Delayed eruption...	ORPHA:191
Familial Adenomatous Polyposis	Stomach cancer, Hepatoblastoma, Brain neoplasm, Osteoma, Desmoid tumors, Angiofibromas, Neoplasm ...	ORPHA:733
Hemophagocytic Lymphohistiocytosis, Familial, 4	Hemophagocytosis, Skin rash, Splenomegaly, Hepatomegaly, Jaundice, Lymphadenopathy, Neutropenia, ...	OMIM:603552
Hypophosphatemic Rickets, Autosomal Recessive, 1	Craniosynostosis, Hypophosphatemic rickets, Rickets, Increased bone mineral density	OMIM:241520
Coasy Protein-Associated Neurodegeneration	Abnormal thalamus morphology, Eye of the tiger anomaly of globus pallidus, Abnormal corpus striat...	ORPHA:397725
Immunodeficiency, Common Variable, 8, With Autoimmunity	Inflammation of the large intestine, Recurrent otitis media, Pancytopenia, Erythema nodosum, Auto...	OMIM:614700
Ectodermal Dysplasia 7, Hair/Nail Type	Abnormal sweat gland morphology, Alopecia, Sparse eyebrow, Abnormality of the dentition, Dystroph...	OMIM:614929
Clouston Syndrome	Abnormality of the dentition, Alopecia, Sparse eyebrow, Cataract, Small nail, Fine hair, Photopho...	OMIM:129500
Chudley-Mccullough Syndrome	Polymicrogyria, Cerebellar dysplasia, Hypoplasia of the corpus callosum, Dysplastic corpus callos...	OMIM:604213
Supernumerary Nostril	Tessier cleft, Choanal atresia, Abnormality of ethmoid sinus, Supernumerary naris	ORPHA:141096
Isolated Pierre Robin Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:718
Melorheostosis With Osteopoikilosis	Osteopoikilosis, Abnormal cortical bone morphology	ORPHA:1879
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Generalized hypopigmentation of hair, Hypoplasia of the maxilla, Xe...	ORPHA:238468
Hypotrichosis 12	Abnormal sweat gland morphology, Sparse pubic hair, Dry hair, Abnormality of the dentition, Spars...	OMIM:615885
Microphthalmia, Syndromic 12	Wide nasal bridge, Neonatal death, Anophthalmia, Microphthalmia	OMIM:615524
Cataracts, Growth Hormone Deficiency, Sensory Neuropathy, Sensorineural Hearing Loss, And Skeletal Dysplasia	Dislocation of the femoral head, Micrognathia, Narrow mouth, Genu valgum, Distal sensory impairme...	OMIM:616007
Basal Ganglia Calcification, Idiopathic, 8, Autosomal Recessive	Mental deterioration, Basal ganglia calcification, Limb ataxia, Cerebellar calcifications, Thalam...	OMIM:618824
Colorectal Cancer	Hereditary nonpolyposis colorectal carcinoma, Transitional cell carcinoma of the bladder, Renal c...	OMIM:114500
Hepatoerythropoietic Porphyria	Seborrhoeic blepharitis, Facial hypertrichosis, Abnormal bleeding, Erythrodontia, Hemolytic anemi...	ORPHA:95159
Candidiasis, Familial, 1	Cutaneous anergy, Alopecia, Recurrent viral infections, Chronic mucocutaneous candidiasis, Premat...	OMIM:114580
Classical-Like Ehlers-Danlos Syndrome Type 2	Tooth malposition, Periodontitis, Elbow dislocation, Micrognathia, Cryptorchidism, Arachnodactyly...	ORPHA:536532
Cranioectodermal Dysplasia	Abnormality of the dentition, Short distal phalanx of finger, Rhizomelia, Finger syndactyly, Abno...	ORPHA:1515
Bile Acid Malabsorption, Primary, 1	Steatorrhea, Increased fecal bile acid, Fat malabsorption, Chronic diarrhea	OMIM:613291
Pierre Robin Sequence With Facial And Digital Anomalies	Micrognathia, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:311895
Cockayne Syndrome Type 3	Lentiglobus, Dry hair, Carious teeth, Premature graying of hair, Hypermetropia, Hepatomegaly, Cor...	ORPHA:90324
Oculomaxillofacial Dysostosis	Wide nasal bridge, Abnormality of the dentition, Tessier cleft, Abnormality of the nose, Underdev...	ORPHA:1794
Diarrhea 5, With Tufting Enteropathy, Congenital	Intractable diarrhea, Villous atrophy, Crypt hyperplasia	OMIM:613217
Dacryocystitis-Osteopoikilosis Syndrome	Increased bone mineral density, Osteopoikilosis	ORPHA:1562
Melorheostosis, Isolated	Increased bone mineral density, Hyperostosis	OMIM:155950
Keratosis Follicularis Spinulosa Decalvans, Autosomal Dominant	Cataract, Alopecia, Sparse eyebrow, Folliculitis, Keratitis, Carious teeth, Palmoplantar keratode...	OMIM:612843
Autoinflammatory Disease, Familial, Behcet-Like 3	Ileitis	OMIM:618287
Dyskeratosis Congenita	Carious teeth, Periodontitis, Hearing impairment, White hair, Premature graying of hair, Cirrhosi...	ORPHA:1775
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Hearing impairment, Sparse bod...	ORPHA:1008
Holocarboxylase Synthetase Deficiency	Perioral eczema, Alopecia, Eczematoid dermatitis, Anorexia, Nausea and vomiting, Keratoconjunctiv...	ORPHA:79242
Autoinflammation With Arthritis And Dyskeratosis	Hypereosinophilia, Corneal neovascularization, Autoimmune hemolytic anemia, Splenomegaly, Punctat...	OMIM:617388
Hypotrichosis 3	Abnormal sweat gland morphology, Abnormality of the dentition, Abnormal eyelash morphology, Abnor...	OMIM:613981
Witkop Syndrome	Abnormal sweat gland morphology, Fine hair, Agenesis of permanent teeth, Ridged nail, Microdontia...	OMIM:189500
Hypotrichosis-Lymphedema-Telangiectasia Syndrome	Abnormal sweat gland morphology, Alopecia, Abnormality of the dentition, Palmar telangiectasia, A...	OMIM:607823
Autoimmune Polyendocrinopathy Type 4	Atrophic gastritis, Non-caseating epithelioid cell granulomatosis, Alopecia, Rheumatoid arthritis...	ORPHA:227990
Hyperostosis Corticalis Generalisata	Generalized osteosclerosis, Abnormal cortical bone morphology, Cranial hyperostosis	ORPHA:3416
Epidermolysis Bullosa Simplex With Anodontia/Hypodontia	Alopecia, Toenail dysplasia, Ectopia lentis, Hearing impairment, Delayed eruption of teeth, Tooth...	ORPHA:2325
Ectodermal Dysplasia 12, Hypohidrotic/Hair/Tooth/Nail Type	Subungual hyperkeratosis, Natal tooth, Sparse lateral eyebrow, Eczematoid dermatitis, Acne invers...	OMIM:617337
Abetalipoproteinemia	Acanthocytosis, Hepatic steatosis, Positive Romberg sign, Talipes equinovarus, Cirrhosis, Ataxia,...	ORPHA:14
Spinocerebellar Ataxia, Autosomal Recessive 20	Spasticity, Hearing impairment, Clinodactyly, Sensorineural hearing impairment, Epicanthus, Talip...	OMIM:616354
Hypotrichosis, Congenital, With Juvenile Macular Dystrophy	Abnormality of the dentition, Reduced terminal:vellus ratio, Blindness, Reduced visual acuity, Pi...	OMIM:601553
Isolated Osteopoikilosis	Sclerotic foci within carpal bones, Tarsal sclerosis, Limitation of joint mobility, Abnormal pelv...	ORPHA:166119
Ifap Syndrome 2	Cataract, Atrichia, Posterior blepharitis, Keratitis, Nail dystrophy, Angular cheilitis, Keratoco...	OMIM:619016
Oculodentodigital Dysplasia	Spasticity, Carious teeth, Toe syndactyly, Hearing impairment, Finger syndactyly, Clinodactyly, S...	ORPHA:2710
Hypotrichosis 13	Abnormal sweat gland morphology, Abnormal dental morphology, Sparse eyelashes, Woolly hair, Spars...	OMIM:615896
Congenital Erythropoietic Porphyria	Facial hypertrichosis, Scleritis, Keratoconjunctivitis, Increased fecal coproporphyrin 1, Poikilo...	ORPHA:79277
Polycystic Lipomembranous Osteodysplasia With Sclerosing Leukoencephalopathy 2	Leukoencephalopathy, Cerebral cortical atrophy, Memory impairment, Basal ganglia calcification, H...	OMIM:618193
Lacrimoauriculodentodigital Syndrome	Low-set ears, Carious teeth, Toe syndactyly, Finger syndactyly, Clinodactyly, Xerostomia, Microgn...	ORPHA:2363
Primary Sjögren Syndrome	Arteritis, Xerostomia, Lymphopenia, Chronic hepatitis, Decreased proportion of CD4-positive helpe...	ORPHA:289390
Frontofacionasal Dysplasia	Tessier cleft, Choanal atresia, Depressed nasal ridge, Bifid nasal tip, Depressed nasal bridge, H...	ORPHA:1791
Autoimmune Polyendocrinopathy Type 3	Rheumatoid arthritis, Xerostomia, Autoimmune hypoparathyroidism, Iridocyclitis, Tubulointerstitia...	ORPHA:227982
Juvenile Polyposis Syndrome	Hematochezia, Intussusception, Duodenal adenocarcinoma, Multiple gastric polyps, Neoplasm of the ...	OMIM:174900
Gómez-López-Hernández Syndrome	Cerebellar vermis hypoplasia, Impaired pain sensation, Abnormal cerebellum morphology, Turricepha...	ORPHA:1532
Autosomal Agammaglobulinemia	Recurrent infections, Bronchiectasis, Sepsis, Hepatitis, Recurrent respiratory infections, Diarrh...	ORPHA:33110
Ramos-Arroyo Syndrome	Low-set ears, Keratitis, Abnormal hair morphology, Malar flattening, Upslanted palpebral fissure,...	OMIM:122430
Naegeli-Franceschetti-Jadassohn Syndrome	Carious teeth, Swelling of proximal interphalangeal joints, Flexion contracture of finger, Subung...	ORPHA:69087
Intellectual Developmental Disorder, Autosomal Dominant 21	Low-set ears, Long philtrum, Long eyelashes, Feeding difficulties, Narrow mouth, Cryptorchidism, ...	OMIM:615502
Van Buchem Disease	Thickened cortex of long bones, Increased bone mineral density, Cranial hyperostosis	OMIM:239100
Macrosomia-Microphthalmia-Cleft Palate Syndrome	Microcornea, Corneal opacity, Microphthalmia	ORPHA:2432
Deafness, Autosomal Dominant 34, With Or Without Inflammation	Conjunctivitis, Lymphadenopathy, Arthritis	OMIM:617772
Mandibulofacial Dysostosis With Macroblepharon And Macrostomia	Keratitis, Long philtrum, Downslanted palpebral fissures, Recurrent otitis media, Thick eyebrow, ...	OMIM:602562
Microphthalmia, Isolated 2	Opacification of the corneal stroma, Microphthalmia	OMIM:610093
Parc Syndrome	Alopecia, Microretrognathia, Absent eyelashes, Absent eyebrow, Cleft palate	OMIM:600331
Diarrhea 2, With Microvillus Atrophy, With Or Without Cholestasis	Abnormal intestine morphology, Villous atrophy, Protracted diarrhea	OMIM:251850
Cronkhite-Canada Syndrome	Diarrhea, Sparse body hair, Stomach cancer, Anorexia, Hepatomegaly, Abdominal pain, Cataract, Alo...	ORPHA:2930
Immunodeficiency, Common Variable, 3	Abnormal T cell count, Chronic decreased circulating total IgG, Recurrent otitis media, Decreased...	OMIM:613493
Microsporidiosis	Lymphadenitis, Abnormality of the spleen, Decreased proportion of CD4-positive helper T cells, Ke...	ORPHA:2552
Filippi Syndrome	2-4 toe syndactyly, Visual impairment, Finger clinodactyly, Hypertrichosis, Serrated incisors, Ab...	OMIM:272440
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Alopecia, Malnutrition, Corneal scarring, Narrow mouth, Nail dystrophy, Oral mucosal bl...	OMIM:226600
Chromomycosis	Keratitis, Recurrent bacterial infections, Eyelid retraction, Abnormal oral cavity morphology, Ke...	ORPHA:182
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Cockayne Syndrome Type 2	Male hypogonadism, Hearing impairment, Widely spaced primary teeth, Hypoplasia of the primary tee...	ORPHA:90322
Cerebrooculonasal Syndrome	Tessier cleft, Long philtrum, Widely spaced teeth, Microdontia, Solitary median maxillary central...	ORPHA:66625
Sin3A-Related Intellectual Disability Syndrome Due To A Point Mutation	Dysplastic corpus callosum, Short attention span, Mild malformation of cortical development, Abno...	ORPHA:500166
Hypocomplementemic Urticarial Vasculitis	Diarrhea, Cerebral palsy, Episcleritis, Skin rash, Splenomegaly, Sensorineural hearing impairment...	ORPHA:36412
Flynn-Aird Syndrome	Osteoporosis, Joint stiffness, Increased bone density with cystic changes, Increased bone mineral...	OMIM:136300
Endosteal Hyperostosis, Worth Type	Craniofacial hyperostosis, Generalized osteosclerosis, Abnormal cortical bone morphology, Clavicu...	ORPHA:2790
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Blepharophimosis, Horner syndrom...	OMIM:141300
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Xerostomia, Finger syndactyly, Hearing impairment, Open bite, Ankyloglossia, N...	ORPHA:2907
Acrofacial Dysostosis, Catania Type	Tessier cleft, Abnormality of the dentition, Carious teeth, Microretrognathia, Hypoplasia of the ...	ORPHA:1786
Sandhoff Disease	Hearing impairment, Cherry red spot of the macula, Congestive heart failure, Blindness, Splenomeg...	ORPHA:796
Eec Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Xerostomia, Sensorineural hearing impairment, A...	ORPHA:1896
Trichothiodystrophy 9, Nonphotosensitive	High, narrow palate, Sparse eyebrow, Dental malocclusion, Tiger tail banding, Nail dystrophy, Epi...	OMIM:619692
Agammaglobulinemia, X-Linked	Hearing impairment, Enteroviral dermatomyositis syndrome, Recurrent otitis media, Lymph node hypo...	OMIM:300755
Anophthalmia Plus Syndrome	Tessier cleft, Choanal atresia, Bilateral cleft palate, Abnormal nasal morphology, Non-midline cl...	ORPHA:1104
Microphthalmia With Cyst, Bilateral Facial Clefts, And Limb Anomalies	High, narrow palate, Choanal atresia, Depressed nasal ridge, Tessier cleft, Cleft upper lip, Clef...	OMIM:607597
Facial Clefting, Oblique, 1	Tessier number 4 facial cleft, Cleft palate, Cleft upper lip	OMIM:600251
Microcephaly And Chorioretinopathy, Autosomal Recessive, 3	Microphthalmia	OMIM:616335
Biotinidase Deficiency	Alopecia, Diarrhea, Vomiting, Visual loss, Skin rash, Splenomegaly, Sensorineural hearing impairm...	OMIM:253260
Cranioectodermal Dysplasia 4	Short distal phalanx of finger, Recurrent pneumonia, Broad distal phalanx of finger, Bone marrow ...	OMIM:614378
Renpenning Syndrome	Narrow mouth, Sensorineural hearing impairment, Epicanthus, Round ear, Anal atresia, Iris colobom...	ORPHA:3242
Cach Syndrome	Cerebellar atrophy, Lateral ventricle dilatation, Cerebral atrophy, Cerebellar vermis atrophy, Li...	ORPHA:135
Sarcoidosis	Abnormal lymph node morphology, Arrhythmia, Erythema nodosum, Tubulointerstitial nephritis, Hepat...	ORPHA:797
Blepharophimosis-Impaired Intellectual Development Syndrome	Low-set ears, Feeding difficulties, Cryptorchidism, Recurrent bronchitis, Sparse eyelashes, Epica...	OMIM:619293
Severe Combined Immunodeficiency With Sensitivity To Ionizing Radiation	Pneumonia, Abnormally low T cell receptor excision circle level, Recurrent upper respiratory trac...	OMIM:602450
Diarrhea 7, Protein-Losing Enteropathy Type	Diarrhea, Protein-losing enteropathy, Vomiting, Villous atrophy	OMIM:615863
Deafness-Enamel Hypoplasia-Nail Defects Syndrome	Abnormality of the dentition, High anterior hairline, Abnormality of nail color, Hearing impairme...	ORPHA:3220
Microphthalmia/Coloboma 7	Iris coloboma, Microphthalmia	OMIM:614497
Periodic Fever, Familial, Autosomal Dominant	Gastrointestinal hemorrhage, Vomiting, Erysipelas, Hepatic amyloidosis, Cervical lymphadenopathy,...	OMIM:142680
Oculodentodigital Dysplasia	Spasticity, Dry hair, Carious teeth, Clinodactyly, Tetraparesis, Joint contracture of the 5th fin...	OMIM:164200
Congenital Short Bowel Syndrome	Congenital shortened small intestine, Decreased intestinal transit time, Vomiting, Intestinal mal...	OMIM:615237
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate	Atresia of the external auditory canal, Supernumerary nipple, Sparse body hair, Sparse eyelashes,...	OMIM:106260
Frontonasal Dysplasia 3	Wide nasal bridge, Cleft palate, Underdeveloped nasal alae, Tessier cleft	OMIM:613456
Lymphoid Interstitial Pneumonia	Rheumatoid arthritis, Eczematoid dermatitis, Severe viral infection, Skin rash, Pulmonary venous ...	ORPHA:79128
Foveal Hypoplasia 2	Astigmatism, Axenfeld anomaly, Hypoplasia of the fovea, Posterior embryotoxon, Microphthalmia	OMIM:609218
Osteochondrosis Of The Metatarsal Bone	Joint stiffness, Thickened cortex of bones, Arthritis, Sclerosis of foot bone	ORPHA:564003
Osteosclerosis-Developmental Delay-Craniosynostosis Syndrome	Craniosynostosis, Increased bone mineral density	ORPHA:178377
Zimmermann-Laband Syndrome	Facial hypertrichosis, Large fleshy ears, Micrognathia, Sensorineural hearing impairment, Thicken...	ORPHA:3473
Autoimmune Polyendocrine Syndrome, Type Ii	Cataract, Alopecia, Band keratopathy, Thymoma, Hepatitis, Chronic mucocutaneous candidiasis, Exoc...	OMIM:269200
Chronic Diarrhea Due To Glucoamylase Deficiency	Vomiting, Abnormal small intestinal mucosa morphology, Nausea, Chronic diarrhea, Decreased small ...	ORPHA:103907
Nicolaides-Baraitser Syndrome	Cryptorchidism, Abnormal metacarpal morphology, Everted lower lip vermilion, Blepharophimosis, Ab...	ORPHA:3051
Coffin-Siris Syndrome 2	Small nail, Hearing impairment, Feeding difficulties, Cryptorchidism, High palate, Visual impairm...	OMIM:614607
Giant Cell Arteritis	Hearing impairment, Arrhythmia, Ataxia, Recurrent pharyngitis, Meningitis, Anorexia, Visual impai...	ORPHA:397
Alpha-Heavy Chain Disease	Alopecia, Abnormal small intestine morphology, Malabsorption, Splenomegaly, Dysgammaglobulinemia,...	ORPHA:100025
Gombo Syndrome	Microphthalmia	OMIM:233270
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency	Recurrent viral infections, Decreased proportion of CD8-positive T cells, Lymphopenia, Hepatosple...	ORPHA:169154
Polydactyly, Postaxial, Type A6	Abnormal sweat gland morphology, Postaxial foot polydactyly, Abnormal dental morphology, Broad ph...	OMIM:615226
Immunodeficiency 104	Pneumonia, Gastroesophageal reflux, Diarrhea, Chronic mucocutaneous candidiasis, Eczematoid derma...	OMIM:608971
Otodental Syndrome	Carious teeth, Periodontitis, Lens coloboma, Iris coloboma, Abnormality of canine, Cataract, Micr...	ORPHA:2791
Stevens-Johnson Syndrome/Toxic Epidermal Necrolysis Spectrum	Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Oral-pharyngeal dysphagia, Neutropeni...	ORPHA:95455
Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, T2 hypointense thalamus, Hyperintensity of cer...	ORPHA:1947
Trichomegaly-Retina Pigmentary Degeneration-Dwarfism Syndrome	Abnormality of the dentition, Alopecia, Decreased response to growth hormone stimulation test, Hy...	ORPHA:3363
Muckle-Wells Syndrome	Vasculitis, Progressive sensorineural hearing impairment, Camptodactyly of finger, Recurrent apht...	ORPHA:575
Schimke Immuno-Osseous Dysplasia	Minimal change glomerulonephritis, Lymphopenia, Hemiparesis, Abnormal intestine morphology, Neutr...	ORPHA:1830
Agammaglobulinemia 6, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Diarrhea, Recurrent otitis media, Decreased...	OMIM:612692
Night Blindness-Skeletal Anomalies-Dysmorphism Syndrome	Carious teeth, Retrognathia, Downslanted palpebral fissures, Low-set, posteriorly rotated ears, M...	ORPHA:1390
Lambert Syndrome	Intrauterine growth retardation, Branchial anomaly	ORPHA:1296
Marfanoid-Progeroid-Lipodystrophy Syndrome	High, narrow palate, Ectopia lentis, Retrognathia, Bruising susceptibility, Downslanted palpebral...	OMIM:616914
Classic Mycosis Fungoides	Alopecia, Eczematoid dermatitis, Abnormal lymphocyte morphology, Skin rash, Splenomegaly, Abnorma...	ORPHA:2584
Smith-Magenis Syndrome	Toe syndactyly, Micrognathia, Open mouth, Delayed eruption of primary teeth, Feeding difficulties...	ORPHA:819
Liang-Wang Syndrome	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Diastema, Megalo...	OMIM:618729
Gm1 Gangliosidosis	Low-set ears, Spasticity, Aspiration pneumonia, Cherry red spot of the macula, Hepatosplenomegaly...	ORPHA:354
Cockayne Syndrome Type 1	Diarrhea, Hearing impairment, Cryptorchidism, Anodontia, Delayed eruption of primary teeth, Ataxi...	ORPHA:90321
Ectodermal Dysplasia With Natal Teeth, Turnpenny Type	Sparse eyebrow, Sparse scalp hair, Natal tooth, Sparse eyelashes, Hypoplastic sweat glands, Oligo...	OMIM:601345
Alopecia Universalis Congenita	Alopecia universalis, Absent eyelashes, Absent eyebrow, Absent pubic hair, Absent axillary hair	OMIM:203655
Mueller-Weiss Syndrome	Sclerosis of foot bone, Joint stiffness, Limitation of movement at ankles, Knee osteoarthritis, A...	ORPHA:566943
Muenke Syndrome	Broad thumb, Dental malocclusion, Hearing impairment, Clinodactyly, Downslanted palpebral fissure...	OMIM:602849
49,Xxxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Epicanthus, Talipes equinovarus, Rad...	ORPHA:96264
Pancreatic Lipase Deficiency	Steatorrhea, Fat malabsorption	OMIM:614338
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Abnormal eosinophil morphology, Acute leu...	ORPHA:906
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Hirs...	ORPHA:2026
Sclerosteosis	Craniofacial hyperostosis, Abnormal cortical bone morphology, Increased bone mineral density	ORPHA:3152
Polymicrogyria Due To Tubb2B Mutation	Abnormal corpus callosum morphology, Cerebellar atrophy, Lateral ventricle dilatation, Dysgenesis...	ORPHA:300573
Developmental And Epileptic Encephalopathy 66	Macrodontia of permanent maxillary central incisor, Downturned corners of mouth, Widely spaced te...	OMIM:618067
Treacher-Collins Syndrome	Open bite, Micrognathia, Narrow mouth, High palate, Rectovaginal fistula, Choanal atresia, Hypopl...	ORPHA:861
Oculodentodigital Dysplasia, Autosomal Recessive	Low-set ears, Fifth finger distal phalanx clinodactyly, Small hand, Micrognathia, Narrow mouth, S...	OMIM:257850
Microphthalmia/Coloboma 6	Hypoplasia of the fovea, Optic disc hypoplasia, Bilateral microphthalmos	OMIM:613703
48,Xxxy Syndrome	Carious teeth, Elbow dislocation, Open bite, Cryptorchidism, Epicanthus, Talipes equinovarus, Rad...	ORPHA:96263
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:305100
Hypohidrotic Ectodermal Dysplasia With Immunodeficiency	Inflammation of the large intestine, Recurrent otitis media, Hypopituitarism, Increased circulati...	ORPHA:98813
Brachial Amelia, Cleft Lip, And Holoprosencephaly	Tessier cleft, Cleft upper lip, Absent septum pellucidum, Bilateral cleft palate, Bilateral cleft...	OMIM:601357
Hypotrichosis Simplex	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Sparse hair, Sparse scalp hair	ORPHA:55654
Burkitt Lymphoma	Gastrointestinal hemorrhage, Increased circulating lactate dehydrogenase concentration, Abnormal ...	ORPHA:543
Cortical Dysgenesis With Pontocerebellar Hypoplasia Due To Tubb3 Mutation	Cerebellar vermis hypoplasia, Plagiocephaly, Flat occiput, Abnormal thalamus morphology, Lateral ...	ORPHA:300570
Cohen Syndrome	Micrognathia, Open mouth, Genu valgum, Narrow palm, Reduced visual acuity, Feeding difficulties i...	OMIM:216550
Hypotrichosis 4	Alopecia, Sparse eyebrow, Sparse body hair, Sparse eyelashes, Uncombable hair, Sparse scalp hair	OMIM:146550
Infant Botulism	Mydriasis, Diplopia, Xerostomia, Hypotension, Cerebral palsy, Hypertension, Abdominal pain, Ptosi...	ORPHA:178478
Congenital Labioscrotal Agenesis-Cerebellar Malformation-Corneal Dystrophy-Facial Dysmorphism Syndrome	Low-set ears, Sparse eyebrow, Gastroesophageal reflux, Tented philtrum, Long philtrum, Anteriorly...	ORPHA:495875
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Abnormally low T cell receptor excision circle level, Bone marrow hypocellularity, Spasticity, He...	OMIM:617341
Intellectual Developmental Syndrome With Alopecia, Contractures, And Dwarfism	Alopecia, Carious teeth, Generalized hypoplasia of dental enamel, Large fleshy ears, Telecanthus,...	OMIM:203550
Trichodentoosseous Syndrome	Widely spaced teeth, Abnormal hair morphology, Microdontia, Taurodontia, Fragile nails	OMIM:190320
Pachydermoperiostosis	Small hand, Elevated circulating growth hormone concentration, Hepatomegaly, Genu varum, Gastroin...	ORPHA:2796
Proteasome-Associated Autoinflammatory Syndrome 3	Recurrent infections, Finger swelling, Elevated circulating hepatic transaminase concentration, L...	OMIM:617591
Crimean-Congo Hemorrhagic Fever	Gingival bleeding, Diarrhea, Morbilliform rash, Pancytopenia, Nausea and vomiting, Erythema nodos...	ORPHA:99827
Mucopolysaccharidosis-Like Syndrome With Congenital Heart Defects And Hematopoietic Disorders	Hepatosplenomegaly, Mitral regurgitation, Epicanthus, Tachycardia, Patent ductus arteriosus, Hype...	ORPHA:505248
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency	Diarrhea, Lymphopenia, Lymph node hypoplasia, Decreased proportion of CD4-positive helper T cells...	ORPHA:276
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Temporomandibular...	OMIM:614669
Proteasome-Associated Autoinflammatory Syndrome 1	Finger swelling, Premature graying of hair, Recurrent otitis media, Microcytic anemia, Chronic co...	OMIM:256040
Corpus Callosum Agenesis-Macrocephaly-Hypertelorism Syndrome	Chiari type I malformation, Plagiocephaly, Hypertelorism, Agenesis of corpus callosum	ORPHA:459074
Yao Syndrome	Uveitis, Inflammatory abnormality of the skin, Xerostomia, Diarrhea, Skin rash, Oral ulcer, Kerat...	OMIM:617321
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Blepharitis, Visual impairment, Photophobia, Abnormal eyebrow morpho...	ORPHA:37
Fryns Microphthalmia Syndrome	Tessier cleft, Bilateral cleft lip, Bilateral cleft palate	OMIM:600776
Igg4-Related Dacryoadenitis And Sialadenitis	Enlarged lacrimal glands, Xerostomia, Increased circulating IgG4 level, Abnormality of the subman...	ORPHA:79078
Lowry-Maclean Syndrome	Low-set ears, High, narrow palate, Hypoplasia of the maxilla, Talon cusp, Downturned corners of m...	ORPHA:2409
Alpha-Mannosidosis	Craniofacial hyperostosis, Abnormal helix morphology, Cataract, Dental malocclusion, Hearing impa...	ORPHA:61
Hypotrichosis 11	Alopecia universalis, Aplasia/Hypoplasia of the eyebrow, Sparse or absent eyelashes, Absent axill...	OMIM:615059
Typhoid	Epistaxis, Gastrointestinal hemorrhage, Diarrhea, Splenomegaly, Skin rash, Infectious encephaliti...	ORPHA:99745
Melorheostosis	Joint stiffness, Ectopic ossification in muscle tissue, Hyperostosis, Arthritis, Increased bone m...	ORPHA:2485
Camptodactyly Syndrome, Guadalajara Type 1	Toe syndactyly, Open bite, Narrow mouth, Epicanthus, Blepharophimosis, High palate, Microcornea, ...	ORPHA:1327
Atypical Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Depression, Frequent falls, Chorea, Blindness, Limb dystonia, Upper motor neuron dysf...	ORPHA:216873
Neurodevelopmental Disorder With Central Hypotonia And Dysmorphic Facies	Delayed eruption of teeth, Widely spaced teeth, Thick lower lip vermilion, Dislocation of the fem...	OMIM:619797
Coloboma, Ocular, With Or Without Hearing Impairment, Cleft Lip/Palate, And/Or Impaired Intellectual Development	Cataract, Iris coloboma, Microphthalmia	OMIM:120433
Neurodevelopmental Disorder With Seizures And Brain Atrophy	Cerebral cortical atrophy, Decreased thalamic volume, Hypoplasia of the corpus callosum, Cerebell...	OMIM:619072
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Hearing impairment, Thick eyebrow, Gingi...	ORPHA:2222
Microcephaly-Microcornea Syndrome, Seemanova Type	Cataract, Microcornea, Microphthalmia	ORPHA:2528
Aggressive Systemic Mastocytosis	Diarrhea, Hepatosplenomegaly, Pancytopenia, Hypersplenism, Elevated circulating alkaline phosphat...	ORPHA:98850
Cerebellar, Ocular, Craniofacial, And Genital Syndrome	Low-set ears, Tented philtrum, Long philtrum, Long eyelashes, Gait ataxia, Hirsutism, Low anterio...	OMIM:618479
Immunodeficiency 46	Sepsis, Chronic diarrhea, Recurrent sinopulmonary infections, Neutropenia, Chronic oral candidias...	OMIM:616740
Intellectual Disability, Birk-Barel Type	High, narrow palate, Highly arched eyebrow, Tongue fasciculations, Nasogastric tube feeding, Micr...	ORPHA:166108
Zygomycosis	Diarrhea, Ileitis, Pustule, Acute infectious pneumonia, Neutropenia, Abdominal pain, Endocarditis...	ORPHA:73263
Purine Nucleoside Phosphorylase Deficiency	Recurrent viral infections, Tetraparesis, Lymphopenia, Lymph node hypoplasia, Ataxia, Recurrent l...	OMIM:613179
Congenital Syphilis	Diarrhea, Hearing impairment, Hyperplasia of the maxilla, Extramedullary hematopoiesis, Hepatospl...	ORPHA:499009
Congenital Varicella Syndrome	Cataract, Microphthalmia	ORPHA:291
Trichothiodystrophy 3, Photosensitive	Low-set ears, Cataract, Recurrent infections, Carious teeth, Natal tooth, Hearing impairment, Mec...	OMIM:616395
Autoimmune Lymphoproliferative Syndrome, Type Iia	Follicular hyperplasia, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:603909
Roifman Syndrome	Recurrent otitis media, Hepatosplenomegaly, Bilateral single transverse palmar creases, Irregular...	ORPHA:353298
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive	Pneumonia, Diarrhea, Failure to thrive secondary to recurrent infections, Panhypogammaglobulinemi...	OMIM:601457
Classic Galactosemia	Diarrhea, Incoordination, Speech apraxia, Cryptorchidism, Action tremor, Decreased fertility in f...	ORPHA:79239
Osteosclerosis With Ichthyosis And Fractures	Cortical thickening of long bone diaphyses, Increased bone mineral density, Recurrent fractures	OMIM:166740
Hennekam Lymphangiectasia-Lymphedema Syndrome 1	Low-set ears, Joint contracture of the hand, Small hand, Cutaneous finger syndactyly, Narrow mout...	OMIM:235510
Thumb Deformity And Alopecia	Solitary median maxillary central incisor, Alopecia, Short thumb	OMIM:188150
Deafness, Nerve Type, With Mesenteric Diverticula Of Small Bowel And Progressive Sensory Neuropathy	Fat malabsorption, Jejunoileal ulceration, Small bowel diverticula	OMIM:221400
Ichthyosis, Congenital, Autosomal Recessive 11	Sparse eyebrow, Blepharitis, Sparse body hair, Curly eyelashes, Curly hair, Sparse eyelashes, Pil...	OMIM:602400
Sulfite Oxidase Deficiency, Isolated	Ectopia lentis, Delayed eruption of teeth, Eczematoid dermatitis, Fine hair, Generalized dystonia...	OMIM:272300
Generalized Eruptive Keratoacanthoma	Abnormal cornea morphology, Keratoconjunctivitis sicca, Ectropion, Conjunctivitis, Dysphagia	ORPHA:411777
Squamous Cell Carcinoma Of The Esophagus	Nausea and vomiting, Clinodactyly of the 5th toe, Feeding difficulties in infancy, Lymphadenopath...	ORPHA:99977
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Microcornea, Delayed eruption of teeth, Macrodontia, ...	ORPHA:3214
Osteopetrosis, Autosomal Dominant 1	Thickened cortex of long bones, Generalized osteosclerosis, Osteopetrosis, Calvarial osteoscleros...	OMIM:607634
Dyskeratosis Congenita, X-Linked	Carious teeth, Premature graying of hair, Pancytopenia, Cryptorchidism, Sparse eyelashes, Acute m...	OMIM:305000
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Skin rash, Abnormal gastric mucosa morphology, Infectious en...	ORPHA:779
Keratosis Follicularis Spinulosa Decalvans, X-Linked	Sparse eyebrow, Folliculitis, Keratitis, Palmoplantar keratoderma, Photophobia, Corneal dystrophy...	OMIM:308800
Arboleda-Tham Syndrome	Low-set ears, Enlarged proximal interphalangeal joints, Recurrent otitis media, Underdeveloped tr...	OMIM:616268
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Neurofibroma, Dysphagia, Intestinal obstruction	OMIM:606764
Congenital Bile Acid Synthesis Defect Type 1	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Abnormal bl...	ORPHA:79301
Rhizomelic Chondrodysplasia Punctata, Type 1	Alopecia, Rhizomelia, Spasticity, Flared metaphysis, Micrognathia, Malar flattening, Upslanted pa...	OMIM:215100
Crouzon Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Hearing impairment, Narrow internal aud...	ORPHA:207
Melanoma-Pancreatic Cancer Syndrome	Pancreatic adenocarcinoma, Oropharyngeal squamous cell carcinoma, Melanoma, Squamous cell carcino...	OMIM:606719
Alexander Disease Type I	Cerebellar atrophy, Focal T2 hyperintense basal ganglia lesion, Abnormal cerebral white matter mo...	ORPHA:363717
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Recessive	Keratoconus, Alopecia, Elevated gamma-glutamyltransferase level, Palmoplantar keratoderma, Elevat...	OMIM:242150
Coffin-Siris Syndrome 3	Recurrent infections, Visual impairment, Hearing impairment, Long philtrum, Hypertrichosis, Long ...	OMIM:614608
Autosomal Recessive Dopa-Responsive Dystonia	Oculogyric crisis, Generalized dystonia, Postural tremor, Limb dystonia, Myoclonus, Gait ataxia, ...	ORPHA:101150
Sézary Syndrome	Alopecia, Palmoplantar keratoderma, Abnormal lymphocyte morphology, Nail dystrophy, Splenomegaly,...	ORPHA:3162
Vici Syndrome	Low-set ears, Recurrent viral infections, Everted upper lip vermilion, Lymphopenia, Micrognathia,...	OMIM:242840
Deafness, Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Low-set ears, Hearing impairment, High myopia, Open mouth, Long thumb, Sensorineural hearing impa...	OMIM:220500
Atopic Keratoconjunctivitis	Keratitis, Allergic conjunctivitis, Corneal scarring, Corneal neovascularization, Blurred vision,...	ORPHA:163934
Spinocerebellar Ataxia With Epilepsy	Focal T2 hyperintense thalamic lesion, Gait ataxia, Dysmetria, Progressive neurologic deteriorati...	ORPHA:254881
Cardiofaciocutaneous Syndrome 1	Low-set ears, Palpebral thickening, Hearing impairment, Open bite, Micrognathia, Open mouth, Abse...	OMIM:115150
Wild Type Abeta2M Amyloidosis	Gastrointestinal hemorrhage, Abnormality of the thenar eminence, Intestinal pseudo-obstruction, T...	ORPHA:85446
Peroxisome Biogenesis Disorder 5A (Zellweger)	Low-set ears, Elevated gamma-glutamyltransferase level, Abnormal helix morphology, Small nail, He...	OMIM:614866
Vernal Keratoconjunctivitis	Red eye, Keratoconus, Abnormal cornea morphology, Allergic conjunctivitis, Corneal neovasculariza...	ORPHA:70476
Neurodegeneration, Childhood-Onset, With Cerebellar Atrophy	Cerebellar atrophy, Hypoplasia of the pons, Dysplastic corpus callosum, Microcephaly, Ataxia	OMIM:618276
Shigellosis	Microangiopathic hemolytic anemia, Cholestasis, Abscess, Anorexia, Abdominal pain, Purpura, Corne...	ORPHA:810
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome	Carious teeth, Toe syndactyly, Finger syndactyly, Micrognathia, Bilateral single transverse palma...	ORPHA:3253
Kury-Isidor Syndrome	Low-set ears, Alopecia, Finger syndactyly, Long philtrum, Hypertrichosis, Recurrent otitis media,...	OMIM:619762
Muckle-Wells Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Recurrent aphthous stomatitis, ...	OMIM:191900
Xeroderma Pigmentosum, Complementation Group D	Cataract, Spasticity, Keratitis, Photophobia, Corneal neovascularization, Sensorineural hearing i...	OMIM:278730
Oculofaciocardiodental Syndrome	Tooth malposition, Hearing impairment, Genu valgum, Sensorineural hearing impairment, Radioulnar ...	ORPHA:2712
Premature Ovarian Failure 12	Microphthalmia	OMIM:616947
Kawasaki Disease	Diarrhea, Nausea and vomiting, Arrhythmia, Recurrent pharyngitis, Jaundice, Meningitis, Abdominal...	ORPHA:2331
Body Mass Index Quantitative Trait Locus 20	Increased bone mineral density	OMIM:618406
Short Stature-Wormian Bones-Dextrocardia Syndrome	Low-set ears, Spasticity, Delayed eruption of teeth, Tooth agenesis, Downslanted palpebral fissur...	ORPHA:2863
Porphyria, Congenital Erythropoietic	Alopecia, Joint contracture of the hand, Cholelithiasis, Hypertrichosis, Erythrodontia, Corneal s...	OMIM:263700
Oliver-Mcfarlane Syndrome	Alopecia, Central heterochromia, Decreased response to growth hormone stimulation test, Long eyel...	OMIM:275400
Listeriosis	Arteritis, Diarrhea, Hearing impairment, Abscess, Hemiparesis, Pustule, Ataxia, Jaundice, Meningi...	ORPHA:533
Dentin Dysplasia With Sclerotic Bones	Cortical sclerosis	OMIM:125440
Zika Virus Disease	Myelitis, Vomiting, Wrist swelling, Subcutaneous hemorrhage, Skin rash, Transient hearing impairm...	ORPHA:448237
Snijders Blok-Campeau Syndrome	Low-set ears, Widely spaced teeth, Speech apraxia, Feeding difficulties, Astigmatism, Taurodontia...	OMIM:618205
Craniofaciofrontodigital Syndrome	Aortic valve stenosis, Mitral regurgitation, Hemiparesis, Epicanthus, Arrhythmia, Persistent feta...	ORPHA:363705
Erythermalgia, Primary	Diarrhea, Xerostomia, Palpitations, Blurred vision, Keratoconjunctivitis sicca, Constipation, Hyp...	OMIM:133020
Anterior Segment Dysgenesis 7	Cataract, Microcornea, Sclerocornea, Corneal opacity, Ocular anterior segment dysgenesis, Anterio...	OMIM:269400
Pseudohypoparathyroidism Type 1B	Cataract, Pituitary resistance to thyroid hormone, Depression, Delayed eruption of teeth, Larynge...	ORPHA:94089
Hyper-Ige Syndrome 3, Autosomal Recessive, With Recurrent Infections	Recurrent otitis media, Increased circulating IgE level, Micrognathia, Sterile abscess, High pala...	OMIM:618282
Craniosynostosis 6	Plagiocephaly, Cerebellar atrophy, Lateral ventricle dilatation, Parietal foramina, Right unilamb...	OMIM:616602
Terminal Osseous Dysplasia-Pigmentary Defects Syndrome	Alopecia, Restrictive cardiomyopathy, Clinodactyly, Mitral regurgitation, Epicanthus, Syndactyly,...	ORPHA:88630
Hidrotic Ectodermal Dysplasia	Small nail, Hearing impairment, Sparse eyelashes, Absent eyebrow, Absent axillary hair, Sparse ha...	ORPHA:189
Dyskeratosis Congenita, Autosomal Dominant 3	Ataxia, Bone marrow hypocellularity, Alopecia, Gastrointestinal hemorrhage, Aplastic anemia, Hear...	OMIM:613990
Progeria-Short Stature-Pigmented Nevi Syndrome	Recurrent viral infections, Microcytic anemia, Micrognathia, Hepatic steatosis, Low posterior hai...	ORPHA:2959
Systemic Lupus Erythematosus 17	Hypertensive crisis, Alopecia, Myelitis, Lymphopenia, Leukopenia, Malar rash, Chorea, Mitral regu...	OMIM:301080
Mcdonough Syndrome	Short palpebral fissure, Dental malocclusion, Low-set, posteriorly rotated ears, Open bite, Micro...	ORPHA:2471
Frontonasal Dysplasia 2	Wide nasal bridge, Cerebellar vermis hypoplasia, Depressed nasal ridge, Bifid nasal tip, Depresse...	OMIM:613451
Omenn Syndrome	Pneumonia, Alopecia, Sepsis, Short toe, Abnormal lymphocyte morphology, Leukocytosis, Splenomegal...	ORPHA:39041
Tumor Necrosis Factor Receptor 1 Associated Periodic Syndrome	Diarrhea, Intestinal obstruction, Recurrent pharyngitis, Abdominal pain, Vasculitis, Erysipelas, ...	ORPHA:32960
Hyperimmunoglobulinemia D With Periodic Fever	Vasculitis, Gastrointestinal hemorrhage, Diarrhea, Recurrent aphthous stomatitis, Intestinal obst...	ORPHA:343
Waldenström Macroglobulinemia	Gingival bleeding, Diarrhea, Hearing impairment, Abnormal retinal vascular morphology, Anorexia, ...	ORPHA:33226
Isolated Congenital Hypoglossia/Aglossia	Temporomandibular joint ankylosis, Microglossia, Micrognathia, Cleft palate	ORPHA:141152
Anterior Segment Dysgenesis 5	Microcornea, Peters anomaly, Hypoplasia of the iris, Rieger anomaly, Hypoplasia of the fovea, Ant...	OMIM:604229
Neuroferritinopathy	Eye of the tiger anomaly of globus pallidus, Frontal lobe dementia, Chorea, Abnormal basal gangli...	ORPHA:157846
Xeroderma Pigmentosum, Complementation Group G	Cataract, Microphthalmia	OMIM:278780
Pili Torti-Onychodysplasia Syndrome	Alopecia universalis, Alopecia, Cleft lip, Palmoplantar keratoderma, Eczematoid dermatitis, Spars...	ORPHA:2890
Roifman Syndrome	Recurrent otitis media, Hepatomegaly, Short metacarpal, Prominent eyelashes, Eczematoid dermatiti...	OMIM:616651
Hypomelanosis Of Ito	Cataract, Alopecia, Clinodactyly, Radial deviation of finger, Thick lower lip vermilion, Epicanth...	OMIM:300337
Gastrointestinal Stromal Tumor	Gastrointestinal hemorrhage, Neoplasm of the colon, Esophageal neoplasm, Intestinal obstruction, ...	ORPHA:44890
Dysplastic Cortical Hyperostosis, Kozlowski-Tsuruta Type	Increased bone mineral density, Abnormal cortical bone morphology	ORPHA:2204
Corneal Dystrophy, Groenouw Type I	Cataract, Punctate corneal dystrophy, Nodular corneal dystrophy, Granular corneal dystrophy	OMIM:121900
Mucopolysaccharidosis Type 3	Craniofacial hyperostosis, Vocal cord paresis, Spasticity, Hearing impairment, Aspiration pneumon...	ORPHA:581
Trichorhinophalangeal Syndrome, Type I	Carious teeth, Clinodactyly, Swelling of proximal interphalangeal joints, Micrognathia, Thin nail...	OMIM:190350
Thumb Deformity-Alopecia-Pigmentation Anomaly Syndrome	Onychogryposis of fingernail, Alopecia, Ridged fingernail, Palmoplantar keratoderma, Finger synda...	ORPHA:2251
Robin Sequence-Oligodactyly Syndrome	Micrognathia, Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Epithelial Recurrent Erosion Dystrophy	Corneal scarring, Irregular astigmatism, Blurred vision, Subepithelial corneal opacities, Recurre...	ORPHA:293381
H Syndrome	Hearing impairment, Microcytic anemia, Hepatosplenomegaly, Psoriasiform dermatitis, Recurrent pha...	ORPHA:168569
Microphthalmia With Brain And Digit Anomalies	Cataract, Microcornea, Anophthalmia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:139471
Microphthalmia With Hyperopia, Retinal Degeneration, Macrophakia, And Dental Anomalies	Microphthalmia	OMIM:251700
Antisynthetase Syndrome	Aortic regurgitation, Xerostomia, Skin rash, Myositis, Keratoconjunctivitis sicca, Pulmonary arte...	ORPHA:81
Immunodysregulation, Polyendocrinopathy, And Enteropathy, X-Linked	Alopecia, Eczematoid dermatitis, Hepatitis, Increased circulating IgE level, Decreased FOXP3-expr...	OMIM:304790
22Q11.2 Deletion Syndrome	Low-set ears, Carious teeth, Hearing impairment, Micrognathia, Narrow mouth, Cryptorchidism, Arac...	ORPHA:567
Aarskog-Scott Syndrome	Small hand, Finger syndactyly, Megalocornea, Cryptorchidism, Epicanthus, Everted lower lip vermil...	ORPHA:915
Microphthalmia, Isolated 6	Microcornea, Microphthalmia	OMIM:613517
Biotinidase Deficiency	Alopecia, Spastic paraparesis, Recurrent viral infections, Eczematoid dermatitis, Hearing impairm...	ORPHA:79241
Adult Syndrome	Absent nipple, Toe syndactyly, Fair hair, Eczematoid dermatitis, Premature loss of permanent teet...	OMIM:103285
Cri-Du-Chat Syndrome	Low-set ears, Recurrent infections in infancy and early childhood, Hearing impairment, Premature ...	OMIM:123450
Ichthyosis Follicularis-Alopecia-Photophobia Syndrome	Abnormal hair morphology, Cryptorchidism, Scleritis, Abnormal nasolacrimal system morphology, Abs...	ORPHA:2273
Acute Generalized Exanthematous Pustulosis	Elevated circulating hepatic transaminase concentration, Cholestasis, Predominantly dermal neutro...	ORPHA:293173
Immunodeficiency 94 With Autoinflammation And Dysmorphic Facies	Low-set ears, Recurrent pneumonia, Mandibular prognathia, Hypertrichosis, Downslanted palpebral f...	OMIM:619750
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia	Persistent CMV viremia, Recurrent viral infections, Decreased specific anti-polysaccharide antibo...	OMIM:300853
Fanconi Anemia, Complementation Group S	Dental malocclusion, Clinodactyly, Thick upper lip vermilion, Macrodontia, Long eyelashes, Upslan...	OMIM:617883
Whipple Disease	Diarrhea, Abnormal pyramidal sign, Anorexia, Hepatomegaly, Ataxia, Abdominal pain, Gastrointestin...	ORPHA:3452
Cataract 42	Cataract, Developmental cataract	OMIM:115900
Lynch Syndrome 8	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colon cancer, Adenomatous co...	OMIM:613244
Neurodevelopmental Disorder With Microcephaly And Speech Delay, With Or Without Brain Abnormalities	Leukoencephalopathy, Reduced cerebral white matter volume, Secondary microcephaly, Dysplastic cor...	OMIM:620317
Immunodeficiency 38 With Basal Ganglia Calcification	Recurrent mycobacterial infections, Recurrent viral infections, Severe viral infection, BCGitis, ...	OMIM:616126
Intellectual Developmental Disorder With Abnormal Behavior, Microcephaly, And Short Stature	Low-set ears, Micrognathia, Open mouth, Sensorineural hearing impairment, Epicanthus, Everted low...	OMIM:618342
Pili Torti	Abnormality of the dentition, Alopecia, Hearing impairment, Abnormal dental enamel morphology, Ab...	ORPHA:2889
Diarrhea 12, With Microvillus Atrophy	Vomiting, Secretory diarrhea, Villous atrophy, Microvillar PAS-positive secretory granules, Micro...	OMIM:619445
Chronic Graft Versus Host Disease	Diarrhea, Xerostomia, Pancytopenia, Anorexia, Abdominal pain, Dysphagia, Alopecia, Gastroesophage...	ORPHA:99921
Ectodermal Dysplasia-Syndactyly Syndrome 1	2-3 toe cutaneous syndactyly, Alopecia, Coarse hair, Conical tooth, Small nail, Widely spaced tee...	OMIM:613573
Intermediate Osteopetrosis	Cortical sclerosis, Osteomyelitis, Increased susceptibility to fractures, Abnormality of bone min...	ORPHA:210110
Classic Glucose Transporter Type 1 Deficiency Syndrome	Spasticity, Chorea, Abnormal erythrocyte morphology, Myoclonus, Cyanosis, Hemiparesis, Paralysis,...	ORPHA:71277
Lymphedema-Distichiasis Syndrome	Cataract, Cleft upper lip, Ectropion, Photophobia, Recurrent urinary tract infections, Corneal er...	ORPHA:33001
Perifolliculitis Capitis Abscedens Et Suffodiens, Familial	Perifolliculitis, Alopecia, Alopecia of scalp	OMIM:260910
Adams-Oliver Syndrome	Finger syndactyly, Congenital hepatic fibrosis, Hemiparesis, Abnormal metacarpal morphology, Cirr...	ORPHA:974
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Downslanted palpebral fissures, Abnormal dental morphology, Thick eyeb...	ORPHA:2025
Inhalational Anthrax	Abnormal sweat gland morphology, Hypotension, Sepsis, Vomiting, Internal hemorrhage	ORPHA:247257
Incontinentia Pigmenti	Spasticity, Finger syndactyly, Supernumerary nipple, Abnormal hair morphology, Abnormal hand morp...	ORPHA:464
Erythrokeratodermia Variabilis	Cataract, Alopecia, Hearing impairment, Abnormal hair morphology, Patchy palmoplantar hyperkerato...	ORPHA:317
Axial Osteomalacia	Increased bone mineral density, Osteomalacia	OMIM:109130
Meckel Syndrome, Type 8	Anophthalmia, Short nose, Microphthalmia	OMIM:613885
Auriculocondylar Syndrome 4	Micrognathia, Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Hermansky-Pudlak Syndrome	Neutropenia, Anorexia, Abdominal pain, Visual impairment, Menometrorrhagia, Cataract, Gastrointes...	ORPHA:79430
Alopecia Areata 1	Alopecia universalis, Alopecia totalis, Patchy alopecia, Trachyonychia, Nail pits	OMIM:104000
Familial Cold Autoinflammatory Syndrome 1	Hearing impairment, Aphthous ulcer, Leukocytosis, Skin rash, Arthritis, Conjunctivitis, Uveitis	OMIM:120100
Brachydactyly, Coloboma, And Anterior Segment Dysgenesis	Iris coloboma, Peters anomaly, Ocular anterior segment dysgenesis, Microphthalmia	OMIM:610023
Osteopetrosis, Autosomal Dominant 2	Hip osteoarthritis, Mandibular osteomyelitis, Fractures of the long bones, Generalized osteoscler...	OMIM:166600
Autosomal Dominant Keratitis	Cataract, Microcornea, Keratitis, Bilateral microphthalmos, Abnormal corneal limbus morphology, A...	ORPHA:2334
Selective Igm Deficiency	Allergic rhinitis, Rheumatoid arthritis, Lymphadenitis, Decreased proportion of CD8-positive T ce...	ORPHA:331235
Cutaneous Telangiectasia And Cancer Syndrome, Familial	Alopecia, Yellow nails, Carious teeth, Sparse lateral eyebrow, Ridged nail, Facial telangiectasia...	OMIM:614564
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity	Recurrent viral infections, Increased circulating IgE level, Hepatosplenomegaly, Psoriasiform der...	OMIM:606367
Microphthalmia, Isolated 8	True anophthalmia, Optic nerve hypoplasia, Anophthalmia, Microphthalmia	OMIM:615113
Dermatitis, Atopic	Allergic rhinitis, Atopic dermatitis, Keratoconus, Cataract, Eczematoid dermatitis, Conjunctiviti...	OMIM:603165
Colorectal Cancer, Susceptibility To, 10	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Colorectal polyposis	OMIM:612591
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 2, With Impaired Intellectual Development	Fusion of the left and right thalami, Abnormality of the anterior commissure, Hypoplasia of the p...	OMIM:617542
Aredyld Syndrome	Craniofacial hyperostosis, Sparse body hair, Low-set, posteriorly rotated ears, Abnormal dental e...	ORPHA:1133
Cinca Syndrome	Abnormality of neutrophils, Hearing impairment, Visual impairment, Blindness, Leukocytosis, Splen...	ORPHA:1451
Ectodermal Dysplasia And Immunodeficiency 2	Conical tooth, Recurrent infection of the gastrointestinal tract, Splenomegaly, Chronic diarrhea,...	OMIM:612132
Hamamy Syndrome	Low-set ears, Hypochromic anemia, Microcytic anemia, Micrognathia, High myopia, Cryptorchidism, M...	OMIM:611174
Craniodiaphyseal Dysplasia, Autosomal Dominant	Craniofacial hyperostosis, Craniofacial osteosclerosis, Diaphyseal sclerosis, Cortical sclerosis	OMIM:122860
Tumoral Calcinosis, Normophosphatemic, Familial	Gingivitis, Conjunctivitis	OMIM:610455
Griscelli Syndrome	Silver-gray hair, Iris hypopigmentation, Bone marrow hypocellularity, Spasticity, Hepatitis, Whit...	ORPHA:381
African Trypanosomiasis	Diarrhea, Hepatosplenomegaly, Hemiparesis, Arrhythmia, Apathy, Hepatomegaly, Jaundice, Choreoathe...	ORPHA:3385
Scrub Typhus	Hypotension, Abnormal bleeding, Nausea and vomiting, Splenomegaly, Skin rash, Infectious encephal...	ORPHA:83317
Hypermobile Ehlers-Danlos Syndrome	Keratoconus, Elbow dislocation, High myopia, Decreased fertility, Nausea and vomiting, Arachnodac...	ORPHA:285
Craniosynostosis 3	Dental malocclusion, Single transverse palmar crease, Low anterior hairline, Ptosis, Hallux valgu...	OMIM:615314
Isolated Growth Hormone Deficiency, Type Iii, With Agammaglobulinemia	Diarrhea, Recurrent enteroviral infections, Hearing impairment, Enteroviral dermatomyositis syndr...	OMIM:307200
Maxillonasal Dysplasia	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Mandibular prognathia, ...	ORPHA:1248
Bullous Dystrophy, Hereditary Macular Type	Short finger, Alopecia totalis, Acrocyanosis, Abnormality of the nail, Tapered finger	OMIM:302000
Trichinellosis	Diplopia, Central retinal artery occlusion, Increased circulating IgE level, Hemiplegia, Vertigo,...	ORPHA:863
Temple-Baraitser Syndrome	Broad thumb, Everted upper lip vermilion, Long hallux, Absent toenail, Open mouth, Epicanthus, Ev...	ORPHA:420561
Juvenile Neuronal Ceroid Lipofuscinosis	Cerebellar atrophy, Cerebral atrophy, Focal T2 hyperintense thalamic lesion, Focal T2 hyperintens...	ORPHA:79264
Usher Syndrome Type 1	Iris hypopigmentation, Cataract, Depression, Vestibular hypofunction, Abnormal dental enamel morp...	ORPHA:231169
Activated Pi3K-Delta Syndrome	Pneumonia, Recurrent tonsillitis, Severe varicella zoster infection, Hearing impairment, Recurren...	ORPHA:397596
Respiratory Infections, Recurrent, And Failure To Thrive With Or Without Diarrhea	Gastroesophageal reflux, Vomiting, Hilar lymph node enlargement, Recurrent otitis media, Cholesta...	OMIM:620233
Leukocyte Adhesion Deficiency	Lymphocytic interstitial pneumonia, Impaired neutrophil chemotaxis, Acute myeloid leukemia, Glome...	ORPHA:2968
Nanophthalmos	Microphthalmia	ORPHA:35612
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Downsla...	OMIM:157980
Hemochromatosis, Type 2A	Dilated cardiomyopathy, Cardiomyopathy, Congestive heart failure, Azoospermia, Splenomegaly, Hypo...	OMIM:602390
Bosch-Boonstra-Schaaf Optic Atrophy Syndrome	Spasticity, Prominent antihelix, Retrognathia, Prominent fingertip pads, Upslanted palpebral fiss...	OMIM:615722
