Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormal circulating carbohydrate concentration, Abnormality of circulating enzyme level |
ORPHA:2843 |
Orofacial Cleft 11 |
|
Cleft palate, Cleft lip |
OMIM:600625 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration, Elevated creatine kinase after exercise |
ORPHA:206599 |
Syngnathia |
|
Cleft palate |
OMIM:119550 |
Palatopharyngeal Incompetence |
|
Cleft palate, Velopharyngeal insufficiency |
OMIM:167500 |
Vacuolar Myopathy With Sarcoplasmic Reticulum Protein Aggregates |
|
Elevated circulating creatine kinase concentration |
ORPHA:88635 |
Orofacial Cleft 10 |
|
Unilateral cleft palate, Unilateral cleft lip |
OMIM:613705 |
Orofacial Cleft 5 |
|
Cleft palate, Cleft upper lip |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft palate, Cleft upper lip |
OMIM:608864 |
Orofacial Cleft 1 |
|
Cleft palate, Cleft upper lip |
OMIM:119530 |
Bifid Uvula |
|
Submucous cleft soft palate, Bifid uvula, Cleft lip |
ORPHA:99771 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft palate, Cleft upper lip |
OMIM:106250 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Van Der Woude Syndrome 1 |
|
Cleft upper lip, Lower lip pit, Hypodontia, Bifid uvula, Cleft palate |
OMIM:119300 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Cleft palate, Bifid uvula, Death in infancy |
OMIM:258320 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Velopharyngeal insufficiency, Dysphagia |
OMIM:617732 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Abnormal sternum morphology, Genu valgum, Fragmented epiphyses, Epiphyseal dysplasia, Dislocated ... |
ORPHA:166016 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Oligodontia of primary teeth, No permanent dentition, Short hallux, Sandal gap |
OMIM:216300 |
Orofaciodigital Syndrome Type 5 |
|
Non-midline cleft lip, Abnormality of the philtrum, Enamel hypoplasia, Bifid tongue, Cleft soft p... |
ORPHA:2919 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Orofacial Cleft 13 |
|
Oligodontia, Cleft soft palate |
OMIM:613857 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Cleft palate, Ankyloglossia, Bifid uvula |
OMIM:303400 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Adducted Thumbs Syndrome |
|
High palate, Velopharyngeal insufficiency, Dysphagia, Cleft palate, High, narrow palate |
OMIM:201550 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Cleft Velum |
|
Velopharyngeal insufficiency, Cleft soft palate, Oral-pharyngeal dysphagia |
ORPHA:99772 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft palate, Bifid uvula, Cleft soft palate, Unilateral cleft lip |
ORPHA:2736 |
Diffuse Gastric And Lobular Breast Cancer Syndrome |
|
Stomach cancer, Cleft upper lip, Atrophic gastritis, Cleft palate |
OMIM:137215 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:2521 |
Coffin-Siris Syndrome 11 |
|
High palate, Cleft soft palate, Small hand, Esophageal atresia, Wide mouth, Bifid uvula, Downturn... |
OMIM:618779 |
Cleft Lip/Palate |
|
Dental malocclusion, Abnormal number of permanent teeth, Unilateral cleft palate, Agenesis of lat... |
ORPHA:199306 |
Van Der Woude Syndrome 2 |
|
Dental malocclusion, Cleft upper lip, Lip pit, Hypodontia, Anodontia, Cleft palate |
OMIM:606713 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
Camptodactyly of finger, Short toe, Tapered finger, Short 4th metacarpal, Hypodontia, Submucous c... |
ORPHA:3201 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Acropectorovertebral Dysplasia |
|
Triphalangeal thumb, Camptodactyly of finger, Finger syndactyly, Synostosis of carpal bones, Pect... |
ORPHA:957 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Metaphyseal dysplasia, Genu valgum, Coxa vara, Short femoral neck, Abnormality of the epiphysis o... |
ORPHA:93316 |
Orofaciodigital Syndrome Xix |
