Cramps, Familial Adolescent |
|
Elevated circulating creatine kinase concentration |
OMIM:218050 |
Muscle Cramps, Familial |
|
Elevated circulating creatine kinase concentration |
OMIM:158400 |
Isolated Asymptomatic Elevation Of Creatine Phosphokinase |
|
Elevated circulating creatine kinase concentration |
ORPHA:206599 |
Hemochromatosis, Type 5 |
|
Increased circulating ferritin concentration |
OMIM:615517 |
Plasma Fibronectin Deficiency |
|
Reduced circulating fibronectin level |
OMIM:614101 |
Pentosuria |
|
Abnormality of circulating enzyme level, Abnormal circulating carbohydrate concentration |
ORPHA:2843 |
Orofacial Cleft 11 |
|
Cleft lip, Cleft palate |
OMIM:600625 |
Granulomas, Congenital Cerebral |
|
Neonatal death |
OMIM:306300 |
Genitourinary Tract Anomalies |
|
Neonatal death |
OMIM:305690 |
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 |
Uvula, Bifid |
|
Bifid uvula |
OMIM:192100 |
Cleft Soft Palate |
|
Cleft soft palate |
OMIM:119570 |
Van Der Woude Syndrome 2 |
|
Cleft upper lip, Cleft palate, Anodontia |
OMIM:606713 |
Omphalocele-Cleft Palate Syndrome, Lethal |
|
Death in infancy, Cleft palate, Bifid uvula |
OMIM:258320 |
Van Der Woude Syndrome 1 |
|
Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Bifid uvula |
OMIM:119300 |
Orofacial Cleft 1 |
|
Cleft upper lip, Cleft palate |
OMIM:119530 |
Orofacial Cleft 5 |
|
Cleft upper lip, Cleft palate |
OMIM:608874 |
Orofacial Cleft 6, Susceptibility To |
|
Cleft upper lip, Cleft palate |
OMIM:608864 |
Orofacial Cleft 13 |
|
Cleft soft palate, Oligodontia |
OMIM:613857 |
Congenital Velopharyngeal Incompetence |
|
Abnormal palate morphology, Velopharyngeal insufficiency |
ORPHA:2291 |
Ankyloblepharon Filiforme Adnatum And Cleft Palate |
|
Cleft upper lip, Cleft palate |
OMIM:106250 |
Cleft Palate With Or Without Ankyloglossia, X-Linked |
|
Ankyloglossia, Cleft palate, Bifid uvula |
OMIM:303400 |
Cleft Palate, Deafness, And Oligodontia |
|
Cleft soft palate, Sandal gap, Oligodontia of primary teeth, Short hallux, No permanent dentition |
OMIM:216300 |
Bifid Uvula |
|
Cleft lip, Bifid uvula, Submucous cleft soft palate |
ORPHA:99771 |
Nephrosis With Deafness And Urinary Tract And Digital Malformations |
|
Short distal phalanx of hallux, Bifid distal phalanx of the thumb, Partial duplication of the dis... |
OMIM:256200 |
Nephrosis-Deafness-Urinary Tract-Digital Malformations Syndrome |
|
Bifid distal phalanx of the thumb, Partial duplication of the distal phalanx of the hallux, Bifid... |
ORPHA:2669 |
Congenital Laryngomalacia |
|
Non-midline cleft lip, Cleft palate |
ORPHA:2373 |
Facial Palsy, Congenital, With Ptosis And Velopharyngeal Dysfunction |
|
Dysphagia, Velopharyngeal insufficiency |
OMIM:617732 |
Cleft Velum |
|
Cleft soft palate, Oral-pharyngeal dysphagia, Velopharyngeal insufficiency |
ORPHA:99772 |
Intellectual Developmental Disorder, X-Linked 90 |
|
High palate, Narrow chest, Bifid uvula |
OMIM:300850 |
Arthrogryposis, Distal, Type 1C |
|
Shoulder flexion contracture, Cleft palate, Adducted thumb, Rocker bottom foot, High palate, Thin... |
OMIM:619110 |
Erythrocyte Lactate Transporter Defect |
|
Elevated circulating creatine kinase concentration |
OMIM:245340 |
Anencephaly 2 |
|
Median cleft palate, Median cleft lip, Cleft of alveolar ridge of maxilla |
OMIM:619452 |
Multiple Epiphyseal Dysplasia, Lowry Type |
|
Small epiphyses, Fragmented epiphyses, Abnormal sternum morphology, Epiphyseal dysplasia, Delayed... |
ORPHA:166016 |
Pulmonary Hypoplasia, Primary |
|
Neonatal death |
OMIM:265430 |
Spondylometaphyseal Dysplasia, Schmidt Type |
|
Abnormal ilium morphology, Metaphyseal dysplasia, Short iliac bones, Irregular acetabular roof, C... |
ORPHA:93316 |
Satb2-Associated Syndrome Due To A Pathogenic Variant |
|
Dysphagia, Smooth philtrum, Cleft palate, High palate, Celiac disease, Long philtrum, Drooling, B... |
ORPHA:576283 |
Adducted Thumbs Syndrome |
|
High, narrow palate, Dysphagia, Cleft palate, High palate, Velopharyngeal insufficiency |
OMIM:201550 |
Schneckenbecken Dysplasia |
|
Anterior rib cupping, Cleft palate, Lateral clavicle hook, Hypoplastic scapulae, Metaphyseal irre... |
OMIM:269250 |
Epidermolysis Bullosa With Diaphragmatic Hernia |
|
Neonatal death |
OMIM:226735 |
Orofaciodigital Syndrome V |
|
Aganglionic megacolon, Cleft palate, Bifid uvula, Postaxial foot polydactyly, Postaxial hand poly... |
OMIM:174300 |
Orofaciodigital Syndrome Type 5 |
|
High, narrow palate, Hypodontia, Aganglionic megacolon, Agenesis of canine, Absent cupid's bow, C... |
ORPHA:2919 |
Zimmermann-Laband Syndrome 3 |
|
Thick lower lip vermilion, High palate, Triphalangeal thumb, Gingival overgrowth, Bifid uvula, Lo... |
OMIM:618658 |
Hernia, Anterior Diaphragmatic |
|
Neonatal death |
OMIM:306950 |
Auriculocondylar Syndrome 3 |
|
Bifid uvula, Glossoptosis |
OMIM:615706 |
Cleft Lip/Palate |
