Gene: Krt4 MGI:96701

Not currently registered for phenotyping at IMPC

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

Gene Summary

Name:

keratin 4

Synonyms:

Krt2-4, Krt-2.4, K4

Order Alleles

IMPC Data Collections

No Body Weight Data
No Embryo Imaging Data
No Viability Data

IMPC Phenotype Summary

Significant

Not Significant

Not tested

View all our phenotype data below

Phenotypes

The IMPC applies a panel of phenotyping screens to characterise single-gene knockout mice by comparison to wild types. Click on the different tabs to visualise significant phenotypes identified by the IMPC, as well as all data that was measured.

lacZ Expression

Expression data not available

Associated Images

Images submitted by IMPC centres for a selection of procedures. Each set of images is available to view in our image comparator.

Phenotype associated images not available

Human diseases caused by Krt4 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 Krt4 (1 diseases)
Human diseases predicted to be associated with Krt4 (552 diseases)

The table below shows human diseases associated to Krt4 by orthology or direct annotation.

Disease	Similarity of phenotypes	Matching phenotypes	Source
White Sponge Nevus 1		Oral leukoplakia	OMIM:193900

The table below shows human diseases predicted to be associated to Krt4 by phenotypic similarity.

Disease	Matching phenotypes	Source
Epidermolysis Bullosa Simplex 1D, Generalized, Intermediate Or Severe, Autosomal Recessive	Ridged nail, Oral mucosal blisters, Onychogryposis	OMIM:601001
Blistering, Acantholytic, Of Oral And Laryngeal Mucosa	Erosion of oral mucosa, Oral mucosal blisters	OMIM:619226
Hereditary Gingival Fibromatosis	Gingival fibromatosis, Gingival overgrowth	ORPHA:2024
Periodontitis, Aggressive, 1	Gingival recession, Severe periodontitis, Premature loss of teeth	OMIM:170650
Pachyonychia Congenita 1	Oral leukoplakia, Nail dystrophy, Onychogryposis	OMIM:167200
Acatalasemia	Oral ulcer	OMIM:614097
White Sponge Nevus 1	Oral leukoplakia	OMIM:193900
Griscelli Syndrome, Type 3	Silver-gray hair, Large clumps of pigment irregularly distributed along hair shaft, White eyelashes	OMIM:609227
Dyskeratosis Congenita, Autosomal Recessive 3	Oral leukoplakia, Squamous cell carcinoma of the tongue, Nail dystrophy, Abnormality of skin pigm...	OMIM:613988
Tongue, Pigmented Fungiform Papillae Of	Abnormality of the tongue	OMIM:275250
Dyskeratosis, Hereditary Benign Intraepithelial	Oral leukoplakia	OMIM:127600
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse	Oral leukoplakia	OMIM:615735
Pachyonychia Congenita 2	Subungual hyperkeratosis, Dry hair, Sparse eyebrow, Natal tooth, Oral leukoplakia, Nail dystrophy...	OMIM:167210
Pierre Robin Syndrome	Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:261800
Melkersson-Rosenthal Syndrome	Furrowed tongue	OMIM:155900
Dyskeratosis Congenita, Autosomal Recessive 6	Alopecia, Carious teeth, Oral leukoplakia, Nail dystrophy, Abnormality of skin pigmentation, Spar...	OMIM:616353
Tylosis With Esophageal Cancer	Esophageal carcinoma, Oral leukoplakia	OMIM:148500
Isolated Pierre Robin Syndrome	Glossoptosis, Cleft palate	ORPHA:718
Pierre Robin Sequence With Facial And Digital Anomalies	Glossoptosis, Pierre-Robin sequence, Cleft palate, Hyperconvex nail	OMIM:311895
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 6	Oral leukoplakia, Nail dystrophy, Reticular hyperpigmentation, Premature graying of hair	OMIM:619767
Periodontal Ehlers-Danlos Syndrome	Periodontitis, Atrophy of alveolar ridges, Agenesis of permanent teeth, Gingival overgrowth, Prem...	ORPHA:75392
Hypertrichosis Lanuginosa Congenita	Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Gene...	ORPHA:2222
Griscelli Syndrome, Type 1	Silver-gray hair, Hypopigmentation of the skin, Melanin pigment aggregation in hair shafts, Large...	OMIM:214450
Dyskeratosis Congenita, Autosomal Dominant 6	Abnormality of the dentition, Intrauterine growth retardation, Oral leukoplakia, Esophageal stenosis	OMIM:616553
Ophthalmoplegia, Progressive, With Scrotal Tongue And Mental Deficiency	Furrowed tongue	OMIM:165150
Pachyonychia Congenita 3	Oral leukoplakia, Chapped lip, Onychogryposis of toenails, Furrowed tongue, Nail dystrophy, Gingi...	OMIM:615726
Polyposis of gastric fundus without polyposis coli	Multiple gastric polyps, Abnormal gastric mucosa morphology	OMIM:175505
Deafness, Cataract, Retinitis Pigmentosa, And Sperm Abnormalities	Cataract, Abnormality of skin pigmentation	OMIM:300719
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability Syndrome	Alopecia universalis, Abnormality of the dentition, Periodontitis, Sparse body hair, Melanocytic ...	ORPHA:1008
Albinism, Oculocutaneous, Type Iii	Partial albinism, Albinism, Red hair	OMIM:203290
Dyskeratosis Congenita, Autosomal Recessive 2	Oral leukoplakia, Reticulated skin pigmentation, Nail dystrophy	OMIM:613987
Pachyonychia Congenita	Onychogryposis of fingernail, Alopecia, Natal tooth, Oral leukoplakia, Onychogryposis of toenails...	ORPHA:2309
Tietz Syndrome	Hypopigmentation of the skin, Abnormal anterior chamber morphology, White eyebrow, Abnormality of...	ORPHA:42665
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant	Trichiasis, Sparse eyebrow, Oral leukoplakia, Furrowed tongue, Nail dystrophy, Sparse eyelashes, ...	OMIM:148210
Bone Marrow Failure Syndrome 5	Short stature, Growth delay, Oral leukoplakia	OMIM:618165
Hoyeraal-Hreidarsson Syndrome	Generalized hypopigmentation of hair, Oral leukoplakia, Premature graying of hair, Generalized hy...	ORPHA:3322
Dyskeratosis Congenita, Autosomal Recessive 1	Carious teeth, Small nail, Oral leukoplakia, Esophageal stricture, Pterygium of nails, Reticular ...	OMIM:224230
Uncombable Hair Syndrome	Coarse hair, White hair, Abnormal hair morphology, Patchy alopecia, Trichodysplasia, Woolly hair	ORPHA:1410
High-Grade Dysplasia In Patients With Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Dysphagia, Esophageal obstruction	ORPHA:231080
Dyskeratosis Congenita, Autosomal Dominant 2	Abnormality of the dentition, Oral leukoplakia, Premature graying of hair, White forelock, Nail d...	OMIM:613989
Congenital Heart Defect-Round Face-Developmental Delay Syndrome	Hypopigmentation of hair, Generalized hyperpigmentation, Narrow mouth, Abnormal oral cavity morph...	ORPHA:1355
Gingival Fibromatosis-Hypertrichosis Syndrome	Abnormality of the dentition, Delayed eruption of teeth, Thick eyebrow, Gingival overgrowth, Hirs...	ORPHA:2026
Cleft Palate With Or Without Ankyloglossia, X-Linked	Bifid uvula, Ankyloglossia, Cleft palate	OMIM:303400
Gingival Fibromatosis-Progressive Deafness Syndrome	Gingival fibromatosis, Delayed eruption of teeth, Gingival overgrowth	ORPHA:2027
Dyskeratosis Congenita, Autosomal Recessive 8	Inflammation of the large intestine, Sparse scalp hair, Oral leukoplakia, Nail dystrophy, Pancoli...	OMIM:620133
Cleft Palate-Lateral Synechia Syndrome	Cleft palate, Narrow mouth, Everted lower lip vermilion, Oral synechia	ORPHA:2016
Hereditary Acrokeratotic Poikiloderma	Gingival bleeding, Abnormality of the dentition, Irregular hyperpigmentation, Xerostomia, Dystrop...	ORPHA:2907
Griscelli Syndrome Type 3	Partial albinism, Hypopigmentation of hair, Iris hypopigmentation	ORPHA:79478
Peeling Skin With Leukonychia, Acral Punctate Keratoses, Cheilitis, And Knuckle Pads	Oral leukoplakia, Leukonychia, Angular cheilitis, Onycholysis, Cheilitis	OMIM:616295
Cleft Palate, Isolated	Gingival overgrowth, Cleft palate, Anterior open-bite malocclusion, Increased overbite	OMIM:119540
Burning Mouth Syndrome	Strawberry tongue, Tongue pain, Xerostomia, Smooth tongue, Parageusia, Abnormality of taste sensa...	ORPHA:353253
Dyskeratosis Congenita, Autosomal Dominant 1	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Ridged nail, Reticular hype...	OMIM:127550
Hemifacial Atrophy, Progressive	Dental malocclusion, Delayed eruption of teeth, Patchy alopecia, Tongue atrophy, Poliosis, Short ...	OMIM:141300
Focal Palmoplantar And Gingival Keratoderma	Subungual hyperkeratosis, Abnormal fingernail morphology, Gingival overgrowth, Circumungual hyper...	ORPHA:2200
Autosomal Dominant Generalized Dystrophic Epidermolysis Bullosa	Dystrophic toenail, Erosion of oral mucosa, Absent toenail, Nail dystrophy, Oral mucosal blisters...	ORPHA:231568