Neurodevelopmental Disorder With Impaired Intellectual Development, Hypotonia, And Ataxia	Dental malocclusion, Downslanted palpebral fissures, Gait ataxia, Epicanthus, Long fingers, High ...	OMIM:618292
Monosomy 18P	Tooth malposition, Alopecia, Carious teeth, Downturned corners of mouth, Generalized dystonia, Mi...	ORPHA:1598
Retinal Dystrophy, Juvenile Cataracts, And Short Stature Syndrome	Cataract, Dental malocclusion, Widely spaced teeth, Attenuation of retinal blood vessels, Malar f...	OMIM:616108
Retinitis Pigmentosa-Juvenile Cataract-Short Stature-Intellectual Disability Syndrome	Low-set ears, Poor fine motor coordination, Dental malocclusion, Diastema, Downslanted palpebral ...	ORPHA:436245
Hereditary Amyloidosis With Primary Renal Involvement	Diarrhea, Abnormal lymph node morphology, Hepatosplenomegaly, Intestinal obstruction, Oligozoospe...	ORPHA:85450
Gaba-Transaminase Deficiency	Lethargy, Retrognathia, Feeding difficulties, Downslanted palpebral fissures	OMIM:613163
Immune Dysregulation-Polyendocrinopathy-Enteropathy-X-Linked Syndrome	Inflammatory abnormality of the skin, Increased circulating IgE level, Psoriasiform dermatitis, C...	ORPHA:37042
Alopecia Areata 2	Alopecia universalis, Patchy alopecia, Alopecia of scalp, Alopecia totalis	OMIM:610753
Ogden Syndrome	Low-set ears, High, narrow palate, Microretrognathia, Cardiogenic shock, Everted upper lip vermil...	ORPHA:276432
Diencephalic-Mesencephalic Junction Dysplasia Syndrome 2	Abnormal basal ganglia morphology, Decreased thalamic volume	OMIM:618646
Severe Canavan Disease	Spasticity, Gastroesophageal reflux, Vomiting, Oral-pharyngeal dysphagia, Nasogastric tube feedin...	ORPHA:314911
Alopecia-Intellectual Disability Syndrome	Alopecia, Hearing impairment, Sparse body hair, Macrotia, Brachydactyly, Split hand, Aplasia/Hypo...	ORPHA:2850
Usmani-Riazuddin Syndrome, Autosomal Recessive	Low-set ears, Spasticity, Conjunctival hyperemia, Epicanthus, High palate, Posteriorly rotated ears	OMIM:619548
Temtamy Preaxial Brachydactyly Syndrome	Highly arched eyebrow, Clinodactyly, Diastema, Carpal synostosis, Microdontia, Radioulnar synosto...	OMIM:605282
Cerebrooculofacioskeletal Syndrome 1	Cataract, Recurrent pneumonia, Carious teeth, Joint contracture of the hand, Delayed eruption of ...	OMIM:214150
Short Syndrome	Abnormality of the dentition, Alopecia, Abnormal mandible morphology, Megalocornea, Abnormal dent...	ORPHA:3163
Hereditary Sensory And Autonomic Neuropathy Type 4	Painless fractures due to injury, Abscess, Distal sensory impairment, Orthostatic hypotension due...	ORPHA:642
Catifa Syndrome	Tooth malposition, Cleft lip, Delayed eruption of teeth, Long philtrum, Increased overbite, Epica...	OMIM:618761
Rubinstein-Taybi Syndrome 1	Low-set ears, Facial hypertrichosis, Broad thumb, Hearing impairment, Incoordination, Feeding dif...	OMIM:180849
Oculocerebrocutaneous Syndrome	Tessier cleft, Polymicrogyria, Aplasia/Hypoplasia of the corpus callosum, Cerebellar hypoplasia, ...	ORPHA:1647
Hypodontia-Dysplasia Of Nails Syndrome	Abnormality of the dentition, Conical tooth, Ridged fingernail, Thin toenail, Delayed eruption of...	ORPHA:2228
Pediatric Systemic Lupus Erythematosus	Diarrhea, Microangiopathic hemolytic anemia, Lymphopenia, Oral ulcer, Abdominal distention, Abdom...	ORPHA:93552
Juvenile Temporal Arteritis	Allergic rhinitis, Conjunctivitis, Eosinophilia, Leukocytosis	ORPHA:26137
Gomez-Lopez-Hernandez Syndrome	Low-set ears, Alopecia, Depression, Downslanted palpebral fissures, Decreased response to growth ...	OMIM:601853
Short Stature, Hearing Loss, Retinitis Pigmentosa, And Distinctive Facies	Low-set ears, Short palpebral fissure, Broad thumb, Broad distal phalanx of finger, Hearing impai...	OMIM:617763
Uveal Coloboma-Cleft Lip And Palate-Intellectual Disability	Cataract, Posterior embryotoxon, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:1473
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut-	Cardiomyopathy, Anorexia, Nausea and vomiting, Splenomegaly, Hepatomegaly, Lethargy, Pancreatitis...	ORPHA:79312
Congenital Muscular Dystrophy With Cerebellar Involvement	Diffuse white matter abnormalities, Decreased thalamic volume, Hypoplasia of the pons, Polymicrog...	ORPHA:370959
Weiss-Kruszka Syndrome	Decreased response to growth hormone stimulation test, Dysplastic corpus callosum, Hypertelorism	ORPHA:502430
Otodental Dysplasia	Delayed eruption of teeth, Long philtrum, Agenesis of premolar, Sensorineural hearing impairment,...	OMIM:166750
Graham Little-Piccardi-Lassueur Syndrome	Alopecia, Sparse axillary hair, Sparse pubic hair, Sparse scalp hair	ORPHA:505
Hypohidrosis With Abnormal Palmar Dermal Ridges	Abnormal palmar dermal ridges, Decreased number of sweat glands, Hypohidrosis	OMIM:241120
Mucopolysaccharidosis, Type Ii	Recurrent pneumonia, Diarrhea, Delayed eruption of teeth, Hearing impairment, Hypertrichosis, Rec...	OMIM:309900
Hepatic Venoocclusive Disease With Immunodeficiency	Decreased circulating IgG level, Abnormality of the liver, Absence of lymph node germinal center	OMIM:235550
Diffuse Cutaneous Mastocytosis	Gastrointestinal hemorrhage, Hypotension, Elevated total serum tryptase, Diarrhea, Vomiting, Maln...	ORPHA:79456
Lessel-Kreienkamp Syndrome	Hypoplastic helices, Gastroesophageal reflux, Dental malocclusion, Hearing impairment, Feeding di...	OMIM:619149
Adams-Oliver Syndrome 2	Low-set ears, Alopecia, Small nail, Micrognathia, Single transverse palmar crease, Low anterior h...	OMIM:614219
Rothmund-Thomson Syndrome, Type 2	Small hand, Premature graying of hair, Micrognathia, Cryptorchidism, Sparse eyelashes, Absent eye...	OMIM:268400
Mosaic Variegated Aneuploidy Syndrome 7 With Inflammation And Tumor Predisposition	Pilomatrixoma, Embryonal rhabdomyosarcoma, Cervix cancer, Adenocarcinoma of the colon, Lipoma, Mu...	OMIM:620189
Palmoplantar Keratoderma-Esophageal Carcinoma Syndrome	Clubbing of toes, Gastroesophageal reflux, Palmoplantar keratoderma, Gastrointestinal hemorrhage,...	ORPHA:2198
Pancreas, Annular	High intestinal obstruction, Duodenal stenosis	OMIM:167750
Annular Pancreas	High intestinal obstruction, Duodenal stenosis	ORPHA:675
Oculocerebrocutaneous Syndrome	Anophthalmia, Microphthalmia	OMIM:164180
Hermansky-Pudlak Syndrome 2	Low-set ears, Carious teeth, Periodontitis, Enlarged platelet dense granules, Recurrent otitis me...	OMIM:608233
Microphthalmia, Syndromic 5	Cataract, Microcornea, Anophthalmia, Microphthalmia, Optic nerve hypoplasia	OMIM:610125
Cleft Lip/Palate	Hypoplasia of the maxilla, Dental malocclusion, Velopharyngeal insufficiency, Palate fistula, Peg...	ORPHA:199306
Catel-Manzke Syndrome	Oral synechia, Micrognathia, Malar flattening, Glossoptosis, Cleft palate	ORPHA:1388
Retinal Degeneration-Nanophthalmos-Glaucoma Syndrome	Microphthalmia	ORPHA:1574
Cornea Plana 2, Autosomal Recessive	Microphthalmia, Corneal opacity, Sclerocornea, Flat cornea, Corneal arcus, Decreased corneal thic...	OMIM:217300
Temtamy Preaxial Brachydactyly Syndrome	Low-set ears, Tooth malposition, Clinodactyly of the 2nd finger, Cutaneous finger syndactyly, Mic...	ORPHA:363417
Ceroid Lipofuscinosis, Neuronal, 3	Cataract, Concentric hypertrophic cardiomyopathy, Blindness, Myoclonus, Abnormality of extrapyram...	OMIM:204200
Stevens-Johnson Syndrome	Diarrhea, Acute hepatic failure, Nausea and vomiting, Abdominal pain, Visual impairment, Dysphagi...	ORPHA:36426
Pyruvate Dehydrogenase Deficiency	Spasticity, Osteolytic defects of the middle phalanx of the 4th toe, Long philtrum, Cerebral pals...	ORPHA:765
Ectodermal Dysplasia 6, Hair/Nail Type	Alopecia, Sparse hair, Thin toenail, Dystrophic toenail	OMIM:614928
Takenouchi-Kosaki Syndrome	Low-set ears, Clinodactyly, Overlapping toe, Cryptorchidism, Sensorineural hearing impairment, At...	OMIM:616737
Mucous Membrane Pemphigoid	Gingivitis, Blindness, Corneal opacity, Oral mucosal blisters	ORPHA:46486
Amelogenesis Imperfecta	Yellow-brown discoloration of the teeth, Widely spaced teeth, Enamel hypomineralization, Anterior...	ORPHA:88661
Adenocarcinoma Of The Anal Canal	Anal stenosis, Intestinal bleeding, Neoplasm of the skeletal system, Neoplasm of the liver, Neopl...	ORPHA:424016
Mogs-Cdg	Overlapping fingers, Hepatosplenomegaly, Chronic constipation, Sensorineural hearing impairment, ...	ORPHA:79330
Anencephaly 2	Anophthalmia	OMIM:619452
Cataract-Intellectual Disability-Hypogonadism Syndrome	Depressed nasal bridge, Cerebral cortical atrophy, Tooth malposition, Furrowed tongue, Micrognath...	ORPHA:1387
Nanophthalmos 4	Microphthalmia	OMIM:615972
Angioma, Hereditary Neurocutaneous	Gastrointestinal hemorrhage, Horner syndrome, Hemiparesis	OMIM:106070
Emanuel Syndrome	Low-set ears, Tooth malposition, Aortic valve stenosis, Hearing impairment, Recurrent otitis medi...	ORPHA:96170
Peutz-Jeghers Syndrome	Biliary tract neoplasm, Gastrointestinal hemorrhage, Gastrointestinal carcinoma, Vomiting, Pancre...	ORPHA:2869
Momo Syndrome	Dental malocclusion, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Thick u...	ORPHA:2563
Chediak-Higashi Syndrome	Periodontitis, Hemophagocytosis, Reduced visual acuity, Recurrent systemic pyogenic infections, A...	OMIM:214500
Osteopetrosis, Autosomal Recessive 9	Pathologic fracture, Increased bone mineral density, Osteopetrosis, Cortical sclerosis	OMIM:620366
Congenital Disorder Of Glycosylation, Type Iiy	Cerebral cortical atrophy, Agenesis of corpus callosum, Microcephaly, Brachycephaly, Thin corpus ...	OMIM:620200
Pyruvate Dehydrogenase E1-Alpha Deficiency	Long philtrum, Episodic ataxia, Myoclonus, Tremor, Lethargy, Ptosis, Dystonia, Choreoathetosis	OMIM:312170
Oculocerebrorenal Syndrome Of Lowe	Lentiglobus, Carious teeth, Periodontitis, Open bite, Micrognathia, Open mouth, Genu valgum, Cryp...	ORPHA:534
Isolated Atp Synthase Deficiency	Cataract, Spastic paraplegia, Dilated cardiomyopathy, Hypogonadism, Hypertrophic cardiomyopathy, ...	ORPHA:254913
Pseudohypoparathyroidism Type 1A	Sensorineural hearing impairment, Short metacarpal, Choreoathetosis, Cataract, Broad distal phala...	ORPHA:79443
Cerebellar-Facial-Dental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Cataract, Denta...	ORPHA:444072
Lacrimoauriculodentodigital Syndrome 2	Conical tooth, Carious teeth, Cupped ear, Hearing impairment, Lacrimal duct aplasia, Lacrimal duc...	OMIM:620192
Small Bowel Atresia	Intestinal malrotation, Vomiting, Intestinal hypoplasia, Jejunal atresia	ORPHA:1201
Glut1 Deficiency Syndrome 1	Paroxysmal lethargy, Spasticity, Myoclonus, Paroxysmal dystonia, Hemiparesis, Babinski sign, Para...	OMIM:606777
Hepatoportal Sclerosis	Hypersplenism, Jaundice, Esophageal varix, Gastrointestinal hemorrhage, Intrahepatic portal vein ...	ORPHA:64743
Thoc6-Related Developmental Delay-Microcephaly-Facial Dysmorphism Syndrome	Abnormality of the dentition, High anterior hairline, Carious teeth, Dental malocclusion, Velopha...	ORPHA:363444
Noonan Syndrome 4	Low-set ears, Cryptorchidism, Epicanthus, Curly hair, Sparse eyebrow, Downslanted palpebral fissu...	OMIM:610733
Isolated Arrhinia	Tessier cleft, Underdeveloped nasal alae, Midline defect of the nose, Aplasia/Hypoplasia of the n...	ORPHA:1134
Fibrodysplasia Ossificans Progressiva	Alopecia, Hearing impairment, Abnormality of the first metatarsal bone, Aplasia/Hypoplasia of the...	ORPHA:337
Flynn-Aird Syndrome	Cataract, Alopecia, Carious teeth, Progressive sensorineural hearing impairment, Impaired pain se...	ORPHA:2047
Autoinflammatory Disease, Systemic, With Vasculitis	Elevated gamma-glutamyltransferase level, Diarrhea, Cholestasis, Hepatosplenomegaly, Abnormal cir...	OMIM:620376
Mitochondrial Complex I Deficiency, Nuclear Type 4	Spasticity, Vomiting, Blindness, Myoclonus, Lethargy, Ptosis, Ataxia	OMIM:618225
Fragile Site, Distamycin A Type, Rare, Fra(16)(Q22.1)	Infertility, Abnormal lymph node morphology	OMIM:136580
Acrodermatitis Enteropathica, Zinc-Deficiency Type	Diarrhea, Impaired T cell function, Recurrent candida infections, Hypogonadism, Decreased testicu...	OMIM:201100
Limb-Mammary Syndrome	Toe syndactyly, Psoriasiform dermatitis, Aplasia of the ovary, Chronic irritative conjunctivitis,...	ORPHA:69085
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Downslanted palpebral fissures, Genu...	OMIM:300602
Chronic Intestinal Pseudoobstruction	Intestinal malrotation, Abnormal intestine morphology, Pyloric stenosis	ORPHA:2978
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Cataract, Alopecia, Visual impairment, Aplasia/Hypoplasia of the iris, Ptosis, Corneal opacity, M...	ORPHA:1067
Myopathy, Lactic Acidosis, And Sideroblastic Anemia 2	Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyopathy, Sideroblast...	OMIM:613561
Mandibulofacial Dysostosis With Alopecia	Low-set ears, Alopecia, Hypoplasia of the maxilla, Cupped ear, Conductive hearing impairment, Den...	OMIM:616367
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Satb2-Associated Syndrome Due To A Chromosomal Rearrangement	Low-set ears, Abnormality of the outer ear, Small hand, Broad thumb, Micrognathia, Narrow mouth, ...	ORPHA:251028
Intellectual Developmental Disorder, Autosomal Dominant 44, With Microcephaly	Micrognathia, Frontal upsweep of hair, Chronic constipation, Epicanthus, High palate, Dysphagia, ...	OMIM:617061
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Underdeveloped nasal alae, Long philtrum, Prominent nasal bri...	OMIM:277720
Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis	Hepatic fibrosis, Alopecia, Sparse eyebrow, Hepatic failure, Cholestasis, Portal hypertension, Sp...	OMIM:607626
Autosomal Recessive Cerebellar Ataxia Due To Stub1 Deficiency	Hearing impairment, Speech apraxia, Head tremor, Arachnodactyly, Iridocyclitis, Dysphagia, Alopec...	ORPHA:412057
Marburg Hemorrhagic Fever	Neutrophilia in presence of infection, Diarrhea, Lymphopenia, Excessive bleeding after a venipunc...	ORPHA:99826
Johnson Neuroectodermal Syndrome	Alopecia, Carious teeth, Conductive hearing impairment, Atresia of the external auditory canal, D...	ORPHA:2316
Tricho-Dento-Osseous Syndrome	Dental enamel pits, Finger clinodactyly, Widely spaced teeth, Periapical tooth abscess, Enamel hy...	ORPHA:3352
4H Leukodystrophy	Abnormality of the dentition, Cataract, Delayed eruption of teeth, Decreased response to growth h...	ORPHA:289494
Intellectual Developmental Disorder, Autosomal Recessive 39	Dental malocclusion, Hallux valgus, Anteverted ears, Macrotia, Synophrys	OMIM:615541
X-Linked Hypohidrotic Ectodermal Dysplasia	Short distal phalanx of finger, Everted upper lip vermilion, Delayed eruption of teeth, Sparse bo...	ORPHA:181
Anterior Segment Dysgenesis 2	Cataract, Microcornea, Peters anomaly, Posterior synechiae of the anterior chamber, Aniridia, Con...	OMIM:610256
Lynch Syndrome 5	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Neoplasm of the pancreas, Ov...	OMIM:614350
Developmental And Epileptic Encephalopathy 92	Spasticity, Myoclonus, Lethargy, Cerebral visual impairment, Ataxia, Dystonia, Feeding difficulties	OMIM:617829
Dubowitz Syndrome	Small hand, Toe syndactyly, Broad thumb, Hearing impairment, Micrognathia, Abnormal antihelix mor...	ORPHA:235
Severe Combined Immunodeficiency Due To Foxn1 Deficiency	Ridged nail, T lymphocytopenia, Nail pits, Congenital alopecia totalis	ORPHA:169095
Kabuki Syndrome 2	Low-set ears, Natal tooth, Hearing impairment, Recurrent otitis media, Micrognathia, Epicanthus, ...	OMIM:300867
Cerebellofaciodental Syndrome	Low-set ears, Macrodontia of permanent maxillary central incisor, Sparse eyebrow, Cataract, Denta...	OMIM:616202
Non-Distal Duplication 10Q	Microcephaly, Brachycephaly, Cognitive impairment, Hypertelorism, Frontal bossing	ORPHA:1695
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Short tibia, Finger syndactyly, Micrognathia, Broad fi...	ORPHA:2751
Anterior Segment Dysgenesis 8	Cataract, Ectopia lentis, Ectopia pupillae, Hypoplasia of the iris, Uveal ectropion, Corneal stro...	OMIM:617319
Avian Influenza	Pneumonia, Myelitis, Elevated circulating hepatic transaminase concentration, Increased circulati...	ORPHA:454836
X-Linked Intellectual Disability Due To Gria3 Mutations	Eversion of lateral third of lower eyelids, Macrodontia of permanent maxillary central incisor, N...	ORPHA:364028
Cortical Dysplasia, Complex, With Other Brain Malformations 15	Hypoplasia of the maxilla, Widely-spaced incisors, Bulbous nose, Hypoplasia of the corpus callosu...	OMIM:618737
Squamous Cell Carcinoma, Head And Neck	Squamous cell carcinoma	OMIM:275355
Zimmermann-Laband Syndrome 1	Low-set ears, Small nail, Hearing impairment, Hepatomegaly, High palate, Gingival fibromatosis, P...	OMIM:135500
Kikuchi-Fujimoto Disease	Abnormal lymph node morphology, Oral ulcer, Pustule, Neutropenia, Ataxia, Hepatomegaly, Meningiti...	ORPHA:50918
Oculoskeletodental Syndrome	Protein-losing enteropathy, Hearing impairment, Elbow flexion contracture, Splenomegaly, Cryptorc...	OMIM:618440
Dentin Dysplasia, Type I	Periapical bone loss, Oligodontia, Taurodontia, Microdontia, Enamel hypoplasia, Pulp obliteration...	OMIM:125400
Leprosy	Sparse body hair, Abnormality of the spleen, Absent eyebrow, Corneal ulceration, Alopecia, Abnorm...	ORPHA:548
Epidermolysis Bullosa Simplex 6, Generalized Intermediate, With Or Without Cardiomyopathy	Alopecia, Dystrophic toenail, Sparse body hair, Onychogryposis of toenails, Alopecia of scalp, Di...	OMIM:617294
Alopecia-Intellectual Disability-Hypergonadotropic Hypogonadism Syndrome	Alopecia totalis, Hypergonadotropic hypogonadism	ORPHA:1014
Gapo Syndrome	Low-set ears, Keratoconus, Early balding, Hearing impairment, Micrognathia, Sparse eyelashes, Dys...	ORPHA:2067
Familial Cold Urticaria	Nausea and vomiting, Sensorineural hearing impairment, Abdominal pain, Hyperhidrosis, Arthritis, ...	ORPHA:47045
Toxic Epidermal Necrolysis	Acute hepatic failure, Nausea and vomiting, Neutropenia, Abdominal pain, Dysphagia, Intestinal pe...	ORPHA:537
Ctcf-Related Neurodevelopmental Disorder	Pulmonary hemorrhage, Narrow mouth, Joint contracture of the 5th finger, Cryptorchidism, Mitral r...	ORPHA:363611
Carney-Stratakis Syndrome	Gastrointestinal hemorrhage, Intestinal obstruction, Gastrointestinal stroma tumor, Dysphagia, Pa...	ORPHA:97286
Mosaic Trisomy 9	Tessier cleft, Intestinal malrotation, Bulbous nose, Micrognathia, Microcephaly, Cleft palate, Hi...	ORPHA:99776
Char Syndrome	Toe syndactyly, Hearing impairment, Supernumerary nipple, Downslanted palpebral fissures, Agenesi...	ORPHA:46627
Microphthalmia, Syndromic 13	Microcornea, Iris coloboma, Microphthalmia	OMIM:300915
Lassa Fever	Menometrorrhagia, Sepsis, Abnormal bleeding, Hearing impairment, Diarrhea, Shock, Nausea and vomi...	ORPHA:99824
Mitochondrial Complex I Deficiency, Nuclear Type 3	Abnormality of extrapyramidal motor function, Lethargy, Abnormal pyramidal sign, Episodic vomitin...	OMIM:618224
Phelan-Mcdermid Syndrome	Toenail dysplasia, Hearing impairment, Micrognathia, Epicanthus, Large hands, High palate, Patent...	OMIM:606232
Lung Cancer	Non-small cell lung carcinoma, Lung adenocarcinoma, Alveolar cell carcinoma	OMIM:211980
New-Onset Refractory Status Epilepticus	Confusion, Focal T2 hyperintense basal ganglia lesion, Cerebellar edema, Cognitive impairment, Ab...	ORPHA:363558
Autoimmune Hepatitis	Inflammation of the large intestine, Increased circulating antibody level, Cirrhosis, Glomerulone...	ORPHA:2137
Neuroendocrine Neoplasm Of Appendix	Adenocarcinoma of the colon, Mechanical ileus, Ileal adenocarcinoma, Midgut malrotation, Appendic...	ORPHA:100079
Mitochondrial Complex I Deficiency, Nuclear Type 5	Vomiting, Babinski sign, Lethargy, Ptosis, Episodic vomiting, Ataxia, Hepatomegaly, Dystonia, Dys...	OMIM:618226
Leukomelanoderma-Infantilism-Intellectual Disability-Hypodontia-Hypotrichosis Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Abnormal eyebrow morphology, Decreased ferti...	ORPHA:1816
Mohr-Tranebjaerg Syndrome	Spasticity, Progressive sensorineural hearing impairment, Abnormal posturing, Constriction of per...	OMIM:304700
Carpenter Syndrome 1	Low-set ears, Joint contracture of the hand, Toe syndactyly, Micrognathia, Genu valgum, Cryptorch...	OMIM:201000
Adenocarcinoma Of The Esophagus	Barrett esophagus, Gastroesophageal reflux, Nausea and vomiting, Clinodactyly of the 5th toe, Fee...	ORPHA:99976
2Q24 Microdeletion Syndrome	Cataract, Abnormality iris morphology, Microphthalmia	ORPHA:1617
Autoimmune Hypoparathyroidism	Cataract, Depression, Chronic mucocutaneous candidiasis, Laryngeal dystonia, Autoimmune hypoparat...	ORPHA:36913
Endosteal Hyperostosis, Autosomal Dominant	Metatarsal diaphyseal endosteal sclerosis, Hyperostosis, Thickened cortex of long bones, Clavicul...	OMIM:144750
Glanzmann Thrombasthenia 1	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Decreased platelet glycoprotein IIb-II...	OMIM:273800
L-Ferritin Deficiency	Alopecia	OMIM:615604
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Spasticity, Intestinal bleeding, Premature graying of hair, Genu valgum, Bowing of the long bones...	OMIM:612199
Tetrasomy 12P	Sparse eyebrow, Downturned corners of mouth, Delayed eruption of teeth, Long philtrum, Thick uppe...	ORPHA:884
Glanzmann Thrombasthenia	Gingival bleeding, Menometrorrhagia, Gastrointestinal hemorrhage, Prolonged bleeding following ci...	ORPHA:849
Orofaciodigital Syndrome Type 1	Hearing impairment, Finger syndactyly, Open bite, Micrognathia, Epicanthus, Brittle hair, Ataxia,...	ORPHA:2750
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Low-set ears, Incoordination, Pancytopenia, Epicanthus, Talipes equinovarus, Neutropenia, Hepatom...	OMIM:277380
X-Linked Intellectual Disability-Global Development Delay-Facial Dysmorphism-Sacral Caudal Remnant Syndrome	Low-set ears, Hearing impairment, Long philtrum, Downslanted palpebral fissures, Oral-pharyngeal ...	ORPHA:480907
Dubowitz Syndrome	Low-set ears, Carious teeth, Aplastic anemia, Velopharyngeal insufficiency, Megalocornea, Microgn...	OMIM:223370
Congenital Disorder Of Glycosylation, Type Ie	High, narrow palate, Small hand, Elevated circulating hepatic transaminase concentration, Downsla...	OMIM:608799
Alopecia-Intellectual Disability Syndrome 1	Alopecia universalis, Alopecia	OMIM:203650
Polycythemia Vera	Gingival bleeding, Early satiety, Acute leukemia, Hepatomegaly, Abdominal pain, Gastrointestinal ...	ORPHA:729
Global Developmental Delay-Alopecia-Macrocephaly-Facial Dysmorphism-Structural Brain Anomalies Syndrome	Spasticity, Small nail, Chronic constipation, Sparse eyelashes, Absent eyelashes, Sensorineural h...	ORPHA:544488
Microphthalmia, Isolated 4	Microphthalmia	OMIM:613094
Ectodermal Dysplasia With Facial Dysmorphism And Acral, Ocular, And Brain Anomalies	Cataract, Conical tooth, Dental malocclusion, Clinodactyly, Sandal gap, Unilateral narrow palpebr...	OMIM:618727
Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome	Impaired vibratory sensation, Memory impairment, Gait ataxia, Positive Romberg sign, Abnormal cer...	ORPHA:70595
Combined Oxidative Phosphorylation Deficiency 54	Impaired vibratory sensation, Memory impairment, Secondary microcephaly, Periventricular nodular ...	OMIM:619737
Mucolipidosis Iv	Cerebellar atrophy, Dysplastic corpus callosum, Microcephaly, Progressive neurologic deterioratio...	OMIM:252650
Crouzon Syndrome	Hypoplasia of the maxilla, Conductive hearing impairment, Atresia of the external auditory canal,...	OMIM:123500
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Chronic diarrhea, Generalized hirsutism, Glossitis, Abnor...	ORPHA:2221
Mullerian Derivatives, Persistence Of, With Lymphangiectasia And Postaxial Polydactyly	Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Hypertrichosis, ...	OMIM:235255
Ramon Syndrome	Conductive hearing impairment, Delayed eruption of teeth, Abnormal dental enamel morphology, Sens...	ORPHA:3019
Lymphedema-Distichiasis Syndrome	Yellow nails, Cleft upper lip, Photophobia, Micrognathia, Recurrent corneal erosions, Distichiasi...	OMIM:153400
Hennekam Syndrome	Low-set ears, Finger syndactyly, Lymphopenia, Narrow mouth, Epicanthus, Pulmonary lymphangiectasi...	ORPHA:2136
Celiac Disease, Susceptibility To, 1	Diarrhea, Ataxia, Abdominal distention, Celiac disease, Abdominal pain, Stomatitis, Alopecia, Dep...	OMIM:212750
Muscular Hypertrophy-Hepatomegaly-Polyhydramnios Syndrome	Ocular anterior segment dysgenesis, Developmental cataract, Microphthalmia	ORPHA:324416
Poikiloderma, Hereditary Fibrosing, With Tendon Contractures, Myopathy, And Pulmonary Fibrosis	Cataract, Alopecia, Sparse eyebrow, Erysipelas, Sparse eyelashes, Nail dysplasia, Hypohidrosis, H...	OMIM:615704
3-Hydroxyisobutyryl-Coa Hydrolase Deficiency	Myoclonus, Reduced circulating 3-hydroxyisobutyryl-CoA hydrolase activity, Dysmetria, Epicanthus,...	OMIM:250620
Cofs Syndrome	Wide nasal bridge, Cataract, Microphthalmia	ORPHA:1466
Severe Microbrachycephaly-Intellectual Disability-Athetoid Cerebral Palsy Syndrome	Tessier cleft, Lip pit, Abnormal palate morphology, Microcephaly, Hypodontia, Mandibular prognathia	ORPHA:1236
Global Developmental Delay-Osteopenia-Ectodermal Defect Syndrome	Dental malocclusion, Clinodactyly of the 2nd finger, Long philtrum, Tricuspid regurgitation, Thic...	ORPHA:73223
Mucopolysaccharidosis, Type Iiid	Low-set ears, Diarrhea, Hearing impairment, Recurrent otitis media, Mitral regurgitation, Hepatom...	OMIM:252940
Stxbp1-Related Encephalopathy	Dysplastic corpus callosum, Cerebral white matter atrophy, Ataxia	ORPHA:599373
Usher Syndrome	Carious teeth, Decreased fertility, Sensorineural hearing impairment, Ataxia, Abnormality of dent...	ORPHA:886
Beaulieu-Boycott-Innes Syndrome	High anterior hairline, Carious teeth, Dental malocclusion, Velopharyngeal insufficiency, Short p...	OMIM:613680
Macs Syndrome	Micrognathia, High myopia, Irregular dentition, Cryptorchidism, Epicanthus, High palate, Sparse h...	OMIM:613075
Gm1 Gangliosidosis Type 1	Low-set ears, Flattened femoral head, Spasticity, Hearing impairment, Long philtrum, Aspiration p...	ORPHA:79255
Acrootoocular Syndrome	Low-set ears, Atresia of the external auditory canal, Abnormal earlobe morphology, Micrognathia, ...	ORPHA:2980
Leukoencephalopathy With Dystonia And Motor Neuropathy	Leukoencephalopathy, Impaired vibratory sensation, Focal T2 hyperintense thalamic lesion	OMIM:613724
Band Heterotopia	Plagiocephaly, Lateral ventricle dilatation, Polymicrogyria, Agenesis of corpus callosum, Gray ma...	OMIM:600348
Potocki-Lupski Syndrome	Mandibular prognathia, Gastroesophageal reflux, Dental malocclusion, Hearing impairment, Dental c...	OMIM:610883
Methylmalonic Acidemia With Homocystinuria	Lethargy, Amblyopia, Skin rash, Feeding difficulties	ORPHA:26
Intellectual Developmental Disorder, Autosomal Recessive 54	Exaggerated startle response	OMIM:617028
Autosomal Recessive Hypohidrotic Ectodermal Dysplasia	Alopecia, Fine hair, Abnormal fingernail morphology, Abnormal hair morphology, Abnormal dental mo...	ORPHA:248
Dystonia 31	Arm dystonia, Depression, Abnormal posturing, Generalized dystonia, Leg dystonia, Craniofacial dy...	OMIM:619565
Idiopathic Uveal Effusion Syndrome	Abnormal anterior eye segment morphology, Microphthalmia	ORPHA:209956
Osteopetrosis, Autosomal Recessive 6	Osteopetrosis	OMIM:611497
Teebi Hypertelorism Syndrome 2	Hearing impairment, Delayed eruption of teeth, Thick eyebrow, Microdontia, Thin upper lip vermili...	OMIM:619736
Pseudohypoparathyroidism Type 1C	Short metacarpal, Cataract, Broad distal phalanx of the thumb, Depression, Short 3rd metacarpal, ...	ORPHA:79444
Lynch Syndrome 4	Hereditary nonpolyposis colorectal carcinoma, Endometrial carcinoma, Ovarian neoplasm	OMIM:614337
Branchiogenic-Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	OMIM:609166
Secondary Short Bowel Syndrome	Diarrhea, Vomiting, Volvulus, Villous atrophy, Abnormal small intestine morphology, Aganglionic m...	ORPHA:95427
Rhizomelic Chondrodysplasia Punctata	Abnormality of the dentition, Alopecia, Cataract, Rhizomelia, Sparse body hair, Epicanthus, Limb ...	ORPHA:177
Microcephaly And Chorioretinopathy, Autosomal Recessive, 2	Cataract, Microcornea, Microphthalmia	OMIM:616171
Keratoderma Hereditarium Mutilans	Alopecia, Hearing impairment, Honeycomb palmoplantar hyperkeratosis, Autoamputation of digits, Se...	ORPHA:494
Cataract-Microcornea Syndrome	Cataract, Microcornea, Corneal opacity, Iris coloboma, Corneal dystrophy	ORPHA:1377
Infantile Neuronal Ceroid Lipofuscinosis	Progressive visual field defects, Spasticity, Chorea, Blindness, Myoclonus, Visual loss, Dysmetri...	ORPHA:79263
Leukodystrophy, Hypomyelinating, 14	Spasticity, Hearing impairment, Blindness, Dystonia, Feeding difficulties	OMIM:617899
Early Myoclonic Encephalopathy	Myoclonus, Lethargy, Recurrent respiratory infections, Dysphagia, Feeding difficulties, Poor suck	ORPHA:1935
Homocystinuria Without Methylmalonic Aciduria	Vomiting, Lethargy, Visual impairment, Ataxia	ORPHA:622
Frontonasal Dysplasia-Severe Microphthalmia-Severe Facial Clefting Syndrome	Wide nasal bridge, Tessier cleft, Hypoplasia of the frontal bone, Hypoplasia of the maxilla, Unde...	ORPHA:306542
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic paraplegia, Spasticity, Spastic paraparesis, Spastic gait, Impaired vibratory sensation, ...	OMIM:238970
Down Syndrome	Keratoconus, Narrow mouth, Open mouth, Protruding tongue, Bilateral single transverse palmar crea...	ORPHA:870
Spastic Paraplegia 45, Autosomal Recessive	Dysplastic corpus callosum, Hypoplasia of the corpus callosum	OMIM:613162
Ceroid Lipofuscinosis, Neuronal, 1	Spasticity, Depression, Blindness, Myoclonus, Progressive visual loss, Ataxia, Vacuolated lymphoc...	OMIM:256730
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Cataract, Alopecia, Protein-losing enteropathy, Xerostomia, Hematochezia, Gastrointestinal carcin...	OMIM:175500
Marshall Syndrome	Low-set ears, Radial bowing, Recurrent otitis media, Thick upper lip vermilion, Micrognathia, Sen...	OMIM:154780
Refsum Disease	Cataract, Abnormality of vision, Cardiomyopathy, Heart block, Splenomegaly, Hemiplegia/hemiparesi...	ORPHA:773
Dyskeratosis Congenita, Autosomal Dominant 1	Carious teeth, Aplastic anemia, Premature graying of hair, Lymphopenia, Cirrhosis, Ataxia, Sparse...	OMIM:127550
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Long philtrum, Micrognathia, Malar flattening, Glossoptosis, Cleft palate	ORPHA:166100
Intellectual Developmental Disorder, Autosomal Dominant 63, With Macrocephaly	Pain insensitivity, Highly arched eyebrow, Dental crowding, Delayed eruption of teeth, Long philt...	OMIM:618825
Van Maldergem Syndrome 2	Atresia of the external auditory canal, Hearing impairment, Clinodactyly, Cutaneous finger syndac...	OMIM:615546
Chromosome 3Q13.31 Deletion Syndrome	Plagiocephaly, Agenesis of corpus callosum, Brachycephaly, Attention deficit hyperactivity disord...	OMIM:615433
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 2	Low-set ears, High anterior hairline, Single transverse palmar crease, Brachydactyly, Adducted th...	OMIM:620062
Chédiak-Higashi Syndrome	Gingival bleeding, Periodontitis, Hemophagocytosis, Atrophy of alveolar ridges, Hepatosplenomegal...	ORPHA:167
Intellectual Developmental Disorder, X-Linked 104	Spasticity, Retrognathia, Frontal upsweep of hair, Tremor, Ataxia, High palate, Abnormal pinna mo...	OMIM:300983
Nasolacrimal Duct Cyst	Red eye, Chronic irritative conjunctivitis, Dacryocystocele, Corneal astigmatism, Amblyopia, Narr...	ORPHA:141083
Microphthalmia, Isolated 5	Cataract, Microphthalmia	OMIM:611040
Cerebellar Ataxia, Areflexia, Pes Cavus, Optic Atrophy, And Sensorineural Hearing Loss	Arm dystonia, Progressive sensorineural hearing impairment, Hearing impairment, Episodic ataxia, ...	OMIM:601338
Incontinentia Pigmenti	Spasticity, Supernumerary nipple, Sparse hair, Onychogryposis, Cataract, Alopecia, Breast aplasia...	OMIM:308300
Immunodeficiency 10	Recurrent otitis media, Increased circulating IgA level, Hepatomegaly, Autoimmune thrombocytopeni...	OMIM:612783
Radio-Tartaglia Syndrome	Low-set ears, Small nail, Hearing impairment, Micrognathia, Epicanthus, Narrow palpebral fissure,...	OMIM:619312
Melanocytic Nevus Syndrome, Congenital	Broad nasal tip, Long philtrum, Anteverted nares, Open mouth, Prominence of the premaxilla, Narro...	OMIM:137550
Hallermann-Streiff Syndrome	Low-set ears, Natal tooth, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eyelashes, Telangie...	OMIM:234100
Intellectual Disability, Buenos-Aires Type	Dental malocclusion, Fine hair, Downslanted palpebral fissures, Abnormal fingernail morphology, O...	ORPHA:3079
Deafness-Genital Anomalies-Metacarpal And Metatarsal Synostosis Syndrome	Low-set ears, Abnormality of the dentition, Alopecia, Toe syndactyly, Finger syndactyly, Supernum...	ORPHA:3224
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency	Recurrent pneumonia, Inflammatory abnormality of the skin, Recurrent upper respiratory tract infe...	ORPHA:277
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Nut Midline Carcinoma	Ewing sarcoma, Neoplasm, Oropharyngeal squamous cell carcinoma, Pancreatoblastoma, Squamous cell ...	ORPHA:443167
Den Hoed-De Boer-Voisin Syndrome	Small hand, Carious teeth, Spasticity, Lactose intolerance, Hypermetropia, Ataxia, Recurrent lowe...	OMIM:619229
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Finger syndactyly, Esophagitis...	ORPHA:2908
Microcephaly, Postnatal Progressive, With Seizures And Brain Atrophy	Secondary microcephaly, Decreased thalamic volume, Diffuse cerebral atrophy	OMIM:613668
Alopecia, Familial Focal	Patchy alopecia	OMIM:104110
Intellectual Developmental Disorder, X-Linked, Syndromic, Gustavson Type	Spasticity, Blindness, Hearing impairment, Severely reduced visual acuity	OMIM:309555
Alopecia-Intellectual Disability Syndrome 2	Alopecia universalis	OMIM:610422
Alopecia-Intellectual Disability Syndrome 3	Alopecia universalis	OMIM:613930
Cyclic Neutropenia	Periodontitis, Atrophy of alveolar ridges, Lymphopenia, Oral ulcer, Tooth abscess, Abdominal pain...	ORPHA:2686
Relapsing Polychondritis	Cataract, Alopecia, Uveitis, Keratitis, Hepatitis, Anteriorly placed anus, Vertigo, Recurrent aph...	ORPHA:728
Alopecia, Androgenetic, 1	Alopecia	OMIM:109200
Cornelia De Lange Syndrome 1	Low-set ears, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low posterior hairl...	OMIM:122470
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
Methylmalonic Aciduria And Homocystinuria, Cblj Type	Gastroesophageal reflux, Abnormal posturing, Decreased methionine synthase activity, Feeding diff...	OMIM:614857
Restrictive Dermopathy	Low-set ears, Sparse eyebrow, Short nail, Natal tooth, Short palpebral fissure, Microcolon, Downs...	ORPHA:1662
Developmental And Epileptic Encephalopathy 40	Spasticity, Myoclonus, Lethargy, Spastic tetraparesis, Choreoathetosis, Feeding difficulties	OMIM:617065
Bernard-Soulier Syndrome	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Giant platelets, Abnormal bleeding, Pr...	OMIM:231200
Pancreatic Colipase Deficiency	Steatorrhea, Exocrine pancreatic insufficiency, Fat malabsorption, Chronic diarrhea	ORPHA:309108
Congenital Disorder Of Glycosylation, Type Ig	Short tibia, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Talipes equinovarus, P...	OMIM:607143
Pallister-Hall-Like Syndrome	Depressed nasal bridge, Microglossia, Micrognathia, Death in infancy, Median cleft upper lip, Mic...	OMIM:241800
Intellectual Disability And Myopathy Syndrome	Atopic dermatitis, Dental malocclusion, Left ventricular systolic dysfunction, Limited elbow exte...	OMIM:619719
Myasthenic Syndrome, Congenital, 4C, Associated With Acetylcholine Receptor Deficiency	Dental malocclusion, Ptosis, Dysphagia, High palate, Mandibular prognathia, Feeding difficulties	OMIM:608931
Emanuel Syndrome	Low-set ears, Aortic valve stenosis, Hearing impairment, Recurrent otitis media, Feeding difficul...	OMIM:609029
Schöpf-Schulz-Passarge Syndrome	Alopecia, Palmoplantar keratoderma, Premature loss of primary teeth, Facial telangiectasia, Hypod...	ORPHA:50944
Sotos Syndrome	Low-set ears, Long metacarpals, Small nail, Genu valgum, Cryptorchidism, Long phalanx of finger, ...	OMIM:117550
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome Due To A Point Mutation	Abnormality of primary teeth, Telecanthus, Tented upper lip vermilion, Upslanted palpebral fissur...	ORPHA:438216
Micrognathia-Recurrent Infections-Behavioral Abnormalities-Mild Intellectual Disability Syndrome	Micrognathia, Chronic constipation, Epicanthus, Feeding difficulties in infancy, Slanting of the ...	ORPHA:476126
Neurodevelopmental Disorder With Brain Anomalies And With Or Without Vertebral Or Cardiac Anomalies	Small nail, Downturned corners of mouth, Tooth agenesis, Macrodontia, Blindness, Protruding ear, ...	OMIM:618731
Vascular Hyalinosis	Protein-losing enteropathy, Diarrhea, Hematochezia	OMIM:277175
Macrothrombocytopenia-Lymphedema-Developmental Delay-Facial Dysmorphism-Camptodactyly Syndrome	Hearing impairment, Clinodactyly, Overlapping toe, Reduced visual acuity, Patent ductus arteriosu...	ORPHA:487796
Immunodeficiency, Common Variable, 12, With Autoimmunity	Atrophic gastritis, Alopecia, Recurrent pneumonia, Decreased circulating antibody level, Autoimmu...	OMIM:616576
Cataract, Congenital, With Mental Impairment And Dentate Gyrus Atrophy	Chorea, Blindness, Dysphagia, Developmental cataract	OMIM:607674
Odontoonychodermal Dysplasia	Dry hair, Sparse body hair, Thin nail, Sparse eyebrow, Ridged nail, Abnormality of primary teeth,...	OMIM:257980
Autosomal Dominant Progressive External Ophthalmoplegia	Hearing impairment, Resting tremor, Arrhythmia, Ataxia, Bradykinesia, Visual impairment, Dysphagi...	ORPHA:254892
Mitochondrial Complex Iv Deficiency, Nuclear Type 20	Elevated circulating hepatic transaminase concentration, Long eyelashes, Lethargy, Pulmonary arte...	OMIM:619064
Lichen Planopilaris	Alopecia, Hepatitis, Neoplasm of the oral cavity, Abnormal fingernail morphology, Pterygium, Abno...	ORPHA:525
Epidermolysis Bullosa Simplex With Mottled Pigmentation	Abnormality of the dentition, Alopecia, Nail dystrophy, Oral mucosal blisters, Nail dysplasia, Pa...	ORPHA:79397
Osteopetrosis, Autosomal Recessive 1	Carious teeth, Facial paralysis, Hearing impairment, Flared metaphysis, Increased circulating lac...	OMIM:259700
Otofaciocervical Syndrome 2, With T-Cell Deficiency	Low-set ears, Carious teeth, Cupped ear, Dental malocclusion, Microretrognathia, Clinodactyly, Pe...	OMIM:615560
Mantle Cell Lymphoma	Anorexia, Abnormality of the gastrointestinal tract, Splenomegaly, Lymphadenopathy	ORPHA:52416
Orofaciodigital Syndrome Xix	Wide nasal bridge, Bifid nasal tip, Narrow palate, Carious teeth, Downturned corners of mouth, Un...	OMIM:620107
Hereditary Sensory And Autonomic Neuropathy Due To Tecpr2 Mutation	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Hypoplasia of the corpus callosum, Dysmetria, ...	ORPHA:320385
Seckel Syndrome 2	Microglossia, Basal ganglia calcification, Prominent nose, Micrognathia, Microdontia, Cerebellar ...	OMIM:606744
Growth Delay Due To Insulin-Like Growth Factor Type 1 Deficiency	Prelingual sensorineural hearing impairment, Delayed eruption of teeth, Clinodactyly, Hypogonadis...	ORPHA:73272
Alpha-N-Acetylgalactosaminidase Deficiency	Cataract, Recurrent pneumonia, Spasticity, Gastroesophageal reflux, Hearing impairment, Vertigo, ...	ORPHA:3137
Branchiootic Syndrome 3	Branchial cyst	OMIM:608389
Retinal Degeneration With Nanophthalmos, Cystic Macular Degeneration, And Angle Closure Glaucoma	Shallow anterior chamber, Microphthalmia	OMIM:267760
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, E...	ORPHA:394
Hypophosphatemic Bone Disease	Rickets, Osteomalacia	OMIM:146350
Brachydactyly-Short Stature-Retinitis Pigmentosa Syndrome	Low-set ears, Alopecia, Small nail, Downslanted palpebral fissures, Feeding difficulties, Microgn...	ORPHA:166035
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Portal hypertension, Splenomegaly, Neonatal cholestatic liver diseas...	ORPHA:1414
Autosomal Recessive Spastic Paraplegia Type 77	Macrodontia of permanent maxillary central incisor, Neuromuscular dysphagia, Retrognathia, Progre...	ORPHA:466722
Lissencephaly Due To Tuba1A Mutation	Cerebellar vermis hypoplasia, Dysgenesis of the basal ganglia, Polymicrogyria, Dilated fourth ven...	ORPHA:171680
Deafness-Intellectual Disability Syndrome, Martin-Probst Type	Low-set ears, Abnormality of the dentition, Cataract, Dental malocclusion, Thick lower lip vermil...	ORPHA:85321
Alpha-Thalassemia-X-Linked Intellectual Disability Syndrome	Nausea and vomiting, Cryptorchidism, Sensorineural hearing impairment, Epicanthus, Talipes equino...	ORPHA:847
Dengue Fever	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Hypotension, Diarrhea, Bruising suscep...	ORPHA:99828
Hypophosphatasia, Adult	Rickets, Osteomalacia, Pathologic fracture, Increased susceptibility to fractures, Recurrent frac...	OMIM:146300
Neurodevelopmental Disorder With Microcephaly, Seizures, And Cortical Atrophy	Low-set ears, Natal tooth, Bilateral conductive hearing impairment, Myopic astigmatism, Volvulus,...	OMIM:617802
Trisomy 13	Cataract, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Iris coloboma	ORPHA:3378
Bardet-Biedl Syndrome	Fifth finger distal phalanx clinodactyly, Inflammation of the large intestine, Spasticity, Hearin...	ORPHA:110
Bartsocas-Papas Syndrome	Popliteal pterygium, Ankyloblepharon, Toe syndactyly, Finger syndactyly, Absent thumb, Alopecia t...	ORPHA:1234
Short Stature, Facial Dysmorphism, And Skeletal Anomalies With Or Without Cardiac Anomalies 1	Low-set ears, Toenail dysplasia, Conductive hearing impairment, Dental crowding, Long philtrum, D...	OMIM:617877
Chanarin-Dorfman Syndrome	Alopecia, Hepatic steatosis, Subcapsular cataract, Sensorineural hearing impairment, Hepatomegaly...	OMIM:275630
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2A2	Impaired vibratory sensation, Somatic sensory dysfunction, Hand tremor, Hand muscle weakness, Imp...	ORPHA:99947
Gastrointestinal Defects And Immunodeficiency Syndrome 1	Ileal atresia, Colonic atresia, Lymphopenia, Psoriasiform dermatitis, Intestinal obstruction, Rec...	OMIM:243150
Congenital Ichthyosiform Erythroderma	Alopecia, Keratitis, Hearing impairment, Palmoplantar keratoderma, Hypohidrosis, Erythroderma, Ec...	ORPHA:79394
Vitamin B12-Unresponsive Methylmalonic Acidemia Type Mut0	Sepsis, Chorea, Nausea and vomiting, Hemiplegia/hemiparesis, Hepatomegaly, Lethargy, Pancreatitis...	ORPHA:289916
Adnp Syndrome	Low-set ears, Broad thumb, Oral-pharyngeal dysphagia, Cryptorchidism, Chronic constipation, Hyper...	ORPHA:404448
Abnormal Hair, Joint Laxity, And Developmental Delay	Short fifth metatarsal, Alopecia, Increased carrying angle, Sparse lateral eyebrow, Small nail, T...	OMIM:261990
Usher Syndrome Type 3	Iris hypopigmentation, Cataract, Depression, Vestibular hypofunction, Scotoma, Visual loss, Astig...	ORPHA:231183
Bloom Syndrome	Neoplasm of the colon, Micrognathia, Stomach cancer, Abscess, Severe toxoplasmosis, Sparse eyelas...	ORPHA:125
Histiocytosis-Lymphadenopathy Plus Syndrome	Hearing impairment, Clinodactyly, Hepatosplenomegaly, Joint contracture of the 5th finger, Sensor...	OMIM:602782
Intellectual Developmental Disorder With Speech Delay And Dysmorphic Facies	Low-set ears, Wide mouth, Exaggerated cupid's bow, Epicanthus, Posteriorly rotated ears, Thick ve...	OMIM:618506
Carabelli Anomaly Of Maxillary Molar Teeth	Abnormality of the dentition, Shovel-shaped maxillary central incisors, Abnormality of molar	OMIM:114700
Non-Functioning Pituitary Adenoma	Hypopituitarism, Nausea and vomiting, Anemia of inadequate production, Decreased fertility in fem...	ORPHA:91349
Oculoskeletodental Syndrome	Dysplastic corpus callosum, Abnormal thalamus morphology, Focal white matter lesions	ORPHA:557003
Retinal Vasculopathy With Cerebral Leukoencephalopathy And Systemic Manifestations	Elevated gamma-glutamyltransferase level, Elevated circulating alkaline phosphatase concentration...	ORPHA:247691
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3	Bifid uvula, Joint contracture of the hand, Dental malocclusion, Delayed eruption of teeth, Broad...	OMIM:612350
Early-Onset Epileptic Encephalopathy-Cortical Blindness-Intellectual Disability-Facial Dysmorphism Syndrome	Anophthalmia	ORPHA:411986
Pontocerebellar Hypoplasia, Type 6	Spasticity, Gastroesophageal reflux, Poor suck, Appendicular spasticity, Lethargy, Lower limb spa...	OMIM:611523
Symptomatic Form Of Hfe-Related Hemochromatosis	Arrhythmia, Apathy, Cirrhosis, Elevated jugular venous pressure, Hepatomegaly, Abdominal pain, Hy...	ORPHA:465508
Combined Immunodeficiency Due To Zap70 Deficiency	Recurrent viral infections, Lymphadenitis, Abnormal lymph node morphology, Decreased proportion o...	ORPHA:911
Cerebral Sclerosis, Diffuse, Scholz Type	Spastic paraplegia, Blindness, Hearing impairment	OMIM:302700
Hemophagocytic Lymphohistiocytosis, Familial, 5, With Or Without Microvillus Inclusion Disease	Recurrent upper respiratory tract infections, Hemophagocytosis, Hepatosplenomegaly, Splenomegaly,...	OMIM:613101
Immunodeficiency 7	Severe varicella zoster infection, Diarrhea, Recurrent otitis media, Hypereosinophilia, Splenomeg...	OMIM:615387
Cerebrooculofacioskeletal Syndrome 3	Microphthalmia	OMIM:616570
Ghosal Hematodiaphyseal Dysplasia	Myelofibrosis, Increased bone mineral density, Hyperostosis cranialis interna	OMIM:231095
Shwachman-Diamond Syndrome	Abnormality of the outer ear, Carious teeth, Aplastic anemia, Hearing impairment, Recurrent viral...	ORPHA:811
Mulibrey Nanism	Microglossia, Dental malocclusion, Dental crowding, Congestive heart failure, Astigmatism, Single...	OMIM:253250
Tonne-Kalscheuer Syndrome	Spasticity, Broad thumb, Velopharyngeal insufficiency, Small nail, Fine hair, Downturned corners ...	OMIM:300978
Zellweger-Like Syndrome Without Peroxisomal Anomalies	Alopecia, Upslanted palpebral fissure, Bilateral single transverse palmar creases, Epicanthus, Br...	ORPHA:50812
Immunodeficiency With Hyper-Igm, Type 1	Diarrhea, Enteroviral encephalitis, Oral ulcer, Increased circulating IgA level, Cirrhosis, Neutr...	OMIM:308230
Autosomal Dominant Spastic Ataxia Type 1	Spastic paraplegia, Impaired vibration sensation in the lower limbs, Limb ataxia, Tremor, Babinsk...	ORPHA:251282
Retinopathy Of Prematurity	Cataract, Retinal arteriolar tortuosity, Blindness, Reduced visual acuity, Abnormal retinal vascu...	ORPHA:90050
Immunodeficiency 52	Persistent CMV viremia, Recurrent pneumonia, Increased proportion of gamma-delta T cells, Lymphop...	OMIM:617514
Amelogenesis Imperfecta, Type Ia	Generalized microdontia, Dental enamel pits, Taurodontia, Amelogenesis imperfecta, Enamel hypoplasia	OMIM:104530
Hereditary Mucoepithelial Dysplasia	Cataract, Alopecia, Fine hair, Recurrent respiratory infections, Furrowed tongue, Gingival overgr...	ORPHA:1839
Alopecia-Contractures-Dwarfism-Intellectual Disability Syndrome	Alopecia, Abnormal helix morphology, Synostosis of carpal bones, Finger syndactyly, Low-set, post...	ORPHA:1005
Johanson-Blizzard Syndrome	Abnormality of the dentition, Alopecia, Delayed eruption of teeth, Anteriorly placed anus, Exocri...	ORPHA:2315
Orofacial Cleft 15	Low-set ears, Sparse eyebrow, High anterior hairline, Palate fistula, Upslanted palpebral fissure...	OMIM:616788
Albers-Schönberg Osteopetrosis	Abnormality of the dentition, Short distal phalanx of finger, Mandibular osteomyelitis, Carious t...	ORPHA:53
Crandall Syndrome	Alopecia, Fine hair, Sparse body hair, Hypogonadism, Brittle hair, Sensorineural hearing impairme...	ORPHA:202
Isolated Polycystic Liver Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Feeding difficulties in infancy, Abdominal ...	ORPHA:2924
Mycophenolate Mofetil Embryopathy	Tessier cleft, Micrognathia, Agenesis of corpus callosum, Orofacial cleft, Tracheoesophageal fist...	ORPHA:268249
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Spasticity, Micrognathia, Cryptorchidism, Talipes equinovarus, Hypermetropia, Large hands, High p...	OMIM:300534
Nocardiosis	Lymphadenitis, Scleritis, Anorexia, Meningitis, Dacryocystitis, Endocarditis, Unusual CNS infecti...	ORPHA:31204
Vitamin D-Dependent Rickets, Type 2B, With Normal Vitamin D Receptor	Delayed epiphyseal ossification, Rickets, Rickets of the lower limbs, Sparse bone trabeculae, Gen...	OMIM:600785
Autoimmune Hemolytic Anemia-Autoimmune Thrombocytopenia-Primary Immunodeficiency Syndrome	Hepatitis, Recurrent otitis media, Lymphopenia, Splenomegaly, Autoimmune hemolytic anemia, Hemipa...	ORPHA:444463
Hallermann-Streiff Syndrome	Small hand, Natal tooth, Sparse body hair, Micrognathia, Narrow mouth, Cryptorchidism, Sparse eye...	ORPHA:2108
Odontotrichoungual-Digital-Palmar Syndrome	Short distal phalanx of finger, Dental malocclusion, Natal tooth, Short 1st metacarpal, Short fir...	OMIM:601957
Pheochromocytoma/Paraganglioma Syndrome 4	Paraganglioma of head and neck, Chemodectoma, Gastrointestinal stroma tumor, Adrenal pheochromocy...	OMIM:115310
Polyglucosan Body Myopathy 1 With Or Without Immunodeficiency	Inflammation of the large intestine, Lymphadenitis, Cholestasis, Erythroderma, Hepatomegaly, Abdo...	OMIM:615895
Malignant Atrophic Papulosis	Constrictive pericarditis, Gastrointestinal infarctions, Gastrointestinal hemorrhage, Abnormal co...	OMIM:602248
Unilateral Ocular Duplication	Median cleft upper lip, Midline facial cleft, Cleft palate, Macrocephaly	ORPHA:3374
Omenn Syndrome	Pneumonia, Alopecia, Recurrent viral infections, Diarrhea, Splenomegaly, Recurrent bacterial infe...	OMIM:603554
Thiamine Metabolism Dysfunction Syndrome 4 (Bilateral Striatal Degeneration And Progressive Polyneuropathy Type)	Talipes equinovarus, Lethargy, Paralysis, Distal sensory impairment	OMIM:613710