|
Peg-shaped maxillary lateral incisors, Cleft palate, Agenesis of lateral incisor, Palate fistula,... |
ORPHA:199306 |
Orofaciodigital Syndrome Iii |
|
Pectus excavatum, Microdontia, Tongue nodules, Supernumerary tooth, Bifid uvula, Short sternum, B... |
OMIM:258850 |
Robinow Syndrome, Autosomal Dominant 2 |
|
Dental crowding, Long philtrum, Cleft soft palate, Gingival overgrowth, Partial duplication of th... |
OMIM:616331 |
Spastic Paraplegia 81, Autosomal Recessive |
|
Cleft palate, Bifid uvula |
OMIM:618768 |
Mucopolysaccharidosis, Type Ix |
|
Submucous cleft hard palate, Bifid uvula, Acetabular erosions |
OMIM:601492 |
Microcephaly-Cleft Palate-Abnormal Retinal Pigmentation Syndrome |
|
Submucous cleft hard palate, Cleft palate, Bifid uvula |
ORPHA:2521 |
Lethal Omphalocele-Cleft Palate Syndrome |
|
Cleft soft palate, Unilateral cleft lip, Cleft palate, Bifid uvula |
ORPHA:2736 |
Stickler Syndrome, Type Ii |
|
High, narrow palate, Cleft palate, Pierre-Robin sequence, Long fingers, Arachnodactyly, Bifid uvula |
OMIM:604841 |
Acropectorovertebral Dysplasia |
|
Tarsal synostosis, High, narrow palate, Pectus excavatum, Cleft palate, Triphalangeal thumb, Syno... |
ORPHA:957 |
Limb-Mammary Syndrome |
|
Hallux valgus, Hypodontia, Cleft palate, Bifid uvula, Split hand, Syndactyly, Camptodactyly, Spli... |
OMIM:603543 |
Coffin-Siris Syndrome 11 |
|
High palate, Wide mouth, Cleft soft palate, Small hand, Esophageal atresia, Bifid uvula, Downturn... |
OMIM:618779 |
Short-Rib Thoracic Dysplasia 9 With Or Without Polydactyly |
|
Widely spaced teeth, High palate, Cone-shaped epiphysis, Microdontia, Wide mouth, Macroglossia, A... |
OMIM:266920 |
Ventricular Extrasystoles With Syncopal Episodes-Perodactyly-Robin Sequence Syndrome |
|
High, narrow palate, Hypodontia, Tapered finger, Glossoptosis, Short foot, Short distal phalanx o... |
ORPHA:3201 |
Van Der Woude Syndrome |
|
Abnormal salivary gland morphology, Hypodontia, Cleft palate, Cleft upper lip, Lower lip pit, Lip... |
ORPHA:888 |
Polydactyly, Postaxial, With Dental And Vertebral Anomalies |
|
Tarsal synostosis, Toe syndactyly, 2-3 toe syndactyly, Short middle phalanx of finger, Short poin... |
OMIM:263540 |
Autosomal Recessive Complex Spastic Paraplegia Due To Kennedy Pathway Dysfunction |
|
Cleft palate, Bifid uvula |
ORPHA:506353 |
Arthrogryposis, Distal, Type 3 |
|
Cutaneous finger syndactyly, Pectus excavatum, Cleft palate, High palate, Submucous cleft hard pa... |
OMIM:114300 |
Temple Syndrome |
|
Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Short foot, Clinodactyly |
OMIM:616222 |
Cleft, Median, Of Upper Lip With Polyps Of Facial Skin And Nasal Mucosa |
|
Median cleft lip, High palate, Bifid uvula |
OMIM:155145 |
Hemifacial Hyperplasia With Strabismus |
|
Submucous cleft hard palate |
OMIM:141350 |
Desbuquois Dysplasia 2 |
|
Monkey wrench femoral neck, Genu varum, Cleft palate, Epiphyseal dysplasia, Toe clinodactyly, Sho... |
OMIM:615777 |
Neutropenia, Lethal Congenital, With Eosinophilia |
|
Neonatal death |
OMIM:257100 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 3 |
|
Hypodontia, High palate, Flat capital femoral epiphysis, Tapered finger, Dislocated radial head, ... |
OMIM:612350 |
Birk-Barel Syndrome |
|
Dysphagia, High palate, Short philtrum, Bifid uvula, Tented upper lip vermilion, Submucous cleft ... |
OMIM:612292 |
Bencze Syndrome |
|
Submucous cleft hard palate, Open bite |
ORPHA:1241 |
Alpha-Fetoprotein, Hereditary Persistence Of |
|
Elevated alpha-fetoprotein |
OMIM:615970 |
Ventricular Extrasystoles With Syncope, Perodactyly, And Robin Sequence |
|
Submucous cleft hard palate, Posteriorly placed tongue, Pierre-Robin sequence, Aplasia/Hypoplasia... |
OMIM:192445 |
Temple Syndrome |
|
Polyphagia, Small hand, Bifid uvula, Short foot, Clinodactyly of the 5th finger |
ORPHA:254516 |
Moebius Syndrome |
|
Dysphagia, High palate, Lower limb undergrowth, Bifid uvula, Aplasia/Hypoplasia involving the met... |
OMIM:157900 |
Cree Mental Retardation Syndrome |
|
Cutaneous finger syndactyly, Pectus excavatum, Rocker bottom foot, Cleft soft palate, Aplasia/Hyp... |
OMIM:606851 |
Orofaciodigital Syndrome Type 10 |
|
Fibular aplasia, Tarsal synostosis, Polysyndactyly of hallux, Long philtrum, Cleft soft palate, A... |
ORPHA:2756 |
Orofaciodigital Syndrome Type 3 |
|
Pectus excavatum, Irregular dentition, Hamartoma of tongue, Bifid uvula, Short sternum, Thoracic ... |
ORPHA:2752 |
Oculofaciocardiodental Syndrome |
|
Abnormal palate morphology, 2-3 toe syndactyly, Cleft palate, Oligodontia, Hammertoe, Long philtr... |
ORPHA:2712 |
Childhood Apraxia Of Speech |
|
Submucous cleft hard palate, High, narrow palate, Drooling |
ORPHA:209908 |
Radius, Aplasia Of, With Cleft Lip/Palate |
|
Cleft upper lip, Cleft palate |
OMIM:179400 |
Burn-Mckeown Syndrome |
|