|
Lobulated tongue, Narrow palate, Cleft soft palate, High palate, Tongue nodules, Toe syndactyly, ... |
OMIM:620107 |
Van Der Woude Syndrome |
|
Cleft upper lip, Lip pit, Lower lip pit, Hypodontia, Abnormal salivary gland morphology, Cleft pa... |
ORPHA:888 |
Birk-Barel Syndrome |
|
High palate, Bifid uvula, Short philtrum, Submucous cleft soft palate, Dysphagia, Tented upper li... |
OMIM:612292 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Posteriorly placed tongue, Submucous cleft hard palate, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental malocclusion, Cleft soft palate, Long philtrum, Partial duplication of the phalanx of hand... |
OMIM:616331 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Orofaciodigital Syndrome Type 10 |
|
Short tibia, Short toe, Cleft soft palate, Long philtrum, Metatarsal synostosis, Oligodactyly, Pr... |
ORPHA:2756 |
Robinow Syndrome, Autosomal Recessive 2 |
|
Cleft soft palate, Long philtrum, Gingival overgrowth, Clinodactyly, Camptodactyly, Broad hallux,... |
OMIM:618529 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Absent thumb, Bifid uvula, Submucous cleft hard palate, Hyperactivity |
OMIM:619239 |
Orofaciodigital Syndrome Iii |
|
Short sternum, Bifid tongue, Tongue nodules, Microdontia, Bifid uvula, Supernumerary tooth, Posta... |
OMIM:258850 |
Oculofaciocardiodental Syndrome |
|
2-3 toe syndactyly, Genu valgum, Tooth malposition, Long philtrum, Delayed eruption of teeth, Oli... |
ORPHA:2712 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, Cleft soft palate, Posterior rib gap, Cleft palate, Glossoptosis, Rib gap, A... |
OMIM:117650 |
Arthrogryposis, Distal, Type 3 |
|
Short phalanx of finger, Camptodactyly of finger, High palate, Cutaneous finger syndactyly, Campt... |
OMIM:114300 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated circulating alpha-fetoprotein concentration |
OMIM:615970 |
Schilbach-Rott Syndrome |
|
Bifid uvula, 3-4 finger cutaneous syndactyly, Clinodactyly, Submucous cleft hard palate, 2-3 toe ... |
OMIM:164220 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft palate, Cleft upper lip |
OMIM:179400 |
Chromosome 17Q12 Duplication Syndrome |
|
Cleft soft palate, Esophageal atresia, Broad thumb, Smooth philtrum, Brachydactyly |
OMIM:614526 |
Mucopolysaccharidosis, Type Ix |
|
Bifid uvula, Acetabular erosions, Submucous cleft hard palate, Finger joint hypermobility |
OMIM:601492 |
Cree Mental Retardation Syndrome |
|
Cleft soft palate, Cutaneous finger syndactyly, Aplasia/Hypoplasia of the ribs, Pectus excavatum,... |
OMIM:606851 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Short femoral neck, Coxa vara, Long philtrum, Velopharyngeal insufficiency, R... |
OMIM:614701 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Supernumerary ribs, Submucous cleft hard palate, Pectus excavatum, Scapular winging, Unilateral c... |
OMIM:619122 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
High palate, Thick lower lip vermilion, Bifid uvula, Submucous cleft hard palate, Supernumerary t... |
OMIM:617412 |
Epidermolysis Bullosa, Junctional 6, With Pyloric Atresia |
|
Congenital pyloric atresia, Neonatal death, Esophageal stenosis, Oral mucosal blisters |
OMIM:619817 |
Loeys-Dietz Syndrome 5 |
|
Congenital finger flexion contractures, High palate, Cleft soft palate, Eosinophilic infiltration... |
OMIM:615582 |
Orofaciodigital Syndrome Type 2 |
|
Short tibia, Broad first metatarsal, Bifid tongue, Taurodontia, Abnormal oral frenulum morphology... |
ORPHA:2751 |
W Syndrome |
|
Agenesis of maxillary central incisor, Upper lip pit, Radial bowing, Clinodactyly, Camptodactyly,... |
ORPHA:2804 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Microcephaly 30, Primary, Autosomal Recessive |
|
