Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Proximal Myopathy With Focal Depletion Of Mitochondria |
|
Elevated circulating creatine kinase concentration |
OMIM:600706 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Palatopharyngeal Incompetence |
|
Velopharyngeal insufficiency, Cleft palate |
OMIM:167500 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
White Sponge Nevus 1 |
|
Oral leukoplakia |
OMIM:193900 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Anodontia, Cleft palate |
OMIM:606713 |
Orofacial Cleft 10 |
|
Unilateral cleft lip, Unilateral cleft palate |
OMIM:613705 |
Anencephaly 2 |
|
Anencephaly, Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Bifid uvula, Cleft palate |
OMIM:303400 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Hypodontia, Cleft palate, Bifid uvula, Lower lip pit |
OMIM:119300 |
Bifid Uvula |
|
Cleft lip, Submucous cleft soft palate, Bifid uvula |
ORPHA:99771 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Myopathy With Storage Of Glycoproteins And Glycosaminoglycans |
|
Elevated circulating creatine kinase concentration |
OMIM:160570 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Dyskeratosis, Hereditary Benign Intraepithelial |
|
Oral leukoplakia |
OMIM:127600 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2521 |
Cleft Palate, Deafness, And Oligodontia |
|
No permanent dentition, Oligodontia of primary teeth, Cleft soft palate |
OMIM:216300 |
Palmoplantar Keratoderma, Nonepidermolytic, Focal Or Diffuse |
|
Oral leukoplakia |
OMIM:615735 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Bifid uvula, Cleft palate |
OMIM:258320 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Pierre-Robin sequence, Posteriorly placed tongue, Submucous cleft hard palate |
OMIM:192445 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Cleft upper lip, Atrophic gastritis, Cleft palate, Stomach cancer |
OMIM:137215 |
Isolated Childhood Apraxia Of Speech |
|
High, narrow palate, Submucous cleft hard palate |
ORPHA:209908 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Bifid uvula |
OMIM:256200 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Bifid uvula |
OMIM:300850 |
Auriculocondylar Syndrome 3 |
|
Glossoptosis, Bifid uvula |
OMIM:615706 |
Pachyonychia Congenita 1 |
|
Oral leukoplakia |
OMIM:167200 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate |
ORPHA:99772 |
Intellectual Developmental Disorder, Autosomal Recessive 44 |
|
Thin vermilion border, Long philtrum, Bifid uvula |
OMIM:615942 |
Dyskeratosis Congenita, Autosomal Recessive 3 |
|
Oral leukoplakia, Squamous cell carcinoma of the tongue |
OMIM:613988 |
Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:601492 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:619239 |
Van Der Woude Syndrome |
|
Cleft upper lip, Hypodontia, Cleft palate, Lip pit, Abnormal salivary gland morphology, Lower lip... |
ORPHA:888 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Supernumerary tooth, Thin vermilion border, Bifid uvula, Open mouth, Thick lower lip... |
OMIM:617412 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
High palate, Bifid uvula, Median cleft lip |
OMIM:155145 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Bifid uvula, Cleft palate |
ORPHA:2736 |
Branchiogenic-Deafness Syndrome |
|
Branchial cyst, Branchial fistula, Submucous cleft hard palate |
OMIM:609166 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Glossoptosis, High, narrow palate, Hypodontia, Submucous cleft hard palate |
ORPHA:3201 |
Hydrolethalus |
|
Cleft palate, Gingival cleft, Anencephaly, Bifid uvula, Arrhinencephaly, Unilateral cleft lip, Su... |
ORPHA:2189 |
Dyskeratosis Congenita, Autosomal Dominant 6 |
|
Abnormality of the dentition, Oral leukoplakia, Esophageal stenosis |
OMIM:616553 |
Orofaciodigital Syndrome Type 5 |
|
Accessory oral frenulum, Absent cupid's bow, Hypodontia, High, narrow palate, Supernumerary tooth... |
ORPHA:2919 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Bifid uvula, Downturned corners of mouth, Esophageal atresia, Cleft soft... |
OMIM:618779 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Cleft hard palate |
ORPHA:166016 |