2-3 toe syndactyly, Cleft palate, Short philtrum, Cleft upper lip, Thin vermilion border, Bifid u... |
OMIM:608572 |
Neurodevelopmental Disorder With Microcephaly, Arthrogryposis, And Structural Brain Anomalies |
|
Smooth philtrum, Death in infancy, Adducted thumb, Rocker bottom foot, Short philtrum, Thin vermi... |
OMIM:618622 |
Multiple Synostoses Syndrome 1 |
|
Short lower limbs, 2-3 toe syndactyly, Cutaneous finger syndactyly, Lower limb undergrowth, Enlar... |
OMIM:186500 |
Brachycephaly, Trichomegaly, And Developmental Delay |
|
Thick lower lip vermilion, High palate, Submucous cleft hard palate, Supernumerary tooth, Thin ve... |
OMIM:617412 |
Kleefstra Syndrome 2 |
|
Bifid uvula, Everted lower lip vermilion |
OMIM:617768 |
Temple Syndrome Due To Maternal Uniparental Disomy Of Chromosome 14 |
|
Pyloric stenosis, Cleft palate, High palate, Short philtrum, Small hand, Bifid uvula, Short foot,... |
ORPHA:96184 |
Otospondylomegaepiphyseal Dysplasia |
|
Tibial bowing, Fibular bowing, Cleft palate, Epiphyseal dysplasia, Abnormality of long bone morph... |
ORPHA:1427 |
Pai Syndrome |
|
Median cleft lip, Cleft palate, Bifid uvula, Abnormal oral frenulum morphology |
ORPHA:1993 |
Cornelia De Lange Syndrome 4 With Or Without Midline Brain Defects |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Pectus carinatum, Long philtrum, Enamel agenes... |
OMIM:614701 |
Vertebral Hypersegmentation And Orofacial Anomalies |
|
Pectus excavatum, Unilateral cleft lip, Unilateral cleft palate, Supernumerary ribs, Scapular win... |
OMIM:619122 |
Chromosome 17Q12 Duplication Syndrome |
|
Smooth philtrum, Cleft soft palate, Esophageal atresia, Broad thumb, Brachydactyly |
OMIM:614526 |
Cardiocranial Syndrome, Pfeiffer Type |
|
High, narrow palate, Bifid uvula, Slender finger, Broad philtrum, Contracture of the proximal int... |
ORPHA:2872 |
Hemangiomas, Cavernous, Of Face And Supraumbilical Midline Raphe |
|
Bifid sternum, Supraumbilical raphe |
OMIM:140850 |
Craniosynostosis 2 |
|
Cleft soft palate, Supernumerary tooth, Triphalangeal thumb, Brachydactyly |
OMIM:604757 |
Stickler Syndrome, Type I |
|
Pectus excavatum, Cleft palate, Pierre-Robin sequence, Arachnodactyly, Bifid uvula, Abnormality o... |
OMIM:108300 |
Neurodevelopmental Disorder With Or Without Autism Or Seizures |
|
Submucous cleft hard palate, Bifid uvula, Absent thumb |
OMIM:619239 |
Schilbach-Rott Syndrome |
|
Bifid uvula, 2-3 toe cutaneous syndactyly, Narrow mouth, 3-4 finger cutaneous syndactyly, Clinoda... |
OMIM:164220 |
Cerebrocostomandibular Syndrome |
|
Thoracic hypoplasia, High palate, Long philtrum, Cleft soft palate, Congenital hip dislocation, G... |
OMIM:117650 |
Zimmermann-Laband Syndrome |
|
Hallux valgus, Hypodontia, Cleft palate, High palate, Overtubulated long bones, Wide mouth, Macro... |
ORPHA:3473 |
Sternum, Premature Obliteration Of Sutures Of |
|
Short sternum, Premature sternal synostosis |
OMIM:184800 |
Buratti-Harel Syndrome |
|
High palate, Velopharyngeal insufficiency, Bifid uvula, Broad hallux, Broad thumb, Clinodactyly o... |
OMIM:619314 |
Robin Sequence With Cleft Mandible And Limb Anomalies |
|
Tibial deviation of toes, Cleft palate, High palate, Pierre-Robin sequence, Fibular hypoplasia, P... |
OMIM:268305 |
Rapp-Hodgkin Syndrome |
|
Hypodontia, Cleft palate, Microdontia, Cleft upper lip, Velopharyngeal insufficiency, Bifid uvula... |
OMIM:129400 |
Intellectual Disability-Facial Dysmorphism Syndrome Due To Setd5 Haploinsufficiency |
|
2-3 toe syndactyly, Cleft palate, Smooth philtrum, Postaxial polydactyly, Long philtrum, Broad di... |
ORPHA:404440 |
Orofaciodigital Syndrome Type 2 |
|
Cleft palate, Hamartoma of tongue, Unilateral alveolar cleft of maxilla, Finger syndactyly, Broad... |
ORPHA:2751 |
Congenital Disorder Of Glycosylation, Type Id |
|
High palate, Villous atrophy, Adducted thumb, Long fingers, Clinodactyly of the 5th toe, Bifid uv... |
OMIM:601110 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snijders Blok Type |
|
Cleft upper lip, Cleft palate, Bifid uvula |
OMIM:300958 |
Amish Lethal Microcephaly |
|
Cleft soft palate, Death in infancy |
ORPHA:99742 |
W Syndrome |
|
Metatarsus adductus, Radial bowing, Agenesis of maxillary central incisor, Upper lip pit, Broad u... |
ORPHA:2804 |
Osteopathia Striata-Cranial Sclerosis Syndrome |
|
High, narrow palate, Cleft palate, Asymmetry of the thorax, Abnormality of the metaphysis, Delaye... |
ORPHA:2780 |
Tetrasomy 12P |
|
Long philtrum, Thick upper lip vermilion, Delayed eruption of teeth, Anal atresia, Abnormal soft ... |
ORPHA:884 |
Diamond-Blackfan Anemia 6 |
|
Cleft palate, Triphalangeal thumb, Cleft upper lip, Bifid uvula, Short thumb |
OMIM:612561 |
Auriculocondylar Syndrome |
|
Mandibular condyle aplasia, Cleft palate, Dental crowding, Hamartoma of tongue, Microglossia, Bif... |
ORPHA:137888 |
Pallister W Syndrome |
|