Gingival Fibromatosis-Facial Dysmorphism Syndrome	Delayed eruption of teeth, Abnormal dental morphology, Thick eyebrow, Gingival overgrowth, Exagge...	ORPHA:2025
Dyskeratosis Congenita, Digenic	Abnormality of the dentition, Alopecia, Oral leukoplakia, Nail dystrophy, Sparse eyelashes, Abnor...	OMIM:620040
Robin Sequence-Oligodactyly Syndrome	Abnormality of the dentition, Glossoptosis, Cleft palate	ORPHA:3104
Waardenburg Syndrome, Type 4B	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613265
Dyskeratosis Congenita	Abnormality of the dentition, Alopecia, Carious teeth, Periodontitis, Hypopigmented skin patches,...	ORPHA:1775
Yemenite Deaf-Blind Hypopigmentation Syndrome	Microcornea, White forelock, Numerous pigmented freckles, Iris coloboma, Patchy hypo- and hyperpi...	OMIM:601706
Kindler Syndrome	Anal stenosis, Carious teeth, Periodontitis, Spotty hyperpigmentation, Oral leukoplakia, Ridged n...	OMIM:173650
Auriculocondylar Syndrome 4	Glossoptosis, Narrow mouth, Cleft palate	OMIM:620457
Hypotrichosis 8	Abnormality of the dentition, Sparse eyebrow, Dry hair, Coarse hair, Fair hair, Ridged nail, Spar...	OMIM:278150
Waardenburg Syndrome, Type 2F	Hypopigmentation of the skin, White hair, Premature graying of hair, White forelock, Heterochromi...	OMIM:619947
Hidrotic Ectodermal Dysplasia	Generalized hypotrichosis, Alopecia, Sparse pubic hair, Brittle scalp hair, Small nail, Sparse ey...	ORPHA:189
Albinism, Oculocutaneous, Type Ib	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:606952
Dyskeratosis Congenita, Autosomal Dominant 3	Alopecia, Oral leukoplakia, Fine hair, Premature graying of hair, Nail dystrophy, Nail dysplasia,...	OMIM:613990
Hartnup Disorder	Short stature, Glossitis	OMIM:234500
Peroxisome Biogenesis Disorder 8A (Zellweger)	Cataract, Glossoptosis	OMIM:614876
Revesz Syndrome	Ridged fingernail, Oral leukoplakia, Fine hair, Nail dystrophy, Fine, reticulate skin pigmentatio...	OMIM:268130
Woolly Hair	Sparse lateral eyebrow, Fine hair, Sparse body hair, Slow-growing hair, Brittle hair, Abnormality...	ORPHA:170
Poirier-Bienvenu Neurodevelopmental Syndrome	Smooth philtrum, Protruding tongue, Open mouth, Downturned corners of mouth	OMIM:618732
Catel-Manzke Syndrome	Short stature, Oral synechia, Glossoptosis, Cleft palate	ORPHA:1388
Epidermolysis Bullosa Dystrophica, Autosomal Recessive	Cataract, Esophageal stricture, Corneal scarring, Narrow mouth, Oral mucosal blisters, Abnormal e...	OMIM:226600
Chromosome 4Q21 Deletion Syndrome	Severe short stature, Downturned corners of mouth, Long philtrum, Postnatal growth retardation, N...	OMIM:613509
Congenital Disorder Of Glycosylation, Type I/Iix	Abnormality of skin pigmentation	OMIM:212067
Angioma, Tufted	Abnormality of skin pigmentation	OMIM:607859
Ankyloglossia With Or Without Tooth Anomalies	Ankyloglossia, Supernumerary tooth	OMIM:106280
Woolly Hair Nevus	Congenital posterior occipital alopecia, Fine hair, Woolly scalp hair, Heterochromia iridis, Curl...	ORPHA:79414
Oculogastrointestinal Muscular Dystrophy	Spontaneous esophageal perforation, Abnormality of the gastrointestinal tract, Intestinal pseudo-...	ORPHA:1876
Albinism, Oculocutaneous, Type Iv	Albinism, Hypopigmentation of hair, Blue irides	OMIM:606574
Intellectual Developmental Disorder, X-Linked, Syndromic 12	Thick upper lip vermilion, Postnatal growth retardation, Wide mouth, Thick lower lip vermilion	OMIM:309545
Cerebroretinal Microangiopathy With Calcifications And Cysts 1	Intestinal bleeding, Oral leukoplakia, Fine hair, Premature graying of hair, Nail dystrophy, Nail...	OMIM:612199
Acquired Hypertrichosis Lanuginosa	Fine hair, Abnormal eyebrow morphology, Generalized hirsutism, Glossitis, Macroglossia, Hypopigme...	ORPHA:2221
Primary Immunodeficiency Syndrome Due To Lamtor2 Deficiency	Partial albinism, Hypopigmentation of hair	ORPHA:90023
Reynolds Syndrome	Gastroesophageal reflux, Xerostomia, Irregular hyperpigmentation, Abnormal gastric mucosa morphol...	ORPHA:779
Isolated Congenital Hypoglossia/Aglossia	Microglossia, Cleft palate	ORPHA:141152
Lelis Syndrome	Yellow nails, Carious teeth, Sparse lateral eyebrow, Furrowed tongue, Vitiligo, Perioral hyperpig...	ORPHA:140936
Hereditary Mucoepithelial Dysplasia	Cataract, Furrowed tongue, Gingival overgrowth, Tracheoesophageal fistula, Anorectal anomaly, Cor...	ORPHA:1839
Auriculocondylar Syndrome 2A	Mandibular condyle aplasia, Microglossia, Dental malocclusion, Dental crowding, Narrow mouth, Man...	OMIM:614669
Waardenburg Syndrome Type 2	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	ORPHA:895
Ménétrier Disease	Gastrointestinal hemorrhage, Gastroesophageal reflux, Stomach cancer, Abnormal gastric mucosa mor...	ORPHA:2494
Lipoid Proteinosis	Abnormal oral mucosa morphology, Microglossia, Thick lower lip vermilion, Alopecia of scalp, Abno...	ORPHA:530
Nk-Cell Enteropathy	Hematochezia, Colonic diverticula, Gastroesophageal reflux, Stercoral ulcer, Abnormal gastric muc...	ORPHA:263665
Cronkhite-Canada Syndrome	Cataract, Gastrointestinal carcinoma, Furrowed tongue, Stomach cancer, Intestinal polyposis, Gene...	ORPHA:2930
Visceral Myopathy 2	Barrett esophagus, Gastroesophageal reflux, Volvulus, Intestinal pseudo-obstruction, Intestinal m...	OMIM:619350
Deafness-Craniofacial Syndrome	Abnormality of the dentition, Short lingual frenulum, Abnormal palate morphology, Bifid tongue, S...	ORPHA:3241
Deaf Blind Hypopigmentation Syndrome, Yemenite Type	High, narrow palate, Iris hypopigmentation, Microcornea, Delayed eruption of teeth, Hypopigmented...	ORPHA:3214
Bazex-Dupre-Christol Syndrome	Coarse hair, Trichorrhexis nodosa, Furrowed tongue, Pili torti, Hyperpigmentation of the skin, Sp...	OMIM:301845
Griscelli Syndrome, Type 2	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:607624
Dermatopathia Pigmentosa Reticularis	Reticulate pigmentation of oral mucosa, Nail dystrophy, Alopecia of scalp, Reticular hyperpigment...	OMIM:125595
Ophthalmoplegia-Intellectual Disability-Lingua Scrotalis Syndrome	Furrowed tongue, Abnormality of retinal pigmentation	ORPHA:2743
Diffuse Gastric And Lobular Breast Cancer Syndrome	Atrophic gastritis, Cleft upper lip, Stomach cancer, Cleft palate	OMIM:137215
Plummer-Vinson Syndrome	Narrow mouth, Intra-oral hyperpigmentation, Esophageal web, Concave nail, Glossitis, Cheilitis, T...	ORPHA:54028
Dyskeratosis Congenita, X-Linked	Alopecia, Carious teeth, Oral leukoplakia, Premature graying of hair, Pterygium of nails, Ridged ...	OMIM:305000
Piebald Trait-Neurologic Defects Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Abnormal eyebrow morphology, Heterochrom...	ORPHA:2885
Amyotrophic Lateral Sclerosis 12 With Or Without Frontotemporal Dementia	Tongue fasciculations, Tongue atrophy	OMIM:613435
Regional Odontodysplasia	Carious teeth, Multiple unerupted teeth, Tooth abscess, Abnormality of dental color, Short dental...	ORPHA:83450
Ermine Phenotype	Spotty hyperpigmentation, White hair, Vitiligo, White eyebrow, White eyelashes, Abnormal iris pig...	OMIM:227010
Waardenburg Syndrome, Type 2A	Premature graying of hair, Partial albinism, White forelock, Numerous pigmented freckles, Heteroc...	OMIM:193510
Autosomal Dominant Otospondylomegaepiphyseal Dysplasia	Glossoptosis, Cleft palate, Long philtrum	ORPHA:166100
9q subtelomeric deletion syndrome	Protruding tongue, Synophrys	DECIPHER:52
Waardenburg-Shah Syndrome	Premature graying of hair, Abnormal eyebrow morphology, White forelock, Abnormality of retinal pi...	ORPHA:897
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence	Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence	OMIM:192445
Kyphoscoliosis-Lateral Tongue Atrophy-Hereditary Spastic Paraplegia Syndrome	Tongue atrophy	ORPHA:496689
Piebaldism	Hypopigmented skin patches, Long philtrum, White forelock, Heterochromia iridis, Aganglionic mega...	ORPHA:2884
Proton-Pump Inhibitor-Responsive Esophageal Eosinophilia	Gastroesophageal reflux, Eosinophilic microabscess formation in the esophagus, Esophagitis, Abnor...	ORPHA:411696
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia	Congenital pyloric atresia, Esophageal stenosis, Oral mucosal blisters	OMIM:619817
Piebald Trait	Partial albinism, White forelock, Absent pigmentation of the ventral chest, Heterochromia iridis,...	OMIM:172800