Cleft Lip/Palate |
|
Dental malocclusion, Velopharyngeal insufficiency, Abnormal number of permanent teeth, Cleft pala... |
ORPHA:199306 |
Oculofaciocardiodental Syndrome |
|
Tooth malposition, Cleft palate, Intestinal malrotation, Abnormality of the dentition, Oligodonti... |
ORPHA:2712 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Pai Syndrome |
|
Cleft palate, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Encephalocele |
ORPHA:1993 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Submucous cleft hard palate |
OMIM:619314 |
Schilbach-Rott Syndrome |
|
Narrow mouth, Bifid uvula, Submucous cleft hard palate |
OMIM:164220 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Dental crowding, Protruding tongue, Thick vermilion border, Submucous cl... |
OMIM:618106 |
Pachyonychia Congenita 2 |
|
Angular cheilitis, Oral leukoplakia, Natal tooth |
OMIM:167210 |
Dyskeratosis Congenita, Autosomal Recessive 6 |
|
Premature loss of teeth, Oral leukoplakia, Carious teeth |
OMIM:616353 |
Arthrogryposis, Distal, Type 3 |
|
High palate, Bifid uvula, Cleft palate, Submucous cleft hard palate |
OMIM:114300 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Unilateral cleft palate, Unilateral cleft lip, Submucous cleft hard palate |
OMIM:619122 |
1Q41Q42 Microdeletion Syndrome |
|
Thick vermilion border, Cleft palate, Submucous cleft hard palate |
ORPHA:250999 |
W Syndrome |
|
Agenesis of maxillary central incisor, Broad uvula, Upper lip pit, Submucous cleft hard palate |
ORPHA:2804 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
Velopharyngeal insufficiency, Cleft palate, Thin vermilion border, Intestinal malrotation, Long p... |
OMIM:614701 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Spinal dysraphism, Bifid uvula, Submucous cleft hard palate |
OMIM:617660 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cleft palate, Bifid uvula, Delayed eruption of teeth, Spina bifida occulta, ... |
ORPHA:2780 |
Pachyonychia Congenita 3 |
|
Gingivitis, Oral leukoplakia, Chapped lip, Furrowed tongue |
OMIM:615726 |
Dyskeratosis Congenita, Autosomal Recessive 2 |
|
Oral leukoplakia |
OMIM:613987 |
Birk-Barel Syndrome |
|
High palate, Short philtrum, Submucous cleft soft palate, Bifid uvula, Tented upper lip vermilion |
OMIM:612292 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, High, narrow palate, Long philtrum, Anteriorly placed anus, Thin upper lip vermilion... |
OMIM:612863 |
Pallister W Syndrome |
|
Agenesis of maxillary central incisor, Broad uvula, Agenesis of central incisor, Submucous cleft ... |
OMIM:311450 |
Pulmonary Fibrosis And/Or Bone Marrow Failure, Telomere-Related, 6 |
|
Oral leukoplakia |
OMIM:619767 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Unilateral cleft palate, Unilateral cleft lip, Thick lower lip vermilion, Submucous c... |
OMIM:619103 |
Pachyonychia Congenita |
|
Angular cheilitis, Oral leukoplakia, Advanced eruption of teeth, Natal tooth |
ORPHA:2309 |
8Q22.1 Microdeletion Syndrome |
|
Abnormality of the dentition, Long philtrum, Submucous cleft hard palate |
ORPHA:178303 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Bifid uvula, Cleft palate, Submucous cleft hard palate |
OMIM:108300 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Hypodontia, Cleft palate, Submucous cleft soft palate, Delayed eruption of teeth, Widely spaced t... |
ORPHA:1071 |
Orofaciodigital Syndrome Iii |
|
Supernumerary tooth, Bifid tongue, Bifid uvula, Microdontia, Tongue nodules |
OMIM:258850 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Narrow mouth, Delayed eruption of teeth, Bifid uvula, Cleft hard palate, Dental crowding, Thin up... |
OMIM:300990 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Duodenal atresia, Tracheoesophageal fistula, Spina bifida occulta, Esophageal atresia, Submucous ... |
OMIM:619227 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Downturned corners of mouth, Thin upper lip vermilion, Submucous cleft hard palate |
OMIM:619680 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Narrow mouth, Cleft palate, Submucous cleft hard palate |
ORPHA:3426 |
Orofaciodigital Syndrome Type 2 |
|