Metatarsus adductus, Agenesis of central incisor, Radial bowing, Agenesis of maxillary central in... |
OMIM:311450 |
Loeys-Dietz Syndrome 5 |
|
Pectus excavatum, Cleft palate, Smooth philtrum, Flexion contracture of toe, Congenital finger fl... |
OMIM:615582 |
Autosomal Recessive Centronuclear Myopathy |
|
High palate, Long fingers, Bifid uvula, Narrow mouth, Scapular winging |
ORPHA:169186 |
Hydrolethalus |
|
Cleft palate, Gingival cleft, Bifid uvula, Unilateral cleft lip, Postaxial hand polydactyly, Subm... |
ORPHA:2189 |
Cri-Du-Chat Syndrome |
|
Thick lower lip vermilion, Metatarsus adductus, High palate, Short philtrum, Short metatarsal, Bi... |
OMIM:123450 |
Spondyloepiphyseal Dysplasia Congenita |
|
Cleft palate, Pierre-Robin sequence, Pectus carinatum, Delayed calcaneal ossification, Bifid uvul... |
OMIM:183900 |
Dysosteosclerosis |
|
Broad femoral neck, Abnormal metaphyseal trabeculation, High palate, Diaphyseal thickening, Prema... |
OMIM:224300 |
Emanuel Syndrome |
|
Dysphagia, High palate, Cleft palate, Ectopic anus, Long philtrum, Submucous cleft lip, Tooth mal... |
ORPHA:96170 |
Myhre Syndrome |
|
Abnormal lip morphology, Cleft palate, Abnormality of epiphysis morphology, Gingival cleft, Thin ... |
ORPHA:2588 |
Neurodevelopmental Disorder With Cardiomyopathy, Spasticity, And Brain Abnormalities |
|
2-3 toe syndactyly, Adducted thumb, Short philtrum, Long philtrum, Proximal placement of thumb, D... |
OMIM:619121 |
Osteopathia Striata With Cranial Sclerosis |
|
Cleft palate, Pierre-Robin sequence, Camptodactyly, High palate, Osteopathia striata, Fibular hyp... |
OMIM:300373 |
Intellectual Developmental Disorder, X-Linked, Syndromic, Snyder-Robinson Type |
|
Thick lower lip vermilion, High, narrow palate, Pectus excavatum, Cleft palate, Smooth philtrum, ... |
OMIM:309583 |
Megalocornea-Mental Retardation Syndrome |
|
Dysphagia, High palate, Long philtrum, Bifid uvula, Arachnodactyly, Genu valgum |
OMIM:249310 |
Growth Retardation, Developmental Delay, And Facial Dysmorphism |
|
Cleft palate, Macroglossia, Bifid uvula, Protruding tongue, Brachydactyly |
OMIM:612938 |
Limb-Mammary Syndrome |
|
Toe syndactyly, Hypodontia, Cleft palate, Bifid uvula, Cleft lip, Syndactyly, 3-4 finger cutaneou... |
ORPHA:69085 |
Robin Sequence With Distinctive Facial Appearance And Brachydactyly |
|
Cleft palate, Smooth philtrum, Pierre-Robin sequence, Oligodontia, Short finger, Aplasia of the d... |
OMIM:608670 |
Hypomandibular Faciocranial Dysostosis |
|
Cleft palate, Death in infancy, Aplasia/Hypoplasia of the tongue, Bifid uvula, Narrow mouth |
ORPHA:1790 |
Loeys-Dietz Syndrome 4 |
|
High, narrow palate, High palate, Abnormal sternum morphology, Arachnodactyly, Bifid uvula, Eosin... |
OMIM:614816 |
Chromosome 6Q24-Q25 Deletion Syndrome |
|
High, narrow palate, Smooth philtrum, High palate, Long philtrum, Submucous cleft hard palate, Sm... |
OMIM:612863 |
Hyperphosphatasia-Intellectual Disability Syndrome |
|
Pectus excavatum, High palate, Aganglionic megacolon, Short philtrum, Shortening of all distal ph... |
ORPHA:247262 |
Ankyloblepharon-Ectodermal Defects-Cleft Lip/Palate Syndrome |
|
Widely spaced teeth, Hypodontia, Cleft palate, Abnormal dental enamel morphology, Delayed eruptio... |
ORPHA:1071 |
Hypoparathyroidism-Retardation-Dysmorphism Syndrome |
|
Long philtrum, Thin vermilion border, Small hand, Bifid uvula, Short foot, Short palm |
OMIM:241410 |
Renal Dysplasia-Limb Defects Syndrome |
|
Fibular aplasia, High palate, Thin ribs, Phocomelia, Aplasia of the ulna, Neonatal death, Thin ve... |
OMIM:266910 |
Intellectual Developmental Disorder, X-Linked 99, Syndromic, Female-Restricted |
|
Cleft palate, Smooth philtrum, Tapered finger, Postaxial polydactyly, Long philtrum, Small hand, ... |
OMIM:300968 |
8Q22.1 Microdeletion Syndrome |
|
Long philtrum, Sandal gap, Finger syndactyly, Camptodactyly of finger, Abnormality of the dentiti... |
ORPHA:178303 |
15Q Overgrowth Syndrome |
|
High, narrow palate, Smooth philtrum, High palate, Abnormal coccyx morphology, Abnormal sternum m... |
ORPHA:314585 |
Midface Hypoplasia, Hearing Impairment, Elliptocytosis, And Nephrocalcinosis |
|
Submucous cleft hard palate, Broad distal phalanx of finger, Bifid uvula, Delayed eruption of tee... |
OMIM:300990 |
Hypogonadotropic Hypogonadism-Severe Microcephaly-Sensorineural Hearing Loss-Dysmorphism Syndrome |
|
Hypoplasia of the tooth germ, Bifid uvula, Genu valgum, Sprengel anomaly, Broad hallux, Contractu... |
ORPHA:293967 |
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 1 |
|
Short clavicles, Cleft palate, Pectus carinatum, Bowing of the long bones, Dislocated radial head... |
OMIM:130070 |
Steinfeld Syndrome |
|
Phocomelia, Aplasia/Hypoplasia of the thumb, Median cleft lip and palate, Missing ribs, Bifid uvu... |
OMIM:184705 |
Camptodactyly Syndrome, Guadalajara, Type I |
|