Osteopetrosis, Autosomal Recessive 2	Carious teeth, Mandibular osteomyelitis, Facial paralysis, Extramedullary hematopoiesis, Osteomye...	OMIM:259710
Autosomal Recessive Robinow Syndrome	Toe syndactyly, Synostosis of carpal bones, Hearing impairment, Elbow dislocation, Finger syndact...	ORPHA:1507
Leigh Syndrome	Spasticity, Sensorineural hearing impairment, Neutropenia, Ataxia, Dysphagia, Choreoathetosis, Ma...	ORPHA:506
Orofaciodigital Syndrome Xv	Wide nasal bridge, Cerebellar vermis hypoplasia, Midline notch of upper alveolar ridge, Anteverte...	OMIM:617127
Juvenile Polyposis Of Infancy	Low-set ears, Intestinal bleeding, Broad thumb, Diarrhea, Broad phalanx of the toes, Narrow mouth...	ORPHA:79076
Hemorrhagic Destruction Of The Brain, Subependymal Calcification, And Cataracts	Neonatal death, Cataract, Microphthalmia	OMIM:613730
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Low-set ears, Carious teeth, Bilateral conductive hearing impairment, Small nail, Atresia of the ...	OMIM:620186
Ulnar-Mammary Syndrome	Ectopic posterior pituitary, Short 5th toe, Arrhythmia, Anterior pituitary hypoplasia, Absent rad...	OMIM:181450
Achalasia, Familial Esophageal	Rheumatoid arthritis, Xerostomia, Achalasia, Keratoconjunctivitis sicca	OMIM:200400
Acute Disseminated Encephalomyelitis	Mental deterioration, Diffuse white matter abnormalities, Somatic sensory dysfunction, Confusion,...	ORPHA:83597
Oligodontia	Short dental root, Agenesis of mandibular premolar, Abnormality of canine, Peg-shaped maxillary l...	ORPHA:99798
Pycnodysostosis	Small hand, Carious teeth, Hepatosplenomegaly, Micrognathia, Mild conductive hearing impairment, ...	ORPHA:763
Agammaglobulinemia 4, Autosomal Recessive	Decreased circulating IgG level, Recurrent pneumonia, Protein-losing enteropathy, Recurrent otiti...	OMIM:613502
Microcornea-Posterior Megalolenticonus-Persistent Fetal Vasculature-Coloboma Syndrome	Posterior lenticonus, Microcornea, Iris coloboma, Microphthalmia	ORPHA:231736
Malignant Atrophic Papulosis	Pain insensitivity, Cataract, Diplopia, Arteritis, Gastrointestinal hemorrhage, Intestinal fistul...	ORPHA:679
Immunodeficiency 97 With Autoinflammation	Diarrhea, Hemophagocytosis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Decreased pr...	OMIM:619802
Hereditary Bullous Dystrophy, Macular Type	Pneumonia, Cataract, Alopecia, Atrichia, Short finger, Decreased testicular size, Nail dystrophy,...	ORPHA:1867
Frontometaphyseal Dysplasia 1	Broad phalanges of the hand, Hearing impairment, Partial fusion of carpals, Carpal synostosis, Ge...	OMIM:305620
Rothmund-Thomson Syndrome	Carious teeth, Aplastic anemia, Small nail, Diarrhea, Alopecia totalis, Sparse eyelashes, Aplasia...	ORPHA:2909
Müllerian Derivatives-Lymphangiectasia-Polydactyly Syndrome	Low-set ears, Protein-losing enteropathy, Hepatic failure, Abdominal distention, Hypertrichosis, ...	ORPHA:1655
Lig4 Syndrome	Acute leukemia, Telecanthus, Micrognathia, Pancytopenia, Upslanted palpebral fissure, Leukocytosi...	ORPHA:99812
Cockayne Syndrome A	Dry hair, Carious teeth, Cryptorchidism, Sensorineural hearing impairment, Delayed eruption of pr...	OMIM:216400
Ebola Hemorrhagic Fever	Gastrointestinal hemorrhage, Sepsis, Abnormal bleeding, Hepatitis, Diarrhea, Vomiting, Lymphopeni...	ORPHA:319218
Microphthalmia/Coloboma And Skeletal Dysplasia Syndrome	Cataract, Microcornea, Ectopia pupillae, Anophthalmia, Microphthalmia, Sclerocornea	OMIM:615877
Non-Syndromic Bicoronal Craniosynostosis	Brachycephaly, Proptosis, Hypertelorism	ORPHA:35099
Sjogren Syndrome	Tubulointerstitial nephritis, Rheumatoid arthritis, Xerostomia, Keratoconjunctivitis sicca	OMIM:270150
Basal Ganglia Disease, Biotin-Thiamine Responsive	Truncal titubation, Vomiting, Tetraparesis, Chorea, Cogwheel rigidity, Action tremor, Gait ataxia...	OMIM:607483
Neurodevelopmental Disorder With Structural Brain Anomalies And Dysmorphic Facies	Plagiocephaly, Proptosis, Unilambdoid synostosis, Hypoplasia of the corpus callosum, Agenesis of ...	OMIM:618577
Combined Oxidative Phosphorylation Deficiency 2	Low-set ears, Elevated circulating hepatic transaminase concentration, Neonatal death, Lethargy, ...	OMIM:610498
Lacrimoauriculodentodigital Syndrome 1	Bilateral triphalangeal thumbs, Carious teeth, Xerostomia, Hearing impairment, Lacrimal gland hyp...	OMIM:149730
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:77298
Agammaglobulinemia 1, Autosomal Recessive	Recurrent pneumonia, Recurrent enteroviral infections, Rectal abscess, Panhypogammaglobulinemia, ...	OMIM:601495
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Sparse eyebrow, Hypoplasia of the maxilla, Cupped ear, Ectopic lacrimal punctum, Te...	OMIM:167730
Dihydrolipoamide Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Decreased liver function, Hypertrophic c...	OMIM:246900
Intellectual Developmental Disorder With Microcephaly And With Or Without Ocular Malformations Or Hypogonadotropic Hypogonadism	Low-set ears, Highly arched eyebrow, Short palpebral fissure, Short distal phalanx of finger, Del...	OMIM:615866
Intellectual Developmental Disorder, Autosomal Dominant 74	Hypotelorism, Deeply set eye, Diminished ability to concentrate, Brachycephaly, Microcephaly, Hyp...	OMIM:620688
Leber Congenital Amaurosis 1	Keratoconus, Cataract, Attenuation of retinal blood vessels, Blindness, Sensorineural hearing imp...	OMIM:204000
3P25.3 Microdeletion Syndrome	Abnormal thalamus morphology, Cerebral white matter atrophy, Brachycephaly, Attention deficit hyp...	ORPHA:435638
Neutral Lipid Storage Disease With Ichthyosis	Alopecia, Elevated circulating hepatic transaminase concentration, Micronodular cirrhosis, Cardio...	ORPHA:98907
Hemochromatosis, Type 1	Alopecia, Elevated circulating hepatic transaminase concentration, Cardiomyopathy, Congestive hea...	OMIM:235200
Hemimegalencephaly	Focal cortical dysplasia, Polymicrogyria, Hemimegalencephaly, Gray matter heterotopia, Hyperinten...	ORPHA:99802
Ectodermal Dysplasia And Immunodeficiency 1	Molluscum contagiosum, Abnormal circulating IgG level, Recurrent bacterial infections, Dysgammagl...	OMIM:300291
Osteopetrosis, Autosomal Recessive 4	Increased bone mineral density, Osteopetrosis, Recurrent fractures	OMIM:611490
Ganglioneuroma	Gastrointestinal hemorrhage, Abnormal rectum morphology, Hypertension, Hamartomatous polyposis, E...	ORPHA:251992
Short Chain Acyl-Coa Dehydrogenase Deficiency	Cardiomyopathy, Hepatic steatosis, Lethargy, Hypertonia, Dystonia, Feeding difficulties	ORPHA:26792
Benign Samaritan Congenital Myopathy	Epicanthus, Lethargy, Narrow mouth, Fasciculations	ORPHA:324581
Tooth Agenesis, Selective, 9	Taurodontia, Selective tooth agenesis, Microdontia	OMIM:617275
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Palmoplantar keratoderma, ...	ORPHA:2309
Combined Oxidative Phosphorylation Defect Type 7	Hypoplasia of the corpus callosum, Distal sensory impairment, Abnormal cerebral white matter morp...	ORPHA:254930
Structural Brain Anomalies With Impaired Intellectual Development And Craniosynostosis	Lambdoidal craniosynostosis, Lateral ventricle dilatation, Hypoplasia of the pons, Bicoronal syno...	OMIM:618736
Magel2-Related Prader-Willi-Like Syndrome	Small hand, Xerostomia, Cryptorchidism, Chronic constipation, Primary amenorrhea, Short foot, Gas...	ORPHA:398069
Hall-Riggs Syndrome	Coarse hair, Delayed eruption of teeth, Downturned corners of mouth, Abnormal dental enamel morph...	ORPHA:2107
Sim1-Related Prader-Willi-Like Syndrome	Small pituitary gland, Small hand, Xerostomia, Downturned corners of mouth, Recurrent respiratory...	ORPHA:398079
Alstrom Syndrome	Hepatic steatosis, Sensorineural hearing impairment, Subcapsular cataract, Tubulointerstitial nep...	OMIM:203800
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Agenesis of corpus callo...	ORPHA:2919
Frontonasal Dysplasia-Alopecia-Genital Anomalies Syndrome	Low-set ears, Abnormality of the dentition, Conical tooth, Alopecia, Fine hair, Hypogonadism, Tel...	ORPHA:228390
Neurodevelopmental Disorder With Hypotonia And Variable Intellectual And Behavioral Abnormalities	Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Brac...	OMIM:618603
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Depressed nasal bridge, Downturned corners of mouth, Anteverted nares, Abnormal periventricular w...	OMIM:613443
Immunodeficiency 49	Abnormally low T cell receptor excision circle level, Short palpebral fissure, Natal tooth, Lymph...	OMIM:617237
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy	Alopecia, Ridged nail, Nail dystrophy, Decreased helper T cell proportion, T lymphocytopenia, Nai...	OMIM:601705
Cockayne Syndrome B	Dry hair, Carious teeth, Abnormal hair morphology, Cryptorchidism, Sensorineural hearing impairme...	OMIM:133540
Florid Cemento-Osseous Dysplasia	Abnormal cementum morphology, Mandibular osteomyelitis, Periapical bone loss, Dental malocclusion...	ORPHA:83451
Alopecia, Neurologic Defects, And Endocrinopathy Syndrome	Small pituitary gland, Alopecia, Carious teeth, Hypodontia, Hypogonadotropic hypogonadism, Ulnar ...	OMIM:612079
Ataxia-Telangiectasia	Abnormal hair morphology, Lymphopenia, Decreased proportion of CD4-positive helper T cells, Abnor...	OMIM:208900
Bartsocas-Papas Syndrome 1	Low-set ears, Small nail, Alopecia totalis, Micrognathia, Absent eyelashes, Talipes equinovarus, ...	OMIM:263650
9q subtelomeric deletion syndrome	Microcephaly, Anteverted nares, Protruding tongue, Short nose	DECIPHER:52
Mevalonic Aciduria	Low-set ears, Diarrhea, Morbilliform rash, Hepatosplenomegaly, Fluctuating hepatomegaly, Ataxia, ...	OMIM:610377
Paget Disease Of Bone 3	Patchy osteosclerosis, Fractures of the long bones, Osteolysis	OMIM:167250
Immunodeficiency 72 With Autoinflammation And Lymphoproliferation	Recurrent infections, Herpes simplex encephalitis, Recurrent otitis media, Increased circulating ...	OMIM:618982
Schwartz-Jampel Syndrome	Elbow dislocation, Pursed lips, Micrognathia, Narrow mouth, Genu valgum, Generalized hirsutism, T...	ORPHA:800
Familial Partial Lipodystrophy, Dunnigan Type	Secondary amenorrhea, Congestive heart failure, Hypertrophic cardiomyopathy, Splenomegaly, Hepati...	ORPHA:2348
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Lethargy, Tetraplegia, Hypertonia	OMIM:274270
Immunodeficiency 78 With Autoimmunity And Developmental Delay	Persistent CMV viremia, Fluctuating splenomegaly, Recurrent otitis media, Autoimmune hemolytic an...	OMIM:619220
Homocystinuria-Megaloblastic Anemia, Cblg Complementation Type	Slender finger, Spasticity, Diarrhea, Vomiting, Decreased methionine synthase activity, Blindness...	OMIM:250940
Neurodevelopmental Disorder With Impaired Language, Behavioral Abnormalities, And Dysmorphic Facies	Crumpled ear, Small nail, Hearing impairment, Clinodactyly, Frontal upsweep of hair, Epicanthus, ...	OMIM:620494
De Barsy Syndrome	Low-set ears, High myopia, Narrow mouth, Cryptorchidism, Epicanthus, Talipes equinovarus, Bilater...	ORPHA:2962
Whim Syndrome	Pneumonia, Recurrent pneumonia, Recurrent upper respiratory tract infections, Lymphadenitis, Seps...	ORPHA:51636
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Abnormal mandible morphology, Submucous cleft hard palate, Abnormality of th...	ORPHA:3201
Lethal Recessive Chondrodysplasia	Generalized osteosclerosis	ORPHA:1423
Ackerman Syndrome	Taurodontia, Broad philtrum	OMIM:200970
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities	Highly arched eyebrow, Bifid uvula, Downturned corners of mouth, Long philtrum, Hypertrophic card...	OMIM:619121
Factor Vii And Factor Viii, Combined Deficiency Of	Intestinal bleeding	OMIM:134430
Ophthalmomandibulomelic Dysplasia	Mesomelia, Radioulnar dislocation, Aplasia/Hypoplasia of the radius, Synostosis of carpal bones, ...	ORPHA:2741
Myopathy With Extrapyramidal Signs	Elevated circulating hepatic transaminase concentration, Chorea, Tented upper lip vermilion, Sple...	OMIM:615673
Bardet-Biedl Syndrome 1	Postaxial foot polydactyly, Hearing impairment, Reduced visual acuity, Ataxia, Foot polydactyly, ...	OMIM:209900
Bleeding Disorder, Platelet-Type, 22	Gastrointestinal hemorrhage, Excessive bleeding from superficial cuts, Subcutaneous hemorrhage, I...	OMIM:618462
Budd-Chiari Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Acute hepat...	ORPHA:131
Tremor-Ataxia-Central Hypomyelination Syndrome	Spasticity, Delayed eruption of teeth, Postural tremor, Impaired vibration sensation in the lower...	ORPHA:447896
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Conjunctivitis, Blepharitis, Abnormality of the nail	ORPHA:254478
Aceruloplasminemia	Memory impairment, Abnormal corpus striatum morphology, Chorea, Limb ataxia, Gait ataxia, Abnorma...	ORPHA:48818
Hypophosphatemic Rickets, Autosomal Dominant	Hypophosphatemic rickets, Rickets, Osteomalacia	OMIM:193100
Tooth Agenesis, Selective, 7	Taurodontia, Agenesis of permanent teeth	OMIM:616724
Axenfeld-Rieger Syndrome, Type 2	Hypoplasia of the maxilla, Microcornea, Anal stenosis, Hearing impairment, Telecanthus, Blindness...	OMIM:601499
Vitamin D-Dependent Rickets, Type 2A	Alopecia universalis, Subperiosteal bone resorption, Carious teeth, Delayed eruption of teeth, He...	OMIM:277440
Peroxisome Biogenesis Disorder 8A (Zellweger)	Glossoptosis, Death in infancy	OMIM:614876
Hajdu-Cheney Syndrome	Low-set ears, Micrognathia, Narrow mouth, Genu valgum, Fibular bowing, Cryptorchidism, Absent fro...	OMIM:102500
Ataxia-Telangiectasia	Ataxia, Spasticity, Elevated circulating hepatic transaminase concentration, Aplasia/Hypoplasia o...	ORPHA:100
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Retrognathia, Cerebral atrophy, Hypoplasia of the corpus callosum, Glossoptosis, Thin corpus call...	OMIM:620269
Cherubism	Marcus Gunn pupil, Dental malocclusion, Visual impairment, Constriction of peripheral visual fiel...	OMIM:118400
Intestinal Pseudoobstruction, Neuronal, Chronic Idiopathic, X-Linked	Low-set ears, Congenital shortened small intestine, Pyloric stenosis, Vomiting, Intestinal pseudo...	OMIM:300048
Pseudoprogeria Syndrome	Alopecia, Sparse eyebrow, Absent eyelashes, Progressive spastic quadriplegia, Absent eyebrow, Spa...	ORPHA:2985
Diamond-Blackfan Anemia	Low-set ears, Macrocytic dyserythropoietic anemia, Persistence of hemoglobin F, Cleft soft palate...	ORPHA:124
Hypercholanemia, Familial 1	Steatorrhea, Fat malabsorption	OMIM:607748
Lymphoproliferative Syndrome, X-Linked, 1	Aplastic anemia, Hemophagocytosis, Pancytopenia, Abnormal B cell count, Neutropenia, Recurrent ph...	OMIM:308240
Kleefstra Syndrome 1	Gastroesophageal reflux, Natal tooth, Hearing impairment, Persistence of primary teeth, Protrudin...	OMIM:610253
Pontocerebellar Hypoplasia, Type 3	Reduced cerebral white matter volume, Proptosis, Hypoplasia of the pons, Cerebral atrophy, Cerebe...	OMIM:608027
Rothmund-Thomson Syndrome Type 1	Carious teeth, Aplastic anemia, Diarrhea, Alopecia totalis, Patellar aplasia, Cryptorchidism, Tel...	ORPHA:221008
Prolactinoma	Nausea and vomiting, Decreased fertility in females, Elevated circulating growth hormone concentr...	ORPHA:2965
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Hearing impairment, Finger syndactyly, Open bite, Acute hepatic fai...	ORPHA:2092
Neurodevelopmental Disorder With Or Without Autistic Features And/Or Structural Brain Abnormalities	Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Deeply set eye, Chiari type I malfo...	OMIM:618859
Bathing Suit Ichthyosis	Alopecia, Autoamputation of digits, Impaired temperature sensation, Nail dystrophy, Hypohidrosis,...	ORPHA:100976
Barber-Say Syndrome	Low-set ears, Hearing impairment, Velopharyngeal insufficiency, Micrognathia, Cryptorchidism, Spa...	OMIM:209885
Bresek Syndrome	Low-set ears, Alopecia, Hearing impairment, Decreased testicular size, Cryptorchidism, Neonatal d...	ORPHA:85284
Onychotrichodysplasia And Neutropenia	Sparse pubic hair, Hypoplastic fingernail, Trichorrhexis nodosa, Curly eyelashes, Concave nail, C...	OMIM:258360
Temporal Arteritis	Retinal arteritis, Blindness	OMIM:187360
Acrocraniofacial Dysostosis	Broad thumb, Micrognathia, Genu valgum, Sensorineural hearing impairment, Abnormal toenail morpho...	ORPHA:949
Thiamine-Responsive Megaloblastic Anemia Syndrome	Diarrhea, Congestive heart failure, Paresthesia, Visual loss, Sensorineural hearing impairment, P...	ORPHA:49827
Dyskeratosis Congenita, Autosomal Recessive 6	Bone marrow hypocellularity, Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Ataxia, S...	OMIM:616353
Coffin-Lowry Syndrome	Craniofacial hyperostosis, Open mouth, Sensorineural hearing impairment, Epicanthus, Feeding diff...	ORPHA:192
Short Syndrome	Low-set ears, Cataract, Dental malocclusion, Downturned corners of mouth, Delayed eruption of tee...	OMIM:269880
Polycythemia Vera	Gastrointestinal hemorrhage, Budd-Chiari syndrome, Increased hematocrit, Cerebral hemorrhage, Cer...	OMIM:263300
Warburg Micro Syndrome 1	Wide nasal bridge, Microcornea, Developmental cataract, Microphthalmia	OMIM:600118
Reactive Arthritis	Aortic regurgitation, Inflammation of the large intestine, Diarrhea, Recurrent urinary tract infe...	ORPHA:29207
Spinocerebellar Ataxia, Autosomal Recessive 31	Retrognathia, Gingival overgrowth, Tremor, Dystonia, Smooth philtrum, Ptosis, Ataxia, Bilateral s...	OMIM:619422
Localized Scleroderma	Abnormality of the dentition, Abnormality of vision, Abnormal facial skeleton morphology, Dental ...	ORPHA:90289
Gapo Syndrome	High, narrow palate, Keratoconus, Alopecia, Sparse eyebrow, Eruption failure, Long philtrum, Thic...	OMIM:230740
Duodenal Atresia	Duodenal atresia	OMIM:223400
Robinow Syndrome, Autosomal Dominant 2	Broad thumb, Hearing impairment, Clinodactyly, Cleft soft palate, Micrognathia, Cryptorchidism, S...	OMIM:616331
Ceroid Lipofuscinosis, Neuronal, 7	Blindness, Visual loss, Ataxia	OMIM:610951
Schnitzler Syndrome	Increased bone mineral density, Arthritis	ORPHA:37748
Plasminogen Deficiency, Type I	Nephritis, Recurrent upper respiratory tract infections, Periodontitis, Gingival overgrowth, Blin...	OMIM:217090
Hypohidrotic Ectodermal Dysplasia-Hypothyroidism-Ciliary Dyskinesia Syndrome	Alopecia, Sparse eyebrow, Dystrophic toenail, Fine hair, Dystrophic fingernails, Hypohidrosis, Re...	ORPHA:1882
Joubert Syndrome 35	Low-set ears, Highly arched eyebrow, Recurrent urinary tract infections, Telecanthus, Single tran...	OMIM:618161
Walker-Warburg Syndrome	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma	ORPHA:899
Sandhoff Disease	Spasticity, Cherry red spot of the macula, Fasciculations, Hepatosplenomegaly, Blindness, Impaire...	OMIM:268800
Usher Syndrome Type 2	Iris hypopigmentation, Cataract, Carious teeth, Depression, Abnormal dental enamel morphology, Sc...	ORPHA:231178
Combined Oxidative Phosphorylation Deficiency 51	Focal T2 hyperintense thalamic lesion, Cerebral atrophy	OMIM:619057
Microscopic Polyangiitis	Diarrhea, Nausea and vomiting, Arrhythmia, Abnormal retinal vascular morphology, Abdominal pain, ...	ORPHA:727
Myopathy, Myofibrillar, 8	Dental malocclusion, Micrognathia, Joint contracture of the 5th finger, Mitral regurgitation, Pto...	OMIM:617258
Arrhythmogenic Cardiomyopathy With Variable Ectodermal Abnormalities	High anterior hairline, Dry hair, Coarse hair, Cleft lip, Palmoplantar keratoderma, Ventricular b...	OMIM:620519
Chilton-Okur-Chung Neurodevelopmental Syndrome	Low-set ears, Recurrent otitis media, Ankyloglossia, Micrognathia, Cryptorchidism, Sensorineural ...	OMIM:619841
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Wide nasal bridge, Bulbous nose, Anteverted nares, Micrognathia, Open mouth, Thin upper lip vermi...	OMIM:613604
Menkes Disease	Sparse hair, Spasticity, Gastrointestinal hemorrhage, Sepsis, Spontaneous hematomas, Osteomyeliti...	ORPHA:565
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Wide nasal bridge, Prominent nasal bridge, Micrognathia, Microcephaly, Glossoptosis, Cleft palate	OMIM:618356
Fraser Syndrome 1	Wide nasal bridge, Depressed nasal bridge, Abnormal cortical gyration, Difficulty in tongue movem...	OMIM:219000
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Natal tooth, Small nail, Clinodactyly, Feeding difficulties, Micrognathia, Narrow m...	OMIM:264090
Cogan Syndrome	Aortic regurgitation, Abnormal vestibular function, Vasculitis, Keratitis, Vertigo, Large vessel ...	ORPHA:1467
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Facial telangiectasia in butterfly midface distribution, Alopecia, Telangiectasia of extensor sur...	OMIM:137940
Orofaciodigital Syndrome I	Low-set ears, Dry hair, Carious teeth, Hearing impairment, Clinodactyly, Ankyloglossia, Ovarian c...	OMIM:311200
Rubinstein-Taybi Syndrome Due To Ep300 Haploinsufficiency	Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Crypt...	ORPHA:353284
Rubinstein-Taybi Syndrome Due To Crebbp Mutations	Low-set ears, Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Micrognathia, Crypt...	ORPHA:353277
Adrenoleukodystrophy	Spastic paraplegia, Alopecia, Hearing impairment, Incoordination, Hypogonadism, Limb ataxia, Blin...	OMIM:300100
Immunodeficiency 14A With Lymphoproliferation, Autosomal Dominant	Decreased specific pneumococcal antibody level, Splenomegaly, Decreased circulating IgG2 level, D...	OMIM:615513
Neurodevelopmental Disorder With Movement Abnormalities, Abnormal Gait, And Autistic Features	Highly arched eyebrow, Gastroesophageal reflux, Downturned corners of mouth, Widely spaced teeth,...	OMIM:617865
Lymphoproliferative Syndrome 2	Recurrent pneumonia, Sepsis, Aplastic anemia, Hemophagocytosis, Severe varicella zoster infection...	OMIM:615122
Autosomal Recessive Cerebellar Ataxia-Epilepsy-Intellectual Disability Syndrome Due To Tud Deficiency	Brachycephaly, Ataxia	ORPHA:404493
Menke-Hennekam Syndrome 1	Low-set ears, Hearing impairment, Everted upper lip vermilion, Overlapping toe, Micrognathia, Cry...	OMIM:618332
Familial Hypofibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:101041
Familial Dysfibrinogenemia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding	ORPHA:98881
Chylomicron Retention Disease	Steatorrhea, Accumulation of lipid droplets in small-bowel enterocytes, Vomiting, Diarrhea	OMIM:246700
Immunodeficiency 103, Susceptibility To Fungal Infections	Chronic tinea infection, Increased circulating IgE level, Hypereosinophilia, Abnormal B cell coun...	OMIM:212050
Mmep Syndrome	Microphthalmia	ORPHA:3434
Progeroid Short Stature With Pigmented Nevi	Allergic rhinitis, Cataract, Aortic valve stenosis, High-frequency hearing impairment, Recurrent ...	OMIM:176690
Immunodeficiency 64 With Lymphoproliferation	Increased proportion autoreactive unresponsive CD21-/low B cells, Decreased circulating IgG level...	OMIM:618534
Multiple Pterygium Syndrome, Escobar Variant	Low-set ears, Intercrural pterygium, Exostosis of the external auditory canal, Micrognathia, Narr...	OMIM:265000
Gyrate Atrophy Of Choroid And Retina	Cataract, Hearing impairment, Abnormal hair morphology, Constriction of peripheral visual field, ...	ORPHA:414
Posterior Column Ataxia With Retinitis Pigmentosa	Cataract, Joint contracture of the hand, Recurrent urinary tract infections, Impaired vibration s...	OMIM:609033
Acromelic Frontonasal Dysostosis	Wide nasal bridge, Bifid nasal tip, Broad nasal tip, Cleft upper lip, Midline defect of the nose,...	OMIM:603671
Porphyria Cutanea Tarda	Alopecia, Facial hypertrichosis, Onycholysis, Cirrhosis, Reduced uroporphyrinogen decarboxylase a...	OMIM:176100
Aniridia-Intellectual Disability Syndrome	Cataract, Aniridia, Ectopia lentis, Optic nerve hypoplasia	ORPHA:1068
Aromatic L-Amino Acid Decarboxylase Deficiency	Blepharospasm, Hypotension, Oculogyric crisis, Gastroesophageal reflux, Diarrhea, Limb dystonia, ...	OMIM:608643
Griscelli Syndrome Type 2	Iris hypopigmentation, Hemophagocytosis, Premature graying of hair, Pancytopenia, Nausea and vomi...	ORPHA:79477
Retinitis Pigmentosa 29	Attenuation of retinal blood vessels, Blindness	OMIM:612165
Frontonasal Dysplasia 1	Wide nasal bridge, Bifid nasal tip, Hypoplasia of the maxilla, Broad nasal tip, Short columella, ...	OMIM:136760
Propionic Acidemia	Vomiting, Eczematoid dermatitis, Cardiomyopathy, Pancytopenia, Propionyl-CoA carboxylase deficien...	OMIM:606054
Microphthalmia, Isolated, With Corectopia	Ectopia pupillae, Microphthalmia	OMIM:156900
Intellectual Disability-Muscle Weakness-Short Stature-Facial Dysmorphism Syndrome	Highly arched eyebrow, Carious teeth, Thick lower lip vermilion, Downslanted palpebral fissures, ...	ORPHA:457365
Xeroderma Pigmentosum	Craniofacial hyperostosis, Spasticity, Hearing impairment, Cryptorchidism, Sensorineural hearing ...	ORPHA:910
Rhombencephalosynapsis	Ataxia, Fusion of the left and right thalami, Fusion of the cerebellar hemispheres, Abnormal dent...	ORPHA:59315
Pancreatic Triacylglycerol Lipase Deficiency	Diarrhea, Exocrine pancreatic insufficiency, Abdominal pain, Keratoconjunctivitis sicca, Iron def...	ORPHA:309031
De Sanctis-Cacchione Syndrome	Ataxia, Spasticity, Keratitis, Bilateral cryptorchidism, Sensorineural hearing impairment, Telang...	OMIM:278800
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Alopecia, Decreased circulating IgG level, Gastroesophageal reflux,...	OMIM:620040
4Q21 Microdeletion Syndrome	Low-set ears, Abnormality of the dentition, Small hand, Toe syndactyly, Hearing impairment, Downt...	ORPHA:238750
Caspase 8 Deficiency	Pneumonia, Decreased circulating IgG level, Eczematoid dermatitis, Decreased CD4:CD8 ratio, Decre...	OMIM:607271
Cyclic Vomiting Syndrome	Vomiting, Hearing impairment, Cardiomyopathy, Anorexia, Nausea, Lethargy, Gastrointestinal dysmot...	OMIM:500007
Pitt-Hopkins Syndrome	Tooth malposition, Abnormal helix morphology, Small hand, Supernumerary nipple, Esophagitis, Cryp...	ORPHA:2896
Hyper-Igd Syndrome	Diarrhea, Lymphadenitis, Molluscum contagiosum, Hepatosplenomegaly, Oral ulcer, Increased circula...	OMIM:260920
Intellectual Developmental Disorder, X-Linked, Syndromic 35	Hearing impairment, Contracture of the proximal interphalangeal joint of the 2nd finger, High myo...	OMIM:300998
Plague	Inflammation of the large intestine, Diarrhea, Lymphadenitis, Hearing impairment, Ileitis, Arrhyt...	ORPHA:707
Dermatoosteolysis, Kirghizian Type	Abnormality of the dentition, Keratitis, Dystrophic toenail, Abnormal diaphysis morphology, Abnor...	ORPHA:1657
Heme Oxygenase 1 Deficiency	Nephritis, Diffuse alveolar hemorrhage, Epistaxis, Increased circulating lactate dehydrogenase co...	OMIM:614034
Immunodeficiency, Common Variable, 10	Decreased circulating IgG level, Recurrent pneumonia, Frequent Giardia lamblia infestation, Recur...	OMIM:615577
Bietti Crystalline Dystrophy	Color vision defect, Visual impairment, Constriction of peripheral visual field, Blindness, Centr...	ORPHA:41751
Otopalatodigital Syndrome Type 1	Synostosis of carpal bones, Limitation of joint mobility, Increased bone mineral density, Abnorma...	ORPHA:90650
Moynahan Syndrome	Hypogonadism, Alopecia, Sparse hair, Sensorineural hearing impairment	ORPHA:2574
T-Cell Immunodeficiency With Thymic Aplasia	Diarrhea, Aplasia of the thymus, Meningitis, Chronic otitis media, Eczematoid dermatitis, Opportu...	ORPHA:83471
Intellectual Developmental Disorder, X-Linked 58	Myopia, Short philtrum, Dental malocclusion, Small nail	OMIM:300210
Doors Syndrome	Low-set ears, Toenail dysplasia, Atresia of the external auditory canal, Aspiration pneumonia, Sh...	ORPHA:79500
Developmental And Epileptic Encephalopathy 68	Flexion contracture, Exaggerated startle response	OMIM:618201
Kleefstra Syndrome	Hearing impairment, Supernumerary nipple, Cryptorchidism, Talipes equinovarus, Arrhythmia, Everte...	ORPHA:261494
Carnitine Palmitoyltransferase Ii Deficiency, Lethal Neonatal	Low-set ears, Diarrhea, Lipid accumulation in hepatocytes, Arrhythmia, Feeding difficulties in in...	OMIM:608836
Impaired Intellectual Development, Obesity, Mandibular Prognathism, And Eye And Skin Anomalies	Atopic dermatitis, Dental crowding, Telecanthus, Reduced visual acuity, Ptosis, Hallux valgus, Bl...	OMIM:606772
Robinow Syndrome, Autosomal Dominant 3	Low-set ears, Broad thumb, Hearing impairment, Clinodactyly, Micrognathia, Cryptorchidism, Epican...	OMIM:616894
Multiple Pterygium-Malignant Hyperthermia Syndrome	Onychogryposis of fingernail, Finger syndactyly, Narrow mouth, Cryptorchidism, Arachnodactyly, Ta...	ORPHA:2215
Vitamin B12-Unresponsive Methylmalonic Acidemia	Cardiomyopathy, Tetraparesis, Leukopenia, Nausea and vomiting, Macrocytic anemia, Hepatomegaly, L...	ORPHA:27
Nance-Horan Syndrome	Microcornea, Posterior Y-sutural cataract, Diastema, Supernumerary maxillary incisor, Broad finge...	OMIM:302350
Congenital Primary Aphakia	Corneal perforation, Aniridia, Congenital aphakia, Aplasia/Hypoplasia affecting the anterior segm...	ORPHA:83461
Helsmoortel-Van Der Aa Syndrome	Low-set ears, Small hand, Carious teeth, Ankyloglossia, Genu valgum, Cryptorchidism, Mitral regur...	OMIM:615873
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Microphthalmia	OMIM:251270
Congenital Disorder Of Glycosylation, Type Id	Bifid uvula, Joint contracture of the hand, Diarrhea, Vomiting, Small nail, Clinodactyly, Spastic...	OMIM:601110
Xeroderma Pigmentosum, Complementation Group A	Spasticity, Keratitis, Distal sensory impairment, Sensorineural hearing impairment, Telangiectasi...	OMIM:278700
Malan Syndrome	Retrognathia, Gingival overgrowth, Narrow mouth, Hypoplasia of the corpus callosum, Hyperplasia o...	OMIM:614753
Chromosome 18Q Deletion Syndrome	Aortic valve stenosis, Toe syndactyly, Atresia of the external auditory canal, Hearing impairment...	OMIM:601808
Lacrimal Duct Defect	Lacrimal duct atresia, Dacryocystocele, Sinusitis, Conjunctivitis, Dacryocystitis	OMIM:149700
Coffin-Siris Syndrome	Small nail, Hearing impairment, Aspiration pneumonia, Clinodactyly, Hypoplastic fifth fingernail,...	ORPHA:1465
Monilethrix	Abnormality of the dentition, Cataract, Fine hair, Abnormal eyebrow morphology, Patchy alopecia, ...	ORPHA:573
Seckel Syndrome 1	Low-set ears, Pancytopenia, Micrognathia, Cryptorchidism, Blepharophimosis, Dislocated radial hea...	OMIM:210600
Pyruvate Dehydrogenase E3 Deficiency	Spasticity, Hepatic failure, Elevated circulating hepatic transaminase concentration, Vomiting, C...	ORPHA:2394
Coloboma-Obesity-Hypogenitalism-Impaired Intellectual Development Syndrome	Cataract, Microphthalmia	OMIM:601794
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome	Finger syndactyly, Supernumerary nipple, Micrognathia, Sparse eyelashes, Sparse hair, Non-midline...	ORPHA:1071
Mucopolysaccharidosis, Type Vi	Reduced leukocyte arylsulfatase B activity, Carious teeth, Hearing impairment, Genu valgum, Mitra...	OMIM:253200
Otopalatodigital Syndrome, Type I	Toe syndactyly, Synostosis of carpal bones, Narrow mouth, Absent frontal sinuses, Short hallux, D...	OMIM:311300
Tarp Syndrome	Hearing impairment, Finger syndactyly, Clinodactyly, Extramedullary hematopoiesis, Micrognathia, ...	ORPHA:2886
Narp Syndrome	Hearing impairment, Retinal arteriolar tortuosity, Constriction of peripheral visual field, Blind...	ORPHA:644
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Lissencephaly, Bifid uvula, Retrognathia, Secondary microcephaly, Anteverted nares, Death in chil...	OMIM:612938
20P13 Microdeletion Syndrome	Low-set ears, Highly arched eyebrow, Hypoplastic helices, Microcornea, Small nail, Finger syndact...	ORPHA:313781
Orofaciodigital Syndrome Ii	Depressed nasal bridge, Bifid nasal tip, Broad nasal tip, Hypoplasia of the maxilla, Lobulated to...	OMIM:252100
Brain Malformation-Congenital Heart Disease-Postaxial Polydactyly Syndrome	Alopecia, Coarse hair, Long philtrum, Nail dystrophy, Upslanted palpebral fissure, Posterior pitu...	ORPHA:75389
Encephalopathy, Acute, Infection-Induced (Herpes-Specific), Susceptibility To, 8	Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis	OMIM:617900
Intellectual Disability-Seizures-Macrocephaly-Obesity Syndrome	Underdeveloped superior crus of antihelix, Hearing impairment, Micrognathia, Narrow mouth, Hemipa...	ORPHA:369950
Coats Disease	Cataract, Abnormal anterior chamber morphology, Aplasia/Hypoplasia of the iris	ORPHA:190
Acrodysostosis	Hearing impairment, Open bite, Open mouth, Cryptorchidism, Bowing of the long bones, Epicanthus, ...	ORPHA:950
Chromosome 13Q33-Q34 Deletion Syndrome	Hearing impairment, Overlapping toe, Micrognathia, Open mouth, Irregular dentition, Cryptorchidis...	OMIM:619148
Aniridia, Microcornea, And Spontaneously Reabsorbed Cataract	Cataract, Aniridia, Microcornea	OMIM:106230
Andersen Cardiodysrhythmic Periodic Paralysis	Low-set ears, Small hand, Toe syndactyly, Periodic hypokalemic paresis, Bidirectional ventricular...	OMIM:170390
Chondrodysplasia, Blomstrand Type	Advanced tarsal ossification, Advanced ossification of carpal bones, Generalized osteosclerosis	OMIM:215045
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency	Brachycephaly, Attention deficit hyperactivity disorder, Abnormal thalamus morphology	ORPHA:404440
Intellectual Disability-Obesity-Prognathism-Eye And Skin Anomalies Syndrome	Atopic dermatitis, Hypoplasia of the maxilla, Telecanthus, Cone-shaped epiphyses of the 3rd toe, ...	ORPHA:397973
Adams-Oliver Syndrome 4	Microphthalmia	OMIM:615297
Hypotrichosis-Lymphedema-Telangiectasia-Renal Defect Syndrome	Alopecia, Palmar telangiectasia, Sparse body hair, Abnormality of the lymphatic system, Absent ey...	ORPHA:69735
X-Linked Neurodegenerative Syndrome, Hamel Type	Spasticity, Blindness	ORPHA:85336
Deafness-Lymphedema-Leukemia Syndrome	Bone marrow hypocellularity, Acute leukemia, Prolonged bleeding time, Bruising susceptibility, Re...	ORPHA:3226
Isovaleric Acidemia	Bone marrow hypocellularity, Vomiting, Pancytopenia, Leukopenia, Cerebellar hemorrhage, Lethargy,...	OMIM:243500
Frank-Ter Haar Syndrome	Acne, Delayed eruption of teeth, Downslanted palpebral fissures, Camptodactyly of finger, Wide mo...	ORPHA:137834
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 2	Hepatic steatosis, Epicanthus, Cirrhosis, Primary amenorrhea, Hepatomegaly, Bilateral sensorineur...	OMIM:619418
Adenylosuccinate Lyase Deficiency	Microcephaly, Brachycephaly, Hypointensity of cerebral white matter on MRI, Flat occiput	ORPHA:46
Verheij Syndrome	Branchial cyst, Intrauterine growth retardation, Short neck, Short stature, Growth delay	OMIM:615583
Autosomal Dominant Hyper-Ige Syndrome Due To Stat3 Deficiency	Abnormality of the dentition, Eczematoid dermatitis, Delayed eruption of teeth, Recurrent respira...	ORPHA:2314
Immunodeficiency 75 With Lymphoproliferation	Hepatosplenomegaly, Follicular hyperplasia, Decreased proportion of class-switched memory B cells...	OMIM:619126
Granulomatosis With Polyangiitis	Nausea and vomiting, Intestinal obstruction, Sensorineural hearing impairment, Prostatitis, Arrhy...	ORPHA:900
Mitochondrial Complex Iii Deficiency, Nuclear Type 8	Spasticity, Babinski sign, Lethargy, Ptosis, Ataxia, Anemia, Spastic tetraparesis, Visual impairment	OMIM:615838
Epilepsy, Progressive Myoclonic, 9	Microglossia, Agenesis of corpus callosum, Simplified gyral pattern	OMIM:616540
Combined Oxidative Phosphorylation Deficiency 52	Hypertrophic cardiomyopathy, Elevated circulating aspartate aminotransferase concentration, Hepat...	OMIM:619386
Immunodeficiency 27A	Pneumonia, Diarrhea, Increased circulating IgG level, Anorexia, Hepatosplenomegaly, Leukocytosis,...	OMIM:209950
Colobomatous Microphthalmia-Obesity-Hypogenitalism-Intellectual Disability Syndrome	Cataract, Microphthalmia	ORPHA:363741
Renpenning Syndrome 1	Joint contracture of the hand, Spasticity, Hearing impairment, Micrognathia, Narrow mouth, Epican...	OMIM:309500
Au-Kline Syndrome	Supernumerary nipple, Overlapping toe, Feeding difficulties, Open mouth, Cryptorchidism, Sensorin...	OMIM:616580
Autoimmune Lymphoproliferative Syndrome Due To Ctla4 Haploinsuffiency	Inflammation of the large intestine, Diarrhea, Psoriasiform dermatitis, Hepatomegaly, Recurrent l...	ORPHA:436159
Megalocornea	Cataract, Deep anterior chamber, Megalocornea, Lens subluxation, Astigmatism, Iridodonesis, Iris ...	OMIM:309300
Rothmund-Thomson Syndrome Type 2	Carious teeth, Aplastic anemia, Diarrhea, Alopecia totalis, Patellar aplasia, Aplasia/hypoplasia ...	ORPHA:221016
Graft Versus Host Disease	Inflammatory abnormality of the skin, Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Oral ulcer,...	ORPHA:39812
Immunodeficiency 83, Susceptibility To Viral Infections	Meningitis, Lethargy, Herpes simplex encephalitis, Hemiparesis	OMIM:613002
Late-Infantile/Juvenile Krabbe Disease	Delayed brainstem auditory evoked response conduction time, Spastic paraparesis, Neuromuscular dy...	ORPHA:206443
Congenital Progressive Bone Marrow Failure-B-Cell Immunodeficiency-Skeletal Dysplasia Syndrome	Hearing impairment, Lymphopenia, Neutropenia, Recurrent lower respiratory tract infections, Short...	ORPHA:508542
Pontocerebellar Hypoplasia Type 2	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Hypoplasia of the corpus callosum, Dysp...	ORPHA:2524
20P12.3 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Narrow mouth...	ORPHA:261295
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Diarrhea, Stercoral ulcer, Abnormal g...	ORPHA:263665
Systemic Sclerosis	Intestinal bleeding, Finger swelling, Narrow mouth, Telangiectasia, Glomerulonephritis, Recurrent...	ORPHA:90291
Incisors, Shovel-Shaped	Shovel-shaped maxillary central incisors	OMIM:147400
Mccune-Albright Syndrome	Hearing impairment, Increased circulating prolactin concentration, Cholestasis, Pancytopenia, Dec...	ORPHA:562
Mitochondrial Complex Iv Deficiency, Nuclear Type 19	Protein-losing enteropathy	OMIM:619063
Intellectual Developmental Disorder, Autosomal Dominant 70	Wide nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Hypoplasia of the pons, Retrognath...	OMIM:620157
Isolated Aniridia	Cataract, Aniridia, Peters anomaly, Aplasia/Hypoplasia of the macula	ORPHA:250923
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Epistaxis, Prolonged bleedi...	OMIM:203300
Autosomal Dominant Robinow Syndrome	Low-set ears, Onychogryposis of fingernail, Hearing impairment, Elbow dislocation, Finger syndact...	ORPHA:3107
Trichodysplasia-Xeroderma Syndrome	Alopecia, Coarse hair, Sparse eyebrow, Sparse body hair, Trichorrhexis nodosa, Trichodysplasia, P...	ORPHA:3361
Glycine Encephalopathy 1	Lethargy, Myoclonus	OMIM:605899
Immunodeficiency 91 And Hyperinflammation	Recurrent pneumonia, Elevated circulating hepatic transaminase concentration, Increased circulati...	OMIM:619644
Ichthyosis, Congenital, Autosomal Recessive 2	Alopecia, Palmoplantar keratoderma, Small nail, Short toe, Short finger, Abnormal hair morphology...	OMIM:242100
Microcephaly-Lymphedema-Chorioretinopathy Syndrome	Spasticity, Abnormal hair morphology, Abnormal toenail morphology, Abnormal nasolacrimal system m...	ORPHA:2526
Jaberi-Elahi Syndrome	Low-set ears, Cataract, Sparse eyebrow, Hand clenching, Visual impairment, Fine hair, Gait ataxia...	OMIM:617988
Developmental And Epileptic Encephalopathy 41	Spasticity, Delayed eruption of teeth, Tetraparesis, Babinski sign, Lethargy, Feeding difficulties	OMIM:617105
Taurodontism	Taurodontia	OMIM:272700
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Small nail, Hearing impairment, Cleft mandible, Everted lower lip vermilion, Pierre-Robin sequenc...	ORPHA:364577
Polymicrogyria With Optic Nerve Hypoplasia	Dysplastic corpus callosum, Colpocephaly, Agenesis of corpus callosum, Polymicrogyria	ORPHA:250972
Leishmaniasis	Abnormal oral mucosa morphology, Elevated circulating hepatic transaminase concentration, Abnorma...	ORPHA:507
Optic Disc Anomalies With Retinal And/Or Macular Dystrophy	Cataract, Corneal scarring, Microphthalmia, Buphthalmos, Iris coloboma	OMIM:212550
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Leukocyte Adhesion Deficiency Type Ii	Recurrent otitis media, Microcytic anemia, Overlapping toe, Protruding tongue, Neutrophilia, Atax...	ORPHA:99843
Autosomal Recessive Distal Osteolysis Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Broad nasal tip	ORPHA:2776
Japanese Encephalitis	Abnormality of the internal capsule, Abnormal thalamus morphology, Abnormal substantia nigra morp...	ORPHA:79139
Nasopalpebral Lipoma-Coloboma Syndrome	Low-set ears, Cataract, Sparse eyebrow, Hypoplasia of the maxilla, Cupped ear, Hamartoma of the o...	ORPHA:2399
Palmoplantar Keratoderma And Congenital Alopecia 2	Camptodactyly of finger, Alopecia totalis, Nail dystrophy, Nail dysplasia, Palmoplantar hyperkera...	OMIM:212360
Idiopathic Intracranial Hypertension	Diplopia, Scintillating scotoma, Depression, Vomiting, Vertigo, Visual loss, Blurred vision, Naus...	ORPHA:238624
Immune Thrombocytopenia	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Hemorrhage of...	ORPHA:3002
Epidermolysis Bullosa, Junctional 1A, Intermediate	Carious teeth, Camptodactyly of finger, Palmar hyperhidrosis, Nail dystrophy, Oral mucosal bliste...	OMIM:226650
Cloverleaf Skull-Multiple Congenital Anomalies Syndrome	Wide nasal bridge, Cataract, Microphthalmia	ORPHA:93267
Neovascular Glaucoma	Retinal vein occlusion, Rubeosis iridis, Uveal ectropion, Visual loss, Conjunctival hyperemia, Re...	ORPHA:94058
Coloboma, Congenital Heart Disease, Ichthyosiform Dermatosis, Impaired Intellectual Development, And Ear Anomalies Syndrome	Joint contracture of the hand, Clinodactyly, Broad 2nd toe, Open mouth, Elevated circulating alka...	OMIM:280000
Familial Colorectal Cancer Type X	Gastrointestinal hemorrhage, Depression, Pituitary adenoma, Pancreatic adenocarcinoma, Neoplasm o...	ORPHA:440437
Leber Congenital Amaurosis 2	Cataract, Keratoconus, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, Ny...	OMIM:204100
Metaphyseal Dysplasia With Maxillary Hypoplasia With Or Without Brachydactyly	Hypoplasia of the maxilla, Convex nasal ridge, Thin vermilion border, Short philtrum, Premature l...	OMIM:156510
Ichthyosis, Congenital, Autosomal Recessive 1	Alopecia, Nail dystrophy, Nail dysplasia, Erythroderma, Everted lower lip vermilion, Palmoplantar...	OMIM:242300
Congenital Enterocyte Heparan Sulfate Deficiency	Protein-losing enteropathy, Diarrhea, Hematochezia	ORPHA:103910
Intellectual Disability-Obesity-Brain Malformations-Facial Dysmorphism Syndrome	Cerebral cortical atrophy, Hypoplasia of the corpus callosum, Cerebellar hypoplasia, Microcephaly...	ORPHA:352530
Granulomatosis With Polyangiitis	Diffuse alveolar hemorrhage, Keratitis, Episcleritis, Oral ulcer, Localized pulmonary hemorrhage,...	OMIM:608710
Rodrigues Blindness	Tooth malposition, Microcornea, Fine hair, Blindness, Protruding ear, Sclerocornea, Sparse hair	OMIM:268320
Developmental Delay With Short Stature, Dysmorphic Facial Features, And Sparse Hair 1	Low-set ears, Sparse eyebrow, Natal tooth, Downslanted palpebral fissures, Micrognathia, Hypoplas...	OMIM:616901
W Syndrome	Abnormality of the scalp hair, Upper lip pit, Spasticity, Broad uvula, Radial bowing, Elbow dislo...	ORPHA:2804
Moebius Syndrome	Hearing impairment, Finger syndactyly, Micrognathia, Open mouth, Epicanthus, Talipes equinovarus,...	ORPHA:570
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 1	Keratoconus, Microcornea, Recurrent pneumonia, Dental crowding, Gastrointestinal hemorrhage, Brui...	OMIM:225400
Citrullinemia Type I	Spasticity, Hepatic failure, Gastroesophageal reflux, Vomiting, Scotoma, Ankle clonus, Lethargy, ...	ORPHA:247525
Cerebroretinal Microangiopathy With Calcifications And Cysts 3	Gastrointestinal hemorrhage, Feeding difficulties	OMIM:620368
Retinal Capillary Malformation	Retinal capillary hemangioma, Hyphema, Blindness, Blurred vision, Vitreous floaters, Reduced visu...	ORPHA:71213
Turnpenny-Fry Syndrome	Low-set ears, Small hand, Clinodactyly, Overlapping toe, Narrow mouth, Chronic constipation, Feed...	OMIM:618371
Mitochondrial Complex I Deficiency, Nuclear Type 1	Tongue fasciculations, Spasticity, Hepatic failure, Vomiting, Concentric hypertrophic cardiomyopa...	OMIM:252010
Van Maldergem Syndrome 1	Atresia of the external auditory canal, Clinodactyly, Cutaneous finger syndactyly, Micrognathia, ...	OMIM:601390
Codas Syndrome	Cataract, Crumpled ear, Delayed eruption of teeth, Abnormal dental enamel morphology, Abnormal de...	ORPHA:1458
7Q11.23 Microduplication Syndrome	Aortic valve stenosis, Hearing impairment, Abnormal earlobe morphology, Micrognathia, Short lingu...	ORPHA:96121
Cleidocranial Dysplasia	Carious teeth, Hearing impairment, Open bite, Micrognathia, Genu valgum, Abnormal metacarpal morp...	ORPHA:1452
Sjogren-Larsson Syndrome	Color vision defect, Spasticity, Spastic paraparesis, Abnormal hair morphology, Astigmatism, Redu...	OMIM:270200
Combined Oxidative Phosphorylation Defect Type 23	Abnormal basal ganglia MRI signal intensity, Cognitive impairment, Abnormal thalamic MRI signal i...	ORPHA:444013
Neurodevelopmental Disorder With Speech Impairment And With Or Without Seizures	Macrodontia of permanent maxillary central incisor, Gastroesophageal reflux, Depression, Hearing ...	OMIM:620114
Homocystinuria-Megaloblastic Anemia, Cble Complementation Type	Normocytic anemia, Decreased methionine synthase activity, Blindness, Hyperkinetic movements, Let...	OMIM:236270
Carey-Fineman-Ziter Syndrome	Long philtrum, Aplasia/Hypoplasia of the tongue, Cerebral calcification, Anteverted nares, Microg...	ORPHA:1358
Martin-Probst Syndrome	Low-set ears, Dental malocclusion, Thick lower lip vermilion, Telecanthus, Micrognathia, Pancytop...	OMIM:300519
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 6	Hypertrophic cardiomyopathy, Chorea, Lethargy, Ataxia, Bradykinesia	OMIM:618683
Retinitis Pigmentosa 4	Cataract, Attenuation of retinal blood vessels, Blindness, Visual field defect, Reduced visual ac...	OMIM:613731
Amoebiasis Due To Free-Living Amoebae	Pneumonia, Corneal perforation, Increased red blood cell count, Ataxia, Granuloma, Diplopia, Unus...	ORPHA:68
Methylmalonic Acidemia With Homocystinuria, Type Cbld	Lethargy, Anorexia	ORPHA:79283
Congenital Tufting Enteropathy	Vomiting, Secretory diarrhea, Abnormal large intestinal mucosa morphology, Villous atrophy, Abnor...	ORPHA:92050
Familial Cold Autoinflammatory Syndrome 2	Recurrent aphthous stomatitis, Leukocytosis, Skin rash, Splenomegaly, Sensorineural hearing impai...	OMIM:611762
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Recurrent otitis media, Lymphopenia, Pancytopenia, Hepatosplenomegaly, Oral ulcer, Erythema nodos...	OMIM:615688
Cortisone Reductase Deficiency 1	Alopecia, Hirsutism, Oligomenorrhea, Infertility, Acne	OMIM:604931
Keutel Syndrome	Short distal phalanx of finger, Alopecia, Hearing impairment, Recurrent otitis media, Recurrent s...	ORPHA:85202
Leukoencephalopathy With Vanishing White Matter 1	Spasticity, Blindness, Lethargy, Primary amenorrhea, Premature ovarian insufficiency, Secondary a...	OMIM:603896
Fgfr2-Related Bent Bone Dysplasia	Low-set ears, Abnormality of the outer ear, Natal tooth, Extramedullary hematopoiesis, Megalocorn...	ORPHA:313855
Cleft Palate, Isolated	Micrognathia, Anterior open-bite malocclusion, Gingival overgrowth, Increased overbite, Cleft palate	OMIM:119540
Susac Syndrome	Diplopia, Somatic sensory dysfunction, Vertigo, Gait ataxia, Visual loss, Nausea and vomiting, Se...	ORPHA:838
Febrile Infection-Related Epilepsy Syndrome	Lethargy, Sinusitis	ORPHA:163703
Combined Immunodeficiency Due To Crac Channel Dysfunction	Pneumonia, Recurrent mycobacterial infections, Recurrent viral infections, Sepsis, Hypoplasia of ...	ORPHA:169090
Hyperphenylalaninemia, Bh4-Deficient, B	Tremor, Rigidity, Hyperkinetic movements, Lethargy, Limb hypertonia, Dystonia, Dysphagia, Choreoa...	OMIM:233910
Autoerythrocyte Sensitization Syndrome	Impaired platelet adhesion, Gastrointestinal hemorrhage, Epistaxis, Depression, Bruising suscepti...	ORPHA:324636
Autosomal Recessive Malignant Osteopetrosis	Delayed eruption of teeth, Hearing impairment, Bruising susceptibility, Premature loss of primary...	ORPHA:667
Acute Promyelocytic Leukemia	Gingival bleeding, Pancytopenia, Chronic infection, Metrorrhagia, Neutropenia, Anorexia, Abdomina...	ORPHA:520
Autosomal Recessive Polycystic Kidney Disease	Low-set ears, Elevated gamma-glutamyltransferase level, Cholestasis, Hepatosplenomegaly, Microgna...	ORPHA:731
Primary Condylar Hyperplasia	Abnormal mandible condylar process morphology, Macrodontia, Anterior open-bite malocclusion, Abno...	ORPHA:477781
Atkin-Flaitz Syndrome	Abnormality of the dentition, Everted lower lip vermilion, Thick vermilion border, Maxillary late...	ORPHA:1193
Congenital Toxoplasmosis	Elevated circulating hepatic transaminase concentration, Diarrhea, Hearing impairment, Hepatomega...	ORPHA:858
Pfapa Syndrome	Malabsorption, Nausea and vomiting, Splenomegaly, Infectious encephalitis, Abnormal oral cavity m...	ORPHA:42642
Hemophilia A	Gastrointestinal hemorrhage, Spontaneous hematomas, Intracranial hemorrhage, Intraventricular hem...	ORPHA:98878
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Diarrhea, Vomiting, Malnutrition, Stomach c...	ORPHA:2494
Neuropathy, Ataxia, And Retinitis Pigmentosa	Blindness, Ataxia	OMIM:551500
Al Amyloidosis	Xerostomia, Postural hypotension with compensatory tachycardia, Elevated circulating alkaline pho...	ORPHA:85443
Cerebellar Ataxia, Impaired Intellectual Development, And Dysequilibrium Syndrome 2	Small hand, Gait ataxia, Intention tremor, Dysmetria, Sensorineural hearing impairment, Hirsutism...	OMIM:610185
Mosaic Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Mi...	ORPHA:99228
Monosomy X	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Mi...	ORPHA:99226
Turner Syndrome	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Mi...	ORPHA:881
Turner Syndrome Due To Structural X Chromosome Anomalies	Low-set ears, Inflammation of the large intestine, Hearing impairment, Recurrent otitis media, Mi...	ORPHA:99413