Recessive Dystrophic Epidermolysis Bullosa Inversa	Carious teeth, Esophageal stricture, Oral mucosal blisters, Gastrointestinal inflammation, Cornea...	ORPHA:79409
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Intermediate Form	Gastroesophageal reflux, Carious teeth, Irregular hyperpigmentation, Anal fissure, Esophageal str...	ORPHA:89842
Epilepsy, Progressive Myoclonic, 9	Microglossia	OMIM:616540
Waardenburg Syndrome, Type 4A	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:277580
Oculocutaneous Albinism, Type Viii	Iris transillumination defect, Hypopigmentation of hair, Hypopigmentation of the skin	OMIM:619165
Hermansky-Pudlak Syndrome 3	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin, Gingival bleeding	OMIM:614072
Waardenburg Syndrome Type 1	Hypopigmented skin patches, White hair, Premature graying of hair, Abnormal hair morphology, Clef...	ORPHA:894
Albinism, Oculocutaneous, Type Ii	Hypopigmentation of the skin, Freckles in sun-exposed areas, Blue irides, Albinism, Red hair, Hyp...	OMIM:203200
Polyneuropathy-Intellectual Disability-Acromicria-Premature Menopause Syndrome	Short stature, Furrowed tongue	ORPHA:2928
Portal Hypertension, Noncirrhotic, 1	Esophageal varix	OMIM:617068
Cataract-Intellectual Disability-Hypogonadism Syndrome	Tooth malposition, Furrowed tongue, Abnormal toenail morphology, Low posterior hairline, Short ph...	ORPHA:1387
Inflammatory Bowel Disease (Crohn Disease) 30	Protein-losing enteropathy, Esophagitis, Pancolitis, Ileitis, Abnormal intestine morphology, Gast...	OMIM:619079
Dubin-Johnson Syndrome	Abnormal gastric mucosa morphology	ORPHA:234
Intrinsic Factor And R Binder, Combined Congenital Deficiency Of	Absence of intrinsic factor	OMIM:243320
Myasthenic Syndrome, Congenital, 10	Tongue atrophy	OMIM:254300
Tracheoesophageal Fistula With Or Without Esophageal Atresia	Tracheoesophageal fistula, Esophageal atresia	OMIM:189960
Polyposis, Skin Pigmentation, Alopecia, And Fingernail Changes	Protein-losing enteropathy, Hematochezia, Gastrointestinal carcinoma, Xerostomia, Cataract, Hyper...	OMIM:175500
Oculocutaneous Albinism Type 3	Iris hypopigmentation, Generalized hypopigmentation of hair, Hypopigmentation of the skin, Absent...	ORPHA:79433
Barrett Esophagus	Barrett esophagus, Gastroesophageal reflux, Esophageal carcinoma, Esophageal ulceration	OMIM:614266
Chromosome 16P12.2-P11.2 Deletion Syndrome, 7.1- To 8.7-Mb	Intrauterine growth retardation, Open mouth, Thin upper lip vermilion, Short stature, High palate...	OMIM:613604
Chromosome 17Q12 Duplication Syndrome	Smooth philtrum, Cleft soft palate, Esophageal atresia, Peters anomaly	OMIM:614526
Orofaciodigital Syndrome Iii	Bifid uvula, Microdontia, Hyperconvex nail, Bifid tongue, Supernumerary tooth, Tongue nodules	OMIM:258850
Odontoonychodermal Dysplasia	Sparse eyebrow, Dry hair, Short nail, Dystrophic toenail, Fine hair, Sparse body hair, Widely spa...	OMIM:257980
Elejalde Neuroectodermal Melanolysosomal Syndrome	Silver-gray hair, Melanin pigment aggregation in hair shafts, Hypopigmentation of the skin, Accum...	OMIM:256710
Hyperpigmentation With Or Without Hypopigmentation, Familial Progressive	Hypopigmented skin patches, Multiple lentigines, Progressive hyperpigmentation, Vitiligo, Hyperme...	OMIM:145250
Erythrokeratoderma ''En Cocardes''	Abnormality of skin pigmentation	ORPHA:315
Orofaciodigital Syndrome Type 5	High, narrow palate, Bifid uvula, Absent cupid's bow, Cleft soft palate, Median cleft upper lip, ...	ORPHA:2919
Solar Urticaria	Abnormal lip morphology, Abnormal tongue morphology	ORPHA:97230
Whistling Face Syndrome, Recessive Form	Whistling appearance, Microglossia, Long philtrum, Narrow mouth, High palate	OMIM:277720
Auriculocondylar Syndrome 1	Mandibular condyle aplasia, Dental malocclusion, Dental crowding, Anterior open-bite malocclusion...	OMIM:602483
Osteoporosis-Oculocutaneous Hypopigmentation Syndrome	Albinism, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:2786
Orofaciodigital Syndrome Xv	Midline notch of upper alveolar ridge, Lobulated tongue	OMIM:617127
Auriculocondylar Syndrome 3	Bifid uvula, Glossoptosis	OMIM:615706
X-Linked Alport Syndrome-Diffuse Leiomyomatosis	Cataract, Anterior lenticonus, Gastroesophageal reflux, Keratitis, Abnormal gastrointestinal trac...	ORPHA:1018
Hypoglossia With Situs Inversus	Hypodontia, High palate, Microglossia, Narrow mouth	OMIM:612776
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome	High, narrow palate, Submucous cleft hard palate, Hypodontia, Short stature, Glossoptosis	ORPHA:3201
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia	Short stature, Glossoptosis, Cleft palate, Pierre-Robin sequence	OMIM:620269
Gastroesophageal Reflux	Barrett esophagus, Gastroesophageal reflux, Esophagitis, Esophageal neoplasm	OMIM:109350
Waardenburg Syndrome	Hypopigmented skin patches, Abnormal lip morphology, Premature graying of hair, White forelock, I...	ORPHA:3440
Epidermolysis Bullosa, Junctional 5B, With Pyloric Atresia	Axillary pterygium, Congenital pyloric atresia, Oral mucosal blisters, Enamel hypoplasia, Esophag...	OMIM:226730
Mulibrey Nanism	Pigmentary retinopathy, Microglossia, Dental malocclusion, Dental crowding, Astigmatism, Hypodont...	OMIM:253250
Orofaciodigital Syndrome Xix	Narrow palate, Carious teeth, Downturned corners of mouth, Lobulated tongue, Cleft soft palate, N...	OMIM:620107
Mandibulofacial Dysostosis With Alopecia	Alopecia, Dental crowding, Delayed eruption of primary teeth, Sparse eyelashes, Everted lower lip...	OMIM:616367
Homocarnosinosis	Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:236130
Charcot-Marie-Tooth Disease, Axonal, Type 2S	Tongue atrophy	OMIM:616155
Orofaciodigital Syndrome Iv	Hamartoma of tongue, Accessory oral frenulum, Short stature, High palate, Tongue nodules, Cleft p...	OMIM:258860
Retinitis Pigmentosa 89	Esophageal varix	OMIM:618955
Faciocardiomelic Dysplasia, Lethal	Microglossia, Narrow mouth, Neonatal death	OMIM:227270
Angelman Syndrome Due To Paternal Uniparental Disomy Of Chromosome 15	Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Dysp...	ORPHA:98795
Mutilating Palmoplantar Keratoderma With Periorificial Keratotic Plaques	Abnormal oral mucosa morphology, Abnormality of the dentition, Alopecia, Carious teeth, Abnormal ...	ORPHA:659
Neuroectodermal Melanolysosomal Disease	Hypopigmentation of hair, Hypopigmentation of the skin, Generalized hyperpigmentation, Premature ...	ORPHA:33445
Familial Mediterranean Fever	Oral leukoplakia, Intestinal obstruction	ORPHA:342
Cerebroretinal Microangiopathy With Calcifications And Cysts 2	Gastrointestinal hemorrhage, Esophageal varix, Premature graying of hair	OMIM:617341
Syndromic Recessive X-Linked Ichthyosis	Abnormal stomach morphology, Corneal opacity	ORPHA:281090
Facioscapulohumeral Muscular Dystrophy 1	Tongue atrophy	OMIM:158900
Coffin-Siris Syndrome 11	Bifid uvula, Downturned corners of mouth, Cleft soft palate, Esophageal atresia, High palate, Wid...	OMIM:618779
Mismatch Repair Cancer Syndrome 3	Lisch nodules, Neoplasm of the rectum, Multiple cafe-au-lait spots, Axillary freckling, Colon cancer	OMIM:619097
Pontocerebellar Hypoplasia, Type 1B	Tongue fasciculations, Tongue atrophy, Growth delay	OMIM:614678
Ectodermal Dysplasia/Short Stature Syndrome	Delayed eruption of teeth, Hypodontia, Enamel hypoplasia, Dysphagia, Esophageal stricture	OMIM:616029
Atypical Pantothenate Kinase-Associated Neurodegeneration	Tongue atrophy	ORPHA:216873
Neurodevelopmental Disorder With Hypotonia, Stereotypic Hand Movements, And Impaired Language	Thin upper lip vermilion, Short philtrum, Downturned corners of mouth, Lobulated tongue	OMIM:613443
Seckel Syndrome 2	Short stature, Microglossia, Growth delay, Microdontia	OMIM:606744
Lichen Planus Pemphigoides	Abnormal oral mucosa morphology, Hypopigmented streaks, Abnormality of the nail	ORPHA:254478
Albinism-Deafness Syndrome	Irregular hyperpigmentation, Hypopigmented skin patches, Partial albinism, Heterochromia iridis, ...	ORPHA:998
Terminal Osseous Dysplasia	Abnormality of skin pigmentation, Thick vermilion border, Iris coloboma, Cleft palate, Accessory ...	OMIM:300244
Tetraamelia Syndrome 2	Absent nipple, Ankyloglossia, Bilateral cleft lip, Glossoptosis, Cleft palate	OMIM:618021
Autosomal Dominant Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Abnormal dental morphology, Premature loss of primary teeth, Hypodo...	ORPHA:1810