Hallux valgus, Short metatarsal, Toe syndactyly, High palate, Pectus carinatum, Fibular hypoplasi... |
OMIM:211910 |
Apert Syndrome |
|
Pyloric stenosis, Cutaneous finger syndactyly, Cleft palate, Ectopic anus, Synostosis of carpal b... |
OMIM:101200 |
Chromosome 18Q Deletion Syndrome |
|
Toe syndactyly, Cleft palate, Short philtrum, Rocker bottom foot, U-Shaped upper lip vermilion, C... |
OMIM:601808 |
Branchiootorenal Syndrome 1 |
|
High palate, Cleft palate, Microdontia, Congenital hip dislocation, Intestinal malrotation, Bifid... |
OMIM:113650 |
Orofaciodigital Syndrome Type 4 |
|
Genu varum, Cleft palate, Finger syndactyly, Camptodactyly of finger, Perineal fistula, Anal atre... |
ORPHA:2753 |
Branchioskeletogenital Syndrome |
|
Carious teeth, Pectus excavatum, Premature loss of teeth, Short philtrum, Thin vermilion border, ... |
ORPHA:1299 |
Ear-Patella-Short Stature Syndrome |
|
High, narrow palate, Cleft palate, Patellar aplasia, Abnormality of epiphysis morphology, Aplasti... |
ORPHA:2554 |
Progeria-Short Stature-Pigmented Nevi Syndrome |
|
Hypodontia, Bifid uvula, Selective tooth agenesis, Short distal phalanx of finger, Dental maloccl... |
ORPHA:2959 |
Vertebral, Cardiac, Tracheoesophageal, Renal, And Limb Defects |
|
Pectus excavatum, Duodenal atresia, Esophageal atresia, Sprengel anomaly, Tracheoesophageal fistu... |
OMIM:619227 |
1Q41Q42 Microdeletion Syndrome |
|
Cleft palate, Submucous cleft hard palate, Thick vermilion border |
ORPHA:250999 |
Frontometaphyseal Dysplasia 2 |
|
Pyloric stenosis, Pectus excavatum, Cleft palate, High palate, Pierre-Robin sequence, Short philt... |
OMIM:617137 |
Apert Syndrome |
|
Toe syndactyly, Cleft palate, Ectopic anus, Aplasia/Hypoplasia of the thumb, Esophageal atresia, ... |
ORPHA:87 |
Lenz-Majewski Hyperostotic Dwarfism |
|
High, narrow palate, Cleft palate, Wide mouth, Symphalangism affecting the phalanges of the hand,... |
ORPHA:2658 |
Blepharophimosis-Intellectual Disability Syndrome, Verloes Type |
|
Cleft soft palate, Smooth philtrum, Short philtrum, Adducted thumb |
ORPHA:293725 |
Coffin-Lowry Syndrome |
|
Widely spaced teeth, Pectus excavatum, Rectal prolapse, Hypodontia, High palate, Pectus carinatum... |
OMIM:303600 |
Neurodevelopmental Disorder With Dysmorphic Facies, Sleep Disturbance, And Brain Abnormalities |
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Thick lower lip vermilion, Wide mouth, Unilateral cleft lip, Unilateral cleft palate, Submucous c... |
OMIM:619103 |
Prader-Willi Syndrome Due To Translocation |
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Carious teeth, Cleft palate, High palate, Wide mouth, Triangular-shaped open mouth, Microdontia o... |
ORPHA:177907 |
Elsahy-Waters Syndrome |
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Thick lower lip vermilion, Pectus excavatum, High palate, Long philtrum, Bifid uvula, Delayed eru... |
OMIM:211380 |
Branchiogenic-Deafness Syndrome |
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Submucous cleft hard palate, Short distal phalanx of finger |
OMIM:609166 |
Meckel Syndrome 12 |
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Bifid uvula, Rocker bottom foot |
OMIM:616258 |
Corpus Callosum, Agenesis Of, With Impaired Intellectual Development, Ocular Coloboma, And Micrognathia |
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Pectus excavatum, High palate, Bifid uvula |
OMIM:300472 |
Cardiofaciocutaneous Syndrome 1 |
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Pectus excavatum, Shield chest, High palate, Pectus carinatum, Open bite, Submucous cleft hard pa... |
OMIM:115150 |
Baller-Gerold Syndrome |
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Aplasia of metacarpal bones, Rib fusion, Cleft palate, High palate, Perineal fistula, Carpal bone... |
OMIM:218600 |
Intellectual Disability-Macrocephaly-Hypotonia-Behavioral Abnormalities Syndrome |
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Pyloric stenosis, High palate, Long philtrum, Impaired mastication, Congenital hip dislocation, T... |
ORPHA:457279 |
Walker-Warburg Syndrome |
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Metatarsus valgus, Bifid uvula, Cleft palate, Submucous cleft hard palate |
ORPHA:899 |
Native American Myopathy |
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High palate, Cleft palate, Bifid uvula, Downturned corners of mouth, Submucous cleft soft palate,... |
ORPHA:168572 |
Craniolenticulosutural Dysplasia |
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Carious teeth, Cleft palate, Smooth philtrum, Wide mouth, Long philtrum, Bifid uvula, Delayed eru... |
OMIM:607812 |
Dubowitz Syndrome |
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Toe syndactyly, Pectus excavatum, Metatarsus adductus, Rectal prolapse, High palate, Wide mouth, ... |
ORPHA:235 |
Desmosterolosis |