Microphthalmia, Syndromic 2	Aortic valve stenosis, Hand clenching, Spastic paraparesis, Cryptorchidism, Laterally curved eyeb...	OMIM:300166
Developmental Delay With Variable Neurologic And Brain Abnormalities	Cataract, Astigmatism, Microphthalmia	OMIM:619694
Tay-Sachs Disease	Hearing impairment, Cherry red spot of the macula, Aspiration pneumonia, Incoordination, Visual i...	ORPHA:845
Tsh-Secreting Pituitary Adenoma	Periodic hypokalemic paresis, Increased circulating prolactin concentration, Nausea and vomiting,...	ORPHA:91347
Felty Syndrome	Synovitis, Neutropenia, Recurrent pharyngitis, Hepatomegaly, Chronic otitis media, Abnormal lymph...	ORPHA:47612
Methylcobalamin Deficiency Type Cble	Vomiting, Increased mean corpuscular volume, Hearing impairment, Clinodactyly, Lower limb hyperto...	ORPHA:2169
Intellectual Developmental Disorder, Autosomal Recessive 68	Wide nasal bridge, Microcephaly, Hypoplasia of the maxilla, Periventricular leukomalacia	OMIM:618302
Short-Rib Thoracic Dysplasia 12	Low-set ears, Natal tooth, Neonatal death, Epicanthus, Hepatomegaly, Short foot, Patent ductus ar...	OMIM:269860
Hsd10 Disease, Infantile Type	Poor coordination, Hearing impairment, Hypertrophic cardiomyopathy, Blindness, Visual loss, Cyano...	ORPHA:391428
Renal Tubular Acidosis, Proximal	Rickets, Osteomalacia	OMIM:179830
Intellectual Developmental Disorder With Speech Delay, Autism, And Dysmorphic Facies	Plagiocephaly, Prominent occiput, Hypoplasia of the corpus callosum, Deeply set eye, Hypotelorism...	OMIM:618672
Pseudopelade Of Brocq	Alopecia, Abnormal hair morphology, Recurrent skin infections, Aplasia/Hypoplasia of the eyebrow,...	ORPHA:129
Coffin-Siris Syndrome 1	Low-set ears, Facial hypertrichosis, Dry hair, Hearing impairment, Hypoplastic fifth fingernail, ...	OMIM:135900
8Q24.3 Microdeletion Syndrome	Ectopic posterior pituitary, Branchial cyst, Epicanthus, Reduced visual acuity, Short hallux, Fee...	ORPHA:508488
Neurodevelopmental Disorder With Microcephaly, Hypotonia, And Variable Brain Anomalies	Cerebral cortical atrophy, Plagiocephaly, Proptosis, Cerebellar atrophy, Hypoplasia of the corpus...	OMIM:617481
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:352665
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	Exaggerated median tongue furrow, Intestinal pseudo-obstruction, Supernumerary nipple, Open bite,...	ORPHA:453504
Peters-Plus Syndrome	Low-set ears, Facial hypertrichosis, Hearing impairment, Micrognathia, Short lingual frenulum, Cr...	OMIM:261540
Lujan-Fryns Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Dental crowding, Aplasia/Hypoplasia of t...	ORPHA:776
Pyle Disease	Carious teeth, Delayed eruption of teeth, Absent paranasal sinuses, Persistence of primary teeth,...	OMIM:265900
Lethal Acantholytic Erosive Disorder	Hypovolemic shock, Abnormal helix morphology, Natal tooth, Congenital alopecia totalis, Absent ha...	ORPHA:158687
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 8	Microphthalmia	OMIM:614830
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Depressed nasal ridge, Hypoplasia of the maxilla, Aplasia/Hypoplasia invo...	ORPHA:1529
Hypomandibular Faciocranial Dysostosis	Hypoplasia of the maxilla, Pursed lips, Aglossia, Micrognathia, Malar flattening, Choanal stenosis	OMIM:241310
Cortical Dysplasia, Complex, With Other Brain Malformations 13	Cerebellar vermis hypoplasia, Plagiocephaly, Focal cortical dysplasia, Hypoplasia of the corpus c...	OMIM:614563
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Alopecia, Sepsis, Palmoplantar keratoderma, Smooth tongue, Decreased circulating antibody level, ...	ORPHA:79396
Smith-Lemli-Opitz Syndrome	Postaxial foot polydactyly, Finger syndactyly, Micrognathia, Cryptorchidism, Sensorineural hearin...	ORPHA:818
Craniofacial Dysplasia-Short Stature-Ectodermal Anomalies-Intellectual Disability Syndrome	Cerebellar vermis hypoplasia, Trigonocephaly, Scaphocephaly, Agenesis of corpus callosum, Attenti...	ORPHA:459061
Global Developmental Delay With Or Without Impaired Intellectual Development	Plagiocephaly, Frontal bossing, Lateral ventricle dilatation, Hypotelorism	OMIM:618330
Immunodeficiency 76	Recurrent pneumonia, Lymphopenia, Splenomegaly, Recurrent bronchiolitis, Chronic diarrhea, Lympha...	OMIM:619164
Cat-Eye Syndrome	Iris coloboma, Microphthalmia	ORPHA:195
Keratoendotheliitis Fugax Hereditaria	Keratitis, Blurred vision, Conjunctival hyperemia, Photophobia, Opacification of the corneal stroma	OMIM:148200
Immunodeficiency With Hyper-Igm, Type 2	Decreased circulating IgG level, Decreased circulating IgA level, Complete or near-complete absen...	OMIM:605258
Ellis Van Creveld Syndrome	Acute leukemia, Synostosis of carpal bones, Abnormal hair morphology, Genu valgum, Cryptorchidism...	ORPHA:289
Congenital Cataracts-Facial Dysmorphism-Neuropathy Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:48431
Idiopathic Congenital Hypothyroidism	Lethargy, Constipation, Feeding difficulties in infancy, Delayed proximal femoral epiphyseal ossi...	ORPHA:95717
Sorsby Fundus Dystrophy	Blindness	OMIM:136900
Juvenile Dermatomyositis	Vasculitis, Alopecia, Gastrointestinal hemorrhage, Cardiomyopathy, Bundle branch block, Skin rash...	ORPHA:93672
Insulinoma	Abnormality of vision, Pituitary prolactin cell adenoma, Palpitations, Hearing abnormality, Pares...	ORPHA:97279
Joubert Syndrome With Oculorenal Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Blindness, Aganglionic megacolon, Hand ...	ORPHA:2318
Apert Syndrome	Acne, Broad thumb, Synostosis of carpal bones, Hearing impairment, Finger syndactyly, Cutaneous f...	OMIM:101200
Dihydropyrimidine Dehydrogenase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Palpebral thickening, Short nail, Microcornea, Del...	ORPHA:1675
Congenital Factor V Deficiency	Gingival bleeding, Hematochezia, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding follo...	ORPHA:326
Split-Hand/Foot Malformation 3	Hypoplasia of the maxilla, Microretrognathia, Narrow mouth, High palate, Cleft palate	OMIM:246560
Leber Congenital Amaurosis 4	Keratoconus, Attenuation of retinal blood vessels, Blindness, Reduced visual acuity, Nyctalopia	OMIM:604393
Caroli Syndrome	Hypersplenism, Congenital hepatic fibrosis, Elevated circulating alkaline phosphatase concentrati...	ORPHA:480520
Granulomatous Disease, Chronic, Autosomal Recessive, 5	Recurrent pneumonia, Recurrent tonsillitis, Lymphadenitis, Eczematoid dermatitis, Granuloma, Anal...	OMIM:618935
Reticuloendotheliosis, X-Linked	Anemia, Jaundice, Hepatosplenomegaly, Lymphadenopathy	OMIM:312500
Autosomal Recessive Cutis Laxa Type 2A	Cerebellar vermis hypoplasia, Secondary microcephaly, Cerebellar malformation, Dilated fourth ven...	ORPHA:357058
Retinal Dystrophy, Iris Coloboma, And Comedogenic Acne Syndrome	Microcornea, Comedonal acne, Reduced visual acuity, Nyctalopia, Tritanomaly, Visual impairment, I...	OMIM:615147
Kdm5C-Related Syndromic X-Linked Intellectual Disability	Hypoplasia of the maxilla, Prominent nasal bridge, Microcephaly, Macrocephaly, High palate	ORPHA:85279
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Palmoplan...	ORPHA:659
Hypothyroidism, Congenital, Nongoitrous, 7	Lethargy	OMIM:618573
Intellectual Developmental Disorder, X-Linked, Syndromic, Wu Type	Brachycephaly, Frontal cortical atrophy, Deeply set eye	OMIM:300699
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 11	Cataract, Optic nerve hypoplasia, Microphthalmia	OMIM:615181
Sting-Associated Vasculopathy, Infantile-Onset	Pustular rash, Lymphopenia, Follicular hyperplasia, Pustule, Telangiectasia, Increased circulatin...	OMIM:615934
Eosinophilic Gastroenteritis	Protein-losing enteropathy, Hematochezia, Diarrhea, Vomiting, Abnormality of the gastrointestinal...	ORPHA:2070
Klippel-Trénaunay Syndrome	Gastrointestinal hemorrhage, Pulmonary embolism, Prolonged bleeding time, Congestive heart failur...	ORPHA:90308
Holoprosencephaly 1	Tessier cleft, Proboscis, Median cleft palate, Agenesis of corpus callosum, Cerebellar hypoplasia...	OMIM:236100
Ritscher-Schinzel Syndrome 4	Plagiocephaly, Proptosis, Chorea, Hypotelorism, Agenesis of corpus callosum, Deeply set eye, Cere...	OMIM:619435
Branchiootic Syndrome 1	Branchial fistula	OMIM:602588
Cornelia De Lange Syndrome	Small hand, Toe syndactyly, Atresia of the external auditory canal, Elbow dislocation, Micrognath...	ORPHA:199
Leber Congenital Amaurosis 12	Congenital blindness	OMIM:610612
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 3	Cerebellar vermis hypoplasia, Cerebral atrophy, Small basal ganglia, Abnormal periventricular whi...	OMIM:616900
Hepatic Veno-Occlusive Disease-Immunodeficiency Syndrome	Decreased proportion of memory B cells, Recurrent viral infections, Recurrent enteroviral infecti...	ORPHA:79124
Microphthalmia With Limb Anomalies	Anophthalmia, Short nose, Microphthalmia	OMIM:206920
Intellectual Developmental Disorder, Autosomal Dominant 48	Cerebellar vermis hypoplasia, Plagiocephaly, Dysgenesis of the cerebellar vermis, Lateral ventric...	OMIM:617751
Encephalopathy, Progressive, Early-Onset, With Brain Edema And/Or Leukoencephalopathy, 2	Cataract, Dilated cardiomyopathy, Diarrhea, Vomiting, Generalized dystonia, Pancytopenia, Chorea,...	OMIM:618321
Diastrophic Dysplasia	Joint hypermobility, Increased bone mineral density, Joint stiffness, Camptodactyly of finger	ORPHA:628
Neurodevelopmental Disorder With Microcephaly, Impaired Language, Epilepsy, And Gait Abnormalities	Low-set ears, Retrognathia, Clinodactyly, Widely spaced teeth, Large fleshy ears, Myoclonus, Upsl...	OMIM:619092
Fibrodysplasia Ossificans Progressiva	Alopecia, Conductive hearing impairment, Broad femoral neck, Short 1st metacarpal, Widely spaced ...	OMIM:135100
Hyper-Ige Syndrome 4A, Autosomal Dominant, With Recurrent Infections	Atopic dermatitis, Recurrent pneumonia, Reduced natural killer cell count, Decreased circulating ...	OMIM:619752
Systemic Lupus Erythematosus	Discoid lupus rash, Alopecia, Depression, Anorexia, Hemolytic anemia, Malar rash, Leukopenia, Cho...	ORPHA:536
Neurodevelopmental Disorder With Epilepsy And Hemochromatosis	Spasticity, Hearing impairment, Aspiration pneumonia, Ataxia, Hepatomegaly, Babinski sign, Hepati...	OMIM:301072
Venous Malformations, Multiple Cutaneous And Mucosal	Intestinal bleeding	OMIM:600195
Weill-Marchesani Syndrome 2	Aortic valve stenosis, Tooth malposition, Broad phalanges of the hand, High myopia, Mitral regurg...	OMIM:608328
Central Neurocytoma	Pain insensitivity, Abnormality of vision, Depression, Paresthesia, Nausea and vomiting, Tinnitus...	ORPHA:73256
Pierpont Syndrome	Abnormal cortical gyration, Chiari malformation, Deeply set eye, Brachycephaly, Primary microceph...	ORPHA:487825
Aniridia 2	Lens subluxation, Cataract, Aniridia, Iris coloboma	OMIM:617141
Muscular Dystrophy-Dystroglycanopathy (Congenital With Impaired Intellectual Development), Type B, 1	Developmental cataract, Microphthalmia	OMIM:613155
Joubert Syndrome With Hepatic Defect	Low-set ears, Highly arched eyebrow, Ataxia, Elevated circulating hepatic transaminase concentrat...	ORPHA:1454
Fetal And Neonatal Alloimmune Thrombocytopenia	Gastrointestinal hemorrhage, Neonatal alloimmune thrombocytopenia, Abnormal bleeding, Cerebral pa...	ORPHA:853
Lead Poisoning	Imbalanced hemoglobin synthesis, Increased circulating IgE level, Oligozoospermia, Anorexia, Tubu...	ORPHA:330015
X-Linked Mandibulofacial Dysostosis	Short stature, Webbed neck, Branchial anomaly	ORPHA:1131
Infantile Krabbe Disease	Spasticity, Hearing impairment, Cherry red spot of the macula, Opisthotonus, Abnormal heart rate ...	ORPHA:206436
Niemann-Pick Disease, Type A	Spasticity, Vomiting, Athetosis, Sea-blue histiocytosis, Microcytic anemia, Cherry red spot of th...	OMIM:257200
Behr Syndrome	Visual impairment, Blindness, Dysmetria, Tremor, Chronic constipation, Babinski sign, Progressive...	OMIM:210000
Bent Bone Dysplasia Syndrome 1	Low-set ears, Natal tooth, Hepatosplenomegaly, Micrognathia, Gingival overgrowth, Malar flattenin...	OMIM:614592
X-Linked Dominant Chondrodysplasia Punctata	Low-set ears, Cataract, Sparse eyebrow, Coarse hair, Microcornea, Downslanted palpebral fissures,...	ORPHA:35173
Boutonneuse Fever	Vasculitis, Elevated circulating hepatic transaminase concentration, Diarrhea, Abnormal skin morp...	ORPHA:83313
Immunodeficiency 105	Decreased circulating IgG level, Reduced natural killer cell count, Absence of lymph node germina...	OMIM:619924
Pyruvate Dehydrogenase E1-Alpha Deficiency	Recurrent infections, Recurrent aspiration pneumonia, Gastroesophageal reflux, Blindness, Single ...	ORPHA:79243
Microphthalmia, Syndromic 8	Microcornea, Microphthalmia	OMIM:601349
Simple Cryoglobulinemia	Chronic lymphatic leukemia, Abdominal pain, Purpura, Vasculitis, Gastrointestinal hemorrhage, Spo...	ORPHA:91139
Poirier-Bienvenu Neurodevelopmental Syndrome	Downturned corners of mouth, Open mouth, Protruding tongue, Smooth philtrum, Mandibular prognathia	OMIM:618732
Primary Hypergonadotropic Hypogonadism-Partial Alopecia Syndrome	Hearing impairment, Non-obstructive azoospermia, Streak ovary, Cryptorchidism, Aplasia of the ova...	ORPHA:2232
Spinocerebellar Ataxia, Autosomal Recessive 21	Hepatic bridging fibrosis, Hepatic fibrosis, Spasticity, Hepatic failure, Impaired pain sensation...	OMIM:616719
Mitochondrial Complex I Deficiency, Nuclear Type 6	Vomiting, Hypertrophic cardiomyopathy, Lethargy, Abnormal pyramidal sign, Ataxia	OMIM:618228
Hydrolethalus	Anophthalmia, Microphthalmia	ORPHA:2189
8P Inverted Duplication/Deletion Syndrome	High, narrow palate, Small hypothenar eminence, Frontal balding, Retrognathia, Long philtrum, Pro...	ORPHA:96092
Familial Adenomatous Polyposis Due To 5Q22.2 Microdeletion	Posterior polar cataract, Abnormality of canine, Mandibular prognathia, Intestinal bleeding, Long...	ORPHA:261584
Netherton Syndrome	Allergic rhinitis, Decreased circulating IgG level, Brittle scalp hair, Sparse eyebrow, Sepsis, E...	OMIM:256500
Spondyloepiphyseal Dysplasia Tarda	Hip osteoarthritis, Limitation of joint mobility, Osteoarthritis of the distal interphalangeal jo...	ORPHA:93284
Osteogenesis Imperfecta, Type Xiii	Recurrent fractures, Joint hypermobility, Limitation of knee mobility, Osteoporosis, Reduced bone...	OMIM:614856
Noonan Syndrome 1	Low-set ears, Hearing impairment, Clinodactyly, Micrognathia, Cryptorchidism, Sensorineural heari...	OMIM:163950
Deficiency In Anterior Pituitary Function-Variable Immunodeficiency Syndrome	Recurrent viral infections, Recurrent otitis media, Alopecia totalis, Psoriasiform dermatitis, Re...	ORPHA:293978
Stickler Syndrome	Hearing impairment, Open bite, Micrognathia, Genu valgum, Sensorineural hearing impairment, Arach...	ORPHA:828
Lethal Infantile Mitochondrial Myopathy	Lethargy, Cardiomyopathy, Fatal liver failure in infancy	ORPHA:254857
Intellectual Developmental Disorder, Autosomal Dominant 54	Ataxia, Gastroesophageal reflux, Dental crowding, Eczematoid dermatitis, Visual impairment, Widel...	OMIM:617799
Retinitis Pigmentosa With Or Without Skeletal Anomalies	Low-set ears, Short distal phalanx of finger, Sparse eyebrow, High anterior hairline, Small nail,...	OMIM:250410
Spondyloenchondrodysplasia	Spasticity, Pancytopenia, Metaphyseal dysplasia, Autoimmune thrombocytopenia, Vasculitis, Granulo...	ORPHA:1855
Desanto-Shinawi Syndrome	Hypoplasia of the corpus callosum, Deeply set eye, Brachycephaly, Attention deficit hyperactivity...	OMIM:616708
Immunodeficiency With Hyper-Igm, Type 4	Recurrent upper respiratory tract infections, Absence of lymph node germinal center, Osteomyeliti...	OMIM:608184
Apert Syndrome	Toe syndactyly, Broad thumb, Finger syndactyly, Sensorineural hearing impairment, Aplasia/Hypopla...	ORPHA:87
Leukodystrophy, Hypomyelinating, 8, With Or Without Oligodontia And/Or Hypogonadotropic Hypogonadism	Spasticity, Natal tooth, Delayed eruption of teeth, High myopia, Gait ataxia, Intention tremor, D...	OMIM:614381
Congenital Muscular Dystrophy With Intellectual Disability And Severe Epilepsy	Elevated circulating hepatic transaminase concentration, Dental malocclusion, Recurrent respirato...	ORPHA:329178
Intellectual Developmental Disorder, X-Linked, Syndromic 14	Hypoplasia of the maxilla, Prominent nasal bridge, Macrocephaly, High palate, Mandibular prognathia	OMIM:300676
Retinitis Pigmentosa 89	Hepatic fibrosis, Micronodular cirrhosis, Constriction of peripheral visual field, Hepatosplenome...	OMIM:618955
Immune Dysregulation With Autoimmunity, Immunodeficiency, And Lymphoproliferation	Diarrhea, Lymphopenia, Psoriasiform dermatitis, Hepatomegaly, Recurrent lower respiratory tract i...	OMIM:616100
Agnathia-Otocephaly Complex	Microglossia, Aglossia, Micrognathia, Narrow mouth, Agenesis of corpus callosum, Mandibular aplas...	OMIM:202650
Autosomal Semi-Dominant Severe Lipodystrophic Laminopathy	Abnormal atrioventricular conduction, Secondary amenorrhea, Premature graying of hair, Hypertroph...	ORPHA:280365
Exfoliation Syndrome	Cataract, Mydriasis, Pseudoexfoliation, Abnormal lens morphology, Phakodonesis, Pigment depositio...	OMIM:177650
Leukocyte Adhesion Deficiency, Type Iii	Epistaxis, Sepsis, Abnormal bleeding, Extramedullary hematopoiesis, Abnormal lymph node morpholog...	OMIM:612840
Immunodeficiency 31C	Diarrhea, Lymphopenia, Hepatomegaly, Gastrointestinal eosinophilia, Eczematoid dermatitis, Osteom...	OMIM:614162
Pierpont Syndrome	Microcornea, Short nose, Microphthalmia	OMIM:602342
Epidermolysis Bullosa Simplex 5D, Generalized Intermediate, Autosomal Recessive	Alopecia, Nail dystrophy	OMIM:616487
Craniofacial Dyssynostosis With Short Stature	Brachyturricephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Chiari type I...	OMIM:218350
Juvenile Polyposis Syndrome	Low-set ears, Abnormal onset of bleeding, Diarrhea, Colon cancer, Stomach cancer, Narrow mouth, J...	ORPHA:2929
Norrie Disease	Cataract, Hypoplasia of the iris, Opacification of the corneal stroma, Leukocoria, Corneal opacit...	OMIM:310600
Huntington Disease-Like 1	Involuntary movements, Depression, Abnormal posturing, Incoordination, Chorea, Gait ataxia, Simul...	ORPHA:157941
Severe Hemophilia A	Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcision, Subdural hemor...	ORPHA:169802
Meningococcal Meningitis	Hypotension, Sepsis, Hearing impairment, Shock, Paresthesia, Skin rash, Petechiae, Infectious enc...	ORPHA:33475
Riboflavin Transporter Deficiency	Iris hypopigmentation, Color vision defect, Progressive hearing impairment, Hypogonadism, Myoclon...	ORPHA:97229
Neuropathy, Hereditary Sensory And Autonomic, Type Ix, With Developmental Delay	Cerebral atrophy, Gait ataxia, Hypoplasia of the corpus callosum, Dysmetria, Microcephaly, Brachy...	OMIM:615031
Adult Syndrome	Abnormality of the dentition, Alopecia, Toenail dysplasia, Absent nipple, Toe syndactyly, Fine ha...	ORPHA:978
Farber Disease	Spasticity, Cherry red spot of the macula, Hepatosplenomegaly, Paraparesis, Abnormality of the el...	ORPHA:333
Macrocephaly, Neurodevelopmental Delay, Lymphoid Hyperplasia, And Persistent Fetal Hemoglobin	Recurrent pneumonia, Gastroesophageal reflux, Dental crowding, Recurrent upper respiratory tract ...	OMIM:619769
Persistent Hyperplastic Primary Vitreous, Autosomal Recessive	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Persistent pupillary membrane...	OMIM:221900
Lissencephaly 8	Cataract, Microphthalmia	OMIM:617255
Amelo-Onycho-Hypohidrotic Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Fine hair, Tooth agenesis, Ab...	ORPHA:1028
Dysosteosclerosis	Craniofacial hyperostosis, Coarse metaphyseal trabecularization, Recurrent fractures, Increased b...	ORPHA:1782
Transketolase Deficiency	Cataract, Secondary amenorrhea, Hearing impairment, Seborrheic dermatitis, Hepatomegaly, Conjunct...	ORPHA:488618
Bardet-Biedl Syndrome 4	Abnormality of the dentition, Hypogonadism, Cryptorchidism, Polydactyly, Brachydactyly, Nyctalopi...	OMIM:615982
Ramos-Arroyo Syndrome	High anterior hairline, Carious teeth, Keratitis, Smooth tongue, Long philtrum, Xerostomia, Narro...	ORPHA:1051
Ophthalmomandibulomelic Dysplasia	Radioulnar dislocation, Radial bowing, Elbow dislocation, Megalocornea, Temporomandibular joint a...	OMIM:164900
Dentinogenesis Imperfecta	Abnormal dental pulp morphology, Yellow-brown discoloration of the teeth, Hearing impairment, Gen...	ORPHA:49042
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Bifid nasal tip, Polymicrogyria, Ankyloglossia, Malar flattening, Bilateral cleft palate, Thin up...	OMIM:618874
Multiple Mitochondrial Dysfunctions Syndrome 2 With Hyperglycinemia	Spasticity, Dilated cardiomyopathy, Vomiting, Hypertrophic cardiomyopathy, Myoclonus, Abnormality...	OMIM:614299
Spondyloepiphyseal Dysplasia-Craniosynostosis-Cleft Palate-Cataracts-Intellectual Disability Syndrome	Increased bone mineral density, Delayed patellar ossification, Abnormal bone ossification	ORPHA:163649
Lipoid Proteinosis	Abnormal oral mucosa morphology, Nasal polyposis, Microglossia, Thick lower lip vermilion, Cerebr...	ORPHA:530
Traboulsi Syndrome	High myopia, Arachnodactyly, Reduced visual acuity, High palate, Visual impairment, Cataract, Dow...	OMIM:601552
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome	Recurrent pneumonia, Abnormal CD4:CD8 ratio, Diarrhea, Recurrent aphthous stomatitis, Splenomegal...	OMIM:150550
Congenital Disorder Of Glycosylation, Type Ih	Low-set ears, Protein-losing enteropathy, Diarrhea, Vomiting, Long philtrum, Decreased liver func...	OMIM:608104
Neurodevelopmental Disorder With Dysmorphic Facies And Cerebellar Hypoplasia	Cerebellar vermis hypoplasia, Secondary microcephaly, Fusion of the left and right thalami, Dilat...	OMIM:619306
Retinitis Pigmentosa 59	Spasticity, Elevated circulating hepatic transaminase concentration, Constriction of peripheral v...	OMIM:613861
Ichthyosis With Alopecia, Eclabium, Ectropion, And Impaired Intellectual Development	Ectropion, Alopecia, Everted lower lip vermilion	OMIM:242510
Faciocardiomelic Dysplasia, Lethal	Microglossia, Retrognathia, Micrognathia, Narrow mouth, Neonatal death	OMIM:227270
Alg6-Cdg	Low-set ears, Protein-losing enteropathy, Abnormality of the liver, Abnormal circulating enzyme c...	ORPHA:79320
Manitoba Oculotrichoanal Syndrome	Corneopalpebral synechiae, Anophthalmia, Microphthalmia	OMIM:248450
Trichothiodystrophy 6, Nonphotosensitive	Coronal craniosynostosis, Increased bone mineral density	OMIM:616943
Metaphyseal Dysplasia, Braun-Tinschert Type	Osteopenia, Coarse metaphyseal trabecularization, Sclerosis of middle finger phalanx, Sclerosis o...	ORPHA:85188
Elsahy-Waters Syndrome	Low-set ears, Megalocornea, Shortening of all phalanges of fingers, Cutaneous finger syndactyly, ...	OMIM:211380
Oculotrichoanal Syndrome	Anophthalmia, Microphthalmia	ORPHA:2717
Branchiogenic Deafness Syndrome	Short stature, Branchial fistula, Branchial cyst	ORPHA:50815
Trigonocephaly 1	High, narrow palate, Meckel diverticulum, Long philtrum, Upslanted palpebral fissure, Epicanthus,...	OMIM:190440
Solitary Median Maxillary Central Incisor	Anophthalmia, Microphthalmia	OMIM:147250
3Mc Syndrome 3	Tessier cleft, Cleft upper lip, Cleft palate	OMIM:248340
Tyrosinemia Type 1	Rickets of the lower limbs	ORPHA:882
Non-Insulinoma Pancreatogenous Hypoglycemia Syndrome	Tachycardia, Lethargy, Hyperhidrosis, Tremor	ORPHA:276608
Raine Syndrome	Choanal atresia, Depressed nasal bridge, Mandibular prognathia, Natal tooth, Micrognathia, Cerebr...	OMIM:259775
Kleefstra Syndrome Due To A Point Mutation	Recurrent infections, Abnormality of the dentition, Gastroesophageal reflux, Natal tooth, Hearing...	ORPHA:261652
Williams Syndrome	Spasticity, Carious teeth, Megalocornea, Open bite, Micrognathia, Genu valgum, Cryptorchidism, Mi...	ORPHA:904
Nance-Horan Syndrome	Cataract, Microcornea, Microphthalmia	ORPHA:627
Renal Tubular Acidosis Iii	Rickets, Osteomalacia	OMIM:267200
Hardikar Syndrome	Portal inflammation, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Hypersplenism, Bilateral...	OMIM:301068
Neurodevelopmental Disorder With Severe Motor Impairment, Absent Language, Cerebral Hypomyelination, And Brain Atrophy	Brachycephaly, Short corpus callosum, Lateral ventricle dilatation	OMIM:619972
Burning Mouth Syndrome	Tongue pain, Strawberry tongue, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Folliculitis, Natal tooth, Oral leukoplakia, ...	OMIM:167210
Bardet-Biedl Syndrome 21	Abnormality of the dentition, Elevated circulating hepatic transaminase concentration, Constricti...	OMIM:617406
Neurodevelopmental Disorder With Dysmorphic Facies And Variable Seizures	Diminished ability to concentrate, Plagiocephaly, Frontal bossing	OMIM:619264
Orofaciodigital Syndrome Iv	Lobulated tongue, Cerebral atrophy, Hamartoma of tongue, Micrognathia, High palate, Porencephalic...	OMIM:258860
Monosomy 22Q13.3	Hearing impairment, Nausea and vomiting, Epicanthus, Hypermetropia, Large hands, Recurrent skin i...	ORPHA:48652
Acrodysostosis 1 With Or Without Hormone Resistance	Hearing impairment, Long hallux, Cryptorchidism, Decreased growth hormone responses to growth hor...	OMIM:101800
Mpi-Cdg	Hepatic fibrosis, Gastrointestinal hemorrhage, Protein-losing enteropathy, Vomiting, Diarrhea, De...	ORPHA:79319
Short-Rib Thoracic Dysplasia 10 With Or Without Polydactyly	Hepatic fibrosis, Hepatic failure, Cholestasis, Genu valgum, Splenomegaly, Orofacial cleft, Oculo...	OMIM:615630
Familial Hemophagocytic Lymphohistiocytosis	Hemophagocytosis, Sensorineural hearing impairment, Erythroderma, Neutropenia, Reduced natural ki...	ORPHA:540
Angelman Syndrome	Keratoconus, Protruding tongue, Hypermetropia, Ataxia, Dysphagia, Gastroesophageal reflux, Gastro...	ORPHA:72
Epidermolysis Bullosa Simplex With Muscular Dystrophy	Alopecia, Hypoplastic fingernail, Abnormal dental enamel morphology, Hyperconvex fingernails, Ptosis	ORPHA:257
Moderate Hemophilia A	Gingival bleeding, Gastrointestinal hemorrhage, Abnormal bleeding, Subdural hemorrhage, Spontaneo...	ORPHA:169805
X-Linked Intellectual Disability-Plagiocephaly Syndrome	Plagiocephaly, Diffuse cerebral atrophy, Microcephaly, Brachycephaly, Flat occiput	ORPHA:2898
Cortical Dysplasia, Complex, With Other Brain Malformations 6	Microphthalmia	OMIM:615771
Shprintzen-Goldberg Craniosynostosis Syndrome	Low-set ears, Joint contracture of the hand, Micrognathia, Genu valgum, Cryptorchidism, Arachnoda...	OMIM:182212
Andersen-Tawil Syndrome	Low-set ears, Small hand, Periodic hypokalemic paresis, Polymorphic and polytopic ventricular ext...	ORPHA:37553
Familial Thyroid Dyshormonogenesis	Goiter, Sensorineural hearing impairment, Lethargy, Feeding difficulties in infancy, Constipation...	ORPHA:95716
Crigler-Najjar Syndrome	Hearing impairment, Vertigo, Abnormality of the liver, Infectious encephalitis, Lethargy, Jaundice	ORPHA:205
Osteoporosis-Macrocephaly-Blindness-Joint Hyperlaxity Syndrome	Short distal phalanx of finger, Blindness, Brachydactyly	ORPHA:2787
Cornelia De Lange Syndrome 6	Low-set ears, Highly arched eyebrow, Sparse eyebrow, Cleft lip, Macrodontia of permanent maxillar...	OMIM:620568
Fryns Syndrome	Low-set ears, Abnormal helix morphology, Joint contracture of the hand, Small nail, Cryptorchidis...	OMIM:229850
Distal Limb Deficiencies-Micrognathia Syndrome	Hypoplasia of the maxilla, Microglossia, Microretrognathia, Prominent nasal bridge, Narrow mouth,...	ORPHA:1307
Mungan Syndrome	Barrett esophagus, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Hypoperistalsis	OMIM:611376
Non-Eruption Of Teeth-Maxillary Hypoplasia-Genu Valgum Syndrome	Delayed eruption of teeth, Low-set, posteriorly rotated ears, Abnormal dental morphology, Genu va...	ORPHA:2972
Microphthalmia With Linear Skin Defects Syndrome	Hearing impairment, Abnormal earlobe morphology, Micrognathia, Mitral regurgitation, Abnormal nas...	ORPHA:2556
Mandibuloacral Dysplasia With Type A Lipodystrophy	Abnormality of the dentition, Alopecia, Cataract, Short distal phalanx of finger, Hearing impairm...	ORPHA:90153
Autoinflammation With Infantile Enterocolitis	Reduced natural killer cell count, Diffuse alveolar hemorrhage, Secretory diarrhea, Reduced natur...	OMIM:616050
Retinitis Pigmentosa 80	Blindness, Attenuation of retinal blood vessels, Progressive visual loss, Nyctalopia, Cone-shaped...	OMIM:617781
17Q23.1Q23.2 Microdeletion Syndrome	Highly arched eyebrow, Blepharitis, Gastroesophageal reflux, Hearing impairment, Sandal gap, Wide...	ORPHA:261279
Scalp-Ear-Nipple Syndrome	Low-set ears, Broad thumb, Finger syndactyly, Underdeveloped tragus, Epicanthus, Blepharophimosis...	OMIM:181270
Bleeding Disorder, Platelet-Type, 21	Alopecia, Recurrent viral infections, Abnormal bleeding, Eczematoid dermatitis, Psoriasiform derm...	OMIM:617443
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Bruising susceptibility, Metamorphopsia,...	ORPHA:758
Immunodeficiency 63 With Lymphoproliferation And Autoimmunity	Persistent CMV viremia, Diarrhea, Recurrent urinary tract infections, Recurrent otitis media, Dec...	OMIM:618495
Desmoid Tumor	Gastrointestinal hemorrhage, Sepsis, Malabsorption, Intestinal polyposis, Intestinal obstruction,...	ORPHA:873
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Tessier cleft, Depressed nasal bridge, Long philtrum, Cleft upper lip, Micrognathia, Agenesis of ...	ORPHA:93271
Intellectual Developmental Disorder, X-Linked, Syndromic 33	Low-set ears, Spasticity, Toenail dysplasia, Hearing impairment, Oral-pharyngeal dysphagia, Talip...	OMIM:300966
Severe X-Linked Intellectual Disability, Gustavson Type	Spasticity, Recurrent upper respiratory tract infections, Nasogastric tube feeding, Micrognathia,...	ORPHA:3078
Polymyositis	Vasculitis, Gastrointestinal hemorrhage, Gastroesophageal reflux, Abnormal atrioventricular condu...	ORPHA:732
Agenesis Of Corpus Callosum, Cardiac, Ocular, And Genital Syndrome	Periventricular heterotopia, Agenesis of corpus callosum, Deeply set eye, Attention deficit hyper...	OMIM:618929
Ectodermal Dysplasia/Short Stature Syndrome	Palmoplantar keratoderma, Delayed eruption of teeth, Nail dystrophy, Sensorineural hearing impair...	OMIM:616029
X-Linked Intellectual Disability, Cabezas Type	Small hand, Toe syndactyly, Abnormal earlobe morphology, Open bite, Epicanthus, Blepharophimosis,...	ORPHA:85293
Cinca Syndrome	Progressive sensorineural hearing impairment, Hearing impairment, Hepatosplenomegaly, Leukocytosi...	OMIM:607115
Nestor-Guillermo Progeria Syndrome	Alopecia, Sparse eyebrow, Dental malocclusion, Microretrognathia, Dental crowding, Sinus tachycar...	OMIM:614008
Joubert Syndrome 18	Retrognathia, Agenesis of corpus callosum, Agenesis of cerebellar vermis, Cleft palate, Lobulated...	OMIM:614815
Medium Chain Acyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Decreased liver func...	ORPHA:42
Keipert Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent nasal bridge, Tented upper lip vermi...	ORPHA:2662
Thrombocytopenia-Absent Radius Syndrome	Short forearm, Broad thumb, Finger syndactyly, Carpal synostosis, Fibular aplasia, Micrognathia, ...	OMIM:274000
Giant platelet syndrome with thrombocytopenia	Gastrointestinal hemorrhage, Giant platelets, Bruising susceptibility, Prolonged bleeding after d...	OMIM:137560
Coffin-Lowry Syndrome	Hearing impairment, Open mouth, Mitral regurgitation, Sensorineural hearing impairment, Everted l...	OMIM:303600
Craniotelencephalic Dysplasia	Optic nerve hypoplasia, Microphthalmia	OMIM:218670
Cerebrooculofacioskeletal Syndrome 2	Cataract, Developmental cataract, Microphthalmia	OMIM:610756
Trichohepatoenteric Syndrome 1	Low-set ears, Cholestasis, Narrow mouth, Cirrhosis, Curly hair, Brittle hair, Jaundice, Hepatomeg...	OMIM:222470
Stickler Syndrome, Type I	Abnormal femoral epiphysis morphology, Bifid uvula, Cataract, Conductive hearing impairment, Irre...	OMIM:108300
Maxillonasal Dysplasia, Binder Type	Large earlobe, Short distal phalanx of finger, Dental malocclusion	OMIM:155050
3-Hydroxy-3-Methylglutaric Aciduria	Spasticity, Diarrhea, Lipid accumulation in hepatocytes, Apathy, Ataxia, Anorexia, Hepatomegaly, ...	ORPHA:20
Dislocation Of The Hip-Dysmorphism Syndrome	Wide nasal bridge, Depressed nasal ridge, Anteverted nares, Narrow mouth, Malar flattening, Abnor...	ORPHA:2412
Bile Acid Conjugation Defect 1	Rickets	OMIM:619232
Amelogenesis Imperfecta, Type Ic	Yellow-brown discoloration of the teeth, Enamel hypomineralization, Taurodontia, Amelogenesis imp...	OMIM:204650
Agenesis Of The Corpus Callosum With Peripheral Neuropathy	Hypoplasia of the maxilla, Feeding difficulties, Tremor, Low anterior hairline, 2-3 toe syndactyl...	OMIM:218000
Intellectual Developmental Disorder, X-Linked, Syndromic 13	Spastic paraplegia, Small hand, Spastic tetraplegia, Male hypogonadism, Resting tremor, Bradykine...	OMIM:300055
Rift Valley Fever	Gingival bleeding, Retinal vasculitis, Hemiparesis, Reduced visual acuity, Paraparesis, Anorexia,...	ORPHA:319251
Quinquaud Folliculitis Decalvans	Abnormal hair morphology, Pustule, Patchy alopecia, Scarring alopecia of scalp, Recurrent skin in...	ORPHA:346
Auriculocondylar Syndrome 3	Micrognathia, Bifid uvula, Glossoptosis, Retrognathia	OMIM:615706
Migraine, Familial Hemiplegic, 3	Hemiplegia, Blindness, Photophobia, Hemiparesis	OMIM:609634
Late-Onset Isolated Acth Deficiency	Normocytic anemia, Hypotension, Sepsis, Pituitary adenoma, Hepatitis, Celiac disease, Diarrhea, V...	ORPHA:199299
Oliver Syndrome	Postaxial foot polydactyly, Dental malocclusion, Prominent fingertip pads, Short toe, Supernumera...	ORPHA:2920
Hartnup Disorder	Glossitis	OMIM:234500
Immunodeficiency With Hyper-Igm, Type 5	Decreased circulating IgG level, Decreased circulating IgA level, Impaired Ig class switch recomb...	OMIM:608106
Carpenter Syndrome 2	Low-set ears, Carious teeth, Broad thumb, Supernumerary nipple, Cutaneous finger syndactyly, Cryp...	OMIM:614976
Angel-Shaped Phalango-Epiphyseal Dysplasia	Hip osteoarthritis, Short 1st metacarpal, Delayed eruption of teeth, Hypodontia, Short middle pha...	ORPHA:63442
Weill-Marchesani Syndrome 1	Aortic valve stenosis, Tooth malposition, Hypoplasia of the maxilla, Cataract, Microspherophakia,...	OMIM:277600
Premature Aging Syndrome, Penttinen Type	Short distal phalanx of finger, Hypoplasia of the maxilla, Delayed eruption of teeth, Retrognathi...	OMIM:601812
X-Linked Intellectual Disability, Sutherland-Haan Type	Hypoplasia of the maxilla, Microcephaly, Anal atresia, Mandibular prognathia	ORPHA:93950
Robinow Syndrome, Autosomal Recessive 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Small nail, Hearing impairmen...	OMIM:268310
Microphthalmia, Lenz Type	Abnormality of the dentition, Cataract, Microcornea, Ankyloblepharon, Hearing impairment, Delayed...	ORPHA:568
Sialidosis Type 1	Ataxia, Cataract, Cherry red spot of the macula, Thick lower lip vermilion, Myoclonus, Splenomega...	ORPHA:812
Spastic Paraplegia, Intellectual Disability, Nystagmus, And Obesity	Dilated third ventricle, Plagiocephaly, Lateral ventricle dilatation, Cerebral atrophy, Deeply se...	OMIM:617296
Williams-Beuren Region Duplication Syndrome	Cerebellar vermis hypoplasia, Decreased response to growth hormone stimulation test, Hypoplasia o...	OMIM:609757
Staphylococcal Necrotizing Pneumonia	Pneumonia, Hypotension, Sepsis, Shock, Leukopenia, Leukocytosis, Lethargy, Severe infection, Acut...	ORPHA:36238
Lynch Syndrome	Nausea and vomiting, Neoplasm of the rectum, Abnormal pyramidal sign, Adenoma sebaceum, Abdominal...	ORPHA:144
Lymphoproliferative Syndrome 3	Reduced natural killer cell count, Partial absence of specific antibody response to tetanus vacci...	OMIM:618261
X-Linked Immunoneurologic Disorder	Cataract, Decreased circulating IgG2 level, Hemiplegia/hemiparesis, Hypertonia, Nyctalopia, Recur...	ORPHA:2571
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Anteverted nares, Narrow mouth, Death in infancy, ...	ORPHA:1790
Hyperekplexia-Epilepsy Syndrome	Exaggerated startle response	ORPHA:163985
Steroid-Responsive Encephalopathy Associated With Autoimmune Thyroiditis	Depression, Cerebral vasculitis, Goiter, Leukocytosis, Nausea and vomiting, Hashimoto thyroiditis...	ORPHA:83601
Trisomy 9P	Dental crowding, Downturned corners of mouth, Hypoplastic fingernail, Impacted tooth, Fingernail ...	ORPHA:236
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth, Sensorineural hearing impa...	ORPHA:2027
Rubinstein-Taybi Syndrome Due To 16P13.3 Microdeletion	Aortic valve stenosis, Carious teeth, Natal tooth, Broad thumb, Cryptorchidism, Sensorineural hea...	ORPHA:353281
Pediatric-Onset Graves Disease	Elevated circulating hepatic transaminase concentration, Keratitis, Sinus tachycardia, Diarrhea, ...	ORPHA:525731
Fanconi Anemia	Aplasia/Hypoplasia of fingers, Toe syndactyly, Hearing impairment, Finger syndactyly, Aplasia/Hyp...	ORPHA:84
Hyperammonemia Due To N-Acetylglutamate Synthase Deficiency	Diarrhea, Vomiting, Paraplegia, Cerebral ischemia, Lethargy, Reye syndrome-like episodes, Ataxia,...	ORPHA:927
Triokinase And Fmn Cyclase Deficiency Syndrome	Cataract, Microphthalmia	OMIM:618805
Immunodeficiency With Hyper-Igm, Type 3	Decreased circulating IgG level, Impaired memory B cell generation, Absence of lymph node germina...	OMIM:606843
Marie Unna Hereditary Hypotrichosis	Alopecia, Coarse hair, Sparse or absent eyelashes, Aplasia/Hypoplasia of the eyebrow, Sparse scal...	ORPHA:444
Fanconi Anemia, Complementation Group G	Microphthalmia	OMIM:614082
Refsum Disease, Classic	Cataract, Somatic sensory dysfunction, Cardiomyopathy, Congestive heart failure, Sensorineural he...	OMIM:266500
Refractory Celiac Disease	Normocytic anemia, Protein-losing enteropathy, Inflammatory abnormality of the skin, Elevated cir...	ORPHA:398063
Koolen-De Vries Syndrome Due To A Point Mutation	Hearing impairment, Recurrent otitis media, Speech apraxia, Feeding difficulties, Open mouth, Cry...	ORPHA:363965
17Q21.31 Microdeletion Syndrome	Hearing impairment, Recurrent otitis media, Speech apraxia, Feeding difficulties, Open mouth, Cry...	ORPHA:363958
12Q14 Microdeletion Syndrome	Downturned corners of mouth, Intestinal malrotation, Abnormality of the spleen, Micrognathia, Thi...	ORPHA:94063
Craniotelencephalic Dysplasia	Septo-optic dysplasia, Microphthalmia	ORPHA:1528
Visceral Myopathy 1	Microcolon, Vomiting, Diarrhea, Intestinal pseudo-obstruction, Gastroparesis, Megaduodenum, Thinn...	OMIM:155310
Hutchinson-Gilford Progeria Syndrome	Aortic valve stenosis, Prominent ear helix, Alopecia totalis, Ankyloglossia, Micrognathia, Short ...	ORPHA:740
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 4	Low-set ears, Hearing impairment, Everted upper lip vermilion, Supernumerary nipple, Micrognathia...	OMIM:619951
Congenital Lactic Acidosis, Saguenay-Lac-Saint-Jean Type	Chorea, Focal T2 hyperintense basal ganglia lesion, Brachycephaly, Ataxia, Progressive neurologic...	ORPHA:70472
Focal Dermal Hypoplasia	Low-set ears, Toe syndactyly, Supernumerary nipple, Absent toenail, Cryptorchidism, Telangiectasi...	OMIM:305600
Developmental Malformations-Deafness-Dystonia Syndrome	Cataract, Micromelia, Generalized dystonia, Blindness, Sensorineural hearing impairment, Orofacia...	ORPHA:79107
Deafness, X-Linked 7	Wide nasal bridge, Unilateral microphthalmos	OMIM:301018
Retinitis Pigmentosa 27	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Blindness, Reduced...	OMIM:613750
Mitochondrial Complex Iv Deficiency, Nuclear Type 2	Hypertrophic cardiomyopathy, Limb dystonia, Hypoplastic toenails, Lethargy, Hepatomegaly, Cardiac...	OMIM:604377
Hjv Or Hamp-Related Hemochromatosis	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Hypogonadism, Co...	ORPHA:79230
Holocarboxylase Synthetase Deficiency	Alopecia, Vomiting, Skin rash, Reduced holocarboxylase synthetase activity in cultured fibroblast...	OMIM:253270
Pearson Marrow-Pancreas Syndrome	Sideroblastic anemia, Pancytopenia, Neutropenia, Anorexia, Hepatomegaly, Villous atrophy, Malabso...	OMIM:557000
Herpes Simplex Virus Stromal Keratitis	Corneal perforation, Keratitis, Blindness, Blurred vision, Conjunctival hyperemia, Corneal stroma...	ORPHA:137599
Arthrogryposis, Distal, Type 12	Low-set ears, Absent distal interphalangeal creases, Dental crowding, Acroparesthesia, Palmar hyp...	OMIM:620545
Skeletal Dysplasia-Epilepsy-Short Stature Syndrome	Abnormality of the dentition, Short distal phalanx of finger, Dental malocclusion, Increased circ...	ORPHA:1858
Osteopathia Striata With Cranial Sclerosis	Low-set ears, Joint contracture of the hand, Natal tooth, Fibular aplasia, Micrognathia, Arachnod...	OMIM:300373
Amelogenesis Imperfecta, Hypomaturation Type, Iia6	Amelogenesis imperfecta, Enamel hypomineralization, Anterior open-bite malocclusion	OMIM:617217
Multifocal Atrial Tachycardia	Hypotension, Atrial flutter, Hypertrophic cardiomyopathy, Effort-induced polymorphic ventricular ...	ORPHA:3282
Neurodevelopmental Disorder With Spasticity, Seizures, And Brain Abnormalities	Cerebellar vermis hypoplasia, Dysplastic corpus callosum, Microcephaly, Hypertelorism, Simplified...	OMIM:620001
Barber-Say Syndrome	Hearing impairment, Atresia of the external auditory canal, Delayed eruption of teeth, Breast apl...	ORPHA:1231
Biemond Syndrome Type 2	Microphthalmia	ORPHA:141333
Inflammatory Skin And Bowel Disease, Neonatal, 1	Villous atrophy, Duodenitis, Bloody diarrhea	OMIM:614328
Lambert-Eaton Myasthenic Syndrome	Xerostomia, Orthostatic hypotension due to autonomic dysfunction, Keratoconjunctivitis sicca, Hyp...	ORPHA:43393
Cardiomyopathy, Dilated, With Woolly Hair And Keratoderma	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Dilated cardiomyopathy, Tooth agenesis, Conge...	OMIM:605676
6Q25 Microdeletion Syndrome	Microcephaly, Plagiocephaly, Hypertelorism, Agenesis of corpus callosum	ORPHA:251056
Dihydropyrimidinase Deficiency	Reduced dihydropyrimidine dehydrogenase level, Reduced hepatic dihydropyrimidinase activity, Elev...	OMIM:222748
Fucosidosis	Low-set ears, Hearing impairment, Cherry red spot of the macula, Hepatomegaly, Spastic tetraplegi...	OMIM:230000
Glucagonoma	Diarrhea, Increased circulating prolactin concentration, Acanthocytosis, Nausea and vomiting, Int...	ORPHA:97280
Scalp-Ear-Nipple Syndrome	Abnormality of the dentition, Cataract, Delayed eruption of teeth, Recurrent urinary tract infect...	ORPHA:2036
X-Linked Microcephaly-Growth Retardation-Prognathism-Cryptorchidism Syndrome	Severe postnatal growth retardation, Branchial cyst	ORPHA:435938
Short Stature, Optic Nerve Atrophy, And Pelger-Huet Anomaly	Hypoplasia of the zygomatic bone, Long philtrum, Fine hair, Sandal gap, Micromelia, Broad hallux,...	OMIM:614800
Aicardi-Goutieres Syndrome 7	Diarrhea, Tetraparesis, Pancytopenia, Chilblains, Hepatic steatosis, Increased circulating antibo...	OMIM:615846
Amelogenesis Imperfecta, Type Iiia	Amelogenesis imperfecta, Dental malocclusion, Anterior open-bite malocclusion	OMIM:130900
Neurodevelopmental Disorder With Hypotonia And Speech Delay, With Or Without Seizures	Small hand, Spasticity, Hearing impairment, Micrognathia, Narrow mouth, Epicanthus, Chordee, Spas...	OMIM:620455
Cebalid Syndrome	Plagiocephaly, Platystencephaly, Polymicrogyria, Turricephaly, Brachycephaly, Hypertelorism, Doli...	OMIM:618774
Dyskeratosis Congenita, Autosomal Recessive 1	Bone marrow hypocellularity, Hepatic fibrosis, Carious teeth, Aplastic anemia, Small nail, Oral l...	OMIM:224230
Carnitine Deficiency, Systemic Primary	Diarrhea, Vomiting, Cardiomyopathy, Congestive heart failure, Hypertrophic cardiomyopathy, Elevat...	OMIM:212140
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia	Lymphadenitis, Recurrent otitis media, Lymphopenia, Hepatosplenomegaly, Pancytopenia, Impaired ne...	OMIM:618986
Onychodystrophy, Osteodystrophy, Impaired Intellectual Development, And Seizures Syndrome	Hypoplastic thumbnail, Bilateral triphalangeal thumbs, Short distal phalanx of finger, Abnormalit...	OMIM:619356
Tooth Agenesis, Selective, 4	Sparse eyebrow, Sparse scalp hair, Dystrophic toenail, Sparse body hair, Peg-shaped maxillary lat...	OMIM:150400
Isolated Succinate-Coq Reductase Deficiency	Abnormal atrioventricular conduction, Spasticity, Spastic paraparesis, Abnormal left ventricular ...	ORPHA:3208
Proteasome-Associated Autoinflammatory Syndrome 2	Decreased proportion of memory B cells, Recurrent viral infections, Clinodactyly, Abnormal circul...	OMIM:618048
Xeroderma Pigmentosum, Variant Type	Keratitis, Cutaneous telangiectasia, Entropion, Ectropion, Conjunctivitis, Photophobia	OMIM:278750
Malan Overgrowth Syndrome	Plagiocephaly, Lateral ventricle dilatation, Episodic ataxia, Scaphocephaly, Hypoplasia of the co...	ORPHA:420179
Gabriele-De Vries Syndrome	Low-set ears, Micrognathia, Frontal upsweep of hair, Cryptorchidism, Epiblepharon, Finger joint h...	OMIM:617557
Lymphoproliferative Syndrome 1	Decreased circulating IgG level, Hemophagocytosis, Pancytopenia, Leukopenia, Decreased proportion...	OMIM:613011
Joubert Syndrome 23	Dysplastic corpus callosum, Cerebellar dysplasia	OMIM:616490
Cone-Rod Dystrophy 16	Cataract, Attenuation of retinal blood vessels, Postaxial polydactyly, Reduced visual acuity, Pro...	OMIM:614500
Autoinflammation With Episodic Fever And Lymphadenopathy	Recurrent tonsillitis, Microcytic anemia, Splenomegaly, Oral ulcer, Lymphadenopathy, Hepatomegaly...	OMIM:618852
Thanatophoric Dysplasia, Glasgow Variant	Cataract, Neonatal death	OMIM:273680
Basel-Vanagaite-Smirin-Yosef Syndrome	Retrognathia, Cerebral atrophy, Furrowed tongue, Anteverted nares, Tented upper lip vermilion, Hy...	OMIM:616449
Degcags Syndrome	Low-set ears, Toe syndactyly, Hearing impairment, Oral-pharyngeal dysphagia, Premature graying of...	OMIM:619488
Microcephaly, Facial Dysmorphism, Renal Agenesis, And Ambiguous Genitalia Syndrome	Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Microcephaly, Brachycephaly, Hype...	OMIM:618142
Microcephaly With Or Without Chorioretinopathy, Lymphedema, Or Impaired Intellectual Development	Cataract, Microcornea, Myopic astigmatism, Astigmatism, Corneal opacity, Microphthalmia	OMIM:152950
Congenital Rubella Syndrome	Cataract, Corneal opacity, Aplasia/Hypoplasia of the iris, Microphthalmia	ORPHA:290
Larsen-Like Syndrome	Low-set ears, Dental malocclusion, Conductive hearing impairment, Recurrent otitis media, Radial ...	OMIM:608545
Tarp Syndrome	Low-set ears, Clinodactyly, Micrognathia, Neonatal death, Talipes equinovarus, Bilateral talipes ...	OMIM:311900
Neurodevelopmental Disorder With Cerebral Atrophy And Variable Facial Dysmorphism	Leukoencephalopathy, Dilated third ventricle, Lateral ventricle dilatation, Cerebral atrophy, Age...	OMIM:619244
Persistent Hyperplastic Primary Vitreous	Cataract, Microcornea, Persistent pupillary membrane, Macular hypoplasia, Leukocoria, Phthisis bu...	ORPHA:91495
Bartsocas-Papas Syndrome 2	Axillary pterygium, Popliteal pterygium, Microphthalmia, Corneal opacity, Antecubital pterygium	OMIM:619339
Musculocontractural Ehlers-Danlos Syndrome	Hearing impairment, Narrow mouth, Cryptorchidism, High palate, Recurrent skin infections, Abnorma...	ORPHA:2953
Hypotrichosis With Juvenile Macular Degeneration	Fine hair, Blindness, Pili torti, Abnormal limb bone morphology, Brittle hair, Sparse scalp hair	ORPHA:1573
Necrotizing Enterocolitis	Hypotension, Diarrhea, Abdominal distention, Vomiting, Hypoactive bowel sounds, Shock, Leukocytos...	ORPHA:391673
Miller-Dieker Lissencephaly Syndrome	Low-set ears, Cataract, Joint contracture of the hand, Delayed eruption of teeth, Progressive spa...	OMIM:247200
Autoinflammatory Syndrome, Familial, With Or Without Immunodeficiency	Splenomegaly, Decreased proportion of class-switched memory B cells, Coombs-positive hemolytic an...	OMIM:619375
Hyperinsulinism Due To Ucp2 Deficiency	Hypertrophic cardiomyopathy, Feeding difficulties, Palpitations, Lethargy, Syncope, Hepatomegaly,...	ORPHA:276556
Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia	Diarrhea, Vomiting, Hearing impairment, Blindness, Myoclonus, Ptosis, Ataxia, Hepatomegaly	OMIM:560000
Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, And Deafness	Increased bone mineral density, Osteopetrosis	OMIM:617306
Hemifacial Hyperplasia	Hypoplasia of the maxilla, Dental malocclusion	OMIM:133900
Temtamy Syndrome	Iris coloboma, Microphthalmia	ORPHA:1777
Myopathy, Centronuclear, X-Linked	Elevated circulating hepatic transaminase concentration, Dental malocclusion, Cryptorchidism, Ara...	OMIM:310400
Simpson-Golabi-Behmel Syndrome, Type 1	Broad thumb, Exaggerated median tongue furrow, Hearing impairment, Supernumerary nipple, Cryptorc...	OMIM:312870
Centrifugal Lipodystrophy	Alopecia, Inflammatory abnormality of the skin, Lymphadenitis	ORPHA:90156
Teebi Hypertelorism Syndrome 1	Highly arched eyebrow, Small hand, Natal tooth, Dental crowding, Long philtrum, Downslanted palpe...	OMIM:145420
Sorsby Pseudoinflammatory Fundus Dystrophy	Blindness, Visual loss, Nyctalopia, Severely reduced visual acuity, Large central visual field de...	ORPHA:59181
Microcephaly, Short Stature, And Polymicrogyria With Or Without Seizures	Cerebellar atrophy, Polymicrogyria, Agenesis of corpus callosum, Dysplastic corpus callosum, Micr...	OMIM:614833
Craniometaphyseal Dysplasia	Craniofacial hyperostosis, Osteopetrosis	ORPHA:1522
Steinert Myotonic Dystrophy	Diarrhea, Intestinal pseudo-obstruction, Oral-pharyngeal dysphagia, Decreased fertility, Talipes ...	ORPHA:273
Distal Deletion 19P	Alopecia, Hypoplasia of the maxilla, Conductive hearing impairment, Low-set, posteriorly rotated ...	ORPHA:96129
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 5	Cataract, Corneal opacity, Microphthalmia	OMIM:613153
Autosomal Dominant Hyperinsulinism Due To Sur1 Deficiency	Hypertrophic cardiomyopathy, Feeding difficulties, Palpitations, Lethargy, Syncope, Hepatomegaly,...	ORPHA:276575