Pierre-Robin sequence, Thin upper lip vermilion, Clinodactyly of the 5th finger, Cleft soft palate |
OMIM:620183 |
Multiple Synostoses Syndrome 1 |
|
Thick upper lip vermilion, 2-3 toe syndactyly, Pectus excavatum, Dislocated radial head, Short ha... |
OMIM:186500 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Clinodactyly of the 5th finger, Submucous... |
OMIM:619314 |
Craniosynostosis 2 |
|
Triphalangeal thumb, Supernumerary tooth, Cleft soft palate, Brachydactyly |
OMIM:604757 |
Isolated Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate |
ORPHA:209908 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
Large iliac wing, Delayed eruption of teeth, Coarse metaphyseal trabecularization, Bifid uvula, S... |
ORPHA:2780 |
Orofaciodigital Syndrome Type 3 |
|
Short sternum, Irregular dentition, Lobulated tongue, Thoracic kyphosis, Bifid uvula, Postaxial f... |
ORPHA:2752 |
Hydrolethalus |
|
Gingival cleft, Bifid uvula, Submucous cleft hard palate, Postaxial hand polydactyly, Cleft palat... |
ORPHA:2189 |
Stickler Syndrome, Type I |
|
Pierre-Robin sequence, Bifid uvula, Submucous cleft hard palate, Pectus excavatum, Arachnodactyly... |
OMIM:108300 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Death in infancy |
ORPHA:99742 |
Myhre Syndrome |
|
Large iliac wing, Gingival cleft, Abnormal lip morphology, Bifid uvula, Submucous cleft hard pala... |
ORPHA:2588 |
Dysosteosclerosis |
|
Short diaphyses, Short sternum, Broad femoral neck, Broad ribs, High palate, Natal tooth, Short r... |
OMIM:224300 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Aplasia of the distal phalanx of the 5th finger, Aplasia of the distal phalanx of the 5th toe, Hi... |
OMIM:608670 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Conical tooth, Non-midline cleft lip, Finger syndactyly, Delayed eruption of teeth, Widely spaced... |
ORPHA:1071 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Esophageal atresia, Submucous cleft hard palate, Pectus excavatum, Tracheoesophageal fistula, Att... |
OMIM:619227 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High palate, Small hand, Long philtrum, High, narrow palate, Submucous cleft hard palate, Thin up... |
OMIM:612863 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Hypodontia, 3-4 finger cutaneous syndactyly, Clinodactyly of the 5th finger, Bifi... |
ORPHA:69085 |
Marbach-Schaaf Neurodevelopmental Syndrome |
|
Tapered finger, Submucous cleft hard palate, Thin upper lip vermilion, Downturned corners of mout... |
OMIM:619680 |
Intellectual Developmental Disorder, Autosomal Dominant 58 |
|
High palate, Wide mouth, Submucous cleft hard palate, Protruding tongue, Dental crowding, Thick v... |
OMIM:618106 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
|
Wide mouth, Thick lower lip vermilion, Submucous cleft hard palate, Attention deficit hyperactivi... |
OMIM:619103 |
Tessadori-Bicknell-Van Haaften Neurodevelopmental Syndrome 3 |
|
Tapered finger, Cleft soft palate, Microdontia, Smooth philtrum, Cleft palate, Eclabion, Agitatio... |
OMIM:619950 |
Rhizomelic Chondrodysplasia Punctata, Type 2 |
|
High palate, Epiphyseal stippling, Submucous cleft hard palate, Abnormal pelvic girdle bone morph... |
OMIM:222765 |
Campomelic Dysplasia |
|
Short phalanx of finger, Irregular dentition, Thoracic hypoplasia, Hallux valgus, Hip dislocation... |
OMIM:114290 |
8Q22.1 Microdeletion Syndrome |
|
Camptodactyly of finger, Finger syndactyly, Long philtrum, Submucous cleft hard palate, Sandal ga... |
ORPHA:178303 |
Meier-Gorlin Syndrome 5 |
|
Patellar aplasia, Long philtrum, Slender long bone, Clinodactyly, Submucous cleft hard palate, Hy... |
OMIM:613805 |
1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Adducted thumb, Short philtrum, Cleft soft palate, Smooth philtrum |