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Metatarsus adductus, Cleft palate, Bifid uvula, Intestinal malrotation, Narrow mouth, Submucous c... |
ORPHA:35107 |
Hereditary Angioedema Type 1 |
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Tongue edema, Dysphagia, Intestinal edema, Abnormality of salivation, Abnormal soft palate morpho... |
ORPHA:100050 |
Holoprosencephaly 3 |
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Cleft lip, Solitary median maxillary central incisor, Cleft palate, Bifid uvula |
OMIM:142945 |
Frontometaphyseal Dysplasia |
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Cleft palate, Oligodontia, Metaphyseal widening, Short metatarsal, Long fingers, Dislocated radia... |
ORPHA:1826 |
Opitz Gbbb Syndrome, Type Ii |
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Dysphagia, Cleft palate, High palate, Smooth philtrum, Short lingual frenulum, Cleft upper lip, B... |
OMIM:145410 |
Marden-Walker Syndrome |
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Pyloric stenosis, Metatarsus adductus, Pectus excavatum, Cleft palate, Pectus carinatum, Arachnod... |
ORPHA:2461 |
Double Outlet Right Ventricle |
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Cleft palate, Narrow mouth, Submucous cleft hard palate, Intestinal malrotation |
ORPHA:3426 |
Vertebral, Cardiac, Renal, And Limb Defects Syndrome 1 |
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Cleft palate, Bifid uvula |
OMIM:617660 |
Hyposmia-Nasal And Ocular Hypoplasia-Hypogonadotropic Hypogonadism Syndrome |
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Cleft palate, Failure of eruption of permanent teeth, Tooth malposition, Bifid uvula, Submucous c... |
ORPHA:2250 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome |
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Cleft palate, High palate, Oligodontia, Macroglossia, Furrowed tongue, Bifid uvula, Downturned co... |
ORPHA:453499 |
Lacrimoauriculodentodigital Syndrome |
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Carious teeth, Abnormal dental enamel morphology, Hypoplasia of the radius, Finger syndactyly, Sy... |
ORPHA:2363 |
Neu-Laxova Syndrome |
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Cleft palate, Abnormality of the philtrum, Bifid uvula, Abnormality of the mouth, Everted lower l... |
ORPHA:2671 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To A Point Mutation |
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High, narrow palate, Cleft palate, Open bite, Postaxial polydactyly, Macroglossia, Exaggerated me... |
ORPHA:453504 |
Neurodevelopmental Disorder-Craniofacial Dysmorphism-Cardiac Defect-Skeletal Anomalies Syndrome Due To 9Q21.3 Microdeletion |
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High, narrow palate, Cleft palate, Open bite, Postaxial polydactyly, Macroglossia, Exaggerated me... |
ORPHA:352665 |
Craniorachischisis |
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Bifid sternum, Anal atresia |
ORPHA:63260 |
Neurofacioskeletal Syndrome With Or Without Renal Agenesis |
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Pectus excavatum, Microdontia, Wide mouth, Macroglossia, Broad distal phalanx of finger, Deep phi... |
OMIM:619194 |
Noonan Syndrome-Like Disorder With Loose Anagen Hair 2 |
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Widely spaced teeth, Pectus excavatum, Smooth philtrum, High palate, Pectus carinatum, Long philt... |
OMIM:617506 |
Trisomy 8P |
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Cleft palate, Short fifth metatarsal, Thin vermilion border, Clinodactyly of the 5th toe, Bifid u... |
ORPHA:264450 |
Meester-Loeys Syndrome |
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Abnormal sternum morphology, Bifid uvula, Camptodactyly |
OMIM:300989 |
Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii |
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Bifid femur, Cleft palate, Submucous cleft hard palate, Aplastic clavicle, Abnormality of the met... |
ORPHA:2636 |
Zttk Syndrome |
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High palate, Short philtrum, Small hand, Thin vermilion border, Bifid uvula, Short foot, Cervical... |
OMIM:617140 |
Dyrk1A-Related Intellectual Disability Syndrome Due To 21Q22.13Q22.2 Microdeletion |
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Widely spaced teeth, Hallux valgus, Pectus excavatum, Short 5th toe, Pyloric stenosis, Polydactyl... |
ORPHA:268261 |
Alpha-Fetoprotein Deficiency |
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Decreased levels of alpha-fetoprotein |
OMIM:615969 |
Treacher Collins Syndrome 1 |
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Cleft palate, Wide mouth, Cleft soft palate, Abnormal parotid gland morphology, Narrow mouth |
OMIM:154500 |
Restrictive Dermopathy 1 |