Cholesteryl Ester Storage Disease	Esophageal varix	ORPHA:75234
Auriculocondylar Syndrome	Mandibular condyle aplasia, Bifid uvula, Difficulty in tongue movements, Microglossia, Dental mal...	ORPHA:137888
9Q21.13 Microdeletion Syndrome	Postnatal growth retardation, Downturned corners of mouth, Abnormal tongue morphology	ORPHA:531151
Joubert Syndrome 18	Intrauterine growth retardation, Cleft palate, Lobulated tongue	OMIM:614815
Hermansky-Pudlak Syndrome 1	Gingival bleeding, Hematochezia, Inflammation of the large intestine, Hypopigmentation of the ski...	OMIM:203300
Hypoglossia-Hypodactylia	Aglossia, Microglossia, Narrow mouth	OMIM:103300
Leiomyoma Of Vulva And Esophagus	Esophageal obstruction	OMIM:150700
Anophthalmia/Microphthalmia-Esophageal Atresia Syndrome	Sclerocornea, Iris coloboma, Tracheoesophageal fistula, Esophageal atresia	ORPHA:77298
Hartnup Disease	Gingivitis, Glossitis, Irregular hyperpigmentation, Hypopigmented skin patches	ORPHA:2116
Lethal Faciocardiomelic Dysplasia	Intrauterine growth retardation, Microglossia, Narrow mouth	ORPHA:1972
Ectodermal Dysplasia-Blindness Syndrome	Cataract, Microcornea, Abnormality of the dentition, Keratoconjunctivitis sicca, Abnormality of s...	ORPHA:1806
Angelman Syndrome Due To A Point Mutation	Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Dysp...	ORPHA:411511
Chromosome 17Q11.2 Duplication Syndrome, 1.4-Mb	Sparse eyebrow, Ankyloglossia, Alopecia of scalp, Sparse eyelashes, Bilateral cleft palate, Thin ...	OMIM:618874
Self-Improving Dystrophic Epidermolysis Bullosa	Carious teeth, Abnormality of skin pigmentation, Oral mucosal blisters	ORPHA:79411
Acrodermatitis Enteropathica	Alopecia, Ridged fingernail, Abnormal eyebrow morphology, Ridged nail, Furrowed tongue, Abnormali...	ORPHA:37
Clark-Baraitser syndrome	Exaggerated median tongue furrow, Thick lower lip vermilion, Prominent median palatal raphe, Maxi...	OMIM:300602
Bronchogenic Cyst	Abnormal stomach morphology, Abnormal esophagus morphology, Dysphagia	ORPHA:2357
Microcephaly And Chorioretinopathy, Autosomal Recessive, 1	Cataract, Abnormality of retinal pigmentation, Abnormality of skin pigmentation	OMIM:251270
Angelman Syndrome Due To Imprinting Defect In 15Q11-Q13	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin, Wide mouth	ORPHA:411515
Craniolenticulosutural Dysplasia	Posterior Y-sutural cataract, Carious teeth, Delayed eruption of teeth, Long philtrum, Wide mouth...	ORPHA:50814
Hyperbilirubinemia, Rotor Type	Abnormality of skin pigmentation	OMIM:237450
Oculocutaneous Albinism Type 4	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Ocular albinism, Abnormality of ...	ORPHA:79435
Pulmonary Fibrosis And/Or Bone Marrow Failure Syndrome, Telomere-Related, 8	Gastric varix, Esophageal varix, Premature graying of hair	OMIM:620367
Hypohidrotic Ectodermal Dysplasia	Abnormality of the dentition, Generalized hypopigmentation of hair, Irregular hyperpigmentation, ...	ORPHA:238468
Aspergillosis	Abnormal esophagus morphology, Keratitis	ORPHA:1163
Kindler Epidermolysis Bullosa	Inflammation of the large intestine, Carious teeth, Periodontitis, Abnormal dental enamel morphol...	ORPHA:2908
Psoriasis 14, Pustular	Furrowed tongue, Nail dystrophy, Geographic tongue	OMIM:614204
Mandibuloacral Dysplasia	Alopecia, Dental crowding, Abnormal tongue morphology, Hypoplastic fingernail, Abnormality of ski...	ORPHA:2457
Orofaciodigital Syndrome V	Bifid uvula, Hamartoma of tongue, Ankyloglossia, Thin upper lip vermilion, Median cleft upper lip...	OMIM:174300
Arthrogryposis, Distal, Type 5D	Furrowed tongue, Open mouth, Narrow mouth, Short stature, Tongue atrophy, Cleft palate	OMIM:615065
Carey-Fineman-Ziter Syndrome	Growth delay, Long philtrum, Aplasia/Hypoplasia of the tongue, Thin vermilion border, High palate...	ORPHA:1358
Obesity And Hypopigmentation	Red hair	OMIM:620195
X-Linked Recessive Ocular Albinism	Iris hypopigmentation, Ocular albinism, Abnormal pupil morphology, Astigmatism, Freckling, Giant ...	ORPHA:54
Noonan Syndrome 7	Abnormal esophagus morphology, Dysphagia, Impaired oropharyngeal swallow response, Thick vermilio...	OMIM:613706
Portal Hypertension, Noncirrhotic, 2	Esophageal varix, Hepatocellular carcinoma	OMIM:619463
Dyskeratosis Congenita, Autosomal Recessive 5	Colitis, Esophageal stenosis	OMIM:615190
Holzgreve Syndrome	Bifid tongue, Intrauterine growth retardation, Aplasia/Hypoplasia of the tongue, Cleft palate	ORPHA:2167
Aniridia-Ptosis-Intellectual Disability-Familial Obesity Syndrome	Alopecia, Hypopigmentation of hair	ORPHA:1067
Systemic Sclerosis	Barrett esophagus, Intestinal bleeding, Abnormal large intestine morphology, Gastroesophageal ref...	ORPHA:90291
Limited Cutaneous Systemic Sclerosis	Gastroesophageal reflux, Dysphagia, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:220402
Neurodevelopmental Disorder With Hypotonia, Neonatal Respiratory Insufficiency, And Thermodysregulation	High anterior hairline, Horizontal eyebrow, Thick eyebrow, Gingival overgrowth, Protruding tongue...	OMIM:618797
Autosomal Dominant Myopia-Midfacial Retrusion-Sensorineural Hearing Loss-Rhizomelic Dysplasia Syndrome	Rhizomelia, Glossoptosis, Cleft palate	ORPHA:440354
Pallister-Hall-Like Syndrome	Median cleft upper lip, Microglossia, Short stature, Cleft palate	OMIM:241800
Melkersson-Rosenthal Syndrome	Furrowed tongue, Macroglossia, Cheilitis	ORPHA:2483
Darier Disease	Hypermelanotic macule, Anal mucosal leukoplakia, Abnormality of skin pigmentation	ORPHA:218
Wolman Disease	Steatorrhea, Esophageal varix	ORPHA:75233
Mucoepithelial Dysplasia, Hereditary	Alopecia, Coarse hair, Erythematous oral mucosa, Furrowed tongue, Chronic monilial nail infection...	OMIM:158310
Visceral Myopathy, Familial, With External Ophthalmoplegia	Spontaneous esophageal perforation	OMIM:277320
Intellectual Developmental Disorder, Autosomal Dominant 58	Dental crowding, Protruding tongue, Submucous cleft hard palate, Thick vermilion border, Short st...	OMIM:618106
Alacrima, Achalasia, And Impaired Intellectual Development Syndrome	Downturned corners of mouth, Achalasia, Short philtrum, Anisocoria, Dysphagia, Esophageal stenosis	OMIM:615510
Intellectual Disability-Brachydactyly-Pierre Robin Syndrome	Abnormality of canine, Microglossia, Tented upper lip vermilion, Agenesis of central incisor, Exa...	ORPHA:364577
Cleft Lip/Palate-Intestinal Malrotation-Cardiopathy Syndrome	Intestinal malrotation, Bifid tongue, Bilateral cleft palate	ORPHA:2001
Orofaciodigital Syndrome Ii	Accessory oral frenulum, Agenesis of central incisor, Median cleft upper lip, Bifid tongue, High ...	OMIM:252100
Cowden Syndrome 5	Cataract, Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615108
Hypomandibular Faciocranial Dysostosis	Aglossia, Pursed lips	OMIM:241310
Intermediate Generalized Junctional Epidermolysis Bullosa	Enamel hypoplasia, Abnormality of skin pigmentation, Oral mucosal blisters	ORPHA:79402
Chand Syndrome	Agenesis of permanent teeth, Nail dysplasia, Abnormal oral frenulum morphology, Curly hair, Bifid...	ORPHA:1401
Moebius Syndrome	Aplasia/Hypoplasia of the tongue, Tooth agenesis, Open mouth, Microdontia, Multiple cafe-au-lait ...	ORPHA:570
Adams-Oliver Syndrome 6	Esophageal varix	OMIM:616589
Trisomy 8Q	Abnormal oral frenulum morphology, Orofacial cleft, Everted lower lip vermilion, Bifid tongue, Hi...	ORPHA:1752
Cohen Syndrome	High, narrow palate, Abnormality of the dentition, Aplasia/Hypoplasia of the tongue, Tooth agenes...	ORPHA:193
Charcot-Marie-Tooth Disease, Type 4C	Tongue fasciculations, Tongue atrophy	OMIM:601596
Basel-Vanagaite-Smirin-Yosef Syndrome	Cataract, Microcornea, Gastroesophageal reflux, Furrowed tongue, Tented upper lip vermilion, Shor...	OMIM:616449
Acrocallosal Syndrome	Everted upper lip vermilion, Postnatal growth retardation, Open mouth, Narrow mouth, Protruding t...	OMIM:200990
Amyotrophic Lateral Sclerosis 27, Juvenile	Tongue fasciculations, Tongue atrophy	OMIM:620285
Gastrointestinal Ulceration, Recurrent, With Dysfunctional Platelets	Duodenal ulcer, Gastric ulcer, Esophageal ulceration	OMIM:618372
Congenital Disorder Of Glycosylation, Type Iig	Rhizomelia, Long philtrum, Postnatal growth retardation, Intrauterine growth retardation, Narrow ...	OMIM:611209
Angelman Syndrome	Hypopigmentation of the skin, Fair hair, Widely spaced teeth, Protruding tongue, Blue irides, Mac...	OMIM:105830