Reynolds Syndrome	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Biliary cir...	OMIM:613471
Dysostosis, Stanescu Type	Abnormality of the dentition, Hypoplasia of the maxilla, Carious teeth, Hypoplasia of the zygomat...	ORPHA:1798
Autosomal Dominant Hyperinsulinism Due To Kir6.2 Deficiency	Hypertrophic cardiomyopathy, Feeding difficulties, Palpitations, Lethargy, Syncope, Hepatomegaly,...	ORPHA:276580
Craniosynostosis, Herrmann-Opitz Type	Turricephaly, Brachycephaly, Cognitive impairment, Hypertelorism, Craniosynostosis	ORPHA:2145
Methylmalonic Acidemia With Homocystinuria Type Cblf	Recurrent infections, Feeding difficulties, Skin rash, Reduced number of intrahepatic bile ducts,...	ORPHA:79284
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis	Micrognathia, Narrow mouth, Sensorineural hearing impairment, Talipes equinovarus, Elliptocytosis...	OMIM:300990
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 1	Carious teeth, Toe syndactyly, Xerostomia, Cryptorchidism, Sparse eyelashes, Absence of Stensen d...	OMIM:129900
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	ORPHA:2250
Peroxisomal Acyl-Coa Oxidase Deficiency	Brachycephaly, Frontal bossing, Hypertelorism	OMIM:264470
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome	Small hand, Large fleshy ears, Narrow mouth, Epicanthus, Feeding difficulties in infancy, High pa...	ORPHA:280633
Deafness-Craniofacial Syndrome	Wide nasal bridge, Abnormality of the dentition, Underdeveloped nasal alae, Short lingual frenulu...	ORPHA:3241
White-Sutton Syndrome	Abnormality of the outer ear, Incoordination, Narrow mouth, Open mouth, Chronic constipation, Sen...	ORPHA:468678
Ane Syndrome	Alopecia, Carious teeth, Decreased response to growth hormone stimulation test, Hypodontia, Hypog...	ORPHA:157954
Methylmalonic Aciduria And Homocystinuria, Cblx Type	Chorea, Microcephaly, Brachycephaly, Athetosis, Choreoathetosis	OMIM:309541
Matthew-Wood Syndrome	Anophthalmia, Microphthalmia	ORPHA:2470
Acrocallosal Syndrome	Low-set ears, Toe syndactyly, Postaxial foot polydactyly, Everted upper lip vermilion, Hearing im...	OMIM:200990
Xfe Progeroid Syndrome	Elevated circulating hepatic transaminase concentration, Hearing impairment, Corneal scarring, At...	OMIM:610965
Cleidocranial Dysplasia, Recessive Form	Brachycephaly	OMIM:216330
Houge-Janssens Syndrome 2	Plagiocephaly, Gait ataxia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Micro...	OMIM:616362
Non-Specific Early-Onset Epileptic Encephalopathy	Spasticity, Involuntary movements, Abnormality of vision, Gastroesophageal reflux, Downslanted pa...	ORPHA:442835
Congenital Factor Vii Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Intracranial ...	ORPHA:327
Dystonia 1, Torsion, Autosomal Dominant	Blepharospasm, Depression, Abnormal posturing, Generalized dystonia, Tremor, Babinski sign, Hyper...	OMIM:128100
Igg4-Related Ophthalmic Disease	Increased circulating IgE level, Abnormality of the sphenoid sinus, Prostatitis, Abnormality of t...	ORPHA:449563
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies	Low-set ears, Recurrent otitis media, Cholestasis, Hepatosplenomegaly, Cleft soft palate, Microgn...	OMIM:619503
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Hypoplastic facial bones, Cleft lip, Natal tooth, Microretrognathia, Hamartoma of tongue, Promine...	OMIM:616300
Microphthalmia-Microtia-Fetal Akinesia Syndrome	Short nose, Microphthalmia	ORPHA:2547
Developmental And Epileptic Encephalopathy 25 With Amelogenesis Imperfecta	Spasticity, Involuntary movements, Delayed eruption of teeth, Hypodontia, Amelogenesis imperfecta...	OMIM:615905
Spermatogenic Failure 81	Acrosomal hypoplasia, Reduced progressive sperm motility, Oligozoospermia, Multiple non-erupting ...	OMIM:620277
Mandibuloacral Dysplasia With Type B Lipodystrophy	Alopecia, Dental crowding, Micrognathia, Narrow mouth, Acroosteolysis of distal phalanges (feet),...	OMIM:608612
Krabbe Disease	Progressive spasticity, Vomiting, Hearing impairment, Blindness, Reduced galactocerebrosidase act...	OMIM:245200
Beemer-Ertbruggen Syndrome	Increased bone mineral density	ORPHA:1237
Familial Acute Necrotizing Encephalopathy	Cerebral edema, Abnormal thalamus morphology, Abnormal putamen morphology	ORPHA:88619
Xk Aprosencephaly Syndrome	Microphthalmia	ORPHA:3469
Methylmalonic Aciduria Due To Methylmalonyl-Coa Mutase Deficiency	Diarrhea, Vomiting, Cardiomyopathy, Leukopenia, Hepatomegaly, Cerebellar hemorrhage, Lethargy, Pa...	OMIM:251000
Cerebral Arteriopathy, Autosomal Recessive, With Subcortical Infarcts And Leukoencephalopathy	Alopecia, Spasticity, Transient ischemic attack, Dysmetria, Rigidity, Abnormality of extrapyramid...	OMIM:600142
Holoprosencephaly 7	Panhypopituitarism, Fusion of the left and right thalami, Hypotelorism, Agenesis of corpus callos...	OMIM:610828
Xeroderma Pigmentosum, Complementation Group E	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis, Photophobia	OMIM:278740
Spastic Paraplegia, Optic Atrophy, And Neuropathy	Flexion contracture, Exaggerated startle response	OMIM:609541
Indolent Systemic Mastocytosis	Mastocytosis, Elevated total serum tryptase, Increased proportion of CD25+ mast cells, Skin rash,...	ORPHA:98848
Acquired Von Willebrand Syndrome	Normocytic anemia, Aortic valve stenosis, Gastrointestinal hemorrhage, Hypochromic anemia, Aortic...	ORPHA:99147
Bernard-Soulier Syndrome	Gingival bleeding, Gastrointestinal hemorrhage, Giant platelets, Decreased platelet glycoprotein ...	ORPHA:274
Immunodeficiency 71 With Inflammatory Disease And Congenital Thrombocytopenia	Decreased mean platelet volume, Hematochezia, Inflammation of the large intestine, Recurrent pneu...	OMIM:617718
Amelogenesis Imperfecta, Type Iv	Taurodontia, Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Enamel hypoplasia	OMIM:104510
Crouzon Syndrome-Acanthosis Nigricans Syndrome	Proptosis, Chiari malformation, Turricephaly, Brachycephaly, Aplasia/Hypoplasia of the cerebellum...	ORPHA:93262
Sporadic Fetal Brain Disruption Sequence	Cerebral cortical atrophy, Plagiocephaly, Microcephaly, Prominent occiput	ORPHA:1665
Lethal Intrauterine Growth Restriction-Cortical Malformation-Congenital Contractures Syndrome	Cerebral cortical atrophy, Hydranencephaly, Aplasia/Hypoplasia of the corpus callosum, Deeply set...	ORPHA:2570
Renal Tubular Acidosis, Distal, 4, With Hemolytic Anemia	Hepatosplenomegaly, Reticulocytosis, Lethargy, Anorexia, Decreased mean corpuscular volume, Hemol...	OMIM:611590
Alg1-Cdg	Protein-losing enteropathy, Abnormality of the gastrointestinal tract, Chronic diarrhea	ORPHA:79327
Hyperinsulinism Due To Hnf1A Deficiency	Feeding difficulties, Palpitations, Lethargy, Syncope, Hepatomegaly, Tachycardia, Episodic hyperh...	ORPHA:324575
Trisomy 8Q	Wide nasal bridge, Micrognathia, Abnormal oral frenulum morphology, Orofacial cleft, Everted lowe...	ORPHA:1752
Medulloblastoma	Diplopia, Elevated circulating hepatic transaminase concentration, Vertigo, Adenomatous colonic p...	ORPHA:616
Trisomy 8P	Clinodactyly of the 2nd finger, Abnormal middle ear morphology, Overlapping toe, Cryptorchidism, ...	ORPHA:264450
Arthrogryposis, Distal, Type 5D	Bulbous nose, Anteverted nares, Furrowed tongue, Open mouth, Narrow mouth, Micrognathia, Tongue a...	OMIM:615065
Mitchell-Riley Syndrome	Diarrhea, Meckel diverticulum, Anteriorly placed anus, Intestinal malrotation, Jejunal atresia, A...	OMIM:615710
Multifocal Lymphangioendotheliomatosis-Thrombocytopenia Syndrome	Hematochezia, Gastrointestinal hemorrhage, Melena, Diffuse alveolar hemorrhage, Hypertrophic card...	ORPHA:464321
Palmoplantar Keratoderma And Congenital Alopecia 1	Alopecia, Sparse eyebrow, Palmoplantar keratoderma, Leukonychia, Nail dysplasia, Brittle hair, Sp...	OMIM:104100
Methylmalonic Aciduria And Homocystinuria, Cblc Type	Low-set ears, Reduced visual acuity, Feeding difficulties in infancy, Neutropenia, Hepatomegaly, ...	OMIM:277400
Liver Disease, Severe Congenital	Dry hair, Portal inflammation, Diarrhea, Recurrent otitis media, Micrognathia, Hepatic steatosis,...	OMIM:619991
Leber Congenital Amaurosis 16	Cataract, Visual field defect, Reduced visual acuity, Nyctalopia, Photophobia, Visual impairment	OMIM:614186
Vasculopathy, Retinal, With Cerebral Leukoencephalopathy And Systemic Manifestations	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Micronodula...	OMIM:192315
Congenital Disorder Of Glycosylation, Type Ib	Protein-losing enteropathy, Vomiting, Diarrhea, Villous atrophy, Steatorrhea	OMIM:602579
3-Methylglutaconic Aciduria, Type Viib	Spasticity, Micrognathia, Hepatic steatosis, Opisthotonus, Neutropenia, Ataxia, Tube feeding, Cho...	OMIM:616271
3M Syndrome	Delayed eruption of teeth, Long philtrum, Micromelia, Abnormal dental enamel morphology, Thick ey...	ORPHA:2616
Tumoral Calcinosis, Hyperphosphatemic, Familial, 1	Hyperparathyroidism, Elevated circulating alkaline phosphatase concentration, Taurodontia, Pulp c...	OMIM:211900
Ichthyosis-Alopecia-Eclabion-Ectropion-Intellectual Disability Syndrome	Sparse eyebrow, Congenital alopecia totalis, Alopecia of scalp, Absent pubic hair, Absent axillar...	ORPHA:2269
Multicentric Osteolysis, Nodulosis, And Arthropathy	Distal tapering of metatarsals, Finger swelling, Micrognathia, Interphalangeal joint erosions, Hy...	OMIM:259600
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Microphthalmia/Coloboma 9	Microcornea, Ocular anterior segment dysgenesis, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:615145
Carney Triad	Gastrointestinal hemorrhage, Diarrhea, Pheochromocytoma, Nausea and vomiting, Hypertension, Gastr...	ORPHA:139411
Alpers-Huttenlocher Syndrome	Spasticity, Spastic paraparesis, Abnormality of vision, Blindness, Myoclonus, Paraparesis, Ataxia...	ORPHA:726
Faciodigitogenital Syndrome, Autosomal Recessive	Narrow palate, Dental malocclusion, Hearing impairment, Downslanted palpebral fissures, Wide mout...	OMIM:227330
Autoimmune Polyendocrinopathy Type 1	Cataract, Alopecia, Visual impairment, Chronic mucocutaneous candidiasis, Abnormal fingernail mor...	ORPHA:3453
Autosomal Recessive Spastic Paraplegia Type 11	Mental deterioration, Hypothalamic atrophy, Memory impairment, Cerebral cortical atrophy, Lateral...	ORPHA:2822
Kimura Disease	Increased circulating IgE level, Follicular hyperplasia, Eosinophilia, Lymphadenopathy, Abnormal ...	ORPHA:482
Craniometadiaphyseal Dysplasia, Wormian Bone Type	Osteopenia, Increased bone mineral density, Thin bony cortex	ORPHA:85184
Stickler Syndrome Type 1	Hypoplasia of the maxilla, Cleft palate, Long philtrum, Short nose	ORPHA:90653
Mohr-Tranebjaerg Syndrome	Prelingual sensorineural hearing impairment, Aspiration pneumonia, Sensorineural hearing impairme...	ORPHA:52368
Intellectual Developmental Disorder, Autosomal Dominant 58	Wide nasal bridge, Broad nasal tip, Dental crowding, Protruding tongue, Submucous cleft hard pala...	OMIM:618106
Ectrodactyly, Ectodermal Dysplasia, And Cleft Lip/Palate Syndrome 3	Carious teeth, Toe syndactyly, Hearing impairment, Xerostomia, Cryptorchidism, Sparse eyelashes, ...	OMIM:604292
Mandibulofacial Dysostosis-Microcephaly Syndrome	Hypoplasia of the maxilla, Secondary microcephaly, Micrognathia, Malar flattening, Short nose, Cl...	ORPHA:79113
Fanconi Anemia, Complementation Group J	Microphthalmia	OMIM:609054
Craniolenticulosutural Dysplasia	Hypoplasia of the maxilla, Carious teeth, Coarse hair, Delayed eruption of teeth, Long philtrum, ...	ORPHA:50814
Autoimmune Lymphoproliferative Syndrome	Increased circulating IgE level, Lymphopenia, Hypersplenism, Decreased proportion of CD4-positive...	ORPHA:3261
Epidermolysis Bullosa, Lethal Acantholytic	Alopecia universalis, Natal tooth, Sandal gap, Widely spaced toes, Alopecia totalis, Neonatal dea...	OMIM:609638
Spondylometaphyseal Dysplasia With Cone-Rod Dystrophy	Ectopia pupillae, Recurrent otitis media, Reduced visual acuity, Short metacarpal, Increased hepa...	OMIM:608940
Acquired Idiopathic Sideroblastic Anemia	Hypochromic anemia, Pancytopenia, Chronic infection, Anemia of inadequate production, Acute myelo...	ORPHA:75564
Chromosome 5P13 Duplication Syndrome	Proptosis, Hypotelorism, Turricephaly, Agenesis of corpus callosum, Brachycephaly, Hypertelorism,...	OMIM:613174
Intellectual Developmental Disorder With Behavioral Abnormalities And Craniofacial Dysmorphism With Or Without Seizures	Attention deficit hyperactivity disorder, Plagiocephaly	OMIM:618725
Xeroderma Pigmentosum, Complementation Group C	Keratitis, Telangiectasia, Entropion, Ectropion, Conjunctivitis, Photophobia	OMIM:278720
X-Linked Intellectual Disability, Porteous Type	Hypoplasia of the maxilla, Bulbous nose, Short philtrum, Mandibular prognathia	ORPHA:93945
Nodular Lymphocyte Predominant Hodgkin Lymphoma	Splenomegaly, Hyperhidrosis, Lymphadenopathy, Anorexia, Hepatomegaly	ORPHA:86893
Osteopathia Striata-Cranial Sclerosis Syndrome	Low-set ears, High, narrow palate, Bifid uvula, Cataract, Conductive hearing impairment, Delayed ...	ORPHA:2780
Encephalocraniocutaneous Lipomatosis	Aortic valve stenosis, Craniofacial hyperostosis, Alopecia, Spasticity, Hemiplegia, Hemiparesis, ...	ORPHA:2396
Grfoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97261
Combined Deficiency Of Factor V And Factor Viii	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Prolonged bleeding following circumcis...	ORPHA:35909
Constricting Bands, Congenital	Tessier cleft, Cleft palate, Cleft upper lip	OMIM:217100
Rhabdoid Tumor	Cerebral palsy, Hemiplegia, Nausea and vomiting, Neoplasm of the liver, Lymphadenopathy, Thromboc...	ORPHA:69077
Isolated Congenital Alacrima	Keratitis, Lacrimal gland hypoplasia, Lacrimal punctal atresia, Distichiasis, Ptosis, Conjunctivi...	ORPHA:91416
Menkes Disease	Alopecia, Metaphyseal spurs, Babinski sign, Metaphyseal widening, Brittle hair, Hypertonia, Intra...	OMIM:309400
8Q22.1 Microdeletion Syndrome	Wide nasal bridge, Depressed nasal ridge, Abnormality of the dentition, Hypoplasia of the maxilla...	ORPHA:178303
Colonic Atresia	Peptic ulcer, Colonic atresia, Duodenal stenosis	ORPHA:1198
Mucopolysaccharidosis Type 2, Severe Form	Hepatosplenomegaly, Sensorineural hearing impairment, Arrhythmia, Diaphyseal undertubulation, Vis...	ORPHA:217085
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Agenesis of corpus callosum, Median cleft upper ...	OMIM:174300
Immunodeficiency 98 With Autoinflammation, X-Linked	Bone marrow hypocellularity, Decreased circulating IgG level, Pneumocystis jirovecii pneumonia, H...	OMIM:301078
Legionnaires Disease	Bone marrow hypocellularity, Hypotension, Sepsis, Diarrhea, Hepatitis, Anorexia, Lymphopenia, Nau...	ORPHA:549
Craniosynostosis 4	Ectopic posterior pituitary, Coronal craniosynostosis, Lambdoidal craniosynostosis, Proptosis, Bi...	OMIM:600775
Classic Hodgkin Lymphoma	Bone marrow hypocellularity, Anorexia, Splenomegaly, Skin rash, Hyperhidrosis, Lymphadenopathy, A...	ORPHA:391
3-Methylcrotonyl-Coa Carboxylase 2 Deficiency	Alopecia, Vomiting, Cerebral palsy, Propionyl-CoA carboxylase deficiency, Opisthotonus, Lethargy,...	OMIM:210210
Infantile Refsum Disease	Cataract, Spasticity, Hearing impairment, Cardiomyopathy, Constriction of peripheral visual field...	ORPHA:772
Spastic Paraplegia-Optic Atrophy-Neuropathy Syndrome	Multiple joint contractures, Exaggerated startle response	ORPHA:320406
Crouzon Syndrome With Acanthosis Nigricans	Craniosynostosis, Brachycephaly, Proptosis, Hypertelorism	OMIM:612247
Linear Skin Defects With Multiple Congenital Anomalies 2	Short nose, Microphthalmia	OMIM:300887
Microphthalmia, Syndromic 3	Cataract, Optic nerve aplasia, Anophthalmia, Microphthalmia, Sclerocornea, Optic nerve hypoplasia	OMIM:206900
Retinopathy, Pericentral Pigmentary, Dominant	Attenuation of retinal blood vessels, Blindness, Nyctalopia	OMIM:180210
Majeed Syndrome	Osteomyelitis, Increased susceptibility to fractures, Synovitis, Increased bone mineral density, ...	ORPHA:77297
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Underdeveloped nasal alae, Long philtrum, Cleft m...	OMIM:608670
Retinal Cone Dystrophy 3B	Scotoma, Astigmatism, Reduced visual acuity, Nyctalopia, Myopia, Photophobia	OMIM:610356
Sporadic Infantile Bilateral Striatal Necrosis	Recurrent upper respiratory tract infections, Resting tremor, Progressive extrapyramidal muscular...	ORPHA:225147
Dental Anomalies And Short Stature	Hypoplasia of the maxilla, Widely spaced teeth, Oligodontia, Microdontia, Amelogenesis imperfecta...	OMIM:601216
Vitreoretinochoroidopathy	Microcornea, Developmental cataract, Pulverulent cataract, Microphthalmia	OMIM:193220
Cone-Rod Dystrophy 24	Color vision defect, Scotoma, Attenuation of retinal blood vessels, Reduced visual acuity, Nyctal...	OMIM:620342
Congenital Disorder Of Glycosylation, Type Iia	Mandibular prognathia, Retrognathia, Long philtrum, Diastema, Macrodontia, Prominent nasal bridge...	OMIM:212066
Schimmelpenning-Feuerstein-Mims Syndrome	Alopecia, Abnormal dental morphology, Abnormal finger morphology, Corneal opacity, Abnormality of...	OMIM:163200
Congenital Disorder Of Glycosylation, Type Iig	Wide nasal bridge, Cerebellar vermis hypoplasia, Cerebral atrophy, Long philtrum, Anteverted nare...	OMIM:611209
Spondylo-Ocular Syndrome	Iris hypopigmentation, Cataract, Aplasia/Hypoplasia of the lens, Microphthalmia	ORPHA:85194
Immunodeficiency 113 With Autoimmunity And Autoinflammation	Minimal change glomerulonephritis, Spasticity, Recurrent viral infections, Increased circulating ...	OMIM:620565
Evans Syndrome	Epistaxis, Bruising susceptibility, Autoimmune hemolytic anemia, Petechiae, Lethargy, Syncope, Ne...	ORPHA:1959
Brucellosis	Arteritis, Sacroiliac arthritis, Hypersplenism, Knee osteoarthritis, Glomerulonephritis, Anorexia...	ORPHA:1304
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal fingertip morphology, Recurrent skin infections, Abnormality of the nail, Abnormal oral ...	ORPHA:79404
Diaphyseal Medullary Stenosis With Malignant Fibrous Histiocytoma	Patchy osteosclerosis, Osteopenia, Diaphyseal cortical sclerosis, Fractures of the long bones, Pa...	OMIM:112250
Trichodermodysplasia-Dental Alterations Syndrome	Palmoplantar keratoderma, Sparse lateral eyebrow, Fine hair, Delayed eruption of teeth, Tooth age...	ORPHA:3353
Von Willebrand Disease	Epistaxis, Gastrointestinal hemorrhage, Deviation of finger, Bruising susceptibility, Microcytic ...	ORPHA:903
Meige Disease	Lymph node hypoplasia, Recurrent skin infections, Absence of lymph node germinal center, Recurren...	ORPHA:90186
Mucopolysaccharidosis Type 2, Attenuated Form	Hepatosplenomegaly, Sensorineural hearing impairment, Arrhythmia, Diaphyseal undertubulation, Vis...	ORPHA:217093
Afibrinogenemia, Congenital	Gingival bleeding, Epistaxis, Abnormal bleeding, Subdural hemorrhage, Bruising susceptibility, Pr...	OMIM:202400
Mff-Related Encephalopathy Due To Mitochondrial And Peroxisomal Fission Defect	Secondary microcephaly, Cerebellar atrophy, Abnormal basal ganglia MRI signal intensity, Abnormal...	ORPHA:485421
Hypoglossia-Hypodactyly Syndrome	Wide nasal bridge, Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognath...	ORPHA:989
Schinzel-Giedion Syndrome	Low-set ears, Abnormality of the outer ear, Abnormal helix morphology, Spasticity, Overlapping to...	ORPHA:798
Eales Disease	Epistaxis, Spastic paraparesis, Rubeosis iridis, Peripheral retinal neovascularization, Transient...	ORPHA:40923
Lysinuric Protein Intolerance	Diarrhea, Hemophagocytosis, Hepatosplenomegaly, Increased circulating antibody level, Cirrhosis, ...	ORPHA:470
Marshall Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill...	ORPHA:560
Alström Syndrome	Testicular fibrosis, Elevated gamma-glutamyltransferase level, Frontal balding, Incoordination, H...	ORPHA:64
Congenital Myopathy 17	Low-set ears, Hand clenching, Dental malocclusion, Clinodactyly, Long philtrum, Downslanted palpe...	OMIM:618975
Myopathy, Mitochondrial, And Ataxia	Depression, Hearing impairment, Increased circulating prolactin concentration, Micrognathia, Limb...	OMIM:617675
Posterior Column Ataxia-Retinitis Pigmentosa Syndrome	Truncal titubation, Cataract, Osteomyelitis, Impaired vibration sensation in the lower limbs, Gai...	ORPHA:88628
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplastic fingernail, Micrognathia, Acro...	ORPHA:2457
Sea-Blue Histiocytosis	Abnormal bleeding, Sea-blue histiocytosis, Splenomegaly, Petechiae, Thrombocytopenia, Hepatomegal...	ORPHA:158029
Pseudopseudohypoparathyroidism	Cataract, Delayed eruption of teeth, Pseudohypoparathyroidism, Enamel hypoplasia, Brachydactyly, ...	OMIM:612463
Bloom Syndrome	Decreased circulating IgG level, Facial telangiectasia in butterfly midface distribution, Recurre...	OMIM:210900
Combined Oxidative Phosphorylation Deficiency 11	Tongue fasciculations, Hearing impairment, Decreased liver function, Cardiomyopathy, Myoclonus, H...	OMIM:614922
Robinow Syndrome, Autosomal Dominant 1	Low-set ears, Bifid distal phalanx of toe, Small hand, Broad thumb, Clinodactyly, Micrognathia, S...	OMIM:180700
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Progressive microcephaly, Tongue atrophy, Cerebral atrophy	OMIM:614678
Laron Syndrome	Delayed eruption of teeth, Short toe, Tooth agenesis, Micrognathia, Microdontia, Hypohidrosis, Br...	ORPHA:633
Codas Syndrome	Cataract, Crumpled ear, Vocal cord paresis, Conductive hearing impairment, Delayed eruption of te...	OMIM:600373
Retinitis Pigmentosa 35	Reduced visual acuity, Blindness, Nyctalopia	OMIM:610282
Nephronophthisis 15	Blindness, Elevated circulating hepatic transaminase concentration, Polydactyly	OMIM:614845
Ehlers-Danlos Syndrome, Musculocontractural Type, 1	Low-set ears, Hearing impairment, Narrow mouth, Cryptorchidism, Mitral regurgitation, Arachnodact...	OMIM:601776
Hypophosphatemic Rickets, X-Linked Recessive	Delayed epiphyseal ossification, Rickets, Osteomalacia, Hypophosphatemic rickets, Sparse bone tra...	OMIM:300554
Oculoauricular Syndrome	Cataract, Microcornea, Posterior synechiae of the anterior chamber, Iris cyst, Macular hypoplasia...	OMIM:612109
Impaired Intellectual Development, Truncal Obesity, Retinal Dystrophy, And Micropenis Syndrome	Cataract, Spasticity, Reduced visual acuity, Nyctalopia	OMIM:610156
Hypotrichosis-Intellectual Disability, Lopes Type	Advanced eruption of teeth, Sparse hair, 1-5 finger complete cutaneous syndactyly	ORPHA:2266
Autosomal Recessive Palmoplantar Keratoderma And Congenital Alopecia	Cataract, Palmoplantar keratoderma, Alopecia totalis, Nail dystrophy, Visual impairment	ORPHA:1366
Spastic Paraplegia-Intellectual Disability-Nystagmus-Obesity Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Deeply set eye	ORPHA:521390
Craniolenticulosutural Dysplasia	Bifid uvula, Posterior Y-sutural cataract, Carious teeth, Coarse hair, Delayed eruption of teeth,...	OMIM:607812
Paget Disease Of Bone 5, Juvenile-Onset	Osteopenia, Increased bone mineral density, Ankylosis, Osteoporosis, Recurrent fractures	OMIM:239000
Alopecia Universalis	Alopecia universalis, Atopic dermatitis, Psoriasiform dermatitis, Absent eyelashes, Patchy alopec...	ORPHA:701
Proximal 16P11.2 Microduplication Syndrome	Sparse eyebrow, Abnormality of the hairline, Tremor, Sparse eyelashes, Thin upper lip vermilion, ...	ORPHA:370079
Pseudoxanthoma Elasticum, Forme Fruste	High, narrow palate, Gastrointestinal hemorrhage, Angina pectoris, Reduced visual acuity, Cerebra...	OMIM:177850
Vitamin B12-Responsive Methylmalonic Acidemia	Anemia, Hepatomegaly, Lethargy, Nausea and vomiting	ORPHA:28
Genitopatellar Syndrome	Low-set ears, Gastroesophageal reflux, Hearing impairment, Fine hair, Delayed eruption of teeth, ...	ORPHA:85201
Cancer, Alopecia, Pigment Dyscrasia, Onychodystrophy, And Keratoderma	Alopecia, Palmoplantar keratoderma, Alopecia of scalp, Nail dystrophy, Multinodular goiter, Conju...	OMIM:618373
Fanconi Renotubular Syndrome 2	Osteopenia, Rickets, Recurrent fractures, Osteomalacia	OMIM:613388
Sarcosinemia	Tetraparesis, Hypertrophic cardiomyopathy, Congenital blindness, Infantile sensorineural hearing ...	ORPHA:3129
Trisomy 1Q	Anophthalmia	ORPHA:261344
Microvillus Inclusion Disease	Diarrhea, Villous atrophy, Abnormal small intestinal villus morphology	ORPHA:2290
Rosaï-Dorfman Disease	Paraplegia, Paresthesia, Dysgammaglobulinemia, Lymphadenopathy, Anemia	ORPHA:158014
Immunodeficiency 33	Conical tooth, Pneumocystis jirovecii pneumonia, Delayed eruption of teeth, Disseminated nontuber...	OMIM:300636
Martinez-Frias Syndrome	Intestinal malrotation, Jejunal atresia, Tracheoesophageal fistula, Intestinal hypoplasia, Duoden...	OMIM:601346
Glycogen Storage Disease Due To Glucose-6-Phosphatase Deficiency Type Ib	Inflammation of the large intestine, Carious teeth, Periodontitis, Diarrhea, Xanthelasma, Prolong...	ORPHA:79259
Chromosome 17Q23.1-Q23.2 Deletion Syndrome	Slender finger, Hearing impairment, Tibial torsion, Epicanthus, Talipes equinovarus, Long toe, Pu...	OMIM:613355
Satoyoshi Syndrome	Alopecia universalis, Alopecia, Diarrhea, Genu valgum, Malabsorption, Amenorrhea, Osteolytic defe...	OMIM:600705
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation	Aortic valve stenosis, Tooth malposition, Spasticity, Hyphema, Ectopia pupillae, Recurrent otitis...	ORPHA:261552
Pallister-Killian Syndrome	Low-set ears, Aortic valve stenosis, Small hand, Postaxial foot polydactyly, Hearing impairment, ...	OMIM:601803
Orofaciodigital Syndrome Iii	Bifid uvula, Bulbous nose, Microdontia, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Houge-Janssens Syndrome 3	Plagiocephaly, Proptosis, Hypoplasia of the corpus callosum, Microcephaly, Attention deficit hype...	OMIM:618354
Viss Syndrome	Low-set ears, Increased circulating IgE level, Exostosis of the external auditory canal, Feeding ...	OMIM:619472
Late Infantile Neuronal Ceroid Lipofuscinosis	Spasticity, Blindness, Myoclonus, Astigmatism, Visual loss, Abnormal circulating enzyme concentra...	ORPHA:168491
Poems Syndrome	Hyperesthesia, Polycythemia, Increased circulating prolactin concentration, Hypertrichosis, Hypog...	ORPHA:2905
Monosomy 13Q34	Hematochezia, Epistaxis, Postaxial foot polydactyly, Horizontal eyebrow, Abnormal earlobe morphol...	ORPHA:96168
Carey-Fineman-Ziter Syndrome 1	Depressed nasal bridge, Broad nasal tip, Microglossia, Retrognathia, Hypoplasia of the brainstem,...	OMIM:254940
Lymphangioleiomyomatosis	Gastrointestinal hemorrhage, Ungual fibroma, Pulmonary lymphangiomyomatosis, Abnormality of the l...	ORPHA:538
Usher Syndrome, Type Iiia	Abnormal vestibular function, Sensorineural hearing impairment, Visual field defect, Reduced visu...	OMIM:276902
Craniosynostosis-Hydrocephalus-Arnold-Chiari Malformation Type I-Radioulnar Synostosis Syndrome	Chiari malformation, Cerebral atrophy, Abnormal septum pellucidum morphology, Turricephaly, Brach...	ORPHA:171839
Microphthalmia, Syndromic 9	Wide nasal bridge, Anophthalmia, Bilateral microphthalmos, Neonatal death	OMIM:601186
Autosomal Recessive Hypophosphatemic Rickets	Abnormal trabecular bone morphology, Pseudo-fractures, Osteomalacia, Rickets of the lower limbs, ...	ORPHA:289176
Mandibulofacial Dysostosis With Ptosis, Autosomal Dominant	Joint contracture of the hand, Dental malocclusion, Atresia of the external auditory canal, Condu...	OMIM:608257
Wiedemann-Rautenstrauch Syndrome	Low-set ears, Spasticity, Natal tooth, Increased circulating prolactin concentration, Recurrent o...	ORPHA:3455
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Spastic paraparesis, Resting tremor, Hearing impairment, Incoordination, Paraparesis, Gait apraxi...	OMIM:615157
Lowry-Maclean Syndrome	Delayed eruption of teeth, Cleft palate	OMIM:600252
Intellectual Developmental Disorder With Dysmorphic Facies And Behavioral Abnormalities	Plagiocephaly, Short attention span, Deeply set eye, Microcephaly, Hypertelorism	OMIM:618089
Wolf-Hirschhorn Syndrome	Ectopia pupillae, Micrognathia, Cryptorchidism, Sensorineural hearing impairment, Low posterior h...	OMIM:194190
Anophthalmia-Megalocornea-Cardiopathy-Skeletal Anomalies Syndrome	Aniridia, Corneal dystrophy, Anophthalmia, Megalocornea	ORPHA:1101
Neonatal Intrahepatic Cholestasis Due To Citrin Deficiency	Cataract, Elevated gamma-glutamyltransferase level, Elevated circulating hepatic transaminase con...	ORPHA:247598
Mowat-Wilson Syndrome	Aortic valve stenosis, Tooth malposition, Spasticity, Recurrent otitis media, Genu valgum, Open m...	ORPHA:2152
Satoyoshi Syndrome	Alopecia universalis, Abnormal hair morphology, Abnormality of the ovary, Abnormality of the wris...	ORPHA:3130
Malocclusion Due To Protuberant Upper Front Teeth	Dental malocclusion	OMIM:154300
Craniometadiaphyseal Dysplasia	Low-set ears, Carious teeth, Natal tooth, Absent paranasal sinuses, Dental crowding, Downslanted ...	OMIM:269300
Citrullinemia Type Ii	Hepatic fibrosis, Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, De...	ORPHA:247585
Chst3-Related Skeletal Dysplasia	Highly arched eyebrow, Sparse eyebrow, Rhizomelia, Delayed eruption of teeth, Long philtrum, Genu...	ORPHA:263463
Mitochondrial Complex Iv Deficiency, Nuclear Type 3	Focal T2 hyperintense thalamic lesion, Ataxia	OMIM:619046
Warburg Micro Syndrome 3	Cataract, Microcornea, Developmental cataract, Microphthalmia, Shallow anterior chamber, Short nose	OMIM:614222
Stromme Syndrome	Wide nasal bridge, Cataract, Microcornea, Peters anomaly, Stillbirth, Microphthalmia, Sclerocorne...	OMIM:243605
Scedosporiosis	Pneumonia, Abnormal jejunum morphology, Unusual CNS infection, Unusual skin infection, Sepsis, In...	ORPHA:449280
Pseudoxanthoma Elasticum	Gastrointestinal hemorrhage, Restrictive cardiomyopathy, Congestive heart failure, Mitral stenosi...	OMIM:264800
Developmental And Epileptic Encephalopathy 80	Wide nasal bridge, Long philtrum, Polymicrogyria, Micrognathia, Tented upper lip vermilion, Protr...	OMIM:618580
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Low-set ears, Ataxia, Dilated cardiomyopathy, Pulmonary embolism, Subdural hemorrhage, Feeding di...	ORPHA:79282
Corneodermatoosseous Syndrome	Carious teeth, Palmoplantar keratoderma, Hearing impairment, Abnormal fingernail morphology, Abno...	ORPHA:3194
Wiskott-Aldrich Syndrome	Gingival bleeding, Inflammation of the large intestine, Diarrhea, Recurrent otitis media, Lymphop...	OMIM:301000
Kallmann Syndrome	Color vision defect, Tooth agenesis, Breast hypoplasia, Decreased testicular size, Paraplegia, De...	ORPHA:478
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Temtamy Syndrome	Ectopia lentis, Iris coloboma, Lens luxation, Microphthalmia	OMIM:218340
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Splenomegaly, Single transverse palmar crease, Epicanthus, Reduced visual acuity, Hepatomegaly, H...	OMIM:618541
Semilobar Holoprosencephaly	Spasticity, Aspiration pneumonia, Limb dystonia, Abnormal gastrointestinal tract morphology, Sens...	ORPHA:220386
Alobar Holoprosencephaly	Spasticity, Aspiration pneumonia, Limb dystonia, Abnormal gastrointestinal tract morphology, Sens...	ORPHA:93925
Midline Interhemispheric Variant Of Holoprosencephaly	Spasticity, Aspiration pneumonia, Limb dystonia, Abnormal gastrointestinal tract morphology, Sens...	ORPHA:93926
Lobar Holoprosencephaly	Spasticity, Aspiration pneumonia, Limb dystonia, Abnormal gastrointestinal tract morphology, Sens...	ORPHA:93924
Björnstad Syndrome	Sensorineural hearing impairment, Alopecia, Hypogonadism, Brittle hair	ORPHA:123
Ifap Syndrome 1, With Or Without Bresheck Syndrome	Hearing impairment, Cryptorchidism, Neonatal death, Absent eyelashes, Absent eyebrow, Erythroderm...	OMIM:308205
Holoprosencephaly 2	Bifid uvula, Proboscis, Median cleft palate, Malar flattening, Submucous cleft hard palate, Aplas...	OMIM:157170
Hemophagocytic Lymphohistiocytosis, Familial, 2	Ataxia, Elevated circulating hepatic transaminase concentration, Hemophagocytosis, Reduced natura...	OMIM:603553
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii	Low-set ears, Spasticity, Micrognathia, Bilateral single transverse palmar creases, Cryptorchidis...	ORPHA:2636
Familial Papillary Or Follicular Thyroid Carcinoma	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:319487
Sclerosteosis 1	Irregular menstruation, Tooth malposition, Dental malocclusion, Hearing impairment, Deviation of ...	OMIM:269500
Immunodeficiency 82 With Systemic Inflammation	Diarrhea, Decreased circulating total IgG, Pustular rash, Anoperineal fistula, Recurrent otitis m...	OMIM:619381
Intellectual Developmental Disorder, Autosomal Dominant 64	Plagiocephaly, Periventricular nodular heterotopia, Cerebellar hypoplasia, Microcephaly, Attentio...	OMIM:619188
Intellectual Developmental Disorder, X-Linked, Syndromic, Lujan-Fryns Type	Hypoplasia of the maxilla, Dental crowding, Narrow nose, Narrow nasal bridge, Prominent nasal bri...	OMIM:309520
Sturge-Weber Syndrome	Abnormality of vision, Pulmonary embolism, Gingival overgrowth, Blindness, Hearing abnormality, H...	ORPHA:3205
Osteogenesis Imperfecta, Type Xii	Dentinogenesis imperfecta, Delayed eruption of teeth, Hearing impairment, Bowing of the legs, Mic...	OMIM:613849
Microcephaly-Capillary Malformation Syndrome	Hypoplasia of the maxilla, Cerebral atrophy, Wide nose, Hypoplasia of the corpus callosum, Progre...	OMIM:614261
Bothnia Retinal Dystrophy	Large central visual field defect, Color vision defect, Central scotoma, Visual field defect, Pro...	ORPHA:85128
Classic Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Abnormal posturing, Generalized dystonia, Aspiration pneumonia, Blindness, Opisthoton...	ORPHA:216866
Olmsted Syndrome, X-Linked	Subungual hyperkeratosis, Posterior blepharitis, Palmoplantar keratoderma, Alopecia totalis, Palm...	OMIM:300918
Distal Xq28 Microduplication Syndrome	Epistaxis, Recurrent upper respiratory tract infections, Broad nasal tip, Dental crowding, Hypopl...	ORPHA:293939
Cardioacrofacial Dysplasia 1	Conical tooth, Hypoplasia of the maxilla, Diastema, Overhanging nasal tip, Short philtrum, Access...	OMIM:619142
Congenital Stationary Night Blindness	Color vision defect, Congenital stationary night blindness with abnormal fundus, Congenital stati...	ORPHA:215
Meningioma	Transient global amnesia, Secondary growth hormone deficiency, Memory impairment, Hypothalamic hy...	ORPHA:2495
Drug Reaction With Eosinophilia And Systemic Symptoms	Elevated circulating hepatic transaminase concentration, Hepatitis, Acute hepatic failure, Inters...	ORPHA:139402
Hypothyroidism, Congenital, Nongoitrous, 6	Anemia, Macroglossia, Constipation, Delayed eruption of teeth	OMIM:614450
Neuroendocrine Tumor Of Stomach	Protracted diarrhea, Nausea and vomiting, Anorexia, Hepatomegaly, Right ventricular failure, Tric...	ORPHA:100075
20Q13.33 Microdeletion Syndrome	Highly arched eyebrow, Hematochezia, Prominent crus of helix, Low-set, posteriorly rotated ears, ...	ORPHA:261311
Even-Plus Syndrome	Dysplastic corpus callosum, Brachycephaly, Agenesis of corpus callosum	OMIM:616854
Panhypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95513
Microcephaly 26, Primary, Autosomal Dominant	Wide nasal bridge, Long philtrum, Prominent nasal bridge, Gingival overgrowth, Protruding tongue,...	OMIM:619179
Vascular Malformation, Primary Intraosseous	Gingival bleeding, Hypochromic anemia, Ectopic tooth eruption, Visual loss, Elevated circulating ...	OMIM:606893
Chondrodysplasia Punctata 2, X-Linked Dominant	Cataract, Sparse eyebrow, Rhizomelia, Hearing impairment, Downslanted palpebral fissures, Hemiatr...	OMIM:302960
Isolated Complex I Deficiency	Vomiting, Hypertrophic cardiomyopathy, Blindness, Sensorineural hearing impairment, Lethargy, Pto...	ORPHA:2609
Thyroid Dyshormonogenesis 1	Macroglossia, Lethargy, Constipation, Goiter	OMIM:274400
Frank-Ter Haar Syndrome	Low-set ears, Megalocornea, Micrognathia, Bowing of the long bones, Talipes equinovarus, Bilatera...	OMIM:249420
Central Areolar Choroidal Dystrophy	Slow decrease in visual acuity, Dyschromatopsia, Visual loss, Reduced visual acuity, Nyctalopia, ...	ORPHA:75377
Methylmalonate Semialdehyde Dehydrogenase Deficiency	Cataract, Short nose, Microphthalmia	OMIM:614105
Familial Mediterranean Fever	Diarrhea, Acute hepatic failure, Nausea and vomiting, Intestinal obstruction, Arrhythmia, Meningi...	ORPHA:342
Aprosencephaly Syndrome	Aprosencephaly, Anencephaly	OMIM:207770
Pigmented Nodular Adrenocortical Disease, Primary, 4	Alopecia, Depression, Bruising susceptibility, Adrenal hyperplasia, Hirsutism, Hypertension, Acne	OMIM:615830
Jalili Syndrome	Carious teeth, Yellow-brown discoloration of the teeth, Visual impairment, Scotoma, Attenuation o...	OMIM:217080
Methanol Poisoning	Diarrhea, Vomiting, Blindness, Permanent atrial fibrillation, Blurred vision, Inflammatory arteri...	ORPHA:31825
Aniridia 3	Cataract, Aniridia	OMIM:617142
Hypoglossia With Situs Inversus	Microglossia, Micrognathia, Narrow mouth, Hypodontia, High palate	OMIM:612776
Congenital Bile Acid Synthesis Defect Type 4	Cholestatic liver disease, Giant cell hepatitis, Cholelithiasis, Cataract, Homonymous hemianopia,...	ORPHA:79095
Hypocalcemic Vitamin D-Dependent Rickets	Subperiosteal bone resorption, Hypochromic anemia, Delayed eruption of teeth, Cardiomyopathy, Enl...	ORPHA:289157
3Q29 Microduplication Syndrome	Wide nasal bridge, Cataract, Aniridia, Microphthalmia, Sclerocornea, Iris coloboma	ORPHA:251038
Amyloidosis, Hereditary Systemic 1	Spasticity, Spastic paraparesis, Diarrhea, Hearing impairment, Paraplegia, High myopia, Positive ...	OMIM:105210
Tetraamelia Syndrome 2	Microretrognathia, Ankyloglossia, Micrognathia, Bilateral cleft lip, Glossoptosis, Cleft palate	OMIM:618021
Congenital Disorder Of Glycosylation, Type Im	Alopecia, Inflammatory abnormality of the skin, Sparse eyebrow, Dilated cardiomyopathy, Diarrhea,...	OMIM:610768
Congenital Hyperinsulinism Due To Hnf4A Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Vomiting, Elevated circulating...	ORPHA:263455
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Depressed nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Malar flattening, Sinu...	OMIM:242860
Familial Papillary Thyroid Carcinoma With Renal Papillary Neoplasia	Abnormal lymph node morphology, Goiter, Chronic noninfectious lymphadenopathy, Nodular goiter, Co...	ORPHA:97290
Joubert Syndrome With Ocular Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Feeding difficulties, Visual loss, Trem...	ORPHA:220493
Squamous Cell Carcinoma Of The Anal Canal	Intestinal bleeding, Anal stenosis, Neoplasm of the liver, Neoplasm of the rectum, Anal canal squ...	ORPHA:424019
Telangiectasia, Hereditary Hemorrhagic, Type 1	Pulmonary hemorrhage, Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, High-output c...	OMIM:187300
Feingold Syndrome 1	Low-set ears, Hearing impairment, Micrognathia, Epicanthus, Everted lower lip vermilion, Blepharo...	OMIM:164280
Retinitis Pigmentosa 40	Cataract, Attenuation of retinal blood vessels, Nyctalopia	OMIM:613801
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Early satiety, Diarrhea, Increased circulating IgE level, Eosinophilic infiltration of the esopha...	OMIM:147060
Classical-Like Ehlers-Danlos Syndrome Type 1	Gastrointestinal hemorrhage, Bruising susceptibility, Arrhythmia	ORPHA:230839
Craniometaphyseal Dysplasia, Autosomal Recessive	Flared metaphysis, Facial hyperostosis, Delayed eruption of permanent teeth, Telecanthus, Patchy ...	OMIM:218400
Autoinflammatory Syndrome, Familial, Behcet-Like 1	Lymphopenia, Chorea, Skin rash, Oral ulcer, Thrombocytopenia, Ileal ulcer, Colitis, Hemolytic ane...	OMIM:616744
Trichohepatoenteric Syndrome 2	Sparse hair, Diarrhea, Trichorrhexis nodosa, Chronic hepatitis, Villous atrophy, Chronic diarrhea...	OMIM:614602
Gamma-Heavy Chain Disease	Rheumatoid arthritis, Abnormal lymphocyte morphology, Skin rash, Abnormal palate morphology, Sple...	ORPHA:100026
Neurodevelopmental Disorder With Neuromuscular And Skeletal Abnormalities	Plagiocephaly, Periventricular heterotopia, Periventricular leukomalacia, Microcephaly, Colpoceph...	OMIM:619833
Hereditary Hemorrhagic Telangiectasia	Nasal mucosa telangiectasia, Telangiectasia, Cirrhosis, Esophageal varix, Retinal telangiectasia,...	ORPHA:774
Ectodermal Dysplasia 15, Hypohidrotic/Hair Type	Palmoplantar keratoderma, Eczematoid dermatitis, Sparse body hair, Sparse eyelashes, Hypohidrosis...	OMIM:618535
Neurodevelopmental Disorder With Hypotonia, Facial Dysmorphism, And Brain Abnormalities	Cerebellar vermis hypoplasia, Plagiocephaly, Gait ataxia, Hypoplasia of the corpus callosum, Atte...	OMIM:619383
Alopecia Totalis	Inflammation of the large intestine, Alopecia totalis, Alopecia of scalp, Onycholysis, Trachyonyc...	ORPHA:700
Chromosome Xq21 Deletion Syndrome	Conductive hearing impairment, Progressive sensorineural hearing impairment, Hearing impairment, ...	OMIM:303110
Bosma Arhinia Microphthalmia Syndrome	Absent tragus, Cataract, Cleft lip, Conductive hearing impairment, Atresia of the external audito...	OMIM:603457
Duodenal Ulcer, Hyperpepsinogenemic I	Duodenal ulcer	OMIM:126850
Osteoglophonic Dysplasia	Low-set ears, Broad thumb, Cryptorchidism, Bowing of the long bones, Chordee, Broad phalanx, High...	OMIM:166250
Immunodeficiency 87 And Autoimmunity	Elevated gamma-glutamyltransferase level, Recurrent viral infections, Cholestasis, Lymphopenia, D...	OMIM:619573
Prothrombin Deficiency, Congenital	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Ecchymosis, P...	OMIM:613679
Osteogenesis Imperfecta	Carious teeth, Hearing impairment, Tetraparesis, Abnormal tibia morphology, Micrognathia, Genu va...	ORPHA:666
Cataracts, Hearing Impairment, Nephrotic Syndrome, And Enterocolitis 1	Cataract, Microphthalmia	OMIM:301108
Acyl-Coa Dehydrogenase, Very Long-Chain, Deficiency Of	Periportal fibrosis, Gastroesophageal reflux, Hepatocellular necrosis, Hypertrophic cardiomyopath...	OMIM:201475
Sandestig-Stefanova Syndrome	Wide nasal bridge, Developmental cataract, Microphthalmia	OMIM:618804
Retinitis Pigmentosa 11	Constriction of peripheral visual field, Blindness, Reduced visual acuity, Nyctalopia	OMIM:600138
Developmental And Epileptic Encephalopathy 65	Microcephaly, Plagiocephaly, Cerebellar atrophy, Cerebral atrophy	OMIM:618008
Williams-Beuren Syndrome	Small nail, Premature graying of hair, Recurrent otitis media, Incoordination, Open mouth, Mitral...	OMIM:194050
Classic Progressive Supranuclear Palsy Syndrome	Blepharospasm, Neuromuscular dysphagia, Progressive extrapyramidal muscular rigidity, Axial dysto...	ORPHA:240071
Short Stature, Dauber-Argente Type	Delayed eruption of teeth, Decreased fibular diameter, Arachnodactyly, Long toe, Long fingers	OMIM:619489
Hypocalcemic Vitamin D-Resistant Rickets	Coarse metaphyseal trabecularization, Osteomalacia, Recurrent fractures, Bone cyst, Osteolysis, A...	ORPHA:93160
Opitz Gbbb Syndrome	Low-set ears, Natal tooth, Hearing impairment, Ankyloglossia, Micrognathia, Cryptorchidism, Feedi...	ORPHA:2745
Congenital Disorder Of Glycosylation, Type Ia	Diarrhea, Hepatic steatosis, Feeding difficulties in infancy, Ataxia, Hepatomegaly, Premature ova...	OMIM:212065
Retinitis Pigmentosa 20	Nyctalopia, Attenuation of retinal blood vessels, Visual impairment, Severely reduced visual acuity	OMIM:613794
Bryant-Li-Bhoj Neurodevelopmental Syndrome 1	Cerebral cortical atrophy, Cerebellar vermis hypoplasia, Plagiocephaly, Agenesis of corpus callos...	OMIM:619720
Primary Myelofibrosis	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Extramedullary hema...	ORPHA:824
Ptosis-Upper Ocular Movement Limitation-Absence Of Lacrimal Punctum Syndrome	Hypoplasia of the maxilla, Microretrognathia, Long philtrum, Anteverted nares, Thick vermilion bo...	ORPHA:228396
Orofaciodigital Syndrome Type 6	Cerebellar vermis hypoplasia, Broad nasal tip, Midline notch of upper alveolar ridge, Aplasia/Hyp...	ORPHA:2754
Vitamin D Hydroxylation-Deficient Rickets, Type 1B	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:600081
Adenohypophysitis	Secondary growth hormone deficiency, Increased circulating prolactin concentration, Panhypopituit...	ORPHA:95512
Very Long Chain Acyl-Coa Dehydrogenase Deficiency	Pneumonia, Atrioventricular block, Inflammatory abnormality of the skin, Elevated circulating hep...	ORPHA:26793
Dysosteosclerosis	Short diaphyses, Natal tooth, Absent paranasal sinuses, Hearing impairment, Delayed eruption of t...	OMIM:224300
Marbach-Schaaf Neurodevelopmental Syndrome	Short palpebral fissure, Hemidystonia, Downturned corners of mouth, Recurrent otitis media, Speec...	OMIM:619680
Newfoundland Rod-Cone Dystrophy	Color vision defect, Scotoma, Central scotoma, Reduced visual acuity, Nyctalopia, Ring scotoma	OMIM:607476
Von Willebrand Disease, Type 1	Aortic valve stenosis, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Prolonged...	OMIM:193400
Rabson-Mendenhall Syndrome	Recurrent infections, Abnormality of the dentition, Dental crowding, Cardiomyopathy, Hypertrichos...	ORPHA:769
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Cessation of head growth, Mandibular prognathia, Widely spaced teeth, Secondary microcephaly, Pro...	ORPHA:98795
Carnitine Palmitoyltransferase Ii Deficiency, Infantile	Elevated circulating hepatic transaminase concentration, Increased circulating lactate dehydrogen...	OMIM:600649
Tooth Agenesis, Selective, 3	Oligodontia of primary teeth, Abnormal fingernail morphology, Abnormal hair morphology, Agenesis ...	OMIM:604625
Mu-Heavy Chain Disease	Abnormal B cell count, Splenomegaly, Increased circulating antibody level, Hepatomegaly, Lymphade...	ORPHA:100024
Monilethrix	Alopecia, Nail dystrophy, Nail dysplasia, Brittle hair, Abnormality of hair texture, Sparse hair	OMIM:158000
Retinitis Pigmentosa 73	Color vision defect, Constriction of peripheral visual field, Blurred vision, Central scotoma, Vi...	OMIM:616544
Axenfeld-Rieger Anomaly With Partially Absent Eye Muscles, Distinctive Face, Hydrocephaly, And Skeletal Abnormalities	Proptosis, Brachycephaly, Hypertelorism, Agenesis of corpus callosum	OMIM:109120
Congenital Factor X Deficiency	Gingival bleeding, Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Spontaneous h...	ORPHA:328
Intellectual Developmental Disorder, X-Linked 1	Secondary microcephaly, Brachycephaly	OMIM:309530
Pycr2-Related Microcephaly-Progressive Leukoencephalopathy	Hypoplasia of the maxilla, Global brain atrophy, Long philtrum, Hypoplasia of the brainstem, Bulb...	ORPHA:481152
Infantile Neuroaxonal Dystrophy	Spasticity, Increased circulating lactate dehydrogenase concentration, Aspiration pneumonia, Blin...	ORPHA:35069
Warburg Micro Syndrome 2	Cataract, Microcornea, Developmental cataract, Microphthalmia, Short nose	OMIM:614225
Osteopetrosis, Autosomal Recessive 8	Osteopetrosis	OMIM:615085
Mowat-Wilson Syndrome Due To Monosomy 2Q22	Aortic valve stenosis, Tooth malposition, Spasticity, Recurrent otitis media, Long hallux, Genu v...	ORPHA:261537
Angelman Syndrome Due To A Point Mutation	Cessation of head growth, Mandibular prognathia, Widely spaced teeth, Secondary microcephaly, Pro...	ORPHA:411511
Tyrosinemia, Type I	Hepatic failure, Elevated circulating hepatic transaminase concentration, Gastrointestinal hemorr...	OMIM:276700
Hereditary Hypophosphatemic Rickets With Hypercalciuria	Pathologic fracture, Hypophosphatemic rickets, Reduced bone mineral density, Osteomalacia	ORPHA:157215
Morm Syndrome	Cataract, Visual impairment, Progressive night blindness	ORPHA:75858
Gabriele-De Vries Syndrome	Low-set ears, Oral-pharyngeal dysphagia, Micrognathia, Frontal upsweep of hair, Cryptorchidism, F...	ORPHA:506358
Multiple Endocrine Neoplasia Type 1	Diarrhea, Pituitary prolactin cell adenoma, Shortened QT interval, Pituitary thyrotropic cell ade...	ORPHA:652
Arrhinia-Choanal Atresia-Microphthalmia Syndrome	Microphthalmia	ORPHA:1135
Osteoporosis-Pseudoglioma Syndrome	Abnormal lower limb bone morphology, Congenital blindness, Visual acuity light perception with pr...	ORPHA:2788
Cornelia De Lange Syndrome 2	Microcephaly, Brachycephaly, Cognitive impairment	OMIM:300590
Retinitis Pigmentosa 18	Scotoma, Progressive visual field defects, Retinal arteriolar constriction, Nyctalopia	OMIM:601414
Robinow Syndrome	Low-set ears, Tooth malposition, Small nail, Ankyloglossia, Micrognathia, Marked delay in eruptio...	ORPHA:97360
Renal Tubular Acidosis, Distal, 3, With Or Without Sensorineural Hearing Loss	Rickets	OMIM:602722
Congenital Heart Defects And Ectodermal Dysplasia	Brachycephaly, Attention deficit hyperactivity disorder, Frontal bossing, Microcephaly	OMIM:617364
Combined Immunodeficiency-Enteropathy Spectrum	Peritoneal abscess, Abdominal distention, Hepatitis, Jejunoileal ulceration, Intestinal malrotati...	ORPHA:436252
Autoimmune Polyendocrinopathy Type 2	Alopecia, Hypogonadism, Hashimoto thyroiditis, Hypoparathyroidism, Celiac disease	ORPHA:3143
Optic Pathway Glioma	Vomiting, Vertigo, Blindness, Visual loss, Visual field defect, Reduced visual acuity, Nausea	ORPHA:2086
Prune1-Related Neurological Syndrome	Plagiocephaly, Cerebellar atrophy, Cerebral atrophy, Microcephaly, Thin corpus callosum	ORPHA:544469
Intellectual Developmental Disorder, Autosomal Dominant 26	Microcephaly, Brachycephaly, Proptosis, Hypertelorism	OMIM:615834
Primary Sclerosing Cholangitis	Cholangiocarcinoma, Hepatocellular carcinoma, Celiac disease, Neoplasm of the gallbladder, Ulcera...	ORPHA:171
Chopra-Amiel-Gordon Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Microcephaly, Deeply set eye	OMIM:619504
Usher Syndrome, Type Iid	Abnormal vestibular function, Hearing impairment, Nyctalopia	OMIM:611383
Leukodystrophy, Hypomyelinating, 13	Joint contracture, Exaggerated startle response	OMIM:616881
Clark-Baraitser Syndrome	Dolichocephaly, Brachycephaly, Microcephaly, Hypertelorism	OMIM:617752
Familial Exudative Vitreoretinopathy	Cataract, Hearing impairment, Blindness, Vitreous floaters, Reduced visual acuity, Vitreous hemor...	ORPHA:891