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Thin clavicles, Increased anterioposterior diameter of thorax, Overtubulated long bones, Rocker b... |
OMIM:275210 |
Neurodevelopmental Disorder With Dysmorphic Features, Spasticity, And Brain Abnormalities |
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Bifid uvula, Enamel hypoplasia, Abnormality of the dentition, Wide mouth |
OMIM:615802 |
Dubowitz Syndrome |
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Carious teeth, High palate, Velopharyngeal insufficiency, Delayed eruption of teeth, Syndactyly, ... |
OMIM:223370 |
Loeys-Dietz Syndrome |
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Pectus excavatum, High palate, Pectus carinatum, Arachnodactyly, Bifid uvula, Camptodactyly of fi... |
ORPHA:60030 |
Blackfan-Diamond Anemia |
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High palate, Triphalangeal thumb, Cleft soft palate, Adenocarcinoma of the colon, Sprengel anomal... |
ORPHA:124 |
Velocardiofacial Syndrome |
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Cleft palate, Pierre-Robin sequence, Velopharyngeal insufficiency, Open mouth, Submucous cleft ha... |
OMIM:192430 |
Viss Syndrome |
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Submucous cleft soft palate, High palate, Rocker bottom foot, Pectus carinatum, Celiac disease, C... |
OMIM:619472 |
Alg9-Cdg |
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Broad ischia, Smooth philtrum, Villous atrophy, Radial deviation of the thumb, Wide mouth, Long p... |
ORPHA:79328 |
Ehlers-Danlos Syndrome, Kyphoscoliotic Type, 2 |
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Cleft soft palate |
OMIM:614557 |
Intellectual Developmental Disorder, X-Linked, Syndromic 34 |
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Widely spaced teeth, Hallux valgus, High, narrow palate, Wide mouth, Short philtrum, Synostosis o... |
OMIM:300967 |
Congenital Disorder Of Glycosylation, Type It |
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Bifid uvula, Cleft palate, Pierre-Robin sequence |
OMIM:614921 |
Holoprosencephaly 13, X-Linked |
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Cleft palate, Duodenal atresia, Submucous cleft hard palate, Solitary median maxillary central in... |
OMIM:301043 |
Tetrasomy 9P |
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Cleft palate, High palate, Short philtrum, Hypoplastic scapulae, Median cleft lip and palate, Mis... |
ORPHA:3310 |
Dysmorphism-Short Stature-Deafness-Disorder Of Sex Development Syndrome |
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Cleft soft palate, Submucous cleft soft palate |
ORPHA:2282 |
Cardiofaciocutaneous Syndrome |
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Abnormality of the ulna, High palate, Pectus excavatum, Long philtrum, Genu valgum, Submucous cle... |
ORPHA:1340 |
Holoprosencephaly 2 |
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Bifid uvula, Solitary median maxillary central incisor, Submucous cleft hard palate, Median cleft... |
OMIM:157170 |
Microphthalmia, Syndromic 2 |
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2-3 toe syndactyly, Oligodontia, Hammertoe, Long philtrum, Submucous cleft hard palate, Supernume... |
OMIM:300166 |
Chromosome 1P36 Deletion Syndrome, Distal |
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Metatarsus adductus, Dysphagia, High palate, Bifid ribs, Long philtrum, Submucous cleft hard pala... |
OMIM:607872 |
Mowat-Wilson Syndrome Due To Monosomy 2Q22 |
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Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Long hallux... |
ORPHA:261537 |
Loeys-Dietz Syndrome 2 |
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Pectus excavatum, Cleft palate, Pectus carinatum, Postaxial polydactyly, Abnormal sternum morphol... |
OMIM:610168 |
Mowat-Wilson Syndrome |
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Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Broad hallu... |
ORPHA:2152 |
Ring Chromosome 7 Syndrome |
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Cleft palate, Short philtrum, Small hand, Thin vermilion border, Short 5th finger, Genu valgum, 3... |
ORPHA:1449 |
Loeys-Dietz Syndrome 1 |
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Cleft palate, Abnormal sternum morphology, Arachnodactyly, Bifid uvula, Eosinophilic infiltration... |
OMIM:609192 |
Trichohepatoenteric Syndrome 1 |
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Villous atrophy, Wide mouth, Long philtrum, Bifid uvula, Narrow mouth |
OMIM:222470 |
Neurodevelopmental Disorder With Hypotonia And Dysmorphic Facies |
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Dysphagia, High palate, Dental crowding, Esophageal varix, Wide mouth, Tapered finger, Cleft soft... |
OMIM:619503 |
Brain Malformations-Musculoskeletal Abnormalities-Facial Dysmorphism-Intellectual Disability Syndrome |