Neurodevelopmental Disorder With Central And Peripheral Motor Dysfunction	Glossoptosis, Cleft palate	OMIM:618356
Carney Complex, Type 1	Palatine myxoma, Multiple lentigines, Hirsutism, Freckling, Red hair, Profuse pigmented skin lesions	OMIM:160980
Distal Limb Deficiencies-Micrognathia Syndrome	Microglossia, Narrow mouth, Microdontia, Short stature, High palate, Cleft palate	ORPHA:1307
Hyper-Ige Syndrome 1, Autosomal Dominant, With Recurrent Infections	Colonic diverticula, Gastroesophageal reflux, Gastric ulcer, Persistence of primary teeth, Esopha...	OMIM:147060
Prader-Willi Syndrome Due To Imprinting Mutation	Iris hypopigmentation, Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:177910
Congenital Disorder Of Glycosylation, Type Iia	Long philtrum, Diastema, Macrodontia, Long eyelashes, Thick eyebrow, Open mouth, Protruding tongu...	OMIM:212066
Non-Syndromic Posterior Hypospadias	Anal atresia, Esophageal atresia, Cleft palate	ORPHA:95706
Benign Schwannoma	Abnormal esophagus morphology, Intestinal polyposis, Abnormal parotid gland morphology	ORPHA:252164
Growth Retardation, Developmental Delay, And Facial Dysmorphism	Bifid uvula, Intrauterine growth retardation, Protruding tongue, Alveolar ridge overgrowth, Thin ...	OMIM:612938
Agnathia-Otocephaly Complex	Aglossia, Microglossia, Narrow mouth, Cleft palate	OMIM:202650
Cowden Syndrome 6	Cataract, Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:615109
Methylmalonic Acidemia With Homocystinuria Type Cblf	Growth delay, Intrauterine growth retardation, Glossitis, Stomatitis, Cleft palate	ORPHA:79284
Imperforate Oropharynx-Costovertebral Anomalies Syndrome	Aplasia/Hypoplasia of the tongue, Abnormality of the philtrum, Abnormal lip morphology	ORPHA:2759
Developmental And Speech Delay Due To Sox5 Deficiency	Dental crowding, Narrow palate, Exaggerated median tongue furrow	ORPHA:313892
Orofaciodigital Syndrome I	Alopecia, Dry hair, Carious teeth, Cleft upper lip, Hamartoma of tongue, Ankyloglossia, Agenesis ...	OMIM:311200
Ectodermal Dysplasia-Skin Fragility Syndrome	Alopecia universalis, Cheilitis, Carious teeth, Anoperineal fistula, Abnormality of the dentition...	ORPHA:158668
Juvenile Sialidosis Type 2	Cataract, Gingival overgrowth, Protruding tongue, Corneal opacity, Dysphagia	ORPHA:93399
Oculocutaneous Albinism Type 2	Iris hypopigmentation, Hypopigmentation of the skin, White hair, Abnormality of retinal pigmentat...	ORPHA:79432
Methimazole Embryofetopathy	Tracheoesophageal fistula, Esophageal atresia	ORPHA:1923
Orofaciodigital Syndrome Type 3	Bifid uvula, Abnormality of the dentition, Hamartoma of tongue, Irregular dentition, Lobulated to...	ORPHA:2752
Homocystinuria Due To Cystathionine Beta-Synthase Deficiency	Cataract, Gastrointestinal hemorrhage, Ectopia lentis, Dental crowding, Abnormality of retinal pi...	ORPHA:394
Robin Sequence With Distinctive Facial Appearance And Brachydactyly	Microglossia, Exaggerated median tongue furrow, Long philtrum, Tented upper lip vermilion, Submuc...	OMIM:608670
Muenke Syndrome	High, narrow palate, Hypopigmentation of hair, Hypermelanotic macule, Hypopigmented skin patches	ORPHA:53271
3Q29 Microdeletion Syndrome	Cataract, Abnormality of the dentition, Gastroesophageal reflux, Dental crowding, Short philtrum,...	ORPHA:65286
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects	Submucous cleft hard palate, Tracheoesophageal fistula, Esophageal atresia, Cafe-au-lait spot, Du...	OMIM:619227
Angelman Syndrome Due To Maternal 15Q11Q13 Deletion	Iris hypopigmentation, Hypopigmentation of the skin, Widely spaced teeth, Protruding tongue, Dysp...	ORPHA:98794
Budd-Chiari Syndrome	Gastrointestinal infarctions, Gastrointestinal hemorrhage, Esophageal varix, Intestinal obstruction	ORPHA:131
Rabson-Mendenhall Syndrome	Abnormality of the dentition, Dental crowding, Hypertrichosis, Premature graying of hair, Furrowe...	ORPHA:769
Autosomal Dominant Generalized Epidermolysis Bullosa Simplex, Severe Form	Hypopigmentation of the skin, Smooth tongue, Oral mucosal blisters, Generalized reticulate brown ...	ORPHA:79396
Marshall-Smith Syndrome	Generalized hirsutism, Gingival overgrowth, Open mouth, Protruding tongue	ORPHA:561
Gardner Syndrome	Abnormality of the dentition, Gastrointestinal carcinoma, Adenomatous colonic polyposis, Ampulla ...	ORPHA:79665
Hepatoportal Sclerosis	Gastrointestinal hemorrhage, Gastric varix, Esophageal varix, Hepatocellular carcinoma	ORPHA:64743
Ramos-Arroyo Syndrome	Carious teeth, Xerostomia, Smooth tongue, Keratitis, Long philtrum, Narrow mouth, Aganglionic meg...	ORPHA:1051
Congenital Disorder Of Glycosylation, Type Iq	Cataract, Dysphagia, Abnormality of skin pigmentation	OMIM:612379
Hypoglossia-Hypodactyly Syndrome	Aplasia/Hypoplasia of the tongue, Abnormal fingernail morphology, Narrow mouth, Jejunal atresia, ...	ORPHA:989
Williams Syndrome	Carious teeth, Megalocornea, Open bite, Posterior embryotoxon, Everted lower lip vermilion, Flat ...	ORPHA:904
X-Linked Agammaglobulinemia	Conjunctivitis, Glossoptosis, Hypopigmented skin patches	ORPHA:47
Oculocutaneous Albinism Type 1B	Iris hypopigmentation, Hypopigmentation of the skin, Melanocytic nevus, Abnormality of retinal pi...	ORPHA:79434
Tarp Syndrome	Meckel diverticulum, Intrauterine growth retardation, Neonatal death, High palate, Glossoptosis, ...	OMIM:311900
Glycogen Storage Disease Iv	Esophageal varix	OMIM:232500
Spondyloepimetaphyseal Dysplasia Congenita, Strudwick Type	Carious teeth, Glossoptosis	ORPHA:93346
Rhombencephalosynapsis	Narrow mouth, Aganglionic megacolon, Tracheoesophageal fistula, Esophageal atresia, Anal atresia	ORPHA:59315
Angelman Syndrome	Iris hypopigmentation, Keratoconus, Gastroesophageal reflux, Hypopigmentation of the skin, Fair h...	ORPHA:72
Apert Syndrome	Bifid uvula, Delayed eruption of teeth, Corneal erosion, Ectopic anus, Esophageal atresia, Narrow...	ORPHA:87
Icf Syndrome	Short stature, Macroglossia, Protruding tongue	ORPHA:2268
Hallermann-Streiff Syndrome	High, narrow palate, Abnormality of the dentition, Alopecia, Sparse eyebrow, Natal tooth, Sparse ...	ORPHA:2108
Waardenburg Syndrome, Type 4C	Hypopigmented skin patches, Premature graying of hair, White forelock, Heterochromia iridis, Agan...	OMIM:613266
Orofaciodigital Syndrome Type 1	Abnormality of the dentition, Alopecia, Coarse hair, Odontogenic neoplasm, Lobulated tongue, Lip ...	ORPHA:2750
Ectodermal Dysplasia 1, Hypohidrotic, X-Linked	Everted upper lip vermilion, Sparse body hair, Sparse eyelashes, Absent eyelashes, Absent eyebrow...	OMIM:305100
Gastrointestinal Stromal Tumor	Gastrointestinal stroma tumor, Hyperpigmentation of the skin, Dysphagia, Intestinal obstruction	OMIM:606764
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1	Short stature, Macroglossia, Protruding tongue	OMIM:242860
Chronic Graft Versus Host Disease	Gastroesophageal reflux, Xerostomia, Abnormal esophagus physiology, Recurrent corneal erosions, A...	ORPHA:99921
Spinocerebellar Ataxia 36	Tongue fasciculations, Tongue atrophy	OMIM:614153
Adams-Oliver Syndrome	Cataract, Gastrointestinal hemorrhage, Esophageal varix	ORPHA:974
Fanconi Anemia, Complementation Group Q	Esophageal atresia, Anteriorly placed anus	OMIM:615272
Congenital Disorder Of Glycosylation, Type Iil	Inflammation of the large intestine, Enamel hypoplasia, Esophageal varix	OMIM:614576
Developmental And Epileptic Encephalopathy 80	Growth delay, Long philtrum, Tented upper lip vermilion, Protruding tongue, Smooth philtrum, High...	OMIM:618580
Ataxia, Intention Tremor, And Hypotonia Syndrome, Childhood-Onset	Ankyloglossia	OMIM:619352
Microcephaly 26, Primary, Autosomal Dominant	Short stature, Gingival overgrowth, Protruding tongue, Long philtrum	OMIM:619179
Orofaciodigital Syndrome Type 2	Natal tooth, Velopharyngeal insufficiency, Peg-shaped maxillary lateral incisors, Hamartoma of to...	ORPHA:2751
Agel Amyloidosis	Cataract, Xerostomia, Keratoconjunctivitis sicca, Tongue atrophy, Corneal ulceration, Lattice cor...	ORPHA:85448
Otospondylomegaepiphyseal Dysplasia	Bifid uvula, Glossoptosis, Disproportionate short stature, Cleft palate	ORPHA:1427
Gastritis, Familial Giant Hypertrophic	Giant hypertrophic gastritis	OMIM:137280
Ritscher-Schinzel Syndrome 2	Intestinal malrotation, Postnatal growth retardation, Protruding tongue, High palate, Short philtrum	OMIM:300963