Meckel Syndrome, Type 1	Low-set ears, Postaxial foot polydactyly, Natal tooth, Clinodactyly, Micrognathia, Cryptorchidism...	OMIM:249000
Vacterl With Hydrocephalus	Microcornea, Anophthalmia, Microphthalmia	ORPHA:3412
Craniofrontonasal Dysplasia	Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Hypertelorism, Cra...	ORPHA:1520
Canavan Disease	Gastroesophageal reflux, Hearing impairment, Blindness, Feeding difficulties in infancy, Hyperton...	ORPHA:141
Microcephalic Primordial Dwarfism-Insulin Resistance Syndrome	Malar prominence, Congenital blindness, Micrognathia, Hepatic steatosis	ORPHA:436182
Developmental And Epileptic Encephalopathy 8	Exaggerated startle response	OMIM:300607
Odontochondrodysplasia	Dentinogenesis imperfecta, Micromelia, Delayed eruption of teeth, Retrognathia, Bowing of the lon...	ORPHA:166272
Maple Syrup Urine Disease, Type Ia	Vomiting, Reduced branched-chain alpha-keto acid dehydrogenase activity in cultured fibroblasts, ...	OMIM:248600
Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities	Hypertrichosis, Advanced eruption of teeth, Onychauxis, High palate, Mandibular prognathia	OMIM:262190
Aniridia And Absent Patella	Cataract, Aniridia	OMIM:106220
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue	ORPHA:2743
Idiopathic Hypereosinophilic Syndrome	Inflammatory abnormality of the skin, Swelling of proximal interphalangeal joints, Hepatosplenome...	ORPHA:3260
Congenital Muscular Dystrophy, Fukuyama Type	Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Type II lissencephaly, Brachycephaly, D...	ORPHA:272
Granulomatous Disease, Chronic, Autosomal Recessive, 1	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233700
Granulomatous Disease, Chronic, Autosomal Recessive, 2	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233710
Thoraco-Abdominal Enteric Duplication	Intestinal malrotation, Duodenal stenosis	ORPHA:1759
Hutchinson-Gilford Progeria Syndrome	Alopecia, Congestive heart failure, Micrognathia, Malar flattening, Angina pectoris, Myocardial i...	OMIM:176670
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies	Alopecia, Downturned corners of mouth, Intestinal malrotation, Hypoplasia of eyelid, Decreased te...	OMIM:619321
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Retrognathia, Cerebral atrophy, Furrowed tongue, Anteverted nares, Tented up...	ORPHA:464738
Histiocytoid Cardiomyopathy	Junctional ectopic tachycardia, Megalocornea, Polycystic ovaries, Hepatomegaly, Tachycardia, Corn...	ORPHA:137675
Saul-Wilson Syndrome	Cataract, Short distal phalanx of finger, Pseudoepiphyses of the metacarpals, Hearing impairment,...	OMIM:618150
Harrod Syndrome	Cataract, Dental malocclusion, Narrow mouth, Cryptorchidism, Protruding ear, Arachnodactyly, High...	ORPHA:2115
Cone-Rod Dystrophy, X-Linked, 1	Color vision defect, Reduced visual acuity, Nyctalopia, Myopia, Visual impairment, Photophobia	OMIM:304020
Joubert Syndrome With Renal Defect	Highly arched eyebrow, Low-set, posteriorly rotated ears, Feeding difficulties, Tremor, Aganglion...	ORPHA:220497
Corticosteroid-Sensitive Aseptic Abscess Syndrome	Neutrophilia, Elevated circulating hepatic transaminase concentration, Brain abscess, Diarrhea, A...	ORPHA:54251
Anti-Glomerular Basement Membrane Disease	Vasculitis, Persistence of primary teeth, Arthritis, Anemia, Purpura	ORPHA:375
Dermatomyositis	Abnormal eosinophil morphology, Arrhythmia, Feeding difficulties in infancy, Dysphagia, Abnormali...	ORPHA:221
Granulomatous Disease, Chronic, Autosomal Recessive, 4	Discoid lupus rash, Recurrent pneumonia, Recurrent Klebsiella infections, Lymphadenitis, Eczemato...	OMIM:233690
Microphthalmia, Syndromic 11	Microphthalmia	OMIM:614402
Syndromic Diarrhea	Lymphopenia, Hepatoblastoma, Cirrhosis, Brittle hair, Hepatomegaly, Patent ductus arteriosus, Aor...	ORPHA:84064
Retinitis Pigmentosa	Keratoconus, Posterior subcapsular cataract, Conductive hearing impairment, Hypogonadism, Attenua...	ORPHA:791
Hypophosphatemic Rickets With Hypercalciuria, Hereditary	Delayed epiphyseal ossification, Rickets, Hypophosphatemic rickets, Sparse bone trabeculae, Thin ...	OMIM:241530
American Trypanosomiasis	Diarrhea, Cardiomyopathy, Congestive heart failure, Splenomegaly, Skin rash, Infectious encephali...	ORPHA:3386
Retinitis Pigmentosa 62	Visual field defect, Reduced visual acuity, Attenuation of retinal blood vessels, Nyctalopia	OMIM:614181
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Cryptococcosis	Pneumonia, Abnormality of the outer ear, Abnormality of vision, Sepsis, Vomiting, Osteomyelitis, ...	ORPHA:1546
Acromelic Frontonasal Dysplasia	Hypopituitarism, Agenesis of corpus callosum, Brachycephaly, Anterior pituitary hypoplasia, Hyper...	ORPHA:1827
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Abnormality of frontal sinus, Underdeveloped nasal alae, Micrognathia, Abnor...	ORPHA:436003
Limbal Stem Cell Deficiency	Blepharospasm, Corneal perforation, Opacification of the corneal epithelium, Keratitis, Corneal s...	ORPHA:171673
Pelvis-Shoulder Dysplasia	Opacification of the corneal stroma, Iris coloboma, Microphthalmia	OMIM:169550
Joubert Syndrome	Low-set ears, Highly arched eyebrow, Tremor, Aganglionic megacolon, Orofacial cleft, Ptosis, Hand...	ORPHA:475
Neuroendocrine Tumor Of The Rectum	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100081
Neuroendocrine Tumor Of Anal Canal	Hematochezia, Hypotension, Elevated circulating hepatic transaminase concentration, Right ventric...	ORPHA:100082
Acute Liver Failure	Diarrhea, Incoordination, Ataxia, Jaundice, Slurred speech, Pain insensitivity, Gastrointestinal ...	ORPHA:90062
Autosomal Dominant Hypophosphatemic Rickets	Rickets, Osteomalacia	ORPHA:89937
Three M Syndrome 2	Short 5th finger, Dental malocclusion, Delayed eruption of teeth, Long philtrum, Clinodactyly, Ma...	OMIM:612921
Marbach-Rustad Progeroid Syndrome	Eruption failure, Micrognathia, Narrow mouth, Delayed eruption of primary teeth, Hypodontia, Smoo...	OMIM:619322
Asparagine Synthetase Deficiency	Gastroesophageal reflux, Feeding difficulties, Micrognathia, Blindness, Tremor, Simple ear, Clonu...	OMIM:615574
Multiple Mitochondrial Dysfunctions Syndrome 7	Decreased liver function, Feeding difficulties, Gingival overgrowth, Open mouth, Cyanosis, Myoclo...	OMIM:620423
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Aplasia/Hypoplasia involving the nose, Narrow mouth, Agenesis of corpus callosum, A...	ORPHA:990
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Hypoplasia of the maxilla, Hypoplasia of the z...	ORPHA:193
Odontochondrodysplasia 1	Mesomelia, Dentinogenesis imperfecta, Metaphyseal cupping, Delayed eruption of teeth, Long philtr...	OMIM:184260
Marshall-Smith Syndrome	Choanal atresia, Retrognathia, Anteverted nares, Gingival overgrowth, Open mouth, Protruding tong...	ORPHA:561
Neuronal Intestinal Pseudoobstruction	Natal tooth, Malabsorption, Recurrent infections, Decreased circulating antibody level, Patent du...	ORPHA:99811
Mhc Class Ii Deficiency 1	Recurrent viral infections, Protracted diarrhea, Neutropenia, Recurrent lower respiratory tract i...	OMIM:209920
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Camurati-Engelmann Disease	Carious teeth, Hearing impairment, Abnormal tibia morphology, Genu valgum, Feeding difficulties i...	ORPHA:1328
Cat Eye Syndrome	Low-set ears, Anal stenosis, Meckel diverticulum, Hearing impairment, Volvulus, Downslanted palpe...	OMIM:115470
Classic Phenylketonuria	Cataract, Depression, Eczematoid dermatitis, Hemiplegia, Paraplegia, Nausea and vomiting, Tremor,...	ORPHA:79254
Caroli Disease	Elevated gamma-glutamyltransferase level, Cholestasis, Elevated circulating alkaline phosphatase ...	ORPHA:53035
Renal Tubular Acidosis, Distal, 1	Pathologic fracture, Osteomalacia	OMIM:179800
Immunoneurologic Disorder, X-Linked	Spastic paraplegia, Decreased circulating IgG2 level, Nyctalopia, Neonatal death	OMIM:300076
Microphthalmia/Coloboma 12	Optic nerve aplasia, Peters anomaly, Corneal opacity, Microphthalmia	OMIM:120200
Carnitine Palmitoyl Transferase 1A Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypertrophic cardiomyop...	ORPHA:156
Retinitis Pigmentosa 1	Scotoma, Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced v...	OMIM:180100
Pseudo-Torch Syndrome 2	Elevated circulating hepatic transaminase concentration, Cerebral hemorrhage, Petechiae, Lethargy...	OMIM:617397
Melnick-Needles Syndrome	Tooth malposition, Recurrent otitis media, Micrognathia, Genu valgum, Talipes equinovarus, Cone-s...	OMIM:309350
Mitochondrial Trifunctional Protein Deficiency	Cardiomyopathy, Congestive heart failure, Cholestasis, Tricuspid regurgitation, Poor suck, Equinu...	ORPHA:746
Coccidioidomycosis	Hearing impairment, Morbilliform rash, Abnormality of the spleen, Abscess, Abnormal metacarpal mo...	ORPHA:228123
Holoprosencephaly-Craniosynostosis Syndrome	Plagiocephaly, Hypotelorism, Microcephaly, Brachycephaly, Cognitive impairment, Craniosynostosis	ORPHA:2163
Primary Hepatic Neuroendocrine Carcinoma	Elevated gamma-glutamyltransferase level, Diarrhea, Reduced visual acuity, Abdominal distention, ...	ORPHA:100085
Immunodeficiency 99 With Hypogammaglobulinemia And Autoimmune Cytopenias	Decreased proportion of CD4+CD25+ regulatory T cells, Lymphopenia, Decreased circulating antibody...	OMIM:619846
Pseudomyxoma Peritonei	Inflammation of the large intestine, Nausea and vomiting, Intestinal obstruction, Constipation, L...	ORPHA:26790
Fraser Syndrome	Abnormality of the outer ear, Toe syndactyly, Atresia of the external auditory canal, Finger synd...	ORPHA:2052
Cerebrooculonasal Syndrome	Iris coloboma, Anophthalmia, Short nose, Optic nerve hypoplasia	OMIM:605627
Polyendocrine-Polyneuropathy Syndrome	Alopecia, Progressive hearing impairment, Decreased testicular size, Hypogonadotropic hypogonadis...	ORPHA:453533
Mitochondrial Myopathy-Cerebellar Ataxia-Pigmentary Retinopathy Syndrome	Depression, Hearing impairment, Increased circulating prolactin concentration, Somatic sensory dy...	ORPHA:502423
Alternating Hemiplegia Of Childhood	Diarrhea, Oral-pharyngeal dysphagia, Tetraparesis, Arrhythmia, Abnormal pyramidal sign, Ataxia, A...	ORPHA:2131
Nager Syndrome	Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Micrognathia, Abnormal palate morpho...	ORPHA:245
Wolfram Syndrome 1	Cataract, Hearing impairment, Limited mobility of proximal interphalangeal joint, Cardiomyopathy,...	OMIM:222300
Multiple Mitochondrial Dysfunctions Syndrome 1	Facial paralysis, Myoclonus, Abnormality of extrapyramidal motor function, Neonatal death, Opisth...	OMIM:605711
Deafness, Congenital, With Inner Ear Agenesis, Microtia, And Microdontia	Conical tooth, Microtia, first degree, Widely spaced teeth, Aplasia of the inner ear, Peg-shaped ...	OMIM:610706
Bleeding Disorder, Platelet-Type, 17	Epistaxis, Gastrointestinal hemorrhage, Increased RBC distribution width, Bruising susceptibility...	OMIM:187900
Ring Chromosome 22 Syndrome	Wide nasal base, Bulbous nose, Absent septum pellucidum, Protruding tongue, Agenesis of corpus ca...	ORPHA:1446
Usher Syndrome, Type Iv	Abnormal vestibular function, Progressive sensorineural hearing impairment, Constriction of perip...	OMIM:618144
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities	Cerebellar atrophy, Focal polymicrogyria, Dysplastic corpus callosum, Microcephaly, Attention def...	OMIM:619103
Autosomal Recessive Spinocerebellar Ataxia-Blindness-Deafness Syndrome	Hearing impairment, Cochlear degeneration, Head tremor, Blindness, Gait ataxia, Impaired vibratio...	ORPHA:95433
Choroideremia	Abnormality of vision, Progressive visual loss, Nyctalopia, Myopia, Visual impairment	ORPHA:180
Neurodevelopmental Disorder With Cataracts, Poor Growth, And Dysmorphic Facies	Wide nasal bridge, Cataract, Astigmatism, Microphthalmia, Short nose	OMIM:618571
Glycine Encephalopathy With Normal Serum Glycine	Elbow flexion contracture, Hip contracture, Joint hypermobility, Exaggerated startle response, Fl...	OMIM:617301
Riboflavin Deficiency	Lethargy, Poor suck	OMIM:615026
Thrombophilia Due To Protein S Deficiency, Autosomal Recessive	Pulmonary embolism, Blindness, Cerebral hemorrhage, Anemia, Purpura	OMIM:614514
Immunodeficiency 54	Reduced natural killer cell count, Recurrent viral infections, Splenomegaly, Adrenocorticotropic ...	OMIM:609981
Galloway-Mowat Syndrome 4	Plagiocephaly, Cerebral atrophy, Polymicrogyria, Cerebellar hypoplasia, Primary microcephaly, Hyp...	OMIM:617730
Pentasomy X	Microcephaly, Plagiocephaly, Hypertelorism	ORPHA:11
Wolfram Syndrome, Mitochondrial Form	Sideroblastic anemia, Blindness, Sensorineural hearing impairment, Megaloblastic anemia, Neutrope...	OMIM:598500
Neurooculocardiogenitourinary Syndrome	Peters anomaly, Microphthalmia	OMIM:618652
Ring Chromosome 10 Syndrome	Wide nasal bridge, Microphthalmia	ORPHA:1438
Gaze Palsy, Familial Horizontal, With Progressive Scoliosis 1	Cerebellar hypoplasia, Plagiocephaly, Hypoplasia of the pons	OMIM:607313
Alopecia-Intellectual Disability Syndrome 4	Alopecia, Erythroderma, Bilateral cryptorchidism	OMIM:618840
Hennekam Lymphangiectasia-Lymphedema Syndrome 3	Protein-losing enteropathy, Upslanted palpebral fissure, Hydrocele testis, Feeding difficulties, ...	OMIM:618154
Beare-Stevenson Cutis Gyrata Syndrome	Bifid uvula, Narrow palate, Natal tooth, Atresia of the external auditory canal, Small nail, Hypo...	OMIM:123790
Macrophage Activation Syndrome	Increased circulating lactate dehydrogenase concentration, Hemophagocytosis, Hepatitis, Decreased...	ORPHA:158061
Splenogonadal Fusion-Limb Defects-Micrognathia Syndrome	Tooth agenesis, Abnormality of the wrist, Micrognathia, Abnormal femur morphology, Cryptorchidism...	ORPHA:2063
Wolfram Syndrome	Male hypogonadism, Gastrointestinal hemorrhage, Cardiomyopathy, Recurrent urinary tract infection...	ORPHA:3463
Argininosuccinic Aciduria	Hepatic fibrosis, Dry hair, Vomiting, Trichorrhexis nodosa, Elevated circulating aspartate aminot...	OMIM:207900
Encephalocraniocutaneous Lipomatosis	Alopecia, Hypoplasia of the iris, Eyelid coloboma, Cryptorchidism, Sclerocornea, Limbal dermoid	OMIM:613001
Branchiootic Syndrome	Branchial fistula	ORPHA:52429
Papa Syndrome	Crohn's disease, Increased inflammatory response, Pustule, Myositis, Increased circulating antibo...	ORPHA:69126
Leber Congenital Amaurosis 9	Keratoconus, Color vision defect, Ultra-low vision, Attenuation of retinal blood vessels, Ultra-l...	OMIM:608553
Hyperekplexia 2	Exaggerated startle response	OMIM:614619
X-Linked Cerebral Adrenoleukodystrophy	Male hypogonadism, Limb myoclonus, Hearing impairment, Nasogastric tube feeding, Blindness, Dysme...	ORPHA:139396
Neurodevelopmental Disorder With Dysmorphic Facies And Skeletal And Brain Abnormalities	Cerebellar vermis hypoplasia, Secondary microcephaly, Hypoplasia of the corpus callosum, Agenesis...	OMIM:620073
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 12	Cataract, Abnormally large globe, Microphthalmia	OMIM:615249
Cone-Rod Dystrophy 12	Color vision defect, Reduced visual acuity, Central scotoma, Nyctalopia	OMIM:612657
Cone-Rod Dystrophy 15	Color vision defect, Constriction of peripheral visual field, Attenuation of retinal blood vessel...	OMIM:613660
Frontorhiny	Hypoplasia of the maxilla, Aplasia/Hypoplasia of the corpus callosum, Hypoplastic frontal sinuses...	ORPHA:391474
Bile Acid Synthesis Defect, Congenital, 3	Hepatic bridging fibrosis, Intrahepatic cholestasis, Hepatic failure, Hematochezia, Diarrhea, Hep...	OMIM:613812
Central Diabetes Insipidus	Diarrhea, Depression, Nausea and vomiting, Lethargy, Anorexia	ORPHA:178029
Cushing Syndrome Due To Bilateral Macronodular Adrenocortical Disease	Irregular menstruation, Mania, Alopecia, Depression, Pituitary adenoma, Bruising susceptibility, ...	ORPHA:189427
Cataract 47	Cataract, Microcornea	OMIM:612018
Hyperlysinuria With Hyperammonemia	Lethargy, Malabsorption	OMIM:238750
Spondyloenchondrodysplasia With Immune Dysregulation	Low-set ears, Spasticity, Rheumatoid arthritis, Recurrent otitis media, Lymphopenia, Progressive ...	OMIM:607944
Olmsted Syndrome 1	Alopecia universalis, Subungual hyperkeratosis, Palmoplantar keratoderma, Autoamputation of digit...	OMIM:614594
Microphthalmia-Brain Atrophy Syndrome	Vomiting, Spasticity, Blindness	ORPHA:77299
Immunoglobulin A Vasculitis	Vasculitis, Gastrointestinal hemorrhage, Bruising susceptibility, Gastrointestinal infarctions, E...	ORPHA:761
Angelman Syndrome	Cerebral cortical atrophy, Hypoplasia of the maxilla, Mandibular prognathia, Widely spaced teeth,...	OMIM:105830
Megalencephaly-Capillary Malformation-Polymicrogyria Syndrome	Microphthalmia	OMIM:602501
Retinitis Pigmentosa 61	Attenuation of retinal blood vessels, Visual impairment, Nyctalopia	OMIM:614180
Atypical Werner Syndrome	Aortic valve stenosis, Premature graying of hair, Abnormal hair morphology, Sparse body hair, Neo...	ORPHA:79474
Retinitis Pigmentosa 54	Attenuation of retinal blood vessels, Visual impairment, Nyctalopia	OMIM:613428
Congenital Disorder Of Glycosylation, Type Iie	Retrognathia, Cerebral atrophy, Micrognathia, Narrow mouth, Protruding tongue, Death in infancy, ...	OMIM:608779
Retinitis Pigmentosa 32	Photophobia, Reduced visual acuity, Attenuation of retinal blood vessels, Nyctalopia	OMIM:609913
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Microphthalmia	OMIM:612379
Retinitis Pigmentosa 30	Attenuation of retinal blood vessels, Visual impairment, Nyctalopia	OMIM:607921
Insulin-Resistance Syndrome Type B	Pneumonia, Nephritis, Alopecia, Biliary cirrhosis, Leukopenia, Skin rash, Hirsutism, Polycystic o...	ORPHA:2298
Intellectual Developmental Disorder, Autosomal Recessive 38	Diminished ability to concentrate, Plagiocephaly	OMIM:615516
Cystinosis, Nephropathic	Male hypogonadism, Corneal crystals, Exocrine pancreatic insufficiency, Genu valgum, Blindness, S...	OMIM:219800
Retinitis Pigmentosa 78	Visual field defect, Reduced visual acuity, Photopsia, Nyctalopia	OMIM:617433
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Spondyloepiphyseal Dysplasia With Congenital Joint Dislocations	Aortic valve stenosis, Hearing impairment, Elbow dislocation, Genu valgum, Bilateral single trans...	OMIM:143095
Mucopolysaccharidosis Type 2	Sensorineural hearing impairment, Arrhythmia, Hepatomegaly, Peripheral visual field loss, Corneal...	ORPHA:580
Paroxysmal Hemicrania	Nausea and vomiting, Conjunctival hyperemia, Ptosis, Palpebral edema, Rhinitis, Hypertension, Pho...	ORPHA:157835
Aminopterin Syndrome Sine Aminopterin	Microcephaly, Brachycephaly, Hypertelorism, Frontal bossing, Megalencephaly	OMIM:600325
Cholestasis, Progressive Familial Intrahepatic, 1	Osteopenia, Rickets	OMIM:211600
Neuroendocrine Tumor Of The Colon	Hypotension, Elevated circulating hepatic transaminase concentration, Right ventricular failure, ...	ORPHA:100080
Orofaciodigital Syndrome Type 3	Cerebellar vermis hypoplasia, Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Bul...	ORPHA:2752
Systemic Mastocytosis With Associated Hematologic Neoplasm	Diarrhea, Chronic lymphatic leukemia, Acute myeloid leukemia, Neutrophilia, Hepatomegaly, Tachyca...	ORPHA:98849
Ataxia With Vitamin E Deficiency	Hypertrophic cardiomyopathy, Dysmetria, Hemiplegia/hemiparesis, Tremor, Arrhythmia, Abnormal pyra...	ORPHA:96
Mandibuloacral Dysplasia With Type A Lipodystrophy	Short distal phalanx of finger, Alopecia, Dental crowding, Premature loss of teeth, Elbow flexion...	OMIM:248370
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Widely spaced teeth, Wide mouth, Myoclonus, Protruding tongue, Tremor, Con...	ORPHA:98794
Retinitis Pigmentosa 19	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:601718
Cerebellar Ataxia-Hypogonadism Syndrome	Dementia, Brachycephaly, Ataxia	ORPHA:1173
Transcobalamin Ii Deficiency	Ataxia, Decreased circulating IgG level, Diarrhea, Vomiting, Pancytopenia, Decreased circulating ...	OMIM:275350
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 5	Lethargy, Dilated cardiomyopathy	OMIM:618120
Dermatosparaxis Ehlers-Danlos Syndrome	Osteopenia, Rickets, Osteomalacia, Joint stiffness, Joint hypermobility, Osteoporosis	ORPHA:1901
Hyperlysinemia	Hypoplasia of the antihelix, Opisthotonus, Spastic tetraparesis, High palate, Dysphagia, Gastroes...	ORPHA:2203
Dentinogenesis Imperfecta, Shields Type Iii	Dental enamel pits, Dentinogenesis imperfecta, Periapical bone loss, Anterior open-bite malocclus...	OMIM:125500
Dentinogenesis Imperfecta-Short Stature-Hearing Loss-Intellectual Disability Syndrome	Dentinogenesis imperfecta, Short philtrum, Delayed eruption of teeth, Sensorineural hearing impai...	ORPHA:71267
Wrinkly Skin Syndrome	Low-set ears, Progressive cerebellar ataxia, Carious teeth, Delayed eruption of teeth, Long philt...	ORPHA:2834
Baraitser-Winter Syndrome 1	Wide nasal bridge, Iris coloboma, Short nose, Microphthalmia	OMIM:243310
Developmental And Epileptic Encephalopathy 1	Microphthalmia	OMIM:308350
Complete Atrioventricular Septal Defect	Abnormal atrioventricular valve physiology, Recurrent pneumonia, Atrioventricular block, Right ve...	ORPHA:1329
Carnitine-Acylcarnitine Translocase Deficiency	Reduced tissue carnitine-acylcarnitine translocase activity, Hypotension, Elevated circulating he...	OMIM:212138
Brachydactyly, Type B1	Joint contracture of the hand, Broad thumb, Hypoplastic fingernail, Cutaneous finger syndactyly, ...	OMIM:113000
Mast Cell Sarcoma	Mastocytosis, Hypoplasia of the ear cartilage, Splenomegaly, Lymphadenopathy, Hepatomegaly, Media...	ORPHA:66661
Camurati-Engelmann Disease	Cortical thickening of long bone diaphyses, Increased bone mineral density, Sclerosis of skull ba...	OMIM:131300
Sunct Syndrome	Vomiting, Conjunctival hyperemia, Ear pain, Nausea, Ptosis, Hyperhidrosis, Palpebral edema, Photo...	ORPHA:57145
Lethal Ataxia With Deafness And Optic Atrophy	Recurrent upper respiratory tract infections, Congenital sensorineural hearing impairment, Blindn...	ORPHA:1187
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Wide nasal bridge, Choanal atresia, Aplasia/Hypoplasia of the tongue, Abnormal lip morphology, Ab...	ORPHA:2759
Adult-Onset Still Disease	Neutrophilia, Bone marrow hypocellularity, Elevated circulating hepatic transaminase concentratio...	ORPHA:829
Riddle Syndrome	Pneumonia, Decreased circulating IgG level, Recurrent pneumonia, Recurrent viral infections, Poor...	ORPHA:420741
Joubert Syndrome 22	Microphthalmia	OMIM:615665
Retinitis Pigmentosa 2	Cataract, Constriction of peripheral visual field, High myopia, Central scotoma, Nyctalopia, Peri...	OMIM:312600
Choroideremia	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Progressive visual...	OMIM:303100
Hermansky-Pudlak Syndrome 8	Gingival bleeding, Silver-gray hair, Epistaxis, Bruising susceptibility, Myopic astigmatism, Ocul...	OMIM:614077
Blindness-Scoliosis-Arachnodactyly Syndrome	Lens subluxation, Microphakia, Cataract	ORPHA:171844
Neurodevelopmental Disorder With Cerebellar Atrophy And With Or Without Seizures	Truncal titubation, Long philtrum, Tented upper lip vermilion, Gait ataxia, Dysmetria, Tremor, Ep...	OMIM:618056
Retinitis Pigmentosa 33	Attenuation of retinal blood vessels, Visual impairment, Nyctalopia	OMIM:610359
Retinitis Pigmentosa 81	Reduced visual acuity, Attenuation of retinal blood vessels, Nyctalopia	OMIM:617871
Retinitis Pigmentosa 9	Cataract, Constriction of peripheral visual field, Nyctalopia	OMIM:180104
Myopathy, Tubular Aggregate, 1	Weakness of the intrinsic hand muscles, Abnormal pupil morphology, Frequent falls, Nyctalopia	OMIM:160565
Hemophagocytic Lymphohistiocytosis, Familial, 1	Ataxia, Hemophagocytosis, Hemiplegia, Leukopenia, Splenomegaly, Infectious encephalitis, Hepatome...	OMIM:267700
8Q12 Microduplication Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	ORPHA:228399
Stiff Person Spectrum Disorder	Exaggerated startle response	ORPHA:3198
Coffin-Siris Syndrome 6	Attention deficit hyperactivity disorder, Plagiocephaly, Frontal bossing, Periventricular leukoma...	OMIM:617808
Microcephaly-Corpus Callosum And Cerebellar Vermis Hypoplasia-Facial Dysmorphism-Intellectual Disability Syndrom	Plagiocephaly, Polymicrogyria, Cerebellar dysplasia, Abnormal periventricular white matter morpho...	ORPHA:500159
Leber Congenital Amaurosis 14	Photophobia, Congenital blindness, Reduced visual acuity, Nyctalopia	OMIM:613341
Werner Syndrome	Osteoporosis, Joint stiffness, Increased bone mineral density	ORPHA:902
Axenfeld-Rieger Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Microdontia,...	ORPHA:782
Meckel Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia of the iris, Anophthalmia, Microphthalmia, Sclerocornea	ORPHA:564
Hyperornithinemia-Hyperammonemia-Homocitrullinuria Syndrome	Spastic paraplegia, Hepatic failure, Elevated circulating hepatic transaminase concentration, Imp...	ORPHA:415
Charge Syndrome	Aplasia/Hypoplasia of the earlobes, Hearing impairment, Abnormal tibia morphology, Narrow mouth, ...	ORPHA:138
Hyperekplexia 3	Exaggerated startle response	OMIM:614618
Kinsship Syndrome	Mandibular prognathia, Downturned corners of mouth, Thick lower lip vermilion, Widely spaced teet...	OMIM:619297
Oculopalatocerebral Syndrome	Leukocoria, Microphthalmia	OMIM:257910
Peroxisome Biogenesis Disorder 9B	Cataract, Cardiomyopathy, Constriction of peripheral visual field, Sensorineural hearing impairme...	OMIM:614879
Pseudohypoparathyroidism, Type Ia	Cataract, Short toe, Delayed eruption of teeth, Short finger, Hypogonadism, Pseudohypoparathyroid...	OMIM:103580
Jackson-Weiss Syndrome	Hypoplasia of the maxilla, Abnormal palate morphology, Mandibular prognathia, Convex nasal ridge	ORPHA:1540
Macular Dystrophy, Patterned, 1	Metamorphopsia, Reduced visual acuity, Photophobia, Nyctalopia	OMIM:169150
Congenital Factor Xi Deficiency	Epistaxis, Gastrointestinal hemorrhage, Abnormal bleeding, Prolonged bleeding after dental extrac...	ORPHA:329
Neurodegeneration With Developmental Delay, Early Respiratory Failure, Myoclonic Seizures, And Brain Abnormalities	Limb joint contracture, Tremor, Exaggerated startle response	OMIM:620327
9Q21.13 Microdeletion Syndrome	Abnormal tongue morphology, Downturned corners of mouth, Wide nasal ridge, Aplasia/Hypoplasia of ...	ORPHA:531151
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Wide nasal bridge, Bifid uvula, Downturned corners of mouth, Underdeveloped nasal alae, Furrowed ...	ORPHA:453499
Hartsfield Syndrome	Microphthalmia	ORPHA:2117
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Depressed nasal bridge, Cerebral atrophy, Prominent crus of helix, Open mouth, Protruding tongue,...	OMIM:617804
Hydranencephaly	Atrophic pituitary gland, Cerebral cortical atrophy, Abnormal corpus striatum morphology, Dysgene...	ORPHA:2177
Bor Syndrome	Branchial cyst	ORPHA:107
Fibular Hemimelia	Abnormal anterior chamber morphology, Anophthalmia	ORPHA:93323
Hemophilia B	Epistaxis, Gastrointestinal hemorrhage, Bruising susceptibility, Petechiae, Persistent bleeding a...	OMIM:306900
Hereditary Central Diabetes Insipidus	Diarrhea, Lethargy, Vomiting	ORPHA:30925
Sepsis In Premature Infants	Diarrhea, Neutropenia, Abdominal distention, Hepatomegaly, Jaundice, Tachycardia, Meningitis, Pur...	ORPHA:90051
Bazex-Dupre-Christol Syndrome	Narrow nasal ridge, Low hanging columella, Furrowed tongue, Underdeveloped nasal alae	OMIM:301845
Pleural Mesothelioma	Hepatomegaly, Abnormal cardiovascular system physiology, Dysphagia, Lymphadenopathy	ORPHA:50251
Granulomatous Disease, Chronic, X-Linked	Recurrent Klebsiella infections, Lymphadenitis, Hepatomegaly, Discoid lupus rash, Granuloma, Ecze...	OMIM:306400
Somatostatinoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97283
Common Variable Immunodeficiency	Pneumonia, Vasculitis, Elevated circulating hepatic transaminase concentration, Recurrent respira...	ORPHA:1572
Trichothiodystrophy 2, Photosensitive	Tiger tail banding, Coarse hair, Agenesis of maxillary lateral incisor	OMIM:616390
Osteopetrosis With Renal Tubular Acidosis	Tooth malposition, Tetraparesis, Pancytopenia, Micrognathia, Narrow mouth, Elliptocytosis, Hepato...	ORPHA:2785
Sandhoff Disease, Infantile Form	Cerebral cortical atrophy, Abnormal thalamic MRI signal intensity	ORPHA:309155
Retinitis Pigmentosa 7	Adult-onset night blindness, Constriction of peripheral visual field, Attenuation of retinal bloo...	OMIM:608133
Adult-Onset Autosomal Dominant Leukodystrophy	Spasticity, Aspiration pneumonia, Tetraparesis, Action tremor, Distal sensory impairment, Sensori...	ORPHA:99027
Orofaciodigital Syndrome Vi	Cerebellar vermis hypoplasia, Broad nasal tip, Lobulated tongue, Cleft upper lip, Polymicrogyria,...	OMIM:277170
Bjornstad Syndrome	Hair shafts flattened at irregular intervals and twisted through 180 degrees about their axes, Al...	OMIM:262000
Pantothenate Kinase-Associated Neurodegeneration	Spasticity, Depression, Leg dystonia, Limb dystonia, Acanthocytosis, Intention tremor, Rigidity, ...	ORPHA:157850
Cowden Syndrome 5	Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, Prog...	OMIM:615108
Summitt Syndrome	Craniosynostosis, Plagiocephaly, Hypertelorism	ORPHA:3210
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities	Photophobia, Reduced visual acuity, Central scotoma, Nyctalopia	OMIM:616079
Duplication Of The Pituitary Gland	Brachyturricephaly, Agenesis of corpus callosum, Abnormal hypothalamus morphology, Microcephaly, ...	ORPHA:314621
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Depressed nasal bridge, Anteverted nares, Micrognathia, Glossoptosis, Cleft palate	ORPHA:1427
Dpagt1-Cdg	Elevated circulating hepatic transaminase concentration, Clinodactyly, Hearing impairment, Hypert...	ORPHA:86309
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Micrognathia, Bifid tongue, Bilateral cleft palate	ORPHA:2001
Distal Deletion 10Q	Inferior cerebellar vermis hypoplasia, Proptosis, Lateral ventricle dilatation, Cavum septum pell...	ORPHA:96148
Gm2 Gangliosidosis, Ab Variant	Dystonia, Exaggerated startle response	ORPHA:309246
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina, Turricephaly	OMIM:601224
Cataract 10, Multiple Types	Posterior Y-sutural cataract, Developmental cataract, Nuclear cataract, Zonular cataract	OMIM:600881
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 1	Low-set ears, Cataract, Peters anomaly, Atresia of the external auditory canal, Cleft upper lip, ...	OMIM:236670
Leptospirosis	Diarrhea, Pulmonary hemorrhage, Nausea and vomiting, Arrhythmia, Anorexia, Hepatomegaly, Meningit...	ORPHA:509
Renal Hypoplasia, Bilateral	Astigmatism, Cryptorchidism, Lethargy, Hypermetropia, Anemia, Hypertension, Feeding difficulties	ORPHA:97362
Endocrine-Cerebroosteodysplasia	Low-set ears, Natal tooth, Thick upper lip vermilion, Micrognathia, Fibular bowing, Cryptorchidis...	OMIM:612651
Aniridia 1	Cataract, Ectopia lentis, Hypoplasia of the iris, Ectopia pupillae, Aniridia, Corneal neovascular...	OMIM:106210
6Q Terminal Deletion Syndrome	Abnormal cerebral cortex morphology, Plagiocephaly, Polymicrogyria, Periventricular heterotopia, ...	ORPHA:75857
Infantile Liver Failure Syndrome 2	Elevated circulating hepatic transaminase concentration, Vomiting, Cardiomyopathy, Acute hepatic ...	OMIM:616483
Ectopia Lentis Et Pupillae	Cataract, Ectopia lentis, Ectopia pupillae, Iris transillumination defect, Persistent pupillary m...	OMIM:225200
Usher Syndrome, Type 1M	Abnormal vestibular function, Prelingual sensorineural hearing impairment, Nyctalopia	OMIM:618632
Braddock-Carey Syndrome 2	Microphthalmia	OMIM:619981
Atelosteogenesis, Type Iii	Depressed nasal bridge, Hypoplasia of the maxilla, Micrognathia, Malar flattening, Cleft palate	OMIM:108721
Retinitis Pigmentosa 79	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:617460
Alg9-Cdg	Low-set ears, Diarrhea, Large fleshy ears, Micrognathia, Low posterior hairline, Talipes equinova...	ORPHA:79328
Chromosome 1Q21.1 Deletion Syndrome, 1.35-Mb	Low-set ears, Broad thumb, Frontal balding, Overlapping toe, Micrognathia, Sensorineural hearing ...	OMIM:612474
Retinitis Pigmentosa 90	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:619007
Zollinger-Ellison Syndrome	Hyperparathyroidism, Gastrointestinal hemorrhage, Hematochezia, Pituitary adenoma, Peptic ulcer, ...	ORPHA:913
Chromosome 17Q12 Duplication Syndrome	Peters anomaly, Microphthalmia	OMIM:614526
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 1	Low-set ears, Spasticity, Large fleshy ears, Micrognathia, Open mouth, Epicanthus, Anal atresia, ...	OMIM:614080
Megalencephaly-Polymicrogyria-Polydactyly-Hydrocephalus Syndrome 1	Blindness, Mitral regurgitation, Postaxial polydactyly, Long palpebral fissure, Ptosis	OMIM:603387
Encephalitis Lethargica	Diplopia, Recurrent viral infections, Tremor, Increased circulating antibody level, Parkinsonism,...	ORPHA:83600
Mowat-Wilson Syndrome	Tooth malposition, Supernumerary nipple, Recurrent otitis media, Ectopia pupillae, Cryptorchidism...	OMIM:235730
Infantile Systemic Hyalinosis	Osteopenia, Camptodactyly of finger, Osteomalacia, Joint stiffness, Increased susceptibility to f...	ORPHA:2176
Dworschak-Punetha Neurodevelopmental Syndrome	Dysplastic corpus callosum, Microcephaly, Colpocephaly, Agenesis of corpus callosum	OMIM:619955
Chondrodysplasia With Platyspondyly, Distinctive Brachydactyly, Hydrocephaly, And Microphthalmia	Short nose, Microphthalmia	OMIM:300863
Gaucher Disease	Gingival bleeding, Hearing impairment, Cherry red spot of the macula, Pancytopenia, Increased cir...	ORPHA:355
Retinitis Pigmentosa 71	Attenuation of retinal blood vessels, Nyctalopia	OMIM:616394
Vascular Ehlers-Danlos Syndrome	Aplasia/Hypoplasia of the earlobes, Keratoconus, Carious teeth, Periodontitis, Narrow mouth, Cryp...	ORPHA:286
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Depressed nasal bridge, Bulbous nose, Prominent nasal bridge, Protruding tongue, Smooth philtrum,...	ORPHA:324410
Micro Syndrome	Wide nasal bridge, Cataract, Microcornea, Microphthalmia, Short nose	ORPHA:2510
Canavan Disease	Hearing impairment, Reduced aspartoacylase activity in cultured fibroblasts, Blindness, Opisthoto...	OMIM:271900
Specc1L-Related Hypertelorism Syndrome	Low-set ears, Highly arched eyebrow, Abnormal helix morphology, Finger syndactyly, Long philtrum,...	ORPHA:1519
Exudative Vitreoretinopathy 4	Blindness, Subcapsular cataract, Reduced visual acuity, Vitreous hemorrhage, Peripheral retinal a...	OMIM:601813
Severe Intellectual Disability-Epilepsy-Anal Anomalies-Distal Phalangeal Hypoplasia	Plagiocephaly, Hypertelorism	ORPHA:94066
Maternal Uniparental Disomy Of Chromosome 4	Impaired vibratory sensation, Depression, Diarrhea, Malnutrition, Abnormal erythrocyte morphology...	ORPHA:96180
Cone Rod Dystrophy	Color vision defect, Visual impairment, Photophobia, Nyctalopia	ORPHA:1872
Icf Syndrome	Depressed nasal bridge, Micrognathia, Protruding tongue, Macrocephaly, Macroglossia	ORPHA:2268
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Recurrent pneumonia, Carious teeth, Abnormality of the dentition...	ORPHA:158668
Impaired Intellectual Development And Distinctive Facial Features With Or Without Cardiac Defects	Ataxia, Plagiocephaly, Brachycephaly, Hypertelorism, Frontal bossing	OMIM:616789
Q Fever	Hepatosplenomegaly, Increased circulating antibody level, Anorexia, Hepatomegaly, Meningitis, Pur...	ORPHA:781
Isolated Thyroid-Stimulating Hormone Deficiency	Depression, Increased circulating prolactin concentration, Goiter, Prolonged neonatal jaundice, C...	ORPHA:90674
Cushing Syndrome Due To Ectopic Acth Secretion	Malignant gastrointestinal tract tumors, Diarrhea, Abnormal lymph node morphology, Lymphopenia, C...	ORPHA:99889
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Hypertelorism	OMIM:300958
Immunodeficiency 85 And Autoimmunity	Decreased proportion of memory B cells, Reduced natural killer cell count, Decreased circulating ...	OMIM:619510
Branchiootorenal Syndrome 1	Branchial fistula, Branchial cyst	OMIM:113650
Baraitser-Winter Syndrome 2	Microphthalmia	OMIM:614583
Primary Intestinal Lymphangiectasia	Decreased circulating IgG level, Increased stool alpha1-antitrypsin concentration, Opportunistic ...	ORPHA:90362
Cerebrocostomandibular Syndrome	Hydranencephaly, Cerebral calcification, Micrognathia, Death in infancy, Microcephaly, Short hard...	ORPHA:1393
Orofaciodigital Syndrome Xiv	Cerebellar vermis hypoplasia, Cleft lip, Natal tooth, Lobulated tongue, Anteriorly placed anus, P...	OMIM:615948
Idiopathic Panuveitis	Red eye, Cataract, Abnormality of vision, Posterior synechiae of the anterior chamber, Blindness,...	ORPHA:280921
Meier-Gorlin Syndrome 7	Low-set ears, Hearing impairment, Narrow mouth, Cryptorchidism, Sensorineural hearing impairment,...	OMIM:617063
Retinitis Pigmentosa 70	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Reduced visual acu...	OMIM:615922
Ppoma	Diarrhea, Increased circulating prolactin concentration, Nausea and vomiting, Intestinal obstruct...	ORPHA:97278
Cleft Velum	Hypoplasia of the maxilla, Cleft soft palate, Velopharyngeal insufficiency	ORPHA:99772
Pseudohypoparathyroidism, Type Ic	Cataract, Delayed eruption of teeth, Hypogonadism, Pseudohypoparathyroidism, Enamel hypoplasia, B...	OMIM:612462
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Micrognathia, Glossoptosis, Cleft palate	ORPHA:440354
Kleefstra Syndrome Due To 9Q34 Microdeletion	Cerebral cortical atrophy, Downturned corners of mouth, Anteverted nares, Absent septum pellucidu...	ORPHA:96147
Cavitary Optic Disc Anomalies	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:611543
Dent Disease 1	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	OMIM:300009
Xq28 (MECP2) duplication	Microcephaly, Brachycephaly, Gait ataxia, Hypoplasia of the corpus callosum	DECIPHER:45
Bickerstaff Brainstem Encephalitis	Sensory ataxia, Confusion, Ataxia, Dysesthesia, Abnormal thalamic MRI signal intensity, Impaired ...	ORPHA:79138
Neurogenic Arthrogryposis Multiplex Congenita	Scaphocephaly, Plagiocephaly, Hypertelorism	ORPHA:1143
Congenital Hemidysplasia With Ichthyosiform Erythroderma And Limb Defects	Alopecia, Small nail, Hearing impairment, Cleft upper lip, Finger syndactyly, Aplasia of the dist...	OMIM:308050
Ectodermal Dysplasia With Adrenal Cyst	Delayed eruption of teeth, Breast hypoplasia, Nail dysplasia, Hypoplastic nipples, Hypohidrosis	OMIM:129550
Retinitis Pigmentosa 68	Visual field defect, Reduced visual acuity, Nyctalopia	OMIM:615725
Tick-Borne Encephalitis	Tongue fasciculations, Hearing impairment, Incoordination, Speech apraxia, Abnormality of the ves...	ORPHA:297
Follicular Lymphoma	Meningitis, Mediastinal lymphadenopathy, Splenomegaly, Lymphadenopathy	ORPHA:545
Idiopathic Trachyonychia	Atopic dermatitis, Toenail dysplasia, Fingernail dysplasia, Ridged nail, Nail dystrophy, Patchy a...	ORPHA:79153
Night Blindness, Congenital Stationary, Type 1H	Photophobia, Hypermetropia, Nyctalopia, Mild myopia	OMIM:617024
Late-Onset Retinal Degeneration	Scotoma, Adult-onset night blindness, Visual loss	OMIM:605670
Pde4D Haploinsufficiency Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Long philtrum, Abnormal dental enamel morpholo...	ORPHA:439822
Igg4-Related Kidney Disease	Arteritis, Inflammatory abnormality of the skin, Lymphadenitis, Increased circulating IgE level, ...	ORPHA:449395
X-Linked Cerebral-Cerebellar-Coloboma Syndrome	Low-set ears, Meckel diverticulum, Retrognathia, Nasogastric tube feeding, Micrognathia, Posterio...	ORPHA:163961
Amoebic Keratitis	Cataract, Corneal perforation, Abnormal cornea morphology, Punctate opacification of the cornea, ...	ORPHA:67043
Warburg Micro Syndrome 4	Cerebral cortical atrophy, Cerebellar atrophy, Secondary microcephaly, Hypoplasia of the corpus c...	OMIM:615663
Sarcoidosis, Susceptibility To, 1	Inflammation of the large intestine, Enlarged lacrimal glands, Anorexia, Hypoxemia, Pancytopenia,...	OMIM:181000
Cornelia De Lange Syndrome 5	Microcephaly, Brachycephaly, Hypertelorism, Deeply set eye	OMIM:300882
Diabetes, Deafness, Developmental Delay, And Short Stature Syndrome	Alopecia, Hypopituitarism, High myopia, Sensorineural hearing impairment, Hypergonadotropic hypog...	OMIM:620651
Inflammatory Bowel Disease 28, Autosomal Recessive	Hematochezia, Folliculitis, Pyoderma, Oral ulcer, Crohn's disease, Perianal abscess, Enterocoliti...	OMIM:613148
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Depressed nasal bridge, Mandibular prognathia, Cerebral atrophy, Diastema, Thick lower lip vermil...	OMIM:301040
Pallister-Hall Syndrome	Toe syndactyly, Natal tooth, Atresia of the external auditory canal, Postaxial foot polydactyly, ...	OMIM:146510
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Brachycephaly	OMIM:309545
Chromosome 3Pter-P25 Deletion Syndrome	Trigonocephaly, Microcephaly, Brachycephaly, Hypertelorism, Dolichocephaly, Flat occiput	OMIM:613792
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Narrow palate, Exaggerated median tongue furrow, Hyperplasia of the maxilla	ORPHA:313892
Brachydactyly, Type E2	Delayed eruption of teeth, Oligodontia, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:613382
Ring Chromosome 13 Syndrome	Alopecia, Aplasia/hypoplasia involving bones of the hand, Micrognathia, Short philtrum, Epicanthu...	ORPHA:96176
Woodhouse-Sakati Syndrome	Alopecia, Abnormal T-wave, Decreased response to growth hormone stimulation test, Decreased testi...	ORPHA:3464
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Choanal atresia, Branchial fistula, Underdeveloped nasal alae, Ankyloglossia...	ORPHA:261330
Fish-Eye Disease	Splenomegaly, Angina pectoris, Lymphadenopathy, Corneal opacity, Hepatomegaly, Visual impairment	ORPHA:79292
Cowden Syndrome 6	Colonic diverticula, Hypoplasia of the maxilla, Furrowed tongue, Micrognathia, Narrow mouth, Prog...	OMIM:615109
2-Methylbutyryl-Coa Dehydrogenase Deficiency	Lethargy	OMIM:610006
Chromosome Xp11.3 Deletion Syndrome	Cataract, Posterior subcapsular cataract, Moderate myopia, Constriction of peripheral visual fiel...	OMIM:300578
Alkuraya-Kucinskas Syndrome	Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Cerebellar dysplasia, Hypotelorism, Cer...	OMIM:617822
Methylmalonic Aciduria, Cbla Type	Vomiting, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Tremor, Hepatomegaly, Lethar...	OMIM:251100
Fanconi Renotubular Syndrome 3	Rickets	OMIM:615605
Microphthalmia, Syndromic 6	Low-set ears, Toe syndactyly, Hearing impairment, Finger syndactyly, Thumb contracture, Micrognat...	OMIM:607932
Igg4-Related Submandibular Gland Disease	Enlarged lacrimal glands, Xerostomia, Abnormal pancreas morphology, Increased circulating IgE lev...	ORPHA:449432
Rere-Related Neurodevelopmental Syndrome	Iris coloboma, Astigmatism, Peters anomaly, Microphthalmia	ORPHA:494344
Cone-Rod Dystrophy 21	Photophobia, Reduced visual acuity, Nyctalopia	OMIM:616502
Woodhouse-Sakati Syndrome	Alopecia, Hearing impairment, Fine hair, Abnormal T-wave, Decreased testicular size, Sensorineura...	OMIM:241080
Sandifer Syndrome	Gastroesophageal reflux, Abnormal posturing, Esophagitis, Hiatus hernia, Hematemesis, Torticollis...	ORPHA:71272
Hermansky-Pudlak Syndrome 11	Gingival bleeding, Epistaxis, Fair hair, Bruising susceptibility, Ocular albinism, Reduced platel...	OMIM:619172
Oculogastrointestinal Neurodevelopmental Syndrome	Unilateral microphthalmos, Bilateral microphthalmos	OMIM:619318
Craniosynostosis 2	Unicoronal synostosis, Trigonocephaly, Bicoronal synostosis, Hypotelorism, Turricephaly, Brachyce...	OMIM:604757
19P13.13 Microdeletion Syndrome	Hypoplasia of the frontal lobes, Deeply set eye, Chiari type I malformation, Brachycephaly, Atten...	ORPHA:357001
Macular Dystrophy, Retinal, 4	Reduced visual acuity, Nyctalopia	OMIM:619977
Metachromatic Leukodystrophy	Progressive spasticity, Visual impairment, Hearing impairment, Decerebrate rigidity, Incoordinati...	ORPHA:512
Flotch Syndrome	Abnormality of the nail, Photophobia, Sparse eyelashes, Abnormal eyelid morphology, Inflammatory ...	ORPHA:2045
Chromosome 15Q11.2 Deletion Syndrome	Memory impairment, Plagiocephaly, Hypotelorism, Diminished ability to concentrate, Attention defi...	OMIM:615656
Proboscis Lateralis	Cataract, Microcornea, Anophthalmia, Corneal opacity, Microphthalmia, Iris coloboma, Optic nerve ...	ORPHA:141099
Contractures, Congenital, Torticollis, And Malignant Hyperthermia	Cleft palate, Natal tooth, Abnormal mandible morphology, Torticollis	OMIM:217150
Proprotein Convertase 1/3 Deficiency	Diarrhea, Villous atrophy	OMIM:600955
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Microcytic anemia, Gastrointestinal infarctions, Skin rash, Prolon...	ORPHA:1059
Joubert Syndrome 37	Wide nasal bridge, Microphthalmia	OMIM:619185
Eiken Syndrome	Broad femoral neck, Eruption failure, Clinodactyly, Thick lower lip vermilion, Long hallux, Persi...	OMIM:600002
Exudative Vitreoretinopathy 2, X-Linked	Shallow anterior chamber, Microphthalmia	OMIM:305390
Holoprosencephaly-Caudal Dysgenesis Syndrome	Abnormality of the diencephalon, Proptosis, Microcephaly, Hypertelorism, Cyclopia	ORPHA:2165
Intussusception	Intussusception	OMIM:147710
Brain Abnormalities, Neurodegeneration, And Dysosteosclerosis	Osteopetrosis, Craniofacial osteosclerosis, Increased skull ossification, Diaphyseal sclerosis	OMIM:618476
Cerebrofacioarticular Syndrome	Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Dys...	ORPHA:314679
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative	Pneumonia, Cutaneous anergy, Recurrent upper respiratory tract infections, Absent natural killer ...	OMIM:600802
Vitamin D Hydroxylation-Deficient Rickets, Type 1A	Delayed epiphyseal ossification, Rickets, Sparse bone trabeculae, Thin bony cortex, Recurrent fra...	OMIM:264700
Familial Osteodysplasia, Anderson Type	Tooth malposition, Carious teeth, Failure of eruption of permanent teeth, Elbow dislocation, Abno...	ORPHA:2769
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Proximal muscle weakness in upper limbs, Distal upper limb muscle weakness, Poor fine m...	ORPHA:99956
Sympathetic Ophthalmia	Posterior uveitis, Cataract, Alopecia, Anterior chamber cells, Posterior synechiae of the anterio...	ORPHA:79098
Retinitis Pigmentosa 17	Color vision defect, Photophobia, Nyctalopia	OMIM:600852
Encephalopathy, Progressive, Early-Onset, With Brain Atrophy And Thin Corpus Callosum	Plagiocephaly, Cerebellar atrophy, Secondary microcephaly, Hypoplasia of the corpus callosum, Dee...	OMIM:617193
Hypoglossia-Hypodactylia	Microglossia, Retrognathia, Aglossia, Micrognathia, Narrow mouth	OMIM:103300
Goldberg-Shprintzen Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the brainstem, Polymicrogyria, Bulbou...	OMIM:609460
Monosomy 9Q22.3	Low-set ears, Cataract, Palmar pits, Delayed eruption of teeth, Long philtrum, Downslanted palpeb...	ORPHA:77301
Neurodevelopmental Disorder With Spastic Diplegia And Visual Defects	Broad nasal tip, Long philtrum, Hypoplasia of the corpus callosum, Thin upper lip vermilion, Prim...	OMIM:615075
Retinitis Pigmentosa 85	Reduced visual acuity, Progressive night blindness	OMIM:618345
Neurodevelopmental Disorder With Or Without Seizures And Gait Abnormalities	Joint contracture, Exaggerated startle response	OMIM:617864
Retinitis Pigmentosa 47	Visual impairment, Nyctalopia	OMIM:613758
Osteopetrosis, Autosomal Recessive 3	Dental malocclusion, Periodic hypokalemic paresis, Extramedullary hematopoiesis, Hepatosplenomega...	OMIM:259730
Blau Syndrome	Xerostomia, Synovitis, Iridocyclitis, Abnormal retinal vascular morphology, Erythema nodosum, Cat...	ORPHA:90340
2Q32Q33 Microdeletion Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:251019
Intellectual Developmental Disorder, Autosomal Dominant 73	Ankyloglossia, Cleft soft palate, Everted lower lip vermilion, Long nose, High palate, U-Shaped u...	OMIM:620450
Marshall-Smith Syndrome	Death in childhood, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Irregular den...	OMIM:602535
Desmosterolosis	Increased bone mineral density, Osteopetrosis	ORPHA:35107
Cryptophthalmos, Unilateral Or Bilateral, Isolated	Microphthalmia	OMIM:123570
Microbrachycephaly-Ptosis-Cleft Lip Syndrome	Microcephaly, Brachycephaly, Hypotelorism, Flat occiput	ORPHA:2511
Fanconi Renotubular Syndrome 1	Rickets, Osteomalacia	OMIM:134600
Osteopetrosis, Autosomal Recessive 5	Increased bone mineral density, Osteopetrosis, Cranial hyperostosis, Decreased osteoclast count	OMIM:259720
Chand Syndrome	Short fifth metatarsal, Ataxia, Ankyloblepharon, Agenesis of permanent teeth, Nail dysplasia, Abn...	ORPHA:1401
Odontomicronychial Dysplasia	Abnormality of the dentition, Short nail, Carious teeth, Premature loss of primary teeth, Prematu...	ORPHA:1811
Mccune-Albright Syndrome	Hyperparathyroidism, Craniofacial hyperostosis, Pituitary adenoma, Hearing impairment, Increased ...	OMIM:174800
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Underdeveloped nasal alae, Anteverted nares, Glossoptosis, Biparietal narrowing, Short nose	ORPHA:2031
Carnitine Palmitoyltransferase I Deficiency	Elevated circulating hepatic transaminase concentration, Diarrhea, Elevated circulating aspartate...	OMIM:255120
Autoinflammation, Panniculitis, And Dermatosis Syndrome	Vasculitis, Diarrhea, Leukocytosis, Skin rash, Chronic diarrhea, Increased proportion of CD4-posi...	OMIM:617099
Hyperinsulinism Due To Short Chain 3-Hydroxylacyl-Coa Dehydrogenase Deficiency	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Diarrhea, Vomiti...	ORPHA:71212
Combined Hamartoma Of The Retina And Retinal Pigment Epithelium	Reduced visual acuity, Blindness, Retinal vascular tortuosity, Nasolacrimal duct obstruction	ORPHA:440727
Retinitis Pigmentosa 63	Blurred vision, Nyctalopia	OMIM:614494
Immunodeficiency 32A	Granuloma, Lymphadenitis, BCGitis, Lymphadenopathy, Recurrent infections	OMIM:614893