High palate, Agenesis of central incisor, Taurodontia, Velopharyngeal insufficiency, Cleft palate... |
ORPHA:2751 |
Achalasia, Familial Esophageal |
|
Xerostomia |
OMIM:200400 |
Chromosome 17Q12 Duplication Syndrome |
|
Esophageal atresia, Smooth philtrum, Cleft soft palate |
OMIM:614526 |
Limb-Mammary Syndrome |
|
Hypodontia, Cleft palate, Submucous cleft soft palate, Bifid uvula, Cleft lip, Cleft hard palate |
ORPHA:69085 |
Dyskeratosis Congenita, Autosomal Recessive 1 |
|
Esophageal stricture, Oral leukoplakia, Microdontia, Carious teeth |
OMIM:224230 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Tooth malposition, Cleft palate, Failure of eruption of permanent teeth, Bifid uvula, Submucous c... |
ORPHA:2250 |
Hereditary Acrokeratotic Poikiloderma |
|
Narrow mouth, Open bite, Abnormality of the dentition, Xerostomia, Premature loss of primary teet... |
ORPHA:2907 |
Amish Lethal Microcephaly |
|
Spina bifida, Cleft soft palate |
ORPHA:99742 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Wide mouth, Dental malocclusion, Gingival overgrowth, Triangular mouth, Cleft palate, Abnormality... |
OMIM:616331 |
Walker-Warburg Syndrome |
|
Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:899 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Pyloric stenosis, Thin upper lip vermilion, Submucous cleft hard palate |
ORPHA:457279 |
Craniosynostosis 2 |
|
Supernumerary tooth, Cleft soft palate |
OMIM:604757 |
Velocardiofacial Syndrome |
|
Velopharyngeal insufficiency, Cleft palate, Umbilical hernia, Open mouth, Pierre-Robin sequence, ... |
OMIM:192430 |
Myhre Syndrome |
|
Narrow mouth, Cleft palate, Thin vermilion border, Gingival cleft, Bifid uvula, Unilateral cleft ... |
ORPHA:2588 |
Desmosterolosis |
|
Narrow mouth, Cleft palate, Intestinal malrotation, Bifid uvula, Submucous cleft hard palate |
ORPHA:35107 |
Meier-Gorlin Syndrome 5 |
|
Thick vermilion border, Long philtrum, Submucous cleft hard palate |
OMIM:613805 |
Neu-Laxova Syndrome |
|
Cleft palate, Everted lower lip vermilion, Bifid uvula, Thick vermilion border, Abnormality of th... |
ORPHA:2671 |
Keratitis-Ichthyosis-Deafness Syndrome, Autosomal Dominant |
|
Furrowed tongue, Oral leukoplakia, Microdontia |
OMIM:148210 |
Branchioskeletogenital Syndrome |
|
Premature loss of teeth, Thin vermilion border, Abnormality of the dentition, Short philtrum, Bif... |
ORPHA:1299 |
Dyskeratosis Congenita, Autosomal Dominant 2 |
|
Esophageal stricture, Abnormality of the dentition, Oral leukoplakia |
OMIM:613989 |
Orofaciodigital Syndrome Type 4 |
|
Anal atresia, Abnormality of the tongue, High, narrow palate, Cleft palate, Abnormality of the gi... |
ORPHA:2753 |
Dyskeratosis Congenita, Autosomal Dominant 1 |
|
Premature loss of teeth, Oral leukoplakia, Carious teeth |
OMIM:127550 |
Kindler Syndrome |
|
Periodontitis, Carious teeth, Gingivitis, Anal stenosis, Esophageal stenosis, Oral leukoplakia |
OMIM:173650 |
Cardiofaciocutaneous Syndrome 1 |
|
High palate, Dental malocclusion, Open bite, Abnormality of the dentition, Deep philtrum, Open mo... |
OMIM:115150 |
Hoyeraal-Hreidarsson Syndrome |
|
Oral leukoplakia |
ORPHA:3322 |
Dyskeratosis Congenita, Digenic |
|
Abnormality of the dentition, Oral leukoplakia |
OMIM:620040 |
Holoprosencephaly 13, X-Linked |
|
Duodenal atresia, Median cleft palate, Cleft palate, Solitary median maxillary central incisor, M... |
OMIM:301043 |
Dyskeratosis Congenita, Autosomal Dominant 3 |
|
Oral leukoplakia |
OMIM:613990 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
High palate, Narrow mouth, Cleft palate, Bifid uvula, Aplasia of the epiglottis, Cleft lower alve... |
OMIM:268305 |
Dubowitz Syndrome |
|
High palate, Velopharyngeal insufficiency, Agenesis of permanent teeth, Delayed eruption of teeth... |
OMIM:223370 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate |
OMIM:606851 |
Aplasia Of Lacrimal And Salivary Glands |
|
Xerostomia, Carious teeth |
OMIM:180920 |
Dubowitz Syndrome |
|
High palate, Wide mouth, Malabsorption, Abnormality of the dentition, Delayed eruption of teeth, ... |
ORPHA:235 |
Tolchin-Le Caignec Syndrome |
|
High palate, Narrow mouth, Umbilical hernia, Submucous cleft hard palate |
OMIM:618971 |