Intellectual Developmental Disorder, X-Linked, Syndromic, Claes-Jensen Type	Diastema, Furrowed tongue, Thick eyebrow, Thin upper lip vermilion, Smooth philtrum, Patchy alope...	OMIM:300534
Cowden Syndrome 1	Cataract, Colonic diverticula, Furrowed tongue, Narrow mouth, High palate, Hamartomatous polyposis	OMIM:158350
Orofaciodigital Syndrome Type 6	Midline notch of upper alveolar ridge, Hamartoma of tongue, Abnormal oral frenulum morphology, Sh...	ORPHA:2754
Cleidocranial Dysplasia	High, narrow palate, Abnormality of the dentition, Carious teeth, Dystrophic toenail, Delayed eru...	ORPHA:1452
Spinocerebellar Ataxia Type 36	Tongue fasciculations, Tongue atrophy	ORPHA:276198
Short-Rib Thoracic Dysplasia 13 With Or Without Polydactyly	Rhizomelia, Cleft lip, Natal tooth, Hamartoma of tongue, Incomplete cleft of the upper lip, Still...	OMIM:616300
Neurodevelopmental Disorder With Variable Motor And Language Impairment	Thin eyebrow, Open mouth, Protruding tongue, Smooth philtrum, Everted lower lip vermilion, High p...	OMIM:617804
Down Syndrome	Narrow palate, Macroglossia, Gastroesophageal reflux, Keratoconus, Cataract, Downturned corners o...	ORPHA:870
Methylmalonic Aciduria And Homocystinuria, Cblf Type	Thin upper lip vermilion, Glossitis, Tracheoesophageal fistula, Short stature, High palate, Stoma...	OMIM:277380
Obesity Due To Prohormone Convertase I Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71528
Obesity Due To Pro-Opiomelanocortin Deficiency	Red hair, Hypopigmentation of the skin	ORPHA:71526
Localized Dystrophic Epidermolysis Bullosa, Acral Form	Esophageal stricture	ORPHA:158673
Immunodeficiency 12	Recurrent aphthous stomatitis, Cheilitis, Esophageal stricture	OMIM:615468
Immunodeficiency 57 With Autoinflammation	Perianal abscess, Inflammation of the large intestine, Gastritis	OMIM:618108
Griscelli Syndrome Type 2	Iris hypopigmentation, Hypopigmentation of hair, Partial albinism, Premature graying of hair	ORPHA:79477
Autosomal Recessive Robinow Syndrome	Abnormality of the dentition, Alopecia, Downturned corners of mouth, Long philtrum, Open bite, Fi...	ORPHA:1507
Ring Chromosome 22 Syndrome	Growth delay, Protruding tongue, Thick vermilion border	ORPHA:1446
Congenital Sialidosis Type 2	Cataract, Gingival overgrowth, Protruding tongue, Developmental cataract, Corneal opacity	ORPHA:93400
Charcot-Marie-Tooth Disease Type 4B2	Cataract, Difficulty in tongue movements, Buphthalmos, Tongue atrophy, Developmental glaucoma	ORPHA:99956
Treacher-Collins Syndrome	Cataract, Abnormality of the dentition, Rectovaginal fistula, Cleft upper lip, Tooth agenesis, Op...	ORPHA:861
Robinow Syndrome, Autosomal Dominant 3	Cleft lip, Dental malocclusion, Downturned corners of mouth, Long philtrum, Anteriorly placed anu...	OMIM:616894
Agnathia-Holoprosencephaly-Situs Inversus Syndrome	Microglossia, Narrow mouth, Aplasia/Hypoplasia of the eyebrow	ORPHA:990
Trisomy 18	Cataract, Microcornea, Narrow mouth, Abnormality of retinal pigmentation, Anal atresia, Esophagea...	ORPHA:3380
Hepatic Fibrosis-Renal Cysts-Intellectual Disability Syndrome	Short stature, Glossoptosis	ORPHA:2031
Kleefstra Syndrome 1	Natal tooth, Persistence of primary teeth, Protruding tongue, Everted lower lip vermilion, Macrog...	OMIM:610253
Pitt-Hopkins-Like Syndrome 2	Wide mouth, Protruding tongue	OMIM:614325
Ermine Phenotype	Iris hypopigmentation, Irregular hyperpigmentation, Hypopigmented skin patches, Ocular albinism, ...	ORPHA:999
Progeroid Short Stature With Pigmented Nevi	Cataract, Allergic conjunctivitis, Irregular dentition, Hypodontia, Esophageal ulceration	OMIM:176690
Acro-Renal-Mandibular Syndrome	Aplasia/Hypoplasia of the tongue, Intrauterine growth retardation, Orofacial cleft, Tracheoesopha...	ORPHA:958
Hypomandibular Faciocranial Dysostosis	Bifid uvula, Aplasia/Hypoplasia of the tongue, Narrow mouth, Cleft palate	ORPHA:1790
Raine Syndrome	Natal tooth, Gingival overgrowth, Narrow mouth, Protruding tongue, Microdontia, Neonatal death, E...	OMIM:259775
Orofaciodigital Syndrome Vi	Lobulated tongue, Cleft upper lip, Hamartoma of tongue, Incomplete cleft of the upper lip, Short ...	OMIM:277170
Intellectual Developmental Disorder, Autosomal Dominant 29	Narrow palate, Dental crowding, Long philtrum, Ankyloglossia, Open mouth, Narrow mouth, Hirsutism...	OMIM:616078
Oculocutaneous Albinism Type 1A	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Freckling, Albinism, Hypopi...	ORPHA:79431
Coach Syndrome 1	Wide mouth, Esophageal varix	OMIM:216360
Feingold Syndrome	Orofacial cleft, Esophageal atresia, Duodenal atresia	ORPHA:1305
Vacterl With Hydrocephalus	Microcornea, Anal atresia, Tracheoesophageal fistula, Esophageal atresia	ORPHA:3412
Koolen-De Vries Syndrome	High, narrow palate, Narrow palate, Abnormality of the dentition, Abnormal dental enamel morpholo...	ORPHA:96169
Hydrocephalus-Costovertebral Dysplasia-Sprengel Anomaly Syndrome	Abnormal dental enamel morphology, High palate, Abnormality of skin pigmentation	ORPHA:2180
Frontorhiny	Bifid tongue, Cataract, Iris coloboma, Cleft palate	ORPHA:391474
Albinism, Oculocutaneous, Type Ia	White hair, Ocular albinism, Absent skin pigmentation, Blue irides, Albinism, Hypopigmentation of...	OMIM:203100
Cirrhosis, Familial	Esophageal varix	OMIM:215600
Autosomal Recessive Faciodigitogenital Syndrome	Dry hair, Coarse hair, Long philtrum, Open bite, Deep philtrum, Everted lower lip vermilion, High...	ORPHA:1974
Ataxia-Telangiectasia	Hypopigmentation of hair, Multiple cafe-au-lait spots, Premature graying of hair	ORPHA:100
Contractures-Developmental Delay-Pierre Robin Syndrome	High, narrow palate, Glossoptosis, Iris coloboma, Cleft palate	ORPHA:436003
Autosomal Dominant Robinow Syndrome	High, narrow palate, Onychogryposis of fingernail, Alopecia, Ridged fingernail, Downturned corner...	ORPHA:3107
Short-Rib Thoracic Dysplasia 3 With Or Without Polydactyly	Cleft upper lip, Hamartoma of tongue, Intestinal malrotation, Bifid tongue, Anal atresia, Short s...	OMIM:613091
Hereditary Folate Malabsorption	Glossitis, Cheilitis	ORPHA:90045
Glycogen Storage Disease Due To Glycogen Branching Enzyme Deficiency	Esophageal varix	ORPHA:367
Vacterl Association, X-Linked, With Or Without Hydrocephalus	Anal atresia, Tracheoesophageal fistula, Esophageal atresia	OMIM:314390
Carey-Fineman-Ziter Syndrome 1	Cataract, Microglossia, Gastroesophageal reflux, High palate, Glossoptosis, Dysphagia, Cleft pala...	OMIM:254940
Adams-Oliver Syndrome 5	Esophageal varix	OMIM:616028
Basel-Vanagaite-Smirin-Yosef Syndrome	High, narrow palate, Microcornea, Furrowed tongue, Tented upper lip vermilion, Exaggerated cupid'...	ORPHA:464738
Gracile Bone Dysplasia	Short stature, Ankyloglossia	OMIM:602361
Caroli Disease	Conjunctival icterus, Cholangiocarcinoma, Esophageal varix	ORPHA:53035
Cowden Syndrome	Cataract, Hypopigmented skin patches, Furrowed tongue, Melanocytic nevus, Conjunctival hamartoma,...	ORPHA:201
Septo-Optic Dysplasia Spectrum	Tracheoesophageal fistula, Esophageal atresia, Cleft palate	ORPHA:3157
Pelvis-Shoulder Dysplasia	Microcornea, Microglossia, Thick anterior alveolar ridges, Iris coloboma, Cleft palate	ORPHA:2839
Alpha-Thalassemia/Impaired Intellectual Development Syndrome, X-Linked	Growth delay, Diastema, Thick lower lip vermilion, Postnatal growth retardation, Protruding tongu...	OMIM:301040
Microgastria-Limb Reduction Defect Syndrome	Microgastria, Gastroesophageal reflux, Intestinal malrotation, Esophagitis, Perineal fistula, Hia...	ORPHA:2538
Cerebrocostomandibular Syndrome	Anal stenosis, Carious teeth, Cleft lip, Long philtrum, Anteriorly placed anus, Postnatal growth ...	OMIM:117650
Amyotrophic Lateral Sclerosis	Tongue atrophy, Xerostomia	ORPHA:803
X-Linked Intellectual Disability-Cardiomegaly-Congestive Heart Failure Syndrome	Smooth philtrum, Protruding tongue, Everted lower lip vermilion	ORPHA:324410
Focal Dermal Hypoplasia	Abnormality of the dentition, Gastroesophageal reflux, Ectopia lentis, Hypoplasia of the iris, Op...	ORPHA:2092
Acrodysostosis 2 With Or Without Hormone Resistance	Fair hair, Red hair, Blue irides	OMIM:614613
Robinow Syndrome	Tooth malposition, High anterior hairline, Dental malocclusion, Small nail, Long philtrum, Dental...	ORPHA:97360