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Dysphagia, Cleft palate, Smooth philtrum, Short philtrum, Thin vermilion border, Arachnodactyly, ... |
ORPHA:500150 |
Growth Restriction, Hypoplastic Kidneys, Alopecia, And Distinctive Facies |
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Smooth philtrum, Cleft soft palate, Intestinal malrotation, Genu valgum, Downturned corners of mouth |
OMIM:619321 |
Aneurysm-Osteoarthritis Syndrome |
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Pectus excavatum, Cleft palate, High palate, Pectus carinatum, Arachnodactyly, Bifid uvula, Osteo... |
ORPHA:284984 |
Pallister-Hall Syndrome |
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Polydactyly affecting the 4th finger, Cleft palate, Broad toe, Accessory oral frenulum, Microglos... |
ORPHA:672 |
Mowat-Wilson Syndrome Due To A Zeb2 Point Mutation |
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Pyloric stenosis, Hallux valgus, Cleft palate, Delayed eruption of teeth, Syndactyly, Long hallux... |
ORPHA:261552 |
Semilobar Holoprosencephaly |
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Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... |
ORPHA:220386 |
Alobar Holoprosencephaly |
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Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... |
ORPHA:93925 |
Midline Interhemispheric Variant Of Holoprosencephaly |
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Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... |
ORPHA:93926 |
Lobar Holoprosencephaly |
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Dysphagia, Cleft palate, High palate, Solitary median maxillary central incisor, Bifid uvula, Hip... |
ORPHA:93924 |
Tolchin-Le Caignec Syndrome |
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High palate, Arachnodactyly, Narrow mouth, Clinodactyly of the 5th finger, Submucous cleft hard p... |
OMIM:618971 |
Van Esch-O'Driscoll Syndrome |
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Bifid uvula |
OMIM:301030 |
Neuroocular Syndrome |
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Widely spaced teeth, Pectus excavatum, Hyperextensibility of the finger joints, Tapered finger, S... |
OMIM:619539 |
Hardikar Syndrome |
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Bilateral cleft lip and palate, Esophageal varix, Celiac disease, Cleft soft palate, Gastric vari... |
OMIM:301068 |
Frontofacionasal Dysplasia |
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Cleft upper lip, Bifid uvula, Oral cleft |
OMIM:229400 |
Neurodevelopmental Disorder With Dysmorphic Facies And Thin Corpus Callosum |
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Tapered finger, Bifid uvula, Exaggerated cupid's bow, Narrow mouth, Thick vermilion border |
OMIM:619480 |
Restrictive Dermopathy |
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Thoracic kyphoscoliosis, Increased anterioposterior diameter of thorax, Thin clavicles, Thin ribs... |
ORPHA:1662 |
Blepharophimosis-Intellectual Disability Syndrome, Sbbys Type |
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Neoplasm of the tongue, Bifid uvula, Camptodactyly of finger, Clinodactyly of the 5th finger, Sub... |
ORPHA:3047 |
Coffin-Siris Syndrome 12 |
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Pectus excavatum, High palate, Celiac disease, Velopharyngeal insufficiency, Slender finger, Hip ... |
OMIM:619325 |
Aprosencephaly And Cerebellar Dysgenesis |
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Bifid uvula |
OMIM:601374 |
Wiedemann-Rautenstrauch Syndrome |
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Submucous cleft soft palate, 2-3 toe syndactyly, Premature loss of teeth, Hypodontia, Short philt... |
ORPHA:3455 |
Pallister-Killian Syndrome |
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Cleft palate, Delayed eruption of teeth, 11 pairs of ribs, Thin upper lip vermilion, Short toe, S... |
OMIM:601803 |
Mowat-Wilson Syndrome |
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Pyloric stenosis, Widely spaced teeth, Pectus excavatum, Cleft palate, Aganglionic megacolon, Pec... |
OMIM:235730 |
Digeorge Syndrome |
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High, narrow palate, High palate, Cleft palate, Short philtrum, Bifid uvula |
OMIM:188400 |
Microphthalmia, Syndromic 6 |
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Toe syndactyly, Short middle phalanx of finger, Cleft palate, Polydactyly, High palate, Flexion c... |
OMIM:607932 |
Microcephaly, Developmental Delay, And Brittle Hair Syndrome |
|
Submucous cleft hard palate |
OMIM:618891 |
Loeys-Dietz Syndrome 3 |
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Cleft palate, High palate, Pectus carinatum, Abnormal sternum morphology, Arachnodactyly, Bifid u... |
OMIM:613795 |