ORPHA:293725 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Delayed eruption of teeth, Bifid uvula, Clinodactyly of the 5th finger, Submucous cleft hard pala... |
OMIM:300990 |
Dubowitz Syndrome |
|
Aplasia/Hypoplasia of the thumb, High palate, Small hand, Wide mouth, Delayed eruption of teeth, ... |
ORPHA:235 |
Orofaciodigital Syndrome Type 4 |
|
Camptodactyly of finger, Bifid uvula, Abnormal oral frenulum morphology, Median cleft lip, Postax... |
ORPHA:2753 |
Branchiogenic-Deafness Syndrome |
|
Short distal phalanx of finger, Submucous cleft hard palate |
OMIM:609166 |
Native American Myopathy |
|
High palate, Bifid uvula, Camptodactyly, Submucous cleft soft palate, Downturned corners of mouth... |
ORPHA:168572 |
Ear-Patella-Short Stature Syndrome |
|
Camptodactyly of finger, Aplastic clavicle, Patellar aplasia, Slender long bone, Bifid uvula, Cli... |
ORPHA:2554 |
Cardiofaciocutaneous Syndrome 1 |
|
Dental malocclusion, High palate, Hyperextensibility of the finger joints, Deep philtrum, Clinoda... |
OMIM:115150 |
Branchioskeletogenital Syndrome |
|
Abnormality of the dentition, Bifid uvula, Submucous cleft hard palate, Short philtrum, Pectus ex... |
ORPHA:1299 |
Lenz-Majewski Hyperostotic Dwarfism |
|
Symphalangism affecting the phalanges of the hand, Aplastic clavicle, Finger syndactyly, Abnormal... |
ORPHA:2658 |
Coffin-Lowry Syndrome |
|
Dental malocclusion, Coxa valga, Tapered finger, Hyperextensibility of the finger joints, Short m... |
OMIM:303600 |
Marden-Walker Syndrome |
|
Camptodactyly of finger, Pyloric stenosis, Bifid uvula, Radioulnar synostosis, Submucous cleft ha... |
ORPHA:2461 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
|
High palate, Long philtrum, Pyloric stenosis, Submucous cleft hard palate, Congenital hip disloca... |
ORPHA:457279 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
|
Genu valgum, Hip contracture, Wide mouth, Deep philtrum, Microdontia, Short digit, Submucous clef... |
OMIM:619194 |
Walker-Warburg Syndrome |
|
Metatarsus valgus, Cleft palate, Bifid uvula, Submucous cleft hard palate |
ORPHA:899 |
Double Outlet Right Ventricle |
|
Intestinal malrotation, Cleft palate, Narrow mouth, Submucous cleft hard palate |
ORPHA:3426 |
Desmosterolosis |
|
Bifid uvula, Submucous cleft hard palate, Metatarsus adductus, Intestinal malrotation, Narrow mou... |
ORPHA:35107 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
|
Short 5th toe, Polydactyly, Tapered finger, Hallux valgus, Cleft soft palate, Widely spaced teeth... |
ORPHA:268261 |
Dubowitz Syndrome |
|
Hyperactivity, High palate, Delayed eruption of teeth, Velopharyngeal insufficiency, Clinodactyly... |
OMIM:223370 |
Treacher Collins Syndrome 1 |
|
Cleft soft palate, Wide mouth, Abnormal parotid gland morphology, Narrow mouth, Cleft palate |
OMIM:154500 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
|
Hallux valgus, Wide mouth, Widely spaced teeth, Short philtrum, Submucous cleft soft palate, Impu... |
OMIM:300967 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
|
Bifid uvula, Submucous cleft hard palate |
OMIM:617660 |
Blackfan-Diamond Anemia |
|
Triphalangeal thumb, Absent thumb, High palate, Cleft soft palate, Adenocarcinoma of the colon, P... |
ORPHA:124 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
|
Bifid uvula, Submucous cleft hard palate, Failure of eruption of permanent teeth, Cleft palate, T... |
ORPHA:2250 |
Viss Syndrome |
|
Bifid tongue, Cleft soft palate, Bifid uvula, Hip dislocation, Pectus excavatum, Submucous cleft ... |
OMIM:619472 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
|
Submucous cleft soft palate, Cleft soft palate |
ORPHA:2282 |
Velocardiofacial Syndrome |
|
Pierre-Robin sequence, Velopharyngeal insufficiency, Submucous cleft hard palate, Cleft palate, O... |
OMIM:192430 |
Craniorachischisis |
|
Bifid sternum, Anal atresia |