Phosphoribosylaminoimidazole Carboxylase Deficiency	Tracheoesophageal fistula, Esophageal atresia	OMIM:619859
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome	Bifid uvula, Downturned corners of mouth, Furrowed tongue, Intrauterine growth retardation, Open ...	ORPHA:453499
Cholesteryl Ester Storage Disease	Steatorrhea, Esophageal varix	OMIM:278000
Cholestasis, Progressive Familial Intrahepatic, 8	Esophageal varix	OMIM:619662
Stevens-Johnson Syndrome	Gastrointestinal hemorrhage, Esophageal stricture, Conjunctivitis, Dysphagia, Corneal erosion	ORPHA:36426
Kinsship Syndrome	Downturned corners of mouth, Hypertrichosis, Thick lower lip vermilion, Ankyloglossia, Widely spa...	OMIM:619297
Mandibulofacial Dysostosis, Guion-Almeida Type	Deep philtrum, Esophageal atresia, Cleft palate	OMIM:610536
Cholestasis-Lymphedema Syndrome	Gastrointestinal hemorrhage, Abnormality of skin pigmentation, Acholic stools	ORPHA:1414
Autosomal Recessive Generalized Dystrophic Epidermolysis Bullosa, Severe Form	Gastroesophageal reflux, Carious teeth, Anal fissure, Ankyloglossia, Erosion of oral mucosa, Narr...	ORPHA:79408
Robinow Syndrome, Autosomal Recessive 1	Small nail, Downturned corners of mouth, Long eyelashes, Absent uvula, Thin upper lip vermilion, ...	OMIM:268310
Mosaic Variegated Aneuploidy Syndrome	Cataract, Stomach cancer, Intestinal polyposis, Multiple cafe-au-lait spots, Abnormality of skin ...	ORPHA:1052
Chediak-Higashi Syndrome	Silver-gray hair, Iris hypopigmentation, Hypopigmentation of the skin, Periodontitis, Ocular albi...	OMIM:214500
Kleefstra Syndrome Due To 9Q34 Microdeletion	Highly arched eyebrow, Downturned corners of mouth, Protruding tongue, Everted lower lip vermilio...	ORPHA:96147
Myopathy, Myofibrillar, 7	Tongue atrophy	OMIM:617114
Fryns Syndrome	Meckel diverticulum, Long philtrum, Cleft upper lip, Intestinal malrotation, Tented upper lip ver...	OMIM:229850
Fanconi Anemia, Complementation Group B	Tracheoesophageal fistula, Esophageal atresia, Duodenal atresia	OMIM:300514
Robinow Syndrome, Autosomal Dominant 1	Narrow palate, Rhizomelia, Dental crowding, Downturned corners of mouth, Delayed eruption of teet...	OMIM:180700
Primary Biliary Cholangitis	Hyperpigmentation of the skin, Gastrointestinal inflammation, Steatorrhea, Celiac disease, Esopha...	ORPHA:186
Brittle Cornea Syndrome 1	Red hair, Dentinogenesis imperfecta	OMIM:229200
Gm1-Gangliosidosis, Type Ii	Gingival overgrowth, Narrow mouth, Protruding tongue	OMIM:230600
Cerebrocostomandibular Syndrome	Intrauterine growth retardation, Short hard palate, Short stature, Glossoptosis, Cleft palate	ORPHA:1393
Marshall-Smith Syndrome	Highly arched eyebrow, Pyloric stenosis, Eclabion, Anteriorly placed anus, Hypertrichosis, Melano...	OMIM:602535
Developmental And Epileptic Encephalopathy 31B	Gingival overgrowth, Protruding tongue	OMIM:620352
Congenital Disorder Of Glycosylation, Type Iie	Intrauterine growth retardation, Narrow mouth, Protruding tongue, Smooth philtrum, Thick vermilio...	OMIM:608779
Short-Rib Thoracic Dysplasia 12	Natal tooth, Hamartoma of tongue, Intestinal malrotation, Intrauterine growth retardation, Median...	OMIM:269860
Hardikar Syndrome	Pigmentary retinopathy, Unilateral cleft lip, Intestinal malrotation, Cleft soft palate, Lacrimal...	OMIM:301068
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:453504
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion	High, narrow palate, Bifid uvula, Exaggerated median tongue furrow, Downturned corners of mouth, ...	ORPHA:352665
Smith-Lemli-Opitz Syndrome	Cataract, Gastroesophageal reflux, Microglossia, Long philtrum, Tooth agenesis, Abnormal dental e...	ORPHA:818
Peroxisome Biogenesis Disorder 1A (Zellweger)	High, narrow palate, Cataract, Pigmentary retinopathy, Opacification of the corneal stroma, Protr...	OMIM:214100
Spondyloepiphyseal Dysplasia Congenita	Disproportionate short-trunk short stature, Glossoptosis, Growth delay, Cleft palate	ORPHA:94068
Leukocyte Adhesion Deficiency Type Ii	Intrauterine growth retardation, Gingival overgrowth, Protruding tongue, Deep philtrum, Long uppe...	ORPHA:99843
Otopalatodigital Syndrome Type 2	Cataract, Narrow mouth, Anodontia, Oligodontia, Developmental glaucoma, Glossoptosis, Cleft palat...	ORPHA:90652
Brown-Vialetto-Van Laere Syndrome 1	Tongue fasciculations, Tongue atrophy	OMIM:211530
Tarp Syndrome	Thick eyebrow, Alveolar ridge overgrowth, Abnormal hair pattern, Abnormal duodenum morphology, Gl...	ORPHA:2886
Incontinentia Pigmenti	Cataract, Irregular hyperpigmentation, Keratitis, Delayed eruption of teeth, Hypopigmented skin p...	ORPHA:464
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3	Ankyloglossia, Cleft soft palate, Open mouth, Curly hair, High, narrow palate, Downturned corners...	OMIM:619950
Caroli Syndrome	Conjunctival icterus, Hematemesis, Cholangiocarcinoma, Melena, Esophageal varix	ORPHA:480520
Hypopigmentation, Organomegaly, And Delayed Myelination And Development	Hypopigmentation of hair, Hypopigmentation of the skin, Cafe-au-lait spot	OMIM:618541
Catel-Manzke Syndrome	Bifid uvula, Cleft upper lip, Postnatal growth retardation, Intrauterine growth retardation, Narr...	OMIM:616145
Distal 22Q11.2 Microdeletion Syndrome	High, narrow palate, Ankyloglossia, Intrauterine growth retardation, Narrow mouth, Thin upper lip...	ORPHA:261330
Fanconi Anemia, Complementation Group L	Tracheoesophageal fistula, Esophageal atresia, Anal atresia, Cafe-au-lait spot, Cleft palate	OMIM:614083
Cognitive Impairment-Coarse Facies-Heart Defects-Obesity-Pulmonary Involvement-Short Stature-Skeletal Dysplasia Syndrome	Highly arched eyebrow, Downturned corners of mouth, Long philtrum, Abnormal fingernail morphology...	ORPHA:444077
X-Linked Dystonia-Parkinsonism	Protruding tongue	ORPHA:53351
Generalized Pustular Psoriasis	Cheilitis, Abnormality of the nail, Geographic tongue	ORPHA:247353
Neurodevelopmental Disorder With Or Without Anomalies Of The Brain, Eye, Or Heart	Broad alveolar ridges, Gastroesophageal reflux, Peters anomaly, Cleft lip, Furrowed tongue, Smoot...	OMIM:616975
Cartilage-Hair Hypoplasia	Aganglionic megacolon, Anal stenosis, Esophageal atresia, Fair hair	OMIM:250250
Stuve-Wiedemann Syndrome 1	Carious teeth, Smooth tongue, Pursed lips, Blotching pigmentation of the skin, Thin vermilion bor...	OMIM:601559
Intellectual Developmental Disorder, Autosomal Dominant 73	Highly arched eyebrow, Widely spaced teeth, Thick lower lip vermilion, Ankyloglossia, Melanocytic...	OMIM:620450
Short-Rib Thoracic Dysplasia 20 With Polydactyly	Cleft lip, Natal tooth, Hamartoma of tongue, Anal atresia, Esophageal diverticulum, Cleft palate	OMIM:617925
Prader-Willi Syndrome Due To Translocation	Iris hypopigmentation, Bifid uvula, Hypopigmentation of the skin, Carious teeth, Downturned corne...	ORPHA:177907
Arteriosclerosis, Severe Juvenile	Gastric ulcer	OMIM:208060
Classic Phenylketonuria	Hypopigmentation of hair, Hypopigmentation of the skin	ORPHA:79254
Aplasia Of Lacrimal And Salivary Glands	Carious teeth, Xerostomia	OMIM:180920
Au-Kline Syndrome	Bifid uvula, Dental malocclusion, Downturned corners of mouth, Sparse lateral eyebrow, Supernumer...	OMIM:616580
Distal Deletion 15Q	Abnormality of the dentition, Growth delay, Postnatal growth retardation, Intrauterine growth ret...	ORPHA:1596
Hurler Syndrome	Everted lower lip vermilion, Abnormality of skin pigmentation, Thick vermilion border, Corneal op...	ORPHA:93473
Microphthalmia, Syndromic 3	Sclerocornea, Cataract, Esophageal atresia	OMIM:206900
Glycogen Storage Disease Due To Liver Phosphorylase Kinase Deficiency	Hepatocellular adenoma, Esophageal varix	ORPHA:264580
Polycystic Kidney Disease 4 With Or Without Polycystic Liver Disease	Hematemesis, Esophageal varix	OMIM:263200
Imerslund-Gräsbeck Syndrome	Angular cheilitis, Glossitis	ORPHA:35858
Immunodeficiency 23	High palate, Esophageal stricture	OMIM:615816
Large Congenital Melanocytic Nevus	Congenital giant melanocytic nevus, Hypopigmented skin patches, Abnormality of skin pigmentation	ORPHA:626
1Q21.1 Microdeletion Syndrome	Long philtrum, Ankyloglossia, Intrauterine growth retardation, Short stature, High palate	ORPHA:250989
Apert Syndrome	Bifid uvula, Dental malocclusion, Delayed eruption of teeth, Ectopic anus, Esophageal atresia, Na...	OMIM:101200
Multiple Endocrine Neoplasia Type 2	Abnormal tongue morphology, Ganglioneuromatosis, Prominent corneal nerve fibers, Aganglionic mega...	ORPHA:653