Retinitis Pigmentosa 51	Attenuation of retinal blood vessels, High myopia, Polydactyly, Reduced visual acuity, Nyctalopia...	OMIM:613464
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	Depressed nasal bridge, Cerebral atrophy, Anteverted nares, Gingival overgrowth, Protruding tongu...	OMIM:618797
Congenital Plasminogen Activator Inhibitor Type 1 Deficiency	Epidural hemorrhage, Gastrointestinal hemorrhage, Epistaxis, Prolonged bleeding after dental extr...	ORPHA:465
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 2	Plagiocephaly, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, ...	OMIM:616801
Acrocephalopolydactylous Dysplasia	Low-set ears, Hepatic fibrosis, Micromelia, Polysplenia, Hypoplastic colon, Upslanted palpebral f...	OMIM:200995
Chikungunya	Gingival bleeding, Red eye, Diarrhea, Crusting erythematous dermatitis, Synovitis, Erythema nodos...	ORPHA:324625
Night Blindness, Congenital Stationary, Type1I	Tritanomaly, Nyctalopia	OMIM:618555
Spinocerebellar Ataxia, Autosomal Recessive 3	Ataxia, Blindness, Hearing impairment, Cochlear degeneration	OMIM:271250
Congenital Disorder Of Glycosylation, Type Il	Cerebellar atrophy, Cerebral atrophy, Microcephaly, Brachycephaly, Hypertelorism, Frontal bossing	OMIM:608776
Holoprosencephaly	Spinal dysraphism, Branchial anomaly, Encephalocele, Short neck, Hydrocephalus, Holoprosencephaly	ORPHA:2162
Neuroblastoma	Increased circulating lactate dehydrogenase concentration, Abnormal bleeding, Abdominal distentio...	ORPHA:635
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Sotos Syndrome	Small nail, Hearing impairment, Decreased fertility, Cryptorchidism, Talipes equinovarus, Hyperme...	ORPHA:821
Kufor-Rakeb Syndrome	Blepharospasm, Oculogyric crisis, Myoclonus, Upper motor neuron dysfunction, Rigidity, Babinski s...	ORPHA:306674
Mandibuloacral Dysplasia With Type B Lipodystrophy	Abnormal fingertip morphology, Abnormality of the dentition, Alopecia, Short distal phalanx of fi...	ORPHA:90154
Fleck Retina, Familial Benign	Visual impairment, Nyctalopia	OMIM:228980
Tetraamelia-Multiple Malformations Syndrome	Cataract, Microcornea, Microphthalmia, Septo-optic dysplasia, Iris coloboma	ORPHA:3301
Ritscher-Schinzel Syndrome 1	Decreased response to growth hormone stimulation test, Prominent occiput, Brachycephaly, Hypertel...	OMIM:220210
Arima Syndrome	Ataxia, Hepatic fibrosis, Postaxial foot polydactyly, Blindness, Hepatic steatosis, Hypertension,...	OMIM:243910
Vitreoretinopathy, Neovascular Inflammatory	Posterior retinal neovascularization, Peripheral retinal neovascularization, Blindness, Vitreous ...	OMIM:193235
Desmoplastic Small Round Cell Tumor	Ileus, Nausea and vomiting, Hepatomegaly, Lymphadenopathy, Testicular neoplasm, Abdominal distent...	ORPHA:83469
17Q12 Microduplication Syndrome	Microphthalmia	ORPHA:261272
Sponastrime Dysplasia	Osteopathia striata, Genu valgum, Epicanthus, Microcoria, Hypoplasia of the nasal bone, Neutropen...	ORPHA:93357
Autosomal Dominant Hypocalcemia	Alopecia, Hypotension, Depression, Eczematoid dermatitis, Congestive heart failure, Abnormal fing...	ORPHA:428
Full Nf2-Related Schwannomatosis	Hyperesthesia, Posterior subcapsular cataract, Diplopia, Bilateral vestibular schwannoma, Somatic...	ORPHA:637
Cirrhosis, Familial	Biliary cirrhosis, Micronodular cirrhosis, Lethargy, Cirrhosis, Pulmonary arterial hypertension, ...	OMIM:215600
Fundus Albipunctatus	Fundus albipunctatus, Nyctalopia	OMIM:136880
Retinitis Pigmentosa 50	Reduced visual acuity, Attenuation of retinal blood vessels, Nyctalopia	OMIM:613194
Methylmalonic Aciduria And Homocystinuria, Cbld Type	Increased mean corpuscular volume, Decreased methylmalonyl-CoA mutase activity, Decreased methion...	OMIM:277410
Congenital Fibrinogen Deficiency	Developmental cataract, Microphthalmia	ORPHA:335
Malt Lymphoma	Posterior uveitis, Nausea and vomiting, Abnormal nasolacrimal system morphology, Constipation, Hy...	ORPHA:52417
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Furrowed tongue	ORPHA:2928
Melnick-Needles Syndrome	Tooth malposition, Craniofacial hyperostosis, Short distal phalanx of finger, Delayed eruption of...	ORPHA:2484
Pseudoxanthoma Elasticum-Like Skin Manifestations With Retinitis Pigmentosa	Attenuation of retinal blood vessels, Nyctalopia	ORPHA:436274
Exudative Vitreoretinopathy 1	Blindness, Vitreous floaters, Subcapsular cataract, Reduced visual acuity, Vitreous hemorrhage, R...	OMIM:133780
Carnitine-Acylcarnitine Translocase Deficiency	Hepatic failure, Elevated circulating hepatic transaminase concentration, Hypotension, Cardiomyop...	ORPHA:159
Eisenmenger Syndrome	Elevated jugular venous pressure, Abdominal distention, Hepatomegaly, Patent ductus arteriosus, C...	ORPHA:97214
Cardiospondylocarpofacial Syndrome	High, narrow palate, Tooth malposition, Synostosis of carpal bones, Conductive hearing impairment...	ORPHA:3238
Microphthalmia, Syndromic 1	Low-set ears, Tooth malposition, Joint contracture of the hand, Hearing impairment, Clinodactyly,...	OMIM:309800
Paroxysmal Nocturnal Hemoglobinuria	Pancytopenia, Jaundice, Dysphagia, Increased circulating lactate dehydrogenase concentration, Ret...	ORPHA:447
Retinitis Pigmentosa 92	Paracentral scotoma, Constriction of peripheral visual field, Visual impairment, Nyctalopia	OMIM:619614
Autosomal Spastic Paraplegia Type 58	Spasticity, Frequent falls, Fasciculations, Chorea, Gait ataxia, Dysmetria, Titubation, Tremor, H...	ORPHA:397946
Developmental Delay With Hypotonia, Myopathy, And Brain Abnormalities	Cerebral cortical atrophy, Microcephaly, Brachycephaly, Progressive microcephaly, Thin corpus cal...	OMIM:620240
Steatocystoma Multiplex With Natal Teeth	Natal tooth, Abnormality of the nail	OMIM:184510
Rheumatoid Factor-Negative Polyarticular Juvenile Idiopathic Arthritis	Hip osteoarthritis, Abnormality of the temporomandibular joint, Abnormality of the wrist, Hepatos...	ORPHA:85408
Familial Isolated Hypoparathyroidism	Cataract, Delayed eruption of teeth, Abnormal dental enamel morphology, Arrhythmia, Hypoparathyro...	ORPHA:2238
Ehlers-Danlos Syndrome, Musculocontractural Type, 2	Brachycephaly, Frontal bossing, Cerebral atrophy, Hypertelorism	OMIM:615539
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Glossitis, Cheilitis, Tongue atrophy	ORPHA:54028
Mitochondrial Complex I Deficiency, Nuclear Type 39	Dysplastic corpus callosum	OMIM:620135
Hypothyroidism Due To Deficient Transcription Factors Involved In Pituitary Development Or Function	Ectopic posterior pituitary, Short finger, Hypopituitarism, Decreased response to growth hormone ...	ORPHA:226307
Pfeiffer Syndrome	Depressed nasal bridge, Choanal atresia, Hypoplasia of the maxilla, Dental crowding, Choanal sten...	OMIM:101600
Hypergonadotropic Hypogonadism And Partial Alopecia	Alopecia, Streak ovary, Hypergonadotropic hypogonadism	OMIM:241090
Myoclonic-Astatic Epilepsy	Wide nasal bridge, Microphthalmia	ORPHA:1942
Recombinant Chromosome 8 Syndrome	Secondary microcephaly, Brachycephaly, Cerebral atrophy, Hypertelorism	OMIM:179613
Spastic Tetraplegia And Axial Hypotonia, Progressive	Exaggerated startle response	OMIM:618598
Acyl-Coa Dehydrogenase, Medium-Chain, Deficiency Of	Elevated circulating hepatic transaminase concentration, Vomiting, Reduced tissue medium-chain ac...	OMIM:201450
Retinitis Pigmentosa 84	Cataract, Attenuation of retinal blood vessels, Visual acuity no light perception, Nyctalopia	OMIM:618220
Systemic-Onset Juvenile Idiopathic Arthritis	Anterior uveitis, Skin rash, Splenomegaly, Hepatomegaly, Lymphadenopathy, Arthritis, Juvenile rhe...	ORPHA:85414
Olmsted Syndrome 2	Sparse hair, Alopecia universalis, Palmoplantar keratoderma, Woolly hair, Palmoplantar hyperkerat...	OMIM:619208
Lelis Syndrome	Hypodontia, Carious teeth, Mandibular prognathia, Furrowed tongue	ORPHA:140936
Nablus Mask-Like Facial Syndrome	Wide nasal bridge, Depressed nasal bridge, Abnormality of the dentition, Hypoplasia of the maxill...	OMIM:608156
Autosomal Dominant Optic Atrophy And Cataract	Resting tremor, Positive Romberg sign, Posterior cortical cataract, Reduced visual acuity, Ataxia...	ORPHA:67036
Retinitis Pigmentosa 76	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:617123
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Micrognathia, Carious teeth, Glossoptosis	ORPHA:93346
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 9	Buphthalmos, Cataract, Microphthalmia	OMIM:616538
Amelogenesis Imperfecta, Hypomaturation Type, Iia1	Carious teeth, Yellow-brown discoloration of the teeth, Enamel hypomineralization, Amelogenesis i...	OMIM:204700
Cholestasis, Progressive Familial Intrahepatic, 2	Diarrhea, Fat malabsorption, Hepatocellular carcinoma	OMIM:601847
Retinitis Pigmentosa 69	Constriction of peripheral visual field, Reduced visual acuity, Nyctalopia	OMIM:615780
Potocki-Shaffer Syndrome	Brachycephaly, Parietal foramina	ORPHA:52022
Alexander Disease	Ataxia, Spasticity, Diplopia, Hypotension, Depression, Chorea, Nausea and vomiting, Tremor, Infec...	ORPHA:58
Stiff-Person Syndrome	Opisthotonus, Exaggerated startle response	OMIM:184850
X-Linked Intellectual Disability, Wilson Type	Microcephaly, Brachycephaly, Lateral ventricle dilatation	ORPHA:85290
Hypophosphatemic Rickets, X-Linked Dominant	Hypophosphatemic rickets, Rickets, Osteoarthritis, Osteomalacia	OMIM:307800
Hyperekplexia 1	Exaggerated startle response	OMIM:149400
Sickle Cell Anemia	Hypochromic anemia, Persistence of hemoglobin F, Microcytic anemia, Abnormality of the spleen, Fi...	ORPHA:232
Acro-Renal-Mandibular Syndrome	Hypoplasia of the zygomatic bone, Aplasia/Hypoplasia of the tongue, Micrognathia, Abnormality of ...	ORPHA:958
Cystinosis, Late-Onset Juvenile Or Adolescent Nephropathic Type	Rickets	OMIM:219900
Niemann-Pick Disease Type C	Hearing impairment, Aspiration pneumonia, Speech apraxia, Hepatosplenomegaly, Limb dystonia, Axia...	ORPHA:646
Dermatitis Herpetiformis	Dental enamel pits, Delayed eruption of teeth, Eczematoid dermatitis, Microcytic anemia, Erosion ...	ORPHA:1656
Bile Acid Synthesis Defect, Congenital, 1	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:607765
Fg Syndrome Type 1	Small pituitary gland, Plagiocephaly, Aplasia/Hypoplasia of the corpus callosum, Prominent occipu...	ORPHA:93932
Tay-Sachs Disease	Exaggerated startle response	OMIM:272800
Methylmalonic Aciduria, Cblb Type	Dilated cardiomyopathy, Vomiting, Decreased methylmalonyl-CoA mutase activity, Pancytopenia, Hepa...	OMIM:251110
Congenital Heart Defects, Dysmorphic Facial Features, And Intellectual Developmental Disorder	Small cerebral cortex, Plagiocephaly, Prominent occiput, Periventricular leukomalacia, Hypoplasia...	OMIM:617360
Glycogen Storage Disease Due To Hepatic Glycogen Synthase Deficiency	Lethargy, Abnormality of the gastrointestinal tract, Elevated circulating hepatic transaminase co...	ORPHA:2089
Developmental Delay-Facial Dysmorphism Syndrome Due To Med13L Deficiency	Wide nasal bridge, Ocular anterior segment dysgenesis, Bilateral microphthalmos, Short nose	ORPHA:369891
Hypothyroidism Due To Tsh Receptor Mutations	Lethargy, Feeding difficulties in infancy, Constipation, Delayed proximal femoral epiphyseal ossi...	ORPHA:90673
Intellectual Disability-Strabismus Syndrome	Plagiocephaly, Decreased response to growth hormone stimulation test, Hypoplasia of the corpus ca...	ORPHA:363528
X-Linked Dominant Chondrodysplasia, Chassaing-Lacombe Type	Short nose, Microphthalmia	ORPHA:163966
Hao-Fountain Syndrome Due To 16P13.2 Microdeletion	Dilated third ventricle, Plagiocephaly, Periventricular leukomalacia, Hypoplasia of the corpus ca...	ORPHA:500055
Secondary Intestinal Lymphangiectasia	Intestinal bleeding, Lymphopenia, Intestinal obstruction, Cirrhosis, Celiac disease, Gastrointest...	ORPHA:90363
Hypercalcemia, Infantile, 1	Lethargy, Vomiting	OMIM:143880
Atrioventricular Defect-Blepharophimosis-Radial And Anal Defect Syndrome	Wide nasal bridge, Ocular albinism, Microphthalmia	ORPHA:1352
Colchicine Poisoning	Alopecia, Hypotension, Cardiogenic shock, Diarrhea, Vomiting, Congestive heart failure, Leukocyto...	ORPHA:31824
Cowden Syndrome 1	Colonic diverticula, Hypoplasia of the maxilla, Hemimegalencephaly, Furrowed tongue, Micrognathia...	OMIM:158350
Mitochondrial Trifunctional Protein Deficiency 1	Elevated circulating hepatic transaminase concentration, Dilated cardiomyopathy, Congestive heart...	OMIM:609015
Holoprosencephaly 9	Hypoplasia of the premaxilla, Underdeveloped tragus, Cryptorchidism, Bilateral cleft palate, Shor...	OMIM:610829
X-Linked Hypophosphatemia	Limitation of joint mobility, Rickets, Generalized osteosclerosis, Arthritis, Enthesitis, Cranios...	ORPHA:89936
Pycnodysostosis	Increased bone mineral density, Osteolytic defects of the distal phalanges of the hand	OMIM:265800
Neurodevelopmental Disorder With Hypotonia, Microcephaly, And Seizures	Temporal cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Brachy...	OMIM:618862
Leber Congenital Amaurosis 3	Constriction of peripheral visual field, Visual loss, Nyctalopia	OMIM:604232
Hemorrhagic Fever-Renal Syndrome	Diarrhea, Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Abdominal pain, Shock, P...	ORPHA:340
Developmental Delay With Variable Intellectual Impairment And Behavioral Abnormalities	Plagiocephaly, Deeply set eye, Brachycephaly, Ataxia, Frontal bossing	OMIM:618430
Genitourinary And/Or Brain Malformation Syndrome	Chiari malformation, Polymicrogyria, Secondary microcephaly, Absent septum pellucidum, Agenesis o...	OMIM:618820
Aicardi-Goutières Syndrome	Low-set ears, Spasticity, Neonatal alloimmune thrombocytopenia, Spastic paraparesis, Hepatospleno...	ORPHA:51
Kleefstra Syndrome 2	Microcephaly, Plagiocephaly	OMIM:617768
Genetic Transient Congenital Hypothyroidism	Goiter, Lethargy, Constipation, Prolonged neonatal jaundice, Macroglossia, Thyroid hypoplasia, Fe...	ORPHA:226316
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	ORPHA:1553
3-Methylcrotonyl-Coa Carboxylase 1 Deficiency	Acute hepatic steatosis, Vomiting, Reduced 3-methylcrotonyl CoA carboxylase activity in cultured ...	OMIM:210200
Optic Atrophy-Ataxia-Peripheral Neuropathy-Global Developmental Delay Syndrome	Cataract, Spasticity, Abnormal mitochondrial shape, Blindness, Gait ataxia, Central scotoma, Hype...	ORPHA:543470
Orofaciodigital Syndrome Type 14	Microretrognathia, Open operculum, Lobulated tongue, Hamartoma of tongue, Bulbous nose, Hypoplasi...	ORPHA:434179
Wilson Disease	Kayser-Fleischer ring, Acute hepatic failure, Limb dystonia, Hepatic steatosis, Cirrhosis, Elevat...	OMIM:277900
Cholera	Hypovolemic shock, Hypotension, Diarrhea, Vomiting, Aspiration pneumonia, Palmoplantar cutis laxa...	ORPHA:173
N-Acetylglutamate Synthase Deficiency	Vomiting, Reduced hepatic N-acetylglutamate synthase activity, Lethargy, Hypertonia, Anorexia	OMIM:237310
Holzgreve Syndrome	Bifid tongue, Aplasia/Hypoplasia of the tongue, Cleft palate, Aplasia/Hypoplasia of the corpus ca...	ORPHA:2167
Hereditary Fructose Intolerance	Cataract, Reduced circulating aldolase concentration, Diarrhea, Vomiting, Nausea, Chronic hepatic...	ORPHA:469
Bothnia Retinal Dystrophy	Nyctalopia	OMIM:607475
Autoimmune Enteropathy And Endocrinopathy-Susceptibility To Chronic Infections Syndrome	Inflammatory abnormality of the skin, Diarrhea, Lymphopenia, Hepatosplenomegaly, Abnormal intesti...	ORPHA:391487
Richieri-Costa/Guion-Almeida Syndrome	Gait ataxia, Hypotelorism, Deeply set eye, Microcephaly, Brachycephaly	OMIM:268850
Retinitis Pigmentosa 38	Constriction of peripheral visual field, Progressive visual loss, Nyctalopia	OMIM:613862
Otopalatodigital Syndrome Type 2	Depressed nasal bridge, Micrognathia, Narrow mouth, Hypoplastic frontal sinuses, Malar flattening...	ORPHA:90652
Chromosome 14Q11-Q22 Deletion Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Deeply set eye, Mi...	OMIM:613457
Granulomatous Slack Skin	Abnormal lymph node morphology	ORPHA:33111
Nabais Sa-De Vries Syndrome, Type 1	Brachycephaly, Deeply set eye, Primary microcephaly, Simplified gyral pattern	OMIM:618828
Linear Nevus Sebaceus Syndrome	Abnormality of vision, Alopecia, Telecanthus, Adenoma sebaceum, Iris coloboma	ORPHA:2612
Tangier Disease	Hepatosplenomegaly, Impaired temperature sensation, Chronic noninfectious lymphadenopathy, Nail d...	ORPHA:31150
Retinitis Pigmentosa 3	Color vision defect, Constriction of peripheral visual field, High myopia, Reduced visual acuity,...	OMIM:300029
Gastrointestinal Defects And Immunodeficiency Syndrome 2	Inflammation of the large intestine, Lymphopenia, Overlapping fingers, Micrognathia, Intention tr...	OMIM:619708
Microcephaly-Facial Dysmorphism-Ocular Anomalies-Multiple Congenital Anomalies Syndrome	Mandibular prognathia, Rieger anomaly, Tented upper lip vermilion, Buphthalmos, Tapered finger, P...	ORPHA:521445
8Q21.11 Microdeletion Syndrome	Iris hypopigmentation, Cataract, Microphthalmia, Corneal opacity, Sclerocornea	ORPHA:284160
Muenke Syndrome	Coronal craniosynostosis, Plagiocephaly, Proptosis, Brachycephaly, Hypertelorism	ORPHA:53271
Lenz-Majewski Hyperostotic Dwarfism	Limitation of joint mobility, Cranial hyperostosis, Facial hyperostosis, Abnormal cortical bone m...	ORPHA:2658
Amelogenesis Imperfecta, Type Ih	Dental enamel pits, Yellow-brown discoloration of the teeth, Amelogenesis imperfecta, Enamel hypo...	OMIM:616221
Wrinkly Skin Syndrome	Low-set ears, Carious teeth, Short nail, Delayed eruption of teeth, Long philtrum, Microretrognat...	OMIM:278250
Phacoanaphylactic Uveitis	Posterior uveitis, Red eye, Panuveitis, Anterior chamber flare grade 1+, Keratitis, Posterior syn...	ORPHA:209959
Chromosome 6Pter-P24 Deletion Syndrome	Agenesis of corpus callosum, Brachycephaly, Hypertelorism, Frontal bossing, Dandy-Walker malforma...	OMIM:612582
Neurodevelopmental, Jaw, Eye, And Digital Syndrome	Lens coloboma, Microphthalmia	OMIM:618914
Neurofibromatosis Type 1	Neoplasm of the skin, Chronic myelogenous leukemia, Meningioma, Rhabdomyosarcoma, Pheochromocytom...	ORPHA:636
Rutherfurd Syndrome	Opacification of the corneal stroma, Failure of eruption of permanent teeth, Corneal dystrophy, D...	OMIM:180900
Carbamoyl Phosphate Synthetase I Deficiency, Hyperammonemia Due To	Lethargy, Vomiting, Protein avoidance, Ataxia	OMIM:237300
Leptin Receptor Deficiency	Decreased response to growth hormone stimulation test, Abnormal hypothalamus morphology, Pituitar...	OMIM:614963
Developmental And Epileptic Encephalopathy 49	Cerebellar vermis hypoplasia, Basal ganglia calcification, Cerebral calcification, Dysplastic cor...	OMIM:617281
Intellectual Developmental Disorder, Autosomal Dominant 1	Cerebellar vermis hypoplasia, Secondary microcephaly, Short attention span, Hypoplasia of the fro...	OMIM:156200
Aarskog-Scott Syndrome	Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Hypodontia, Clef...	OMIM:305400
Webb-Dattani Syndrome	Spasticity, Gastroesophageal reflux, Retrognathia, Decreased response to growth hormone stimulati...	OMIM:615926
Lethal Faciocardiomelic Dysplasia	Microretrognathia, Microglossia, Narrow mouth	ORPHA:1972
Blomstrand Lethal Chondrodysplasia	Low-set ears, Cataract, Rhizomelia, Metaphyseal cupping, Natal tooth, Long philtrum, Flared metap...	ORPHA:50945
Cole-Carpenter Syndrome	Delayed eruption of teeth, Downslanted palpebral fissures, Abnormal dental enamel morphology, Mic...	ORPHA:2050
Chromosome 2P16.1-P15 Deletion Syndrome	Hypoplasia of the pons, Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachy...	OMIM:612513
Neu-Laxova Syndrome	Osteopenia, Rickets, Osteomalacia, Opisthotonus, Osteoporosis, Flexion contracture, Arthrogryposi...	ORPHA:2671
Laurence-Moon Syndrome	Brachycephaly, Ataxia	ORPHA:2377
Alveolar Capillary Dysplasia With Misalignment Of Pulmonary Veins	Low-set ears, Congenital shortened small intestine, Cleft lip, Annular pancreas, Retrognathia, Du...	OMIM:265380
Pseudohermaphroditism, Female, With Skeletal Anomalies	Short mandibular condyles, Hypoplasia of the maxilla	OMIM:264270
Peroxisome Biogenesis Disorder 12A (Zellweger)	Wide nasal bridge, Cerebral atrophy, Prominent nose, Prominence of the premaxilla, Microcephaly	OMIM:614886
Craniosynostosis And Dental Anomalies	Narrow palate, Hypoplasia of the maxilla, Conductive hearing impairment, Dental malocclusion, Sta...	OMIM:614188
Retinitis Pigmentosa 12	Reduced visual acuity, Attenuation of retinal blood vessels, High hypermetropia, Nyctalopia	OMIM:600105
Familial Pancreatic Carcinoma	Peritoneal abscess, Elevated circulating hepatic transaminase concentration, Intestinal pseudo-ob...	ORPHA:1333
Isolated Biliary Atresia	Elevated gamma-glutamyltransferase level, Periportal fibrosis, Elevated circulating hepatic trans...	ORPHA:30391
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
Peutz-Jeghers Syndrome	Intestinal bleeding, Gastrointestinal carcinoma, Bile duct polyp, Intussusception, Bloody diarrhe...	OMIM:175200
Hermansky-Pudlak Syndrome 6	Hearing impairment, Perineal fistula, Reduced visual acuity, Albinism, Anal atresia, Bowel incont...	OMIM:614075
Retinitis Pigmentosa	Constriction of peripheral visual field, Nyctalopia	OMIM:268000
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome	Abnormal corpus callosum morphology, Plagiocephaly, Lateral ventricle dilatation, Cavum septum pe...	ORPHA:457279
Subaortic Stenosis-Short Stature Syndrome	Microphthalmia	ORPHA:3191
Anaplastic Thyroid Carcinoma	Goiter, Tracheoesophageal fistula, Lymphadenopathy, Vocal cord paralysis, Nodular goiter, Dysphagia	ORPHA:142
Rhizomelic Limb Shortening With Dysmorphic Features	Plagiocephaly, Proptosis	OMIM:618821
Rod-Cone Dystrophy, Sensorineural Deafness, And Fanconi-Type Renal Dysfunction	Rickets, Recurrent fractures	OMIM:268315
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Congenital Adrenal Hyperplasia Due To 11-Beta-Hydroxylase Deficiency	Irregular menstruation, Alopecia, Intracranial hemorrhage, Polycystic ovaries, Hirsutism, Hyperte...	ORPHA:90795
Fibrous Dysplasia Of Bone	Rickets, Osteomalacia, Cortical irregularity, Pathologic fracture, Fibrous dysplasia of the bones...	ORPHA:249
19P13.12 Microdeletion Syndrome	Proptosis, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Hypertelorism, Cranios...	ORPHA:254346
Chromosome 8Q21.11 Deletion Syndrome	Sclerocornea, Cataract, Wide nasal bridge, Microphthalmia	OMIM:614230
Martsolf Syndrome 1	Depressed nasal bridge, Tooth malposition, Broad nasal tip, Hypoplasia of the maxilla, Long philt...	OMIM:212720
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Low-set ears, Cleft lip, Natal tooth, Short tibia, Preaxial polydactyly, Hamartoma of tongue, Mic...	OMIM:617925
Posterior Urethral Valve	Retrognathia, Recurrent urinary tract infections, Pyelonephritis, Lethargy, Hypertension	ORPHA:93110
Congenital Disorder Of Glycosylation, Type Iit	Microcephaly, Brachycephaly, Abnormal cerebral white matter morphology, Pineal cyst, Hypertelorism	OMIM:618885
Amelogenesis Imperfecta, Type Iiic	Amelogenesis imperfecta, Yellow-brown discoloration of the teeth, Anterior open-bite malocclusion...	OMIM:618386
Amelogenesis Imperfecta, Hypomaturation Type, Iia2	Amelogenesis imperfecta, Anterior open-bite malocclusion, Yellow-brown discoloration of the teeth...	OMIM:612529
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Cleft soft palate...	OMIM:117650
Restrictive Dermopathy 1	Low-set ears, Sparse eyebrow, Short nail, Natal tooth, Short palpebral fissure, Stillbirth, Tempo...	OMIM:275210
Autism, Susceptibility To, X-Linked 2	Plagiocephaly	OMIM:300495
Retinitis Pigmentosa 28	Constriction of peripheral visual field, Nyctalopia	OMIM:606068
Sudden Infant Death With Dysgenesis Of The Testes Syndrome	Exaggerated startle response	OMIM:608800
Osteoglosphonic Dysplasia	Rhizomelia, Tooth agenesis, Micrognathia, Cryptorchidism, Protruding ear, Multiple unerupted teet...	ORPHA:2645
Faciocardiomelic Syndrome	Dental malocclusion, Long philtrum, Hyperplasia of the maxilla, Telecanthus, Micrognathia, Polyda...	OMIM:612731
Glycosylphosphatidylinositol Biosynthesis Defect 17	Dysplastic corpus callosum, Microcephaly	OMIM:618010
Gm2-Gangliosidosis, Ab Variant	Spastic tetraparesis, Chorea, Blindness, Paralysis, Abnormal pyramidal sign, Apathy, Hypertonia, ...	OMIM:272750
Gyrate Atrophy Of Choroid And Retina	Posterior subcapsular cataract, Blindness, Nyctalopia, Myopia, Visual impairment	OMIM:258870
Keratoderma Hereditarium Mutilans With Ichthyosis	Alopecia, Palmoplantar keratoderma, Honeycomb palmoplantar hyperkeratosis, Nail dystrophy, Palmop...	ORPHA:79395
Linear Skin Defects With Multiple Congenital Anomalies 3	Thyroid C cell hyperplasia, Dilated cardiomyopathy, Lacrimal duct atresia, Histiocytoid cardiomyo...	OMIM:300952
Pulmonary Non-Tuberculous Mycobacterial Infection	Mycobacterium abscessus abscessus infection, Diarrhea, Disseminated nontuberculous mycobacterial ...	ORPHA:411703
Neurodegeneration With Brain Iron Accumulation 3	Blepharospasm, Spasticity, Laryngeal dystonia, Chorea, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:606159
Retinitis Pigmentosa 6	Recurrent respiratory infections, Constriction of peripheral visual field, Nyctalopia	OMIM:312612
Glycogen Storage Disease Due To Phosphoglycerate Kinase 1 Deficiency	Blindness, Reticulocytosis, Tremor, Ataxia, Hemolytic anemia, Decreased hemoglobin concentration	ORPHA:713
Cog8-Cdg	Protein-losing enteropathy, Elevated circulating hepatic transaminase concentration, Spontaneous ...	ORPHA:95428
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, High, narrow palate, Broad nasal tip, Downturned co...	OMIM:619950
Hereditary Cryohydrocytosis With Reduced Stomatin	Decreased thalamic volume, Intracerebral periventricular calcifications, Microcephaly, Cerebral w...	ORPHA:168577
Cutis Laxa, Autosomal Recessive, Type Iiia	Hypotelorism, Brachycephaly, Hypertelorism, Athetosis, Frontal bossing	OMIM:219150
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 2	Cataract, Peters anomaly, Microphthalmia, Buphthalmos, Persistent pupillary membrane	OMIM:613150
Microgastria-Limb Reduction Defect Syndrome	Anophthalmia, Microphthalmia	ORPHA:2538
Aregenerative Anemia	Bone marrow hypocellularity, Depression, Abnormal bleeding, Bruising susceptibility, Pancytopenia...	ORPHA:101096
Homocystinuria Due To Methylene Tetrahydrofolate Reductase Deficiency	Spastic paraparesis, Abnormal circulating enzyme concentration or activity, Hemiparesis, Lethargy...	ORPHA:395
Neonatal Inflammatory Skin And Bowel Disease	Horizontal eyebrow, Chapped lip, Anal fissure, Bloody diarrhea, Chronic monilial nail infection, ...	ORPHA:294023
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Cerebellar vermis hypoplasia, Choanal atresia, Hypoplastic anterior commissure, Cleft lip, Hypopl...	OMIM:616975
Neurodegeneration And Seizures Due To Copper Transport Defect	Short tibia, Tricuspid regurgitation, Talipes equinovarus, Lethargy, Cerebral visual impairment, ...	OMIM:620306
Neurodevelopmental Disorder With Hypotonia And Brain Abnormalities	Plagiocephaly, Hypoplasia of the pons, Hypotelorism, Agenesis of corpus callosum, Cerebellar hypo...	OMIM:619512
Peroxisome Biogenesis Disorder 1A (Zellweger)	Hypoplastic olfactory lobes, Cerebral cortical atrophy, High, narrow palate, Polymicrogyria, Apla...	OMIM:214100
Severe Growth Deficiency-Strabismus-Extensive Dermal Melanocytosis-Intellectual Disability Syndrome	Cerebral cortical atrophy, Lateral ventricle dilatation, Hypoplasia of the corpus callosum, Dyspl...	ORPHA:488627
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Protruding tongue, Cerebellar hypoplasia, Short philtrum, Convex nasal ri...	OMIM:300963
Retinal Cone Dystrophy 3A	Dyschromatopsia, High myopia, Reduced visual acuity, Nyctalopia, Photophobia	OMIM:610024
Amyloidosis Of Gingiva And Conjunctiva With Impaired Intellectual Development	Opacification of the corneal stroma, Blindness	OMIM:204850
Retinitis Pigmentosa 88	Reduced visual acuity, Attenuation of retinal blood vessels, Nyctalopia	OMIM:618826
Ramon Syndrome	Delayed eruption of teeth, Hearing impairment, Hypertrichosis, Axenfeld anomaly, Telangiectasia, ...	OMIM:266270
Familial Mediterranean Fever	Diarrhea, Vomiting, Erysipelas, Aphthous ulcer, Leukocytosis, Splenomegaly, Chronic constipation,...	OMIM:249100
Mitochondrial Complex I Deficiency, Nuclear Type 9	Lethargy, Feeding difficulties, Neonatal death	OMIM:618232
Fetal Alcohol Syndrome	Short nose, Microphthalmia	ORPHA:1915
Chylomicron Retention Disease	Steatorrhea, Diarrhea, Vomiting, Fat malabsorption	ORPHA:71
14Q22Q23 Microdeletion Syndrome	Optic nerve aplasia, Anophthalmia	ORPHA:264200
Hypotonia, Infantile, With Psychomotor Retardation And Characteristic Facies 1	Microcephaly, Brachycephaly	OMIM:615419
Ileal Neuroendocrine Tumor	Arrhythmia, Abnormal bowel sounds, Functional intestinal obstruction, Right ventricular failure, ...	ORPHA:100078
Smith-Magenis Syndrome	Pain insensitivity, Brachycephaly, Impaired pain sensation, Deeply set eye	OMIM:182290
Branchioskeletogenital Syndrome	Depressed nasal bridge, Bifid uvula, Broad nasal tip, Carious teeth, Downturned corners of mouth,...	ORPHA:1299
Fanconi Anemia, Complementation Group I	Optic nerve hypoplasia, Astigmatism, Microphthalmia	OMIM:609053
Non-24-Hour Sleep-Wake Syndrome	Depression, Blindness, Abnormal pineal melatonin secretion	ORPHA:73267
Meier-Gorlin Syndrome 4	Hypoplasia of the maxilla, Thick lower lip vermilion, Micrognathia, Narrow mouth, Microcephaly	OMIM:613804
Amelogenesis Imperfecta, Type Ie	Amelogenesis imperfecta, Enamel hypoplasia, Anterior open-bite malocclusion, Abnormal dentin morp...	OMIM:301200
Hypophosphatemic Rickets And Hyperparathyroidism	Hypophosphatemic rickets, Rickets	OMIM:612089
Lenz-Majewski Hyperostotic Dwarfism	Cerebral cortical atrophy, Choanal atresia, Microglossia, Abnormality of the dentition, Anteriorl...	OMIM:151050
Mend Syndrome	Low-set ears, Aortic valve stenosis, Overlapping toe, Micrognathia, Overlapping fingers, Cryptorc...	OMIM:300960
Noonan Syndrome 13	Plagiocephaly, Cavum septum pellucidum, Microcephaly, Attention deficit hyperactivity disorder, H...	OMIM:619087
Congenital Microcoria	Iris hypopigmentation, Nuclear cataract, Megalocornea, Blindness, Astigmatism, Blurred vision, Co...	ORPHA:566
Thyroid Lymphoma	Hashimoto thyroiditis, Dysphagia, Lymphadenopathy, Goiter	ORPHA:97285
Zinc Deficiency, Transient Neonatal	Alopecia, Eczematoid dermatitis	OMIM:608118
Meier-Gorlin Syndrome 5	Hypoplasia of the maxilla, Long philtrum, Micrognathia, Submucous cleft hard palate, Microcephaly...	OMIM:613805
Vulto-Van Silfhout-De Vries Syndrome	Pain insensitivity, Brachycephaly, Frontal bossing	OMIM:615828
Genitopatellar Syndrome	Anal stenosis, Malrotation of small bowel, Delayed eruption of teeth, Hearing impairment, Downsla...	OMIM:606170
Kapur-Toriello Syndrome	Cataract, Iris coloboma, Microphthalmia	OMIM:244300
Cataract 5, Multiple Types	Nuclear cataract, Pulverulent cataract, Lamellar cataract, Anterior polar cataract, Zonular cataract	OMIM:116800
Bardet-Biedl Syndrome 3	Tricuspid regurgitation, Postaxial polydactyly, Brachydactyly, Nyctalopia, Visual impairment	OMIM:600151
Night Blindness, Congenital Stationary, Type 1F	Reduced visual acuity, High myopia, Nyctalopia, Congenital stationary night blindness	OMIM:615058
Spondylospinal Thoracic Dysostosis	Hypoplasia of the maxilla, Micrognathia	OMIM:601809
Weismann-Netter Syndrome	Fibular bowing, Delayed eruption of permanent teeth, Anterior tibial bowing, Lateral femoral bowing	OMIM:112350
Gillessen-Kaesbach-Nishimura Syndrome	Microcephaly, Brachycephaly, Proptosis, Hypertelorism	OMIM:263210
Heart And Brain Malformation Syndrome	Wide nasal bridge, Microphthalmia	OMIM:616920
Kapur-Toriello Syndrome	Iris coloboma, Microphthalmia	ORPHA:2328
Fused Mandibular Incisors	Abnormality of the dentition, Advanced eruption of teeth	ORPHA:2287
Abetalipoproteinemia	Fat malabsorption	OMIM:200100
7Q31 Microdeletion Syndrome	Hypoplasia of the maxilla, Hypoplasia of the olfactory bulb, Long philtrum, Prominent nose, Wide ...	ORPHA:251061
Erdheim-Chester Disease	Increased bone mineral density, Osteolysis, Osteomyelitis	ORPHA:35687
Auricular Abnormalities-Cleft Lip With Or Without Cleft Palate-Ocular Abnormalities Syndrome	Microcephaly, Plagiocephaly	ORPHA:77300
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hepatic fibrosis, Periportal fibrosis, Portal hypertension, Splenomegaly, Hepatic cysts, Neonatal...	OMIM:263200
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Alpha-Mannosidosis, Infantile Form	Cerebral cortical atrophy, Proptosis, Chiari malformation, Cranial hyperostosis, Cerebellar atrop...	ORPHA:309282
3Q29 Microdeletion Syndrome	Cataract, Short nose, Microphthalmia	ORPHA:65286
3Mc Syndrome 2	Wide nasal bridge, Downturned corners of mouth, Cleft upper lip, Depressed nasal tip, Prominent n...	OMIM:265050
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Early-Onset Seizures-Distal Limb Anomalies-Facial Dysmorphism-Global Developmental Delay Syndrome	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly...	ORPHA:505237
Pierson Syndrome	Cataract, Hypoplasia of the iris, Rieger anomaly, Uveal ectropion, Macular hypoplasia, Hypoplasia...	OMIM:609049
Facial Dysmorphism-Developmental Delay-Behavioral Abnormalities Syndrome Due To Wac Point Mutation	Branchial anomaly	ORPHA:466950
Mitochondrial Complex V (Atp Synthase) Deficiency, Nuclear Type 1	Dysplastic corpus callosum, Microcephaly	OMIM:604273
Tooth Agenesis, Selective, X-Linked, 1	Aplasia of the maxilla, Selective tooth agenesis, Tooth agenesis, Agenesis of molar, Agenesis of ...	OMIM:313500
Beck-Fahrner Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Periventricular leukomalacia, Microcephaly	OMIM:618798
Bryant-Li-Bhoj Neurodevelopmental Syndrome 2	Plagiocephaly, Microcephaly, Brachycephaly, Dolichocephaly, Frontal bossing	OMIM:619721
Developmental And Epileptic Encephalopathy 31B	Reduced cerebral white matter volume, Secondary microcephaly, Gingival overgrowth, Protruding ton...	OMIM:620352
Kenny-Caffey Syndrome, Type 2	Thickened cortex of long bones, Increased bone mineral density	OMIM:127000
Ornithine Transcarbamylase Deficiency, Hyperammonemia Due To	Vomiting, Episodic ataxia, Elevated circulating aspartate aminotransferase concentration, Letharg...	OMIM:311250
Oligomeganephronia	Branchial cyst	ORPHA:2260
Singleton-Merten Syndrome 1	Aortic valve stenosis, Carious teeth, Hypoplastic distal radial epiphyses, Genu valgum, Talipes e...	OMIM:182250
Mitochondrial Complex Iv Deficiency, Nuclear Type 10	Microphthalmia	OMIM:619053
Solitary Rectal Ulcer Syndrome	Hematochezia, Stercoral ulcer, Anal fissure, Tenesmus, Bloody diarrhea, Chronic constipation, Epi...	ORPHA:209964
Congenital Hypotonia, Epilepsy, Developmental Delay, And Digital Anomalies	Microphthalmia	OMIM:618494
Robinow-Sorauf Syndrome	Plagiocephaly, Shallow orbits, Hypertelorism, Craniosynostosis, Pansynostosis	OMIM:180750
Splenogonadal Fusion With Limb Defects And Micrognathia	Multiple unerupted teeth, Micrognathia, Crowded maxillary incisors, Stillbirth	OMIM:183300
Nephroblastoma	Aniridia, Neoplasm of the liver, Lymphadenopathy, Abdominal pain, Hypertension	ORPHA:654
Hemophilia A	Gingival bleeding, Epistaxis, Bruising susceptibility, Petechiae, Muscle hemorrhage, Persistent b...	OMIM:306700
Meckel Syndrome, Type 5	Microphthalmia	OMIM:611561
Intellectual Developmental Disorder With Microcephaly And Pontine And Cerebellar Hypoplasia	Plagiocephaly, Hypoplasia of the pons, Dilated fourth ventricle, Cerebellar hypoplasia, Microceph...	OMIM:300749
Chromosome 2Q37 Deletion Syndrome	Pain insensitivity, Brachycephaly, Deeply set eye	OMIM:600430
Inverted Duplicated Chromosome 15 Syndrome	Microcephaly, Brachycephaly, Deeply set eye	ORPHA:3306
Developmental And Epileptic Encephalopathy 84	Microcephaly, Chorea, Plagiocephaly, Deeply set eye	OMIM:618792
Castleman Disease	Restrictive cardiomyopathy, Nausea and vomiting, Follicular hyperplasia, Intestinal obstruction, ...	ORPHA:160
Acyl-Coa Dehydrogenase, Short-Chain, Deficiency Of	Cardiomyopathy, Lethargy, Abnormal pyramidal sign, Sutural cataract, Ataxia, Feeding difficulties	OMIM:201470
Intellectual Developmental Disorder, Autosomal Dominant 30, With Speech Delay And Behavioral Abnormalities	Brachycephaly, Hypertelorism	OMIM:616083
Cystinosis	Rickets	ORPHA:213
Neurodevelopmental Disorder With Hypotonia, Dysmorphic Facies, And Skeletal Anomalies, With Or Without Seizures	Pain insensitivity, Plagiocephaly, Periventricular white matter hyperintensities, Turricephaly, D...	OMIM:620224
Gracile Bone Dysplasia	Aniridia, Microphthalmia	OMIM:602361
Acrofrontofacionasal Dysostosis 2	Microcephaly, Brachycephaly, Proptosis, Hypertelorism	OMIM:239710
Unilateral Polymicrogyria	Epistaxis, Involuntary movements, Abnormal posturing, Pseudobulbar paralysis, Nasogastric tube fe...	ORPHA:268943
Telangiectasia, Hereditary Hemorrhagic, Type 2	Gastrointestinal angiodysplasia, Nasal mucosa telangiectasia, Cirrhosis, Clubbing, Polycythemia, ...	OMIM:600376
Multicentric Carpotarsal Osteolysis Syndrome	Hypoplasia of the maxilla, Micrognathia	OMIM:166300
Bardet-Biedl Syndrome 20	Male hypogonadism, Elevated circulating hepatic transaminase concentration, Retinal vascular tort...	OMIM:619471
Cold Agglutinin Disease	Diarrhea, Nausea and vomiting, Splenomegaly, Lymphadenopathy, Hepatomegaly, Hemolytic anemia	ORPHA:56425
Chronic Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529808
Acute Bilirubin Encephalopathy	Abnormal thalamic MRI signal intensity	ORPHA:529799
Acute Interstitial Pneumonia	Bronchiectasis, Reduced hematocrit, Cyanosis, Lymphadenopathy, Hypertension, Hypoxemia	ORPHA:79126
Melkersson-Rosenthal Syndrome	Inflammatory abnormality of the skin, Furrowed tongue, Lymphadenopathy, Macroglossia, Cheilitis	ORPHA:2483
Pericardial And Diaphragmatic Defect	Intestinal malrotation, Meckel diverticulum, Abnormal gastrointestinal tract morphology	ORPHA:2847
Early-Onset Progressive Diffuse Brain Atrophy-Microcephaly-Muscle Weakness-Optic Atrophy Syndrome	Cerebral cortical atrophy, Plagiocephaly, Cerebellar atrophy, Secondary microcephaly, Hypoplasia ...	ORPHA:496641
Glycerol Kinase Deficiency	Low-set ears, Vomiting, Downturned corners of mouth, Chronic pancreatitis, Cryptorchidism, Lethar...	OMIM:307030
Xeroderma Pigmentosum, Complementation Group B	Cataract, Microphthalmia	OMIM:610651
Yellow Fever	Diarrhea, Pancreatic hyperplasia, Excessive bleeding after a venipuncture, Elevated circulating a...	ORPHA:99829
Adenylosuccinase Deficiency	Cerebellar atrophy, Cerebral atrophy, Gait ataxia, Microcephaly, Brachycephaly	OMIM:103050
2Q23.1 Microdeletion Syndrome	Microcephaly, Brachycephaly, Ataxia	ORPHA:228402
Moebius Syndrome	Microphthalmia	OMIM:157900
Congenital Bile Acid Synthesis Defect Type 2	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	ORPHA:79303
Congenital Bile Acid Synthesis Defect Type 3	Hepatic failure, Cholestasis, Elevated circulating aspartate aminotransferase concentration, Hepa...	ORPHA:79302
Mycosis Fungoides	Psoriasiform dermatitis, Eczematoid dermatitis, Lymphadenopathy	OMIM:254400
Spastic Paraplegia 16, X-Linked	Hypoplasia of the maxilla	OMIM:300266
Distal 22Q11.2 Microduplication Syndrome	Low posterior hairline, Webbed neck, Branchial fistula, Hydrocephalus	ORPHA:261337
Frontofacionasal Dysplasia	Cataract, Microcornea, Microphthalmia, Iris coloboma, Short nose	OMIM:229400
Osteochondrodysplasia, Complex Lethal, Symoens-Barnes-Gistelinck Type	Cerebellar hypoplasia, Microcephaly, Brachycephaly, Hypertelorism	OMIM:616897
Steatocystoma Multiplex	Natal tooth	OMIM:184500
Exercise-Induced Malignant Hyperthermia	Hepatic failure, Hypotension, Abnormal pulse pressure, Abnormal bleeding, Decreased liver functio...	ORPHA:466650
Mitochondrial Complex Iii Deficiency, Nuclear Type 10	Cholelithiasis, Hypertrophic cardiomyopathy, Alopecia totalis, Persistent fetal circulation, Feed...	OMIM:618775
Blepharophimosis, Ptosis, And Epicanthus Inversus	Wide nasal bridge, Microcornea, Microphthalmia	OMIM:110100
Stevenson-Carey Syndrome	Microphthalmia	OMIM:611961
Multiple Benign Circumferential Skin Creases On Limbs	Microcornea, Microphthalmia	ORPHA:2505
Cone-Rod Dystrophy 2	Color vision defect, Metamorphopsia, Constriction of peripheral visual field, Blindness, Peripher...	OMIM:120970
Mitochondrial Dna Depletion Syndrome 13 (Encephalomyopathic Type)	Plagiocephaly, Cerebellar atrophy, Cerebral atrophy, Hypoplasia of the corpus callosum, Microceph...	OMIM:615471
Al Kaissi Syndrome	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Hypertelorism	OMIM:617694
Turcot Syndrome With Polyposis	Hematochezia, Melena, Diarrhea, Pituitary adenoma, Hearing impairment, Vomiting, Adenomatous colo...	ORPHA:99818
Medullary Thyroid Carcinoma	Diarrhea, Pheochromocytoma, Abnormal liver parenchyma morphology, Lymphadenopathy, Hyperhidrosis,...	ORPHA:1332
Ellis-Van Creveld Syndrome	Capitate-hamate fusion, Postaxial foot polydactyly, Natal tooth, Delayed eruption of teeth, Cleft...	OMIM:225500
Resistance To Thyrotropin-Releasing Hormone Syndrome	Depression, Increased circulating prolactin concentration, Prolonged neonatal jaundice, Lethargy,...	ORPHA:99832
Mosaic Variegated Aneuploidy Syndrome 1	Cerebral hypoplasia, Agenesis of corpus callosum, Cerebellar hypoplasia, Microcephaly, Brachyceph...	OMIM:257300
Skin Creases, Congenital Symmetric Circumferential, 1	Cerebellar vermis atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Hypert...	OMIM:156610
Gaucher Disease Type 3	Increased bone mineral density, Increased susceptibility to fractures, Osteolysis	ORPHA:77261
Down Syndrome	Clinodactyly, Protruding tongue, Acute megakaryocytic leukemia, Epicanthus, Anal atresia, Myelopr...	OMIM:190685
Pontocerebellar Hypoplasia, Hypotonia, And Respiratory Insufficiency Syndrome, Neonatal Lethal	Dysplastic corpus callosum, Cerebellar hypoplasia	OMIM:618810
Oculo-Palato-Cerebral Syndrome	Cataract, Leukocoria, Microphthalmia	ORPHA:2714
Stuve-Wiedemann Syndrome 1	Wide nasal base, Carious teeth, Smooth tongue, Pursed lips, Anteverted nares, Micrognathia, Malar...	OMIM:601559
Kagami-Ogata Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum, Anteverted nares,...	OMIM:608149
Plaa-Associated Neurodevelopmental Disorder	Dystonia, Contractures of the large joints, Exaggerated startle response, Hyperextensibility of t...	ORPHA:521426
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3	Lambdoidal craniosynostosis, Cerebellar atrophy, Cerebral atrophy, Cerebellar hypoplasia, Brachyc...	OMIM:615398
Hypotonia-Speech Impairment-Severe Cognitive Delay Syndrome	Hyperesthesia, Plagiocephaly, Hypoplasia of the corpus callosum, Microcephaly, Frontal bossing	ORPHA:371364
Developmental Delay With Or Without Intellectual Impairment Or Behavioral Abnormalities	Low-set ears, High, narrow palate, Hematochezia, High hypermetropia, Recurrent respiratory infect...	OMIM:619575
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Head tremor, Chorea, Gait ataxia, Limb ataxia, Tremor, Increased circulating antibody level, Conj...	OMIM:606002
Spinocerebellar Ataxia Type 7	Somatic sensory dysfunction, Congestive heart failure, Blindness, Visual loss, Dysmetria, Babinsk...	ORPHA:94147
Aica-Ribosiduria	Low-set ears, Congenital blindness, Wide mouth, Thin upper lip vermilion	ORPHA:250977
Developmental And Epileptic Encephalopathy 100	Depressed nasal bridge, Broad nasal tip, Cerebral atrophy, Polymicrogyria, Gingival overgrowth, T...	OMIM:619777
Craniofacial-Deafness-Hand Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Narrow naris, Malar flattening, Short nose	OMIM:122880
Antley-Bixler Syndrome	Proptosis, Turricephaly, Brachycephaly, Hypertelorism, Craniosynostosis, Frontal bossing	ORPHA:83
Tyrosinemia Type 2	Ataxia, Palmoplantar keratoderma, Visual loss, Malar flattening, Tremor, Hyperhidrosis, Corneal o...	ORPHA:28378
Hypercarotenemia And Vitamin A Deficiency, Autosomal Recessive	Bitot spots of the conjunctiva, Nyctalopia	OMIM:277350
Hypoparathyroidism-Retardation-Dysmorphism Syndrome	Patchy osteosclerosis	OMIM:241410
Joubert Syndrome 1	Cerebellar vermis hypoplasia, Hypoplasia of the brainstem, Anteverted nares, Triangular-shaped op...	OMIM:213300
Craniofacial Dysmorphism, Skeletal Anomalies, And Impaired Intellectual Development Syndrome 1	Wide nasal bridge, Hypoplasia of the maxilla, Cleft upper lip, Anteverted nares, Gingival overgro...	OMIM:213980
Hyperferritinemia With Or Without Cataract	Cataract, Nuclear cataract, Anterior subcapsular cataract, Pulverulent cataract	OMIM:600886
1Q21.1 Microdeletion Syndrome	Wide nasal bridge, Cataract, Iris coloboma, Microphthalmia	ORPHA:250989
Dent Disease	Delayed epiphyseal ossification, Rickets, Osteomalacia, Sparse bone trabeculae, Thin bony cortex,...	ORPHA:1652
Pallister-Hall Syndrome	Toe syndactyly, Auricular tag, Atresia of the external auditory canal, Natal tooth, Broad thumb, ...	ORPHA:672
Norrie Disease	Abnormal helix morphology, Cryptorchidism, Sensorineural hearing impairment, Abnormal retinal vas...	ORPHA:649
Cushing Disease	Acne, Lymphopenia, Capillary fragility, Adrenal hyperplasia, Intra-oral hyperpigmentation, Decrea...	ORPHA:96253
Desmosterolosis	Joint contracture of the hand, Generalized osteosclerosis, Arthrogryposis multiplex congenita	OMIM:602398
Joubert Syndrome 21	Anophthalmia	OMIM:615636
Stargardt Disease	Color vision defect, Central scotoma, Reduced visual acuity, Photopsia, Nyctalopia	ORPHA:827
Developmental Delay With Variable Intellectual Disability And Dysmorphic Facies	Wide nasal bridge, Microphthalmia	OMIM:620098
Van Den Ende-Gupta Syndrome	High, narrow palate, Depressed nasal bridge, Hypoplasia of the maxilla, Dental crowding, Underdev...	OMIM:600920
Triosephosphate Isomerase Deficiency	Normocytic anemia, Cholelithiasis, Spasticity, Congestive heart failure, Cholecystitis, Macrocyti...	OMIM:615512
Severe Intellectual Disability-Progressive Spastic Diplegia Syndrome	Broad nasal tip, Underdeveloped nasal alae, Long philtrum, Hypoplasia of the corpus callosum, Thi...	ORPHA:404473
Retinitis Pigmentosa 37	Posterior subcapsular cataract, Nuclear cataract, Constriction of peripheral visual field, Reduce...	OMIM:611131
Grant Syndrome	Brachycephaly, Frontal bossing	ORPHA:2097
Retinitis Pigmentosa 13	Constriction of peripheral visual field, Attenuation of retinal blood vessels, Nyctalopia, Subcap...	OMIM:600059
Bile Acid Synthesis Defect, Congenital, 4	Giant cell hepatitis, Hepatic failure, Elevated circulating hepatic transaminase concentration, I...	OMIM:214950
Lmna-Related Cardiocutaneous Progeria Syndrome	Aortic valve stenosis, Alopecia universalis, Premature graying of hair, Congestive heart failure,...	ORPHA:363618
Serkal Syndrome	Malrotation of small bowel	ORPHA:139466
Long Chain 3-Hydroxyacyl-Coa Dehydrogenase Deficiency	Cholestatic liver disease, Hypertrophic cardiomyopathy, Visual loss, Nyctalopia, Hepatomegaly, My...	ORPHA:5
Floating-Harbor Syndrome	Low-set ears, Carious teeth, Clinodactyly, Speech apraxia, Cryptorchidism, Hypermetropia, Broad f...	ORPHA:2044
Pseudodiastrophic Dysplasia	Brachycephaly, Frontal bossing	OMIM:264180
Intellectual Developmental Disorder, Autosomal Dominant 23	Brachycephaly	OMIM:615761
Diarrhea 10, Protein-Losing Enteropathy Type	Low-set ears, Protein-losing enteropathy, Hematochezia, Recurrent upper respiratory tract infecti...	OMIM:618183
17Q11 Microdeletion Syndrome	Low-set ears, Downslanted palpebral fissures, Abnormal central motor function, Abnormality of the...	ORPHA:97685
Spondylocarpotarsal Synostosis Syndrome	Cataract, Failure of eruption of permanent teeth, Carpal synostosis, Limited elbow extension, Sen...	OMIM:272460
Hyperoxaluria, Primary, Type I	Pathologic fracture, Increased bone mineral density	OMIM:259900
Neurodevelopmental Disorder With Intention Tremor, Pyramidal Signs, Dyspraxia, And Ocular Anomalies	Brachycephaly, Lateral ventricle dilatation	OMIM:619995
Fanconi-Bickel Syndrome	Osteopenia, Rickets	ORPHA:2088
Pelvis-Shoulder Dysplasia	Hydranencephaly, Microglossia, Micrognathia, Thick anterior alveolar ridges, Cleft palate	ORPHA:2839
Congenital Dyserythropoietic Anemia Type Iii	Gingival bleeding, Melena, Elevated circulating hepatic transaminase concentration, Increased mea...	ORPHA:98870
Spondyloepiphyseal Dysplasia Congenita	Micrognathia, Glossoptosis, Increased head circumference, Cleft palate	ORPHA:94068
20Q11.2 Microduplication Syndrome	Proptosis, Trigonocephaly, Short attention span, Microcephaly, Brachycephaly	ORPHA:363659
Hypogonadotropic Hypogonadism 26 With Or Without Anosmia	Diastema, Agenesis of molar, Cryptorchidism, Microdontia, Hypogonadotropic hypogonadism, Supernum...	OMIM:619718
Microcephaly 20, Primary, Autosomal Recessive	Optic nerve hypoplasia, Microphthalmia	OMIM:617914
Intellectual Disability-Hypotonia-Brachycephaly-Pyloric Stenosis-Cryptorchidism Syndrome	Craniosynostosis, Brachycephaly, Frontal bossing	ORPHA:314575
Fanconi Renotubular Syndrome 4 With Maturity-Onset Diabetes Of The Young	Rickets	OMIM:616026
Congenital Limbs-Face Contractures-Hypotonia-Developmental Delay Syndrome	Microcephaly, Brachycephaly, Hypertelorism, Ataxia	ORPHA:562528
Congenital Alveolar Capillary Dysplasia	Volvulus, Duodenal stenosis, Intestinal malrotation, Aganglionic megacolon, Tracheoesophageal fis...	ORPHA:210122
Okur-Chung Neurodevelopmental Syndrome	Wide nasal bridge, Anteverted nares, Micrognathia, Protruding tongue, Thin upper lip vermilion, M...	OMIM:617062
Joubert Syndrome 6	Hepatic fibrosis, Blindness, Oculomotor apraxia, Ataxia, Bile duct proliferation	OMIM:610688
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 7	Cataract, Optic nerve hypoplasia, Peters anomaly, Microphthalmia	OMIM:614643
Odontomicronychial Dysplasia	Slow-growing nails, Short nail, Premature eruption of permanent teeth, Thin nail	OMIM:601319