Dyskeratosis Congenita |
|
Malabsorption, Periodontitis, Taurodontia, Hypodontia, Abnormality of the dentition, Tracheoesoph... |
ORPHA:1775 |
Ear-Patella-Short Stature Syndrome |
|
Narrow mouth, High, narrow palate, Cleft palate, Bifid uvula, Thick vermilion border, Submucous c... |
ORPHA:2554 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Wide mouth, High, narrow palate, Cleft palate, Bifid uvula, Thick vermilion border, Abnormal dent... |
ORPHA:2658 |
Revesz Syndrome |
|
Oral leukoplakia |
OMIM:268130 |
Cerebroretinal Microangiopathy With Calcifications And Cysts 1 |
|
Intestinal bleeding, Oral leukoplakia |
OMIM:612199 |
Cardiofaciocutaneous Syndrome |
|
High palate, Long philtrum, Submucous cleft hard palate |
ORPHA:1340 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Wide mouth, Macroglossia, Microdontia, Thin lower lip vermilion, Deep philtrum, Thin upper lip ve... |
OMIM:619194 |
Marden-Walker Syndrome |
|
Narrow mouth, Cleft palate, Bifid uvula, Pyloric stenosis, Submucous cleft hard palate |
ORPHA:2461 |
Zttk Syndrome |
|
High palate, Narrow mouth, Intestinal atresia, Thin vermilion border, Abnormality of the dentitio... |
OMIM:617140 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
Campomelic Dysplasia |
|
High palate, Narrow mouth, Cleft palate, Long philtrum, Carious teeth, Irregular dentition, Spina... |
OMIM:114290 |
Orofaciodigital Syndrome Type 10 |
|
Accessory oral frenulum, Long philtrum, Cleft soft palate |
ORPHA:2756 |
Microphthalmia, Syndromic 2 |
|
Dental malocclusion, Persistence of primary teeth, Supernumerary tooth, Radiculomegaly, Oligodont... |
OMIM:300166 |
Alpha-Fetoprotein Deficiency |
|
Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Familial Mediterranean Fever |
|
Intestinal obstruction, Malabsorption, Oral leukoplakia |
ORPHA:342 |
Holoprosencephaly 2 |
|
Bifid uvula, Bilateral cleft lip and palate, Median cleft lip and palate, Solitary median maxilla... |
OMIM:157170 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Submucous cleft hard palate, Bifid uvula, Neoplasm of the tongue |
ORPHA:3047 |
Dyskeratosis Congenita, X-Linked |
|
Premature loss of teeth, Anal mucosal leukoplakia, Carious teeth, Esophageal stricture, Oral leuk... |
OMIM:305000 |
Cerebrocostomandibular Syndrome |
|
High palate, Glossoptosis, Abnormality of the dentition, Short hard palate, Long philtrum, Anal s... |
OMIM:117650 |
Treacher Collins Syndrome 1 |
|
Wide mouth, Narrow mouth, Cleft palate, Abnormal parotid gland morphology, Cleft soft palate |
OMIM:154500 |
Neuroocular Syndrome |
|
Short uvula, Torus palatinus, Downturned corners of mouth, Widely spaced teeth, Increased overbit... |
OMIM:619539 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Thick vermilion border, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:2636 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Gingival overgrowth, Tooth malposition, Cleft palate, Short philtrum, Submucous cleft of soft and... |
ORPHA:261537 |
Mowat-Wilson Syndrome |
|
Gingival overgrowth, Tooth malposition, Cleft palate, Enterocolitis, Everted lower lip vermilion,... |
ORPHA:2152 |
Restrictive Dermopathy |
|
Narrow mouth, Short umbilical cord, Large placenta, Small placenta, Natal tooth, Microcolon, Subm... |
ORPHA:1662 |
Restrictive Dermopathy 1 |
|
Narrow mouth, Short umbilical cord, Natal tooth, Hydropic placenta, Submucous cleft hard palate |
OMIM:275210 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
High palate, Cleft upper lip, Long philtrum, Bifid uvula, Oral cleft, Abnormality of the anus, Su... |
OMIM:607872 |
Coffin-Siris Syndrome 12 |
|
High palate, Velopharyngeal insufficiency, Celiac disease, Submucous cleft hard palate |
OMIM:619325 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Gingival overgrowth, Tooth malposition, Cleft palate, Short philtrum, Submucous cleft of soft and... |
ORPHA:261552 |
Mowat-Wilson Syndrome |
|
Tooth malposition, Cleft palate, Delayed eruption of teeth, Pyloric stenosis, Widely spaced teeth... |
OMIM:235730 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Downturned corners of mouth, Smooth philtrum, Cleft soft palate, Intestinal malrotation |
OMIM:619321 |