Mirage Syndrome	Gastroesophageal reflux, Achalasia, Esophageal stricture	OMIM:617053
Developmental And Epileptic Encephalopathy 100	Hypoplastic fingernail, Gingival overgrowth, Tented upper lip vermilion, Protruding tongue, Micro...	OMIM:619777
Feingold Syndrome 1	Jejunal atresia, Tracheoesophageal fistula, Esophageal atresia, Gastrointestinal atresia, Everted...	OMIM:164280
Charcot-Marie-Tooth Disease Type 4C	Tongue fasciculations, Difficulty in tongue movements, Anisocoria, Tongue atrophy	ORPHA:99949
Coffin-Siris Syndrome 1	Conical tooth, Delayed eruption of teeth, Long philtrum, Thick lower lip vermilion, Intestinal ma...	OMIM:135900
Fanconi Anemia	Cataract, Irregular hyperpigmentation, Meckel diverticulum, Hypopigmented skin patches, Aplasia/H...	ORPHA:84
Vici Syndrome	Hypopigmentation of the skin, Everted upper lip vermilion, Long philtrum, Ocular albinism, Cleft ...	OMIM:242840
Giant Cell Arteritis	Glossitis, Alopecia	ORPHA:397
Meckel Syndrome	Cataract, Microcornea, Aplasia/Hypoplasia of the tongue, Furrowed tongue, Aplasia/Hypoplasia of t...	ORPHA:564
Pallister-Hall Syndrome	Microglossia, Natal tooth, Cleft upper lip, Anteriorly placed anus, Intrauterine growth retardati...	OMIM:146510
Brittle Cornea Syndrome	Abnormality of the dentition, Cleft palate, Abnormality of hair pigmentation	ORPHA:90354
Distal Deletion 12Q	High, narrow palate, Microglossia, Long philtrum, Median cleft upper lip, Smooth philtrum, Esopha...	ORPHA:96149
Stickler Syndrome	Bifid uvula, Cataract, Gastroesophageal reflux, Ectopia lentis, Long philtrum, Cleft upper lip, O...	ORPHA:828
Achondrogenesis, Type Ia	Disproportionate short-trunk short stature, Protruding tongue, Stillbirth	OMIM:200600
Opitz Gbbb Syndrome	Cleft lip, Natal tooth, Long philtrum, Ankyloglossia, Hypodontia, Ectopic anus, Anal atresia, Tra...	ORPHA:2745
Oculocerebral Hypopigmentation Syndrome, Cross Type	Iris hypopigmentation, Ocular albinism, Narrow mouth, Abnormal palate morphology, Microdontia, Hy...	ORPHA:2719
Squalene Synthase Deficiency	Abnormality of hair pigmentation	OMIM:618156
Wilson Disease	Sunflower cataract, Kayser-Fleischer ring, Dysphagia, Esophageal varix, Hepatocellular carcinoma	OMIM:277900
Charcot-Marie-Tooth Disease Type 1F	Tongue atrophy	ORPHA:101085
Gabriele-De Vries Syndrome	Abnormality of the dentition, Oral-pharyngeal dysphagia, Thick lower lip vermilion, Astigmatism, ...	ORPHA:506358
Helsmoortel-Van Der Aa Syndrome	High, narrow palate, Carious teeth, Long philtrum, Widely spaced teeth, Thick lower lip vermilion...	OMIM:615873
Gaucher Disease-Ophthalmoplegia-Cardiovascular Calcification Syndrome	Gastric ulcer, Esophageal varix, Corneal opacity	ORPHA:2072
Fanconi Anemia, Complementation Group D2	Tracheoesophageal fistula, Esophageal atresia, Abnormality of skin pigmentation, Cafe-au-lait spot	OMIM:227646
Feingold Syndrome Type 1	Jejunal atresia, Esophageal atresia, Gastrointestinal atresia, Anal atresia, Duodenal atresia	ORPHA:391641
Cousin Syndrome	Microcornea, Microglossia, Cleft palate, Alveolar ridge overgrowth	OMIM:260660
Maternal Phenylketonuria	High palate, Esophageal atresia, Long philtrum	ORPHA:2209
Necrotizing Encephalomyelopathy, Subacute, Of Leigh, Adult	Gastric hypertrophy, Gastric ulcer	OMIM:161700
Neuroocular Syndrome 1	Cataract, Microcornea, Stellate iris, Short uvula, Peters anomaly, Downturned corners of mouth, W...	OMIM:619539
Joubert Syndrome 1	Highly arched eyebrow, Macroglossia, Triangular-shaped open mouth, Protruding tongue	OMIM:213300
Microphthalmia With Linear Skin Defects Syndrome	Hypopigmented skin patches, Abnormal dental enamel morphology, Abnormal rectum morphology, Abnorm...	ORPHA:2556
Van Esch-O'Driscoll Syndrome	Bifid uvula, Downturned corners of mouth, Tracheoesophageal fistula, Esophageal atresia, Wide mouth	OMIM:301030
Telo2-Related Intellectual Disability-Neurodevelopmental Disorder	Downturned corners of mouth, Ankyloglossia, Intrauterine growth retardation, Short stature, Cleft...	ORPHA:488642
Aicardi Syndrome	Gastroesophageal reflux, Cleft upper lip, Intestinal polyposis, Abnormality of retinal pigmentati...	ORPHA:50
Sim1-Related Prader-Willi-Like Syndrome	Hypopigmentation of the skin, Xerostomia, Downturned corners of mouth, Thin upper lip vermilion, ...	ORPHA:398079
Peripheral Demyelinating Neuropathy-Central Dysmyelinating Leukodystrophy-Waardenburg Syndrome-Hirschsprung Disease	Microcolon, Hypopigmented skin patches, Premature graying of hair, Abnormal eyebrow morphology, I...	ORPHA:163746
Methylmalonic Acidemia With Homocystinuria, Type Cblc	Growth delay, Intrauterine growth retardation, Smooth philtrum, Glossitis, Stomatitis	ORPHA:79282
Fontaine Progeroid Syndrome	High, narrow palate, Absent nipple, Coarse hair, Small nail, Long philtrum, Hypertrichosis, Anter...	OMIM:612289
Incontinentia Pigmenti	Cataract, Conical tooth, Keratitis, Delayed eruption of teeth, Oligodontia, Hypodontia, Abnormali...	OMIM:308300
Neurodevelopmental Disorder With Impaired Language And Ataxia And With Or Without Seizures	Protruding tongue	OMIM:619580
Severe Generalized Junctional Epidermolysis Bullosa	Abnormal oral mucosa morphology, Abnormal cornea morphology, Erosion of oral mucosa, Enamel hypop...	ORPHA:79404
Vasculitis, Autoinflammation, Immunodeficiency, And Hematologic Defects Syndrome	Aphthous ulcer, Oral ulcer, Esophageal varix	OMIM:615688
Hermansky-Pudlak Syndrome	Iris hypopigmentation, Hypopigmentation of the skin, Ocular albinism, Partial albinism, Abnormal ...	ORPHA:79430
Ablepharon Macrostomia Syndrome	Microdontia, Abnormality of skin pigmentation, Corneal opacity, Thin vermilion border, Wide mouth...	ORPHA:920
Degcags Syndrome	Premature graying of hair, Protruding tongue, Low posterior hairline, High palate, Hypopigmentati...	OMIM:619488
Blomstrand Lethal Chondrodysplasia	Rhizomelia, Neonatal short-limb short stature, Natal tooth, Long philtrum, Protruding tongue	ORPHA:50945
Yunis-Varon Syndrome	High, narrow palate, Cataract, Gingival recession, Broad secondary alveolar ridge, Premature loss...	ORPHA:3472
Okamoto Syndrome	Anal stenosis, Gastroesophageal reflux, Exaggerated median tongue furrow, Downturned corners of m...	ORPHA:2729
Down Syndrome	Duodenal stenosis, Protruding tongue, Aganglionic megacolon, Macroglossia, Anal atresia, Brushfie...	OMIM:190685
Lenz-Majewski Hyperostotic Dwarfism	Abnormality of the dentition, Microglossia, Anteriorly placed anus, Intrauterine growth retardati...	OMIM:151050
Branchial Arch Abnormalities, Choanal Atresia, Athelia, Hearing Loss, And Hypothyroidism Syndrome	Bifid uvula, Sparse eyebrow, Absent nipple, Carious teeth, Small nail, Natal tooth, Downturned co...	OMIM:620186
Cirrhosis-Dystonia-Polycythemia-Hypermanganesemia Syndrome	Esophageal varix	ORPHA:309854
Meckel Syndrome, Type 1	Natal tooth, Cleft upper lip, Intestinal malrotation, Wide mouth, Thin upper lip vermilion, Smoot...	OMIM:249000
Prader-Willi Syndrome	Abnormality of the dentition, Hypopigmentation of the skin, Periodontitis, Xerostomia, Downturned...	ORPHA:739
Obesity, Early-Onset, With Adrenal Insufficiency And Red Hair	Red hair	OMIM:609734
Autosomal Dominant Charcot-Marie-Tooth Disease Type 2Z	Cataract, Tongue atrophy, Abnormality of retinal pigmentation	ORPHA:466768
Syndromic Diarrhea	Trichorrhexis nodosa, Villous atrophy, Gastritis, Uncombable hair, Generalized hypopigmentation, ...	ORPHA:84064
Okur-Chung Neurodevelopmental Syndrome	Highly arched eyebrow, Protruding tongue, Thin upper lip vermilion, High palate, Synophrys	OMIM:617062
Senior-Boichis Syndrome	Esophageal varix	ORPHA:84081
Rajab Interstitial Lung Disease With Brain Calcifications 1	Intestinal malrotation, High palate, Gastroesophageal reflux, Esophageal varix	OMIM:613658
Orofaciodigital Syndrome Type 14	Hamartoma of tongue, Accessory oral frenulum, Aplasia of the epiglottis, Bifid tongue, Supernumer...	ORPHA:434179
Short Rib-Polydactyly Syndrome, Verma-Naumoff Type	Cataract, Long philtrum, Cleft upper lip, Ectopic anus, Esophageal atresia, Bifid tongue, Anal at...	ORPHA:93271
Hereditary Hemorrhagic Telangiectasia	Gastrointestinal hemorrhage, Tongue telangiectasia, Intestinal polyposis, Conjunctival telangiect...	ORPHA:774
Arima Syndrome

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