Failure Of Tooth Eruption, Primary	Hypodontia, Persistence of primary teeth, Failure of eruption of permanent teeth	OMIM:125350
Opitz-Kaveggia Syndrome	Plagiocephaly, Attention deficit hyperactivity disorder, Hypertelorism, Gray matter heterotopia, ...	OMIM:305450
Retinitis Pigmentosa 83	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:618173
Ovarian Cancer	Ovarian papillary adenocarcinoma, Breast carcinoma, Dysgerminoma	OMIM:167000
Cocaine Intoxication	Glomerulonephritis, Tubulointerstitial nephritis, Tachycardia, Abdominal pain, Mania, Intestinal ...	ORPHA:90068
Saethre-Chotzen Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Prominent crus of helix, Open bite, Prominent ...	ORPHA:794
Infantile Multisystem Neurologic-Endocrine-Pancreatic Disease	Ataxia, Secondary microcephaly, Dysmetria, Brachycephaly, Cerebellar hemisphere hypoplasia, Hyper...	ORPHA:456312
Robin Sequence With Cleft Mandible And Limb Anomalies	Low-set ears, Short tibia, Cleft mandible, Micrognathia, Narrow mouth, Talipes equinovarus, Short...	OMIM:268305
Intellectual Developmental Disorder, X-Linked, Syndromic 34	Speech apraxia, Open mouth, Narrow mouth, Cryptorchidism, Ataxia, Patent ductus arteriosus, High,...	OMIM:300967
Dextrocardia	Meckel diverticulum, Pancreatic hypoplasia, Abnormal EKG, Intestinal malrotation, Abnormality of ...	ORPHA:1666
Trisomy 20P	Plagiocephaly, Brachycephaly, Cognitive impairment, Hypertelorism, Dolichocephaly, Frontal bossing	ORPHA:261318
Van Der Woude Syndrome 2	Lip pit, Dental malocclusion, Cleft upper lip, Anodontia, Hypodontia, Cleft palate	OMIM:606713
Intellectual Developmental Disorder, X-Linked, Syndromic, Lubs Type	Pain insensitivity, Chorea, Microcephaly, Brachycephaly, Ataxia	OMIM:300260
Fructose-1,6-Bisphosphatase Deficiency	Hepatomegaly, Tachycardia, Lethargy, Reduced tissue fructose-1,6-bisphosphatase activity	OMIM:229700
Garg-Mishra Progeroid Syndrome	Microphthalmia	OMIM:620601
Proteasome-Associated Autoinflammatory Syndrome 4	Splenomegaly, Autoimmune hemolytic anemia, Myositis, Lymphadenopathy, Hepatomegaly, Panniculitis	OMIM:619183
Phace Association	Optic nerve hypoplasia, Developmental cataract, Microphthalmia	OMIM:606519
Fructose Intolerance, Hereditary	Gastrointestinal hemorrhage, Elevated circulating hepatic transaminase concentration, Vomiting, M...	OMIM:229600
Hypertelorism-Hypospadias-Polysyndactyly Syndrome	Abnormal cortical gyration, Proptosis, Polymicrogyria, Abnormality of neuronal migration, Brachyc...	ORPHA:2211
Zttk Syndrome	Wide nasal bridge, Depressed nasal bridge, Bifid uvula, Abnormality of the dentition, Hypoplasia ...	OMIM:617140
Retinitis Pigmentosa 72	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:616469
Neuroleptic Malignant Syndrome	Aspiration pneumonia, Elevated circulating alkaline phosphatase concentration, Arrhythmia, Tachyc...	ORPHA:94093
Lipodystrophy, Generalized, With Impaired Intellectual Development, Deafness, Short Stature, And Slender Bones	Hypoplasia of the maxilla	OMIM:608154
Intestinal Pseudoobstruction With Patent Ductus Arteriosus And Natal Teeth	Natal tooth	OMIM:243185
Teeth Present At Birth	Natal tooth	OMIM:187050
Spondylometaphyseal Dysplasia-Cone-Rod Dystrophy Syndrome	Ectopia pupillae, Lens subluxation, Corneal opacity, Microphthalmia	ORPHA:85167
Craniometadiaphyseal Osteosclerosis With Hip Dysplasia	Thickened cortex of long bones, Coarse metaphyseal trabecularization, Increased bone mineral density	OMIM:620558
Aica-Ribosiduria Due To Atic Deficiency	Low-set ears, Congenital blindness, Wide mouth, Thin upper lip vermilion	OMIM:608688
Retinitis Pigmentosa 66	Posterior subcapsular cataract, Constriction of peripheral visual field, Central scotoma, Reduced...	OMIM:615233
Gardner Syndrome	Abnormality of the dentition, Esophageal carcinoma, Gastrointestinal carcinoma, Adenomatous colon...	ORPHA:79665
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 4	Flexion contracture, Exaggerated startle response	OMIM:253800
Gigantiform Cementoma, Familial	Tooth malposition, Cementoma, Multiple impacted teeth	OMIM:137575
Adams-Oliver Syndrome 1	Aortic valve stenosis, Alopecia, Toe syndactyly, Small nail, Cleft upper lip, Supernumerary nippl...	OMIM:100300
Intellectual Developmental Disorder With Dysmorphic Facies, Seizures, And Distal Limb Anomalies	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Flat occiput	OMIM:617452
Cleidocranial Dysplasia 1	Absent paranasal sinuses, Hearing impairment, Micrognathia, Delayed eruption of primary teeth, Ab...	OMIM:119600
Behcet Syndrome	Hypopyon, Oral ulcer, Patchy alopecia, Iridocyclitis, Raynaud phenomenon, Erythema nodosum, Arthr...	OMIM:109650
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Narrow naris, Narrow nose, Micrognathia, Narrow mouth, Low insertio...	OMIM:616145
Retinitis Pigmentosa 14	Posterior subcapsular cataract, Retinal arteriolar constriction, Constriction of peripheral visua...	OMIM:600132
Lymphatic Filariasis	Lymphadenitis, Opportunistic infection, Opportunistic bacterial infection, Hypereosinophilia, Orc...	ORPHA:2035
Geroderma Osteodysplasticum	Abnormality of the dentition, Hypoplasia of the maxilla, Periodontitis, Malar flattening, Microce...	OMIM:231070
Retinal Dystrophy With Or Without Macular Staphyloma	Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal blood vessels, Central s...	OMIM:617547
Glutaric Acidemia Type 3	Lethargy	ORPHA:35706
Meckel Syndrome, Type 2	Microphthalmia	OMIM:603194
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Thin uppe...	OMIM:616078
Acrofrontofacionasal Dysostosis 1	Wide nasal bridge, Iris atrophy, Microphthalmia	OMIM:201180
Fuchs Endothelial Corneal Dystrophy	Abnormal corneal endothelium morphology, Visual loss, Abnormal Descemet membrane morphology, Redu...	ORPHA:98974
Immunodeficiency 55	Diarrhea, Absent natural killer cells, Eczematoid dermatitis, Lymphopenia, Lymphadenopathy, Neutr...	OMIM:617827
Gorlin-Chaudhry-Moss Syndrome	Abnormality of the dentition, Hypoplasia of the maxilla, Aplasia/Hypoplasia of the nasal bone, Ol...	ORPHA:2095
Fontaine Progeroid Syndrome	Micrognathia, Narrow mouth, Protruding tongue, Hypoplasia of the corpus callosum, Neonatal death,...	OMIM:612289
Acrofrontofacionasal Dysostosis	Cerebral cortical atrophy, Brachycephaly, Hypertelorism	ORPHA:1784
Myhre Syndrome	Bifid uvula, Gingival cleft, Craniofacial hyperostosis, Hypoplasia of the maxilla, Unilateral cle...	ORPHA:2588
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy, Death in childhood	OMIM:211530
Neurodevelopmental Disorder With Progressive Microcephaly, Spasticity, And Brain Anomalies	Contractures of the large joints, Exaggerated startle response	OMIM:617527
Papillorenal Syndrome	Cataract, Lens luxation, Microphthalmia	OMIM:120330
Retinitis Pigmentosa 77	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:617304
Fanconi Anemia, Complementation Group R	Microphthalmia	OMIM:617244
Wieacker-Wolff Syndrome, Female-Restricted	Microcephaly, Brachycephaly, Deeply set eye	OMIM:301041
Citrullinemia, Classic	Vomiting, Reduced tissue argininosuccinate synthetase activity, Lethargy, Cirrhosis, Protein avoi...	OMIM:215700
Cerebrofaciothoracic Dysplasia	Cerebral cortical atrophy, Cerebellar vermis hypoplasia, Hypoplasia of the corpus callosum, Brach...	ORPHA:1394
Retinitis Pigmentosa 10	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:180105
Radiohumeral Fusions With Other Skeletal And Craniofacial Anomalies	Craniosynostosis, Brachycephaly	OMIM:614416
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome	Cranial asymmetry	ORPHA:137634
Bardet-Biedl Syndrome 8	Brachycephaly	OMIM:615985
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Agenesis of corpus callosum, Bifid ...	OMIM:613091
Retinitis Pigmentosa 56	Posterior subcapsular cataract, Nuclear cataract, Attenuation of retinal blood vessels, Visual fi...	OMIM:613581
Craniopharyngioma	Increased circulating prolactin concentration, Hypopituitarism, Cerebral calcification, Abnormal ...	ORPHA:54595
Macrocephaly-Intellectual Disability-Left Ventricular Non Compaction Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Dysplastic corpus callosum, Thickened calvaria,...	ORPHA:466791
Medulloblastoma	Medulloblastoma	OMIM:155255
Phace Syndrome	Cataract, Heterochromia iridis, Microphthalmia, Sclerocornea, Lens coloboma, Iris coloboma, Optic...	ORPHA:42775
Sanjad-Sakati Syndrome	Patchy osteosclerosis	ORPHA:2323
Arthrogryposis, Cleft Palate, Craniosynostosis, And Impaired Intellectual Development	Trigonocephaly, Plagiocephaly, Craniosynostosis, Decreased calvarial ossification	OMIM:618265
Monosomy 13Q14	Wide nasal bridge, Cataract, Iris coloboma, Microphthalmia	ORPHA:1587
Retinitis Pigmentosa 60	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:613983
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Hyperphosphatasia With Impaired Intellectual Development Syndrome 2	Plagiocephaly, Anterior plagiocephaly, Left unicoronal synostosis, Microcephaly, Hypertelorism	OMIM:614749
Intellectual Developmental Disorder, Autosomal Dominant 53	Posterior plagiocephaly, Hypotelorism, Hyperintensity of cerebral white matter on MRI, Brachyceph...	OMIM:617798
Cone-Rod Dystrophy 8	Retinal arteriolar constriction, Blindness, Peripheral visual field loss, Nyctalopia, Photophobia	OMIM:605549
Achondrogenesis, Type Ia	Depressed nasal bridge, Hypoplastic nasal bridge, Anteverted nares, Protruding tongue, Stillbirth...	OMIM:200600
Steinfeld Syndrome	Aplasia of the nose, Iris coloboma, Microphthalmia	OMIM:184705
Familial Hypoaldosteronism	Hypotension, Diarrhea, Nausea and vomiting, Lethargy, Orthostatic hypotension, Feeding difficulti...	ORPHA:427
Mitochondrial Complex Iv Deficiency, Nuclear Type 5	Low-set ears, Spasticity, Micrognathia, Mitral regurgitation, Ataxia, Dysphagia, Hypertrophic car...	OMIM:220111
Combined Oxidative Phosphorylation Deficiency 53	Dysplastic corpus callosum, Secondary microcephaly	OMIM:619423
Pfeiffer Syndrome Type 1	Brachycephaly, Bicoronal synostosis, Proptosis, Hypertelorism	ORPHA:93258
Trisomy 18	Cataract, Microcornea, Microphthalmia, Iris coloboma, Short nose	ORPHA:3380
Mosaic Trisomy 16	Craniofacial asymmetry, Short forearm, Meckel diverticulum, Hearing impairment, Clinodactyly, Sho...	ORPHA:1708
Intellectual Disability-Dysmorphism-Hypogonadism-Diabetes Mellitus Syndrome	Hypoplasia of the maxilla, Cleft ala nasi, Narrow nasal base, Mandibular prognathia, Wide nose	ORPHA:3044
Fetal Trimethadione Syndrome	Microcephaly, Brachycephaly	ORPHA:1913
Retinitis Pigmentosa 25	Posterior subcapsular cataract, Constriction of peripheral visual field, Attenuation of retinal b...	OMIM:602772
Brachytelephalangic Chondrodysplasia Punctata	Depressed nasal ridge, Hypoplasia of the maxilla, Broad nasal tip, Nasal congestion, Thick nasal ...	ORPHA:79345
Mosaic Trisomy 1	Wide nasal bridge, Opacification of the corneal stroma, Microphthalmia	ORPHA:1692
Marden-Walker Syndrome	Microphthalmia	OMIM:248700
Multiple System Atrophy 1, Susceptibility To	Ataxia, Tremor, Iris atrophy, Rigidity, Babinski sign, Parkinsonism, Ptosis, Hypohidrosis, Orthos...	OMIM:146500
Tafro Syndrome	Increased circulating lactate dehydrogenase concentration, Hepatosplenomegaly, Leukocytosis, Sple...	ORPHA:457077
Ear-Patella-Short Stature Syndrome	High, narrow palate, Bifid uvula, Hypoplasia of the maxilla, Retrognathia, Micrognathia, Narrow m...	ORPHA:2554
Fryns Syndrome	Wide nasal bridge, Corneal opacity, Microphthalmia	ORPHA:2059
Aicardi Syndrome	Cerebellar vermis hypoplasia, Cleft upper lip, Polymicrogyria, Anteverted nares, Prominence of th...	OMIM:304050
Psoriasis 14, Pustular	Furrowed tongue, Geographic tongue	OMIM:614204
Carbonic Anhydrase Va Deficiency, Hyperammonemia Due To	Jaundice, Lethargy, Episodic vomiting	OMIM:615751
Retinitis Punctata Albescens	Congenital sensorineural hearing impairment, Peripheral visual field loss, Attenuation of retinal...	ORPHA:52427
Meckel Syndrome, Type 4	Microphthalmia	OMIM:611134
Neurodevelopmental Disorder With Hypotonia, Impaired Language, And Dysmorphic Features	Microcephaly, Plagiocephaly, Gait ataxia, Impaired pain sensation	OMIM:616579
Musk, Inability To Smell	Blindness	OMIM:254150
Scorpion Envenomation	Diarrhea, Hemifacial spasm, Premature ventricular contraction, Arrhythmia, Ataxia, Tachycardia, A...	ORPHA:466677
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Bulbous nose, Anteverted nares, Micrognathia, M...	ORPHA:96149
German Syndrome	Dolichocephaly, Brachycephaly	ORPHA:2077
Brachydactyly, Type E1	Type E brachydactyly, Multiple impacted teeth, Brachydactyly, Short metatarsal, Short metacarpal	OMIM:113300
Linear Skin Defects With Multiple Congenital Anomalies 1	Cataract, Peters anomaly, Microphthalmia, Sclerocornea, Iris coloboma	OMIM:309801
Hereditary Folate Malabsorption	Glossitis, Cerebral calcification, Cheilitis	ORPHA:90045
Aicardi Syndrome	Cleft upper lip, Polymicrogyria, Intestinal polyposis, Prominence of the premaxilla, Short philtr...	ORPHA:50
Distal Deletion 15Q	Abnormality of the dentition, Broad nasal tip, Micrognathia, Thin upper lip vermilion, Microcepha...	ORPHA:1596
Mitochondrial Dna Depletion Syndrome 15 (Hepatocerebral Type)	Hepatic failure, Elevated circulating hepatic transaminase concentration, Congestive heart failur...	OMIM:617156
Xq21 Microdeletion Syndrome	Dilatated internal auditory canal, Conductive hearing impairment, Dysdiadochokinesis, Stapes anky...	ORPHA:1435
Hyperphosphatasia-Intellectual Disability Syndrome	Ataxia, Plagiocephaly, Brachycephaly, Hypertelorism, Abnormal parietal bone morphology	ORPHA:247262
Distal Deletion 3P	Microcephaly, Brachycephaly, Cognitive impairment, Hypertelorism	ORPHA:1620
Pulmonary Capillary Hemangiomatosis	Diffuse alveolar hemorrhage, Right ventricular failure, Hemothorax, Cyanosis, Lymphadenopathy, El...	ORPHA:199241
Duane-Radial Ray Syndrome	Cataract, Iris coloboma, Optic disc hypoplasia, Microphthalmia	OMIM:607323
Basal Cell Nevus Syndrome 1	Wide nasal bridge, Cataract, Iris coloboma, Microphthalmia	OMIM:109400
Galloway-Mowat Syndrome 1	Hypoplasia of the iris, Opacification of the corneal stroma, Cataract, Microphthalmia	OMIM:251300
Microcephaly-Micromelia Syndrome	Neonatal death, Microphthalmia	OMIM:251230
Cap Polyposis	Atrophic gastritis, Hematochezia, Diarrhea, Constipation, Abdominal distention, Abdominal pain, C...	ORPHA:160148
Craniofrontonasal Syndrome	Coronal craniosynostosis, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Brachyc...	OMIM:304110
Hartnup Disease	Gingivitis, Glossitis	ORPHA:2116
Isolated Cleft Lip	Conductive hearing impairment, Velopharyngeal insufficiency, Non-midline cleft of the upper lip, ...	ORPHA:199302
Intellectual Disability-Hypotonic Facies Syndrome, X-Linked, 1	Wide nasal bridge, Depressed nasal bridge, Triangular nasal tip, Thick lower lip vermilion, Antev...	OMIM:309580
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects	Skull asymmetry, Hypotelorism, Microcephaly, Brachycephaly, Hypertelorism	OMIM:614701
Loeys-Dietz Syndrome 3	Mitral regurgitation, Knee osteoarthritis, Eosinophilic infiltration of the esophagus, Arachnodac...	OMIM:613795
Joubert Syndrome 14	Microphthalmia	OMIM:614424
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted	Abnormal cortical gyration, Hypotelorism, Hypoplasia of the corpus callosum, Cerebellar hypoplasi...	OMIM:300968
Neurologic, Endocrine, And Pancreatic Disease, Multisystem, Infantile-Onset 1	Cerebellar atrophy, Secondary microcephaly, Dysmetria, Brachycephaly, Progressive microcephaly, A...	OMIM:616263
Fanconi-Bickel Syndrome	Rickets, Osteomalacia	OMIM:227810
Charge Syndrome	Cataract, Unilateral microphthalmos, Anophthalmia, Microphthalmia, Iris coloboma	OMIM:214800
Osteootohepatoenteric Syndrome	Secretory diarrhea, Increased intestinal transit time, Villous atrophy, Ileoileal intussusception...	OMIM:619377
Combined Oxidative Phosphorylation Deficiency 12	Dysplastic corpus callosum, Leukoencephalopathy, Hypoplasia of the corpus callosum, Agenesis of c...	OMIM:614924
Hyperphosphatasia With Impaired Intellectual Development Syndrome 1	Cerebral cortical atrophy, Athetosis, Plagiocephaly, Hypertelorism	OMIM:239300
Microcephaly-Corpus Callosum Hypoplasia-Intellectual Disability-Facial Dysmorphism Syndrome	Plagiocephaly, Hypoplasia of the corpus callosum, Agenesis of corpus callosum, Hypertelorism, Oli...	ORPHA:457284
Lowry-Wood Syndrome	Elbow flexion contracture, Peripheral visual field loss, Limited elbow extension, Brachydactyly, ...	OMIM:226960
Jacobsen Syndrome	Microcornea, Macular hypoplasia, Microphthalmia, Iris coloboma, Short nose	OMIM:147791
Odontochondrodysplasia 2 With Hearing Loss And Diabetes	Dentinogenesis imperfecta, Periodontitis, Retrognathia, Short toe, Sensorineural hearing impairme...	OMIM:619269
Chromosome 1Q41-Q42 Deletion Syndrome	Microphthalmia	OMIM:612530
Oculocerebral Hypopigmentation Syndrome, Preus Type	Abnormality of the diencephalon, Aplasia/Hypoplasia of the cerebellum, Ataxia	ORPHA:2720
Autosomal Dominant Kenny-Caffey Syndrome	Carious teeth, Decreased testicular size, Persistence of primary teeth, Stenosis of the medullary...	ORPHA:93325
Cleidocranial Dysplasia 2	Hypoplasia of the maxilla, Supernumerary tooth, Delayed eruption of primary teeth	OMIM:620099
Intellectual Developmental Disorder And Retinitis Pigmentosa	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Reduced visual acuity, Nyct...	OMIM:618195
Microphthalmia With Limb Anomalies	True anophthalmia, Microphthalmia	ORPHA:1106
Aneurysm-Osteoarthritis Syndrome	Aortic regurgitation, Bifid uvula, Dental malocclusion, Retrognathia, Bruising susceptibility, Ca...	ORPHA:284984
Meier-Gorlin Syndrome 3	Hypoplasia of the maxilla, Microretrognathia, Micrognathia, Prominent nasal bridge, Narrow mouth,...	OMIM:613803
Late-Onset Retinal Degeneration	Abnormal best corrected visual acuity test, Abnormal anterior eye segment morphology, Visual loss...	ORPHA:67042
Parenteral Nutrition-Associated Cholestasis	Elevated gamma-glutamyltransferase level, Cholelithiasis, Hepatic fibrosis, Hepatic failure, Elev...	ORPHA:567983
Impacted Teeth, Multiple	Supernumerary tooth, Multiple impacted teeth	OMIM:308280
Osteopetrosis, Autosomal Recessive 7	Abnormal trabecular bone morphology, Femur fracture, Osteopetrosis	OMIM:612301
Neurofibroma	Intestinal bleeding, Recurrent otitis media, Enlargement of parotid gland, Palmar neurofibroma, A...	ORPHA:252183
Pouchitis	Hematochezia, Diarrhea, Tenesmus, Clostridium difficile colitis, Bowel urgency, Abdominal pain, A...	ORPHA:217067
Chromosome 16Q12 Duplication Syndrome	Cataract, High myopia, Reduced visual acuity, Nyctalopia, Paracentral scotoma, Photophobia, Trita...	OMIM:619649
Cousin Syndrome	Hydranencephaly, Microglossia, Micrognathia, Alveolar ridge overgrowth, Macrocephaly, Cleft palate	OMIM:260660
Ritscher-Schinzel Syndrome 3	Microphthalmia	OMIM:619135
Smith-Lemli-Opitz Syndrome	Micrognathia, Hypoplasia of the corpus callosum, Global brain atrophy, Hypoplasia of the frontal ...	OMIM:270400
Bleeding Disorder, Platelet-Type, 12	Epistaxis, Intestinal bleeding, Bruising susceptibility, Impaired platelet aggregation, Joint hem...	OMIM:605735
Acro-Renal-Ocular Syndrome	Cataract, Microcornea, Optic disc hypoplasia, Microphthalmia, Iris coloboma	ORPHA:959
Retinitis Pigmentosa 75	Attenuation of retinal blood vessels, Peripheral visual field loss, Mixed astigmatism, Nyctalopia...	OMIM:617023
Inflammatory Bowel Disease 11	Hematochezia, Inflammation of the large intestine, Diarrhea, Abdominal pain	OMIM:191390
Oculopharyngodistal Myopathy 1	Dilated cardiomyopathy, Bilateral ptosis, Hypertrophic cardiomyopathy, Paroxysmal atrial fibrilla...	OMIM:164310
Branchiooculofacial Syndrome	Cataract, Iris coloboma, Anophthalmia, Microphthalmia	OMIM:113620
Congenital Nephrotic Syndrome, Finnish Type	Delayed eruption of permanent teeth	ORPHA:839
Candidiasis, Familial, 8	Seborrheic dermatitis, Onychomycosis, Macroglossia, Cheilitis, Blepharitis, Chronic oral candidiasis	OMIM:615527
White-Sutton Syndrome	Cerebral atrophy, Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly, Hypertelorism, ...	OMIM:616364
Hypothyroidism, Congenital, Nongoitrous, 2	Abdominal distention, Goiter, Lethargy, Feeding difficulties in infancy, Constipation, Bradycardi...	OMIM:218700
Yunis-Varon Syndrome	High, narrow palate, Gingival recession, Broad secondary alveolar ridge, Anteverted nares, Premat...	ORPHA:3472
Combined Oxidative Phosphorylation Deficiency 58	Exaggerated startle response	OMIM:620451
ERI1-related disease	Proptosis, Trigonocephaly, Brachycephaly, Frontal bossing	OMIM:608739
Cutis Laxa, Autosomal Recessive, Type Ib	Depressed nasal bridge, Retrognathia, Bulbous nose, Micrognathia, Death in childhood, Neonatal de...	OMIM:614437
Retinitis Pigmentosa 43	Posterior subcapsular cataract, Attenuation of retinal blood vessels, Peripheral visual field los...	OMIM:613810
Juvenile Xanthogranuloma	Abnormal oral mucosa morphology, Asymmetry of iris pigmentation, Hyphema, Visual loss, Iritis, My...	ORPHA:158000
Okamoto Syndrome	Wide nasal bridge, Depressed nasal bridge, Anal stenosis, Exaggerated median tongue furrow, Downt...	ORPHA:2729
Severe Early-Childhood-Onset Retinal Dystrophy	Color vision defect, Posterior subcapsular cataract, Abnormal corneal endothelium morphology, Pos...	ORPHA:364055
Craniodigital-Intellectual Disability Syndrome	Brachycephaly	ORPHA:1514
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Microcephaly, Thin corpus callosum, Protruding tongue	OMIM:619580
Cutis Laxa, Autosomal Recessive, Type Iic	Hypoplasia of the maxilla, Broad nasal tip, Dental crowding, Broad columella, Long philtrum, Narr...	OMIM:617402
Autosomal Dominant Cutis Laxa	Low-set ears, Aortic regurgitation, Bronchiolitis, Vomiting, Small bowel diverticula, Congestive ...	ORPHA:90348
Cornelia De Lange Syndrome 3 With Or Without Midline Brain Defects	Plagiocephaly, Secondary microcephaly, Brachycephaly, Cognitive impairment, Primary microcephaly,...	OMIM:610759
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Microretrognathia, Downturned corners of mouth, Ankyloglossia, Primary microcephaly, Cleft palate	ORPHA:488642
Blepharophimosis-Intellectual Disability Syndrome, Ohdo Type	Microphthalmia	ORPHA:2728
Congenital Tracheal Stenosis	Meckel diverticulum, Duodenal stenosis, Abnormal stomach morphology, Abnormal gastrointestinal tr...	ORPHA:141127
Phakomatosis Pigmentokeratotica	Hyperesthesia, Hemiatrophy, Pheochromocytoma, Cryptorchidism, Hemiparesis, Patchy alopecia, Arrhy...	ORPHA:2874
Cerebrooculofacioskeletal Syndrome 4	Bilateral microphthalmos	OMIM:610758
Distal Renal Tubular Acidosis	Reduced bone mineral density, Rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:18
2P15P16.1 Microdeletion Syndrome	Cerebellar hypoplasia, Brachycephaly, Attention deficit hyperactivity disorder, Microcephaly	ORPHA:261349
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Downturned corners of mouth, Long philtrum, Anteverted nares, Micrognathia, Thin upper lip vermil...	ORPHA:444077
Radiation Proctitis	Hematochezia, Arteritis, Sepsis, Diarrhea, Tenesmus, Abnormal rectum morphology, Intestinal obstr...	ORPHA:70475
Joubert Syndrome 5	Congenital blindness, Reduced visual acuity, Oculomotor apraxia, Ptosis, Ataxia, Cleft palate	OMIM:610188
Congenital Sialidosis Type 2	Gingival overgrowth, Protruding tongue, Macrocephaly	ORPHA:93400
Osteoporosis-Pseudoglioma Syndrome	Cataract, Iris atrophy, Phthisis bulbi, Absent anterior chamber of the eye, Microphthalmia	OMIM:259770
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue, Cerebral atrophy	OMIM:230600
Meier-Gorlin Syndrome 1	Hypoplasia of the maxilla, Micrognathia, Narrow mouth, Death in infancy, Microdontia, Microcephal...	OMIM:224690
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Parkinson Disease 14, Autosomal Recessive	Upper limb postural tremor, Spasticity, Depression, Pill-rolling tremor, Resting tremor, Hand tre...	OMIM:612953
Baller-Gerold Syndrome	Proptosis, Brachyturricephaly, Hypotelorism, Brachycephaly, Hypertelorism, Frontal bossing	ORPHA:1225
Familial Multiple Lipomatosis	Bowing of the long bones, Functional intestinal obstruction, Premature eruption of permanent teet...	ORPHA:199276
Atelis Syndrome 2	Developmental cataract, Microphthalmia	OMIM:620185
Vertebral Anomalies And Variable Endocrine And T-Cell Dysfunction	Decreased response to growth hormone stimulation test, Brachycephaly, Attention deficit hyperacti...	OMIM:618223
Shprintzen-Goldberg Syndrome	High, narrow palate, Hypoplasia of the maxilla, Retrognathia, Anteverted nares, Micrognathia, Mic...	ORPHA:2462
Hypocalciuric Hypercalcemia, Familial, Type Iii	Osteomalacia	OMIM:600740
Neurodevelopmental Disorder With Craniofacial Dysmorphism And Skeletal Defects	Cerebellar vermis hypoplasia, Plagiocephaly, Microcephaly, Colpocephaly, Ataxia	OMIM:620083
Laminin Subunit Alpha 2-Related Congenital Muscular Dystrophy	Macroglossia, Abnormality of the temporomandibular joint, Open mouth, Protruding tongue, Pachygyr...	ORPHA:258
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Microcephaly, Attention deficit hyperactivity disorder, Plagiocephaly	OMIM:619227
Primary Hyperoxaluria	Generalized osteosclerosis, Recurrent fractures	ORPHA:416
Retinitis Pigmentosa And Erythrocytic Microcytosis	Leukopenia, Attenuation of retinal blood vessels, Elliptocytosis, Anisocytosis, Myopia, Hypochrom...	OMIM:616959
Lig4 Syndrome	Microcephaly, Brachycephaly, Hypotelorism	OMIM:606593
Myhre Syndrome	Hypoplasia of the maxilla, Cleft lip, Prominent nasal bridge, Narrow mouth, Malar flattening, Thi...	OMIM:139210
Occipital Horn Syndrome	Synostosis of joints, Osteopenia, Rickets, Osteomalacia, Joint hypermobility, Osteoporosis, Osteo...	ORPHA:198
Antley-Bixler Syndrome Without Genital Anomalies Or Disordered Steroidogenesis	Lambdoidal craniosynostosis, Coronal craniosynostosis, Proptosis, Brachycephaly, Frontal bossing	OMIM:207410
Blue Rubber Bleb Nevus	Intestinal bleeding, Volvulus, Abnormality of the liver, Iron deficiency anemia, Thrombocytopenia...	OMIM:112200
Sweeney-Cox Syndrome	Cerebellar hypoplasia, Brachycephaly, Hypertelorism, Flat occiput	OMIM:617746
Bilateral Perisylvian Polymicrogyria	Cerebellar vermis hypoplasia, Choanal atresia, Bilateral perisylvian polymicrogyria, Perisylvian ...	ORPHA:98889
Ohdo Syndrome, X-Linked	Wide nasal bridge, Microphthalmia	OMIM:300895
Leber Congenital Amaurosis 15	Color vision defect, Posterior subcapsular cataract, Photophobia, Constriction of peripheral visu...	OMIM:613843
Intellectual Developmental Disorder, Autosomal Dominant 66	Brachycephaly, Plagiocephaly	OMIM:619910
Hepatocellular Carcinoma	Hepatocellular carcinoma	OMIM:114550
Alagille Syndrome	Brachycephaly, Hypertelorism, Frontal bossing, Deeply set eye	ORPHA:52
Craniofacial Microsomia 1	Hypoplasia of the maxilla, Cleft upper lip, Micrognathia, Branchial anomaly, Malar flattening, Ag...	OMIM:164210
Trichohepatoneurodevelopmental Syndrome	Plagiocephaly, Cerebral atrophy, Cerebellar hypoplasia, Microcephaly, Brachycephaly, Hyperteloris...	OMIM:618268
Cree Impaired Intellectual Development Syndrome	Brachycephaly, Hypertelorism	OMIM:606851
Curry-Jones Syndrome	Iris coloboma, Microphthalmia	OMIM:601707
Neurodevelopmental Disorder With Dysmorphic Facies, Impaired Speech, And Hypotonia	Plagiocephaly, Impaired pain sensation, Attention deficit hyperactivity disorder, Dolichocephaly,...	OMIM:619005
Cooper-Jabs Syndrome	Brachycephaly, Frontal bossing	ORPHA:1488
Neurodevelopmental Disorder With Ataxia, Hypotonia, And Microcephaly	Dysplastic corpus callosum, Microcephaly, Hypoplasia of the corpus callosum	OMIM:618569
Multiple Myeloma	Functional abnormality of the gastrointestinal tract, Paresthesia, Splenomegaly, Increased circul...	ORPHA:29073
Aymé-Gripp Syndrome	Cerebral cortical atrophy, Plagiocephaly, Hypoplasia of the corpus callosum, Chiari type I malfor...	ORPHA:1272
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
Brachymorphism-Onychodysplasia-Dysphalangism Syndrome	Microcephaly, Brachycephaly, Biparietal narrowing, Frontal bossing	ORPHA:1292
White-Kernohan Syndrome	Dysplastic corpus callosum, Attention deficit hyperactivity disorder, Hypotelorism	OMIM:619426
Klatskin Tumor	Abdominal pain, Cholangiocarcinoma, Lymphadenopathy, Hepatomegaly, Jaundice, Extrahepatic cholest...	ORPHA:99978
Greenberg Dysplasia	Depressed nasal ridge, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Macroceph...	OMIM:215140
Pancreatoblastoma	Vomiting, Diarrhea, Abnormal lymph node morphology, Pancreatic calcification, Abdominal pain, Abd...	ORPHA:677
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy, Optic nerve hypoplasia	ORPHA:101085
Teebi-Shaltout Syndrome	Wide nasal bridge, Microphthalmia	OMIM:272950
Juvenile Sialidosis Type 2	Gingival overgrowth, Protruding tongue	ORPHA:93399
2Q31.1 Microdeletion Syndrome	Iris coloboma, Microphthalmia	ORPHA:251014
Retinitis Pigmentosa 49	Reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field loss, Nyctal...	OMIM:613756
Oculocerebrofacial Syndrome, Kaufman Type	Microcephaly, Brachycephaly, Flat occiput	ORPHA:2707
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum	Plagiocephaly, Hypertelorism, Dolichocephaly, Partial agenesis of the corpus callosum, Thin corpu...	OMIM:619480
Cdags Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Parietal foramina, Brachycephaly, Sagittal...	OMIM:603116
Central Incisors, Absence Of	Agenesis of central incisor	OMIM:302400
Cone-Rod Dystrophy 10	Attenuation of retinal blood vessels, Peripheral visual field loss, Progressive visual loss, Nyct...	OMIM:610283
Retinitis Pigmentosa 58	Severely reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field los...	OMIM:613617
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Carious teeth, Anal fissure, Esophageal stricture, Ankyloglossia, Narrow mouth, Abnormal esophagu...	ORPHA:89842
9Q33.3Q34.11 Microdeletion Syndrome	Plagiocephaly, Cerebellar vermis atrophy, Abnormal periventricular white matter morphology, Micro...	ORPHA:495818
Holoprosencephaly-Radial Heart Renal Anomalies Syndrome	Aplasia of the nose, Iris coloboma, Microphthalmia	ORPHA:3186
Metaphyseal Chondrodysplasia, Jansen Type	Brachycephaly, Proptosis, Hypertelorism	OMIM:156400
Neurodegeneration With Brain Iron Accumulation 1	Blepharospasm, Spasticity, Depression, Acanthocytosis, Tremor, Rigidity, Dystonia, Babinski sign,...	OMIM:234200
Retinitis Pigmentosa 41	Severely reduced visual acuity, Attenuation of retinal blood vessels, Peripheral visual field los...	OMIM:612095
9P13 Microdeletion Syndrome	Brachycephaly, Attention deficit hyperactivity disorder	ORPHA:324313
Baller-Gerold Syndrome	Lambdoidal craniosynostosis, Coronal craniosynostosis, Chiari malformation, Brachyturricephaly, P...	OMIM:218600
Rajab Interstitial Lung Disease With Brain Calcifications 1	Osteopenia, Rickets, Joint hypermobility, Thin bony cortex, Reduced bone mineral density	OMIM:613658
Monosomy 9P	Trigonocephaly, Calvarial skull defect, Agenesis of corpus callosum, Microcephaly, Brachycephaly,...	ORPHA:261112
Autosomal Recessive Cutis Laxa Type 1	Dermatochalasis, Recurrent pneumonia, Small bowel diverticula, Congestive heart failure, Recurren...	ORPHA:90349
Brachycephaly, Deafness, Cataract, Microstomia, And Impaired Intellectual Development	Cerebral atrophy, Hypoplasia of the corpus callosum, Brachycephaly, Shallow orbits, Hypertelorism	OMIM:601353
Contractural Arachnodactyly, Congenital	Dolichocephaly, Brachycephaly, Frontal bossing, Scaphocephaly	OMIM:121050
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Retinitis Pigmentosa 86	Attenuation of retinal blood vessels, Progressive visual loss, Cortical cataract, Nyctalopia	OMIM:618613
Phosphoribosylaminoimidazole Carboxylase Deficiency	Brachycephaly, Hypertelorism	OMIM:619859
Mesomelic Dysplasia, Nievergelt Type	Dolichocephaly, Brachycephaly	ORPHA:2633
Mosaic Variegated Aneuploidy Syndrome	Cataract, Corneal opacity, Microphthalmia	ORPHA:1052
Joubert Syndrome 2	Microphthalmia	OMIM:608091
Gastric Adenocarcinoma And Proximal Polyposis Of The Stomach	Abdominal pain, Fundic gland polyposis, Gastric adenocarcinoma, Melena	OMIM:619182
Brain Small Vessel Disease 1 With Or Without Ocular Anomalies	Microcornea, Ectopia pupillae, Hypoplasia of the iris, Astigmatism, Corneal neovascularization, P...	OMIM:175780
Pterygium Colli-Intellectual Disability-Digital Anomalies Syndrome	Brachycephaly, Hypertelorism	ORPHA:2988
Fibrochondrogenesis	Plagiocephaly, Proptosis, Hypertelorism	ORPHA:2021
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome	Hypoplasia of the corpus callosum, Cerebellar hemisphere hypoplasia, Short nose, Abnormal cerebra...	ORPHA:500150
Chromosome 17P13.1 Deletion Syndrome	Plagiocephaly, Turricephaly, Diffuse cerebral atrophy, Microcephaly, Brachycephaly	OMIM:613776
Galloway-Mowat Syndrome 3	Microphthalmia	OMIM:617729
Schinzel-Giedion Midface Retraction Syndrome	Opisthotonus, Thickened cortex of long bones, Sclerosis of skull base, Increased density of long ...	OMIM:269150
Kagami-Ogata Syndrome Due To Paternal Uniparental Disomy Of Chromosome 14	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Retrognathia, Long philtrum...	ORPHA:96334
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Pilomatrixoma	Pilomatrixoma	OMIM:132600
Short-Rib Thoracic Dysplasia 6 With Or Without Polydactyly	Cerebellar vermis hypoplasia, Microglossia, Hamartoma of tongue, Intestinal malrotation, Median c...	OMIM:263520
Multiple Joint Dislocations, Short Stature, And Craniofacial Dysmorphism With Or Without Congenital Heart Defects	Proptosis, Brachycephaly, Hypertelorism, Craniosynostosis, Frontal bossing	OMIM:245600
Autosomal Dominant Intellectual Disability-Craniofacial Anomalies-Cardiac Defects Syndrome	Craniosynostosis, Plagiocephaly, Microcephaly	ORPHA:457193
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 3	Cataract, Megalocornea, Hypoplasia of the retina, Microphthalmia, Buphthalmos, Opacification of t...	OMIM:253280
Pseudotrisomy 13 Syndrome	Microphthalmia	OMIM:264480
Bietti Crystalline Corneoretinal Dystrophy	Marginal corneal dystrophy, Corneal crystals, Constriction of peripheral visual field, High myopi...	OMIM:210370
Fanconi Anemia, Complementation Group N	Microphthalmia	OMIM:610832
Craniosynostosis-Anal Anomalies-Porokeratosis Syndrome	Coronal craniosynostosis, Plagiocephaly, Proptosis, Parietal foramina, Brachycephaly, Frontal bos...	ORPHA:85199
Cancer-Associated Retinopathy	Thymoma, Dyschromatopsia, Pancreatic adenocarcinoma, Constriction of peripheral visual field, Vis...	ORPHA:71505
Kbg Syndrome	Brachycephaly, Attention deficit hyperactivity disorder, Microcephaly, Hypertelorism	OMIM:148050
Intellectual Disability-Cardiac Anomalies-Short Stature-Joint Laxity Syndrome	Wide nasal bridge, Optic nerve hypoplasia, Iris coloboma, Microphthalmia	ORPHA:508498
Fanconi Anemia, Complementation Group F	Microphthalmia	OMIM:603467
Meckel Syndrome 14	Microphthalmia	OMIM:619879
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Peters anomaly, Hypoplasia of the fovea, Blue irides, Micro...	OMIM:619539
Ablepharon Macrostomia Syndrome	Depressed nasal bridge, Hypoplasia of the maxilla, Hypoplasia of the zygomatic bone, Underdevelop...	ORPHA:920
Trichotillomania	Alopecia	OMIM:613229
Witteveen-Kolk Syndrome	Short stature, Intrauterine growth retardation, Branchial fistula, Growth delay	OMIM:613406
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Abnormal cerebral white matter morphology, Microcephaly, Periventricular leukomalacia, Tongue atr...	ORPHA:466768
Achromatopsia 2	Myopic astigmatism, Reduced visual acuity, Achromatopsia, Nyctalopia, Photophobia, Hemeralopia	OMIM:216900
Developmental Delay, Impaired Speech, And Behavioral Abnormalities	Wide nasal bridge, High, narrow palate, Short uvula, Bulbous nose, Anteverted nares, Depressed na...	OMIM:619475
Cone-Rod Dystrophy 6	Dyschromatopsia, Peripheral visual field loss, Attenuation of retinal blood vessels, Progressive ...	OMIM:601777
Axenfeld-Rieger Syndrome, Type 1	Wide nasal bridge, Anal stenosis, Hypoplasia of the maxilla, Oligodontia, Thin upper lip vermilio...	OMIM:180500
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Achard Syndrome	Brachycephaly, Broad skull	OMIM:100700
Fanconi Anemia, Complementation Group L	Wide nasal bridge, Microphthalmia	OMIM:614083
Mend Syndrome	Cataract, Microphthalmia	ORPHA:401973
Skin Creases, Congenital Symmetric Circumferential, 2	Wide nasal bridge, Microcornea, Microphthalmia	OMIM:616734
Congenital Disorder Of Deglycosylation 1	Pain insensitivity, Chorea, Dysmetria, Microcephaly, Brachycephaly, Hypertelorism, Athetosis	OMIM:615273
Brachyphalangy, Polydactyly, And Tibial Aplasia/Hypoplasia	Wide nasal bridge, Popliteal pterygium, Microphthalmia, Antecubital pterygium, Short nose	OMIM:609945
Osteogenesis Imperfecta, Type Xx	Microcephaly, Brachycephaly, Plagiocephaly	OMIM:618644
Faciocardiorenal Syndrome	Plagiocephaly, Hypertelorism	ORPHA:1973
Fanconi Anemia, Complementation Group E	Microphthalmia	OMIM:600901
Pachyonychia Congenita 3	Gingivitis, Furrowed tongue, Oral leukoplakia, Chapped lip	OMIM:615726
Generalized Pustular Psoriasis	Cheilitis, Geographic tongue	ORPHA:247353
Pineoblastoma	Pinealoma, Amaurosis fugax, Paralysis, Reduced visual acuity, Lethargy, Progressive visual field ...	ORPHA:251909
Chromosome 4Q32.1-Q32.2 Triplication Syndrome	Plagiocephaly, Turricephaly, Microcephaly, Frontal bossing, Megalencephaly	OMIM:613603
Kaufman Oculocerebrofacial Syndrome	Microcephaly, Brachycephaly, Hypoplasia of the corpus callosum, Hypertelorism	OMIM:244450
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Acrofacial Dysostosis, Cincinnati Type	Choanal atresia, Depressed nasal bridge, Cleft lip, Hypoplasia of the maxilla, Bilateral choanal ...	OMIM:616462
Arthrogryposis, Distal, Type 4	Cranial asymmetry	OMIM:609128
Primordial Dwarfism-Immunodeficiency-Lipodystrophy Syndrome	Cataract, Microphthalmia	OMIM:620005
Infantile Nephropathic Cystinosis	Rickets	ORPHA:411629
Anauxetic Dysplasia 3	Plagiocephaly	OMIM:618853
Gorlin Syndrome	Cerebral calcification, Calcification of falx cerebri, Brachycephaly, Hypertelorism, Frontal bossing	ORPHA:377
Fanconi Anemia, Complementation Group A	Microphthalmia	OMIM:227650
Retinitis Pigmentosa 97	Reduced visual acuity, Amblyopia, Nyctalopia, Iris atrophy	OMIM:620422
Loeys-Dietz Syndrome 5	Dolichocephaly, Brachycephaly, Proptosis, Hypertelorism	OMIM:615582
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type	Thickened calvaria, Brachycephaly, Hypertelorism	OMIM:309583
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Tongue atrophy	ORPHA:99949
Saethre-Chotzen Syndrome	Hypoplasia of the maxilla, Prominent crus of helix, Narrow nose, Malar flattening, Cleft of chin,...	OMIM:101400
Hoxha-Aliu Syndrome	Brachycephaly	OMIM:620662
Intellectual Developmental Disorder, X-Linked, Syndromic, Turner Type	Cerebral atrophy, Trigonocephaly, Hypoplasia of the corpus callosum, Deeply set eye, Hypotelorism...	OMIM:309590
Primary Fanconi Renotubular Syndrome	Hypophosphatemic rickets, Increased susceptibility to fractures, Osteomalacia	ORPHA:3337
Fanconi Anemia, Complementation Group C	Microphthalmia	OMIM:227645
Generalized Juvenile Polyposis/Juvenile Polyposis Coli	Hematochezia, Abnormal bleeding, Duodenal polyposis, Multiple gastric polyps, Small intestinal po...	ORPHA:329971
Ayme-Gripp Syndrome	Craniofacial asymmetry, Cerebral atrophy, Chiari type I malformation, Brachycephaly, Hypertelorism	OMIM:601088
Lowe Oculocerebrorenal Syndrome	Joint contracture of the hand, Rickets, Camptodactyly of finger, Pathologic fracture, Osteomalaci...	OMIM:309000
Roberts Syndrome	Cataract, Microphthalmia	ORPHA:3103
Pura-Related Severe Neonatal Hypotonia-Seizures-Encephalopathy Syndrome	Osteopenia, Joint hypermobility, Exaggerated startle response, Osteoporosis, Dystonia	ORPHA:438213
Spondyloepimetaphyseal Dysplasia, Genevieve Type	Reduced cerebral white matter volume, Cerebral atrophy, Small basal ganglia, Hypoplasia of the co...	OMIM:610442
Intellectual Developmental Disorder, Autosomal Dominant 71, With Behavioral Abnormalities	Pain insensitivity, Cerebellar vermis hypoplasia, Posterior plagiocephaly, Scaphocephaly, Microce...	OMIM:620330
Tetraamelia Syndrome 1	Cataract, Microphthalmia	OMIM:273395
Retinitis Pigmentosa 45	Peripheral visual field loss, Nyctalopia	OMIM:613767
Short Stature, Brachydactyly, Impaired Intellectual Development, And Seizures	Short attention span, Deeply set eye, Microcephaly, Brachycephaly, Hypertelorism, Frontal bossing	OMIM:617157
Progressive Non-Infectious Anterior Vertebral Fusion	Brachycephaly, Hypertelorism	ORPHA:2062
Neurofaciodigitorenal Syndrome	Brachycephaly, Plagiocephaly, Hypertelorism	ORPHA:2673
Achondrogenesis, Type Ii	Brachycephaly, Frontal bossing	OMIM:200610
Cleft Palate, Psychomotor Retardation, And Distinctive Facial Features	Brachycephaly, Frontal bossing, Cerebral white matter hypoplasia, Hypoplasia of the corpus callosum	OMIM:616728
Cowden Syndrome	Furrowed tongue, Colorectal polyposis, Macrocephaly, Macroglossia, High palate, Hamartomatous pol...	ORPHA:201
Neurodevelopmental Disorder With Microcephaly, Epilepsy, And Hypomyelination	Exaggerated startle response	OMIM:618367
X-Linked Intellectual Disability, Snyder Type	Proptosis, Brachycephaly, Hypertelorism, Cerebral edema, Megalencephaly	ORPHA:3063
Cartilage-Hair Hypoplasia	Brachycephaly, Cognitive impairment	ORPHA:175
Neu-Laxova Syndrome 1	Cataract, Pterygium, Neonatal death, Stillbirth, Microphthalmia	OMIM:256520
Familial Hypocalciuric Hypercalcemia	Osteomalacia	ORPHA:405
Congenital Disorder Of Glycosylation, Type Iiw	Bilateral choanal atresia, Underdeveloped nasal alae, Ankyloglossia, Micrognathia, Concave nasal ...	OMIM:619525
Craniofrontonasal Dysplasia-Poland Anomaly Syndrome	Vertical orbital dystopia, Craniosynostosis, Plagiocephaly, Hypertelorism	ORPHA:1521
Atelosteogenesis Type Ii	Plagiocephaly, Hypertelorism	ORPHA:56304
Congenital Adrenal Hyperplasia Due To Cytochrome P450 Oxidoreductase Deficiency	Elevated circulating luteinizing hormone level, Chiari malformation, Turricephaly, Brachycephaly,...	ORPHA:95699
Chromosome 1P36 Deletion Syndrome, Distal	Leukoencephalopathy, Cerebral cortical atrophy, Lateral ventricle dilatation, Polymicrogyria, Hyp...	OMIM:607872
Enhanced S-Cone Syndrome	Cataract, Hemeralopia, Nyctalopia	OMIM:268100
B3Galt6-Related Spondylodysplastic Ehlers-Danlos Syndrome	Proptosis, Craniosynostosis, Plagiocephaly, Frontal bossing	ORPHA:536467
Intellectual Disability-Seizures-Hypophosphatasia-Ophthalmic-Skeletal Anomalies Syndrome	Craniosynostosis, Brachycephaly, Cerebellar atrophy	ORPHA:369837
Multicentric Osteolysis-Nodulosis-Arthropathy Spectrum	Brachycephaly	ORPHA:371428
Amelogenesis Imperfecta, Type Ig	Dagger-shaped pulp calcifications, Gingival overgrowth, Amelogenesis imperfecta, Gingival fibroma...	OMIM:204690
Fraser Syndrome 2	Microphthalmia	OMIM:617666
Fanconi Anemia, Complementation Group D2	Microphthalmia	OMIM:227646
Humeroradial Synostosis	Brachycephaly	OMIM:236400
Noonan Syndrome With Multiple Lentigines	Brachycephaly, Hypertelorism	ORPHA:500
Multiple Endocrine Neoplasia Type 2	Aganglionic megacolon, Ganglioneuromatosis, Thick vermilion border, Abnormal tongue morphology	ORPHA:653
Primrose Syndrome	Wide nasal bridge, Depressed nasal bridge, Hypoplasia of the maxilla, Broad nasal tip, Downturned...	OMIM:259050
Microcephalic Cortical Malformations-Short Stature Due To Rttn Deficiency	Wide nasal bridge, Bilateral microphthalmos, Optic nerve hypoplasia	ORPHA:468631
Fucosidosis	Brachycephaly	ORPHA:349
Holoprosencephaly-Postaxial Polydactyly Syndrome	Microphthalmia	ORPHA:2166
Chromosome 13Q14 Deletion Syndrome	Iris coloboma, Microphthalmia	OMIM:613884
Osteogenesis Imperfecta, Type Xi	Brachycephaly	OMIM:610968
Enamel-Renal Syndrome	Yellow-brown discoloration of the teeth, Delayed eruption of teeth, Abnormal dental enamel morpho...	ORPHA:1031
Postaxial Polydactyly-Dental And Vertebral Anomalies Syndrome	Plagiocephaly	ORPHA:2916
Ring Chromosome 7 Syndrome	Cerebral cortical atrophy, Plagiocephaly, Abnormal cerebellum morphology, Hypotelorism, Microceph...	ORPHA:1449
Cranioectodermal Dysplasia 2	Plagiocephaly, Dolichocephaly, Hypertelorism, Craniosynostosis, Frontal bossing, Cloverleaf skull	OMIM:613610
Duane Retraction Syndrome	Microcephaly, Plagiocephaly, Deeply set eye	ORPHA:233
Muscular Dystrophy-Dystroglycanopathy (Congenital With Brain And Eye Anomalies), Type A, 13	Decreased testicular size, Spasticity, Opacification of the corneal stroma, Blindness	OMIM:615287
Autosomal Recessive Faciodigitogenital Syndrome	Brachycephaly, Frontal bossing, Hypertelorism	ORPHA:1974
Congenital Fibrosis Of Extraocular Muscles	Plagiocephaly, Polymicrogyria	ORPHA:45358
Aprosencephaly And Cerebellar Dysgenesis	Aprosencephaly	OMIM:601374
Hyperparathyroidism, Transient Neonatal	Brachycephaly, Frontal bossing	OMIM:618188
1P36 Deletion Syndrome	Cerebral cortical atrophy, Agenesis of corpus callosum, Deeply set eye, Microcephaly, Brachycepha...	ORPHA:1606
Pilomatrixoma	Neoplasm of head and neck, Pilomatrixoma	ORPHA:91414
Cartilage-Hair Hypoplasia	Brachycephaly	OMIM:250250
Night Blindness, Congenital Stationary, Type 1B	Myopia, Hemeralopia, Nyctalopia, Congenital stationary night blindness	OMIM:257270
Chime Syndrome	Cerebral cortical atrophy, Brachycephaly, Hypertelorism	ORPHA:3474
Faundes-Banka Syndrome	Plagiocephaly, Deeply set eye, Primary microcephaly, Hypertelorism, Frontal bossing	OMIM:619376
Senior-Loken Syndrome 3	Congenital blindness, Visual loss	OMIM:606995
Stüve-Wiedemann Syndrome	Abnormality of the dentition, Smooth tongue, Trismus	ORPHA:3206
Arthrogryposis And Ectodermal Dysplasia	Microcephaly, Brachycephaly	OMIM:601701
Roberts-Sc Phocomelia Syndrome	Wide nasal bridge, Cataract, Stillbirth, Corneal opacity, Microphthalmia, Opacification of the co...	OMIM:268300
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narrow mouth, Oral mucosal bl...	ORPHA:79408
Hypomagnesemia 3, Renal	Rickets	OMIM:248250
Glycine Encephalopathy	Lethargy, Poor suck	ORPHA:407
Neurodevelopmental-Craniofacial Syndrome With Variable Renal And Cardiac Abnormalities	Exaggerated startle response, Joint hypermobility	OMIM:619522
Peters Plus Syndrome	Cerebral cortical atrophy, Aplasia/Hypoplasia of the corpus callosum, Microcephaly, Brachycephaly...	ORPHA:709
Juvenile Polyposis/Hereditary Hemorrhagic Telangiectasia Syndrome	Hematochezia, Gastrointestinal carcinoma, Epistaxis, Mitral regurgitation, Juvenile gastrointesti...	OMIM:175050
Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 4	Plagiocephaly	OMIM:618548
Choreoacanthocytosis	Cerebral cortical atrophy, Temporomandibular joint crepitus, Small basal ganglia, Protruding tong...	ORPHA:2388
Adrenocortical Carcinoma	Hypertrichosis, Palpitations, Adrenocorticotropic hormone deficiency, Hyperhidrosis, Abdominal pa...	ORPHA:1501
Mandibuloacral Dysplasia Progeroid Syndrome	Proptosis, Brachycephaly, Frontal bossing, Shallow orbits	OMIM:619127
X-Linked Female Restricted Facial Dysmorphism-Short Stature-Choanal Atresia-Intellectual Disability	Cerebellar vermis hypoplasia, Abnormal cortical gyration, Dilated fourth ventricle, Hypoplasia of...	ORPHA:480880
Generalized Arterial Calcification Of Infancy	Abnormal calcification of the carpal bones, Hypophosphatemic rickets, Fused cervical vertebrae, O...	ORPHA:51608
Hydrolethalus Syndrome 1	Stillbirth, Microphthalmia	OMIM:236680
Townes-Brocks Syndrome	Cataract, Limbal dermoid, Iris coloboma, Microphthalmia	ORPHA:857
Antley-Bixler Syndrome With Genital Anomalies And Disordered Steroidogenesis	Proptosis, Chiari malformation, Microcephaly, Brachycephaly, Hypertelorism, Craniosynostosis, Fro...	OMIM:201750
Congenital Myopathy 13	Microcephaly, Brachycephaly	OMIM:255995
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Brachycephaly, Limb ataxia, Hypoplasia of the corpus callosum	ORPHA:2072
Carney Complex	Abnormal hard palate morphology, Paranasal sinus neoplasm, Esophageal neoplasm, Neoplasm of the p...	ORPHA:1359
Bifid Nose With Or Without Anorectal And Renal Anomalies	Brachycephaly	OMIM:608980
Treacher Collins Syndrome 1	Bilateral microphthalmos	OMIM:154500
Hunter-Macdonald Syndrome	Brachycephaly	OMIM:611962
Trichorhinophalangeal Syndrome, Type Ii	Microcephaly, Plagiocephaly, Skull asymmetry, Deeply set eye	OMIM:150230
X-Linked Intellectual Disability, Armfield Type	Cerebral cortical atrophy, Brachycephaly	ORPHA:85276
Aspartylglucosaminuria	Thickened calvaria, Microcephaly, Brachycephaly, Cerebral atrophy	OMIM:208400
Intellectual Disability-Cataracts-Calcified Pinnae-Myopathy Syndrome	Plagiocephaly	ORPHA:3042
Spondyloepimetaphyseal Dysplasia, X-Linked	Hypoplasia of the maxilla	OMIM:300106
Pediatric Hepatocellular Carcinoma	Hepatic fibrosis, Vomiting, Hepatic necrosis, Portal vein thrombosis, Hepatomegaly, Abdominal pain	ORPHA:33402
Exudative Vitreoretinopathy 7		OMIM:617572

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 Ctnnb1

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 Ctnnb1.

No publications found that use IMPC mice or data for Ctnnb1.

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
Ctnnb1^{tm39547(pL1L2_GT0_DelLacZ_bsd)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctnnb1^{tm1a(EUCOMM)Hmgu}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors, ES Cells
Ctnnb1^{tm39547(L1L2_gt0)}	KO first allele (reporter-tagged insertion with conditional potential)	Targeting vectors
Ctnnb1^{tm1e(EUCOMM)Hmgu}	Targeted, non-conditional allele	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

The IMPC Newsletter

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

Subscribe to newsletter

My Genes

About the IMPC

Data

Human Diseases

Publications

News

Blog

Help

IMPC Cloud

Contact us