ORPHA:63260 |
Restrictive Dermopathy 1 |
|
Overtubulated long bones, Thin clavicles, Natal tooth, Submucous cleft hard palate, Congenital ps... |
OMIM:275210 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
|
Hip subluxation, Tapered finger, Cleft soft palate, Delayed eruption of teeth, Slender finger, Dy... |
OMIM:619503 |
Neu-Laxova Syndrome |
|
Abnormality of the philtrum, Bifid uvula, Submucous cleft hard palate, Everted lower lip vermilio... |
ORPHA:2671 |
Tolchin-Le Caignec Syndrome |
|
High palate, Submucous cleft hard palate, Clinodactyly of the 5th finger, Narrow mouth, Attention... |
OMIM:618971 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
|
Aplastic clavicle, Abnormal finger morphology, Large iliac wing, Aplasia/hypoplasia of the femur,... |
ORPHA:2636 |
Zttk Syndrome |
|
High palate, Small hand, Bifid uvula, Submucous cleft hard palate, Short philtrum, Cervical ribs,... |
OMIM:617140 |
Cardiofaciocutaneous Syndrome |
|
Genu valgum, High palate, Long philtrum, Submucous cleft hard palate, Pectus excavatum, Abnormal ... |
ORPHA:1340 |
Hardikar Syndrome |
|
Cleft soft palate, Intestinal malrotation, Celiac disease, Gastric varix, Esophageal varix, Unila... |
OMIM:301068 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
|
Genu valgum, Cleft soft palate, Intestinal malrotation, Downturned corners of mouth, Smooth philtrum |
OMIM:619321 |
Holoprosencephaly 13, X-Linked |
|
Submucous cleft hard palate, Median cleft lip, Solitary median maxillary central incisor, Cleft p... |
OMIM:301043 |
Chromosome 1P36 Deletion Syndrome, Distal |
|
Camptodactyly of finger, Bifid ribs, 11 pairs of ribs, Cleft upper lip, Short 5th finger, Long ph... |
OMIM:607872 |
Alpha-Fetoprotein Deficiency |
|
Decreased circulating alpha-fetoprotein concentration |
OMIM:615969 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
|
Absent thumb, Slender long bone, Bifid uvula, Short philtrum, Cervical ribs, Submucous cleft soft... |
ORPHA:500150 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
|
Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus excavatum, Broad hal... |
ORPHA:261537 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
|
Cleft soft palate |
OMIM:614557 |
Microphthalmia, Syndromic 2 |
|
2-3 toe syndactyly, Dental malocclusion, Long philtrum, Delayed eruption of teeth, Oligodontia, B... |
OMIM:300166 |
Mowat-Wilson Syndrome |
|
Tapered finger, Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus exca... |
ORPHA:2152 |
Neuroocular Syndrome |
|
Tapered finger, Hyperextensibility of the finger joints, Tibial torsion, Widely spaced teeth, Ank... |
OMIM:619539 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
|
Hallux valgus, Delayed eruption of teeth, Bifid uvula, Camptodactyly, Pectus excavatum, Broad hal... |
ORPHA:261552 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate, Attention deficit hyperactivity disorder |
OMIM:618891 |
Wiedemann-Rautenstrauch Syndrome |
|
Camptodactyly of finger, 2-3 toe syndactyly, Hypoplastic ilia, Natal tooth, Hip dysplasia, Hypodo... |
ORPHA:3455 |
Coffin-Siris Syndrome 12 |
|
Hip subluxation, High palate, Velopharyngeal insufficiency, Radioulnar synostosis, Submucous clef... |
OMIM:619325 |
Restrictive Dermopathy |
|
Camptodactyly of finger, Thin clavicles, Natal tooth, Microcolon, Submucous cleft hard palate, Ap... |
ORPHA:1662 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
|
Camptodactyly of finger, Neoplasm of the tongue, Bifid uvula, Submucous cleft hard palate, Clinod... |
ORPHA:3047 |
Mowat-Wilson Syndrome |
|
Delayed eruption of teeth, Widely spaced teeth, Aganglionic megacolon, Pyloric stenosis, Submucou... |
OMIM:235730 |
Holoprosencephaly 2 |
|
Bifid uvula, Submucous cleft hard palate, Median cleft lip and palate, Solitary median maxillary ... |
OMIM:157170 |